Michalle Soudack | Tel Aviv University (original) (raw)
Papers by Michalle Soudack
Journal of Ultrasound in Medicine
ObjectivesUltrasound (US) is an important modality for the detection of acute appendicitis in chi... more ObjectivesUltrasound (US) is an important modality for the detection of acute appendicitis in children but has limited sensitivity and specificity. Therefore, additional US findings may contribute to the diagnosis. In our experience, children with acute appendicitis often have increased renal cortical echogenicity on US imaging. The purpose of this study was to examine the association of increased renal cortical echogenicity with appendicitis.MethodsThis study included 240 consecutive pediatric patients with no renal or liver disease who underwent US examinations for suspected appendicitis between February 2014 and January 2016. Ultrasound images of the liver and right kidney were retrospectively reviewed, and the echogenicity of the renal cortex was classified as less than the liver, equal to the liver, or greater than the liver.ResultsThe renal cortex was abnormally hyperechoic in 38 (50%) of all of the patients who had appendicitis according to US (P < .001) and in 47% of pati...
Pediatric Research, 2022
Kaposiform lymphangiomatosis (KLA) is a complex lymphatic anomaly involving most commonly the med... more Kaposiform lymphangiomatosis (KLA) is a complex lymphatic anomaly involving most commonly the mediastinum, lung, skin and bones with few effective treatments. In recent years, RAS-MAPK pathway mutations were shown to underlie the pathogenesis of several complex lymphatic anomalies. Specifically, an activating NRAS mutation (p.Q61R) was found in the majority of KLA patients. Recent reports demonstrated promising results of treatment with the MEK inhibitor, Trametinib, in patients with complex lymphatic anomalies harboring gain of function mutations in ARAF and SOS1, as well as loss of function mutation in the CBL gene, a negative regulator of the RAS-MAPK pathway. We present a 9-year-old child with a severe case of KLA harboring the typical NRAS (p.Q61R) mutation detected by plasma-derived cell free DNA, responsive to trametinib therapy. The NRAS somatic mutation was detected from plasma cfDNA using droplet digital PCR. Concurrent in-vitro studies of trametinib activity on mutant NRAS affected lymphatic endothelial cells were performed using a three-dimensional spheroid sprouting assay. Trametinib treatment lead to resolution of lifelong thrombocytopenia, improvement of pulmonary function tests and wellbeing, as well as weaning from prolonged systemic steroid treatment. Concurrent studies of mutant NRAS-expressing cells showed enhanced lymphangiogenic capacity along with over activation of the RAS-MAPK and PI3K-AKT-mTOR pathways, both reversed by trametinib. Trametinib treatment can substantially change the prognosis of patients with RAS pathway associated lymphatic anomalies. This is the first description of successful trametinib treatment of a patient with KLA harboring the most characteristic NRAS p.Q61R mutation. Treatment can significantly change the prognosis of patients with RAS pathway-associated lymphatic anomalies. We devised an in vitro model of KLA enabling a reproducible method for the continued study of disease pathogenesis. Mutated NRAS p.Q61R cells demonstrated increased lymphangiogenic capacity. This is the first description of successful trametinib treatment of a patient with KLA harboring the most characteristic NRAS p.Q61R mutation. Treatment can significantly change the prognosis of patients with RAS pathway-associated lymphatic anomalies. We devised an in vitro model of KLA enabling a reproducible method for the continued study of disease pathogenesis. Mutated NRAS p.Q61R cells demonstrated increased lymphangiogenic capacity.
Urology, 2021
To examine correlations of the modified Bosniak categories assigned by radiologists to histologic... more To examine correlations of the modified Bosniak categories assigned by radiologists to histological results and inter-rater reliability, focusing on intermediate-risk lesions. MATERIALS AND METHODS The data of pediatric patients who underwent surgery for intermediate-risk complex renal cyst at a tertiary medical center in 2006-2019 were collected retrospectively. Four pediatric radiologists from 2 different medical centers reviewed the available imaging scans, and assigned each to one of the four modified Bosniak classification categories. Binary cohorts of the Bosniak categories (I-II vs III-IV) were compared to the histological results. Diagnostic accuracy (benign-vs intermediaterisk lesion) was calculated for each radiologist and for each imaging modality. Krippendorff's a test was used to measure inter-rater reliability. RESULTS The cohort included seven children, each with 1 complex cyst that was rated as intermediate-risk on pathological study. The median age was 1.5 years (IQR 1, 11.9). A correct classification was made in 41/56 imaging readings (sensitivity 73.2%). Applying Krippendorff's test to the binary Bosniak cohorts yielded poor inter-rater agreement (a = 0.08). CONCLUSION Implementation of the modified Bosniak classification in children caused a disconcerting underestimation of intermediate risk. There was a low inter-rater consistency for the categories intended to guide decisions regarding surgery or conservative management. The findings suggest that clinicians should be cautious using the modified Bosniak system for children. UROLOGY 00: 1−5, 2020.
The Israel Medical Association journal : IMAJ, 2018
BACKGROUND Opinions differ as to the need of a lateral radiograph for diagnosing community acquir... more BACKGROUND Opinions differ as to the need of a lateral radiograph for diagnosing community acquired pneumonia in children referred to the emergency department. A lateral radiograph increases the ionizing radiation burden but at the same time may improve specificity and sensitivity in this population. OBJECTIVES To determine the value of the frontal and lateral chest radiographs compared to frontal view stand-alone images for the management of children with suspected community acquired pneumonia seen in a pediatric emergency department. METHODS Chest radiographs from 451 children with clinically suspected pneumonia were retrospectively reviewed. Interpretation of frontal views was compared to interpretation of combined frontal and lateral view, the latter being the gold standard. RESULTS Findings consistent with bacterial pneumonia were diagnosed in 94 (20.8%) of the frontal stand-alone radiographs and in 109 (24.2%) of the combined frontal and lateral radiographs. The sensitivity, s...
Pediatric Radiology, 2015
Background When administered to an immune-compromised patient, BCG (Bacille Calmette-Guérin) can ... more Background When administered to an immune-compromised patient, BCG (Bacille Calmette-Guérin) can cause disseminated and life-threatening infections. Objective To describe the imaging findings in children with primary immunodeficiency and BCG-related infections. Materials and methods We reviewed the imaging findings of children with primary immunodeficiency treated at a children's hospital during 2012-2014 with localized or disseminated BCG infection. Imaging modalities included US, CT and radiography. Results Nine children with primary immunodeficiency had clinical signs of post-vaccination BCGitis; seven of these children showed disseminated disease and two showed only regional lesions with characteristic ipsilateral lymphadenopathy. Overall, lymphadenopathy was the most prevalent feature (n=8) and characteristically appeared as a ring-enhancing hypodense (CT) or hypoechoic (US) lesion. Visceral involvement with multiple abscesses appeared in the spleen (n=2), liver (n=1) and bones (n=1). All lesions regressed following appropriate anti-tuberculosis treatment. Conclusion BCG infection needs to be considered in children with typical findings and with suspected primary immunodeficiency.
Journal of clinical ultrasound : JCU, Jan 20, 2015
The most common cause of acute scrotum in prepubertal boys is torsion of the testicular or epidid... more The most common cause of acute scrotum in prepubertal boys is torsion of the testicular or epididymal appendages. The purpose of this retrospective study was to characterize the features of these lesions as viewed on sonographic (US) and color Doppler US examination. During a 220-week period, 527 male patients 0-17 years old had been referred from the pediatric emergency department for scrotal US evaluation. Torsion of the appendix testis or appendix epididymis had been diagnosed in 19 (3.6%) patients, 3-14 years old (mean, 9.4 years); those patients became our study cohort. The clinical diagnoses in 15 of those patients had been suspected testicular torsion (n = 7), trauma (n = 4), suspected epididymitis and/or orchitis (n = 3), and suspected hydrocele (n = 1). The remaining four patients had been referred owing to nonspecific pain. None of the 19 patients had had the "blue-dot sign" on physical examination. In the 19 patients diagnosed with torsion of the intrascrotal ap...
PURPOSE To determine whether the Greulich and Pyle Atlas, first published in 1950, is relevant fo... more PURPOSE To determine whether the Greulich and Pyle Atlas, first published in 1950, is relevant for the Israeli pediatric population today, and estimate the correction needed for Israeli children when determining bone age from the Atlas. METHOD AND MATERIALS All left hand radiographs of children obtained for trauma since 2001 were identified through the hospital's computerized archives. 254 radiographs of boys and 184 radiographs of girls aged 3 months to 19 years old were included. Patients with known underlying disease were excluded. All radiographs were scored for bone age according to the atlas by five experienced Pediatric and Musculoskeletal Radiologists, blinded to the patient's calendar age. The individual bone ages were smoothed using LOESS (Local Estimated Surface) procedure to obtain the dependence between the calendar age and bone age from the Atlas. In addition the 95% confidence region was defined. RESULTS In average, the agreement between bone age according to ...
Pediatric Radiology, 2012
Background The applicability today of Greulich and Pyle's Radiographic Atlas of Skeletal Developm... more Background The applicability today of Greulich and Pyle's Radiographic Atlas of Skeletal Development of the Hand and Wrist (G&P) is uncertain. Objective The purpose of this study was to determine whether G&P is accurate in Israeli children today. Materials and methods Left-hand radiographs of 679 children (375 boys) ranging in age from 1 day to 18 years old were obtained for trauma in the period 2001-2009 and were evaluated for bone age according to G&P. Individual bone age was plotted against calendar age and smoothed to obtain the association between calendar age and bone age. Any difference was assessed with Wilcoxon signed-rank test. Results In girls, there was no significant difference between bone age and calendar age (P=0.188). G&P underestimated bone age in boys <15 years old (median difference, 2.3 months; P<0.0001) and overestimated bone age in boys ≥15 years old (median difference, 2.9 months; P= 0.0043). The largest median difference (5.4 months; P= 0.0003) was seen in boys 6-10 years old. Conclusion The differences between calendar age and bone age according to G&P were relatively small compared with normal variance and are unlikely to be of clinical importance. Keywords Bone age assessment. Radiography. Child Materials and methods This retrospective study was approved by our institutional review board, and informed consent was waived. Study group A search of the hospital's electronic database was made combining all numerical codes for upper arm radiographs
Urology Case Reports, 2018
Journal of Anatomy, 2018
Spinal muscle cross-sectional area has been highly associated with spinal pathology. Despite the ... more Spinal muscle cross-sectional area has been highly associated with spinal pathology. Despite the medium-high prevalence of spinal pathology in children, there is very limited knowledge regarding muscle size and growth pattern in individuals younger than 20 years of age. The aim of this study is to analyze the change in size and symmetry of spinal muscles (erector spinae, multifidus, psoas and quadratus lumborum) in children 2-20 years of age. We studied reformatted images from 91 abdominal computed tomographic scans of children aged 2-20 years, from an existing imaging dataset. The cross-sectional area of the muscles was bilaterally measured parallel to the upper endplate of the lumbar vertebrae L3-L5 and at true horizontal for S1. The cross-sectional area of the upper vertebral endplate was measured at spinal levels L3-L5. Results were analyzed according to six groups based on children's age: 2-4 years (group 1), 5-7 years (group 2), 8-10 years (group 3), 11-13 years (group 4), 14-16 years (group 5) and 17-20 years (group 6). Vertebral endplate and spinal muscles cross-sectional area increased with age. Two patterns were observed: Endplate, psoas and quadratus lumborum increased up to our 6th oldest age group (17-20), and multifidus and erector spinae reached their largest size in the 5th age group (14-16). The epaxial muscles (erector spinae and multifidus) reached their maximal cross-sectional area before skeletal maturity (18-21 years of age). The hypaxial muscles (psoas and quadratus lumborum) continued to increase in size at least until spinal maturity. Contributing factors for the differences in developmental pattern between the epaxial and hypaxial muscles might include functional, embryological and innervation factors. In conclusion, this research is the first to describe the crosssectional area of spinal muscles in children. Future longitudinal studies are needed for further understanding of muscle development during childhood and adolescence. Level of evidence: level 2b, Retrospective cohort study.
World journal of surgery, Jan 15, 2017
Laparoscopic sleeve gastrectomy is a common surgical management of morbid obesity. Major complica... more Laparoscopic sleeve gastrectomy is a common surgical management of morbid obesity. Major complication rate is 3-8%. Staple line leak is one of the most serious complications. In a small group of patients, a gastro-pulmonary fistula is formed. Endoscopic and minimally invasive measures are the first line of treatment with considerable success rate. There are very poor data in the literature what should be done in cases of failure. In this paper, we report our positive experience with definitive surgical repair. Retrospective evaluation of 13 consecutive patients referred to the general thoracic surgery department for gastro-pulmonary fistula following sleeve gastrectomy. Prior to their referral, all patients underwent surgical or percutaneous drainage and multiple treatment attempts including stent insertion, pyloric dilatation, endo-clip/ring closure, endoscopic argon ablation and glue injection. Two patients underwent emergency thoracotomy for sepsis and bile empyema. One died in t...
The Anatomical Record, 2017
Spinopelvic alignment refers to the interaction between pelvic orientation, spinal curvatures, an... more Spinopelvic alignment refers to the interaction between pelvic orientation, spinal curvatures, and the line of gravity. In a healthy modern human, this alignment is characterized by reciprocal curves/orientation of the sacrum, lumbar lordosis, thoracic kyphosis, and cervical lordosis. In an economic sagittal posture, these curvatures keep the line of gravity close to the center of the acetabulum. The purpose of this study is to explore the spinopelvic alignment in extinct hominins. We examined spinopelvic alignment of a single representative from each of the following hominin groups: Australopithecus, Homo erectus (H. erectus), H. neanderthalensis, and early H. sapiens. Pelvic incidence, lumbar lordosis, thoracic kyphosis, and cervical lordosis for each representative was estimated and compared with that of modern humans. Three basic spinopelvic alignments were found: (1) the sinusoidal alignment with moderate to high spinal curvatures and pelvic incidence found in H. erectus and H. sapiens; (2) the straight alignment with small spinal curvatures and small pelvic incidence found in Neandertal lineage hominins; (3) the compound alignment found in Australopithecus, with moderate pelvic incidence and lumbar lordosis, and nearly straight cervical spine. Our results indicate that balanced upright posture can be achieved in different alignments. Each hominin group solved the requirements of erect posture in a slightly different way. Moreover, we propose the term "cranio-spino-pelvic balance" to substitute "spino-pelvic balance." From an evolutionary perspective, not only changes in the pelvis have conditioned the evolution of the spinal
The Spine Journal, 2017
Background context. The cervical lordosis is of great importance to posture and function. Neck pa... more Background context. The cervical lordosis is of great importance to posture and function. Neck pain and disability is often associated with cervical lordosis malalignment. Surgical procedures involving cervical lordosis stabilization or restoration must take into account age and gender differences in cervical lordosis architecture, to avoid further complications. Purpose. Therefore, the purpose of this study was to evaluate differences in the cervical lordosis between males and females from childhood to adulthood. Study Design. This is a retrospective descriptive study. Patient Sample. A total of 197 lateral cervical radiographs of patients aged 6-50 years were examined. These were divided into two age groups: the younger group (76 children age 6-19; 48 boys and 28 girls) and the adult group (121 adults age 20-50; 61 males and 60 females). The retrospective review of the radiographs was approved by the institutional review board. Methods. On each radiograph 6 lordosis angles were measured including total cervical lordosis (FM-C7), upper (FM-C3; C1-C3) and lower (C3-C7) cervical lordosis, C1-C7 lordosis and the angle between foramen magnum
Surgery Today, 2015
Conclusions Hybrid VALO resection of Pancoast tumors is feasible and safe, resulting in faster pa... more Conclusions Hybrid VALO resection of Pancoast tumors is feasible and safe, resulting in faster patient recovery and a significantly lower incidence of severe chronic pain than open thoracotomy. We conclude that centers experienced with video-assisted lobectomy should consider hybrid VALO surgery as the procedure of choice for Pancoast tumors.
Advances in Anthropology, 2014
The cranial base is located at a critical intersection between the vertebral spine, the brain, th... more The cranial base is located at a critical intersection between the vertebral spine, the brain, the respiratory system and the mastication apparatus. Therefore it can provide an insight into the evolution of the head and neck in functional and phylogenetic contexts. However, the relationship between cranial base anatomy and cervical spine alignment has not been explored deeply. Therefore the aim of this research is to study the relationship between the orientation of the foramen magnum and the degree of cervical lordosis. Based on this relationship we developed six models which enable reconstruction of the cervical lordosis angle in archeological material and in extinct hominins. 74 adult lateral cervical radiographs were examined. The orientation of the foramen magnum and the angle of the cervical lordosis were measured on each radiograph. Foramen magnum orientation positively correlates with cervical lordosis angles: moderate to high correlation was found between foramen magnum orientation and the total cervical lordosis (0.716 < r < 0.612); moderate correlation was also found between foramen magnum orientation and the upper cervical lordosis (0.626 < r < 0.562); and only weak correlation was found with the lower cervical lordosis (0.306 < r < 0.101). Assuming that the positive correlation between foramen magnum orientation and cervical lordosis can be applied to all bipedal hominins, cranial base morphology can provide an insight to the degree of the cervical lordosis of archeological material and of extinct hominin.
Spine, 2013
Cross-sectional retrospective study. The purpose of this study was to provide data for the normal... more Cross-sectional retrospective study. The purpose of this study was to provide data for the normal values of the lumbar lordotic curvature and segmental angles throughout childhood and to explore the relative contribution of the vertebral bodies and intervertebral discs to the developing lordosis during childhood. Although early detection of spinal abnormalities such as hyper lordosis or scoliosis is important for preventative intervention, published data regarding normal lordosis development is sparse. The lumbar lordotic curvature is formed by the wedging of the lumbar vertebral bodies and of the intervertebral discs, but there are no data to indicate how these 2 components changes during childhood development. Spinal angle parameters were measured on midsagittal reformatted images from 210 abdominal computed tomographic scans of children aged 2 to 20 years. Four different angles were measured: the lordosis angle, the body wedge angle (B), the total segmental angle (S), and the intervertebral disc angle (D). Measurements B, S, and D were taken for each of the 5 lumbar segments. Measurements B and D were used to calculate ΣB, the sum of the lumbar L1-L5 body angles; and ΣD, the sum of the lumbar L1-L5 intervertebral disc angles. Computed tomographic scans were divided into 6 groups according to patients&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; ages. RESULTS.: The lordosis angle increased from 30° ± 6° in the 2- to 4-year-old group to 44° ± 9° in the 17- to 20-year-old group. The ΣB slightly decreased (less lordotic wedging) with age, whereas the ΣD increased significantly with age. Our results indicate that the lordosis angle continues to develop at least until 14 to 16 years of age and that this increase is the result of the increased lordotic wedging of the intervertebral discs. N/A.
World Journal of Surgery, 2011
Background Recurrent spontaneous pneumothorax is widely treated by video-assisted thoracoscopic (... more Background Recurrent spontaneous pneumothorax is widely treated by video-assisted thoracoscopic (VATS) bullectomy and pleurodesis. Treatment of postoperative pain with nonsteroidal antiinflammatory drugs (NSAIDs) is controversial as many surgeons believe that it reduces the efficacy of pleurodesis and increases the pneumothorax recurrence rate. Methods In this retrospective study, we reviewed the hospital records for patients following VATS pleurodesis for recurrent spontaneous pneumothorax. The patients were divided into two groups: (1) NSAID group: patients were treated with NSAIDs for more than a week following surgery and (2) control group: patients did not receive NSAIDs. Data regarding short-and long-term outcomes were compared. Results The study cohort included 105 patients: 48 in the NSAID group and 57 in the control group. During the early postoperative period the average daily requirement of narcotic analgesia and the incidence of narcotic-related side effects were lower in the NSAIDs group. No difference was found in the long-term recurrence rate: two of 48 (4%) in the NSAID group and three of 57 (5%) in the control group. There was one case of early recurrence in the NSAID group. Both groups had similar length of stay with no cases of mortality or major morbidity. Conclusions NSAIDs for postsurgical pleurodesis pain obviates the need for narcotics without increasing the pneumothorax recurrence rate. Prospective randomized controlled studies are needed to further investigate this issue.
New England Journal of Medicine, 2013
Neutrophils are the predominant phagocytes that provide protection against bacterial and fungal i... more Neutrophils are the predominant phagocytes that provide protection against bacterial and fungal infections. Genetically determined neutrophil disorders confer a predisposition to severe infections and reveal novel mechanisms that control vesicular trafficking, hematopoiesis, and innate immunity. We clinically evaluated seven children from five families who had neutropenia, neutrophil dysfunction, bone marrow fibrosis, and nephromegaly. To identify the causative gene, we performed homozygosity mapping using single-nucleotide polymorphism arrays, whole-exome sequencing, immunoblotting, immunofluorescence, electron microscopy, a real-time quantitative polymerase-chain-reaction assay, immunohistochemistry, flow cytometry, fibroblast motility assays, measurements of apoptosis, and zebrafish models. Correction experiments were performed by transfecting mutant fibroblasts with the nonmutated gene. All seven affected children had homozygous mutations (Thr224Asn or Glu238Lys, depending on the child&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s ethnic origin) in VPS45, which encodes a protein that regulates membrane trafficking through the endosomal system. The level of VPS45 protein was reduced, as were the VPS45 binding partners rabenosyn-5 and syntaxin-16. The level of β1 integrin was reduced on the surface of VPS45-deficient neutrophils and fibroblasts. VPS45-deficient fibroblasts were characterized by impaired motility and increased apoptosis. A zebrafish model of vps45 deficiency showed a marked paucity of myeloperoxidase-positive cells (i.e., neutrophils). Transfection of patient cells with nonmutated VPS45 corrected the migration defect and decreased apoptosis. Defective endosomal intracellular protein trafficking due to biallelic mutations in VPS45 underlies a new immunodeficiency syndrome involving impaired neutrophil function. (Funded by the National Human Genome Research Institute and others.).
Journal of clinical ultrasound : JCU, Jan 20, 2015
The most common cause of acute scrotum in prepubertal boys is torsion of the testicular or epidid... more The most common cause of acute scrotum in prepubertal boys is torsion of the testicular or epididymal appendages. The purpose of this retrospective study was to characterize the features of these lesions as viewed on sonographic (US) and color Doppler US examination. During a 220-week period, 527 male patients 0-17 years old had been referred from the pediatric emergency department for scrotal US evaluation. Torsion of the appendix testis or appendix epididymis had been diagnosed in 19 (3.6%) patients, 3-14 years old (mean, 9.4 years); those patients became our study cohort. The clinical diagnoses in 15 of those patients had been suspected testicular torsion (n = 7), trauma (n = 4), suspected epididymitis and/or orchitis (n = 3), and suspected hydrocele (n = 1). The remaining four patients had been referred owing to nonspecific pain. None of the 19 patients had had the "blue-dot sign" on physical examination. In the 19 patients diagnosed with torsion of the intrascrotal ap...
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine, 2004
Sonography is a reliable imaging tool, complementary to plain radiography in certain pediatric ch... more Sonography is a reliable imaging tool, complementary to plain radiography in certain pediatric chest disorders. It can assist in localizing and characterizing mediastinal, pleural, and pulmonary opacities. We have found that sonography is also valuable in elucidating postoperative chest radiography. In this series, our objective was to assess the value of sonography for understanding the radiologic changes in the child after esophagectomy and to highlight its ability to show the intrathoracic stomach. Sonography was performed with a 5- to 12-MHz linear array transducer via anterior, lateral, and posterior intercostal approaches of the abnormal hemithorax in supine, prone, and, when necessary, upright positions. The distended fluid- or food-filled stomach was identified on sonography as the source of the undefined thoracic opacity on plain radiography in 2 patients. The postoperative pediatric chest radiograph is often difficult to understand. Sonography can differentiate between lun...
Journal of Ultrasound in Medicine
ObjectivesUltrasound (US) is an important modality for the detection of acute appendicitis in chi... more ObjectivesUltrasound (US) is an important modality for the detection of acute appendicitis in children but has limited sensitivity and specificity. Therefore, additional US findings may contribute to the diagnosis. In our experience, children with acute appendicitis often have increased renal cortical echogenicity on US imaging. The purpose of this study was to examine the association of increased renal cortical echogenicity with appendicitis.MethodsThis study included 240 consecutive pediatric patients with no renal or liver disease who underwent US examinations for suspected appendicitis between February 2014 and January 2016. Ultrasound images of the liver and right kidney were retrospectively reviewed, and the echogenicity of the renal cortex was classified as less than the liver, equal to the liver, or greater than the liver.ResultsThe renal cortex was abnormally hyperechoic in 38 (50%) of all of the patients who had appendicitis according to US (P < .001) and in 47% of pati...
Pediatric Research, 2022
Kaposiform lymphangiomatosis (KLA) is a complex lymphatic anomaly involving most commonly the med... more Kaposiform lymphangiomatosis (KLA) is a complex lymphatic anomaly involving most commonly the mediastinum, lung, skin and bones with few effective treatments. In recent years, RAS-MAPK pathway mutations were shown to underlie the pathogenesis of several complex lymphatic anomalies. Specifically, an activating NRAS mutation (p.Q61R) was found in the majority of KLA patients. Recent reports demonstrated promising results of treatment with the MEK inhibitor, Trametinib, in patients with complex lymphatic anomalies harboring gain of function mutations in ARAF and SOS1, as well as loss of function mutation in the CBL gene, a negative regulator of the RAS-MAPK pathway. We present a 9-year-old child with a severe case of KLA harboring the typical NRAS (p.Q61R) mutation detected by plasma-derived cell free DNA, responsive to trametinib therapy. The NRAS somatic mutation was detected from plasma cfDNA using droplet digital PCR. Concurrent in-vitro studies of trametinib activity on mutant NRAS affected lymphatic endothelial cells were performed using a three-dimensional spheroid sprouting assay. Trametinib treatment lead to resolution of lifelong thrombocytopenia, improvement of pulmonary function tests and wellbeing, as well as weaning from prolonged systemic steroid treatment. Concurrent studies of mutant NRAS-expressing cells showed enhanced lymphangiogenic capacity along with over activation of the RAS-MAPK and PI3K-AKT-mTOR pathways, both reversed by trametinib. Trametinib treatment can substantially change the prognosis of patients with RAS pathway associated lymphatic anomalies. This is the first description of successful trametinib treatment of a patient with KLA harboring the most characteristic NRAS p.Q61R mutation. Treatment can significantly change the prognosis of patients with RAS pathway-associated lymphatic anomalies. We devised an in vitro model of KLA enabling a reproducible method for the continued study of disease pathogenesis. Mutated NRAS p.Q61R cells demonstrated increased lymphangiogenic capacity. This is the first description of successful trametinib treatment of a patient with KLA harboring the most characteristic NRAS p.Q61R mutation. Treatment can significantly change the prognosis of patients with RAS pathway-associated lymphatic anomalies. We devised an in vitro model of KLA enabling a reproducible method for the continued study of disease pathogenesis. Mutated NRAS p.Q61R cells demonstrated increased lymphangiogenic capacity.
Urology, 2021
To examine correlations of the modified Bosniak categories assigned by radiologists to histologic... more To examine correlations of the modified Bosniak categories assigned by radiologists to histological results and inter-rater reliability, focusing on intermediate-risk lesions. MATERIALS AND METHODS The data of pediatric patients who underwent surgery for intermediate-risk complex renal cyst at a tertiary medical center in 2006-2019 were collected retrospectively. Four pediatric radiologists from 2 different medical centers reviewed the available imaging scans, and assigned each to one of the four modified Bosniak classification categories. Binary cohorts of the Bosniak categories (I-II vs III-IV) were compared to the histological results. Diagnostic accuracy (benign-vs intermediaterisk lesion) was calculated for each radiologist and for each imaging modality. Krippendorff's a test was used to measure inter-rater reliability. RESULTS The cohort included seven children, each with 1 complex cyst that was rated as intermediate-risk on pathological study. The median age was 1.5 years (IQR 1, 11.9). A correct classification was made in 41/56 imaging readings (sensitivity 73.2%). Applying Krippendorff's test to the binary Bosniak cohorts yielded poor inter-rater agreement (a = 0.08). CONCLUSION Implementation of the modified Bosniak classification in children caused a disconcerting underestimation of intermediate risk. There was a low inter-rater consistency for the categories intended to guide decisions regarding surgery or conservative management. The findings suggest that clinicians should be cautious using the modified Bosniak system for children. UROLOGY 00: 1−5, 2020.
The Israel Medical Association journal : IMAJ, 2018
BACKGROUND Opinions differ as to the need of a lateral radiograph for diagnosing community acquir... more BACKGROUND Opinions differ as to the need of a lateral radiograph for diagnosing community acquired pneumonia in children referred to the emergency department. A lateral radiograph increases the ionizing radiation burden but at the same time may improve specificity and sensitivity in this population. OBJECTIVES To determine the value of the frontal and lateral chest radiographs compared to frontal view stand-alone images for the management of children with suspected community acquired pneumonia seen in a pediatric emergency department. METHODS Chest radiographs from 451 children with clinically suspected pneumonia were retrospectively reviewed. Interpretation of frontal views was compared to interpretation of combined frontal and lateral view, the latter being the gold standard. RESULTS Findings consistent with bacterial pneumonia were diagnosed in 94 (20.8%) of the frontal stand-alone radiographs and in 109 (24.2%) of the combined frontal and lateral radiographs. The sensitivity, s...
Pediatric Radiology, 2015
Background When administered to an immune-compromised patient, BCG (Bacille Calmette-Guérin) can ... more Background When administered to an immune-compromised patient, BCG (Bacille Calmette-Guérin) can cause disseminated and life-threatening infections. Objective To describe the imaging findings in children with primary immunodeficiency and BCG-related infections. Materials and methods We reviewed the imaging findings of children with primary immunodeficiency treated at a children's hospital during 2012-2014 with localized or disseminated BCG infection. Imaging modalities included US, CT and radiography. Results Nine children with primary immunodeficiency had clinical signs of post-vaccination BCGitis; seven of these children showed disseminated disease and two showed only regional lesions with characteristic ipsilateral lymphadenopathy. Overall, lymphadenopathy was the most prevalent feature (n=8) and characteristically appeared as a ring-enhancing hypodense (CT) or hypoechoic (US) lesion. Visceral involvement with multiple abscesses appeared in the spleen (n=2), liver (n=1) and bones (n=1). All lesions regressed following appropriate anti-tuberculosis treatment. Conclusion BCG infection needs to be considered in children with typical findings and with suspected primary immunodeficiency.
Journal of clinical ultrasound : JCU, Jan 20, 2015
The most common cause of acute scrotum in prepubertal boys is torsion of the testicular or epidid... more The most common cause of acute scrotum in prepubertal boys is torsion of the testicular or epididymal appendages. The purpose of this retrospective study was to characterize the features of these lesions as viewed on sonographic (US) and color Doppler US examination. During a 220-week period, 527 male patients 0-17 years old had been referred from the pediatric emergency department for scrotal US evaluation. Torsion of the appendix testis or appendix epididymis had been diagnosed in 19 (3.6%) patients, 3-14 years old (mean, 9.4 years); those patients became our study cohort. The clinical diagnoses in 15 of those patients had been suspected testicular torsion (n = 7), trauma (n = 4), suspected epididymitis and/or orchitis (n = 3), and suspected hydrocele (n = 1). The remaining four patients had been referred owing to nonspecific pain. None of the 19 patients had had the "blue-dot sign" on physical examination. In the 19 patients diagnosed with torsion of the intrascrotal ap...
PURPOSE To determine whether the Greulich and Pyle Atlas, first published in 1950, is relevant fo... more PURPOSE To determine whether the Greulich and Pyle Atlas, first published in 1950, is relevant for the Israeli pediatric population today, and estimate the correction needed for Israeli children when determining bone age from the Atlas. METHOD AND MATERIALS All left hand radiographs of children obtained for trauma since 2001 were identified through the hospital's computerized archives. 254 radiographs of boys and 184 radiographs of girls aged 3 months to 19 years old were included. Patients with known underlying disease were excluded. All radiographs were scored for bone age according to the atlas by five experienced Pediatric and Musculoskeletal Radiologists, blinded to the patient's calendar age. The individual bone ages were smoothed using LOESS (Local Estimated Surface) procedure to obtain the dependence between the calendar age and bone age from the Atlas. In addition the 95% confidence region was defined. RESULTS In average, the agreement between bone age according to ...
Pediatric Radiology, 2012
Background The applicability today of Greulich and Pyle's Radiographic Atlas of Skeletal Developm... more Background The applicability today of Greulich and Pyle's Radiographic Atlas of Skeletal Development of the Hand and Wrist (G&P) is uncertain. Objective The purpose of this study was to determine whether G&P is accurate in Israeli children today. Materials and methods Left-hand radiographs of 679 children (375 boys) ranging in age from 1 day to 18 years old were obtained for trauma in the period 2001-2009 and were evaluated for bone age according to G&P. Individual bone age was plotted against calendar age and smoothed to obtain the association between calendar age and bone age. Any difference was assessed with Wilcoxon signed-rank test. Results In girls, there was no significant difference between bone age and calendar age (P=0.188). G&P underestimated bone age in boys <15 years old (median difference, 2.3 months; P<0.0001) and overestimated bone age in boys ≥15 years old (median difference, 2.9 months; P= 0.0043). The largest median difference (5.4 months; P= 0.0003) was seen in boys 6-10 years old. Conclusion The differences between calendar age and bone age according to G&P were relatively small compared with normal variance and are unlikely to be of clinical importance. Keywords Bone age assessment. Radiography. Child Materials and methods This retrospective study was approved by our institutional review board, and informed consent was waived. Study group A search of the hospital's electronic database was made combining all numerical codes for upper arm radiographs
Urology Case Reports, 2018
Journal of Anatomy, 2018
Spinal muscle cross-sectional area has been highly associated with spinal pathology. Despite the ... more Spinal muscle cross-sectional area has been highly associated with spinal pathology. Despite the medium-high prevalence of spinal pathology in children, there is very limited knowledge regarding muscle size and growth pattern in individuals younger than 20 years of age. The aim of this study is to analyze the change in size and symmetry of spinal muscles (erector spinae, multifidus, psoas and quadratus lumborum) in children 2-20 years of age. We studied reformatted images from 91 abdominal computed tomographic scans of children aged 2-20 years, from an existing imaging dataset. The cross-sectional area of the muscles was bilaterally measured parallel to the upper endplate of the lumbar vertebrae L3-L5 and at true horizontal for S1. The cross-sectional area of the upper vertebral endplate was measured at spinal levels L3-L5. Results were analyzed according to six groups based on children's age: 2-4 years (group 1), 5-7 years (group 2), 8-10 years (group 3), 11-13 years (group 4), 14-16 years (group 5) and 17-20 years (group 6). Vertebral endplate and spinal muscles cross-sectional area increased with age. Two patterns were observed: Endplate, psoas and quadratus lumborum increased up to our 6th oldest age group (17-20), and multifidus and erector spinae reached their largest size in the 5th age group (14-16). The epaxial muscles (erector spinae and multifidus) reached their maximal cross-sectional area before skeletal maturity (18-21 years of age). The hypaxial muscles (psoas and quadratus lumborum) continued to increase in size at least until spinal maturity. Contributing factors for the differences in developmental pattern between the epaxial and hypaxial muscles might include functional, embryological and innervation factors. In conclusion, this research is the first to describe the crosssectional area of spinal muscles in children. Future longitudinal studies are needed for further understanding of muscle development during childhood and adolescence. Level of evidence: level 2b, Retrospective cohort study.
World journal of surgery, Jan 15, 2017
Laparoscopic sleeve gastrectomy is a common surgical management of morbid obesity. Major complica... more Laparoscopic sleeve gastrectomy is a common surgical management of morbid obesity. Major complication rate is 3-8%. Staple line leak is one of the most serious complications. In a small group of patients, a gastro-pulmonary fistula is formed. Endoscopic and minimally invasive measures are the first line of treatment with considerable success rate. There are very poor data in the literature what should be done in cases of failure. In this paper, we report our positive experience with definitive surgical repair. Retrospective evaluation of 13 consecutive patients referred to the general thoracic surgery department for gastro-pulmonary fistula following sleeve gastrectomy. Prior to their referral, all patients underwent surgical or percutaneous drainage and multiple treatment attempts including stent insertion, pyloric dilatation, endo-clip/ring closure, endoscopic argon ablation and glue injection. Two patients underwent emergency thoracotomy for sepsis and bile empyema. One died in t...
The Anatomical Record, 2017
Spinopelvic alignment refers to the interaction between pelvic orientation, spinal curvatures, an... more Spinopelvic alignment refers to the interaction between pelvic orientation, spinal curvatures, and the line of gravity. In a healthy modern human, this alignment is characterized by reciprocal curves/orientation of the sacrum, lumbar lordosis, thoracic kyphosis, and cervical lordosis. In an economic sagittal posture, these curvatures keep the line of gravity close to the center of the acetabulum. The purpose of this study is to explore the spinopelvic alignment in extinct hominins. We examined spinopelvic alignment of a single representative from each of the following hominin groups: Australopithecus, Homo erectus (H. erectus), H. neanderthalensis, and early H. sapiens. Pelvic incidence, lumbar lordosis, thoracic kyphosis, and cervical lordosis for each representative was estimated and compared with that of modern humans. Three basic spinopelvic alignments were found: (1) the sinusoidal alignment with moderate to high spinal curvatures and pelvic incidence found in H. erectus and H. sapiens; (2) the straight alignment with small spinal curvatures and small pelvic incidence found in Neandertal lineage hominins; (3) the compound alignment found in Australopithecus, with moderate pelvic incidence and lumbar lordosis, and nearly straight cervical spine. Our results indicate that balanced upright posture can be achieved in different alignments. Each hominin group solved the requirements of erect posture in a slightly different way. Moreover, we propose the term "cranio-spino-pelvic balance" to substitute "spino-pelvic balance." From an evolutionary perspective, not only changes in the pelvis have conditioned the evolution of the spinal
The Spine Journal, 2017
Background context. The cervical lordosis is of great importance to posture and function. Neck pa... more Background context. The cervical lordosis is of great importance to posture and function. Neck pain and disability is often associated with cervical lordosis malalignment. Surgical procedures involving cervical lordosis stabilization or restoration must take into account age and gender differences in cervical lordosis architecture, to avoid further complications. Purpose. Therefore, the purpose of this study was to evaluate differences in the cervical lordosis between males and females from childhood to adulthood. Study Design. This is a retrospective descriptive study. Patient Sample. A total of 197 lateral cervical radiographs of patients aged 6-50 years were examined. These were divided into two age groups: the younger group (76 children age 6-19; 48 boys and 28 girls) and the adult group (121 adults age 20-50; 61 males and 60 females). The retrospective review of the radiographs was approved by the institutional review board. Methods. On each radiograph 6 lordosis angles were measured including total cervical lordosis (FM-C7), upper (FM-C3; C1-C3) and lower (C3-C7) cervical lordosis, C1-C7 lordosis and the angle between foramen magnum
Surgery Today, 2015
Conclusions Hybrid VALO resection of Pancoast tumors is feasible and safe, resulting in faster pa... more Conclusions Hybrid VALO resection of Pancoast tumors is feasible and safe, resulting in faster patient recovery and a significantly lower incidence of severe chronic pain than open thoracotomy. We conclude that centers experienced with video-assisted lobectomy should consider hybrid VALO surgery as the procedure of choice for Pancoast tumors.
Advances in Anthropology, 2014
The cranial base is located at a critical intersection between the vertebral spine, the brain, th... more The cranial base is located at a critical intersection between the vertebral spine, the brain, the respiratory system and the mastication apparatus. Therefore it can provide an insight into the evolution of the head and neck in functional and phylogenetic contexts. However, the relationship between cranial base anatomy and cervical spine alignment has not been explored deeply. Therefore the aim of this research is to study the relationship between the orientation of the foramen magnum and the degree of cervical lordosis. Based on this relationship we developed six models which enable reconstruction of the cervical lordosis angle in archeological material and in extinct hominins. 74 adult lateral cervical radiographs were examined. The orientation of the foramen magnum and the angle of the cervical lordosis were measured on each radiograph. Foramen magnum orientation positively correlates with cervical lordosis angles: moderate to high correlation was found between foramen magnum orientation and the total cervical lordosis (0.716 < r < 0.612); moderate correlation was also found between foramen magnum orientation and the upper cervical lordosis (0.626 < r < 0.562); and only weak correlation was found with the lower cervical lordosis (0.306 < r < 0.101). Assuming that the positive correlation between foramen magnum orientation and cervical lordosis can be applied to all bipedal hominins, cranial base morphology can provide an insight to the degree of the cervical lordosis of archeological material and of extinct hominin.
Spine, 2013
Cross-sectional retrospective study. The purpose of this study was to provide data for the normal... more Cross-sectional retrospective study. The purpose of this study was to provide data for the normal values of the lumbar lordotic curvature and segmental angles throughout childhood and to explore the relative contribution of the vertebral bodies and intervertebral discs to the developing lordosis during childhood. Although early detection of spinal abnormalities such as hyper lordosis or scoliosis is important for preventative intervention, published data regarding normal lordosis development is sparse. The lumbar lordotic curvature is formed by the wedging of the lumbar vertebral bodies and of the intervertebral discs, but there are no data to indicate how these 2 components changes during childhood development. Spinal angle parameters were measured on midsagittal reformatted images from 210 abdominal computed tomographic scans of children aged 2 to 20 years. Four different angles were measured: the lordosis angle, the body wedge angle (B), the total segmental angle (S), and the intervertebral disc angle (D). Measurements B, S, and D were taken for each of the 5 lumbar segments. Measurements B and D were used to calculate ΣB, the sum of the lumbar L1-L5 body angles; and ΣD, the sum of the lumbar L1-L5 intervertebral disc angles. Computed tomographic scans were divided into 6 groups according to patients&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; ages. RESULTS.: The lordosis angle increased from 30° ± 6° in the 2- to 4-year-old group to 44° ± 9° in the 17- to 20-year-old group. The ΣB slightly decreased (less lordotic wedging) with age, whereas the ΣD increased significantly with age. Our results indicate that the lordosis angle continues to develop at least until 14 to 16 years of age and that this increase is the result of the increased lordotic wedging of the intervertebral discs. N/A.
World Journal of Surgery, 2011
Background Recurrent spontaneous pneumothorax is widely treated by video-assisted thoracoscopic (... more Background Recurrent spontaneous pneumothorax is widely treated by video-assisted thoracoscopic (VATS) bullectomy and pleurodesis. Treatment of postoperative pain with nonsteroidal antiinflammatory drugs (NSAIDs) is controversial as many surgeons believe that it reduces the efficacy of pleurodesis and increases the pneumothorax recurrence rate. Methods In this retrospective study, we reviewed the hospital records for patients following VATS pleurodesis for recurrent spontaneous pneumothorax. The patients were divided into two groups: (1) NSAID group: patients were treated with NSAIDs for more than a week following surgery and (2) control group: patients did not receive NSAIDs. Data regarding short-and long-term outcomes were compared. Results The study cohort included 105 patients: 48 in the NSAID group and 57 in the control group. During the early postoperative period the average daily requirement of narcotic analgesia and the incidence of narcotic-related side effects were lower in the NSAIDs group. No difference was found in the long-term recurrence rate: two of 48 (4%) in the NSAID group and three of 57 (5%) in the control group. There was one case of early recurrence in the NSAID group. Both groups had similar length of stay with no cases of mortality or major morbidity. Conclusions NSAIDs for postsurgical pleurodesis pain obviates the need for narcotics without increasing the pneumothorax recurrence rate. Prospective randomized controlled studies are needed to further investigate this issue.
New England Journal of Medicine, 2013
Neutrophils are the predominant phagocytes that provide protection against bacterial and fungal i... more Neutrophils are the predominant phagocytes that provide protection against bacterial and fungal infections. Genetically determined neutrophil disorders confer a predisposition to severe infections and reveal novel mechanisms that control vesicular trafficking, hematopoiesis, and innate immunity. We clinically evaluated seven children from five families who had neutropenia, neutrophil dysfunction, bone marrow fibrosis, and nephromegaly. To identify the causative gene, we performed homozygosity mapping using single-nucleotide polymorphism arrays, whole-exome sequencing, immunoblotting, immunofluorescence, electron microscopy, a real-time quantitative polymerase-chain-reaction assay, immunohistochemistry, flow cytometry, fibroblast motility assays, measurements of apoptosis, and zebrafish models. Correction experiments were performed by transfecting mutant fibroblasts with the nonmutated gene. All seven affected children had homozygous mutations (Thr224Asn or Glu238Lys, depending on the child&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s ethnic origin) in VPS45, which encodes a protein that regulates membrane trafficking through the endosomal system. The level of VPS45 protein was reduced, as were the VPS45 binding partners rabenosyn-5 and syntaxin-16. The level of β1 integrin was reduced on the surface of VPS45-deficient neutrophils and fibroblasts. VPS45-deficient fibroblasts were characterized by impaired motility and increased apoptosis. A zebrafish model of vps45 deficiency showed a marked paucity of myeloperoxidase-positive cells (i.e., neutrophils). Transfection of patient cells with nonmutated VPS45 corrected the migration defect and decreased apoptosis. Defective endosomal intracellular protein trafficking due to biallelic mutations in VPS45 underlies a new immunodeficiency syndrome involving impaired neutrophil function. (Funded by the National Human Genome Research Institute and others.).
Journal of clinical ultrasound : JCU, Jan 20, 2015
The most common cause of acute scrotum in prepubertal boys is torsion of the testicular or epidid... more The most common cause of acute scrotum in prepubertal boys is torsion of the testicular or epididymal appendages. The purpose of this retrospective study was to characterize the features of these lesions as viewed on sonographic (US) and color Doppler US examination. During a 220-week period, 527 male patients 0-17 years old had been referred from the pediatric emergency department for scrotal US evaluation. Torsion of the appendix testis or appendix epididymis had been diagnosed in 19 (3.6%) patients, 3-14 years old (mean, 9.4 years); those patients became our study cohort. The clinical diagnoses in 15 of those patients had been suspected testicular torsion (n = 7), trauma (n = 4), suspected epididymitis and/or orchitis (n = 3), and suspected hydrocele (n = 1). The remaining four patients had been referred owing to nonspecific pain. None of the 19 patients had had the "blue-dot sign" on physical examination. In the 19 patients diagnosed with torsion of the intrascrotal ap...
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine, 2004
Sonography is a reliable imaging tool, complementary to plain radiography in certain pediatric ch... more Sonography is a reliable imaging tool, complementary to plain radiography in certain pediatric chest disorders. It can assist in localizing and characterizing mediastinal, pleural, and pulmonary opacities. We have found that sonography is also valuable in elucidating postoperative chest radiography. In this series, our objective was to assess the value of sonography for understanding the radiologic changes in the child after esophagectomy and to highlight its ability to show the intrathoracic stomach. Sonography was performed with a 5- to 12-MHz linear array transducer via anterior, lateral, and posterior intercostal approaches of the abnormal hemithorax in supine, prone, and, when necessary, upright positions. The distended fluid- or food-filled stomach was identified on sonography as the source of the undefined thoracic opacity on plain radiography in 2 patients. The postoperative pediatric chest radiograph is often difficult to understand. Sonography can differentiate between lun...