Amar Al Shibli - Academia.edu (original) (raw)

Papers by Amar Al Shibli

Cureus, Mar 27, 2023

In the pediatric population, headache is a common presenting symptom, and migraine is often the d... more In the pediatric population, headache is a common presenting symptom, and migraine is often the diagnosis. A hemiplegic migraine is characterized by an aura and sudden-onset weakness on one side of the body that usually resolves without causing any permanent neurological damage. In this case, we present a seven-yearold male child with a known case of proximal tubular dysfunction (homozygous mutation in the SLC4A4 gene) who presented to the emergency department with a one-day history of weakness on the right side of his body. A few hours after being discharged from the hospital, he began complaining of a severe headache on the left side, accompanied by photophobia, phonophobia, and high fever. Radiology scans and laboratory workup were unremarkable, and encephalitis was ruled out. He was later diagnosed with hemiplegic migraine based on his history and clinical presentation.

Gaucher Disease (GD) is an autosomal recessive systemic lysosomal storage disorder, characterized... more Gaucher Disease (GD) is an autosomal recessive systemic lysosomal storage disorder, characterized by glucocerebroside deposition in cells of macrophage-monocyte system and accumulation of glucosylceramide in different organs as result of deficiency in lysosomal β-glycosidase (glucocerebrosidase). Accumulation of glucosylceramide in tissues leads to multisystem organ involvement including liver, spleen, bone marrow, lungs and central nervous system. GD is a rare genetic disorder. It is the most common among the lysosomal storage disorders. Around 5 cases are identified and diagnosed in UAE in 2013. Early recognition of GD is crucial as there is effective treatment with enzyme replacement which can decrease morbidity. GD should be considered as differential diagnosis of children with unexplained hepatosplenomegaly. Hereby, we report a case of Gaucher disease in a 15-monthold child, in whom a diagnosis of Gaucher disease was made early based on glucocerebrosidase levels estimation.

Case reports in pediatrics, Apr 20, 2021

Journal of clinical case reports, 2016

Mitochondrial neuro-gastrointestinal encephalomyopathy (MNGIE), is an autosomal recessive disease... more Mitochondrial neuro-gastrointestinal encephalomyopathy (MNGIE), is an autosomal recessive disease, is one of the mitochondrial disorders, and is a multisystem disease clinically defined by progressive ophthalmoplegia, peripheral neuropathy, leukoencephalopathy, mitochondrial abnormalities and severe gastrointestinal involvement. Mitochondrial disorders have clinical manifestations reflecting the fact that nearly all organ systems utilize oxidative metabolism. Clinical features often involve tissues with high energy requirements such as central and peripheral nervous systems, and eye, muscle, kidney and endocrine organs.. To the best of our knowledge there is no case report of this syndrome from Middle East and since this presents with diagnostic difficulties so is being reported.

Clinical Research in Pediatrics, 2020

Benign pancreatic hyperenzymemia (Gullo's syndrome) is characterized by increase of the pancreati... more Benign pancreatic hyperenzymemia (Gullo's syndrome) is characterized by increase of the pancreatic enzymes lipase and amylase in the absence of a pancreatic disease over a period of time (more than 12 months) Gullo's syndrome is a diagnosis of exclusion of pathological causes of deranged pancreatic enzymes. There is no clinical or pathological evidence of pancreatic disease. The disease was described mostly in adults and only few cases where reported in children. Herein, we are reporting a 3-year-old male who was diagnosed as a case of Gullo's syndrome based on the clinical and laboratory data.

Journal of Pediatric Urology

Bartter-Gitelman syndrome: an inbred family with a heterogeneous phenotype expression of a novel ... more Bartter-Gitelman syndrome: an inbred family with a heterogeneous phenotype expression of a novel variant in the CLCNKB gene

Journal of Case Reports, 2021

Background: Immobility induced hypercalcemia has been reported in few studies in pediatric popula... more Background: Immobility induced hypercalcemia has been reported in few studies in pediatric population. Although not a common presentation, children are in a state of high bone turnover, and are considered prone to the imbalance of osteoblastic and osteoclastic activity that occurs with prolonged immobility, which lead to hypercalcemia. Case Report: Here in we are reporting a case of a 10 years old child with prolonged immobilization secondary to motor vehicle accident, who suffered from traumatic pancreatitis, and nephrolithiasis. Conclusion: This case study highlights the importance of following patients with risk factors for hypercalcemia including immobilization.

Background Research demonstrates better health outcomes for both women and their infants when inf... more Background Research demonstrates better health outcomes for both women and their infants when infants are breast-fed. There is evidence that an increasing number of full-term, normal birth weight infants are being admitted to the Neonatal Intensive Care Unit (NICU) and that these infants receive less breast milk than their well full-term and preterm infant counter parts. The effect of short-term admission of full-term infants to the NICU on maternal breastfeeding selfefficacy and breastfeeding exclusivity and duration, and the facilitators of and barriers to breastfeeding success reported by these mothers, has not been well explored. Purpose The purpose of this study was to explore the relationship of breast feeding self-efficacy to breastfeeding duration and breastfeeding exclusivity of full-term infants discharged from the NICU and to explore the facilitators and barriers that influence breastfeeding success for a woman with a full-term infant in the NICU. Factors that may affect the breastfeeding selfefficacy of mothers with a full-term infant in the NICU were also explored. Method This was a mixed method study where quantitative and qualitative data were collected concurrently. The Critical Incident Technique (CIT) was used to identify the facilitators and barriers to breastfeeding success. The breastfeeding self-efficacy scale for preterm and ill infants (BFSE-SF-IP) was used to measure the mothers' breastfeeding self-efficacy. One week after the infant's discharge, the researcher contacted the mothers, who completed the BSFE and described what they thought facilitated or hindered their breastfeeding success. Mothers were contacted three weeks later to ascertain breastfeeding status and formula usage. Data on other maternal and infant variables were also collected. All data was interpreted and integrated to form a phenomenon of a successful mother breastfeeding a full-term infant in the NICU. Results The sample was comprised of 41 ethnically diverse postpartum women who were predominately married, well educated, first-time mothers, and delivered by cesarean section. Most had no prior breastfeeding experience. The Cronbach's alpha of the BSEF-SF-IP in this sample was .953. Regression analyses using the BFSE score and other factors revealed the BFSE to be the only significant predictor of breastfeeding duration and exclusivity at four weeks after discharge and accounted for 47 percent of the variance in the amount of formula used at four weeks. There was a positive correlation between breastfeeding experience, number of live births, breastfeeding at one and four weeks and BFSE scores. There was also a strong negative correlation between breastmilk pumping at one week, formula usage at one and four weeks and BFSE scores. Mothers identified 67 critical incidents as facilitators for and barriers to breastfeeding success in the NICU and one week postpartum. The most frequently cited facilitators in the NICU were nurses/lactation consultant support, and breastfeeding skills. The most common cited barriers to breastfeeding success were feeding the infant formula, separation from the baby, scheduled feedings and not enough breastmilk. After the baby was home for one week, mothers most often reported the facilitators to be family support, determination, and staying with the baby. Not having enough milk and infant not taking the breast were the most frequently cited barriers to breastfeeding success at one week.

The Open Respiratory Medicine Journal, 2021

Background: Bronchiolitis is the commonest lower respiratory tract infection, found worldwide in ... more Background: Bronchiolitis is the commonest lower respiratory tract infection, found worldwide in children < 2 years of age. Over sixty percent of cases are caused by Respiratory Syncytial Virus (RSV). The disease is known to have significant morbidity, mortality and health care costs. Its seasonal variability, manifestations and complications vary between countries. The aim of this study was to determine the epidemiological and clinical characteristics of infants hospitalized with bronchiolitis in Al Ain City, United Arab Emirates. Methods: Retrospective observational chart review was made of an unselected cohort of infants ≤ 2 years admitted to the pediatric department of Tawam hospital over a 3-year period and discharged with the diagnosis of bronchiolitis. Epidemiological data and risk factors were analyzed. Results: RSV was the commonest pathogen (51%). Hospitalizations occurred year-round but increased significantly in December and January. The patients’ median age was 5.8 m...

Global Journal of Pediatrics & Neonatal Care, Aug 21, 2019

The American Journal of Human Genetics, 1998

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome is a rare, multisystem dis... more Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome is a rare, multisystem disorder characterized clinically by ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, leukoencephalopathy, thin body habitus, and myopathy. Laboratory studies reveal defects of oxidative-phosphorylation and multiple mtDNA deletions frequently in skeletal muscle. We studied four ethnically distinct families affected with this apparently autosomal recessive disorder. Probands from each family were shown, by Southern blot, to have multiple mtDNA deletions in skeletal muscle. We mapped the MNGIE locus to 22q13.32qter, distal to D22S1161, with a maximum two-point LOD score of 6.80 at locus D22S526. Cosegregation of MNGIE with a single chromosomal region in families with diverse ethnic backgrounds suggests that we have mapped an important locus for this disorder. We found no evidence to implicate three candidate genes in this region, by using direct sequence analysis for DNA helicase II and by assaying enzyme activities for arylsulfatase A and carnitine palmitoyltransferase.

Journal of Womens Health Care, 2015

Case Reports in Pediatrics, 2021

Immune thrombocytopenia (ITP) is a disorder characterized by immune-mediated destruction of throm... more Immune thrombocytopenia (ITP) is a disorder characterized by immune-mediated destruction of thrombocytes leading to peripheral blood platelet count of <100 × 10^9/L. Primary ITP is a terminology used in the absence of other causes or disorders that may be associated with thrombocytopenia, i.e., isolated thrombocytopenia. The term secondary ITP is used if such diseases coexist. We present here a case of a 14-year-old female diagnosed with immune thrombocytopenia. When her evaluation was not strongly supportive of primary ITP, she was screened and proved to have a concomitant Hashimoto thyroiditis. Contrary to the popular belief about secondary ITP in adult population, treatment of our patient's hypothyroidism did not improve her platelet's count, and the patient needed multiple immunosuppressive medications to improve her condition.

In the United Arab Emirates, BCG (Bacillus Calmette-Guérin) is administered to all newborns. We p... more In the United Arab Emirates, BCG (Bacillus Calmette-Guérin) is administered to all newborns. We present here a young infant with an inborn error of immunity (IEI) who developed fatal adverse events to this live-attenuated vaccine. This male infant received BCG (Serum Institute of India Pvt., Ltd., India) on Day 11 of life. On Day 25, he developed fever, followed by cervical lymphadenitis and bilateral otitis media with fluid drainage. On Day 118, he was admitted with severe hemophagocytic lymphohistiocytosis (HLH), and passed away on Day 145. The diagnostic exome sequencing test identified a hemizygous nonsense variant, NM_000397.3(CYBB):c.676C>T, p.Arg226* (rs137854592). Pathogenic variants of CYBB [cytochrome b(-245), beta subunit; Mendelian Inheritance in Man [MIM] accession code, 300481] are known to cause “immunodeficiency 34, mycobacteriosis, X-linked” (IMD34, MIM#300645) and “chronic granulomatous disease, X-linked” (CGDX, MIM#306400). The natural history of his illness is...

Case Reports in Pediatrics

Familial hepatic veno-occlusive disease with immunodeficiency (VODI, OMIM: 235550) is a rare form... more Familial hepatic veno-occlusive disease with immunodeficiency (VODI, OMIM: 235550) is a rare form of combined immune deficiency (CID) that presents in the first few months of life with failure to thrive, recurrent infections, opportunistic infections along with liver impairment. Herein, we are describing a Pakistani patient with a homozygous novel variant in the SP110 gene, presenting with classical phenotypic manifestations of VODI. He presented at the age of 3 months with opportunistic infections and later developed liver failure. Conclusion. Hepatic veno-occlusive disease with immunodeficiency is a rare cause of immunodeficiency, and this is the first case report from the Middle East in a patient of Pakistani origin. It is important to have a high suspicion for this disease, in patients presenting early life with a picture of CID and deranged liver function, as the earlier the diagnosis and treatment, the better the prognosis.

Biomedical Journal of Scientific & Technical Research

World journal of clinical pediatrics, Jan 8, 2017

To determine the true prevalence of thrombocytosis in children less than 2 years of age with bron... more To determine the true prevalence of thrombocytosis in children less than 2 years of age with bronchiolitis, its association with risk factors, disease severity and thromboembolic complications. A retrospective observational medical chart review of 305 infants aged two years or less hospitalized for bronchiolitis. Clinical outcomes included disease severity, duration of hospital stay, admission to pediatric intensive care unit, or death. They also included complications of thrombocytosis, including thromboembolic complications such as cerebrovascular accident, acute coronary syndrome, deep venous thrombosis, pulmonary embolus, mesenteric thrombosis and arterial thrombosis and also hemorrhagic complications such as bleeding (spontaneous hemorrhage in the skin, mucous membranes, gastrointestinal, respiratory, or genitourinary tracts). The median age was 4.7 mo and 179 were males (59%). Respiratory syncytial virus was isolated in 268 (84%), adenovirus in 23 (7%) and influenza virus A or...

World journal of methodology, Jan 26, 2015

Bartter and Gitelman syndromes (BS and GS) are inherited disorders resulting in defects in renal ... more Bartter and Gitelman syndromes (BS and GS) are inherited disorders resulting in defects in renal tubular handling of sodium, potassium and chloride. Previously considered as genotypic and phenotypic heterogeneous diseases, recent evidence suggests that they constitute a spectrum of disease caused by different genetic mutations with the molecular defects of chloride reabsorption originating at different sites of the nephron in each condition. Although they share some characteristic metabolic abnormalities such as hypokalemia, metabolic alkalosis, hyperplasia of the juxtaglomerular apparatus with hyperreninemia, hyperaldosteronism, the clinical and laboratory manifestations may not always allow distinction between them. Diuretics tests, measuring the changes in urinary fractional excretion of chloride from baseline after administration of either hydrochlorothiazide or furosemide show very little change (< 2.3%) in the fractional excretion of chloride from baseline in GS when compar...