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Papers by David Gillis

The Journal of Steroid Biochemistry and Molecular Biology, 2010

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European Journal of Endocrinology, 2007

Background: Congenital hyperinsulinism (CH) is treated surgically in many centers (near-total and... more Background: Congenital hyperinsulinism (CH) is treated surgically in many centers (near-total and partial pancreatectomy for diffuse and focal disease respectively). Most patients treated with near-total pancreatectomy developed diabetes during childhood/puberty. CH patients are at increased risk of neurodevelopmental disorders, some being severe, which are reported to occur in 14–44% of patients from highly heterogenous cohorts. Over the last few decades, we have treated children with CH conservatively without surgery. The aim of this study was to assess the neurodevelopmental outcome of these patients. Design and methods: The study included 21 Ashkenazi CH medically treated patients: 11 homozygotes (diffuse disease) and 9 heterozygotes with mutations on the paternal allele (presumed focal disease). The mean age was 13.7 years (range 8–23). Neurodevelopmental outcomes were assessed by telephone interviews of parents, using a standard questionnaire. Closest age siblings of CH patien...

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The Journal of clinical endocrinology and metabolism, Jul 16, 2018

Five different activating PTH/PTHrP receptor (PTHR1) mutations have been reported as causes of Ja... more Five different activating PTH/PTHrP receptor (PTHR1) mutations have been reported as causes of Jansen metaphyseal chondrodysplasia (JMC), a rare disorder characterized by severe growth plate abnormalities and PTH-independent hypercalcemia. Assess the natural history of clinical and laboratory findings in twenty-four JMC patients and characterize the disease-causing mutant receptors in vitro. The H223R mutation occurred in 18 patients. T410P, I458R and I458K each occurred in single cases; T410R was present in a father and his two sons. Laboratory records were analyzed individually and in aggregate. Postnatal calcium levels were normal in most patients, but elevated between 0.15-10 years (11.8±1.37 mg/dL) and tended to normalize in adults (10.0±1.03 mg/dL). Mean phosphate levels were at the lower end of the age-specific normal ranges. Urinary calcium/creatinine (mg/mg) was consistently elevated (children: 0.80±0.40; adults: 0.28±0.19). Adult heights were well below the 3rd percentile ...

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American journal of medical genetics. Part A, 2018

The primary cilium is a key organelle in numerous physiological and developmental processes. Gene... more The primary cilium is a key organelle in numerous physiological and developmental processes. Genetic defects in the formation of this non-motile structure, in its maintenance and function, underlie a wide array of ciliopathies in human, including craniofacial, brain and heart malformations, and retinal and hearing defects. We used exome sequencing to study the molecular basis of disease in an 11-year-old female patient who suffered from growth retardation, global developmental delay with absent speech acquisition, agenesis of corpus callosum and paucity of white matter, sensorineural deafness, retinitis pigmentosa, vertebral anomalies, patent ductus arteriosus, and facial dysmorphism reminiscent of STAR syndrome, a suspected ciliopathy. A homozygous variant, c.870_871del, was identified in the CDK10 gene, predicted to cause a frameshift, p.Trp291Alafs*18, in the cyclin-dependent kinase 10 protein. CDK10 mRNAs were detected in patient cells and do not seem to undergo non-sense mediat...

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Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, Jan 27, 2017

Normal changes in Free triiodothyronine (FT3), Free thyroxine (FT4) and thyroid stimulating hormo... more Normal changes in Free triiodothyronine (FT3), Free thyroxine (FT4) and thyroid stimulating hormone (TSH) levels over the lifespan and differences between genders are not well documented, mainly because even the largest-scale studies available include relatively small cohorts. The aim of this study was to define age-related trends including gender differences based on reliable data. A large database including serum thyroid tests drawn in community clinics was studied. Free T3 (FT3), free T4 (FT4) and TSH levels from 527,564 sera taken from patients age 1 year or greater were included. After highly extensive exclusion criteria applied in order to remove all samples that may have been taken from unhealthy people, 27,940 samples remained. These were stratified by decades of age and by gender. FT3 decreases throughout life, significantly more so among females, with equalization between genders in the elderly. FT4 declines, to a lesser extent, also more among females than among males. Am...

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The Journal of Clinical Endocrinology Metabolism, Jul 2, 2013

... Address all correspondence and requests for reprints to: Harry J. Hirsch, Department of Pedia... more ... Address all correspondence and requests for reprints to: Harry J. Hirsch, Department of Pediatrics, Shaare Zedek Medical Center, POB 3235, Jerusalem ... Endocr Rev 2:186–209. Abstract/FREE Full Text. ↵ Nafstad P, Samuelsen SO, Irgens LM, Bjerkedal T 2002 Serum luteinizing ...

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J Clin Endocrinol Metab, 2010

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European Journal of Endocrinology, 2016

Objective We previously reported increasing free T3 (FT3) to free T4 (FT4) ratios as thyroid-stim... more Objective We previously reported increasing free T3 (FT3) to free T4 (FT4) ratios as thyroid-stimulating hormone (TSH) increases within the normal range in children. It is not known if this phenomenon is age-related among humans, as previously reported in rats. This study examines the relationships between TSH and FT3/FT4 ratios in different ages. Design Retrospective examination of thyroid tests from patients without thyroid disease from community clinics. Methods Free T3, free T4, and TSH levels from 527 564 sera collected from patients aged 1 year or greater were studied. Exclusion criteria were the following: missing data, TSH greater than 7.5mIU/L, and medications that may interfere with thyroid hormone activity. A total of 27 940 samples remaining after exclusion were stratified by age. Samples with available anthropometric data were additionally stratified for body mass index (BMI). Correlations of TSH to FT4, FT3, and FT3/FT4 ratios by age group were examined. Results Up to ...

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Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, Jan 20, 2016

In the glucagon stimulation test (GST), occurrence of peak growth hormone levels at typical times... more In the glucagon stimulation test (GST), occurrence of peak growth hormone levels at typical times is an indication of normal secretion. This has not been studied for the clonidine stimulation test (CST). The 120 minute time is rarely the peak and previous reports suggest it can be omitted. This study aimed to evaluate the meaning and utility of peak time in the CST and the significance of shortening the test. CSTs performed on 250 consecutive subjects in a single center were evaluated for result (GH sufficient or deficient) and result of confirmatory GST with respect to the peak time of the CST. Peak GH occurred typically at 30, 60 and 90 minutes (91.6% of tests, versus 60% expected) (p<0.001). 132/155 (85.15%) sufficient tests occurred at typical times, versus 66/97 (68%) deficient tests (p<0.05). Typicality of timing did not follow in the confirmatory GST and did not predict the final result of testing. Removal of the 120 minute sample affected the final result in 0.4% of ev...

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Clinical Endocrinology, 2015

Thyroid stimulating hormone (TSH) levels within populations do not follow Gaussian distribution a... more Thyroid stimulating hormone (TSH) levels within populations do not follow Gaussian distribution and normal limits are derived after mathematical normalization. The clinical relevance of these limits is unknown. The objective of this study was to compare upper and lower TSH limits by four data-normalization methods with non-normalized data and assess their clinical relevance. Results of blood samples taken by community physicians and stored in a computerized data base were analyzed after removing samples from patients with evidence of thyroid illness. TSH values were normalized by the Hoffmann and Tukey methods and each method with natural log transformation. Non-normalized data for TSH in the uppermost and lowermost percentile were also calculated. Clinical relevance was determined by alterations in thyroid hormone levels at, below and above the limits for each method. The maximal reduction from non-normalized data for the upper normal limit (UNL) was by the Hoffman method (up to 43%=3.1mIU/L). The maximal increase for the lower normal limit (LNL) was also by the Hoffman method (708%= 0.81mIU/L). There was very limited difference in average FT3 and FT4 between patients with TSH within, below or above the normal range for all methods. Different normalization methods alter the normal limits greatly. However, in individuals without thyroid illness, thyroid hormone values are stable over a wide range of TSH levels including beyond the UNL for all methods. Indeed there may be no true universal upper TSH cutoff level and clinical decision-making cannot rely on these calculated limits. This article is protected by copyright. All rights reserved.

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Encyclopedia of Endocrine Diseases, 2004

11β-Hydroxylase enzymes CYP11B1 and CYP11B2 catalyze the final biosynthetic steps in the producti... more 11β-Hydroxylase enzymes CYP11B1 and CYP11B2 catalyze the final biosynthetic steps in the production of cortisol and aldosterone. Deficiency of CYP11B1 is the second most common cause of congenital adrenal hyperplasia, causing virilization and, in many cases, hypertension. CYP11B2 deficiency is characterized by a neonatal salt-wasting syndrome without virilization.

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Pediatrics, 1993

Henoch-Schönlein purpura (HSP) usually affects children older than 2 years. Its occurrence in in... more Henoch-Schönlein purpura (HSP) usually affects children older than 2 years. Its occurrence in infants is considered rare.1 Infantile HSP has distinct features. Previous reports emphasized the presence of edema2-8 and the paucity of gastrointestinal and renal symptoms.2 Facial purpura has been reported by some authors.3-8 We describe seven infants with HSP, where the most common features were edema and diffuse purpura involving the face and ears, and discuss the possible mechanisms for this unusual site of the purpura. PATIENTS AND METHODS During 1978 through 1992, 145 children with HSP were hospitalized at the Departments of Pediatrics of the Hadassah University Hospitals at Mount Scopus and Ein Karem, Jerusalem.

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International journal of pediatric obesity : IJPO : an official journal of the International Association for the Study of Obesity, 2008

The significant rise in the prevalence of obesity in children and adolescents over the past three... more The significant rise in the prevalence of obesity in children and adolescents over the past three decades has led to a rise in the incidence of severe insulin resistance and consequently of type 2 diabetes in this age group. Type 2 diabetes is caused by a combination of increased insulin resistance and decreased insulin secretion. Peripheral insulin resistance is associated with lipid partitioning in specific compartments, i.e., viscera, muscle and liver, more than with obesity per se. The development of an insulin secretory defect is probably a secondary event evolving gradually. Initially only the first phase of insulin secretion is reduced, but later, in overt type 2 diabetes, poor early and late phase insulin secretion are noted as well as defective pro-insulin processing. As glucose metabolic defects deteriorate more rapidly in children than in adults, early identification of children with altered glucose metabolism is important in order to quantify public health needs and to a...

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Journal of medical genetics, 2014

Trm10 is a tRNA m(1)G9 methyltransferase, which in yeast modifies 12 different tRNA species, yet ... more Trm10 is a tRNA m(1)G9 methyltransferase, which in yeast modifies 12 different tRNA species, yet is considered non-essential for viability under standard growth conditions. In humans, there are three Trm10 orthologs, one mitochondrial and two presumed cytoplasmic. A nonsense mutation in one of the cytoplasmic orthologs (TRMT10A) has recently been associated with microcephaly, intellectual disability, short stature and adolescent onset diabetes. The subjects were three patients who suffered from microcephaly, intellectual disability, short stature, delayed puberty, seizures and disturbed glucose metabolism, mainly hyperinsulinaemic hypoglycaemia. A homozygous Gly206Arg (G206R) mutation in the TRMT10A gene was identified using whole exome sequencing. The mutation segregated in the family and was absent from large control cohorts. Determination of the methylation activity of the expressed wild-type (WT) and variant TRMT10A enzymes with transcripts of (32)P -tRNA(Gly) GCC as a substrate...

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Journal of pediatric endocrinology & metabolism : JPEM, Jan 5, 2015

Antenatal type I Bartter syndrome (ABS) is usually identified by the presence of polyhydramnios, ... more Antenatal type I Bartter syndrome (ABS) is usually identified by the presence of polyhydramnios, premature delivery, hypokalemia, metabolic alkalosis, hypercalciuria, and nephrocalcinosis caused by mutations in the Na-K-2Cl cotransporter (NKCC2)-encoding SLC12A1 gene. In this report, we describe a novel presentation of this syndrome with hypercalcemic hypercalciuric hyperparathyroidism, and review the literature of the variable atypical presentations of ABS.

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Pediatric Diabetes, 2011

Type 1 diabetes is an autoimmune disease occurring in genetically susceptible individuals. The pr... more Type 1 diabetes is an autoimmune disease occurring in genetically susceptible individuals. The precipitating cause is unclear. Recently, the Second Lebanon War exposed a large civilian population in northern Israel to significant psychological stress in the form of repeated barrages of missile attacks. We hypothesized that trends in regional incidence of type 1 diabetes before and after the war would reflect an association with stress. All type 1 diabetes patients aged 0-17 yr who were reported to the Israel Juvenile Diabetes Register (n = 1822) in the four pre-war (2002-2005) and two post-war years (2006-2007) were included in the study. The patients were stratified by gender, age, ethnicity, family history of type 1 diabetes, season at diagnosis, and region of residency, namely, those who lived in the northern regions that were attacked and those in other regions. The post-war incidence of type 1 diabetes was increased in the northern regions (rate ratio, RR = 1.27; p = 0.037), with no change in the other regions. This change was more prominent in males (RR = 1.55; p = 0.005) but similar in summer and winter, in different ages, and in different ethnic groups. There was no change in the proportion of new patients with a family history of the disease. For the first time in a large population, we found a positive association between the trauma of war and an increase in the incidence of type 1 diabetes in children and adolescents. The increase in incidence was not associated with genetic susceptibility to the disease.

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Pediatric Dermatology, 1994

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Pediatric Diabetes, 2014

The insulin requirement for type 1 diabetes during prolonged fasting is unclear. In order to defi... more The insulin requirement for type 1 diabetes during prolonged fasting is unclear. In order to define this for clinical purposes, we investigated the total insulin dose associated with successful completion of a 25 h religious fast. Questionnaires were filled in during telephone interviews performed before and after 88 fasts in 57 young individuals with type 1 diabetes (age 20.4 ± 5.3, range: 12.3-31.2 yr). Duration of their diabetes was 8.7 ± 6.1 yr (range: 0.5-21.8) and latest HbA1c was 8.5 ± 1.9% (5.7-13.7). Twenty-eight patients fasted using multiple daily injections (MDI) and 30 were on continuous subcutaneous insulin infusion (CSII), including one who fasted in both categories. Subjects were instructed either to act as they had done for previous successful fasts or, for first-time fasts, to inject half their daily basal insulin injection or halve their basal CSII rate throughout the fast. The total daily insulin dose associated with successful completion of the fast was determined. Among those who completed the fast, average total insulin was 0.19 ± 0.16 U/kg, patients who discontinued their fast took on average 0.34 ± 0.15 U/kg. Seven MDI patients and 12 CSII patients terminated their fast early, mostly for mild hypoglycemia. No severe hypoglycemia or other serious adverse event occurred during any of the fasts. Fasting for 25 h is safe and can be undertaken in individuals with type 1 diabetes. The recommended total daily dose is 0.2 U/kg/day. This recommendation may possibly be used for other situations in which abstention from oral intake is required.

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The Journal of Clinical Endocrinology & Metabolism, 2014

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Vaccine, 2002

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The Journal of Steroid Biochemistry and Molecular Biology, 2010

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European Journal of Endocrinology, 2007

Background: Congenital hyperinsulinism (CH) is treated surgically in many centers (near-total and... more Background: Congenital hyperinsulinism (CH) is treated surgically in many centers (near-total and partial pancreatectomy for diffuse and focal disease respectively). Most patients treated with near-total pancreatectomy developed diabetes during childhood/puberty. CH patients are at increased risk of neurodevelopmental disorders, some being severe, which are reported to occur in 14–44% of patients from highly heterogenous cohorts. Over the last few decades, we have treated children with CH conservatively without surgery. The aim of this study was to assess the neurodevelopmental outcome of these patients. Design and methods: The study included 21 Ashkenazi CH medically treated patients: 11 homozygotes (diffuse disease) and 9 heterozygotes with mutations on the paternal allele (presumed focal disease). The mean age was 13.7 years (range 8–23). Neurodevelopmental outcomes were assessed by telephone interviews of parents, using a standard questionnaire. Closest age siblings of CH patien...

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The Journal of clinical endocrinology and metabolism, Jul 16, 2018

Five different activating PTH/PTHrP receptor (PTHR1) mutations have been reported as causes of Ja... more Five different activating PTH/PTHrP receptor (PTHR1) mutations have been reported as causes of Jansen metaphyseal chondrodysplasia (JMC), a rare disorder characterized by severe growth plate abnormalities and PTH-independent hypercalcemia. Assess the natural history of clinical and laboratory findings in twenty-four JMC patients and characterize the disease-causing mutant receptors in vitro. The H223R mutation occurred in 18 patients. T410P, I458R and I458K each occurred in single cases; T410R was present in a father and his two sons. Laboratory records were analyzed individually and in aggregate. Postnatal calcium levels were normal in most patients, but elevated between 0.15-10 years (11.8±1.37 mg/dL) and tended to normalize in adults (10.0±1.03 mg/dL). Mean phosphate levels were at the lower end of the age-specific normal ranges. Urinary calcium/creatinine (mg/mg) was consistently elevated (children: 0.80±0.40; adults: 0.28±0.19). Adult heights were well below the 3rd percentile ...

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American journal of medical genetics. Part A, 2018

The primary cilium is a key organelle in numerous physiological and developmental processes. Gene... more The primary cilium is a key organelle in numerous physiological and developmental processes. Genetic defects in the formation of this non-motile structure, in its maintenance and function, underlie a wide array of ciliopathies in human, including craniofacial, brain and heart malformations, and retinal and hearing defects. We used exome sequencing to study the molecular basis of disease in an 11-year-old female patient who suffered from growth retardation, global developmental delay with absent speech acquisition, agenesis of corpus callosum and paucity of white matter, sensorineural deafness, retinitis pigmentosa, vertebral anomalies, patent ductus arteriosus, and facial dysmorphism reminiscent of STAR syndrome, a suspected ciliopathy. A homozygous variant, c.870_871del, was identified in the CDK10 gene, predicted to cause a frameshift, p.Trp291Alafs*18, in the cyclin-dependent kinase 10 protein. CDK10 mRNAs were detected in patient cells and do not seem to undergo non-sense mediat...

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Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, Jan 27, 2017

Normal changes in Free triiodothyronine (FT3), Free thyroxine (FT4) and thyroid stimulating hormo... more Normal changes in Free triiodothyronine (FT3), Free thyroxine (FT4) and thyroid stimulating hormone (TSH) levels over the lifespan and differences between genders are not well documented, mainly because even the largest-scale studies available include relatively small cohorts. The aim of this study was to define age-related trends including gender differences based on reliable data. A large database including serum thyroid tests drawn in community clinics was studied. Free T3 (FT3), free T4 (FT4) and TSH levels from 527,564 sera taken from patients age 1 year or greater were included. After highly extensive exclusion criteria applied in order to remove all samples that may have been taken from unhealthy people, 27,940 samples remained. These were stratified by decades of age and by gender. FT3 decreases throughout life, significantly more so among females, with equalization between genders in the elderly. FT4 declines, to a lesser extent, also more among females than among males. Am...

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The Journal of Clinical Endocrinology Metabolism, Jul 2, 2013

... Address all correspondence and requests for reprints to: Harry J. Hirsch, Department of Pedia... more ... Address all correspondence and requests for reprints to: Harry J. Hirsch, Department of Pediatrics, Shaare Zedek Medical Center, POB 3235, Jerusalem ... Endocr Rev 2:186–209. Abstract/FREE Full Text. ↵ Nafstad P, Samuelsen SO, Irgens LM, Bjerkedal T 2002 Serum luteinizing ...

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J Clin Endocrinol Metab, 2010

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European Journal of Endocrinology, 2016

Objective We previously reported increasing free T3 (FT3) to free T4 (FT4) ratios as thyroid-stim... more Objective We previously reported increasing free T3 (FT3) to free T4 (FT4) ratios as thyroid-stimulating hormone (TSH) increases within the normal range in children. It is not known if this phenomenon is age-related among humans, as previously reported in rats. This study examines the relationships between TSH and FT3/FT4 ratios in different ages. Design Retrospective examination of thyroid tests from patients without thyroid disease from community clinics. Methods Free T3, free T4, and TSH levels from 527 564 sera collected from patients aged 1 year or greater were studied. Exclusion criteria were the following: missing data, TSH greater than 7.5mIU/L, and medications that may interfere with thyroid hormone activity. A total of 27 940 samples remaining after exclusion were stratified by age. Samples with available anthropometric data were additionally stratified for body mass index (BMI). Correlations of TSH to FT4, FT3, and FT3/FT4 ratios by age group were examined. Results Up to ...

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Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, Jan 20, 2016

In the glucagon stimulation test (GST), occurrence of peak growth hormone levels at typical times... more In the glucagon stimulation test (GST), occurrence of peak growth hormone levels at typical times is an indication of normal secretion. This has not been studied for the clonidine stimulation test (CST). The 120 minute time is rarely the peak and previous reports suggest it can be omitted. This study aimed to evaluate the meaning and utility of peak time in the CST and the significance of shortening the test. CSTs performed on 250 consecutive subjects in a single center were evaluated for result (GH sufficient or deficient) and result of confirmatory GST with respect to the peak time of the CST. Peak GH occurred typically at 30, 60 and 90 minutes (91.6% of tests, versus 60% expected) (p<0.001). 132/155 (85.15%) sufficient tests occurred at typical times, versus 66/97 (68%) deficient tests (p<0.05). Typicality of timing did not follow in the confirmatory GST and did not predict the final result of testing. Removal of the 120 minute sample affected the final result in 0.4% of ev...

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Clinical Endocrinology, 2015

Thyroid stimulating hormone (TSH) levels within populations do not follow Gaussian distribution a... more Thyroid stimulating hormone (TSH) levels within populations do not follow Gaussian distribution and normal limits are derived after mathematical normalization. The clinical relevance of these limits is unknown. The objective of this study was to compare upper and lower TSH limits by four data-normalization methods with non-normalized data and assess their clinical relevance. Results of blood samples taken by community physicians and stored in a computerized data base were analyzed after removing samples from patients with evidence of thyroid illness. TSH values were normalized by the Hoffmann and Tukey methods and each method with natural log transformation. Non-normalized data for TSH in the uppermost and lowermost percentile were also calculated. Clinical relevance was determined by alterations in thyroid hormone levels at, below and above the limits for each method. The maximal reduction from non-normalized data for the upper normal limit (UNL) was by the Hoffman method (up to 43%=3.1mIU/L). The maximal increase for the lower normal limit (LNL) was also by the Hoffman method (708%= 0.81mIU/L). There was very limited difference in average FT3 and FT4 between patients with TSH within, below or above the normal range for all methods. Different normalization methods alter the normal limits greatly. However, in individuals without thyroid illness, thyroid hormone values are stable over a wide range of TSH levels including beyond the UNL for all methods. Indeed there may be no true universal upper TSH cutoff level and clinical decision-making cannot rely on these calculated limits. This article is protected by copyright. All rights reserved.

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Encyclopedia of Endocrine Diseases, 2004

11β-Hydroxylase enzymes CYP11B1 and CYP11B2 catalyze the final biosynthetic steps in the producti... more 11β-Hydroxylase enzymes CYP11B1 and CYP11B2 catalyze the final biosynthetic steps in the production of cortisol and aldosterone. Deficiency of CYP11B1 is the second most common cause of congenital adrenal hyperplasia, causing virilization and, in many cases, hypertension. CYP11B2 deficiency is characterized by a neonatal salt-wasting syndrome without virilization.

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Pediatrics, 1993

Henoch-Schönlein purpura (HSP) usually affects children older than 2 years. Its occurrence in in... more Henoch-Schönlein purpura (HSP) usually affects children older than 2 years. Its occurrence in infants is considered rare.1 Infantile HSP has distinct features. Previous reports emphasized the presence of edema2-8 and the paucity of gastrointestinal and renal symptoms.2 Facial purpura has been reported by some authors.3-8 We describe seven infants with HSP, where the most common features were edema and diffuse purpura involving the face and ears, and discuss the possible mechanisms for this unusual site of the purpura. PATIENTS AND METHODS During 1978 through 1992, 145 children with HSP were hospitalized at the Departments of Pediatrics of the Hadassah University Hospitals at Mount Scopus and Ein Karem, Jerusalem.

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International journal of pediatric obesity : IJPO : an official journal of the International Association for the Study of Obesity, 2008

The significant rise in the prevalence of obesity in children and adolescents over the past three... more The significant rise in the prevalence of obesity in children and adolescents over the past three decades has led to a rise in the incidence of severe insulin resistance and consequently of type 2 diabetes in this age group. Type 2 diabetes is caused by a combination of increased insulin resistance and decreased insulin secretion. Peripheral insulin resistance is associated with lipid partitioning in specific compartments, i.e., viscera, muscle and liver, more than with obesity per se. The development of an insulin secretory defect is probably a secondary event evolving gradually. Initially only the first phase of insulin secretion is reduced, but later, in overt type 2 diabetes, poor early and late phase insulin secretion are noted as well as defective pro-insulin processing. As glucose metabolic defects deteriorate more rapidly in children than in adults, early identification of children with altered glucose metabolism is important in order to quantify public health needs and to a...

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Journal of medical genetics, 2014

Trm10 is a tRNA m(1)G9 methyltransferase, which in yeast modifies 12 different tRNA species, yet ... more Trm10 is a tRNA m(1)G9 methyltransferase, which in yeast modifies 12 different tRNA species, yet is considered non-essential for viability under standard growth conditions. In humans, there are three Trm10 orthologs, one mitochondrial and two presumed cytoplasmic. A nonsense mutation in one of the cytoplasmic orthologs (TRMT10A) has recently been associated with microcephaly, intellectual disability, short stature and adolescent onset diabetes. The subjects were three patients who suffered from microcephaly, intellectual disability, short stature, delayed puberty, seizures and disturbed glucose metabolism, mainly hyperinsulinaemic hypoglycaemia. A homozygous Gly206Arg (G206R) mutation in the TRMT10A gene was identified using whole exome sequencing. The mutation segregated in the family and was absent from large control cohorts. Determination of the methylation activity of the expressed wild-type (WT) and variant TRMT10A enzymes with transcripts of (32)P -tRNA(Gly) GCC as a substrate...

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Journal of pediatric endocrinology & metabolism : JPEM, Jan 5, 2015

Antenatal type I Bartter syndrome (ABS) is usually identified by the presence of polyhydramnios, ... more Antenatal type I Bartter syndrome (ABS) is usually identified by the presence of polyhydramnios, premature delivery, hypokalemia, metabolic alkalosis, hypercalciuria, and nephrocalcinosis caused by mutations in the Na-K-2Cl cotransporter (NKCC2)-encoding SLC12A1 gene. In this report, we describe a novel presentation of this syndrome with hypercalcemic hypercalciuric hyperparathyroidism, and review the literature of the variable atypical presentations of ABS.

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Pediatric Diabetes, 2011

Type 1 diabetes is an autoimmune disease occurring in genetically susceptible individuals. The pr... more Type 1 diabetes is an autoimmune disease occurring in genetically susceptible individuals. The precipitating cause is unclear. Recently, the Second Lebanon War exposed a large civilian population in northern Israel to significant psychological stress in the form of repeated barrages of missile attacks. We hypothesized that trends in regional incidence of type 1 diabetes before and after the war would reflect an association with stress. All type 1 diabetes patients aged 0-17 yr who were reported to the Israel Juvenile Diabetes Register (n = 1822) in the four pre-war (2002-2005) and two post-war years (2006-2007) were included in the study. The patients were stratified by gender, age, ethnicity, family history of type 1 diabetes, season at diagnosis, and region of residency, namely, those who lived in the northern regions that were attacked and those in other regions. The post-war incidence of type 1 diabetes was increased in the northern regions (rate ratio, RR = 1.27; p = 0.037), with no change in the other regions. This change was more prominent in males (RR = 1.55; p = 0.005) but similar in summer and winter, in different ages, and in different ethnic groups. There was no change in the proportion of new patients with a family history of the disease. For the first time in a large population, we found a positive association between the trauma of war and an increase in the incidence of type 1 diabetes in children and adolescents. The increase in incidence was not associated with genetic susceptibility to the disease.

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Pediatric Dermatology, 1994

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Pediatric Diabetes, 2014

The insulin requirement for type 1 diabetes during prolonged fasting is unclear. In order to defi... more The insulin requirement for type 1 diabetes during prolonged fasting is unclear. In order to define this for clinical purposes, we investigated the total insulin dose associated with successful completion of a 25 h religious fast. Questionnaires were filled in during telephone interviews performed before and after 88 fasts in 57 young individuals with type 1 diabetes (age 20.4 ± 5.3, range: 12.3-31.2 yr). Duration of their diabetes was 8.7 ± 6.1 yr (range: 0.5-21.8) and latest HbA1c was 8.5 ± 1.9% (5.7-13.7). Twenty-eight patients fasted using multiple daily injections (MDI) and 30 were on continuous subcutaneous insulin infusion (CSII), including one who fasted in both categories. Subjects were instructed either to act as they had done for previous successful fasts or, for first-time fasts, to inject half their daily basal insulin injection or halve their basal CSII rate throughout the fast. The total daily insulin dose associated with successful completion of the fast was determined. Among those who completed the fast, average total insulin was 0.19 ± 0.16 U/kg, patients who discontinued their fast took on average 0.34 ± 0.15 U/kg. Seven MDI patients and 12 CSII patients terminated their fast early, mostly for mild hypoglycemia. No severe hypoglycemia or other serious adverse event occurred during any of the fasts. Fasting for 25 h is safe and can be undertaken in individuals with type 1 diabetes. The recommended total daily dose is 0.2 U/kg/day. This recommendation may possibly be used for other situations in which abstention from oral intake is required.

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The Journal of Clinical Endocrinology & Metabolism, 2014

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Vaccine, 2002

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