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Nimri R.,The Jesse Z and Sara Lea Shafer Institute for Endocrinology and Diabetes | Danne T.,Diabetes Center for Children and Adolescents | Kordonouri O.,Diabetes Center for Children and Adolescents | Atlas E.,The Jesse Z and Sara Lea Shafer Institute for Endocrinology and Diabetes | And 8 more authors.
Pediatric Diabetes | Year: 2013

Background: Tight glucose control is needed to prevent long-term diabetes complications; this is hindered by the risk of hypoglycemia, especially at night. Objective: To assess the safety and efficacy of the closed-loop MD-Logic Artificial Pancreas (MDLAP), controlling nocturnal glucose levels in patients with type 1 diabetes mellitus (T1DM). Research design and methods: This was a randomized, multicenter, multinational, crossover trial conducted in Slovenia, Germany, and Israel. Twelve patients with T1DM (age 23.8±15.6yr; duration of diabetes 13.5±11.9yr; A1c 8.1±0.8%, mean± SD) were randomly assigned to participate in two sequential overnight sessions: one using continuous subcutaneous insulin infusion (CSII) and the other, closed-loop insulin delivery by MDLAP. The primary outcome was the number of hypoglycemic events below 63mg/dL. Endpoints analyses were based on sensor glucose readings. Results: Three events of nocturnal hypoglycemia occurred during CSII and none during the closed-loop control (p=0.18). The percentage of time spent in the near normal range of 63-140mg/dL was significantly higher in the overnight closed-loop sessions [76% (54-85)] than during CSII therapy [29% (11-44)] [p=0.02, median (interquartile range)]. The mean overnight glucose level was reduced by 36mg/dL with closed-loop insulin delivery (p=0.02) with a significantly less glucose variability when compared with the CSII nights (p<0.001). Conclusion: The results of this study demonstrate the ability of the MDLAP to safely improve overnight glucose control without increased risk of hypoglycemia in patients with T1DM at three different national, geographic, and clinical centers (ClinicalTrials.gov number, NCT 01238406). © 2013 John Wiley & Sons A/S. Source


Gat-Yablonski G.,The Jesse Z and Sara Lea Shafer Institute for Endocrinology and Diabetes
Pediatric clinics of North America | Year: 2011

Children's growth is a hallmark of their normal development and the association between nutrition and linear growth in children is well accepted. Growth requires an adequate supply of many different nutritional factors, some form the "building materials," whereas others play regulatory roles. In this article we describe the growth of the growth plate and discuss the role of nutritional affected hormones on this process. In addition we describe the effect of local regulators and nutritional factors on the growth process and suggest the involvement of new regulatory factors in the translation of nutrition to growth. Copyright © 2011 Elsevier Inc. All rights reserved. Source


Spiegel R.,The Genetic Institute | Dobbie A.,Chapel Allerton Hospital | Hartman C.,Hepatology and Nutrition Institute | de Vries L.,The Jesse Z and Sara Lea Shafer Institute for Endocrinology and Diabetes | And 3 more authors.
American Journal of Medical Genetics, Part A | Year: 2011

Mutations in the RFX6 gene were recently described to underlie a distinct autosomal recessive syndrome of neonatal diabetes comprising intestinal atresia and hepatobiliary abnormalities. Until now, only six patients harboring RFX6 mutations have been reported. We report on a new case due to a novel homozygous splice site mutation and update on the clinical outcome of a previously reported patient. In addition we review the clinical and molecular features of all RFX6 mutated cases to better characterize the syndrome. Our results suggest that despite the early postnatal fulminant course, patients who survive may expect a relatively favorable prognosis. © 2011 Wiley Periodicals, Inc. Source


Gat-Yablonski G.,The Jesse Z and Sara Lea Shafer Institute for Endocrinology and Diabetes | Gat-Yablonski G.,Felsenstein Medical Research Center | David R.F.-B.,The Jesse Z and Sara Lea Shafer Institute for Endocrinology and Diabetes | Bar M.,The Jesse Z and Sara Lea Shafer Institute for Endocrinology and Diabetes | And 6 more authors.
American Journal of Medical Genetics, Part A | Year: 2011

Microdeletion syndromes include numerous syndromic phenotypes associated with intellectual disability and dysmorphic features. We report on a patient with a novel microdeletion of chromosomal region 3p11.2-p12.1 containing POU1F1, chromatin-modifying protein 2B (CHMP2B), and vestigial-like 3 (VGLL3) genes. Our patient was diagnosed as having a neonatal multiple pituitary hormone [growth hormone (GH), thyroid-stimulating hormone (TSH), and prolactin] deficiency. In addition to the typical findings associated with these hormonal deficiencies, she exhibited clinical features resembling those of Laron syndrome (frontal bossing, saddle nose, small chin, blue sclera, and acromicria), with moderate intellectual disability. She also displayed an unusual growth pattern characterized by unresponsiveness to high doses of GH replacement therapy during infancy and early childhood and an accelerated growth rate beginning at the age of 4.5 years. Insulin-like growth factor (IGF)-1 levels were consistently extremely low or undetectable. Extensive medical and genetic analysis ruled out primary and secondary GH insensitivity. The distinct phenotype and the peculiar growth pattern observed in this affected patient, not reported to have been observed in other cases with POU1F1 gene inactivity, suggest that the other two deleted genes play a possible role in the development of this syndrome. This hypothesis may be supported by the fact that both the CHMP2B and VGLL3 genes are expressed in the liver and the growth plate, the two main target organs of the GH/IGF-1 axis. The homozygous deletion of the CHMP2B gene, previously associated with frontotemporal dementia, may contribute to the intellectual disability observed in this patient. © 2011 Wiley-Liss, Inc. Source


Lebenthal Y.,The Jesse Z and Sara Lea Shafer Institute for Endocrinology and Diabetes | de Vries L.,Tel Aviv University | Phillip M.,The Jesse Z and Sara Lea Shafer Institute for Endocrinology and Diabetes | Lazar L.,Tel Aviv University
Pediatric Diabetes | Year: 2010

Background: Familial type 1 diabetes mellitus (T1D) comprises parent-offspring and sib-pair subgroups.Objective: To compare the demographic and clinical characteristics in the two subgroups at diagnosis and evaluate the differences between index cases and second affected family members.Methods: Retrieved from our institutional registry of new T1D cases for the years 1979-2008 were a cohort of 194 familial cases (87 parent-offspring, 107 sib-pairs); 133 sporadic cases matched by age, gender, and year of diagnosis were selected as controls. Extracted from their medical files were demographic data, family background, clinical and laboratory findings.Results: The parent-offspring subgroup was characterized by male preponderance (p = 0.009). At diagnosis parents were significantly older than their offspring (p < 0.001) and probands were significantly younger than their affected siblings (p = 0.03). Clinical symptoms and metabolic decompensation were similar in the familial subgroups. Diabetic ketoacidosis (DKA) rate and hemoglobin A1c (HbA1c) levels were lower in second affected family members in both parent-offspring (p = 0.05 and p < 0.001) and sib-pair subgroups (p < 0.001, for both parameters). Consanguinity and T1D were more frequent in the extended family of familial than sporadic cases (p < 0.001 and p = 0.012, respectively) with no difference between the two subgroups.Conclusions: The genetic background for T1D would appear to differ not only between familial and sporadic cases but also between parent-offspring and sib-pair subgroups. Whereas differences in age of onset are attributable to both genetic and environmental factors, the less severe clinical manifestations in second affected family members may result from increased awareness or a less aggressive disease process. © 2009 John Wiley & Sons A/S. Source

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