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history of endocrine, gynecological or cerebral illness. Cross-sectional part of the study: 558 boys and 236 girls, median (range) age; boys: 11.6 (6.1–19.8) and girls: 10.7 (6.0–14.9). Longitudinal part of the study, 84 girls and 100 boys from two of
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and one pediatric patient) with RTHαD211G as previously described by van Gucht and coworkers ( 19 ), 4 patients with RTHαA263S and 2 patients with RTHαR384H as previously described by Demir and coworkers, and van Gucht and coworkers ( 18 , 19 ). With
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children from 7 to 18 years of age ( 4 ). Short stature is commonly seen in pediatric endocrinology units in routine clinical practice ( 5 ). Considering the fact that immediate and effective interventions can improve final adult height, early
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CNS lesions. Syndrome Critical region Main molecular diagnosis Prevalence of CPP (%) Other main clinical features Putative mechanism(s) or gene involved in CPP Temple syndrome 14q32.2 UPD(14)mat or DLK1/MEG3 :IG
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insulin binding, its receptor is auto-phosphorylated and activates several downstream targets such as IRS1 and kinases such as PI3K, and AKT, which are critical nodes in the insulin signaling pathway ( 18 ). PI3K/AKT pathway regulates glucose uptake
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Department of Neuroscience DNS, University of Padova, Padova, Italy
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Endocrine Disease Unit, University-Hospital of Padova, Padova, Italy
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cortisol levels ( 16 ), and recently it has been reported as an adjuvant tool to increase the diagnostic accuracy of the corticotropin stimulation test in adult or pediatric patients with AI ( 13 , 17 ). We examined a series of consecutive patients with
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conditions. Such pathways have been proposed, including stimulation by catecholamines ( 34 ) and cytokines ( 35 , 36 ). While these pathways may explain the dissociation of cortisol and ACTH relationships in critical illness and post-surgery ( 35 , 36
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dose of zolendronate was given. Due to disease progression, the patient succumbed to his illness after 2 weeks. It was concluded that about 71% of the variance in serum calcium correlated with PTH-RP levels and that PTH-RP reduction may be a result of
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-dose. Discussion This first Africa and Middle East survey of physicians and their experience in treating patients with PAI revealed significant deficiencies in respect of obtaining critical diagnostic tests necessary for making the diagnosis of PAI. These
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Medical Clinic V (Nephrology, Hypertensiology, Rheumatology, Endocrinology, Diabetology), Medical Faculty Mannheim, Ruperto-Carola University of Heidelberg, Heidelberg, Germany
Synlab Medical Center of Human Genetics Mannheim, Mannheim, Germany
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for example, DBP decreases due to critical illness thus consequently decreasing total serum 25(OH)D ( 164 ). It is also important to note that serum 25(OH)D concentrations in observational studies are mainly derived from sunlight-induced vitamin D