Endocrine Abstracts

Marshall-Smith syndrome (MSS) is a congenital disorder characterised by developmental delay, failure to thrive and skeletal abnormalities such as accelerated osseous development, osteopenia, bullet-shaped middle phalanges and kyphoscoliosis. MSS is caused by truncating or frameshift mutations of the nuclear factor I/X (NFIX) gene, which encodes a ubiquitously expressed transcription factor that regulates expression of viral and cellular genes, i...

Marshall-Smith syndrome (MSS) is a congenital disorder characterised by developmental delay, failure to thrive and skeletal abnormalities such as accelerated osseous development, osteopenia, bullet-shaped middle phalanges and kyphoscoliosis. MSS is caused by truncating or frameshift mutations of the nuclear factor I/X (NFIX) gene, which encodes a ubiquitously expressed transcription factor that regulates expression of viral and cellular genes, i...

Enteroendocrine cells (EECs) are a hormone-/neurotransmitter-producing population with well-defined physiological roles. Knowledge regarding their differentiation program in the human gut, however, is scarce. Deciphering endocrine specification could identify targets which allow the manipulation of specific EEC populations and form the basis for new treatments for metabolic, inflammatory and cognitive disorders. Isoxazole-9 (ISX-9) is a small molecule, previously used in proto...

Based on the effects of Vitamin D on immune system it has been suggested that vitamin D may play a role in the pathogenesis of type I diabetes mellitus (T1D) and other organ specific autoimmune disorders. In our study, we aimed to show the effect of Vitamin D deficiency in the development of newly diagnosed T1D and other autoimmune disease that may associated with T1D such as autoimmune thyroid disease (ATD), celiac disease, Addison’s disease, vitiligo and atrophic gastri...

Although, diabetes type I patients in Portugal have complete and free access to HbA1c management (via multiple daily injections) only a few percentage has been provided an insulin pump – priority is given to children and women in fertile age trying to get pregnant. By the end of 2014, 1.150 insulin pumps had already been provided by the National Program of Insulin Pumps, but at least 3.000 patients with indication for insulin pump use were in waiting list. HbA1c pre-pump ...

N-terminal peptide of type I procollagen (P1NP) is a marker of GH (hGH) anabolic action on bone formation. We evaluated the diagnostic value of P1NP in GH deficiency (GHD) in the transition period using receiver operating characteristic (ROC) plot analysis. We compared the diagnostic value of P1NP with IGF1. 16 male patients (chronological age, 16.6–21.5) with GH replacement therapy during childhood (ten IGHD and six MPHD) were evaluated at minimum 3 months after completi...

Background/Introduction: The primary metabolic defect in glycogen storage disease type I (GSDI) results in fasting hypoglycemia and typical secondary metabolic abnormalities (e.g. hypertriglyceridemia, hyperlactatemia, hyperuricemia). The aim of this study was to broadly assess further perturbations of the metabolic network in GSDI by using untargeted plasma metabolomics.Methods: Plasma samples of 14 adult GSDI patients (11 GSDIa, 3 GSDIb. Mean age 26.4&...

Background: Unrecognised type I diabetes (TIDM) can have serious consequences which may be avoidable with early diagnosis. Many children have delayed diagnosis, however contributing factors are unclear.Aims: To evaluate the patient pathway before diagnosis and initial hospital management of children with TIDM.Methods: Over a 3-month period, parents of children newly diagnosed with TIDM across the UK completed a questionnaire. Addit...

The aim of the current study was to determine whether the porcine ovary was capable of metabolizing polybrominated diphenyl ether – BDE-47, which is the most abundant congener found in wildlife and in humans. It have been showed by us that this congener disrupt ovarian function by direct action on steroidogenesis. In the current study we analyzed the activity and expression of enzymes involved in phase I (CYP1A1 and CYP2B1/2) and phase II (SULT1A and COMT) of BDE-47 metab...

Autoimmune polyglandular syndrome type I is a very rare disorder. We present the case of a six-year-old girl admitted to our hospital in September 1999 for recurring seizures and a history of muscle cramps and carpal spasms. Neurological examination showed congenital partial palsy of cranial nerves III and VI, EEG revealed abnormal electric activity and cerebral CT was normal. Laboratory findings (hypocalcemia-5 mg/dl, hyperphosphatemia-10.3 mg/dl and low serum PTH level-4.72 ...