Results 41 to 50 of about 5,596,228 (313)
Pediatric Blood &Cancer, EarlyView.ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen +23 more
wiley +1 more source
Orphanet Journal of Rare DiseasesPast research has indicated that individuals with Ehlers-Danlos Syndromes (EDS) and Generalized Hypermobililty Spectrum Disorder (G-HSD) report psychological and psychiatric symptoms, particularly anxiety disorders and depressive symptoms, at much ...
P. Maxwell Slepian +11 more
doaj +1 more source
The metabolic syndrome in type 2 diabetic subjects in Gorgan, Iran [PDF]
, 2011 Objective: To assess the prevalence of the metabolic syndrome in subjects diagnosed with Type 2 diabetes in Gorgan, Iran.Methods: Data were collected from 200 subjects with Type 2 diabetes mellitus and they were categorized aswith or without the ...
Marjani, A., Mojerloo, M.
core
The effect of sodium valproate in Cushing's disease, Nelson's syndrome and Addison's disease [PDF]
, 1988 We investigated the effect of sodium valproate on plasma ACTH and serum cortisol concentrations in different pathological states of ACTH hypersecretion.
Allolio, B. +4 more
core +1 more source
Delleman Oorthuys syndrome: ′Oculocerebrocutaneous syndrome′
Indian Journal of Ophthalmology, 2009 Delleman Oorthuys syndrome (oculocerebrocutaneous syndrome) is a rare, congenital sporadic disorder affecting the skin and central nervous system. We present the case of a one-month-old male who presented with an orbital cyst in the left eye since birth along with other manifestations of this syndrome. The manifestations of this syndrome resemble other
Arora, Vipul +2 more
openaire +2 more sources
Pediatric Blood &Cancer, EarlyView.ABSTRACT Arteriovenous malformations (AVMs) are rare, high‐flow, vascular anomalies that can occur either sporadically or as part of a genetic syndrome. AVMs can progress with serious morbidity and even mortality if left unchecked. Sirolimus is an mTOR inhibitor that is effective in low‐flow vascular malformations; however, its role in AVMs is unclear.
Will Swansson +3 more
wiley +1 more source
A Novel DNA Repair Disorder With Thrombocytopenia, Nephrosis, and Features Overlapping Cockayne Syndrome [PDF]
, 2009 We report on four siblings with Cockayne-like syndrome with thrombocytopenia and nephrotic syndrome. The parents were healthy and consanguineous, consistent with an autosomal recessive mode of disease inheritance.
Cockayne +11 more
core +3 more sources
Pediatric Blood &Cancer, EarlyView.ABSTRACT Objective To evaluate the diagnostic yield and utility of universal paired tumor–normal multigene panel sequencing in newly diagnosed pediatric solid and central nervous system (CNS) tumor patients and to compare the detection of germline pathogenic/likely pathogenic variants (PV/LPVs) against established clinical referral criteria for cancer ...
Natalie Waligorski +9 more
wiley +1 more source
Brain Sciences, 2017 (1) Background: Literature suggests that high levels of dopamine are associated with creative thoughts. Tourette Syndrome (TS) patients have high dopamine levels, while Parkinson’s Disease (PD) subjects have low dopamine levels.
Carlotta Zanaboni Dina +3 more
doaj +1 more source
Genetic analysis for two italian siblings with usher syndrome and schizophrenia. [PDF]
, 2012 Usher syndrome is a group of autosomal recessive genetic disorders characterized by deafness, retinitis pigmentosa, and sometimes vestibular areflexia.
Article Id +5 more
core +3 more sources