Results 51 to 60 of about 1,069,421 (301)

Novel Gene Mutation Variant in Hypomyelinating Leukodystrophy-8: A Case Report

Medical Journal of Dr. D.Y. Patil Vidyapeeth
The incidence of hypomyelinating leukodystrophies is approximately 1 in every 250,000–500,000 individuals in the population. Hypomyelinating leukodystrophy-8 (HLD-8) is characterized by classical clinical features, including modest intellectual deficits ...
Shalesh Rohatgi, Pranit Khandait, Satish Nirhale, Prajwal Rao, Pravin Naphade   +4 more
doaj   +1 more source

Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2

Biomedical Papers, 2017
Introduction: Episodic ataxias (EAs) are rare dominantly inherited neurological disorders characterized by recurrent episodes of ataxia lasting minutes to hours.
Andrea Petrovicova, Miroslav Brozman, Egon Kurca, Tibor Gobo, Jana Dluha, Klaudia Kalmarova, Vladimir Nosal, Martina Hikkelova, Adriana Krajciova, Tatiana Burjanivova, Stefan Sivak   +10 more
doaj   +1 more source

Clinical Insights Into Hypercalcemia of Malignancy in Childhood

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Hypercalcemia of malignancy (HCM) is a rare but life‐threatening metabolic emergency in children that occurs in less than 1% of pediatric cancer cases, with a reported incidence ranging from 0.4% to 1.0% across different studies. While it is observed in 10%–20% of adult malignancies, pediatric HCM remains relatively uncommon.
Hüseyin Anıl Korkmaz
wiley   +1 more source

A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud. [PDF]

, 2020
PurposePreaxial polydactyly (PPD) is a common congenital hand malformation classified into four subtypes (PPD I-IV). Variants in the zone of polarizing activity regulatory sequence (ZRS) within intron 5 of the LMBR1 gene are linked to most PPD types ...
Ahituv, Nadav, Chen, Tao, Gao, Bo, Li, Quan-Zhen, Li, Yongyong, Lian, Chengjie, Liao, Zhiheng, Malik, Sajid, Mohan, Chandra, Sharma, Swarkar, Su, Deying, Su, Peiqiang, Wang, Tingting, Xing, Chao, Xu, Caixia, Yan, Mei, Yang, Xiaoming, Zhong, Dongmei, Zhou, Hang, Zhou, Taifeng   +19 more
core  

Screening of MC4R, LEP, LEPR, POMC, SH2B1, and SIM1 genes in Turkish children with severe early-onset obesity

Medicine Science, 2021
The aim of this study was to determine the prevalence of leptin (LEP), leptin receptors (LEPR), melanocortin-4-receptor (MC4R), proopiomelanocortin (POMC), single-minded 1 (SIM1), and SH2B1 gene variations in Turkish children and adolescents, and to ...
Ayberk Turkyilmaz, Oguzhan Yarali, Erdal Kurnaz, Atilla Cayir   +3 more
doaj   +1 more source

Survival Outcomes and Complications Among Canadian Children With Retinoblastoma: A Population‐Based Report From CYP‐C

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Retinoblastoma (RB) is the most common pediatric ocular cancer, yet population‐based data on survival and risk factors remain limited. This study aimed to describe survival in a large national RB cohort and identify predictors of death and complications.
Samuel Sassine, Ofélie Trudeau‐Ferrin, Caroline Laverdière, Patrick Hamel, Rosanne Superstein, Bénédicte Koukoui, Carole Provost, Paul C. Nathan, Vijay Ramaswamy, Furqan Shaikh, Brenda Gallie, Ashwin Mallipatna, Stephanie Kletke, Helen Dimaras, Hallie Coltin   +14 more
wiley   +1 more source

Efficient Learning for Undirected Topic Models [PDF]

, 2015
Replicated Softmax model, a well-known undirected topic model, is powerful in extracting semantic representations of documents. Traditional learning strategies such as Contrastive Divergence are very inefficient.
Gu, Jiatao, Li, Victor O. K.
core   +2 more sources

X-linked Thrombocytopenia with Normal Wiskott-Aldrich Syndrome Protein Expression in Lymphocytes and a Novel Wiskott-Aldrich Syndrome Protein Gene Variant: A Case Report and Brief Review of the Literature

Journal of Pediatrics: Clinical Practice
We present a case of X-linked thrombocytopenia (XLT) with a novel WAS gene variant expressing a normal amount of Wiskott-Aldrich syndrome protein (WASp) in lymphocytes. XLT usually decreases WASp expression not only in platelets, but also in lymphocytes.
Serena Hamanaka, MD, Toru Uchiyama, MD, PhD, Tadashi Kaname, MD, PhD, Motohiro Matsui, MD, Hiroshi Yoshihashi, MD, Atsushi Makimoto, MD, PhD, Yuki Yuza, MD, Akira Ishiguro, MD   +7 more
doaj   +1 more source

Personalized Selumetinib Dosing in Pediatric Neurofibromatosis Type 1: Insights From a Pilot Therapeutic Drug Monitoring Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate selumetinib exposure using therapeutic drug monitoring (TDM) in pediatric patients with neurofibromatosis type 1 (NF1) and plexiform neurofibromas (PN), assess interpatient pharmacokinetic variability, and explore the relationship between drug exposure, clinical response, and adverse effects.
Janka Kovács, Zoltán Köllő, Balázs Gellért Karvaly, Mahmoud Obeidat, Rita Nagy, Péter Hegyi, Brigitta Teutsch, Eszter Tuboly, Miklós Garami   +8 more
wiley   +1 more source

Stochastic Optimization of PCA with Capped MSG [PDF]

, 2013
We study PCA as a stochastic optimization problem and propose a novel stochastic approximation algorithm which we refer to as "Matrix Stochastic Gradient" (MSG), as well as a practical variant, Capped MSG.
Arora, Raman, Cotter, Andrew, Srebro, Nathan   +2 more
core