Results 61 to 70 of about 5,596,228 (313)

A case report of cornelia de lange syndrome in Northern Iran; a clinical and diagnostic study [PDF]

, 2016
As a rare multisystem congenital anomaly disorder, Cornelia de Lange syndrome (CdLS) is featured by delayed growth and development, distinct facial dimorphism, limb malformations and multiple organ defects.
Alaee, E., Bazrafshan, B., Hosseininejad, S.-M.   +2 more
core   +1 more source

Antiphospholipid Syndrome [PDF]

Translational Research, 2008
Antiphospholipid syndrome is one of the more common acquired causes of hypercoagulability. Its major presentations are thrombotic (arterial, venous, or microvascular) and pregnancy morbidity (miscarriages, late intrauterine fetal demise, and severe pre-eclampsia).
openaire   +2 more sources

The Fate (Outcome) of Clinically Apparent Single Lesion and Oligofocal Nephroblastomatosis Treated According to SIOP/GPOH Protocols for Wilms Tumor

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background The management of clinically apparent single lesions or oligofocal nephroblastomatosis, a facultative precursor of nephroblastoma, remains debated. Methods We retrospectively analyzed 37 patients with clinically apparent single or oligofocal nephroblastomatosis (two to three lesions per kidney) among 2347 patients registered between
Nils Welter, Jens‐Peter Schenk, Jenny Wegert, Manfred Gessler, Leo Kager, Stefan Wagenpfeil, Marina Müller, Jean‐Michel Wolff, Joerg Fuchs, Steven W. Warmann, Clemens‐Magnus Meier, Jochen Hubertus, Christian Rübe, Christian Vokuhl, Patrick Melchior, Lena Tschirner, Norbert Graf, Rhoikos Furtwängler   +17 more
wiley   +1 more source

The Initiation of Swallowing Can Indicate the Prognosis of Disorders of Consciousness: A Self-Controlled Study

Frontiers in Neurology, 2019
Objective: To detect the initiation of swallowing in patients with disorders of consciousness (DOC) as well as the relationship between the initiation of swallowing and the prognosis of DOC patients.Methods: Nineteen DOC patients were included in this ...
Jianan Wang, Jing Wang, Xiaohua Hu, Lingqi Xu, Jinna Tian, Jiayin Li, Danruo Fang, Wangshan Huang, Yuxiao Sun, Minhui He, Steven Laureys, Haibo Di   +11 more
doaj   +1 more source

HUBUNGAN FUNGSITIROID DENGAN GANGGUAN PENDENGARAN PADA ANAK SINDROM DOWN [PDF]

, 2015
Background: Children with Down syndrome have increased risk of health problems. Two common health problems in children with Down syndrome are thyroid dysfunction and hearing disorder.
Margono, Irwan Arif, Purwanti, Asri, Widodo, Pujo   +2 more
core   +1 more source

Chilaiditi Syndrome

The Journal of Pediatrics, 2016
Abstract Not ...
Evrengül, Havva, Yüksel, Selçuk, Orpak, Seda, Özhan, Bayram, Agladıoglu, Kadir   +4 more
openaire   +5 more sources

Inpatient Food Insecurity and Pediatric Hematology Oncology Hospitalization Outcomes

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Children with cancer and blood disorders are at risk for food insecurity (FI). We aimed to describe the association of inpatient food insecurity (IFI) and hospitalization outcomes among patients admitted to the pediatric hematology oncology service. Of 325 caregivers screened for IFI, 60 (18.6%) screened positive.
Joanna M. Robles, Greg Russell, Leila H. DeWitt, Kimberly Montez, Callie L. Brown   +4 more
wiley   +1 more source

Variegated overexpression of chromosome 21 genes reveals molecular and immune subtypes of Down syndrome

Nature Communications
Individuals with Down syndrome, the genetic condition caused by trisomy 21, exhibit strong inter-individual variability in terms of developmental phenotypes and diagnosis of co-occurring conditions.
Micah G. Donovan, Neetha P. Eduthan, Keith P. Smith, Eleanor C. Britton, Hannah R. Lyford, Paula Araya, Ross E. Granrath, Katherine A. Waugh, Belinda Enriquez Estrada, Angela L. Rachubinski, Kelly D. Sullivan, Matthew D. Galbraith, Joaquin M. Espinosa   +12 more
doaj   +1 more source

A new pathogenic homozygous variant in deoxyguanosine kinase gene cause vital progressive liver failure in a neonate: case report

Journal of Biochemical and Clinical Genetics, 2020
Background: Mitochondrial DNA-depletion syndromes (MDDS) usually present with a wide spectrum of clinical manifestations, such as weakness, hypotonia, developmental delay, and/or seizures, and are categorized as myopathic, encephalomyopathic ...
Maher Mohammed Al-Hatlani, Sharifah Ahmed Othman   +1 more
doaj   +1 more source

Clinical Attributes and Electroencephalogram Analysis of Patients With Varying Alpers’ Syndrome Genotypes

Frontiers in Pharmacology, 2021
Alpers’ syndrome is an early inceptive neurodegenerative disorder with a poor prognosis, characterized by developmental regression, intractable epilepsy, and hepatic dysfunction.
Hua Li, Wei Wang, Wei Wang, Xiaodi Han, Yujia Zhang, Lifang Dai, Manting Xu, Jie Deng, Changhong Ding, Xiaohui Wang, Chunhong Chen, Xiaofeng Yang, Fang Fang   +12 more
doaj   +1 more source