Results 81 to 90 of about 237,948 (309)

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Neonatologie/Pädiatrie – Leitlinie Parenterale Ernährung, Kapitel 13 [PDF]

, 2009
There are special challenges in implementing parenteral nutrition (PN) in paediatric patients, which arises from the wide range of patients, ranging from extremely premature infants up to teenagers weighing up to and over 100 kg, and their varying ...
Bauer, Karl, Böhles, Hansjosef, Fusch, Christoph, Jochum, Frank, Koletzko, Berthold, Krawinkel, Michael, Krohn, Kathrin, Mühlebach, Stefan   +7 more
core  

NICU Infants & SNHL: Experience of a western Sicily tertiary care centre [PDF]

, 2019
Introduction: The variability of symptoms and signs caused by central nervous system (CNS) lesions make multiple sclerosis difficult to recognize,Introduction: This study adds the evaluation of the independent etiologic factors that may play a role in ...
Abita P, Alberti G, Caminiti F, Gargano R, Gazia F, Longo P, Loteta S   +6 more
core   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Pan-cancer analyses reveal the molecular and clinical characteristics of TET family members and suggests that TET3 maybe a potential therapeutic target

Frontiers in Pharmacology
The Ten-Eleven Translocation (TET) family genes are implicated in a wide array of biological functions across various human cancers. Nonetheless, there is a scarcity of studies that comprehensively analyze the correlation between TET family members and ...
Chunyan Zhang, Chunyan Zhang, Chunyan Zhang, Jie Zheng, Jin Liu, Yanxia Li, Yanxia Li, Guoqiang Xing, Shupeng Zhang, Hekai Chen, Jian Wang, Zhijiang Shao, Zhijiang Shao, Yongyuan Li, Yongyuan Li, Zhongmin Jiang, Yingzi Pan, Xiaozhi Liu, Xiaozhi Liu, Ping Xu, Ping Xu, Wenhan Wu, Wenhan Wu, Wenhan Wu, Wenhan Wu   +24 more
doaj   +1 more source

Current status of laboratory and imaging diagnosis of neonatal necrotizing enterocolitis [PDF]

, 2018
Necrotizing enterocolitis continues to be a devastating disease process for very low birth weight infants in Neonatal Intensive Care Units. The aetiology and pathogenesis of necrotizing enterocolitis are not definitively understood.
Corsello G, D'Angelo G, Falsaperla R, Gitto E, Impellizzeri P, Marseglia L, Montalto AS, Romeo C, Russo T, Salamone I   +9 more
core   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

An approach that helps break down gender stereotypes: Research and Commentary [PDF]

, 2014
Globally, the use of the skin to skin (STS) contact, also known as kangaroo care, has become widely used within neonatal units. Evidence suggests that STS has a number of significant benefits for both premature infants and their parents. Benefits include
Currell, Karen
core   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Relationship between Oxytocin and Growth in Premature Infants [PDF]

, 2015
Infants born extremely premature (less than 29 weeks gestation) are at high-risk for inadequate growth because of the effects of acute illness. Researchers have demonstrated that these infants are often discharged from the neonatal intensive care unit ...
Toth, Stephanie
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