Results 181 to 190 of about 122,147 (327)

Autosomal Dominant Erythrocytosis Caused by Non‐Renal Erythropoietin (EPO) Due to EPO c.‐136 G>A Germline Mutation

American Journal of Hematology, EarlyView.
A novel erythropoietin (EPO) promoter mutation (c.‐136 G>A) causes autosomal dominant erythrocytosis via non‐renal expression of EPO. ABSTRACT We previously reported a five‐generation kindred with autosomal dominant erythrocytosis associated with a novel germline promoter variant in the erythropoietin (EPO) gene (EPO c.‐136 G>A).
Lucie Lanikova, Dusan Hrckulak, Veronika Zimolova, Felipe R. Lorenzo, Jihyun Song, Katerina Vecerkova, Olga Babosova, Linda Berkova, Vladimir Korinek, Steve Elliott, Josef T. Prchal   +10 more
wiley   +1 more source

Global incidence and risk factors of pregnancy-related stroke: a systematic review and meta-analysis of over 270 million women. [PDF]

BMC Pregnancy Childbirth
Nourollahpour Shiadeh M, Pakdaman K, Esmaeilnia Shirvani A, Hashemi Z, Ebrahimi P.   +4 more
europepmc   +1 more source

Disorders of Sleep and Wake in Patients After Subarachnoid Hemorrhage [PDF]

, 2005
Wouter J. Schuiling, Gabriël J.E. Rinkel, Rob Walchenbach, Al W. de Weerd   +3 more
openalex   +1 more source

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson, Stephanie Hyunh, Bojana Rakic, Cornelius Boerkoel   +3 more
wiley   +1 more source

Psychiatric disorders after traumatic intracranial hemorrhage: the HEAD Helsinki study [PDF]

Janne Kinnunen, Jukka Putaala, Ivan Marinković, Jarno Satopää, Mika Niemelä, Risto Vataja   +5 more
openalex   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Regional perfusion parameters as potential indicators of parenchymal hematoma risk following reperfusion therapy for acute ischemic stroke in the extended time window. [PDF]

Ther Adv Neurol Disord
Liu X, Hong L, Zhao G, He Z, Wang X, Zhu J, Li S, Zhang A, Cao N, Ling Y, Chen X, Guo Y, Fang Q, Wang Z, Dong Q, Cheng X.   +15 more
europepmc   +1 more source

Renal vessel–assisted anastomosis improves the abdominal heart transplant model in rats without bilateral lower limb ischemia

Animal Models and Experimental Medicine, EarlyView.
A modified heterotopic heart transplantation (HTx) in rats was reported to improve the surgical success rate, in which the donor's vessels, the brachiocephalic trunk (BT) and the pulmonary artery (PA), were sutured to the recipient's left renal artery (RA) and left renal vein (RV).
Meng Wang, Wuxia Wang, Xunfeng Zou
wiley   +1 more source

Hemiballismus as the Sole Manifestation of Acute Thalamic Hemorrhagic Stroke: A Case Report. [PDF]

Cureus
Habte YM, Habte BM, Abdu EM, Temam AA, Mohammed AA.   +4 more
europepmc   +1 more source

Personalized nursing interventions based on risk factors for post-traumatic stress disorder following intracerebral hemorrhage: an analysis of effectiveness [PDF]

Chen Bu, Q T Zhang, Liang Xu
openalex   +1 more source