Results 51 to 60 of about 941,077 (306)

Progressive familial intrahepatic cholestasis type 4: a case report

Journal of Medical Case Reports
Background Progressive familial intrahepatic cholestasis is an autosomal recessive genetic disorder that manifests primarily with jaundice and pruritus and can progresses from persistent cholestasis to cirrhosis and late childhood liver failure ...
Mohamed Abdelmalak Abokandil, Saber Waheeb, Wessam Zaghloul, Manal Abdelgawad, Mona Abdelhady, Mohamed Mansy, Mostafa Kotb   +6 more
doaj   +1 more source

Understanding the current status of patients with pulmonary hypertension during COVID-19 outbreak: a small-scale national survey from China

Pulmonary Circulation, 2020
Pulmonary hypertension is a chronic disease developing progressively with high mortality. Pulmonary hypertension patients need persistent medical care; however, limited reports focused on them when there was an outbreak of coronavirus disease 2019 in ...
Hongmei Zhou, Gangcheng Zhang, Xiaoxian Deng, Bowen Jin, Qiu Qiu, Menghuan Yan, Xi Wang, Xuan Zheng   +7 more
doaj   +1 more source

Cell surface CD11c as a neutrophil aging marker molecule

FEBS Open Bio, EarlyView.
Cell surface CD11chi neutrophils were more aged and had better phagocytic function than CD11c−/lo neutrophils. Transcriptomic analysis of CD11chi neutrophils and CD11c−/lo neutrophils in pediatric population showed that the most difference was seen in infants.
Sophia Koutsogiannaki, Fahd Alhamdan, Erik Malm, Marie Bermudez, Samuel Y. Kim, Koichi Yuki   +5 more
wiley   +1 more source

Consanguinity and the risk of congenital heart disease [PDF]

, 2012
Consanguineous unions have been associated with an increased susceptibility to various forms of inherited disease. Although consanguinity is known to contribute to recessive diseases, the potential role of consanguinity in certain common birth defects is
Hudgins, L., Shieh, J.T.C., Bittles, A.H.   +2 more
core  

Passive immunization during pregnancy for congenital cytomegalovirus infection

, 2005
BACKGROUND: Currently, there is no effective intervention for a primary cytomegalovirus (CMV) infection during pregnancy. METHODS: We studied pregnant women with a primary CMV infection.
Giuseppe Gentile, Congenital Cytomegalovirus Collaborating Group, Al M. Best, Giovanni Nigro, Stuart P. Adler, Renato La Torre   +5 more
core   +1 more source

The mechanism of speech processing in congenital amusia: Evidence from Mandarin speakers [PDF]

, 2012
Congenital amusia is a neuro-developmental disorder of pitch perception that causes severe problems with music processing but only subtle difficulties in speech processing.
WF, Thompson, Yi Xu (131145), Jiang, C., Yang Yufang, Fang Liu, Yufang Yang, Stewart, L; id_orcid, Yi Xu, Jiang, C, Liu, Fang, Xu Yi, Liu, F., Fang Liu (13271), Stewart, Lauren, Lauren Stewart, Cunmei Jiang (184659), Xu, Y, Jiang Cunmei, Xu, Y., Cunmei Jiang, Yang, Y, William Forde Thompson (184662), Jiang, Cunmei, Lauren Stewart (84113), Thompson William Forde, Stewart Lauren, Yufang Yang (142883), Xu, Yi, William Forde Thompson, Liu Fang, Yang, Y., Liu, F, Stewart, L, Yang, Yufang, Thompson, W. F., Thompson, WF, Thompson, William Forde   +36 more
core   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Antiarrhythmic therapy for narrow QRS supraventricular tachyarrhythmias in newborns and infants in the first year of life: Potent tools to be handled with care

Indian Pacing and Electrophysiology Journal
Supraventricular tachyarrhythmias pose a significant challenge in neonates and infants, particularly within the first year of life, where prompt and effective management is crucial.
Giovanni Domenico Ciriello, Davide Sorice, Antonio Orlando, Giovanni Papaccioli, Diego Colonna, Anna Correra, Emanuele Romeo, Raffaella Esposito, Marina De Marco, Veronica Diana, Mario Giordano, Ludovica Spinelli Barrile, Maria Giovanna Russo, Berardo Sarubbi   +13 more
doaj   +1 more source

Congenital scoliosis [PDF]

European Spine Journal, 2003
Congenital scoliosis is the most frequent congenital deformity of the spine. Congenital curvatures are due to anomalous development of the vertebrae (failure of formation and/or segmentation). Congenital scoliosis is believed to be related to an insult to the fetus during spine embryological development, and associated malformations (heart, spinal cord,
V, Arlet, Th, Odent, M, Aebi
openaire   +2 more sources

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source