Results 21 to 30 of about 7,786,025 (339)

Mutation in methionyl-tRNA synthetase 1 causing pulmonary alveolar proteinosis

Indian Pediatrics Case Reports, 2023
Background: A chronic history of exertional dyspnea, dry cough, and fatigue, associated with reticulonodular ground-glass opacity indicates an underlying interstitial lung disease (ILD).
Manoj Madhusudan, Tejaswi Chandra, J T Srikanta   +2 more
doaj   +1 more source

Genetic ties and genetic mixups [PDF]

Journal of Medical Ethics, 2003
In a recent case in Great Britain, a couple described as “white” underwent in vitro fertilisation and gave birth to twins described as “black”. In the sense of a fair adjudication of this particular case, serving justice requires a thick description and a sensitive understanding of the relevant facts.
T H, Murray, G E, Kaebnick
openaire   +2 more sources

Determining the Genetic Difference of Some World Cotton Genotypes Using iPbs (Inter-Primer Binding Sequences) Retrotransposon Markers

Journal of Natural Fibers, 2022
This research was carried out with the aim of revealing the genetic differences of 30 cotton varieties from 14 countries using the iPBS-retrotransposon marker method.
Muhammet Ebrar Çayır, Emre Sevindik
doaj   +1 more source

Hereditary pulmonary arterial hypertension burden in pediatrics: A single referral center experience

Frontiers in Pediatrics, 2023
IntroductionHereditary pulmonary arterial hypertension (HPAH) is a rare yet serious type of pulmonary arterial hypertension (PAH). The burden in the pediatric population remains high yet underreported.
Maki Ishizuka, Wenxin Zou, Wenxin Zou, Elise Whalen, Erin Ely, Ryan D. Coleman, Dolores H. Lopez-Terrada, Dolores H. Lopez-Terrada, Daniel J. Penny, Yuxin Fan, Yuxin Fan, Nidhy P. Varghese   +11 more
doaj   +1 more source

The role of the genetic counsellor: a systematic review of research evidence [PDF]

, 2014
In Europe, genetic counsellors are employed in specialist genetic centres or other specialist units. According to the European Board of Medical Genetics, the genetic counsellor must fulfil a range of roles, including provision of information and ...
B Meiser, C Bennett, C Cordier, C James, Caroline Benjamin, Charlotta Ingvoldstad, Christophe Cordier, D Roter, E Pergament, E Smets, H Skirton, Heather Skirton, J Hartley, J Hodgson, J Ingles, JGR Kromberg, JGR Kromberg, KA Hines, KP Powell, L Ellington, LM Kmet, Nicolas Taris, P McCarthy-Veach, R Resta, RG Resta, SJ Lepore, V Braun, V Hannig   +27 more
core   +1 more source

Clinical and genetic analysis of Vietnamese patients diagnosed with early‐onset Parkinson's disease

Brain and Behavior, 2023
Background Genetic factors play a crucial role in the pathogenesis of Parkinson's disease (PD). However, no comprehensive study has described genetic alterations in Vietnamese patients diagnosed with PD.
Minh Duc Do, Tai Ngoc Tran, An Bac Luong, Linh Hoang Gia Le, Tuan Van Le, Khuong Thai Le, Niem Thanh Van Vo, Thuc‐Nhi Nguyen Le, Hoang Anh Vu, Thao Phuong Mai   +9 more
doaj   +1 more source

A Quality Improvement Initiative to Standardize Pneumocystis jirovecii Pneumonia Prophylaxis in Pediatric Patients With Solid Tumors

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Pediatric patients with extracranial solid tumors (ST) receiving chemotherapy are at an increased risk for Pneumocystis jirovecii pneumonia (PJP). However, evidence guiding prophylaxis practices in this population is limited. A PJP‐related fatality at our institution highlighted inconsistent prescribing approaches and concerns about
Kriti Kumar, Denise M. Connolly, Ellen Kellington, Elyse Zelunka, Karla Kerrigan, Furqan Shaikh, Paul C. Nathan, Meredith S. Irwin, Sarah Cohen‐Gogo   +8 more
wiley   +1 more source

Association Between Obsessive Compulsive Disorder And Tumor Necrosis Factor-Α Gene –308 (G>A) And –850 (C>T) Polymorphisms In Turkish Children

Balkan Journal of Medical Genetics, 2012
Obsessive compulsive disorder (OCD) is a neurobiological disease characterized with obsessions and compulsions. Obsessive compulsive disorder occurs with an autoimmune mechanism after Group A β hemolytic streptococcus (GABHS) infection.
Lüleyap H.U., Onatoğlu D., Tahiroğlu A.Y., Alptekin D., Yılmaz M.B., Çetiner S., Pazarbaşı A., Ünal İ., Avcı A.   +8 more
doaj   +1 more source

Sickle Cell Disease Is an Inherent Risk for Asthma in a Sibling Comparison Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Sickle cell disease (SCD) and asthma share a complex relationship. Although estimates vary, asthma prevalence in children with SCD is believed to be comparable to or higher than the general population. Determining whether SCD confers an increased risk for asthma remains challenging due to overlapping symptoms and the ...
Suhei C. Zuleta De Bernardis, Okeleji Olayinka, Mariam Z. Quraishi, Lakshmi V. Srivaths, Deborah L. Brown, Neethu M. Menon, Ricardo A. Mosquera, Ashwin P. Patel, James M. Stark, Aravind Yadav   +9 more
wiley   +1 more source

Implementasi Metode STIFIn dalam Meningkatkan Kemampuan Menghafal Al-Qur’an di Rumah Qur’an STIFIn Paiton Probolinggo

Jurnal Pendidikan Agama Islam (Journal of Islamic Education Studies), 2017
Bahasa Indonesia: Al-Qur’an sebagai salah satu pedoman yang mewartakan prinsip dan doktrin ajaran Islam mempunyai apa yang disebut dengan kepastian teks (qat’i al-wurud).
Akmal Mundiri, Irma Zahra
doaj   +1 more source