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https://read.qxmd.com/read/37566756/-early-detection-of-whim-symdrome-a-case-report
#1
Ana Paola Macías-Robles, Alberto Tlacuilo-Parra, Adolfo Eduardo Asencio-Gallegos, Beatriz Kazuko de la Herrán-Arita, Saúl O Lugo-Reyes
BACKGROUND: WHIM syndrome corresponds to an inborn error of innate and intrinsic immunity, characterized by: warts (Warts), Hypogammaglobulinemia, Infections and Myelocathexis, for its acronym in English. CASE REPORT: 4-year-old male, with severe neutropenia and B-cell lymphopenia from birth, without severe infections or warts; the panel genetic sequencing study of primary immunodeficiencies with the CXCR4 c.1000C>T (p.Arg334*) variant, which is associated with WHIM syndrome...
May 24, 2023: Revista Alergia Mexico: Organo Oficial de la Sociedad Mexicana de Alergia e Inmunología, A.C
https://read.qxmd.com/read/36574877/amplicon-sequencing-based-carrier-screening-for-170-monogenic-disorders-among-children-with-abnormal-lc-ms-ms-results
#2
JOURNAL ARTICLE
Xu Chen, Zhongyao Xu, Xianghua Lei, Hui Liang, Feng Wu, Ruoqing Chen, Yongchao Guo, Likuan Xiong
BACKGROUND: Next-generation sequencing (NGS) has been suggested as a second-tier diagnostic test for newborn screening, which could help identify the carrier status of hundreds monogenic disorders with wider spectrum and earlier stage. METHODS: Among the 1087 children (age from 27 minutes to 14 years old) underwent liquid chromatography-tandem mass spectrometry (LC-MS/MS), 290 individuals who had at least one abnormal value of LC-MS/MS measurements were sent for amplicon sequencing-based carrier screening (targeting 141 genes for 170 monogenic disorders)...
December 24, 2022: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://read.qxmd.com/read/34584710/case-report-antenatal-diagnostic-of-a-polymalformative-syndrome-due-to-biallelic-brca2-mutations
#3
Aude Anquetil, Suonavy Khung Savatovsky, Laurent Gavard, Anne Bazin, Fabien Guimiot, Christele Dubourg, Laurent Mandelbrot, Olivier Picone
Testing the partner of a BRCA2 carrier must always be discussed. If both members of the couple are BRCA2 carriers, they should be informed about the high risks of polymalformative syndromes.
September 2021: Clinical Case Reports
https://read.qxmd.com/read/24079066/aortic-valve-sparing-surgery-in-marfan-syndrome
#4
JOURNAL ARTICLE
Eyal Nachum, Amichay Shinfeld, Alexander Kogan, Sergey Preisman, Shany Levin, Ehud Raanani
BACKGROUND: Patients with Marfan syndrome are referred for cardiac surgery due to root aneurysm with or without aortic valve regurgitation. Because these patients are young and frequently present with normal-appearing aortic cusps, valve sparing is often recommended. However, due to the genetic nature of the disease, the durability of such surgery remains uncertain. METHODS: Between February 2004 and June 2012, 100 patients in our department suffering from aortic aneurysm with aortic valve regurgitation underwent elective aortic valve-sparing surgery...
August 2013: Israel Medical Association Journal: IMAJ
https://read.qxmd.com/read/19174036/-valproate-treatment-during-pregnancy-description-of-four-cases-with-foetal-valproate-syndrome
#5
JOURNAL ARTICLE
Anne Sabers, Katja Larsen, Susanne Blichfeldt, Lene Sahlholdt, John Oskaer Rasmussen
INTRODUCTION: Treatment with valproate is associated with an increased risk of teratogenicity compared to other antiepileptic drugs and can cause a complex of serious symptoms usually referred to as "foetal valproate symdrome" which is characterised by major and minor malformations in association with developmental delay. This paper aims to give attention to the syndrome through four case descriptions. Furthermore, possible risk factors and the use of the mutation 677C-T as a risk marker are discussed...
January 19, 2009: Ugeskrift for Laeger
https://read.qxmd.com/read/1126054/focal-dermal-hypoplasia-symdrome-in-a-male
#6
JOURNAL ARTICLE
M A Toro-Sola, M L Kistenmacher, H H Punnett, A M DiGeorge
Focal dermal hypoplasia (Goltz syndrome) is characterized by a pathognomonic abnormality of the skin in association with other congenital defects. There are only seven males among the 52 reported cases. We report the eighth case in a male and evaluate the possible genetic origin of the syndrome. A critical review of the literature provides no evidence for the previously accepted single gene mode of inheritance.
April 1975: Clinical Genetics
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