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https://www.readbyqxmd.com/read/29666677/should-premarital-screening-for-blood-disorders-be-an-obligatory-measure-in-oman
#1
Amal A Al-Balushi, Budoor Al-Hinai
Due to the high rate of consanguineous marriages in Oman, there is a correspondingly high prevalence of hereditary blood disorders, particularly sickle cell disease and β-thalassaemia. This article proposes the possibility of implementing mandatory premarital carrier screening for blood disorders in Oman, while giving due consideration to potential social and cultural obstacles. Although the implementation of such legislation would require collaboration between different sectors and may negatively affect the autonomy of certain individuals, mandatory premarital screening would help to alleviate the burden of hereditary blood disorders on the national healthcare system, as well as reduce avoidable suffering among carriers and their families...
February 2018: Sultan Qaboos University Medical Journal
https://www.readbyqxmd.com/read/29664734/potential-causes-of-asthma-in-the-united-arab-emirates-drawing-insights-from-the-arabian-gulf
#2
REVIEW
Sarah Dalibalta, Fatin Samara, Haya Qadri, Hibatallah Adouchana
There is considerable concern on the rise in the incidence of asthma worldwide with statistics in the United Arab Emirates (UAE) indicating that at least 13% of schoolchildren, particularly of Emirati descent, suffer from asthma. With its high rates of hospital admissions, negative socioeconomic impact and significant morbidity, this is a disease that requires optimal guidelines for control and awareness. In this article, we review the current knowledge of asthma in the UAE and draw on studies, especially from the surrounding region, to identify its contributing factors within this population...
April 17, 2018: Reviews on Environmental Health
https://www.readbyqxmd.com/read/29664449/neurometabolic-disorders-and-congenital-malformations-of-the-central-nervous-system
#3
Ahmed Y BoAli, Majid Alfadhel, Brahim Tabarki
Both malformations of the central nervous system and neurometabolic disorders are common, mainly in highly consanguineous populations. Both metabolic pathways and developmental pathways are closely related and interact with each other. Neurometabolic disorders can lead to disturbances in brain development through multiple mechanisms that include deficits in energy metabolism, critical nutrient deficiency, accumulation of neurotoxic substrates, abnormality in cell membrane constituents, and interference in cell-to-cell signaling pathways...
April 2018: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/29663667/a-novel-splice-site-variant-in-itpr1-gene-underlying-recessive-gillespie-syndrome
#4
Leda Paganini, Chiara Pesenti, Donatella Milani, Laura Fontana, Silvia Motta, Silvia Maria Sirchia, Giulietta Scuvera, Paola Marchisio, Susanna Esposito, Claudia Maria Cinnante, Silvia Maria Tabano, Monica Rosa Miozzo
Gillespie syndrome (GLSP) is a rare congenital disorder characterized by partial aniridia, hypotonia, progressive cerebellar hypoplasia, nonprogressive ataxia, and intellectual disability. All causative variants to date affect the central or the 3'-terminal domains of ITPR1 gene and exhibit autosomal recessive or dominant inheritance pattern. We investigated by exome sequencing the molecular cause of GLSP in a family composed by consanguineous healthy parents, two affected siblings and one healthy son. We found the novel splice site variant c...
April 16, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29663639/a-novel-ecel1-mutation-expands-the-phenotype-of-distal-arthrogryposis-multiplex-congenita-type-5d-to-include-pretibial-vertical-skin-creases
#5
Eva-Lena Stattin, Josefin Johansson, Sanna Gudmundsson, Adam Ameur, Staffan Lundberg, Marie-Louise Bondeson, Maria Wilbe
Arthrogryposis multiplex congenita (AMC) is a heterogeneous disorder characterized by multiple joint contractures often in association with other congenital abnormalities. Pretibial linear vertical creases are a rare finding associated with arthrogryposis, and the etiology of the specific condition is unknown. We aimed to genetically and clinically characterize a boy from a consanguineous family, presenting with AMC and pretibial vertical linear creases on the shins. Whole exome sequencing and variant analysis revealed homozygous novel missense variants of ECEL1 (c...
April 16, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29661558/genetic-assessment-and-folate-receptor-autoantibodies-in-infantile-onset-cerebral-folate-deficiency-cfd-syndrome
#6
V Th Ramaekers, K Segers, J M Sequeira, M Koenig, L Van Maldergem, V Bours, U Kornak, E V Quadros
INTRODUCTION: Cerebral folate deficiency (CFD) syndromes are defined as neuro-psychiatric conditions with low CSF folate and attributed to different causes such as autoantibodies against the folate receptor-alpha (FR) protein that can block folate transport across the choroid plexus, FOLR1 gene mutations or mitochondrial disorders. High-dose folinic acid treatment restores many neurologic deficits. STUDY AIMS AND METHODS: Among 36 patients from 33 families the infantile-onset CFD syndrome was diagnosed based on typical clinical features and low CSF folate...
March 3, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29661258/liver-metabolism-in-adult-male-mice-offspring-consequences-of-a-maternal-paternal-or-both-maternal-and-paternal-high-fructose-diet
#7
P V Carapeto, F Ornellas, C A Mandarim-de-Lacerda, M B Aguila
The study aimed to evaluate the consequences of the consumption of a high-fructose diet (HFR; fructose was responsible for 45% of the energy from carbohydrates) by the mother, the father, or both on C57BL/6 adult male offspring. Non-consanguineous parents received the diet (HFR or control, C) from 8 weeks before mating until weaning (n=10 fathers and n=10 mothers on each diet). After weaning, only the C diet was offered to offspring. The groups were formed by one male randomly taken from each litter. The offspring groups were identified according to the mother's diet (the first letter), then the father's diet (the second letter), that is, C/C, C/HFR, HFR/C, HFR/HFR (n=10 per group)...
April 17, 2018: Journal of Developmental Origins of Health and Disease
https://www.readbyqxmd.com/read/29661163/characteristics-of-keratoconic-patients-at-two-main-eye-centres-in-palestine-a-cross-sectional-study
#8
Yousef Shanti, Ithar Beshtawi, Sa'ed H Zyoud, Ahlam Abu-Samra, Areen Abu-Qamar, Reem Barakat, Reham Shehada
BACKGROUND: Keratoconus (KC) is a multifactorial, degenerative ectatic condition of the cornea. It usually manifests during late adolescence or the early twenties. A painless disease, KC may end with severe visual loss. The prevalence of KC in middle-eastern countries is much higher than in other regions of the world. This may be due to genetic and environmental risk factors and consanguinity. The goal of this study is to explore the demographic profile of Palestinian keratoconic patients...
April 16, 2018: BMC Ophthalmology
https://www.readbyqxmd.com/read/29659908/prototheca-zopfii-colitis-in-inherited-card9-deficiency
#9
Sinan Sari, Buket Dalgic, Atis Muehlenbachs, Marlene DeLeon-Carnes, Cynthia S Goldsmith, Ozgur Ekinci, Dhanpat Jain, M Kelly Keating, Silvia Vilarinho
Human protothecosis is a rare microalgae infection, and its dissemination typically occurs in immunocompromised individuals, but no specific immune defect has been reported. Here, we describe an 8-year-old daughter of a consanguineous union with abdominal pain and bloody diarrhea for 3 months who was found to have pancolitis with numerous microalgae identified as Prototheca zopfii. In the absence of a known immunodeficiency, exome sequencing was performed and uncovered a novel recessive frameshift mutation in CARD9 (p...
April 6, 2018: Journal of Infectious Diseases
https://www.readbyqxmd.com/read/29659834/an-open-source-integrated-pedigree-data-management-and-visualization-tool-for-genetic-epidemiology
#10
Thilina Ranaweera, Enes Makalic, John L Hopper, Adrian Bickerstaffe
With advances in genetic epidemiology, increasingly large amounts of pedigree-related information are being collected by family studies, including twin studies. To date, biomedical data management systems that cater for family data have usually done so as part of their standard (non-family-centric) data model. Consequently, data managers with computing expertise are needed to extract family datasets and perform family-centric operations. We present a robust approach to handling large family datasets. Our approach is implemented as a new module which extends the capabilities of The Ark, an open-source web-based biomedical data management tool...
April 5, 2018: International Journal of Epidemiology
https://www.readbyqxmd.com/read/29659827/a-mei1-homozygous-missense-mutation-associated-with-meiotic-arrest-in-a-consanguineous-family
#11
M Ben Khelifa, F Ghieh, R Boudjenah, C Hue, D Fauvert, R Dard, H J Garchon, F Vialard
Although meiotic arrest in males is observed in about 25% of azoospermic patients, pure homogeneous arrest in all seminiferous tubules is less frequent, and may be due to mutation of a single gene. However, given the large number of genes involved in meiosis, this gives rises to extensive genetic heterogeneity. Only two genetic abnormalities have been reported on a regular basis: the X-linked exonic TEX11 deletion, and the AZFb microdeletion on the Y chromosome. Other single gene defects were private and found in consanguineous families...
April 5, 2018: Human Reproduction
https://www.readbyqxmd.com/read/29658579/identification-of-tyr-mutations-in-patients-with-oculocutaneous-albinism
#12
Wan Sun, Yanjie Shen, Shan Shan, Liyun Han, Yang Li, Zheng Zhou, Zilin Zhong, Jianjun Chen
Oculocutaneous albinism (OCA) is a set of autosomal recessive disorders characterized by hypopigmented hair, skin and eyes. Homozygous or compound heterozygous mutations in the tyrosinase (TYR) gene can cause OCA1, which is the most common and severe subtype of albinism. In the present study, 17 patients with non‑syndromic OCA were enrolled from eight provinces of China and were non‑consanguineous, with the exception of Patient 4000301. Total genomic DNA was isolated from peripheral blood. Screening was performed for the whole exons and their flanking regions of the TYR gene using Sanger sequencing and the pathogenicity of variants was predicted using in silico analysis...
April 13, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29657930/establishment-and-development-of-the-first-biobank-of-inflammatory-bowel-disease-suspected-to-primary-immunodeficiency-diseases-in-iran
#13
Roya Sherkat, Soodabeh Rostami, Majid Yaran, Mohammad Hassan Emami, Hosein Saneian, Hamid Tavakoli, Peyman Adibi, Mahdieh Behnam, Saba Sheykhbahaei, Bahram Bagherpour, Razieh Khoshnevisan, Somayeh Najafi
Background: Inflammatory bowel disease (IBD) might be an immunodeficiency rather than an excessive inflammatory reaction. IBD, suspected to primary immunodeficiency diseases biobank (IBDSPIDB) as a resource for researches can help improve the prevention, diagnosis, and illness treatment and the health promotion throughout the society. Therefore, we launched the biobank of IBDSPID for the first time in Iran. Materials and Methods: This study was designed to provide the IBDSPIDB to have a high-quality DNA, RNA, and cDNA...
2018: Advanced Biomedical Research
https://www.readbyqxmd.com/read/29655942/pink1-p-k520rfsx3-mutation-identified-in-a-chinese-family-with-early-onset-parkinson-s-disease
#14
Peng Wang, Yi Guo, Chengyuan Song, Yiming Liu, Hao Deng
Parkinson's disease (PD) features selective loss of dopaminergic neurons of the substantia nigra pars compacta accompanied by the accumulation and aggregation of alpha-synuclein in Lewy bodies. PTEN induced putative kinase 1 gene (PINK1) mutations are the second most common genetic cause of autosomal recessive early-onset Parkinson's disease (EOPD). A single nucleotide deletion in PINK1 exon 8 (c.1557delG) was identified in a consanguineous Chinese family with EOPD. The homozygous deletion was co-segregated with disease in the family and resulted in a frameshift after codon 520 with a premature termination at codon 522 (p...
April 12, 2018: Neuroscience Letters
https://www.readbyqxmd.com/read/29655802/mars-variant-associated-with-both-recessive-interstitial-lung-and-liver-disease-and-dominant-charcot-marie-tooth-disease
#15
Jonathan Rips, Rebecca Meyer-Schuman, Oded Breuer, Reuven Tsabari, Avraham Shaag, Shoshana Revel-Vilk, Shimon Reif, Orly Elpeleg, Anthony Antonellis, Tamar Harel
Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes responsible for charging tRNA with cognate amino acids during protein translation. Non-canonical functions are increasingly recognized, and include transcription and translation control and extracellular signaling. Monoallelic mutations in genes encoding several ARSs have been identified in axonal Charcot-Marie-Tooth (CMT2) disease, whereas biallelic mutations in ARS loci have been associated with multi-tissue syndromes, variably involving the central nervous system, lung, and liver...
April 12, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29644240/consanguineous-marriage-as-a-risk-factor-for-developing-keratoconus
#16
Hossein Jamali, Vahid Beigi, Ali Sadeghi-Sarvestani
Heredity plays an important role in keratoconus (KC). Consanguineous marriage (CM) can affect the transmission of recessively inherited conditions. We aimed to investigate the role of consanguineous marriage in the development of KC. This study included two groups: the first group comprised 415 patients who underwent surgery for KC for the first time at Khalili University Hospital (Shiraz, Iran), between 2010 and 2014; the second group comprised 415 healthy individuals who served as age- and sex-matched controls for the patient group...
2018: Medical Hypothesis, Discovery and Innovation in Ophthalmology
https://www.readbyqxmd.com/read/29642973/enhancing-health-literacy-through-co-design-development-of-culturally-appropriate-materials-on-genetic-risk-and-customary-consanguineous-marriage
#17
Parveen Azam Ali, Sarah Salway, Elizabeth Such, Andrew Dearden, Matt Willox
AimTo develop a simple health literacy intervention aimed at supporting informed reproductive choice among members of UK communities practising customary consanguineous marriage. BACKGROUND: The contribution of 'health literacy' to reducing health inequalities and improving primary health-care efficiency is increasingly recognised. Enhancing genetic literacy has received particular attention recently. Consanguineous marriage is customarily practised among some UK minority ethnic communities and carries some increased risk of recessive genetic disorders among offspring compared with unions among unrelated partners...
April 12, 2018: Primary Health Care Research & Development
https://www.readbyqxmd.com/read/29629049/risk-factors-associated-with-congenital-hypothyroidism-a-case-control-study-in-southeast-iran
#18
Mohammad Khammarnia, Fariba Ramezani Siakhulak, Hossein Ansari, Mostafa Peyvand
Background and aim: Congenital hypothyroidism (CH) is known as one of the most common preventable cause of mental retardation. This study aimed to determine factors associated with CH in Iran. Methods: This case-control study was conducted on 160 children under one year old in Zahedan in southeast Iran in 2016. The neonates who were born from March 1, 2015 to March 19, 2016 and had undergone a screening program for CH were the study population. The neonates with serum TSH > 10mIu/L and T4 < 6...
February 2018: Electronic Physician
https://www.readbyqxmd.com/read/29627917/autosomal-short-tandem-repeat-variations-and-population-genetic-data-on-23-systems-in-seven-major-subpopulations-from-lebanon
#19
Ansar El Andari, Mira Khazzouh, Issam Mansour
Population allele frequency is an indicator of population genetic diversity and plays significant roles in DNA profiling interpretation in human identification, kinship, and forensic testing. The Lebanese population is a mosaic of 18 religious communities with high rates of consanguinity and endogamy. Allele frequencies for 23 STR loci were estimated and analyzed in the seven major Lebanese religious subcommunities (Muslims Shiaa, Sunni, and Druze, and Christians Orthodox, Maronite, and Catholics), to assess possible significant differences among their STR allele frequencies...
April 7, 2018: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/29626607/prevalence-clinical-characteristics-and-long-term-outcomes-of-classical-11-%C3%AE-hydroxylase-deficiency-11bohd-in-turkish-population-and-novel-mutations-in-cyp11b1-gene
#20
Firdevs Baş, Güven Toksoy, Berrin Ergun-Longmire, Zehra Oya Uyguner, Zehra Yavaş Abalı, Şükran Poyrazoğlu, Volkan Karaman, Şahin Avcı, Umut Altunoğlu, Ruveyde Bundak, Birsen Karaman, Seher Başaran, Feyza Darendeliler
Congenital adrenal hyperplasia (CAH) due to 11β-hydroxylase deficiency (11BOHD) is a rare autosomal recessive disorder and the second most common form of CAH. AIM: To investigate genotype-phenotype correlation and to evaluate clinical characteristics and long-term outcomes of patients with 11BOHD. METHODS: A total of 28 patients (n = 14, 46,XX; n = 14, 46,XY) with classical 11BOHD from 25 unrelated families were included in this study. Screening of CYP11B1 is performed by Sanger sequencing...
April 4, 2018: Journal of Steroid Biochemistry and Molecular Biology
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