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https://www.readbyqxmd.com/read/28527255/-oral-mucosa-analog-allografts-in-non-consanguineous-rats
#1
Luis González, Karla Padrón, Siham Salmen, Elsy Jerez, Lorena Dávila, Eduvigis Solórzano
INTRODUCTION: Although there are therapeutic options for the treatment of oral mucosa defects, the need for functional, anatomical and aesthetically similar substitutes persists, as well as for solutions to reduce autologous grafts morbidity. OBJECTIVE: To determine clinical and histological compatibility of equivalent oral mucosa allografts generated through tissue engineering in non-consanguineous rats. MATERIALS AND METHODS: We used a sample of oral mucosa from Sprague Dawley rats to obtain a fibroblast culture and a keratinocytes and fibroblasts co-culture...
January 24, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28515550/communication-impairments-in-children-with-inborn-errors-of-metabolism-a-preliminary-study
#2
Shivani Tiwari, Divya Kallianpur, Kelly Ann DeSilva
PURPOSE: Inborn Errors of Metabolism (IEMs) are a group of complex genetic conditions, predominantly affecting the pediatric population. While the understanding and identification of various IEMs has significantly improved over recent times, not much is known about the communication disorders in this population. The present study focused on identification and profiling of communication impairments in children diagnosed with IEMs. METHODS: Data was obtained retrospectively from medical records of children visiting a tertiary care hospital over a period of ten years (2005 - 2014)...
March 2017: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/28515190/interaction-of-ace-genotype-and-salt-intake-on-hypertension-among-chinese-kazakhs-results-from-a-population-based-cross-sectional-study
#3
Yuyan Wang, Biao Zhang, Lei Hou, Wei Han, Fang Xue, Yanhong Wang, Yong Tang, Shaohua Liang, Weizhi Wang, Kuliqian Asaiti, Zixing Wang, Yaoda Hu, Lei Wang, Changchun Qiu, Mingtao Zhang, Jingmei Jiang
OBJECTIVES: To explore the effect of interaction between ACE genotype and salt intake on hypertension among Chinese Kazakhs, and to compare applications of interactions between logistic model and generalised partially linear tree-based regression (GPLTR) model. DESIGN: Population-based cross-sectional study. SETTING: Hong Dun, North Xinjiang, China. PARTICIPANTS: Non-consanguineous Chinese Kazakh participants (n=916, 342 men and 574 women) aged ≥30 years...
May 17, 2017: BMJ Open
https://www.readbyqxmd.com/read/28513998/ibd-due-to-pid-inflammatory-bowel-disease-caused-by-primary-immunodeficiencies-clinical-presentations-review-of-literature-and-proposal-of-a-rational-diagnostic-algorithm
#4
REVIEW
Daniel Tegtmeyer, Maximilian Seidl, Patrick Gerner, Ulrich Baumann, Christian Klemann
Inflammatory bowel diseases (IBD) including Crohn's disease (CD) and ulcerative colitis (UC) have a multifactorial pathogenesis with complex interactions between polygenetic predispositions and environmental factors. However, IBD can also be caused by monogenic diseases, such as primary immunodeficiencies (PID). Recently, an increasing number of these altogether rare diseases has been described to present often primarily, or solely as IBD. Early recognition of these conditions enables adaption of therapies and thus directly benefits the course of IBDs...
May 17, 2017: Pediatric Allergy and Immunology
https://www.readbyqxmd.com/read/28511177/familial-hyperkalemia-and-hypertension-fhht-and-klhl3-description-of-a-family-with-a-new-recessive-mutation-s553l-compared-to-a-family-with-a-dominant-mutation-q309r-with-analysis-of-urinary-sodium-chloride-cotransporter
#5
Orit Kliuk-Ben Bassat, Vered Carmon, Aaron Hanukoglu, Liat Ganon, Eias Massalha, Eliezer J Holtzman, Zvi Farfel, Haim Mayan
BACKGROUND: Familial hyperkalemia and hypertension (FHHt) is an inherited disorder manifested by hyperkalemia and hypertension. The following four causative genes were identified: WNK1, WNK4, CUL3, and KLHL3. For the first 3 genes, inheritance is autosomal dominant. For KLHL3, inheritance is mostly dominant. A few cases with autosomal recessive disease were described. The mechanism of these 2 modes of inheritance is not clear. In the recessive form, the phenotype of heterozygotes is not well described...
May 17, 2017: Nephron
https://www.readbyqxmd.com/read/28511025/co-inheritance-of-the-membrane-frizzled-related-protein-ocular-phenotype-and-glycogen-storage-disease-type-ib
#6
Maha Mameesh, Anuradha Ganesh, Beena Harikrishna, Sana Al Zuhaibi, Patrick Scott, Sami Al Kalbani, Khalid Al Thihli
AIM: To report co-occurrence of two rare recessive conditions, the membrane frizzled-related protein (MFRP)-related ocular phenotype and glycogen storage disease type 1b (GSD-1b), in three siblings in an Omani family. BACKGROUND: Biallelic mutations in the MFRP gene (chromosome 11q23) result in a distinct ocular phenotype characterized by retinitis pigmentosa, foveoschisis, optic nerve head drusen, and posterior microphthalmos. GSD-1b is an autosomal-recessive disorder caused by mutations in SLC37A4 gene located in the same chromosomal region...
May 16, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28505210/whole-exome-sequencing-of-a-consanguineous-family-identifies-the-possible-modifying-effect-of-a-globally-rare-ak5-allelic-variant-in-celiac-disease-development-among-saudi-patients
#7
Jumana Yousuf Al-Aama, Noor Ahmad Shaik, Babajan Banaganapalli, Mohammed A Salama, Omran Rashidi, Ahmed N Sahly, Mohammed O Mohsen, Harbi A Shawoosh, Hebah Ahmad Shalabi, Mohammad Al Edreesi, Sameer E Alharthi, Jun Wang, Ramu Elango, Omar I Saadah
Celiac disease (CD), a multi-factorial auto-inflammatory disease of the small intestine, is known to occur in both sporadic and familial forms. Together HLA and Non-HLA genes can explain up to 50% of CD's heritability. In order to discover the missing heritability due to rare variants, we have exome sequenced a consanguineous Saudi family presenting CD in an autosomal recessive (AR) pattern. We have identified a rare homozygous insertion c.1683_1684insATT, in the conserved coding region of AK5 gene that showed classical AR model segregation in this family...
2017: PloS One
https://www.readbyqxmd.com/read/28503822/constitutional-mismatch-repair-deficiency-in-a-healthy-child-on-the-spot-diagnosis
#8
M Suerink, T P Potjer, A B Versluijs, S W Ten Broeke, C M Tops, K Wimmer, M Nielsen
Constitutional mismatch repair deficiency (CMMRD) is a rare, recessively inherited childhood cancer predisposition syndrome caused by bi-allelic germline mutations in one of the mismatch repair genes. The CMMRD phenotype overlaps with that of neurofibromatosis type 1 (NF1), since many patients have multiple café-au-lait macules (CALM) and other NF1 signs, but no germline NF1 mutations. We report of a case of a healthy six-year-old girl who fulfilled the diagnostic criteria of NF1 with >6 CALM and freckling...
May 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28503715/deficiency-of-interleukin-1-receptor-antagonist-dira-report-of-the-first-indian-patient-and-a-novel-deletion-affecting-il1rn
#9
Leonardo O Mendonca, Louise Malle, Frank X Donovan, Settara C Chandrasekharappa, Gina A Montealegre Sanchez, Megha Garg, Ulf Tedgard, Mariana Castells, Shiv S Saini, Sourabh Dutta, Raphaela Goldbach-Mansky, Deepti Suri, Adriana A Jesus
PURPOSE: Deficiency of interleukin-1 receptor antagonist (DIRA) is a rare life-threatening autoinflammatory disease caused by autosomal recessive mutations in IL1RN. DIRA presents clinically with early onset generalized pustulosis, multifocal osteomyelitis, and elevation of acute phase reactants. We evaluated and treated an antibiotic-unresponsive patient with presumed DIRA with recombinant IL-1Ra (anakinra). The patient developed anaphylaxis to anakinra and was subsequently desensitized...
May 15, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28502253/practice-of-consanguinity-and-attitudes-towards-risk-in-the-pashtun-population-of-khyber-pakhtunkhwa-pakistan
#10
Ruqiya Pervaiz, Faisal Faisal, Nedime Serakinci
This study aimed to investigate the frequency of consanguineous marriages and level of understanding of consanguinity-associated genetic risks in the Pashtun population, Pakistan. Information was gathered using a detailed questionnaire completed by 1500 individuals of both sexes over the 11-month period between April 2015 and February 2016. The mean inbreeding coefficient of the respondents was calculated and a five-point response scale was used to assess their understanding of consanguinity risks. The frequency of consanguineous marriages in the Pashtun population was found to be 58...
May 15, 2017: Journal of Biosocial Science
https://www.readbyqxmd.com/read/28502045/a-clinical-and-molecular-genetic-study-of-50-families-with-autosomal-recessive-parkinsonism-revealed-known-and-novel-gene-mutations
#11
Shaghayegh Taghavi, Rita Chaouni, Abbas Tafakhori, Luis J Azcona, Saghar Ghasemi Firouzabadi, Mir Davood Omrani, Javad Jamshidi, Babak Emamalizadeh, Gholam Ali Shahidi, Mona Ahmadi, Seyed Amir Hassan Habibi, Azadeh Ahmadifard, Atena Fazeli, Marzieh Motallebi, Peyman Petramfar, Saeed Askarpour, Shiva Askarpour, Hossein Ali Shahmohammadibeni, Neda Shahmohammadibeni, Hajar Eftekhari, Amir Ehtesham Shafiei Zarneh, Saeed Mohammadihosseinabad, Mehdi Khorrami, Safa Najmi, Ahmad Chitsaz, Parasto Shokraeian, Hossein Ehsanbakhsh, Jalal Rezaeidian, Reza Ebrahimi Rad, Faranak Madadi, Monavvar Andarva, Elham Alehabib, Minoo Atakhorrami, Seyed Erfan Mortazavi, Zahra Azimzadeh, Mahdis Bayat, Amir Mohammad Besharati, Mohammad Ali Harati-Ghavi, Samareh Omidvari, Zahra Dehghani-Tafti, Faraz Mohammadi, Banafsheh Mohammad Hossein Pour, Hamid Noorollahi Moghaddam, Ehsan Esmaili Shandiz, Arman Habibi, Zahra Taherian-Esfahani, Hossein Darvish, Coro Paisán-Ruiz
In this study, the role of known Parkinson's disease (PD) genes was examined in families with autosomal recessive (AR) parkinsonism to assist with the differential diagnosis of PD. Some families without mutations in known genes were also subject to whole genome sequencing with the objective to identify novel parkinsonism-related genes. Families were selected from 4000 clinical files of patients with PD or parkinsonism. AR inheritance pattern, consanguinity, and a minimum of two affected individuals per family were used as inclusion criteria...
May 13, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28496998/multisystem-involvement-in-a-patient-with-a-ptch1-mutation-clinical-and-imaging-findings
#12
Antonio Richieri-Costa, Siulan Vendramini-Pittoli, Nancy Mizue Kokitsu-Nakata, Roseli Maria Zechi-Ceide, Camila Wenceslau Alvarez, Lucilene Arilho Ribeiro-Bicudo
In this article, we report on a Brazilian female patient born to consanguineous parents and presenting with alobar holoprosencephaly, severe eye involvement, and unusual skin hyperpigmented lesions. She was found to have a mutation (c.2240T > C; p.Val751Gly) in exon 15 of the PTCH1 gene. Mutations in this gene are associated with the nevoid basal cell carcinoma syndrome (NBCCS, OMIM 109400) and, in other instances, with holoprosencephaly (holoprosencephaly-7, OMIM 610828). Severe eye involvement ranging from orbital coloboma to microphthalmia has been seldom reported in patients with NBCCS with PTCH1 mutations...
June 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28493104/hypomyelinating-leukodystrophy-associated-with-a-deleterious-mutation-in-the-atrn-gene
#13
Maher Awni Shahrour, Motee Ashhab, Simon Edvardson, Michal Gur, Bassam Abu-Libdeh, Orly Elpeleg
Hypomyelinating leukodystrophies are a group of neurodevelopmental disorders that affect proper formation of the myelin sheath in the central nervous system. They are characterized by developmental delay, hypotonia, spasticity, and variable intellectual disability. We used whole exome analysis to study the molecular basis of hypomyelinating leukodystrophy in two sibs from a consanguineous family. A homozygous mutation, c.3068+5G>A, was identified in the ATRN gene, with the consequent insertion of an intronic sequence into the patients' cDNA and a predicted premature termination of the ATRN polypeptide...
May 10, 2017: Neurogenetics
https://www.readbyqxmd.com/read/28492530/a-comprehensive-strategy-for-exome-based-preconception-carrier-screening
#14
Suzanne C E H Sallevelt, Bart de Koning, Radek Szklarczyk, Aimee D C Paulussen, Christine E M de Die-Smulders, Hubert J M Smeets
PURPOSE: Whole-exome sequencing (WES) provides the possibility of genome-wide preconception carrier screening (PCS). Here, we propose a filter strategy to rapidly identify the majority of relevant pathogenic mutations. METHODS: Our strategy was developed using WES data from eight consanguineous and five fictive nonconsanguineous couples and was subsequently applied to 20 other fictive nonconsanguineous couples. Presumably pathogenic variants based on frequency and database annotations or generic characteristics and mutation type were selected in genes shared by the couple and in the female's X-chromosome...
May 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28492150/selective-screening-for-organic-acidurias-and-amino-acidopathies-in-pakistani-children
#15
Noreen Abbas Sherazi, Aysha Habib Khan, Lena Jafri, Azeema Jamil, Nasir Ali Khan, Bushra Afroze
OBJECTIVE: To determine the frequency of organic acidurais (OA) and amino acidopathies (AA) in selected high-risk patients screened in two years. STUDY DESIGN: Retrospective Observational study. PLACE AND DURATION OF STUDY: The Aga Khan University Hospital (AKUH), Karachi, from January 2013 to December 2014. METHODOLOGY: Patients with OA and AA were included in the study and patients with IMDs other than OA and AA were excluded...
April 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28488683/progressive-hereditary-spastic-paraplegia-caused-by-a-homozygous-ky-mutation
#16
Yuval Yogev, Yonatan Perez, Iris Noyman, Anwar Abu Madegem, Hagit Flusser, Zamir Shorer, Eugene Cohen, Leonid Kachko, Analia Michaelovsky, Ruth Birk, Arie Koifman, Max Drabkin, Ohad Wormser, Daniel Halperin, Rotem Kadir, Ohad S Birk
Twelve individuals of consanguineous Bedouin kindred presented with autosomal recessive progressive spastic paraplegia evident as of age 0-24 months, with spasticity of lower limbs, hyperreflexia, toe walking and equinus deformity. Kyphoscolisois was evident in older patients. Most had atrophy of the lateral aspects of the tongue and few had intellectual disability. Nerve conduction velocity, electromyography and head and spinal cord magnetic resonance imaging were normal in tested subjects. Muscle biopsy showed occasional central nuclei and fiber size variability with small angular fibers...
May 10, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28488682/exome-sequencing-revealed-a-splice-site-variant-in-the-iqce-gene-underlying-post-axial-polydactyly-type-a-restricted-to-lower-limb
#17
Muhammad Umair, Khadim Shah, Bader Alhaddad, Tobias B Haack, Elisabeth Graf, Tim M Strom, Thomas Meitinger, Wasim Ahmad
Polydactyly is characterized by an extra supernumerary digit/toe with or without bony element. To date variants in four genes GLI3, ZNF141, MIPOL1 and PITX1 have been implicated in developing non-syndromic form of polydactyly. The present study involved characterization of large consanguineous family of Pakistani origin segregating post-axial polydactyly type A, restricted to lower limb, in autosomal recessive pattern. DNA of two affected members in the family was subjected to exome sequencing. Sanger sequencing was then followed to validate segregation of the variants in the family members...
May 10, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28488678/a-missense-variant-in-itpr1-provides-evidence-for-autosomal-recessive-sca29-with-asymptomatic-cerebellar-hypoplasia-in-carriers
#18
Joakim Klar, Zafar Ali, Muhammad Farooq, Kamal Khan, Johan Wikström, Maria Iqbal, Shumaila Zulfiqar, Sanam Faryal, Shahid Mahmood Baig, Niklas Dahl
Spinocerebellar ataxias (SCA) comprise a heterogeneous group of inherited neurological disorders characterized by a range of symptoms from both cerebellar and extra cerebellar structures. We investigated the cause of autosomal recessive, congenital SCA in six affected family members from a large consanguineous family. Using whole-exome sequencing, we identified a homozygous ITPR1 missense variant [c.5360T>C; p.(L1787P)] segregating in all affected individuals. Heterozygous carriers were asymptomatic despite cerebellar hypoplasia...
May 10, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28488351/homozygous-microdeletion-of-the-eri1-and-mfhas1-genes-in-a-patient-with-intellectual-disability-limb-abnormalities-and-cardiac-malformation
#19
Nancy Choucair, Mariam Rajab, André Mégarbané, Eliane Chouery
A male child, born from consanguineous parents and having intellectual disability, short stature, dysmorphic facial features, synpolydactyly, and cardiac malformations is reported. Chromosomal microarray analysis showed that the patient presents with an 8p23.1 homozygous deletion, containing the microRNA miR-4660, the exoribonuclease 1 (ERI1), and malignant fibrous histiocytoma amplified sequence 1 (MFHAS1) genes. The microRNA miR-4660 has no known function. MFHAS1 is an immunomodulatory protein involved in Toll-like receptor signaling, erythropoiesis, and cancer...
May 9, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28486267/evaluation-of-patients-with-febrile-seizure-risk-factors-reccurence-treatment-and-prognosis
#20
Rahime Renda, Deniz Yüksel, Y K Yavuz Gürer
INTRODUCTION: Febrile convulsion (FC) is the most common neurological disorder in childhood. The aim of this study was to determine the risk factors for recurrence and the development of epilepsy from the demographic data of these patients. METHODS: A retrospective study was made of 680 patients with FC who presented to our hospital. Patients with only FC were defined as group 1 and those who developed epilepsy after FC as group 2. Comparisons were made between the 2 groups of the demographic parameters, parental consanguinity, familial history of FCs or epilepsy, criteria for starting prophylactic treatment, response to treatment, risk factors for recurrence, and results of electroencephalogram...
May 8, 2017: Pediatric Emergency Care
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