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[PMID]:29390291
[Au] Autor:Al Kaissi A; Kuranova M; Pleskach N; Kenis V; Nassib NM; Grill F; Ganger R; Gerit Kircher S
[Ad] Endereço:Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital.
[Ti] Título:Are parents of children with Cockayne syndrome manifesting features of the disorder?: Case reports.
[So] Source:Medicine (Baltimore);96(50):e8970, 2017 Dec.
[Is] ISSN:1536-5964
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:RATIONALE: Postnatal growth failure and progressive neurologic dysfunction and increasing multiorgan involvement are the main clinical features of Cockayne syndrome (CS). CS is a rare autosomal recessive disorder of the group of DNA repair diseases. Usually, genetic carriers, such as parents of patients, are not at risk for developing the disease. PATIENT CONCERNS: A series of 14 family subjects (6 children with age range from 6 months to 4 years with CS) and 9 parents (aged from 23 to 34 years) from consanguineous families is reported. DIAGNOSES: Ultraviolet irradiation studies were performed on these children and were indicative of CS. INTERVENTIONS: Cells of skin fibroblast from these children with the disease showed a symmetrical accumulation of chromosomal aberrations and the nuclear lamina aberrations. Our results showed a significant and simultaneous increase of percent of blebbs and invaginations of the nuclear lamina in all cases CS. The pronounced changes in 12.6 times at atypical form (girl); in 8.5 times at severe form (boy) and in 5.6 times at light form (boy). Percentage of metaphases with chromosomal aberration is significantly higher in CS cells: in 4 times at atypical form, in 3 times at hard form, and in 2 times at light form. The parents of these families (consanguineous families) were intellectually variable between normal/borderline intelligence, though most manifested a constellation of skeletal and extraskeletal abnormalities and notably, the characteristic cachectic facial appearance. The parents were considered as manifesting the mild type of CS, because they showed no abnormalities of DNA repair. OUTCOMES: Clinical manifestations in heterozygote carriers of an autosomal recessive disorders is a rare phenomenon as carriers are usually healthy. LESSONS: The interesting finding of the families studied is that there appeared to be a multitude of carriers manifesting with normal to borderline intelligence but with a wide spectrum of skeletal and extraskeletal abnormalities.
[Mh] Termos MeSH primário: Síndrome de Cockayne/genética
Pais
[Mh] Termos MeSH secundário: Adulto
Pré-Escolar
Consanguinidade
Feminino
Predisposição Genética para Doença
Heterozigoto
Seres Humanos
Lactente
Inteligência
Masculino
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180301
[Lr] Data última revisão:
180301
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:180203
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000008970


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[PMID]:29362361
[Au] Autor:Yousri NA; Fakhro KA; Robay A; Rodriguez-Flores JL; Mohney RP; Zeriri H; Odeh T; Kader SA; Aldous EK; Thareja G; Kumar M; Al-Shakaki A; Chidiac OM; Mohamoud YA; Mezey JG; Malek JA; Crystal RG; Suhre K
[Ad] Endereço:Genetic Medicine, Weill Cornell Medicine-Qatar, PO Box 24144, Doha, Qatar. nay2005@qatar-med.cornell.edu.
[Ti] Título:Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population.
[So] Source:Nat Commun;9(1):333, 2018 01 23.
[Is] ISSN:2041-1723
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Metabolomics-genome-wide association studies (mGWAS) have uncovered many metabolic quantitative trait loci (mQTLs) influencing human metabolic individuality, though predominantly in European cohorts. By combining whole-exome sequencing with a high-resolution metabolomics profiling for a highly consanguineous Middle Eastern population, we discover 21 common variant and 12 functional rare variant mQTLs, of which 45% are novel altogether. We fine-map 10 common variant mQTLs to new metabolite ratio associations, and 11 common variant mQTLs to putative protein-altering variants. This is the first work to report common and rare variant mQTLs linked to diseases and/or pharmacological targets in a consanguineous Arab cohort, with wide implications for precision medicine in the Middle East.
[Mh] Termos MeSH primário: Árabes
Exoma
Estudo de Associação Genômica Ampla
Metaboloma
Locos de Características Quantitativas
[Mh] Termos MeSH secundário: Adulto
Mapeamento Cromossômico
Estudos de Coortes
Consanguinidade
Feminino
Variação Genética
Genótipo
Sequenciamento de Nucleotídeos em Larga Escala
Seres Humanos
Masculino
Meia-Idade
Oriente Médio
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180222
[Lr] Data última revisão:
180222
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180125
[St] Status:MEDLINE
[do] DOI:10.1038/s41467-017-01972-9


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[PMID]:29351342
[Au] Autor:van der Ven AT; Kobbe B; Kohl S; Shril S; Pogoda HM; Imhof T; Ityel H; Vivante A; Chen J; Hwang DY; Connaughton DM; Mann N; Widmeier E; Taglienti M; Schmidt JM; Nakayama M; Senguttuvan P; Kumar S; Tasic V; Kehinde EO; Mane SM; Lifton RP; Soliman N; Lu W; Bauer SB; Hammerschmidt M; Wagener R; Hildebrandt F
[Ad] Endereço:Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States of America.
[Ti] Título:A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux.
[So] Source:PLoS One;13(1):e0191224, 2018.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause (40-50%) of chronic kidney disease (CKD) in children. About 40 monogenic causes of CAKUT have so far been discovered. To date less than 20% of CAKUT cases can be explained by mutations in these 40 genes. To identify additional monogenic causes of CAKUT, we performed whole exome sequencing (WES) and homozygosity mapping (HM) in a patient with CAKUT from Indian origin and consanguineous descent. We identified a homozygous missense mutation (c.1336C>T, p.Arg446Cys) in the gene Von Willebrand factor A domain containing 2 (VWA2). With immunohistochemistry studies on kidneys of newborn (P1) mice, we show that Vwa2 and Fraser extracellular matrix complex subunit 1 (Fras1) co-localize in the nephrogenic zone of the renal cortex. We identified a pronounced expression of Vwa2 in the basement membrane of the ureteric bud (UB) and derivatives of the metanephric mesenchyme (MM). By applying in vitro assays, we demonstrate that the Arg446Cys mutation decreases translocation of monomeric VWA2 protein and increases translocation of aggregated VWA2 protein into the extracellular space. This is potentially due to the additional, unpaired cysteine residue in the mutated protein that is used for intermolecular disulfide bond formation. VWA2 is a known, direct interactor of FRAS1 of the Fraser-Complex (FC). FC-encoding genes and interacting proteins have previously been implicated in the pathogenesis of syndromic and/or isolated CAKUT phenotypes in humans. VWA2 therefore constitutes a very strong candidate in the search for novel CAKUT-causing genes. Our results from in vitro experiments indicate a dose-dependent neomorphic effect of the Arg446Cys homozygous mutation in VWA2.
[Mh] Termos MeSH primário: Biomarcadores Tumorais/genética
Síndrome de Fraser/genética
Mutação de Sentido Incorreto
Anormalidades Urogenitais/genética
Refluxo Vesicoureteral/genética
[Mh] Termos MeSH secundário: Sequência de Aminoácidos
Substituição de Aminoácidos
Animais
Animais Recém-Nascidos
Biomarcadores Tumorais/química
Criança
Consanguinidade
Sequência Conservada
Éxons
Proteínas da Matriz Extracelular/genética
Proteínas da Matriz Extracelular/metabolismo
Regulação da Expressão Gênica no Desenvolvimento
Homozigoto
Seres Humanos
Masculino
Camundongos
Modelos Animais
Modelos Moleculares
Linhagem
Homologia de Sequência de Aminoácidos
Sistema Urogenital/crescimento & desenvolvimento
Sistema Urogenital/metabolismo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Biomarkers, Tumor); 0 (Extracellular Matrix Proteins); 0 (Fras1 protein, mouse); 0 (VWA2 protein, human); 0 (Vwa2 protein, mouse)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180221
[Lr] Data última revisão:
180221
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180120
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0191224


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[PMID]:29248929
[Au] Autor:Amasdl S; Smaili W; Natiq A; Hassani A; Sbiti A; Agadr A; Sanlaville D; Sefiani A
[Ad] Endereço:Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V Souissi, Rabat, Morocco.
[Ti] Título:Familial X/Y Translocation Encompassing ARSE in Two Moroccan Siblings with Sensorineural Deafness.
[So] Source:Cytogenet Genome Res;153(2):66-72, 2017.
[Is] ISSN:1424-859X
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:Unbalanced translocations involving X and Y chromosomes are rare and associated with a contiguous gene syndrome. The clinical phenotype is heterogeneous including mainly short stature, chondrodysplasia punctata, ichthyosis, hypogonadism, and intellectual disability. Here, we report 2 brothers with peculiar gestalt, short stature, and hearing loss, who harbor an X/Y translocation. Physical examination, brainstem acoustic potential evaluation, bone age, hormonal assessment, and X-ray investigations were performed. Because of their dysmorphic features, karyotyping, FISH, and aCGH were carried out. The probands had short stature, hypertelorism, midface hypoplasia, sensorineural hearing loss, normal intelligence as well as slight radial and ulnar bowing with brachytelephalangy. R-banding identified a derivative X chromosome with an abnormally expanded short arm. The mother was detected as a carrier of the same aberrant X chromosome. aCGH disclosed a 3.1-Mb distal deletion of chromosome region Xp22.33pter. This interval encompasses several genes, especially the short stature homeobox (SHOX) and arylsulfatase (ARSE) genes. The final karyotype of the probands was: 46,Y,der(X),t(X;Y)(p22;q12).ish der(X)(DXYS129-,DXYS153-)mat.arr[hg19] Xp22.33(61091_2689408)×1mat,Xp22.33(2701273_3258404)×0mat,Yq11.222q12 (21412851_59310245)×2. Herein, we describe a Moroccan family with a maternally inherited X/Y translocation and discuss the genotype-phenotype correlations according to the deleted genes.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/genética
Arilsulfatases/genética
Cromossomos Humanos X/genética
Cromossomos Humanos Y/genética
Perda Auditiva Bilateral/genética
Perda Auditiva Neurossensorial/genética
Translocação Genética
[Mh] Termos MeSH secundário: Arilsulfatases/deficiência
Cromossomos Humanos X/ultraestrutura
Cromossomos Humanos Y/ultraestrutura
Consanguinidade
Feminino
Seres Humanos
Hipertelorismo/genética
Recém-Nascido
Cariotipagem
Masculino
Meia-Idade
Marrocos
Linhagem
Fenótipo
Rádio (Anatomia)/anormalidades
Escoliose/genética
Irmãos
Ulna/anormalidades
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.1.6.- (ARSE protein, human); EC 3.1.6.1 (Arylsulfatases)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180220
[Lr] Data última revisão:
180220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171218
[St] Status:MEDLINE
[do] DOI:10.1159/000485071


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[PMID]:29217198
[Au] Autor:Maalej M; Tej A; Bouguila J; Tilouche S; Majdoub S; Khabou B; Tabbebi M; Felhi R; Ammar M; Mkaouar-Rebai E; Keskes L; Boughamoura L; Fakhfakh F
[Ad] Endereço:Laboratory of Molecular and Functional Genetics, Faculty of Science of Sfax, University of Sfax, Tunisia; Laboratory of Human Molecular Genetics, Faculty of Medicine of Sfax, University of Sfax, Tunisia. Electronic address: marwamaalej7@gmail.com.
[Ti] Título:Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family.
[So] Source:Biochem Biophys Res Commun;495(2):1730-1737, 2018 01 08.
[Is] ISSN:1090-2104
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Deficiency of the mitochondrial enzyme succinyl COA ligase (SUCL) is associated with encephalomyopathic mtDNA depletion syndrome and methylmalonic aciduria. This disorder is caused by mutations in both SUCL subunits genes: SUCLG1 (α subnit) and SUCLA2 (ß subnit). We report here, two Tunisian patients belonging to a consanguineous family with mitochondrial encephalomyopathy, hearing loss, lactic acidosis, hypotonia, psychomotor retardation and methylmalonic aciduria. Mutational analysis of SUCLG1 gene showed, for the first time, the presence of c.41T > C in the exon 1 at homozygous state. In-silico analysis revealed that this mutation substitutes a conserved methionine residue to a threonine at position 14 (p.M14T) located at the SUCLG1 protein mitochondrial targeting sequence. Moreover, these analysis predicted that this mutation alter stability structure and mitochondrial translocation of the protein. In Addition, a decrease in mtDNA copy number was revealed by real time PCR in the peripheral blood leukocytes in the two patients compared with controls.
[Mh] Termos MeSH primário: Encefalomiopatias Mitocondriais/enzimologia
Encefalomiopatias Mitocondriais/genética
Mutação de Sentido Incorreto
Succinato-CoA Ligases/deficiência
Succinato-CoA Ligases/genética
[Mh] Termos MeSH secundário: Acidose Láctica/genética
Erros Inatos do Metabolismo dos Aminoácidos/genética
Substituição de Aminoácidos
Pré-Escolar
Consanguinidade
DNA Mitocondrial/genética
Estabilidade Enzimática/genética
Feminino
Dosagem de Genes
Perda Auditiva/genética
Homozigoto
Seres Humanos
Lactente
Masculino
Hipotonia Muscular/genética
Succinato-CoA Ligases/química
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (DNA, Mitochondrial); EC 6.2.1.- (SUCLG1 protein, human); EC 6.2.1.- (Succinate-CoA Ligases)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180212
[Lr] Data última revisão:
180212
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171209
[St] Status:MEDLINE


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[PMID]:29226984
[Au] Autor:Shah K; Nasir A; Irfanullah; Shahzad S; Khan S; Ahmad W
[Ad] Endereço:Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, Pakistan.
[Ti] Título:A novel homozygous mutation disrupting the initiation codon in the SLURP1 gene underlies mal de Meleda in a consanguineous family.
[So] Source:Clin Exp Dermatol;41(6):675-679, 2016 Aug.
[Is] ISSN:1365-2230
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Mal de Meleda (MDM) is a palmoplantar keratoderma (PPK), characterized by hyperkeratosis of the palms and soles, and keratotic skin lesions. Patients with MDM can develop perioral erythema, keratotic and lichenoid plaques over the joints (including the elbows and knees), nail abnormalities, joint contractures and stiffness, brachydactyly, sclerodactyly, pseudoainhum, and malodorous maceration. MDM is associated with mutations in the SLURP1 gene. We report a consanguineous family in which MDM was inherited in an autosomal recessive manner. Genotyping using microsatellite markers established linkage in the family to the SLURP1 gene, which has been mapped previously to chromosome 8q24.3. Sequence analysis revealed a homozygous missense mutation (c.2T>C, p.Met1Thr) in affected family members. Molecular docking studies using a ZDOCK server predicted disruption of binding of the mutant variant to its target α7-nAChR. This study further supports the previously reported findings that homozygous mutations in the SLURP1 gene cause MDM.
[Mh] Termos MeSH primário: Antígenos Ly/genética
Códon de Iniciação/genética
Ceratodermia Palmar e Plantar/genética
Mutação de Sentido Incorreto
Ativador de Plasminogênio Tipo Uroquinase/genética
[Mh] Termos MeSH secundário: Antígenos Ly/química
Consanguinidade
Seres Humanos
Linhagem
Estrutura Terciária de Proteína
Ativador de Plasminogênio Tipo Uroquinase/química
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antigens, Ly); 0 (Codon, Initiator); 0 (SLURP1 protein, human); EC 3.4.21.73 (Urokinase-Type Plasminogen Activator)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180117
[Lr] Data última revisão:
180117
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171212
[St] Status:MEDLINE
[do] DOI:10.1111/ced.12864


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[PMID]:28464869
[Au] Autor:Lopes FRL; Monteiro KS; Figueiredo T; Wanderley TDC; Pequeno TA; Lima S; Santos S
[Ad] Endereço:Centre for Public Health Research, Paraiba State University (UEPB), Campina Grande, Brazil.
[Ti] Título:Reliability of information on people with disabilities gathered by community health workers in highly consanguineous communities of Northeastern Brazil.
[So] Source:BMC Health Serv Res;17(1):317, 2017 05 02.
[Is] ISSN:1472-6963
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: In Brazil, community health workers have gathered monthly information on people with disabilities to maintain the Primary Care Information System since 1998; however, few studies have used this database for scientific or public health policy purposes. OBJECTIVES: This study aimed to evaluate the reliability of information on people with disabilities gathered by community health workers in primary care services. METHOD: This was a cross-sectional population-based study conducted in two highly consanguineous communities, involving a population of 18,458 inhabitants in Northeastern Brazil. To study the prevalence of people with disabilities, estimations performed by health workers were compared with those obtained by researchers who interviewed 15.6% of the total population. To study the agreement of the information, data on 106 people with disabilities completed independently by researchers and health workers were compared to evaluate the degree of agreement for 28 variables analysed. Kappa statistics (κ) were used to calculate the inter-rater agreement. RESULTS: The prevalence of disability estimated by community health workers was 3.01 and 2.00% for city A and B, respectively, while the percentages obtained by researchers were 6.72 and 5.65%, respectively, showing an underestimation of prevalence according to community health workers. The Kappa index value obtained for all data analysed (2,589 items excluding losses) was 0.808 (p < 0.01), indicating an almost perfect consistency of information collected by health workers compared to by researchers. CONCLUSION: Community health workers collected information with a high degree of reliability, although the identification of the prevalence of disabled individuals was potentially impaired due to the work process.
[Mh] Termos MeSH primário: Agentes Comunitários de Saúde
Pessoas com Deficiência/estatística & dados numéricos
[Mh] Termos MeSH secundário: Brasil/epidemiologia
Consanguinidade
Estudos Transversais
Feminino
Transtornos da Audição/epidemiologia
Seres Humanos
Deficiência Intelectual/epidemiologia
Masculino
Prevalência
Reprodutibilidade dos Testes
Transtornos da Visão/epidemiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1712
[Cu] Atualização por classe:180117
[Lr] Data última revisão:
180117
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170504
[St] Status:MEDLINE
[do] DOI:10.1186/s12913-017-2267-3


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[PMID]:29287847
[Au] Autor:Kooshavar D; Razipour M; Movasat M; Keramatipour M
[Ad] Endereço:Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
[Ti] Título:Targeted next generation sequencing identified a novel mutation in MYO7A causing Usher syndrome type 1 in an Iranian consanguineous pedigree.
[So] Source:Int J Pediatr Otorhinolaryngol;104:10-13, 2018 Jan.
[Is] ISSN:1872-8464
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Usher syndrome (USH) is characterized by congenital hearing loss and retinitis pigmentosa (RP) with a later onset. It is an autosomal recessive trait with clinical and genetic heterogeneity which makes the molecular diagnosis much difficult. In this study, we introduce a pedigree with two affected members with USH type 1 and represent a cost and time effective approach for genetic diagnosis of USH as a genetically heterogeneous disorder. METHODS: Target region capture in the genes of interest, followed by next generation sequencing (NGS) was used to determine the causative mutations in one of the probands. Then segregation analysis in the pedigree was conducted using PCR-Sanger sequencing. RESULTS: Targeted NGS detected a novel homozygous nonsense variant c.4513G > T (p.Glu1505Ter) in MYO7A. The variant is segregating in the pedigree with an autosomal recessive pattern. CONCLUSION: In this study, a novel stop gained variant c.4513G > T (p.Glu1505Ter) in MYO7A was found in an Iranian pedigree with two affected members with USH type 1. Bioinformatic as well as pedigree segregation analyses were in line with pathogenic nature of this variant. Targeted NGS panel was showed to be an efficient method for mutation detection in hereditary disorders with locus heterogeneity.
[Mh] Termos MeSH primário: Sequenciamento de Nucleotídeos em Larga Escala/métodos
Miosinas/genética
Síndromes de Usher/genética
[Mh] Termos MeSH secundário: Códon sem Sentido
Consanguinidade
Feminino
Homozigoto
Seres Humanos
Irã (Geográfico)
Masculino
Mutação
Linhagem
Fenótipo
Reação em Cadeia da Polimerase
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Codon, Nonsense); EC 3.6.4.1 (Myosins); EC 3.6.4.1 (myosin VIIa)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180116
[Lr] Data última revisão:
180116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171231
[St] Status:MEDLINE


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[PMID]:28743049
[Au] Autor:Ahankari AS; Myles PR; Dixit JV; Tata LJ; Fogarty AW
[Ad] Endereço:Division of Epidemiology and Public Health, Faculty of Medicine and Health Sciences, University of Nottingham, United Kingdom; Halo Medical Foundation India, India. Electronic address: dr.anandahankari@gmail.com.
[Ti] Título:Risk factors for maternal anaemia and low birth weight in pregnant women living in rural India: a prospective cohort study.
[So] Source:Public Health;151:63-73, 2017 Oct.
[Is] ISSN:1476-5616
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: The aim of this prospective study was to estimate the prevalence and risk factors for maternal anaemia and low birth weight (LBW) in pregnant women living in Maharashtra state, India. STUDY DESIGN: This is a prospective study. METHODS: Women between 3 and 5 months of pregnancy were recruited from 34 villages based in Maharashtra state. Baseline data collection, anthropometric measurements and blood investigations were performed. Participants were followed-up to record birth weight. RESULTS: In total, 303 women were eligible, and 287 (95%) provided data. 77% were anaemic, defined as haemoglobin less than 11.0 g/dl at the time of recruitment, with a mean corpuscular volume of 80.5 fl/cell (standard deviation: 7.22, range: 53.4-93.8). The increased risk of anaemia was seen in women with consanguineous marriages (odds ratio [OR]: 2.41, 95% confidence interval [CI]: 1.16-5.01, P = 0.01) after adjustment for potential confounding factors. Postdelivery data from full-term singleton live births demonstrated a 7% prevalence of LBW. Consanguineous marriage was a major risk factor for LBW (OR: 4.10, 95% CI: 1.25-13.41, P = 0.02). The presence of maternal anaemia during 3-5 months of pregnancy was associated with lower risk of LBW (unadjusted OR: 0.34, 95% CI: 0.13-0.92, P = 0.03). CONCLUSION: About 30% of our study participants were in a consanguineous marriage, which was identified as a potentially avoidable risk factor for both anaemia and LBW.
[Mh] Termos MeSH primário: Anemia/epidemiologia
Recém-Nascido de Baixo Peso
População Rural/estatística & dados numéricos
[Mh] Termos MeSH secundário: Adolescente
Adulto
Consanguinidade
Feminino
Seres Humanos
Índia/epidemiologia
Recém-Nascido
Gravidez
Prevalência
Estudos Prospectivos
Fatores de Risco
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180110
[Lr] Data última revisão:
180110
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170726
[St] Status:MEDLINE


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[PMID]:29207948
[Au] Autor:Ali Z; Zulfiqar S; Klar J; Wikström J; Ullah F; Khan A; Abdullah U; Baig S; Dahl N
[Ad] Endereço:Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, BMC Box815, 751 08, Uppsala, Sweden.
[Ti] Título:Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.
[So] Source:BMC Med Genet;18(1):144, 2017 12 06.
[Is] ISSN:1471-2350
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Spinocerebellar ataxias comprise a large and heterogeneous group of disorders that may present with isolated ataxia, or ataxia in combination with other neurologic or non-neurologic symptoms. Monoallelic or biallelic GRID2 mutations were recently reported in rare cases with cerebellar syndrome and variable degree of ataxia, ocular symptoms, hypotonia and developmental delay. CASE PRESENTATION: We report on a consanguineous family with autosomal recessive childhood onset of slowly progressive cerebellar ataxia and delayed psychomotor development in three siblings. MRI of an adult and affected family member revealed slightly widened cerebral and cerebellar sulci, suggesting generalized brain atrophy, and mild cerebellar atrophy. Using whole exome sequencing we identified a novel homozygous missense variant [c.2128C > T, p.(Arg710Trp)] in GRID2 that segregates with the disease. The missense variant is located in a conserved region encoding the extracellular serine-binding domain of the GluD2 protein and predicts a change in conformation of the protein. CONCLUSION: The widespread supratentorial brain abnormalities, absence of oculomotor symptoms, increased peripheral muscle tone and the novel missense mutation add to the clinical and genetic variability in GRID2 associated cerebellar syndrome. The neuroradiological findings in our family indicate a generalized neurodegenerative process to be taken into account in other families segregating complex clinical features and GRID2 mutations.
[Mh] Termos MeSH primário: Encéfalo/patologia
Mutação de Sentido Incorreto
Receptores de Glutamato/genética
[Mh] Termos MeSH secundário: Adulto
Idoso
Sequência de Aminoácidos
Atrofia
Sequência de Bases
Sítios de Ligação
Encéfalo/diagnóstico por imagem
Ataxia Cerebelar/genética
Cerebelo/diagnóstico por imagem
Cerebelo/patologia
Consanguinidade
Deficiências do Desenvolvimento/genética
Feminino
Homozigoto
Seres Humanos
Imagem por Ressonância Magnética
Masculino
Meia-Idade
Modelos Moleculares
Linhagem
Conformação Proteica
Domínios Proteicos
Receptores de Glutamato/química
Receptores de Glutamato/metabolismo
Serina/metabolismo
Sequenciamento Completo do Exoma
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Receptors, Glutamate); 0 (glutamate receptor delta 2); 452VLY9402 (Serine)
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171231
[Lr] Data última revisão:
171231
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171207
[St] Status:MEDLINE
[do] DOI:10.1186/s12881-017-0504-6



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