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[PMID]:27771423
[Au] Autor:Chrzan R; Panek W; Kuijper CF; Dik P; Klijn AJ; de Mooij KL; de Jong TP
[Ad] Endereço:Department of Pediatric Urology, University Children's Hospital AMC/EKZ, Amsterdam, The Netherlands; Department of Pediatric Urology, UMC/WKZ, Utrecht, The Netherlands. Electronic address: r.chrzan@amc.nl.
[Ti] Título:Short-term Complications After Pyeloplasty in Children With Lower Urinary Tract Anomalies.
[So] Source:Urology;100:198-202, 2017 Feb.
[Is] ISSN:1527-9995
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To investigate whether children with lower urinary tract (LUT) anomalies are at greater risk for postoperative complications after laparoscopic pyeloplasty stented with a double-J catheter (JJC). MATERIALS AND METHODS: Prospectively collected data of laparoscopic pyeloplasty (LP) performed between 2006 and 2015 were analyzed. Inclusion criteria are (1) toilet-trained child and (2) unilateral dismembered pyeloplasty stented with a JJC done by the same surgeon. Our pyeloplasty protocol includes cystoscopy and retrograde pyelography. JJC is left in for 3weeks. Asymptomatic patients with infravesical LUT anomalies (a-LUTA) and those with history of LUT symptoms (LUTS) were identified. Any short-term complication was classified according to Clavien-Dindo. Fisher's exact test was used for statistical analysis. RESULTS: Fifty-four children (mean 9.8 years) were included. Ten of 54 patients had LUTS. In 4 of those 10, anatomical infravesical anomaly was found during cystoscopy. Accidental urethral anomaly was found in 11 patients (a-LUTA). The control group (CG) consisted of 33 patients. Postoperative hospital stay ranged from 1 to 8 days (mean 2 days). Overall complication rate was 8 of 54 (14%). Grade 1 complications occurred in 3 patients in the CG. Five patients had grade 3 complications (2 needed replacement of bladder catheter, and 3 had diversion of the upper tract). Those problems occurred in 1 of 10 patients with LUTS and 3 of 11 patients with a-LUTA compared to 1 of 33 in the CG. This difference was statistically significant (P < .05). CONCLUSION: Careful history should be taken in toilet-trained children before pyeloplasty. If any infravesical abnormality is discovered, internal diversion should probably be avoided. Special attention must be paid to bladder function in the postoperative period.
[Mh] Termos MeSH primário: Pelve Renal/cirurgia
Laparoscopia/efeitos adversos
Complicações Pós-Operatórias/epidemiologia
Procedimentos Cirúrgicos Reconstrutivos/efeitos adversos
Obstrução Ureteral/cirurgia
Anormalidades Urogenitais/cirurgia
[Mh] Termos MeSH secundário: Doenças Assintomáticas
Criança
Cistoscopia
Feminino
Seres Humanos
Sintomas do Trato Urinário Inferior/etiologia
Sintomas do Trato Urinário Inferior/cirurgia
Masculino
Stents
Obstrução Ureteral/etiologia
Urografia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180309
[Lr] Data última revisão:
180309
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161025
[St] Status:MEDLINE


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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]:28468208
[Au] Autor:Sisti A; Freda N; Giacomina A; Gatti GL
[Ad] Endereço:Plastic and Reconstructive Surgery, Santa Chiara Hospital, Pisa, Italy.
[Ti] Título:Popliteal Pterygium Syndrome With Syngnathia.
[So] Source:J Craniofac Surg;28(3):e250-e251, 2017 May.
[Is] ISSN:1536-3732
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Popliteal pterygium syndrome is a condition characterized by skin webs on the popliteal fossa, which may impair mobility unless surgically repaired. Affected individuals may also have syndactyly on the fingers and/or toes. Most people with this disorder present cleft lip and cleft palate and they can have syngnathia, that is a congenital adhesion between maxilla and mandible by fibrous bands, which affects the opening of the mouth. The case that we report is about a 2-month-old male, who presented skin webs bilaterally on the popliteal fossa, syndactyly between the IV and the V toe of the right foot and between the III and the IV toe of the left foot, and genital malformations. He was born with complete bilateral cleft lip and complete cleft palate on the left side and incomplete cleft palate on the right side and syngnathia with 4 fibrous bands between the mandibular arch and the maxilla arch on the right side, which affected the opening of the mouth. The case of our patient is very interesting because there have been few reported patients affected by popliteal pterygium syndrome with syngnathia.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/diagnóstico
Fenda Labial/diagnóstico
Fissura Palatina/diagnóstico
Anormalidades do Olho/diagnóstico
Dedos/anormalidades
Articulação do Joelho/anormalidades
Deformidades Congênitas das Extremidades Inferiores/diagnóstico
Mandíbula/anormalidades
Maxila/anormalidades
Sindactilia/diagnóstico
Anormalidades Urogenitais/diagnóstico
[Mh] Termos MeSH secundário: Seres Humanos
Lactente
Masculino
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180202
[Lr] Data última revisão:
180202
[Sb] Subgrupo de revista:D
[Da] Data de entrada para processamento:170505
[St] Status:MEDLINE
[do] DOI:10.1097/SCS.0000000000003473


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[PMID]:29297614
[Au] Autor:Ludwin A
[Ad] Endereço:Department of Gynecology and Oncology, Jagiellonian University, Krakow, Poland.
[Ti] Título:Re: Outcome of assisted reproduction in women with congenital uterine anomalies: a prospective observational study. M. Prior, A. Richardson, S. Asif, L. Polanski, M. Parris-Larkin, J. Chandler, L. Fogg, P. Jassal, J. G. Thornton, N. J. Raine-Fenning. Ultrasound Obstet Gynecol 2018; 51: 110-117.
[So] Source:Ultrasound Obstet Gynecol;51(1):22-23, 2018 01.
[Is] ISSN:1469-0705
[Cp] País de publicação:England
[La] Idioma:eng
[Mh] Termos MeSH primário: Anormalidades Urogenitais
Útero
[Mh] Termos MeSH secundário: Feminino
Seres Humanos
Estudos Prospectivos
Útero/anormalidades
[Pt] Tipo de publicação:JOURNAL ARTICLE; COMMENT
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180123
[Lr] Data última revisão:
180123
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180104
[St] Status:MEDLINE
[do] DOI:10.1002/uog.18971


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[PMID]:29266078
[Au] Autor:Committee on Adolescent Health Care
[Ti] Título:ACOG Committee Opinion No. 728: Müllerian Agenesis: Diagnosis, Management, And Treatment.
[So] Source:Obstet Gynecol;131(1):e35-e42, 2018 01.
[Is] ISSN:1873-233X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Müllerian agenesis, also referred to as müllerian aplasia, Mayer-Rokitansky-Küster-Hauser syndrome, or vaginal agenesis, has an incidence of 1 per 4,500-5,000 females. Müllerian agenesis is caused by embryologic underdevelopment of the müllerian duct, with resultant agenesis or atresia of the vagina, uterus, or both. Patients with müllerian agenesis usually are identified when they are evaluated for primary amenorrhea with otherwise typical growth and pubertal development. The most important steps in the effective management of müllerian agenesis are correct diagnosis of the underlying condition, evaluation for associated congenital anomalies, and psychosocial counseling in addition to treatment or intervention to address the functional effects of genital anomalies. The psychologic effect of the diagnosis of müllerian agenesis should not be underestimated. All patients with müllerian agenesis should be offered counseling and encouraged to connect with peer support groups. Future options for having children should be addressed with patients: options include adoption and gestational surrogacy. Assisted reproductive techniques with use of a gestational carrier (surrogate) have been shown to be successful for women with müllerian agenesis. Nonsurgical vaginal elongation by dilation should be the first-line approach. When well-counseled and emotionally prepared, almost all patients (90-96%) will be able to achieve anatomic and functional success by primary vaginal dilation. In cases in which surgical intervention is required, referrals to centers with expertise in this area should be considered because few surgeons have extensive experience in construction of the neovagina and surgery by a trained surgeon offers the best opportunity for a successful result.
[Mh] Termos MeSH primário: Transtornos 46, XX do Desenvolvimento Sexual/diagnóstico
Transtornos 46, XX do Desenvolvimento Sexual/cirurgia
Anormalidades Congênitas/diagnóstico
Anormalidades Congênitas/cirurgia
Ductos Paramesonéfricos/anormalidades
Guias de Prática Clínica como Assunto
Procedimentos Cirúrgicos Reconstrutivos/métodos
[Mh] Termos MeSH secundário: Transtornos 46, XX do Desenvolvimento Sexual/psicologia
Comitês Consultivos
Anormalidades Congênitas/psicologia
Feminino
Procedimentos Cirúrgicos em Ginecologia/métodos
Seres Humanos
Recém-Nascido
Ductos Paramesonéfricos/cirurgia
Qualidade de Vida
Medição de Risco
Resultado do Tratamento
Estados Unidos
Anormalidades Urogenitais/diagnóstico
Anormalidades Urogenitais/cirurgia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180116
[Lr] Data última revisão:
180116
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171222
[St] Status:MEDLINE
[do] DOI:10.1097/AOG.0000000000002458


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[PMID]:29266072
[Ti] Título:ACOG Committee Opinion No. 728 Summary: Müllerian Agenesis: Diagnosis, Management, And Treatment.
[So] Source:Obstet Gynecol;131(1):196-197, 2018 Jan.
[Is] ISSN:1873-233X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Müllerian agenesis, also referred to as müllerian aplasia, Mayer-Rokitansky-Küster-Hauser syndrome, or vaginal agenesis, has an incidence of 1 per 4,500-5,000 females. Müllerian agenesis is cau0073ed by embryologic underdevelopment of the müllerian duct, with resultant agenesis or atresia of the vagina, uterus, or both. Patients with müllerian agenesis usually are identified when they are evaluated for primary amenorrhea with otherwise typical growth and pubertal development. The most important steps in the effective management of müllerian agenesis are correct diagnosis of the underlying condition, evaluation for associated congenital anomalies, and psychosocial counseling in addition to treatment or intervention to address the functional effects of genital anomalies. The psychologic effect of the diagnosis of müllerian agenesis should not be underestimated. All patients with müllerian agenesis should be offered counseling and encouraged to connect with peer support groups. Future options for having children should be addressed with patients: options include adoption and gestational surrogacy. Assisted reproductive techniques with use of a gestational carrier (surrogate) have been shown to be successful for women with müllerian agenesis. Nonsurgical vaginal elongation by dilation should be the first-line approach. When well-counseled and emotionally prepared, almost all patients (90-96%) will be able to achieve anatomic and functional success by primary vaginal dilation. In cases in which surgical intervention is required, referrals to centers with expertise in this area should be considered because few surgeons have extensive experience in construction of the neovagina and surgery by a trained surgeon offers the best opportunity for a successful result.
[Mh] Termos MeSH primário: Transtornos 46, XX do Desenvolvimento Sexual/diagnóstico
Transtornos 46, XX do Desenvolvimento Sexual/cirurgia
Anormalidades Congênitas/diagnóstico
Anormalidades Congênitas/cirurgia
Ductos Paramesonéfricos/anormalidades
Guias de Prática Clínica como Assunto
Procedimentos Cirúrgicos Reconstrutivos/métodos
[Mh] Termos MeSH secundário: Comitês Consultivos
Feminino
Seres Humanos
Ductos Paramesonéfricos/cirurgia
Gravidez
Qualidade de Vida
Resultado do Tratamento
Estados Unidos
Anormalidades Urogenitais/diagnóstico
Anormalidades Urogenitais/terapia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180108
[Lr] Data última revisão:
180108
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171222
[St] Status:MEDLINE
[do] DOI:10.1097/AOG.0000000000002452


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[PMID]:28224805
[Au] Autor:Lisková P; Dudáková L; Diblík P
[Ti] Título:[Blepharophimosis-ptosis-epicanthus inversus syndrome].
[Ti] Título:Syndrom blefarofimóza-ptóza-inverzní epikantus..
[So] Source:Cesk Slov Oftalmol;72(5):187-190, 2016.
[Is] ISSN:1211-9059
[Cp] País de publicação:Czech Republic
[La] Idioma:cze
[Ab] Resumo:PURPOSE: To report the ocular phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). METHODS: Ophthalmological examination of a 36 year-old proband and detailed family history evaluation, including assessment of available facial photographs of affected relatives, was performed. RESULTS: There were four affected males and one female in three generations. The proband underwent two surgical eyelid procedures in childhood. Upon our examination, he had symmetrical ptosis with shorter eye lids, and incomplete medial canthal closure. The skin in the inner canthi was scarred, and the medial lower lids slightly everted, leading to malapposition of lacrimal punctae. There was no epicanthus inversus, however it was impossible to determine the status prior to the eyelid surgeries. The best corrected visual acuity was 0.66 and 0.33, in the right and left eye, respectively. The rest of the ocular examination was normal. There was no strabismus. Based on inspection of photographs taken prior to eyelid surgeries, the typical signs of BPES were also present in a son and a nephew of the proband. Photographs of the affected brother were not available, but family history indicated that he had BPES and underwent in his childhood two eye lid surgeries. Atypical ocular phenotype of the probands mother has been published previously. CONCLUSIONS: Ophthalmologists need to be aware about the phenotype of BPES, with the potential for visual impairment, and the need for personalized management in the affected families.Key words: blepharophimosis-ptosis-epicanthus inversus, phenotype, FOXL2.
[Mh] Termos MeSH primário: Blefarofimose/genética
Anormalidades da Pele/genética
Anormalidades Urogenitais/genética
[Mh] Termos MeSH secundário: Adulto
Blefarofimose/diagnóstico
Blefarofimose/cirurgia
Blefaroplastia
Pálpebras/cirurgia
Feminino
Seres Humanos
Masculino
Linhagem
Fenótipo
Anormalidades da Pele/diagnóstico
Anormalidades da Pele/cirurgia
Síndrome
Anormalidades Urogenitais/diagnóstico
Anormalidades Urogenitais/cirurgia
Transtornos da Visão/diagnóstico
Transtornos da Visão/genética
Transtornos da Visão/cirurgia
Acuidade Visual/fisiologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171128
[Lr] Data última revisão:
171128
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170223
[St] Status:MEDLINE


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[PMID]:29100091
[Au] Autor:De Tomasi L; David P; Humbert C; Silbermann F; Arrondel C; Tores F; Fouquet S; Desgrange A; Niel O; Bole-Feysot C; Nitschké P; Roume J; Cordier MP; Pietrement C; Isidor B; Khau Van Kien P; Gonzales M; Saint-Frison MH; Martinovic J; Novo R; Piard J; Cabrol C; Verma IC; Puri R; Journel H; Aziza J; Gavard L; Said-Menthon MH; Heidet L; Saunier S; Jeanpierre C
[Ad] Endereço:Laboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Imagine Institute, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France; Paris Diderot University, 75013 Paris, France.
[Ti] Título:Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
[So] Source:Am J Hum Genet;101(5):803-814, 2017 Nov 02.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Congenital anomalies of the kidney and urinary tract (CAKUT) constitute a major cause of chronic kidney disease in children and 20% of prenatally detected anomalies. CAKUT encompass a spectrum of developmental kidney defects, including renal agenesis, hypoplasia, and cystic and non-cystic dysplasia. More than 50 genes have been reported as mutated in CAKUT-affected case subjects. However, the pathophysiological mechanisms leading to bilateral kidney agenesis (BKA) remain largely elusive. Whole-exome or targeted exome sequencing of 183 unrelated familial and/or severe CAKUT-affected case subjects, including 54 fetuses with BKA, led to the identification of 16 heterozygous variants in GREB1L (growth regulation by estrogen in breast cancer 1-like), a gene reported as a target of retinoic acid signaling. Four loss-of-function and 12 damaging missense variants, 14 being absent from GnomAD, were identified. Twelve of them were present in familial or simplex BKA-affected case subjects. Female BKA-affected fetuses also displayed uterus agenesis. We demonstrated a significant association between GREB1L variants and BKA. By in situ hybridization, we showed expression of Greb1l in the nephrogenic zone in developing mouse kidney. We generated a Greb1l knock-out mouse model by CRISPR-Cas9. Analysis at E13.5 revealed lack of kidneys and genital tract anomalies in male and female Greb1l embryos and a slight decrease in ureteric bud branching in Greb1l embryos. We showed that Greb1l invalidation in mIMCD3 cells affected tubulomorphogenesis in 3D-collagen culture, a phenotype rescued by expression of the wild-type human protein. This demonstrates that GREB1L plays a major role in early metanephros and genital development in mice and humans.
[Mh] Termos MeSH primário: Anormalidades Congênitas/genética
Nefropatias/congênito
Rim/anormalidades
Mutação/genética
Proteínas de Neoplasias/genética
Proteínas/genética
[Mh] Termos MeSH secundário: Animais
Criança
Exoma/genética
Feminino
Feto/anormalidades
Heterozigoto
Seres Humanos
Nefropatias/genética
Masculino
Camundongos
Camundongos Endogâmicos C57BL
Camundongos Knockout
Fenótipo
Sistema Urinário/anormalidades
Anormalidades Urogenitais/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (GREB1 protein, human); 0 (KIAA0575 protein, mouse); 0 (Neoplasm Proteins); 0 (Proteins)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171117
[Lr] Data última revisão:
171117
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171104
[St] Status:MEDLINE


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[PMID]:29100090
[Au] Autor:Sanna-Cherchi S; Khan K; Westland R; Krithivasan P; Fievet L; Rasouly HM; Ionita-Laza I; Capone VP; Fasel DA; Kiryluk K; Kamalakaran S; Bodria M; Otto EA; Sampson MG; Gillies CE; Vega-Warner V; Vukojevic K; Pediaditakis I; Makar GS; Mitrotti A; Verbitsky M; Martino J; Liu Q; Na YJ; Goj V; Ardissino G; Gigante M; Gesualdo L; Janezcko M; Zaniew M; Mendelsohn CL; Shril S; Hildebrandt F; van Wijk JAE; Arapovic A; Saraga M; Allegri L; Izzi C; Scolari F; Tasic V; Ghiggeri GM; Latos-Bielenska A; Materna-Kiryluk A; Mane S; Goldstein DB; Lifton RP; Katsanis N; Davis EE; Gharavi AG
[Ad] Endereço:Division of Nephrology, Columbia University, New York, NY 10032, USA. Electronic address: ss2517@cumc.columbia.edu.
[Ti] Título:Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
[So] Source:Am J Hum Genet;101(5):789-802, 2017 Nov 02.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney disease and are highly genetically heterogeneous. We conducted whole-exome sequencing in 202 case subjects with RHD and identified diagnostic mutations in genes known to be associated with RHD in 7/202 case subjects. In an additional affected individual with RHD and a congenital heart defect, we found a homozygous loss-of-function (LOF) variant in SLIT3, recapitulating phenotypes reported with Slit3 inactivation in the mouse. To identify genes associated with RHD, we performed an exome-wide association study with 195 unresolved case subjects and 6,905 control subjects. The top signal resided in GREB1L, a gene implicated previously in Hoxb1 and Shha signaling in zebrafish. The significance of the association, which was p = 2.0 × 10 for novel LOF, increased to p = 4.1 × 10 for LOF and deleterious missense variants combined, and augmented further after accounting for segregation and de novo inheritance of rare variants (joint p = 2.3 × 10 ). Finally, CRISPR/Cas9 disruption or knockdown of greb1l in zebrafish caused specific pronephric defects, which were rescued by wild-type human GREB1L mRNA, but not mRNA containing alleles identified in case subjects. Together, our study provides insight into the genetic landscape of kidney malformations in humans, presents multiple candidates, and identifies SLIT3 and GREB1L as genes implicated in the pathogenesis of RHD.
[Mh] Termos MeSH primário: Anormalidades Congênitas/genética
Exoma/genética
Nefropatias/congênito
Rim/anormalidades
Mutação/genética
Proteínas de Neoplasias/genética
[Mh] Termos MeSH secundário: Alelos
Animais
Estudos de Casos e Controles
Repetições Palindrômicas Curtas Agrupadas e Regularmente Espaçadas/genética
Feminino
Heterogeneidade Genética
Estudo de Associação Genômica Ampla/métodos
Genótipo
Hereditariedade/genética
Homozigoto
Seres Humanos
Nefropatias/genética
Masculino
Proteínas de Membrana/genética
Camundongos
Fenótipo
RNA Longo não Codificante/genética
Sistema Urinário/anormalidades
Anormalidades Urogenitais/genética
Peixe-Zebra
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (GREB1 protein, human); 0 (Membrane Proteins); 0 (Neoplasm Proteins); 0 (RNA, Long Noncoding)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171121
[Lr] Data última revisão:
171121
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171104
[St] Status:MEDLINE


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[PMID]:28863937
[Au] Autor:Arendt LH; Lindhard MS; Henriksen TB; Forman A; Olsen J; Ramlau-Hansen CH
[Ad] Endereço:Department of Public Health, Section for Epidemiology, Aarhus University, Aarhus, Denmark; Perinatal Epidemiology Research Unit, Department of Child and Adolescent Health, Aarhus University Hospital, Aarhus, Denmark. Electronic address: lha@ph.au.dk.
[Ti] Título:Maternal endometriosis and genital malformations in boys: a Danish register-based study.
[So] Source:Fertil Steril;108(4):687-693, 2017 Oct.
[Is] ISSN:1556-5653
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To investigate the association between maternal endometriosis and occurrence of the genital anomalies cryptorchidism and hypospadias in sons. DESIGN: Population-based cohort study. SETTING: Not applicable. PATIENT(S): All live-born singleton boys born from 1978 to 2012. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Cryptorchidism and hypospadias in boys based on information from the Danish National Patient Register. RESULT(S): The study included 1,073,026 live-born singleton boys. A total of 6,443 boys were sons of women diagnosed with endometriosis before pregnancy. Altogether, 27,342 boys were diagnosed with cryptorchidism, of whom 16,446 had corrective surgery. Hypospadias was diagnosed in 4,853 boys. As compared with unexposed boys, a tendency towards a slightly higher occurrence of cryptorchidism was observed among boys of women with endometriosis (adjusted hazard ratio [aHR] 1.18; 95% confidence interval [CI], 0.97, 1.44). When stratified by medically assisted reproduction (MAR) technologies, the association was slightly stronger among boys born to women with endometriosis who had conceived via MAR, yet it remained moderate and statistically insignificant (aHR 1.27; 95% CI, 0.97, 1.70). When women who conceived with MAR were excluded, the association between endometriosis and cryptorchidism disappeared. For hypospadias, we observed no association, either in the main analysis or the stratified analysis. CONCLUSION(S): The findings from this register-based study do not provide strong evidence for a higher occurrence of the studied genital anomalies among boys of women with endometriosis.
[Mh] Termos MeSH primário: Criptorquidismo/epidemiologia
Endometriose/epidemiologia
Hipospadia/epidemiologia
Complicações na Gravidez/epidemiologia
Anormalidades Urogenitais/epidemiologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Pré-Escolar
Estudos de Coortes
Criptorquidismo/etiologia
Dinamarca/epidemiologia
Endometriose/complicações
Feminino
Seres Humanos
Hipospadia/etiologia
Recém-Nascido
Masculino
Gravidez
Efeitos Tardios da Exposição Pré-Natal/epidemiologia
Sistema de Registros
Fatores de Risco
Fatores Sexuais
Anormalidades Urogenitais/etiologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171013
[Lr] Data última revisão:
171013
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170903
[St] Status:MEDLINE



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