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1.
Am J Hum Genet ; 108(2): 337-345, 2021 02 04.
Artigo em Inglês | MEDLINE | ID: mdl-33434492

RESUMO

Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is associated with congenital absence of the uterus, cervix, and the upper part of the vagina; it is a sex-limited trait. Disrupted development of the Müllerian ducts (MD)/Wölffian ducts (WD) through multifactorial mechanisms has been proposed to underlie MRKHS. In this study, exome sequencing (ES) was performed on a Chinese discovery cohort (442 affected subjects and 941 female control subjects) and a replication MRKHS cohort (150 affected subjects of mixed ethnicity from North America, South America, and Europe). Phenotypic follow-up of the female reproductive system was performed on an additional cohort of PAX8-associated congenital hypothyroidism (CH) (n = 5, Chinese). By analyzing 19 candidate genes essential for MD/WD development, we identified 12 likely gene-disrupting (LGD) variants in 7 genes: PAX8 (n = 4), BMP4 (n = 2), BMP7 (n = 2), TBX6 (n = 1), HOXA10 (n = 1), EMX2 (n = 1), and WNT9B (n = 1), while LGD variants in these genes were not detected in control samples (p = 1.27E-06). Interestingly, a sex-limited penetrance with paternal inheritance was observed in multiple families. One additional PAX8 LGD variant from the replication cohort and two missense variants from both cohorts were revealed to cause loss-of-function of the protein. From the PAX8-associated CH cohort, we identified one individual presenting a syndromic condition characterized by CH and MRKHS (CH-MRKHS). Our study demonstrates the comprehensive utilization of knowledge from developmental biology toward elucidating genetic perturbations, i.e., rare pathogenic alleles involving the same loci, contributing to human birth defects.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual/genética , Anormalidades Congênitas/genética , Ductos Paramesonéfricos/anormalidades , Ductos Paramesonéfricos/crescimento & desenvolvimento , Mutação , Ductos Mesonéfricos/crescimento & desenvolvimento , Adulto , Proteína Morfogenética Óssea 4/genética , Proteína Morfogenética Óssea 7/genética , Códon sem Sentido , Feminino , Estudos de Associação Genética , Pleiotropia Genética , Proteínas Homeobox A10/genética , Proteínas de Homeodomínio/genética , Humanos , Fator de Transcrição PAX8/genética , Herança Paterna , Penetrância , Proteínas com Domínio T/genética , Fatores de Transcrição/genética , Proteínas Wnt/genética , Ductos Mesonéfricos/anormalidades
2.
Clín. investig. ginecol. obstet. (Ed. impr.) ; 47(2): 75-77, abr.-jun. 2020. ilus
Artigo em Espanhol | IBECS | ID: ibc-193715

RESUMO

El síndrome de Herlyn-Werner-Wünderlich es una anomalía congénita rara del tracto urogenital que afecta a los conductos de Müller y de Wolff con la tríada útero didelfo, obstrucción de hemivagina y agenesia renal ipsilateral. Las pacientes suelen estar asintomáticas hasta la menarquía, y a partir de entonces la clínica dependerá del grado de obstrucción vaginal, apareciendo frecuentemente masa y dolor pélvico. El diagnóstico suele ser radiológico, siendo de elección la resonancia de abdomen y pelvis que nos confirmará las alteraciones genitourinarias en su totalidad, y el tratamiento es quirúrgico con resección del tabique y drenaje de la vagina obstruida


Herlyn-Werner-Wünderlich syndrome is a rare congenital anomaly of the urogenital tract affecting the Müller and Wolff ducts with the uterus didelphys triad, hemivagina obstruction and ipsilateral renal agenesis. Patients are usually asymptomatic until menarche and thereafter the clinical practice will depend on the degree of vaginal obstruction, with frequently appearing mass and pelvic pain. The diagnosis is usually radiological, with the resonance of abdomen and pelvis chosen that will confirm us the genitourinary alterations in its totality and the treatment is surgical with resection of the septum and drainage of the obstructed vagina


Assuntos
Humanos , Feminino , Adolescente , Anormalidades Urogenitais/diagnóstico por imagem , Anormalidades Urogenitais/cirurgia , Dismenorreia/etiologia , Anormalidades Congênitas/diagnóstico , Ductos Paramesonéfricos/patologia , Ductos Mesonéfricos/anormalidades , Ductos Mesonéfricos/patologia , Hematocolpia/diagnóstico por imagem , Dor Abdominal/etiologia , Síndrome
3.
Arch Ital Urol Androl ; 91(1): 58-59, 2019 Mar 29.
Artigo em Inglês | MEDLINE | ID: mdl-30932434

RESUMO

INTRODUCTION: Zinner syndrome is a rare developmental anomaly of the Wolffian (mesonephric) duct which is characterized by a triad of obstruction of the ejaculatory duct, the ipsilateral seminal vesicle cyst, and the ipsilateral renal agenesis. Usually is totally asymptomatic, however it can also determine symptoms such as lower urinary tract symptoms, perineal pain, ejaculatory disorders such as painful ejaculation or hematospermia, and infertility. CASE REPORT: We present a case of a 51 years old men with a 3-year history of lower urinary tract symptoms, perineal pain, obstructed defecation, recurrent urinary tract infections and infertility. CT scan showed a voluminous cystic neoformation of the left seminal vesicle, hypoplasia of the left kidney and ipsilateral ureteronephrosis. The mass was removed using laparoscopic "en block" seminal vesiculectomy with associated ipsilateral nephroureterectomy. No post-operative complications occurred. At 2-month post-operative control the patient reported an improvement of urinary and rectal symptoms.


Assuntos
Rim/cirurgia , Laparoscopia/métodos , Nefroureterectomia/métodos , Glândulas Seminais/anormalidades , Cistos/cirurgia , Seguimentos , Humanos , Infertilidade Masculina/etiologia , Rim/anormalidades , Sintomas do Trato Urinário Inferior/etiologia , Masculino , Pessoa de Meia-Idade , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Glândulas Seminais/cirurgia , Síndrome , Tomografia Computadorizada por Raios X , Infecções Urinárias/etiologia , Ductos Mesonéfricos/anormalidades
4.
J Pediatr Urol ; 15(1): 46.e1-46.e6, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30446299

RESUMO

INTRODUCTION: Renal agenesis and multicystic dysplastic kidney (MCDK) are usually associated with either an absent or atretic ureter. Occasionally, these renal anomalies may be associated with a dilated tortuous ureter, ureterocele or other cystic malformation of mesonephric duct (MND) remnants. OBJECTIVES: The objective of this study was to identify and classify anatomical variants of tubulocystic remnants of the MND, with a secondary focus on natural history and management outcomes. PATIENTS AND METHODS: A retrospective cohort study of patients seen in the study institution between 2007 and 2014 with a tubulocystic abnormality of MND structures associated with either MCDK or renal agenesis was conducted. Medical imaging and progress notes were reviewed for all patients. Data collected included anatomical information, surgical intervention, histology and outcomes of both conservatively managed and surgically resected MND remnant structures. RESULTS: Nineteen patients were identified, 5 girls and 14 boys. Median age at presentation was 4.6 years. Anomalies of the MND occurred on the left in 9 patients and on the right in 10 patients. Mean follow-up was 3.4 years. Patients fell into 3 distinct anatomical groups: Type I, including orthotopic remnants corresponding to ureteric bud structures (ureter and trigone); Type II, including ectopic MND remnants of ureteric bud structures, and Type III, including complex remnants corresponding to MND structures other than those from ureteric bud (vas, epididymis and seminal vesicles). Anomalies of structures arising from urogenital sinus and paramesonephric ducts were also identified. Most patients were asymptomatic and successfully managed conservatively. Transvesical puncture of trigonal cysts provided effective decompression in 5 patients. Partial or complete MCDK regression was seen in 7 patients, whereas MND cystic anomalies did not regress spontaneously. DISCUSSION: When MND tubulocystic structures persist along with renal agenesis or MCDK, most arise from ureteric bud structures in an orthotopic position as a ureterocele with or without a blind-ending ureter-like structure. Less commonly, ureteric bud structures insert ectopically into the urogenital tract, or tubulocystic structures arising from the remainder of the MND occur. Embryogenesis of other urogenital structures may also be abnormal, and conditions such as Zinner syndrome and obstructed hemivagina and ipsilateral renal agenesis syndrome should be considered. CONCLUSIONS: Complications are uncommon, and surgical intervention should be limited to symptomatic patients. Remnants of metanephric blastema may involute, but MND remnants persist.


Assuntos
Anormalidades Múltiplas , Rim/anormalidades , Rim Displásico Multicístico/complicações , Ductos Mesonéfricos/anormalidades , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/cirurgia , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Rim/cirurgia , Masculino , Rim Displásico Multicístico/cirurgia , Estudos Retrospectivos , Resultado do Tratamento , Ductos Mesonéfricos/cirurgia
6.
J Am Soc Nephrol ; 29(3): 775-783, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29326158

RESUMO

The epithelial Wolffian duct (WD) inserts into the cloaca (primitive bladder) before metanephric kidney development, thereby establishing the initial plumbing for eventual joining of the ureters and bladder. Defects in this process cause common anomalies in the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT). However, developmental, cellular, and molecular mechanisms of WD-cloaca fusion are poorly understood. Through systematic analysis of early WD tip development in mice, we discovered that a novel process of spatiotemporally regulated apoptosis in WD and cloaca was necessary for WD-cloaca fusion. Aberrant RET tyrosine kinase signaling through tyrosine (Y) 1062, to which PI3K- or ERK-activating proteins dock, or Y1015, to which PLCγ docks, has been shown to cause CAKUT-like defects. Cloacal apoptosis did not occur in RetY1062F mutants, in which WDs did not reach the cloaca, or in RetY1015F mutants, in which WD tips reached the cloaca but did not fuse. Moreover, inhibition of ERK or apoptosis prevented WD-cloaca fusion in cultures, and WD-specific genetic deletion of YAP attenuated cloacal apoptosis and WD-cloacal fusion in vivo Thus, cloacal apoptosis requires direct contact and signals from the WD tip and is necessary for WD-cloacal fusion. These findings may explain the mechanisms of many CAKUT.


Assuntos
Apoptose/genética , Cloaca/embriologia , MAP Quinases Reguladas por Sinal Extracelular/metabolismo , Proteínas Proto-Oncogênicas c-ret/genética , Anormalidades Urogenitais/genética , Ductos Mesonéfricos/embriologia , Proteínas Adaptadoras de Transdução de Sinal/genética , Animais , Proteínas de Ciclo Celular , Cloaca/anormalidades , Cloaca/metabolismo , Rim/embriologia , Sistema de Sinalização das MAP Quinases , Camundongos , Mutação , Fosfoproteínas/genética , Proteínas Proto-Oncogênicas c-ret/metabolismo , Ureter/embriologia , Ductos Mesonéfricos/anormalidades , Ductos Mesonéfricos/metabolismo
7.
Urology ; 108: e3-e5, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28684259

RESUMO

We investigate a patient with right kidney agenesis. Imaging showed the presence of a cystic mass dislocating the bladder. The specimen showed three formations: a kidney remnant, a ureter with blind-ending branch, and a cyst, from which departed another tubular structure, considered the deferential duct. The specimen was sampled. The supposed kidney was formed by cystic structures. Examination of the tubular structures disclosed smooth muscle fibers with no lumen, whereas the cyst was surrounded by fibrous and hemorrhagic walls. Collaboration among specialists allowed the diagnosis of Zinner syndrome, a congenital malformation due to an abnormal development of the Wolffian duct.


Assuntos
Anormalidades Congênitas/diagnóstico , Imuno-Histoquímica/métodos , Nefropatias/congênito , Rim/anormalidades , Imagem por Ressonância Magnética/métodos , Tomografia Computadorizada por Raios X/métodos , Ductos Mesonéfricos/anormalidades , Adulto , Anormalidades Congênitas/metabolismo , Anormalidades Congênitas/cirurgia , Humanos , Rim/metabolismo , Rim/cirurgia , Nefropatias/diagnóstico , Nefropatias/metabolismo , Nefropatias/cirurgia , Masculino , Síndrome , Procedimentos Cirúrgicos Urológicos Masculinos/métodos , Ductos Mesonéfricos/diagnóstico por imagem , Ductos Mesonéfricos/cirurgia
8.
J Minim Invasive Gynecol ; 24(3): 473-477, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28089812

RESUMO

STUDY OBJECTIVE: Gartner duct cysts (GDCs) are rare embryological remnants of the mesonephric duct with the majority of cases discovered incidentally in asymptomatic patients. The largest prior published series evaluating the surgical management of GDCs included 4 patients. The present study aimed to determine the manifestations and outcomes of surgically managed patients with GDCs with important implications for surveillance, monitoring, and management. DESIGN: A retrospective chart review (Canadian Task Force classification III). SETTING: A tertiary care center. PATIENTS: All women diagnosed with GDCs from January 1994 to April 2014 at our institution were identified. Patients were included if they underwent surgical management and had GDCs confirmed by pathology. One hundred twenty-four charts were manually reviewed, and 29 patients were included in the analysis. INTERVENTIONS: All patients underwent surgical management, which included vaginal excision or marsupialization. MEASUREMENTS AND MAIN RESULTS: A total of 29 patients met the inclusion criteria for this study. The median age of the patients included in the analysis was 36 years old. Eleven patients were asymptomatic at the time of diagnosis (37.9%). The reason for surgical intervention was not available in 9 of these patients. Surgical intervention was performed in 2 of the 11 asymptomatic patients because of an increasing size of the lesion during observation. Presenting symptoms included dyspareunia or pain with tampon placement (37.9%), pelvic pain or pressure (24.1%), pelvic mass or bulge (17.2%), and urinary incontinence (6.9%). Preoperative imaging studies were obtained in 62% of patients; ultrasound was used in 44.4%, computed tomographic scanning in 22.2%, magnetic resonance imaging in 16.7%, and multiple modalities in 16.7%. Approximately 10% were found to have other genitourinary anomalies, including a bladder cyst, urethral diverticulum, and a solitary right kidney with uterine didelphis and septate vagina. The average cyst size was 3.5 cm (±1.8 cm). Surgical excision of GDCs was performed in all except for 3 cases of marsupialization. No intraoperative complications occurred. The median follow-up was 82 months (range, 0-246 months). One patient had possible recurrence with dyspareunia and protruding tissue diagnosed 14 months postoperatively. There were no other postoperative complications in the follow-up period. CONCLUSION: GDCs are rare pelvic masses that are often asymptomatic but may present with dyspareunia, pelvic pain or pressure, pelvic mass or bulge, or urinary symptoms. Excision or marsupialization is successful in the majority of cases without significant morbidity.


Assuntos
Cistos/cirurgia , Doenças dos Genitais Femininos/cirurgia , Anormalidades Urogenitais/cirurgia , Ductos Mesonéfricos/anormalidades , Adulto , Idoso , Cistos/complicações , Dispareunia/etiologia , Feminino , Doenças dos Genitais Femininos/complicações , Doenças dos Genitais Femininos/diagnóstico por imagem , Humanos , Imagem por Ressonância Magnética , Pessoa de Meia-Idade , Dor Pélvica/etiologia , Estudos Retrospectivos , Tomografia Computadorizada por Raios X , Incontinência Urinária/etiologia , Anormalidades Urogenitais/complicações , Anormalidades Urogenitais/diagnóstico por imagem , Útero/anormalidades , Ductos Mesonéfricos/cirurgia , Adulto Jovem
9.
Jpn J Vet Res ; 64(2): 147-52, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-27506089

RESUMO

A 10-month-old female toy poodle was referred to the University of Tokyo Veterinary Medical Center with a urogenital anomaly found during sterilization. An exploratory laparotomy revealed a cyst adhering to the cervix and a unilateral renal agenesis. Histopathology and immunohistochemical analysis of the cyst was consistent with remnants of the Wolffian duct or a Gartner duct cyst. This is a rare case of a canine Gartner duct cyst with renal agenesis and uterine anomaly. We discuss the similarity of this case to that of humans and introduce a classification in the literature for these complex urogenital malformations for further clinical research into the precise diagnosis and appropriate surgical planning.


Assuntos
Cistos/veterinária , Doenças do Cão/congênito , Rim/anormalidades , Anormalidades Urogenitais/veterinária , Doenças Uterinas/veterinária , Ductos Mesonéfricos/anormalidades , Anormalidades Múltiplas/veterinária , Animais , Cistos/patologia , Cistos/cirurgia , Cães , Feminino , Histerectomia/veterinária , Nefropatias/congênito , Nefropatias/veterinária , Ovariectomia/veterinária , Anormalidades Urogenitais/patologia , Doenças Uterinas/congênito
10.
J Med Case Rep ; 10(1): 147, 2016 Jun 02.
Artigo em Inglês | MEDLINE | ID: mdl-27256294

RESUMO

BACKGROUND: In women, during embryologic development, the paired Müllerian (paramesonephric) ducts fuse distally and develop into the uterus, cervix, and upper vagina. If the Wolffian ducts persist in vestigial form, they can lead to Gartner's cysts, mainly located in the right wall of the vagina. This is one of the few studies of Gartner's cysts with a series of consecutive cases over a long period of time who were exclusively subject to clinical observation. Although Gartner's cysts are found in approximately 0.1 to 0.2% of women, controversy exists regarding the course of action to be taken. CASE PRESENTATION: We describe the cases of four women who were 38-years old, 53-years old, 37-years old, and 49-years old at their first appointment and who were of mixed ethnicity, mixed ethnicity, black, and mixed ethnicity respectively. The follow-up of these patients ranged from 2 to 17 years. In these four cases the location of the cysts was the right wall of the vagina. Transvaginal ultrasound was the test of choice for diagnostic confirmation. In the cases presented in this study, the women were asymptomatic and chose to be observed clinically. CONCLUSIONS: This is the first study reporting long-term clinical observation of these lesions. This study shows that conservative treatment can be a safe option for asymptomatic patients with vaginal Gartner's duct cysts.


Assuntos
Tratamento Conservador , Cistos/terapia , Doenças Vaginais/terapia , Ductos Mesonéfricos/anormalidades , Adulto , Doenças Assintomáticas , Cistos/diagnóstico por imagem , Feminino , Humanos , Pessoa de Meia-Idade , Ultrassonografia , Doenças Vaginais/diagnóstico por imagem , Conduta Expectante , Ductos Mesonéfricos/diagnóstico por imagem
13.
Int Braz J Urol ; 41(2): 379-81, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26005984

RESUMO

Epididymal agenesis is defined as the absence of the epididymis totally or segmentally, unilateral or bilateral, which is secondary to the Wolffian duct malformation (1). Rete testis, epididymis, vas deferens and seminal vesicle are believed to develop from Wolffian ducts.


Assuntos
Epididimo/anormalidades , Doenças dos Genitais Masculinos/etiologia , Ductos Mesonéfricos/anormalidades , Adulto , Epididimo/cirurgia , Doenças dos Genitais Masculinos/cirurgia , Humanos , Masculino , Ductos Mesonéfricos/cirurgia
14.
Abdom Imaging ; 40(7): 2667-82, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25852048

RESUMO

Herlyn-Werner-Wunderlich syndrome (HWWS) is a rare congenital anomaly of the female urogenital tract that associates Müllerian duct anomalies with mesonephric duct anomalies. The triad of uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis characterizes this syndrome. Patients generally present with non-specific symptoms after menarche. Pelvic pain, dysmenorrhea, and palpable mass due to hematocolpos or hematometra are the most common findings. Pyohematocolpos and pyosalpinx may appear as acute complications, while endometriosis and pelvic adhesions constitute potential long-term complications. When a prenatal diagnosis of unilateral renal agenesis in newborn girls is known, a gynecological imaging study should be performed to exclude uterine and vaginal abnormalities. These patients should be followed up to ensure that a timely surgical correction is performed. The diagnosis of HWWS is difficult due to the lack of specific symptoms or findings upon physical examination. An accurate imaging description of these congenital anomalies is crucial to guide patients toward surgical treatment, relieving acute complications, and preserving the normal fertility. The authors provide a pictorial review of the magnetic resonance imaging and ultrasonography findings of the HWWS with correlation to embryological, clinical, and surgical features.


Assuntos
Imagem por Ressonância Magnética , Complicações Pós-Operatórias/diagnóstico por imagem , Complicações Pós-Operatórias/patologia , Cuidados Pré-Operatórios , Anormalidades Urogenitais/diagnóstico por imagem , Anormalidades Urogenitais/patologia , Anormalidades Congênitas/diagnóstico por imagem , Anormalidades Congênitas/patologia , Anormalidades Congênitas/cirurgia , Feminino , Humanos , Rim/anormalidades , Rim/diagnóstico por imagem , Rim/patologia , Rim/cirurgia , Nefropatias/congênito , Nefropatias/diagnóstico por imagem , Nefropatias/patologia , Nefropatias/cirurgia , Ductos Paramesonéfricos/anormalidades , Ductos Paramesonéfricos/diagnóstico por imagem , Ductos Paramesonéfricos/patologia , Síndrome , Ultrassonografia , Anormalidades Urogenitais/cirurgia , Ductos Mesonéfricos/anormalidades , Ductos Mesonéfricos/diagnóstico por imagem , Ductos Mesonéfricos/patologia
15.
Int. braz. j. urol ; 41(2): 379-381, Mar-Apr/2015. graf
Artigo em Inglês | LILACS | ID: lil-748298

RESUMO

Epididymal agenesis is defined as the absence of the epididymis totally or segmentally, unilateral or bilateral, which is secondary to the Wolffian duct malformation (1). Rete testis, epididymis, vas deferens and seminal vesicle are believed to develop from Wolffian ducts.


Assuntos
Adulto , Humanos , Masculino , Epididimo/anormalidades , Doenças dos Genitais Masculinos/etiologia , Ductos Mesonéfricos/anormalidades , Epididimo/cirurgia , Doenças dos Genitais Masculinos/cirurgia , Ductos Mesonéfricos/cirurgia
16.
J Pediatr Adolesc Gynecol ; 27(6): e137-8, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24951036

RESUMO

BACKGROUND: Gartner duct cysts represent vestigial remnants of the caudal end of the mesonephric (Wolffian) ducts. They are often associated with ureteral and renal abnormalities. In most cases they are solitary, less than 2 cm in diameter. Giant Gartner duct cysts are extremely rare. CASE: We present a girl with a giant Gartner duct cyst, without notable associated abnormalities or pathology, successfully treated by surgical excision. Preoperative aspiration revealed elevated level of CA-125 in the cyst fluid, with normal serum level of the same marker. CONCLUSION: Analyzing the aspirated fluid for CA-125 may be a useful tool for evaluation of cystic lesions in this region.


Assuntos
Antígeno Ca-125/metabolismo , Cistos/diagnóstico , Doenças Vaginais/diagnóstico , Ductos Mesonéfricos/anormalidades , Criança , Cistos/metabolismo , Cistos/cirurgia , Feminino , Procedimentos Cirúrgicos em Ginecologia , Humanos , Doenças Vaginais/metabolismo , Doenças Vaginais/cirurgia , Ductos Mesonéfricos/cirurgia
18.
Proc Natl Acad Sci U S A ; 111(18): 6660-5, 2014 May 06.
Artigo em Inglês | MEDLINE | ID: mdl-24753584

RESUMO

In most organs of the body, epithelial tissues are supported by their own basement membrane and underlying stroma, the latter being regarded as a complex of amorphous cells, extracellular matrices, and soluble factors. We demonstrate here that an epithelial tube can serve as a component of stroma that supports the formation of epithelial cell sheet derived from a different origin. During development of the mesonephros in chicken embryos, the intermediate mesoderm (IMM), which contains the Wolffian duct (WD) and its associated tubules, is overlain by a sheet of epithelial cells derived from lateral plate (coelomic) mesoderm. We describe that in normal embryos, epitheliogenesis of IMM tubes and the adjacent coelomic cell sheet proceed in a coordinated manner. When the WD was surgically ablated, the overlying coelomic epithelium exhibited aberrant morphology accompanied by a punctated basement membrane. Furthermore, the WD-ablated coelomic epithelium became susceptible to latent external stress; electroporation of Rac1 resulted in epithelial-to-mesenchymal transitions (EMTs) within the coelomic epithelium. The distorted coelomic epithelium was rescued by implanting fibronectin-producing cells in place of the WD, suggesting that fibronectin provided by WD has an important role acting interepithelially. This notion was corroborated further by directly visualizing a translocation of EGFP-tagged fibronectin from fibronectin-producing to -receiving epithelia in vivo. Our findings provide a novel insight into interepithelial signaling that also might occur in adult tissues to protect against EMT and suggest a possible new target for anticancer therapeutic strategy.


Assuntos
Rim/embriologia , Ductos Mesonéfricos/embriologia , Animais , Embrião de Galinha , Desenvolvimento Embrionário/fisiologia , Transição Epitelial-Mesenquimal/fisiologia , Epitélio/embriologia , Matriz Extracelular/fisiologia , Fibronectinas/genética , Fibronectinas/metabolismo , Células HeLa , Humanos , Integrina alfa5/metabolismo , Integrina beta1/metabolismo , Rim/anormalidades , Mesoderma/embriologia , Organogênese/fisiologia , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Transdução de Sinais , Ductos Mesonéfricos/anormalidades
19.
J Reprod Med ; 59(1-2): 69-75, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24597290

RESUMO

OBJECTIVE: To analyze reproductive performance in women with genital malformations and to determine whether pregnancy outcomes are influenced by the asrenal agenesis (URA). STUDY DESIGN: This was a retrospective study of 174 patients with genitourinary malformations, with available images for reevaluation and classification and a history ofpregnancies. The main outcome measure was the reproductive performance depending on the type of uterine malformation and urinary tract anomalies. RESULTS: The lowest percentage of women who had only live births occurred in women with bicornuate unicollis uterus (28%). Considering only uterine anomalies that might be associated with URA, those cases had significantly better perinatal outcomes (72% had only living children) than those with no renal agenesis (40%). Of the total number of pregnancies (n=355), patients with URA were associated with term deliveries and living children, whereas women with uterine malformation without URA were more associated with abortions, premature births, and breech presentation. CONCLUSION: Uterine malformations are associated with a high rate of abortions, preterm births, breech presentation, and reproductive losses, but reproductive performance is significantly better for a given type of uterine malformation if it is associated with URA; that is, if the Müllerian anomaly is the consequence of mesonephric or Wolffian anomaly. Different embryological origin for the uterine malformations (mesonephric versus isolated Müllerian anomalies), the absence of 1 renal artery, and previous extrauterine surgery could be related.


Assuntos
Nefropatias/congênito , Rim/anormalidades , Complicações na Gravidez , Reprodução , Útero/anormalidades , Aborto Espontâneo/epidemiologia , Apresentação Pélvica/epidemiologia , Anormalidades Congênitas , Feminino , Humanos , Nefropatias/complicações , Ductos Paramesonéfricos/anormalidades , Gravidez , Resultado da Gravidez , Nascimento Prematuro/epidemiologia , Estudos Retrospectivos , Ductos Mesonéfricos/anormalidades
20.
Anat Rec (Hoboken) ; 296(12): 1936-42, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24142560

RESUMO

Congenital anomalies of the kidney and urinary tract occur at a frequency of 1 in 500 live births in humans. Mutant mice null for Dlg1 (Dlg1(-/-) mice), a membrane-associated guanylate kinase containing PDZ domains, exhibit various urogenital malformations, including hypoplasia of the kidney and ureter, megaureter, hydronephrosis, and aplasia of the seminal vesicle and the vagina. The common nephric duct (CND) is a distal part of the Wolffian duct between the ureteric branch and the opening to the urogenital sinus, and normally disappears by embryonic day (E) 12.5 by a downward shift of the ureteric branch. Although retardation of the disappearance of the CND is apparent during urogenital development in Dlg1(-/-) mice, its pathogenesis and prognosis are unclear. In the present study, we found a decrease in apoptotic cells in the CND epithelium in Dlg1(-/-) mice at E11.5. Cell proliferation did not change. Additionally, histological observation of the development of the ureteral orifice indicated that the CND remained at E15.5 and was widely open to the vesical lumen in Dlg1(-/-) mice, in contrast to the complete disappearance of the CND and a narrow ureteric orifice in control mice. The dilatation of the vesicoureteral junction remained at E18.5. Opening of the vesicoureteral junction is known to cause vesicoureteral reflux and subsequent megaureter and hydronephrosis. Therefore, our present observation demonstrates that lack of the Dlg1 gene induces a decrease in apoptotic epithelial cell death and the persistence of the CND, which result in a dysfunctional vesicoureteral junction and cause megaureter or hydronephrosis through vesicoureteral reflux.


Assuntos
Apoptose , Embrião de Mamíferos/patologia , Túbulos Renais/embriologia , Proteínas do Tecido Nervoso/fisiologia , Ureter/embriologia , Refluxo Vesicoureteral/patologia , Ductos Mesonéfricos/patologia , Animais , Bromodesoxiuridina , Proteína 1 Homóloga a Discs-Large , Feminino , Túbulos Renais/anormalidades , Camundongos , Camundongos Knockout , Proteínas Associadas SAP90-PSD95 , Ureter/anormalidades , Ductos Mesonéfricos/anormalidades , Ductos Mesonéfricos/embriologia
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