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1.
Urologiia ; (5): 109-111, 2019 Dec.
Artigo em Russo | MEDLINE | ID: mdl-31808642

RESUMO

In case of stricture of the lower third of ureter in patients with duplex kidney, ureteroneocystostomy or transureteroureterostomy can be used. Anastomosis of the injured ureter of the upper pole with the pelvis of the lower pole is considered nontypical. In this clinical observation, a 46-year-old patient with iatrogenic trauma of the pelvic part of the upper pole of a duplex kidney successfully undergone laparoscopic ureteropyelostomy. There were no complications; the stent was removed after 4 weeks. During the follow-up examination, the function of both kidneys was within normal range and there were no disturbances in the urine passage in the upper urinary tract. Thus, laparoscopic ureteropyelostomy provided an adequate urine passage from the duplex system kidney through the healthy ureter.


Assuntos
Rim/anormalidades , Laparoscopia/métodos , Ureter/anormalidades , Sistema Urinário/anormalidades , Humanos , Doença Iatrogênica , Rim/cirurgia , Masculino , Pessoa de Meia-Idade , Procedimentos Cirúrgicos Minimamente Invasivos , Resultado do Tratamento , Ureter/cirurgia , Sistema Urinário/cirurgia
2.
Medicine (Baltimore) ; 98(45): e17907, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31702667

RESUMO

BACKGROUND: This study will evaluate diagnostic accuracy and management outcome studies involving patients assessed with prenatal ultrasound diagnosis (PUD) for fetal renal abnormalities (FRA). METHODS: We will search the following electronic databases of MEDLINE, EMBASE, Cochrane Library, Web of Science, Springer, Cumulative Index to Nursing and Allied Health Literature, Allied and Complementary Medicine Database, Chinese Biomedical Literature Database, and China National Knowledge Infrastructure for diagnostic accuracy studies from inceptions to the present without language restrictions. Two authors will independently screen studies, collect data, and assess methodological quality.We will use RevMan V.5.3 and Stata V.12.0 software for data pooling and statistical analysis. RESULTS: In this study, we will assess sensitivity, specificity, positive likelihood ratio, negative likelihood ratio, and diagnostic odds ratio to determine the diagnostic accuracy of PUD for the treatment of patients with FRA. CONCLUSION: This study will provide latest evidence for the diagnostic accuracy of PUD for FRA. SYSTEMATIC REVIEW REGISTRATION: PROSPERO CRD42019151306.


Assuntos
Nefropatias/diagnóstico , Rim/anormalidades , Ultrassonografia Pré-Natal , Feminino , Humanos , Rim/diagnóstico por imagem , Nefropatias/congênito , Nefropatias/embriologia , Gravidez , Revisão Sistemática como Assunto
3.
Medicine (Baltimore) ; 98(48): e18165, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31770263

RESUMO

RATIONALE: Crossed renal ectopia (CRE) is a rare congenital anomaly that is frequently associated with gastrointestinal, cardiovascular, genital and bone malformations. To the best of our knowledge, only 35 cases of crossed renal ectopia involving calculi and 30 cases of CRE associated with renal carcinoma have been reported to date. PATIENT CONCERNS: Here, we present 2 cases of crossed renal ectopia. A 59-year-old woman with diabetes presented to our hospital with abdominal pain. The second patient was a 24-year-old woman who complained with abdominal pain with a duration of 1 day. DIAGNOSES: On the basis of abdominal ultrasonography, we suspected a solitary kidney both in the two patients. Combined with retrograde pyelography and 3D computed tomography, case 1 was diagnosed as an S-shaped right-to-left crossed-fused ectopic kidney with many stones in the left (normal) renal pelvis and case 2 was confirmed to have lump right-to-left crossed-fused renal ectopia with two 3-mm stones in the renal pelvis of the 2 kidneys. INTERVENTIONS: Case 1 underwent percutaneous nephrolithotomy while case 2 refused to undergo surgery and underwent conservative treatment for pain relief. OUTCOMES: Two patients have been followed up and have no stones recurrence. LESSONS: Crossed fused renal ectopia is easily misdiagnosed as a solitary kidney. CRE is so rare that the recognition of the disease needs to be improved and effective treatment should be taken timely. According to the two cases and literature review, minimally invasive surgery has become increasingly common to treat CRE with stones and carcinoma.


Assuntos
Dor Abdominal , Rim Fundido , Cálculos Renais , Rim , Nefrolitotomia Percutânea/métodos , Dor Abdominal/diagnóstico , Dor Abdominal/etiologia , Adulto , Diagnóstico Diferencial , Erros de Diagnóstico/prevenção & controle , Feminino , Rim Fundido/complicações , Rim Fundido/diagnóstico , Rim Fundido/fisiopatologia , Humanos , Rim/anormalidades , Rim/diagnóstico por imagem , Rim/cirurgia , Cálculos Renais/complicações , Cálculos Renais/diagnóstico , Cálculos Renais/fisiopatologia , Cálculos Renais/cirurgia , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios X/métodos , Resultado do Tratamento , Ultrassonografia/métodos , Urografia/métodos
4.
Eur. j. anat ; 23(6): 459-463, nov. 2019. tab, ilus
Artigo em Inglês | IBECS | ID: ibc-185089

RESUMO

Situs inversus viscerum (SIV) is a rare congenital anomaly, which is still an intriguing phenomenon to anatomists and physicians alike. A complete SIV is characterized by a left-right transposition and mirror image of all thoraco-abdominal organs and their vasculature. The present report is based on one case with complete SIV, which was observed during the routine educational dissections of cadavers in the authors' Anatomy Department. A transposition of all truncal organs and their vasculature, and several variations of arteries and veins were present. The right branch of the proper hepatic artery was replaced by an artery that emanated from the superior mesenteric artery. The latter also released the inferior mesenteric artery. Additionally, a left accessory renal artery ran anterior to the inferior caval vein and posterior to the ureter to enter the hilum of the left kidney. There was also a variation in the anterior-posterior arrangement of the hilar structures of the left kidney. Additionally, a globally enlarged heart with coronary artery by-passes, a replaced aortic valve and an aortic arch aneurysm was observed. This case report is unique, as it presents a previously unreported co-incidence of SIV and hepatic, intestinal and renal vascular anomalies. It is important for the surgeon to be aware of such variations while planning an abdominal surgery in patients with SIV


No disponible


Assuntos
Humanos , Masculino , Idoso , Situs Inversus , Ductos Biliares Intra-Hepáticos/anormalidades , Trato Gastrointestinal/anormalidades , Rim/anormalidades , Anomalias dos Vasos Coronários , Ductos Biliares Intra-Hepáticos/anatomia & histologia , Trato Gastrointestinal/anatomia & histologia , Rim/anatomia & histologia , Dissecação/métodos , Artérias Mesentéricas/anormalidades , Artérias Mesentéricas/anatomia & histologia , Cadáver , Vasos Coronários/anatomia & histologia
5.
Pan Afr Med J ; 33: 178, 2019.
Artigo em Francês | MEDLINE | ID: mdl-31565139

RESUMO

Crossed renal ectopia is a rare congenital abnormality, in which the two kidneys are located in the same side. One of the ureters, whose length is adapted to the kidney seat, crosses the median line to implant in the bladder on the opposite side. Renal fusion of the two parenchymas is common and this abnormality is most often asymptomatic and fortuitously discovered. We report the case of a 36-year old patient with no previous pathological history, presenting with crossed renal ectopia incidentally discovered after acute cholecystitis complicated by perivescicular abscess. On the basis of this observation and of the data from the literature, we here discuss the etiopathogenic, clinical, radiological and therapeutic features of this malformation.


Assuntos
Colecistite Aguda/diagnóstico por imagem , Rim/anormalidades , Ureter/anormalidades , Abscesso/diagnóstico por imagem , Adulto , Humanos , Achados Incidentais , Rim/diagnóstico por imagem , Masculino , Ureter/diagnóstico por imagem
6.
Medicine (Baltimore) ; 98(42): e17413, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31626096

RESUMO

INTRODUCTION: VACTERL association is an acronym that includes vertebral anomalies (V), anal atresia (A), cardiac defects (C), tracheoesophageal fistula (TEF) or esophageal atresia (EA), renal anomalies (R), and limb defects (L). Airway anomalies have rarely been reported with VACTERL association. PATIENT CONCERNS: A 10-month-old boy who had been diagnosed with anal atresia and received surgical corrections soon after birth consulted our institution by complaining repeated cough and fever. DIAGNOSIS: Diagnosis of VACTERL association was finally made. Bronchoscopy and chest CT with computed tomography angiography confirmed multiple airway abnormalities including bridging bronchus, airway malacia, and complete tracheal rings. INTERVENTIONS: Supplemental oxygen was provided and antibiotics was initiated. OUTCOMES: The patient resolved gradually and was discharged 10 days later. The follow-up showed the patient has remained well just with mild psychomotor retardation. CONCLUSION: Multiple airway anomalies may be seen in VACTERL association. It is worthwhile to make special note for evaluating the tracheobronchial pulmonary system by chest CT and bronchoscopy, especially patients presenting with breathing anomalies.


Assuntos
Canal Anal/anormalidades , Esôfago/anormalidades , Cardiopatias Congênitas/diagnóstico , Rim/anormalidades , Deformidades Congênitas dos Membros/diagnóstico , Coluna Vertebral/anormalidades , Traqueia/anormalidades , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/etiologia , Manuseio das Vias Aéreas/métodos , Broncoscopia , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/terapia , Humanos , Lactente , Deformidades Congênitas dos Membros/complicações , Deformidades Congênitas dos Membros/terapia , Masculino , Oxigenoterapia , Tórax/anormalidades , Tórax/diagnóstico por imagem , Tibet , Tomografia Computadorizada por Raios X
7.
Neonatal Netw ; 38(2): 98-106, 2019 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-31470372

RESUMO

BACKGROUND: VACTERL association is a sporadic, nonrandom series of congenital malformations diagnosed by the presence of three or more of the following: vertebral malformations, anal atresia, cardiac defects, tracheoesophageal fistula, renal malformations, and limb malformations. Situs inversus totalis (SIT) and esophageal malformations are rarely associated. This is the first reported case in North America of VACTERL association with SIT. IMPLICATIONS FOR PRACTICE: Respiratory distress in the term infant requires full exploration of all possible causes because the etiology may be far more complex than routinely diagnosed respiratory distress syndrome. This particular case demonstrates physical exam findings and supportive imaging that would be observed in infants with VACTERL association and with SIT, highlighting considerations when, rarely, both occur simultaneously.


Assuntos
Canal Anal/anormalidades , Esôfago/anormalidades , Cardiopatias Congênitas , Rim/anormalidades , Deformidades Congênitas dos Membros , Síndrome do Desconforto Respiratório do Recém-Nascido/diagnóstico , Situs Inversus , Coluna Vertebral/anormalidades , Traqueia/anormalidades , Assistência ao Convalescente/métodos , Canal Anal/fisiopatologia , Diagnóstico Diferencial , Esôfago/fisiopatologia , Feminino , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/fisiopatologia , Cardiopatias Congênitas/terapia , Humanos , Recém-Nascido , Rim/fisiopatologia , Deformidades Congênitas dos Membros/complicações , Deformidades Congênitas dos Membros/diagnóstico , Deformidades Congênitas dos Membros/fisiopatologia , Deformidades Congênitas dos Membros/terapia , Triagem Neonatal/métodos , Administração dos Cuidados ao Paciente/métodos , Exame Físico/métodos , Radiografia Abdominal/métodos , Radiografia Torácica/métodos , Situs Inversus/complicações , Situs Inversus/diagnóstico , Situs Inversus/fisiopatologia , Situs Inversus/terapia , Coluna Vertebral/fisiopatologia , Traqueia/fisiopatologia , Doenças do Nervo Vestibulococlear/congênito , Doenças do Nervo Vestibulococlear/diagnóstico
8.
J Pediatr Orthop ; 39(8): e608-e613, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31393300

RESUMO

BACKGROUND: Congenital abnormalities when present, according to VACTERL theory, occur nonrandomly with other congenital anomalies. This study estimates the prevalence of congenital spinal anomalies, and their concurrence with other systemic anomalies. METHODS: A retrospective cohort analysis on Health care Cost and Utilization Project's Kids Inpatient Database (KID), years 2000, 2003, 2006, 2009 was performed. ICD-9 coding identified congenital anomalies of the spine and other body systems. OUTCOME MEASURES: Overall incidence of congenital spinal abnormalities in pediatric patients, and the concurrence of spinal anomaly diagnoses with other organ system anomalies. Frequencies of congenital spine anomalies were estimated using KID hospital-and-year-adjusted weights. Poisson distribution in contingency tables tabulated concurrence of other congenital anomalies, grouped by body system. RESULTS: Of 12,039,432 patients, rates per 100,000 cases were: 9.1 hemivertebra, 4.3 Klippel-Fiel, 56.3 Chiari malformation, 52.6 tethered cord, 83.4 spina bifida, 1.2 absence of vertebra, and 6.2 diastematomyelia. Diastematomyelia had the highest concurrence of other anomalies: 70.1% of diastematomyelia patients had at least one other congenital anomaly. Next, 63.2% of hemivertebra, and 35.2% of Klippel-Fiel patients had concurrent anomalies. Of the other systems deformities cooccuring, cardiac system had the highest concurrent incidence (6.5% overall). In light of VACTERL's definition of a patient being diagnosed with at least 3 VACTERL anomalies, hemivertebra patients had the highest cooccurrence of ≥3 anomalies (31.3%). With detailed analysis of hemivertebra patients, secundum ASD (14.49%), atresia of large intestine (10.2%), renal agenesis (7.43%) frequently cooccured. CONCLUSIONS: Congenital abnormalities of the spine are associated with serious systemic anomalies that may have delayed presentations. These patients continue to be at a very high, and maybe higher than previously thought, risk for comorbidities that can cause devastating perioperative complications if not detected preoperatively, and full MRI workups should be considered in all patients with spinal abnormalities. LEVEL OF EVIDENCE: Level III.


Assuntos
Comunicação Interatrial/epidemiologia , Atresia Intestinal/epidemiologia , Anormalidades Musculoesqueléticas/epidemiologia , Defeitos do Tubo Neural/epidemiologia , Escoliose/epidemiologia , Coluna Vertebral/anormalidades , Adolescente , Criança , Pré-Escolar , Comorbidade , Anormalidades Congênitas/epidemiologia , Bases de Dados Factuais , Humanos , Incidência , Lactente , Recém-Nascido , Intestino Grosso/anormalidades , Rim/anormalidades , Nefropatias/congênito , Nefropatias/epidemiologia , Síndrome de Klippel-Feil/epidemiologia , Prevalência , Estudos Retrospectivos , Adulto Jovem
9.
Pediatr Surg Int ; 35(9): 1005-1008, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31278478

RESUMO

PURPOSE: The literature about ectopic ureters in anorectal malformations is limited. Repair of an anorectal malformation may require dissection near the normal or abnormal insertion of the ureters. Knowledge of the presence and location of ectopic ureters may prevent intraoperative injury. We aim to describe the incidence and location of ectopic ureters in patients with anorectal malformations and to characterize associated renal anomalies. METHODS: This is an IRB-approved retrospective study of patients with anorectal malformations and ectopic ureters identified in our colorectal database. RESULTS: Of 2283 patients with anorectal malformation, 79 (3.5%) had ectopic ureter(s). Of those, 29% had bilateral ectopic ureters. Nearly all (87%) of bilateral ectopic ureters occurred in females. Ectopic ureters most commonly inserted into the bladder neck (33%), vagina (15%), or urethra (13%). Renal dysfunction was noted in a high proportion of patients. The majority (59%) of ectopic ureters were associated with dysfunction of the ipsilateral kidney. Interestingly, 29% of patients with unilateral ureteral ectopia had an abnormal contralateral kidney. Only 22 patients (28%) had two normal kidneys, and 5 (6%) had documented renal failure with 2 (2.5%) requiring renal transplant. This compares to a transplant rate of 0.6% among anorectal malformation patients without ectopic ureter. CONCLUSIONS: The incidence of ectopic ureter is 3.5% among anorectal malformation patients. Cloaca and recto-bladder neck fistula are the types of anorectal malformation with higher incidence. Ureteral ectopia seems to confer an increased risk of renal failure. Identifying ectopic ureters is important for surgical planning and monitoring renal function vigilantly.


Assuntos
Malformações Anorretais/cirurgia , Ureter/anormalidades , Pré-Escolar , Bases de Dados Factuais , Feminino , Humanos , Rim/anormalidades , Masculino , Estudos Retrospectivos
10.
Cytogenet Genome Res ; 158(3): 121-125, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31315107

RESUMO

VACTERL association is defined by the occurrence of congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula with esophageal atresia, radial and renal dysplasia, and limb defects. No genetic alterations have been discovered except for some sporadic chromosomal rearrangements and gene mutations. We report a boy with VACTERL association and shawl scrotum with bifid scrotum who presented with a de novo Yq11.223q11.23 microdeletion identified by array CGH. The deletion spans 3.1 Mb and encompasses several genes in the AZFc region, frequently deleted in infertile men with severe oligozoospermia or azoospermia. Herein, we discuss the possible explanation for this unusual genotype-phenotype correlation. We suggest that the deletion of the BPY2 (previously VCY2) gene, located in the AZFc region and involved in spermatogenesis, contributed to the genesis of the phenotype. In fact, BPY2 interacts with a ubiquitin-protein ligase, involved in the SHH pathway which is known to be implicated in the genesis of VACTERL association.


Assuntos
Canal Anal/anormalidades , Deleção Cromossômica , Cromossomos Humanos Y/genética , Esôfago/anormalidades , Cardiopatias Congênitas/genética , Cardiopatias Congênitas/patologia , Rim/anormalidades , Deformidades Congênitas dos Membros/genética , Deformidades Congênitas dos Membros/patologia , Proteínas/genética , Escroto/patologia , Coluna Vertebral/anormalidades , Traqueia/anormalidades , Canal Anal/patologia , Hibridização Genômica Comparativa , Esôfago/patologia , Estudos de Associação Genética , Humanos , Lactente , Rim/patologia , Masculino , Coluna Vertebral/patologia , Traqueia/patologia , Ubiquitina-Proteína Ligases/metabolismo , Incerteza
11.
BJOG ; 126(13): 1560-1567, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31310697

RESUMO

OBJECTIVE: Risk of fetotoxicity after paracetamol exposure in the third trimester. DESIGN: Observational cohort study and retrospective case assessment. SETTING: Germany, 2008-2017. POPULATION: Pregnant women exposed to paracetamol. METHODS: Prospectively enrolled third-trimester pregnancies that had been exposed to paracetamol (604) were compared with pregnancies exposed to paracetamol in the first and/or second trimester only (1192). Exclusion criteria were exposure to nonsteroidal anti-inflammatory drugs (NSAIDs) in the second or third trimester. Additionally, the Embryotox 'adverse drug reaction in pregnancy' database was screened for cases of fetotoxicity. MAIN OUTCOME MEASURES: The prenatal study end points focused on narrowing or closure of ductus arteriosus Botalli, late fetal death, and oligohydramnios. The postnatal end points included patent ductus arteriosus (PDA), primary pulmonary hypertension (PPHT), and impaired renal function. RESULTS: In both cohorts, no fetus with intrauterine narrowing or closure of the ductus arteriosus Botalli was reported (0/604 versus 0/1192). Oligohydramnios was diagnosed at a similar frequency in both cohorts: 1.3% (8/604) versus 1.6% (19/1192). There was one stillbirth in the study cohort (1/604, 0.2%) and four stillbirths in the comparison cohort (4/1192, 0.3%). The rates of PDA in neonates were similar: 0.7% (4/615) versus 0.7% (9/1212). PPHT as well as serious postnatal renal disorders were reported once in each cohort. In 12 out of 96 retrospective cases, there were indicators for study end points; however, co-exposure to NSAIDs or complex situations weaken the assumption of paracetamol toxicity. CONCLUSIONS: Fetal cardiovascular or renal toxicity of maternal third-trimester paracetamol use appears to be negligible. TWEETABLE ABSTRACT: Paracetamol use in the third trimester does not seem to be associated with a relevant risk of fetotoxicity.


Assuntos
Acetaminofen/administração & dosagem , Analgésicos não Entorpecentes/administração & dosagem , Permeabilidade do Canal Arterial/induzido quimicamente , Nefropatias/induzido quimicamente , Rim/efeitos dos fármacos , Acetaminofen/efeitos adversos , Adulto , Analgésicos não Entorpecentes/efeitos adversos , Permeabilidade do Canal Arterial/embriologia , Feminino , Humanos , Recém-Nascido , Rim/anormalidades , Rim/embriologia , Nefropatias/embriologia , Gravidez , Terceiro Trimestre da Gravidez , Estudos Retrospectivos , Medição de Risco
12.
Urologiia ; (1): 102-104, 2019 Apr.
Artigo em Russo | MEDLINE | ID: mdl-31184026

RESUMO

In the article a rare case of structural anomaly of ureter, namely obliteration, in 1-year-old infant is reviewed. The obliteration was located in the distal part of the left ureter. There was urine leakage through dilated and inflamed wall of the ureter towards right gluteal region with a formation of retroperitoneal abscess. A diagnosis was established based on preoperative MRI and intraoperative antegrade pyeloureterography. Extravesical Lich-Gregoir ureterocystoneostomy was successfully performed.


Assuntos
Rim , Ureter , Doenças Urológicas , Humanos , Lactente , Rim/anormalidades , Rim/cirurgia , Ureter/anormalidades , Ureter/cirurgia
13.
BMC Womens Health ; 19(1): 71, 2019 05 30.
Artigo em Inglês | MEDLINE | ID: mdl-31146728

RESUMO

BACKGROUND: The unicornuate uterus is caused by abnormal or failed development of one Müllerian duct. Unicornuate uteri with functioning non-communicating rudimentary horns are susceptible to many gynaecologic and obstetric complications such as hematometra, endometriosis and ectopic pregnancy and thus surgical resection is usually recommended.. CASE PRESENTATION: We report a rare case of a unicornuate right uterus with rudimentary non-communicating (functional) cavitary left horn (class U4a) in a 17-year-old girl who was diagnosed with VACTERL association. She was presented to our centre with 3 years history of secondary sever dysmenorrhea. Pelvic magnetic resonance imaging revealed a normal uterus on the right side, a 7 × 8 cm left endometrioma, a tortuous dilated fluid-filled structure in the left hemipelvis, mostly represented left-sided hematosalpinx, and a well-defined lesion with thick enhancing wall in the left hemipelvis measuring 6.7 × 5.7 × 5.6 cm with a similar enhancement to the uterus in the right. She underwent laparotomy that showed a right unicornuate uterus with a normal cervix and a rudimentary non-communicating distended left horn. In addition, there was a left endometrioma and left hematosalpinx. Resection of the left communicating horn, left salpingectomy and left ovarian cystectomy were performed. The right tube and both ovaries were preserved. At 9-months follow up, the patient had a regular period and the pain subsided completely. CONCLUSION: We report yet the second case of VACTERL association and unicornuate uterus with non-communicating functional rudimentary horn, in hope of expanding the knowledge of a rare occurrence. This case also highlights the importance of considering the diagnosis of Müllerian duct anomalies in patients with a history of other anomalies, and/or history of early-age secondary dysmenorrhea.


Assuntos
Canal Anal/anormalidades , Esôfago/anormalidades , Cardiopatias Congênitas/cirurgia , Rim/anormalidades , Deformidades Congênitas dos Membros/cirurgia , Ductos Paramesonéfricos/anormalidades , Coluna Vertebral/anormalidades , Traqueia/anormalidades , Adolescente , Canal Anal/cirurgia , Dismenorreia/etiologia , Endometriose/etiologia , Esôfago/cirurgia , Feminino , Humanos , Rim/cirurgia , Coluna Vertebral/cirurgia , Traqueia/cirurgia
14.
Urologiia ; (2): 36-39, 2019 Jun.
Artigo em Russo | MEDLINE | ID: mdl-31162899

RESUMO

INTRODUCTION: Although horseshoe kidney (HSK) is the most common congenital anomaly of the upper urinary tract, renal cell cancer (RCC) in HSK develops extremely rarely. Until 2012 y. there were less than 200 cases of RCC in HSK published in PubMed. Only five cases of laparoscopic partial nephrectomies and some cases of heminephrectomies have been described in PubMed. AIM: To conduct a multicenter retrospective analysis of laparoscopic surgery for tumors in HSK. MATERIAL AND METHODS: From January 2013 to December 2018 a total of 19 conventional laparoscopic interventions were performed in patients with RCC in HSK, including 1 isthmusectomy, 5 partial nephrectomies and 13 heminefrectomies. In addition, 16 divisions of isthmus were done in 15 patients. The video describing our operation technique is available on: http://youtu.be/nk-WlbjNtIs . RESULTS: There were no conversions to open surgery and mortality as well as intra- and postoperative complications of Clavien grade 3 or higher. Warm ischemia time during partial nephrectomy didnt exceed 19 minutes. Operative time ranged from 110 to 270 min, while max estimated blood loss was 400 ml. All patients were followed for 6 month and no case of disease recurrence or progression was noted. CONCLUSIONS: The small number of laparoscopic interventions in patients with RCC in HSK doesnt allow to carry out a proper statistical analysis and draw certain conclusions. We presented the largest experience available in the literature and our results demonstrate the efficacy and safety of conventional laparoscopic technologies in the treatment of RCC in HSK.


Assuntos
Carcinoma de Células Renais/cirurgia , Rim Fundido/cirurgia , Neoplasias Renais/cirurgia , Rim/cirurgia , Nefrectomia/métodos , Humanos , Rim/anormalidades , Laparoscopia , Estudos Retrospectivos , Resultado do Tratamento
15.
Hum Genet ; 138(10): 1105-1115, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31230195

RESUMO

Congenital anomalies of the kidney and urinary tract (CAKUT) are the most common cause of chronic kidney disease (~ 45%) that manifests before 30 years of age. The genetic locus containing COL4A1 (13q33-34) has been implicated in vesicoureteral reflux (VUR), but mutations in COL4A1 have not been reported in CAKUT. We hypothesized that COL4A1 mutations cause CAKUT in humans. We performed whole exome sequencing (WES) in 550 families with CAKUT. As negative control cohorts we used WES sequencing data from patients with nephronophthisis (NPHP) with no genetic cause identified (n = 257) and with nephrotic syndrome (NS) due to monogenic causes (n = 100). We identified a not previously reported heterozygous missense variant in COL4A1 in three siblings with isolated VUR. When examining 549 families with CAKUT, we identified nine additional different heterozygous missense mutations in COL4A1 in 11 individuals from 11 unrelated families with CAKUT, while no COL4A1 mutations were identified in a control cohort with NPHP and only one in the cohort with NS. Most individuals (12/14) had isolated CAKUT with no extrarenal features. The predominant phenotype was VUR (9/14). There were no clinical features of the COL4A1-related disorders (e.g., HANAC syndrome, porencephaly, tortuosity of retinal arteries). Whereas COL4A1-related disorders are typically caused by glycine substitutions in the collagenous domain (84.4% of variants), only one variant in our cohort is a glycine substitution within the collagenous domain (1/10). We identified heterozygous COL4A1 mutations as a potential novel autosomal dominant cause of CAKUT that is allelic to the established COL4A1-related disorders and predominantly caused by non-glycine substitutions.


Assuntos
Colágeno Tipo IV/genética , Anormalidades Congênitas/diagnóstico , Anormalidades Congênitas/genética , Rim/anormalidades , Mutação , Fenótipo , Sistema Urinário/anormalidades , Alelos , Substituição de Aminoácidos , Biologia Computacional/métodos , Análise Mutacional de DNA , Bases de Dados Genéticas , Evolução Molecular , Feminino , Estudos de Associação Genética , Loci Gênicos , Genômica/métodos , Heterozigoto , Humanos , Doenças Renais Císticas/diagnóstico , Doenças Renais Císticas/genética , Masculino , Síndrome Nefrótica/diagnóstico , Síndrome Nefrótica/genética , Navegador , Sequenciamento Completo do Exoma
16.
Arq. bras. med. vet. zootec. (Online) ; 71(3): 833-836, May-June 2019. ilus
Artigo em Inglês | LILACS, VETINDEX | ID: biblio-1011311

RESUMO

A 3 year old female feline of mixed breed was sent to the diagnostic imaging sector under suspicion of bleeding due to ovariohysterectomy. An abdominal ultrasonography was performed to confirm the initial suspicion. However, no signs of bleeding were found, instead it was observed that the left renal silhouette had two pelvises and was elongated and larger than normal. The right kidney was not found. Excretory urography was requested to evaluate the condition of the ureters. The final diagnosis was crossed renal ectopia with fusion in an asymptomatic cat with no changes in renal function.(AU)


Uma gata, sem raça definida, com três anos de idade, foi encaminhada para o setor de diagnóstico por imagem sob suspeita de hemorragia devido à ovário-histerectomia. Foi realizada ultrasonografia abdominal para confirmar a suspeita inicial, mas nenhum sinal de hemorragia foi encontrado; visibilizou-se, entretanto, a silhueta renal esquerda alongada, com presença de duas pelves. O rim direito não foi encontrado. Solicitou-se exame de urografia excretora para avaliação de ureteres. O diagnóstico foi de ectopia renal cruzada com fusão em um felino assintomático e sem alterações na função renal.(AU)


Assuntos
Animais , Feminino , Gatos , Gatos/anormalidades , Rim Fundido/veterinária , Rim Fundido/diagnóstico por imagem , Rim/anormalidades , Urografia/veterinária , Ultrassonografia/veterinária
17.
Cytogenet Genome Res ; 158(1): 25-31, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31055587

RESUMO

Diagnosing a complex genetic syndrome and correctly assigning the concomitant phenotypic traits to a well-defined clinical form is often a medical challenge. In this work, we report the analysis of a family with complex phenotypes, including microcephaly, intellectual disability, dysmorphic features, and polydactyly in the proband, with the aim of adding new aspects for obtaining a clear diagnosis. We performed array-comparative genomic hybridization and quantitative reverse transcriptase PCR (qRT-PCR) analyses. We identified a deletion of chromosome 20p12.1 involving the macrodomain containing 2/mono-ADP ribosylhydrolase 2 gene (MACROD2) in several members of the family. This gene is actually not associated with a specific syndrome but with congenital anomalies of multiple organs. qRT-PCR showed higher levels of a MACROD2 mRNA isoform in the individuals carrying the deletion. Our results, together with other data reported in the literature, support the hypothesis that the deletion in MACROD2 can affect correct embryonic development and that the presence of another associated event, such as epigenetic modifications at the MACROD2 locus, can influence the level of severity of the pathology.


Assuntos
Anormalidades Múltiplas/genética , Enzimas Reparadoras do DNA/genética , Hidrolases/genética , Deficiência Intelectual/genética , Rim/anormalidades , Microcefalia/genética , Pâncreas/anormalidades , Polidactilia/genética , Deleção de Sequência , Adulto , Cromossomos Humanos Par 20/genética , Cromossomos Humanos Par 20/ultraestrutura , Hibridização Genômica Comparativa , Enzimas Reparadoras do DNA/deficiência , Enzimas Reparadoras do DNA/fisiologia , Desenvolvimento Embrionário/genética , Feminino , Humanos , Hidrolases/deficiência , Hidrolases/fisiologia , Masculino , Linhagem , Fenótipo , Transtornos Psicomotores/genética
18.
Obstet Gynecol Surv ; 74(5): 298-302, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31098643

RESUMO

Importance: Bilateral renal agenesis is a rare congenital anomaly associated with poor prognosis. Objective: The aims of this article are to review and summarize evidence on prenatal diagnosis and outcomes of bilateral renal agenesis. Evidence Acquisition: A search was undertaken using PubMed and ClinicalTrials.gov databases from January 1, 1998, to September 1, 2018. Search terms include "prenatal diagnosis" OR "outcomes" AND "bilateral renal agenesis." Search was limited to English language. Results: Fetal ultrasonography is the primary imaging modality for prenatal diagnosis of fetal urogenital tract abnormalities. However, ultrasonography is limited by several factors; it is operator dependent and associated with small field of view, has limited soft-tissue acoustic contrast, and is also influenced by patient habitus and fetal position. Color Doppler ultrasonography can be used as an adjunct to exclude bilateral renal agenesis by visualizing renal arteries. In the literature, prenatal magnetic resonance imaging has been reported to be equal to or superior to prenatal ultrasonography. Bilateral renal agenesis with oligohydramnios/anhydramnios is associated with a poor prognosis; perinatal death occurs secondary to pulmonary hypoplasia in the majority of cases. Conclusions: Ultrasonography in combination with color Doppler ultrasonography permits the fetal urinary tract to be assessed in the first and early second trimester of gestation. The magnetic resonance imaging can be used as a complementary adjunctive modality in equivocal or inconclusive ultrasonographic findings.


Assuntos
Anormalidades Congênitas/diagnóstico por imagem , Nefropatias/congênito , Rim/anormalidades , Ultrassonografia Doppler em Cores/métodos , Ultrassonografia Pré-Natal/métodos , Anormalidades Congênitas/mortalidade , Feminino , Humanos , Rim/diagnóstico por imagem , Nefropatias/diagnóstico por imagem , Nefropatias/mortalidade , Oligo-Hidrâmnio/diagnóstico por imagem , Gravidez
19.
BMJ Case Rep ; 12(5)2019 May 06.
Artigo em Inglês | MEDLINE | ID: mdl-31061196

RESUMO

Congenital unilateral renal agenesis is a relatively frequent condition at birth diagnosed mostly incidentally. Despite the excellent prognosis, unilateral renal agenesis is associated with an increased risk of other structural abnormalities, including genital malformations. The authors present two cases of asymptomatic adolescents with known congenital unilateral renal agenesis and associated genital malformations solely diagnosed during puberty-a man with Zinner syndrome and a female with Mayer-Rokitansky-Küster-Hauser syndrome.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual/diagnóstico por imagem , Anormalidades Congênitas/diagnóstico por imagem , Nefropatias/congênito , Rim/anormalidades , Glândulas Seminais/anormalidades , Maturidade Sexual/fisiologia , Ultrassonografia , Anormalidades Urogenitais/diagnóstico , Vagina/anormalidades , Transtornos 46, XX do Desenvolvimento Sexual/fisiopatologia , Transtornos 46, XX do Desenvolvimento Sexual/terapia , Adolescente , Criança , Feminino , Humanos , Rim/diagnóstico por imagem , Nefropatias/diagnóstico por imagem , Masculino , Salpingectomia , Glândulas Seminais/diagnóstico por imagem , Vagina/diagnóstico por imagem , Conduta Expectante
20.
Int J Infect Dis ; 85: 54-56, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31129423

RESUMO

This case report describes the clinical findings of a 22-year-old pregnant woman with confirmed Zika virus infection, at 16 weeks of gestation, in Sucre, Colombia. Her ultrasound revealed severe oligohydramnios, intrauterine growth restriction, and a complete absence of the urinary bladder of the fetus. The poor prognosis led to the decision to terminate the pregnancy. Autopsy of the fetus revealed severe bilateral renal hypoplasia.


Assuntos
Retardo do Crescimento Fetal/virologia , Rim/anormalidades , Complicações Infecciosas na Gravidez/virologia , Bexiga Urinária/anormalidades , Infecção por Zika virus/virologia , Adulto , Colômbia , Feminino , Retardo do Crescimento Fetal/diagnóstico , Humanos , Rim/virologia , Gravidez , Bexiga Urinária/virologia , Adulto Jovem , Zika virus/fisiologia
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