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1.
Ultrasound Obstet Gynecol ; 64(4): 521-527, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-39219041

RESUMO

OBJECTIVES: To introduce a two-dimensional sonographic method to assess the fetal anus, and to evaluate the feasibility of this method to diagnose anal atresia prenatally and identify the presence or absence of anoperineal fistula (in males) and anovestibular fistula (in females). METHODS: This was an observational study of suspected cases of anal atresia referred to a single center in Israel between August 2018 and October 2023. In addition to conventional evaluation of the perineum in the axial plane, fetuses referred to our center for suspected malformation were scanned with a new method termed the 'infracoccygeal/transperineal window'. This window consisted of a midsagittal view of the fetal pelvis, including the distal rectum and the anal canal. Normal anatomy was confirmed when the anal canal was continuous with the rectum and terminated at the expected location on the perineum. In female fetuses, the normal anal canal runs parallel to the vaginal canal and diverges posteriorly, terminating at the perineal skin, distant from the vestibule. In male fetuses, the normal anal canal diverges posteriorly in relation to the corpora cavernosa, terminating at the perineal skin, distant from the scrotum. High anal atresia was identified when a blind-ending rectal pouch was demonstrated in the pelvis without a fistula to the perineum or vestibule. Low anal atresia was determined when a rectal pouch was continuous with an anteriorly deflected fistula. In females, the fistula converges with the vaginal canal, terminating at the vestibule; in males, the fistula deflects anteriorly, terminating at the base of the scrotum. Postnatally, the diagnosis and type of anal atresia were confirmed through physical examination with direct visualization of the fistula, radiographic studies, surgical examination and/or postmortem autopsy. RESULTS: Of the 16 fetuses diagnosed prenatally with anal atresia, eight were suspected to have low anal atresia and eight were suspected to have high anal atresia. The median gestational age at diagnosis was 23 (range, 14-37) weeks. All cases showed additional structural malformation. Eleven patients opted for termination of pregnancy, of which four had low anal atresia and seven had high anal atresia. Postnatal confirmation was not available in four cases due to curettage-induced mutilation or in-utero degradation following selective termination of the affected twin, leaving 12 cases for analysis, of which seven were diagnosed with low anal atresia and five with high anal atresia. In these 12 cases, all prenatal diagnoses were confirmed as correct, rendering 100% sensitivity and 100% specificity in this high-risk fetal population. CONCLUSIONS: The infracoccygeal/transperineal window is an effective method to detect and classify the level of anal atresia prenatally. This may improve prediction of postnatal fetal continence and optimize prenatal counseling. © 2024 International Society of Ultrasound in Obstetrics and Gynecology.


Assuntos
Canal Anal , Anus Imperfurado , Ultrassonografia Pré-Natal , Humanos , Feminino , Gravidez , Masculino , Canal Anal/diagnóstico por imagem , Canal Anal/embriologia , Canal Anal/anormalidades , Anus Imperfurado/diagnóstico por imagem , Anus Imperfurado/embriologia , Ultrassonografia Pré-Natal/métodos , Períneo/diagnóstico por imagem , Períneo/embriologia , Estudos de Viabilidade , Idade Gestacional , Fístula Retal/diagnóstico por imagem , Fístula Retal/embriologia , Israel
2.
Am J Med Genet A ; 191(3): 730-741, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36478354

RESUMO

Urorectal septum malformation sequence (URSMS) is characterized by a spectrum of anomalies of the urogenital system, hindgut and perineum. It is presumed to be a constellation of an embryonic defect. Herein, we analyzed the clinically diverse syndromes associated with URSMS in our perinatal evaluation unit. We reviewed fetuses with URSMS in referrals for perinatal autopsy over a period of 3 years. Chromosomal microarray and genome sequencing were performed whenever feasible. Literature was reviewed for syndromes or malformations with URSMS. We ascertained URSMS in 12 of the 215 (5%) fetuses. Nine fetuses (75%) had complete URSMS and remainder had partial/intermediate URSMS. Eleven fetuses had malformations of other systems that included: cerebral ventriculomegaly; right aortic arch with double outlet right ventricle; microcephaly with fetal akinesia deformation sequence; ventricular septal defect and radial ray anomaly; thoraco-abdominoschisis and limb defects; myelomeningocele; spina bifida and fused iliac bones; omphalocele; occipital encephalocele; lower limb amelia and cleft foot. We report on six fetuses with recurrent and five fetuses with unique malformations/patterns where URSMS is a component. Exome sequencing (one family) and genome sequencing (eight families) were performed and were nondiagnostic. Additionally, we review the literature for genetic basis of this condition. URMS is a clinically heterogeneous condition and is a component of several multiple malformation syndromes. We describe several unique and recurrent malformations associated with URSMS.


Assuntos
Anormalidades Múltiplas , Anus Imperfurado , Anormalidades Urogenitais , Gravidez , Feminino , Humanos , Síndrome , Anormalidades Urogenitais/diagnóstico , Anormalidades Urogenitais/genética , Anus Imperfurado/diagnóstico , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Feto
3.
Pediatr Surg Int ; 39(1): 234, 2023 Jul 18.
Artigo em Inglês | MEDLINE | ID: mdl-37464109

RESUMO

PURPOSE: To assess the quality of life and disease-specific functioning of adults with anorectal malformations (ARM) or Hirschsprung disease (HD) compared to healthy reference scores. METHODS: Patients with the diagnosis of ARM or HD from the Adult Colorectal Research Registry completed the Short Form 36 Health Survey (SF-36), the Gastrointestinal Quality of Life Index (GIQoLI), and the Bowel Function Score (BFS) between October 2019 and August 2022. One-sample Wilcoxon test compared the results to reported healthy references with a significance level of < 0.05. RESULTS: The response rate was 67%. All three surveys were completed by 133 adults with a slight preponderance of males (51%). Median age was 31 years, 117 were born with ARM and 16 with HD. All subgroups had significantly lower BFS than healthy references. ARM patients scored significantly lower than the healthy reference population when assessed for GIQoL. All showed significant impairment with the mental component summary (MCS) of SF-36. Patients with a successful bowel management had significantly higher scores on all three questionnaires than those with fecal accidents. CONCLUSION: Our results emphasize the importance of a successful bowel management and its impact on the quality of life and bowel function. Long-term follow-up is recommended with attention to mental health.


Assuntos
Malformações Anorretais , Doença de Hirschsprung , Masculino , Humanos , Adulto , Malformações Anorretais/psicologia , Qualidade de Vida/psicologia , Defecação , Doença de Hirschsprung/diagnóstico , Inquéritos e Questionários
4.
J Indian Assoc Pediatr Surg ; 28(5): 357-368, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37842219

RESUMO

Anorectal malformations (ARMs) are managed classically in three stages - colostomy at birth, anorectal pull-through after 2-3 months, and stoma closure. Single-stage pull-through has been contemplated in neonatal age aimed to reduce the number of procedures, better long-term continence, the better psycho-social status of the child, and reduced cost of treatment, especially in resource-strained countries. We conducted a systematic review comparing neonatal single-stage pull-through with stage pull-through and did a meta-analysis for the outcome and complications. Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines were followed. PubMed and Scopus databases were searched and RevMan 5.4.1 was used for the meta-analysis. Fourteen comparative studies including one randomized controlled trial were included in the systematic review for meta-analysis. The meta-analysis included 1845 patients including 866 neonates undergoing single-stage pull-through. There was no statistically significant difference for the occurrence of surgical site infection (odds ratio [OR] 0.82, 95% confidence interval [CI]: 0.24-2.83), urinary tract injury (OR 1.82, 95% CI: 0.85-3.89), rectal prolapse (OR 0.98, 95% CI: 0.21-5.04), anal stenosis/stricture, voluntary bowel movements (OR 0.97, 95% CI: 0.25-3.73), constipation (OR 1.01, 95% CI: 0.61-1.67), soiling (OR 0.89, 95% CI: 0.52-1.51), mortality (OR 1.19, 95% CI: 0.04-39.74), or other complications. However, continence was seen to be better among patients undergoing neonatal pull-through (OR 1.63, 95% CI: 1.12-2.38). Thus, we can recommend single-stage pull-through for managing patients with ARMs in the neonatal age.

5.
Clin Genet ; 101(2): 183-189, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34671974

RESUMO

The caudal type homeobox 2 (CDX2) gene encodes a developmental regulator involved in caudal body patterning. Only three pathogenic variants in human CDX2 have been described, in patients with persistent cloaca, sirenomelia and/or renal and anogenital malformations. We identified five patients with de novo or inherited pathogenic variants in CDX2 with clinical phenotypes that partially overlap with previous cases, that is, imperforate anus and renal, urogenital and limb abnormalities. However, additional clinical features were seen including vertebral agenesis and we describe considerable phenotypic variability, even in unrelated patients with the same recurrent p.(Arg237His) variant. We propose CDX2 variants as rare genetic cause for a multiple congenital anomaly syndrome that can include features of caudal regression syndrome and VACTERL. A causative role is further substantiated by the relationship between CDX2 and other proteins encoded by genes that were previously linked to caudal abnormalities in humans, for example, TBXT (sacral agenesis and other vertebral segmentation defects) and CDX1 (anorectal malformations). Our findings confirm the essential role of CDX2 in caudal morphogenesis and formation of cloacal derivatives in humans, which to date has only been well characterized in animals.


Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Fator de Transcrição CDX2/genética , Predisposição Genética para Doença , Mutação , Fenótipo , Região Sacrococcígea/anormalidades , Alelos , Criança , Feminino , Estudos de Associação Genética , Testes Genéticos , Genótipo , Humanos , Lactente , Recém-Nascido , Masculino , Sequenciamento do Exoma
6.
Am J Med Genet A ; 188(7): 2135-2138, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35289498

RESUMO

Pathogenic variants in NOTCH2 which encodes a single-pass transmembrane protein have been identified as a cause of several autosomal dominant congenital disorders. In particular, truncating mutations in exon 34 have been found in patients with skeletal abnormalities and dysmorphic features. We describe a patient with a de novo variant in NOTCH2 who displayed features of both Hajdu-Cheney syndrome (HJCYS) and serpentine fibula-polycystic kidney syndrome (SFPKS). The recurrent nonsense variant in exon 34 has been reported in seven other patients with syndromic presentations, making it the most common pathogenic variant for NOTCH2 in congenital disorders. In addition to the core features of HJCYS and SFPKS, there was a gastrointestinal tract malformation of an imperforate anus which has not been reported in patients with pathogenic variants in NOTCH2.


Assuntos
Códon sem Sentido , Síndrome de Hajdu-Cheney , Códon sem Sentido/genética , Éxons/genética , Síndrome de Hajdu-Cheney/genética , Humanos , Mutação , Receptor Notch2/genética
7.
BMC Pediatr ; 22(1): 15, 2022 01 03.
Artigo em Inglês | MEDLINE | ID: mdl-34980064

RESUMO

BACKGROUND: The prenatal diagnosis of foetal imperforate anus is difficult. Most previous studies have been case reports. To provide useful information for diagnosing foetal imperforate anus, a retrospective review of diagnostic approaches was conducted. Ultrasonography was performed in 19 cases of foetal imperforate anus from 2016 to 2019 at our prenatal diagnostic centre. The prenatal sonographic features and outcomes of each case were collected and evaluated. RESULT: The anal sphincter of a normal foetus shows the 'target sign' on cross-sectional observation. Of the 19 cases of imperforate anus, 16 cases were diagnosed by the ultrasound image feature called the 'line sign'. 1 case with tail degeneration was low type imperforate anus with the irregular 'target sign' not a real 'target sign'. There was two false-negative case, in which the 'target sign' was found, but irregular. CONCLUSION: In this study, we find that the anus of a foetus with imperforate anus presents a 'line sign' on sonographic observation. The absence of the 'target sign' and then the presence of the 'line sign' can assist in the diagnosis of imperforate anus. The 'line sign' can be used as a secondary assessment to determine the type of the malformation following non visualization of the 'target sign'. The higher the position of the imperforate anus is, the more obvious the 'line sign'. It is worth noting that the finding of the short 'line sign' and irregularr 'target sign' can not ignore the low type imperforate anus.


Assuntos
Anus Imperfurado , Canal Anal/anormalidades , Canal Anal/diagnóstico por imagem , Anus Imperfurado/diagnóstico por imagem , Estudos Transversais , Feminino , Humanos , Gravidez , Ultrassonografia/métodos , Ultrassonografia Pré-Natal/métodos
8.
Pediatr Surg Int ; 38(12): 1717-1721, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36107235

RESUMO

PURPOSE: The aim of this study was to determine and analyze the stricture rate in patients who underwent a PSARP or PSARVUP and followed a postoperative protocol of anal dilation (Fig. 1). METHODS: A retrospective review of patients with anorectal malformation (ARM) who underwent a primary PSARP or PSARVUP from February 2016 to October 2021 was performed. Data collected included patients' demographics, type of ARM, age at the time of operation, postoperative complications, with emphasis on whether there were any strictures or any difficulties during dilations, and on follow-up. During the surgical repair, emphasis was placed on preserving the blood supply of the bowel and performing a tension-free bowel-to-skin anastomosis. RESULTS: Eighty-four patients met the inclusion criteria. Forty-four patients were females: 21 recto-perineal fistula, 12 cloaca, 9 recto-vestibular fistula, one imperforate anus without fistula, and one patient had a complex anorectal and vaginal malformation with an anal stricture and a rectovaginal fistula. Forty patients were males: 14 recto-perineal fistula, 11 recto-urethral bulbar fistula, 6 recto-urethral prostatic fistula, 6 imperforate anus without fistula, and 2 bladder neck fistula. One patient had an anal stenosis with sacral agenesis, without a presacral mass. Patient ages ranged from 0 to 79 months (mean 7.5 months, median 5 months) at the time of surgery. Follow-up time ranged from 7 to 73 months (mean 38 months, median 35 months). No patient suffered of a postoperative anal stricture. Six patients suffered of a rectal prolapse that required a surgical repair. CONCLUSION: Post-operative anal stricture after PSARP and PSARVUP can be avoided with proper surgical technique and postoperative care. Namely, by preserving adequate blood supply of the bowel and avoiding tension at the anoplasty, and by adhering to a structured protocol of anal dilations.


Assuntos
Malformações Anorretais , Anus Imperfurado , Laparoscopia , Fístula Retal , Doenças Uretrais , Fístula da Bexiga Urinária , Fístula Urinária , Masculino , Feminino , Humanos , Lactente , Recém-Nascido , Pré-Escolar , Criança , Malformações Anorretais/cirurgia , Malformações Anorretais/complicações , Constrição Patológica/cirurgia , Constrição Patológica/complicações , Anus Imperfurado/cirurgia , Dilatação , Laparoscopia/métodos , Fístula Retal/cirurgia , Reto/cirurgia , Reto/anormalidades , Canal Anal/cirurgia , Canal Anal/anormalidades , Fístula da Bexiga Urinária/complicações , Doenças Uretrais/cirurgia , Fístula Urinária/cirurgia , Estudos Retrospectivos , Complicações Pós-Operatórias/etiologia
9.
Pediatr Surg Int ; 38(12): 1723-1728, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36129533

RESUMO

PURPOSE: Limited research exists about the knowledge that adult patients have about their congenital colorectal diagnosis. METHODS: This was an IRB approved, prospective study of patients in the Adult Colorectal Research Registry who completed surveys between October 2019 and March 2022. Surveys were administered through REDCap after patients consented to being contacted for research purposes. Patients provided demographic data, which was linked to surgical records, and the diagnoses provided by patients were compared with diagnoses recorded by the original surgeons. RESULTS: One hundred and thirty-one questionnaires were collected, 115 patients had anorectal malformations (ARM) and 16 had Hirschsprung disease (HD). Seven patients who had ARM were unaware that they had an ARM or HD. The type of ARM recorded by the surgeon was unavailable for comparison with the patient's reported diagnosis in four cases. Of the 111 remaining patients with ARM, only 32 of them (29%) knew what their own type of anomaly was. Female patients recalled their diagnosis more often than male patients (42.4% vs 13.5%). All 16 participants with HD correctly identified their diagnosis severity as HD with or without total colonic aganglionosis. CONCLUSION: The results of this study demonstrate patient's limited understanding of their type of ARM and highlight the urgent need to enhance communication and education strategies, such as issuing patients with medical diagnosis identification cards. It is critical for clinicians to better communicate with patients to ensure that they and their relatives truly understand their precise diagnosis. Adequately informed patients can better advocate for themselves, adhere to treatments and precautionary recommendations and navigate the complexities of transitional care. Consequently they can more effectively manage their lifelong complications.


Assuntos
Malformações Anorretais , Neoplasias Colorretais , Doença de Hirschsprung , Adulto , Humanos , Masculino , Feminino , Estudos Prospectivos , Malformações Anorretais/diagnóstico , Malformações Anorretais/cirurgia , Malformações Anorretais/complicações , Doença de Hirschsprung/diagnóstico , Doença de Hirschsprung/cirurgia , Doença de Hirschsprung/complicações , Inquéritos e Questionários , Neoplasias Colorretais/complicações
10.
Pediatr Surg Int ; 38(5): 761-768, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35257221

RESUMO

PURPOSE: A five-parameter fecal continence evaluation questionnaire (FCEQ) and incidence of complications were used for long-term assessment of laparoscopy-assisted anorectoplasty (LAARP) and posterior sagittal anorectoplasty (PSARP) for treating male imperforate anus (MIA) with rectobulbar (RB) or rectoprostatic (RP) fistulas. METHODS: Subjects were 64 consecutive Japanese MIA patients with RB or RP fistulas treated at a single institution between 1995 and 2021. FCEQ data collected retrospectively were used to calculate a fecal continence evaluation (FCE) score (best = 10) and coefficient of variation for FCE (FCECV). The statistical significance threshold was defined at p < 0.05. RESULTS: Fistulas were RB (n = 40; LAARP = 25/40, PSARP = 15/40) or RP (n = 24; LAARP = 17/24, PSARP = 7/24). Mean ages at surgery and status of the sacrum were similar (p = 0.06, 0.05 and 0.51). FCE scores in RP-LAARP were consistently higher with less FCECV but differences were only statistically significant from 7 years postoperatively (p < 0.05). While FCE scores for RB-LAARP and RB-PSARP were similar (p = 0.99), FCECV were lower for RB-LAARP compared with RB-PSARP. LAARP was associated with less-wound infections, but greater incidence of anal mucosal prolapse unrelated to preoperative status of the sacrum. CONCLUSION: Long-term postoperative FCEQ assessment favored LAARP for treating MIA with either RB or RP fistulas.


Assuntos
Anus Imperfurado , Laparoscopia , Fístula Retal , Canal Anal/cirurgia , Anus Imperfurado/cirurgia , Seguimentos , Humanos , Lactente , Masculino , Fístula Retal/cirurgia , Reto/cirurgia , Estudos Retrospectivos , Resultado do Tratamento
11.
Am J Med Genet A ; 185(1): 190-195, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-33026150

RESUMO

AMOTL1 belongs to the Motin family of proteins that are involved in organogenesis and tumorigenesis through regulation of cellular migration, tube formation, and angiogenesis. While involvement of all AMOTs in development or suppression of cancers is relatively well described, little is known about the congenital phenotype of pathogenic variants in these genes in humans. Recently, a heterozygous variant in AMOTL1 was published in association with orofacial clefts and cardiac abnormalities in an affected father and his daughter. However, studies in mice did not recapitulate the human phenotype and the case was summarized as inconclusive. We present a female infant with cleft lip and palate, imperforate anus and dysmorphic features, in whom trio exome sequencing revealed a de novo variant in AMOTL1 affecting a highly conserved amino acid (c.479C>T; p.[Pro160Leu]). Bioinformatic predictions and in silico modeling supported pathogenicity. This case reinforces the conjecture regarding the disruptive effect of pathogenic variants in AMOTL1 on organ formation in humans. Studies of additional families will reveal the full phenotypic spectrum associated with this multiple malformation syndrome.


Assuntos
Fenda Labial/genética , Fissura Palatina/genética , Cardiopatias Congênitas/genética , Proteínas de Membrana/genética , Adulto , Angiomotinas , Fenda Labial/complicações , Fenda Labial/patologia , Fissura Palatina/complicações , Fissura Palatina/patologia , Pai , Feminino , Predisposição Genética para Doença , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/patologia , Humanos , Recém-Nascido , Masculino , Sequenciamento do Exoma
12.
J Korean Med Sci ; 35(14): e98, 2020 Apr 13.
Artigo em Inglês | MEDLINE | ID: mdl-32281315

RESUMO

BACKGROUND: Fifty to sixty percent of patients with anorectal malformation (ARM) have at least one associated anomaly (AA). We determined the incidence of AA with the subtypes of ARM classified in accordance with the Krickenbeck classification and analyzed differences in the incidence rates of major and minor AAs according to organ system. METHODS: From January 1999 to May 2017, we retrospectively analyzed congenital anomalies in patients who underwent an anoplasty for ARM at our institution. The AAs were divided into nine organ systems. To analyze the difference in the incidence of AAs, we calculated odds ratios (ORs) using cases of perineal fistula as the base group. RESULTS: Of the 460 patients, 256 (55.7%) were male, 299 (65%) had at least one anomaly, and 274 (59.6%) had major AAs. According to organ system, AAs were most common in the genitourinary (28%), cardiovascular (25%), and spinal/vertebral systems (22.6%). Major AA was most common in the cardiovascular (23%) and spinal/vertebral and genitourinary systems (19.3%). According to ARM subtype, AAs were common in the order of cloaca (93.9%), rectovaginal fistula (85.7%), and recto-bladder neck fistula (85%). For the incidence of AAs, cloaca (OR, 15.7) and recto-bladder neck fistula (OR, 5.74) showed significantly higher ORs. In the analysis of major AAs, the cloaca (OR, 19.77) showed the highest OR, followed by no fistula (OR, 4.78) and recto-bladder neck fistula (OR, 3.83). CONCLUSION: A considerable number of patients with ARM had AAs. Our data are useful for predicting AAs in patients with ARM.


Assuntos
Malformações Anorretais , Malformações Anorretais/complicações , Malformações Anorretais/epidemiologia , Peso ao Nascer , Feminino , Fístula/complicações , Fístula/epidemiologia , Humanos , Incidência , Masculino , Estudos Retrospectivos
13.
Surg Today ; 50(8): 889-894, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32052183

RESUMO

PURPOSE: The aim of this study was to evaluate the clinical outcomes and postoperative anorectal function in the patients with high/intermediate imperforate anus (HIA/IIA) treated in our institution. In addition, we report our novel procedure, laparoscopically assisted anorectoplasty with anterior perineal incision (LAARP-API), which allows direct approach to the anterior edge of the puborectal sling and muscle complex, and is useful for the creation of a pulling-through route for the rectal pouch. METHODS: From 1976 to 2016, 22 patients with HIA and 43 patients with IIA underwent sacroperineal/sacroabdominoperineal pull-through anorectoplasty (SP/SAP), Potts procedure (Potts), SP with API (SP-API) or LAARP-API. Clinical data and anorectal function of those patients were retrospectively evaluated using the Japanese clinical score. RESULTS: Of the 22 cases of HIA, 15 were treated by SAP, 2 were SP and 5 were LAARP-API. Of the 43 cases of IIA, one was treated by SAP, 31 were SP, two were Potts and nine were SP-API. The mean score of anorectal function of HIA/IIA both increased with age. In IIA, the score after SP-API was significantly higher than the score after SP. CONCLUSION: Long-term outcomes of our anorectoplasty for HIA/IIA are good with excellent anorectal function score.


Assuntos
Canal Anal/cirurgia , Anus Imperfurado/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Recuperação de Função Fisiológica , Reto/cirurgia , Adolescente , Adulto , Canal Anal/fisiopatologia , Anus Imperfurado/fisiopatologia , Criança , Feminino , Humanos , Masculino , Reto/fisiopatologia , Estudos Retrospectivos , Fatores de Tempo , Resultado do Tratamento , Adulto Jovem
14.
Pediatr Surg Int ; 36(4): 431-445, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-32086570

RESUMO

The introduction of posterior sagittal anorectoplasty (PSARP) by deVries and Peña in the early 80s has impacted to the treatment of patients with anorectal malformations (ARM). It gained great recognition worldwide in a very short time, and since then, surgeons dealing with the treatment of this complex malformation could achieve tremendous progress in contemporary management of this anomaly. Despite the growing experience and body of information globally, the treatment of ARMs continues to be a challenge to the pediatric surgeons due to the nature and the variability of the anomaly, and short- and long-term problems continue to exist even after nearly 40 years of the PSARP era. Today, knowing more about it, pediatric surgeons are committed to do more for their ARM patients to have them as physically and socially healthy individuals.


Assuntos
Canal Anal/cirurgia , Malformações Anorretais/cirurgia , Procedimentos Cirúrgicos do Sistema Digestório/efeitos adversos , Procedimentos de Cirurgia Plástica/efeitos adversos , Complicações Pós-Operatórias , Reto/cirurgia , Canal Anal/anormalidades , Criança , Humanos , Reto/anormalidades
15.
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
16.
BMC Pediatr ; 19(1): 123, 2019 04 23.
Artigo em Inglês | MEDLINE | ID: mdl-31014306

RESUMO

BACKGROUND: Congenital megalourethra is a rare prenatal finding while prenatal diagnosis of imperforate anus poses high challenge. This is the first prenatally ultrasound diagnosed case which had congenital megalourethra and imperforate anus. This case demonstrated the possibility of using the prenatal imaging findings to evaluate the postnatal prognostic outcomes in multi-organ anomalies. CASE: We present a case of congenital megalourethra, diagnosed prenatally at 22 weeks' gestation, in which the penis appeared severe dilated with complete absence of the corpora spongiosa and cavernosa. This case also revealed absence of perianal muscle which was in associated with imperforate anus. Detailed prenatal ultrasonographic findings predicted the high possibility of poor outcome of the fetus in the pulmonary, renal, and sexual functions. CONCLUSION: This case serves to identify not only the marked bilateral hydronephrosis features but also the striking lower urethral malformation with obstruction flow effect of the penis. Indeed we believe this is the first case report of a rare case of fetal megalourethra associated with imperforate anus at early second trimester on ultrasonography imaging.


Assuntos
Aborto Terapêutico , Anus Imperfurado/diagnóstico por imagem , Uretra/anormalidades , Anormalidades Urogenitais/diagnóstico por imagem , Anormalidades Múltiplas/diagnóstico por imagem , China , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , Segundo Trimestre da Gravidez , Diagnóstico Pré-Natal , Doenças Raras , Ultrassonografia Pré-Natal
17.
BMC Pediatr ; 19(1): 296, 2019 08 27.
Artigo em Inglês | MEDLINE | ID: mdl-31455287

RESUMO

BACKGROUND: Scimitar syndrome is a rare form of partial anomalous pulmonary venous drainage associated with pulmonary hypertension and congestive heart failure that may lead to death in the newborn infant. Although it is described with anomalies of the lung, heart and their vascular structure, extremely rare association with imperforate anus had been reported. The third case of Scimitar syndrome and imperforate anus will be reported in this case report. CASE PRESENTATION: A 3 days old male neonate with imperforate anus presented with abdominal distention. Loop colostomy was done to relieve abdominal distension. The chest x-ray revealed a curved shadow on the right mid lung zone extending to the diaphragm abutting and indenting the inferior vena cava (scimitar sign). Abdominal ultrasound, transthoracic echocardiography and computerized tomographic angiography confirmed the presence of Scimitar vein and associated dextro-position of the heart, hypoplastic right lung, hypoplastic right pulmonary artery, secundum atrial septal defect with bidirectional shunt, patent ductus arteriosus, pulmonary hypertension, left superior vena cava, and systemic collateral arteries feeding the lower lobe of the right lung. The rare association of scimitar syndrome with imperforate anus is discussed. CONCLUSION: Scimitar syndrome associated with imperforate anus with and without VACTERL association has been reported previously only in four cases. The knowledge of association between imperforate anus and Scimitar syndrome helps for early detection and management of cases. It is recommended to have high index of suspicion in every newborn with imperforate anus to check for symptoms of dextro-position of the heart, right lung hypoplasia which may be indicate scimitar syndrome.


Assuntos
Anus Imperfurado/complicações , Síndrome de Cimitarra/complicações , Angiografia por Tomografia Computadorizada , Etiópia , Humanos , Recém-Nascido , Masculino , Veias Pulmonares/anormalidades , Veias Pulmonares/diagnóstico por imagem , Síndrome de Cimitarra/diagnóstico por imagem , Centros de Atenção Terciária
18.
J Ultrasound Med ; 38(10): 2777-2783, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30693972

RESUMO

This case series describes a novel method for showing the preoperative anatomy of children with anorectal malformations using ultrasound contrast, which we have termed "contrast-enhanced colosonography (ceCS)." Six patients with anorectal malformations without a perineal fistula were studied both by fluoroscopic distal colostography and ceCS, and their results were confirmed surgically. Contrast-enhanced CS precisely showed the complex anatomic relationships in all cases. Compared to traditional fluoroscopic studies, ceCS has the benefit of no associated ionizing radiation and thus is safer for children.


Assuntos
Anus Imperfurado/diagnóstico por imagem , Meios de Contraste , Aumento da Imagem/métodos , Ultrassonografia/métodos , Canal Anal/diagnóstico por imagem , Canal Anal/cirurgia , Anus Imperfurado/cirurgia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Prospectivos
19.
J Ultrasound Med ; 38(6): 1501-1509, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30280402

RESUMO

OBJECTIVES: To investigate the applicability and value of ultrasound (US) in the diagnosis of anorectal atresia. METHODS: Between January 2008 and January 2016, we prospectively evaluated 63,101 fetuses (gestational age, 20-38 weeks), including low- and high-risk populations using 2-dimensional US scans. An abnormal imaging finding was defined as an anal canal diameter of less than the 95% confidence interval (small anal canal) of the normal range or the absence of an anal canal and rectum. Imaging findings were considered normal on detection of an anal canal with a normal width and the absence of abnormalities. Prenatal imaging findings were confirmed by a postnatal or postmortem examination. RESULTS: Among the investigated fetuses, 28 showed evidence of anorectal atresia on US scans, and 22 of those with anorectal atresia had additional anomalies. Six cases of isolated anorectal atresia were successfully detected during the preclusive prenatal US scans. Four cases of a low imperforate anus (including 2 covered anuses) yielded false-negative results, indicating a diagnostic rate of 87.5% (28 of 32). The normal appearance of the fetal rectum and anal canal ruled out anorectal atresia in 30 fetuses with a dilated colon. Additionally, there were 3 false-positive cases, in which a narrow anal canal was observed. CONCLUSIONS: Identifying the abnormal appearance or absence of the fetal anal canal and rectum on preclusive US anomaly scans is useful for prenatal diagnosis or exclusion of anorectal atresia, which may help improve the detection of isolated anorectal atresia. Furthermore, a combined evaluation of the longitudinal and axial appearances of the fetal anal canal and rectum can improve diagnostic accuracy.


Assuntos
Malformações Anorretais/diagnóstico por imagem , Malformações Anorretais/embriologia , Ultrassonografia Pré-Natal/métodos , Canal Anal/diagnóstico por imagem , Canal Anal/embriologia , Feminino , Humanos , Gravidez , Estudos Prospectivos , Reto/diagnóstico por imagem , Reto/embriologia , Reprodutibilidade dos Testes
20.
Pediatr Surg Int ; 35(2): 221-226, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30413919

RESUMO

PURPOSE: To find the incidence of tethered cord (TC) in patients with anorectal malformations (ARM) and to determine the relationship between bowel/urinary control and TC in a subset of patients with rectobladder neck fistula (RBNF). METHODS: The database of a tertiary medical center was retrospectively collected for all patients treated for ARM from 1980 to 2012. All patients with TC and RBNF were identified. RESULTS: Among 790 patients, who underwent screening for TC, 285(36%) were diagnosed with TC. Eleven of 37 screened patients with RBNF were diagnosed with TC. The median follow-up period was 49 months (range 2-222 months). TC was diagnosed in 3/18(16.6%) patients with sacral ratio (SR) ≥ 0.7; 4/12(33.3%) with SR 0.41-0.69; and 4/7(57.1%) patients with SR 0-0.4. The association of TC in RBNF patients had a negative influence in the prognosis for bowel and urinary control. CONCLUSION: The incidence of TC among patients with ARM is 36%. Incidence of TC among patients with RBNF correlates with SR value and is higher with lower SR. Patients with RBNF and TC have dismal prognosis for bowel control, unrelated to their SR status. Many unresolved questions related to the management of ARM patients with asymptomatic TC still remain.


Assuntos
Malformações Anorretais/complicações , Incontinência Fecal/etiologia , Defeitos do Tubo Neural/complicações , Fístula Retal/complicações , Fístula da Bexiga Urinária/complicações , Incontinência Urinária/etiologia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Prognóstico , Estudos Retrospectivos
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