RESUMEN
ABSTRACT: Genitourinary prolapse in newborn females as an introital mass is an uncommon entity. The usual causative mechanisms are poor pelvic innervation, damage or pressure on pelvic musculature and ligaments etc. Different methods of reduction as treatment were proposed in the past. Apart from uncommon occurrence of genitourinary prolapse in newborns, its association with anorectal malformation is not reported in English literature after searching on PubMed and Google Scholar. We report three cases of genitourinary prolapse with anorectal malformation in newborn females where decompressing colostomy was curative for the condition reflecting increased intra-abdominal pressure as causative mechanism.
Asunto(s)
Malformaciones Anorrectales , Humanos , Femenino , Recién Nacido , Malformaciones Anorrectales/cirugía , Malformaciones Anorrectales/complicaciones , Malformaciones Anorrectales/diagnóstico , Prolapso de Órgano Pélvico/cirugía , Prolapso de Órgano Pélvico/diagnóstico , Prolapso de Órgano Pélvico/complicaciones , Anomalías Urogenitales/cirugía , Anomalías Urogenitales/complicaciones , Anomalías Urogenitales/diagnóstico , Colostomía , Ano Imperforado/cirugía , Ano Imperforado/diagnóstico , Ano Imperforado/complicacionesRESUMEN
PURPOSE: Surgical procedures for anorectoplasty for anorectal malformations (ARMs), particularly rectourethral fistula (RUF), depend on the institution. We investigated the diagnosis and treatment of RUF in male patients with ARMs in Japan using a questionnaire survey. METHODS: An online survey inquiring about the diagnosis and treatment (diagnostic modalities, surgical approaches, fistula dissection devices, and fistula closure techniques) of each type of ARM in male patients was conducted among institutional members of the Japanese Study Group of Anorectal Anomalies. Fisher's exact test was used to compare surgical methods between posterior sagittal anorectoplasty (PSARP) and laparoscopy-assisted anorectoplasty (LAARP). RESULTS: Sixty-one institutions (100%) completed the survey. LAARP was the preferred approach for high-type ARM (75.4%). PSARP was preferred for intermediate-type ARM (59.0%). Monopolar devices were most commonly used (72.1%) for RUF dissection. Blunt dissection was more frequent in the PSARP group (PSARP vs. LAARP: 55.6 vs. 20.0%, p < 0.005). Cystoscopy/urethroscopy to confirm the extent of dissection was used more frequently in the LAARP group (70.0% vs. 25.0%, p < 0.005). Clips and staplers were used more frequently in the LAARP group (p < 0.05). CONCLUSION: Distinct fistula management strategies for PSARP and LAARP were revealed. Further studies are needed to investigate the postoperative outcomes associated with these practices.
Asunto(s)
Malformaciones Anorrectales , Fístula Rectal , Enfermedades Uretrales , Fístula Urinaria , Humanos , Masculino , Fístula Rectal/cirugía , Fístula Rectal/diagnóstico , Japón , Malformaciones Anorrectales/cirugía , Fístula Urinaria/cirugía , Fístula Urinaria/diagnóstico , Encuestas y Cuestionarios , Enfermedades Uretrales/cirugía , Enfermedades Uretrales/diagnóstico , Ano Imperforado/cirugía , Ano Imperforado/diagnóstico , Laparoscopía/métodosRESUMEN
Johanson-Blizzard syndrome (JBS) is an autosomal recessive disorder. We established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a 2-year-old boy with Johanson-Blizzard syndrome carrying a compound heterozygous mutation of c.3167C>G (p.S1056X) and c.1911 + 14C>G(splicing) in the UBR1 gene. This iPSC line was free of exogenous gene, expressed stemness markers, exhibited differentiation potential, had normal karyotype and harbored the same mutations found in the patient. The iPSC cellline can serve as a disease model in drug development and novel personalized therapies.
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Ano Imperforado , Displasia Ectodérmica , Trastornos del Crecimiento , Pérdida Auditiva Sensorineural , Células Madre Pluripotentes Inducidas , Mutación , Ubiquitina-Proteína Ligasas , Humanos , Células Madre Pluripotentes Inducidas/metabolismo , Masculino , Ubiquitina-Proteína Ligasas/genética , Trastornos del Crecimiento/genética , Trastornos del Crecimiento/patología , Pérdida Auditiva Sensorineural/genética , Pérdida Auditiva Sensorineural/patología , Preescolar , Displasia Ectodérmica/genética , Displasia Ectodérmica/patología , Ano Imperforado/genética , Ano Imperforado/patología , Heterocigoto , Nariz/patología , Nariz/anomalías , Línea Celular , Insuficiencia Pancreática Exocrina/genética , Insuficiencia Pancreática Exocrina/patología , Sordera/genética , Sordera/patología , Diferenciación Celular , Discapacidad Intelectual/genética , Discapacidad Intelectual/patología , Hipotiroidismo , Enfermedades PancreáticasRESUMEN
OBJECTIVE: Treatment of neonates with anorectal malformations (ARMs) can be challenging due to variability in anatomic definitions, multiple approaches to surgical management, and heterogeneity of reported outcomes. The purpose of this systematic review is to summarize existing evidence, identify treatment controversies, and provide guidelines for perioperative care. METHODS: The American Pediatric Surgical Association Outcomes and Evidence Based Practice Committee (OEBP) drafted five consensus-based questions regarding management of children with ARMs. These questions were related to categorization of ARMs and optimal methods and timing of surgical management. A comprehensive search strategy was performed, and the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were used to perform the systematic review to attempt to answer five questions related to surgical care of ARM. RESULTS: A total of 10,843 publications were reviewed, of which 90 were included in final recommendations, and some publications addressed more than one question (question: 1 n = 6, 2 n = 63, n = 15, 4 n = 44). Studies contained largely heterogenous groups of ARMs, making direct comparison for each subtype challenging and therefore, no specific recommendation for optimal surgical approach based on outcomes can be made. Both loop and divided colostomy may be acceptable methods of fecal diversion for patients with a diagnosis of anorectal malformation, however, loop colostomies have higher rates of prolapse in the literature reviewed. In terms of timing of repair, there did not appear to be significant differences in outcomes between early and late repair groups. Clear and uniform definitions are needed in order to ensure similar populations of patients are compared moving forward. Recommendations are provided based primarily on A-D levels of evidence. CONCLUSIONS: Evidence-based best practices for ARMs are lacking for many aspects of care. Multi-institutional registries have made progress to address some of these gaps. Further prospective and comparative studies are needed to improve care and provide consensus guidelines for this complex patient population.
Asunto(s)
Malformaciones Anorrectales , Humanos , Malformaciones Anorrectales/cirugía , Recién Nacido , Medicina Basada en la Evidencia , Recto/anomalías , Recto/cirugía , Canal Anal/anomalías , Canal Anal/cirugía , Ano Imperforado/cirugía , Procedimientos Quirúrgicos del Sistema Digestivo/métodosRESUMEN
ABSTRACT: Currarino syndrome (CS) is a rare congenital syndrome characterized by a triad of anorectal malformation, sacral deformity, and presacral mass. In about 50% of cases, it is caused by HLXB9 gene mutation in chromosome 7q36. A 13-month-male child presented with presacral discharging sinus with a history of surgery for anorectal malformation and perineal fistula at the time of birth. On detailed investigation, the child revealed to have anal atresia, hemisacrum, and presacral mass. Histopathology of presacral mass showed features of immature teratoma. The presacral mass in CS is mostly an anterior myelomeningocele or presacral teratoma. The development of immature teratoma in presacral mass is very rare. The histopathological identification of immature component of teratoma in the presacral mass of CS is important for risk stratification and further management. Suspicion of CS should be raised in any child presenting with partial phenotype of the triad.
Asunto(s)
Canal Anal , Anomalías del Sistema Digestivo , Recto , Sacro , Siringomielia , Teratoma , Humanos , Teratoma/patología , Teratoma/cirugía , Teratoma/diagnóstico , Masculino , Canal Anal/anomalías , Canal Anal/cirugía , Canal Anal/patología , Sacro/anomalías , Sacro/cirugía , Sacro/patología , Anomalías del Sistema Digestivo/cirugía , Anomalías del Sistema Digestivo/diagnóstico , Anomalías del Sistema Digestivo/patología , Anomalías del Sistema Digestivo/genética , Siringomielia/cirugía , Siringomielia/genética , Siringomielia/patología , Siringomielia/diagnóstico , Siringomielia/diagnóstico por imagen , Lactante , Recto/anomalías , Recto/cirugía , Recto/patología , Ano Imperforado/cirugía , Ano Imperforado/diagnóstico , Ano Imperforado/genética , Ano Imperforado/patologíaRESUMEN
BACKGROUND: Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by imperforate anus, dysplastic ears, thumb malformations, and other abnormalities. Previous studies have revealed that mutations in the SALL1 gene can disrupt normal development, resulting in the characteristic features of Townes-Brocks syndrome. Spalt-like transcription factors (SALLs) are highly conserved proteins that play important roles in various cellular processes, including embryonic development, cell differentiation, and cell survival. Over 400 different variants or mutations have been reported in the SALL1 gene in individuals with TBS. Most of these variants lead to the formation of premature termination codons (PTCs), also known as nonsense mutations. The majority of these PTCs occur in a specific region of the SALL1 gene called the "hotspot region", which is particularly susceptible to mutation. METHODS: In this study, we conducted whole-exome sequencing on a three-generation Chinese family with anorectal malformations. RESULTS: We identified a novel heterozygous mutation (chr16:51175376:c.757 C > T p.Gln253*) in the SALL1 gene. Molecular analysis revealed a heterozygous C to T transition at nucleotide position 757 in exon 2 of the SALL1 (NM_002968) gene. This mutation is predicted to result in the substitution of the Gln253 codon with a premature stop codon (p.Gln253*). The glutamine-rich domain forms a long alpha helix, enabling the mutant protein to interact with the wild-type SALL1 protein. This interaction may result in steric hindrance effects on the wild-type SALL1 protein. CONCLUSIONS: Our findings have expanded the mutation database of the SALL1 gene, which is significant for genetic counseling and clinical surveillance in the affected family. Furthermore, our study enhances the understanding of Townes-Brocks syndrome and has the potential to improve its diagnosis and treatment.
Asunto(s)
Anomalías Múltiples , Ano Imperforado , Linaje , Factores de Transcripción , Femenino , Humanos , Masculino , Anomalías Múltiples/genética , Malformaciones Anorrectales/genética , Ano Imperforado/genética , Pueblo Asiatico/genética , China , Pueblos del Este de Asia , Pérdida Auditiva Sensorineural , Mutación , Enfermedades Raras/genética , Pulgar/anomalías , Factores de Transcripción/genéticaRESUMEN
BACKGROUND: Anorectal malformations (ARMs) are congenital anomalies of the anorectum and the genitourinary system that result in a broad spectrum of hindgut anomalies. Despite surgical correction patients continue to have late postoperative genitourinary and colorectal dysfunction that have significant impact on quality of life. AIM: This paper will review the current evidence and discuss the evaluation and management of postoperative patients with ARMs who present with persistent defecation disorder. METHODS: A literature search was conducted using PubMed/MEDLINE/EMBASE databases applying the following terms: ARMs, imperforate anus, constipation, faecal incontinence, neurogenic bowel, posterior sagittal anorectoplasty. RESULTS: Patients who present with postoperative defecation disorders require timely diagnostic and surgical evaluation for anatomic abnormalities prior to initiation of bowel management. Goals of management are to avoid constipation in young children, achieve faecal continence in early childhood and facilitate independence in older children and adolescents. Treatment options vary from high dose stimulant laxatives to high-volume retrograde and antegrade enemas that facilitate mechanical colonic emptying. CONCLUSIONS: Appropriate diagnostic work-up and implementation of treatment can decrease long-term morbidity and improve quality of life in postoperative patients with ARMs who presents with defecation disorders.
Asunto(s)
Malformaciones Anorrectales , Estreñimiento , Incontinencia Fecal , Calidad de Vida , Humanos , Malformaciones Anorrectales/cirugía , Malformaciones Anorrectales/terapia , Malformaciones Anorrectales/diagnóstico , Estreñimiento/terapia , Estreñimiento/etiología , Estreñimiento/diagnóstico , Incontinencia Fecal/terapia , Incontinencia Fecal/etiología , Complicaciones Posoperatorias , Ano Imperforado/cirugía , Ano Imperforado/diagnóstico , Laxativos/uso terapéutico , Niño , Canal Anal/anomalías , Canal Anal/cirugíaRESUMEN
PURPOSE: Congenital anorectal stenosis is managed by dilations or operative repair. Recent studies now propose use of dilations as the primary treatment modality to potentially defer or eliminate the need for surgical repair. We aim to characterize the management and outcomes of these patients via a multi-institutional review using the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) registry. METHODS: A retrospective database review was performed using the PCPLC registry. The patients were evaluated for demographics, co-morbidities, diagnostic work-up, surgical intervention, current bowel management, and complications. RESULTS: 64 patients with anal or rectal stenosis were identified (57 anal, 7 rectal) from a total of 14 hospital centers. 59.6% (anal) and 42.9% (rectal) were male. The median age was 3.2 (anal) and 1.9 years (rectal). 11 patients with anal stenosis also had Currarino Syndrome with 10 of the 11 patients diagnosed with a presacral mass compared to only one rectal stenosis with Currarino Syndrome and a presacral mass. 13 patients (22.8%, anal) and one (14.3%, rectal) underwent surgical correction. Nine patients (8 anal, 1 rectal) underwent PSARP. Other procedures performed were cutback anoplasty and anterior anorectoplasty. The median age at repair was 8.4 months (anal) and 10 days old (rectal). One patient had a wound complication in the anal stenosis group. Bowel management at last visit showed little differences between groups or treatment approach. CONCLUSION: The PCPLC registry demonstrated that these patients can often be managed successfully with dilations alone. PSARP is the most common surgical repair chosen for those who undergo surgical repair. LEVEL OF EVIDENCE: III.
Asunto(s)
Dilatación , Humanos , Masculino , Estudios Retrospectivos , Femenino , Lactante , Preescolar , Constricción Patológica/cirugía , Dilatación/métodos , Sistema de Registros , Malformaciones Anorrectales/cirugía , Malformaciones Anorrectales/complicaciones , Niño , Resultado del Tratamiento , Recto/anomalías , Recto/cirugía , Enfermedades del Recto/terapia , Enfermedades del Recto/cirugía , Enfermedades del Recto/congénito , Enfermedades del Recto/diagnóstico , Canal Anal/anomalías , Canal Anal/cirugía , Ano Imperforado/cirugía , Ano Imperforado/complicaciones , Ano Imperforado/diagnósticoRESUMEN
BACKGROUND: This study describes the presentation and initial management of anorectal malformation (ARM); evaluating the frequency, causes and consequences of late diagnosis. METHODS: A prospective, population cohort study was undertaken for newly diagnosed ARMs in the UK and Ireland from 01/10/2015 and 30/09/2016. Follow-up was completed at one year. Data are presented as n (%), appropriate statistical methods used. Factors associated with late diagnosis; defined as: detection of ARM either following discharge or more than 72 h after birth were assessed with univariable logistic regression. RESULTS: Twenty six centres reported on 174 cases, 158 of which were classified according to the type of malformation and 154 had completed surgical data. Overall, perineal fistula was the most commonly detected anomaly 43/158 (27%); of the 41 of these children undergoing surgery, 15 (37%) had a stoma formed. 21/154 (14%, CI95{9-20}) patients undergoing surgery experienced post-operative complications. Thirty-nine (22%) were diagnosed late and 12 (7%) were detected >30 days after birth. Factors associated with late diagnosis included female sex (OR 2.06; 1.0-4.26), having a visible perineal opening (OR 2.63; 1.21-5.67) and anomalies leading to visible meconium on the perineum (OR 18.74; 2.47-141.73). 56/174 (32%) had a diagnosis of VACTERL association (vertebral, anorectal, cardiac, tracheal, oesophageal, renal and limb); however, not all infants were investigated for commonly associated anomalies. 51/140 (36%) had a cardiac anomaly detected on echocardiogram. CONCLUSION: There is room for improvement within the care for infants born with ARM in the UK and Ireland. Upskilling those performing neonatal examination to allow timely diagnosis, instruction of universal screening for associated anomalies and further analysis of the factors leading to clinically unnecessary stoma formation are warranted. LEVEL OF EVIDENCE: II (Prospective Cohort Study <80% follow-up).
Asunto(s)
Malformaciones Anorrectales , Diagnóstico Tardío , Humanos , Irlanda/epidemiología , Femenino , Recién Nacido , Masculino , Reino Unido/epidemiología , Malformaciones Anorrectales/diagnóstico , Malformaciones Anorrectales/cirugía , Malformaciones Anorrectales/epidemiología , Estudios Prospectivos , Diagnóstico Tardío/estadística & datos numéricos , Canal Anal/anomalías , Canal Anal/cirugía , Recto/anomalías , Recto/cirugía , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/diagnóstico , Estudios de Seguimiento , Tráquea/anomalías , Tráquea/cirugía , Ano Imperforado/cirugía , Ano Imperforado/diagnóstico , Lactante , Esófago/anomalías , Esófago/cirugía , Deformidades Congénitas de las Extremidades/diagnóstico , Deformidades Congénitas de las Extremidades/cirugía , Deformidades Congénitas de las Extremidades/epidemiología , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/cirugía , Riñón/anomalías , Columna Vertebral/anomalíasRESUMEN
Townes-Brocks syndrome (TBS) is an autosomal dominant disorder characterised by the triad of anorectal, thumb, and ear malformations. It may also be accompanied by defects in kidney, heart, eyes, hearing, and feet. TBS has been demonstrated to result from heterozygous variants in the SALL1 gene, which encodes zinc finger protein believed to function as a transcriptional repressor. The clinical characteristics of an atypical TBS phenotype patient from a Chinese family are described, with predominant manifestations including external ear dysplasia, unilateral renal hypoplasia with mild renal dysfunction, and hearing impairment. A novel heterozygous variant c.3060T>A (p.Tyr1020*) in exon 2 of the SALL1 gene was identified in this proband. Pyrosequencing of the complementary DNA of the proband revealed that the variant transcript accounted for 48% of the total transcripts in peripheral leukocytes, indicating that this variant transcript has not undergone nonsense-mediated mRNA decay. This variant c.3060T > A is located at the terminal end of exon 2, proximal to the 3' end of the SALL1 gene, and exerts a relatively minor impact on protein function. We suggest that the atypical TBS phenotype observed in the proband may be attributed to the truncated protein retaining partial SALL1 function.
Asunto(s)
Anomalías Múltiples , Pérdida Auditiva Sensorineural , Factores de Transcripción , Femenino , Humanos , Masculino , Anomalías Múltiples/genética , Ano Imperforado/genética , Ano Imperforado/diagnóstico , China , Análisis Mutacional de ADN , Oído/anomalías , Pueblos del Este de Asia/genética , Predisposición Genética a la Enfermedad , Herencia , Heterocigoto , Mutación , Linaje , Fenotipo , Pulgar/anomalías , Fístula Traqueoesofágica/genética , Factores de Transcripción/genéticaRESUMEN
We present three new and six published infants with overlapping features of LUMBAR syndrome (lower body hemangioma, urogenital anomalies, spinal cord malformations, bony deformities, anorectal/arterial anomalies and renal anomalies) and OEIS complex (omphalocele, exstrophy, imperforate anus, and spinal defects), also known as cloacal exstrophy. OEIS is included under the recently proposed umbrella coined recurrent constellations of embryonic malformations (RCEMs). The RCEMs represent a phenotypically overlapping spectrum of rare disorders of caudal dysgenesis with unknown cause but likely shared pathogenesis. It has recently been proposed that LUMBAR be considered an RCEM. This report of infants with combined features of OEIS and LUMBAR is the first to demonstrate an overlap between LUMBAR and another RCEM, which supports LUMBAR's inclusion within the RCEM spectrum.
Asunto(s)
Anomalías Múltiples , Ano Imperforado , Humanos , Ano Imperforado/genética , Ano Imperforado/patología , Ano Imperforado/diagnóstico , Anomalías Múltiples/genética , Anomalías Múltiples/patología , Anomalías Múltiples/diagnóstico , Femenino , Masculino , Recién Nacido , Anomalías Urogenitales/genética , Anomalías Urogenitales/diagnóstico , Anomalías Urogenitales/patología , Hernia Umbilical/diagnóstico , Hernia Umbilical/patología , Lactante , Síndrome , Cloaca/anomalías , Cloaca/patología , Hemangioma/patología , Hemangioma/diagnóstico , Hemangioma/genética , Fenotipo , Columna Vertebral/anomalías , Columna Vertebral/patología , Columna Vertebral/diagnóstico por imagen , EscoliosisRESUMEN
BACKGROUND: Despite the initiation of minimally invasive laparoscopic techniques, the majority of patients who undergo anorectal malformation repair still experience functional bowel issues in childhood, including constipation and fecal incontinence. In this study, we evaluate the functional outcomes of a procedure in which magnetic resonance imaging guidance is used during initial laparoscopic repair to better locate the epicenter of the sphincter muscle complex and pelvic floor with the goal of more accurate placement of the neoanus and improved functional outcomes. METHODS: A retrospective chart review evaluated demographic, operative, and outcome details for patients who underwent this procedure. A telephone survey was employed to determine levels of social continence using the validated Baylor Continence Scale and to determine what type of bowel management is used. RESULTS: Twenty-six patients were included. Median age at operation was 7 months, and median age at follow-up was 4 years old, with a range of 1-9. Bowel management regimen results revealed that 19 % (n = 5) use no bowel management regimen, 58 % (n = 15) use laxatives only, and 23 % (n = 6) use enemas. Enema use was not associated with different spine or sacral anomalies (p = 0.77). Fifteen patients (58 %) answered the Baylor Continence Scale questions and had a median score of 14. No difference was found in scores when accounting for lesion level (p = 0.43), quality of needle placement (p = 0.46), or quality of sphincter muscles (p = 0.75). CONCLUSIONS: Using MRI guidance in the repair of anorectal malformations shows promise in both the qualitative and quantitative functional outcomes of this complex patient population. LEVEL OF EVIDENCE: Level III.
Asunto(s)
Malformaciones Anorrectales , Incontinencia Fecal , Imagen por Resonancia Magnética , Humanos , Estudios Retrospectivos , Masculino , Femenino , Imagen por Resonancia Magnética/métodos , Malformaciones Anorrectales/cirugía , Incontinencia Fecal/etiología , Lactante , Preescolar , Resultado del Tratamiento , Laparoscopía/métodos , Estudios de Seguimiento , Estreñimiento/etiología , Canal Anal/anomalías , Canal Anal/cirugía , Niño , Cirugía Asistida por Computador/métodos , Recto/cirugía , Recto/anomalías , Complicaciones Posoperatorias/etiología , Enema/métodos , Ano Imperforado/cirugía , Ano Imperforado/diagnóstico por imagen , Laxativos/uso terapéutico , Laxativos/administración & dosificaciónRESUMEN
BACKGROUND: Townes-Brocks syndrome (TBS) is a rare genetic disorder characterised by multiple malformations. Due to its phenotypic heterogeneity and rarity, diagnosis and recognition of TBS can be challenging and there has been a lack of investigation of patients with atypical TBS in large cohorts and delineation of their phenotypic characteristics. METHODS: We screened SALL1 and DACT1 variants using next-generation sequencing in the China Deafness Genetics Consortium (CDGC) cohort enrolling 20 666 unrelated hearing loss (HL) cases. Comprehensive clinical evaluations were conducted on seven members from a three-generation TBS family. Combining data from previously reported cases, we also provided a landscape of phenotypes and genotypes of patients with TBS. RESULTS: We identified five novel and two reported pathogenic/likely pathogenic (P/LP) SALL1 variants from seven families. Audiological features in patients differed in severity and binaural asymmetry. Moreover, previously undocumented malformations in the middle and inner ear were detected in one patient. By comprehensive clinical evaluations, we further provide evidence for the causal relationship between SALL1 variation and certain endocrine abnormalities. Penetrance analysis within familial contexts revealed incomplete penetrance among first-generation patients with TBS and a higher disease burden among their affected offspring. CONCLUSION: This study presents the first insight of genetic screening for patients with TBS in a large HL cohort. We broadened the phenotypic-genotypic spectrum of TBS and our results supported an underestimated prevalence of TBS. Due to the rarity and phenotypic heterogeneity of rare diseases, broader spectrum molecular tests, especially whole genome sequencing, can improve the situation of underdiagnosis and provide effective recommendations for clinical management.
Asunto(s)
Anomalías Múltiples , Ano Imperforado , Pérdida Auditiva Sensorineural , Pulgar/anomalías , Factores de Transcripción , Humanos , Mutación , Factores de Transcripción/genética , Síndrome , Pérdida Auditiva Sensorineural/diagnóstico , Pérdida Auditiva Sensorineural/genética , Fenotipo , Proteínas Nucleares/genética , Proteínas Adaptadoras Transductoras de Señales/genéticaRESUMEN
Urorectal septum malformation sequence (URSMS) is an uncommon disease characterized by a failure of the anorectal septum to divide the cloaca and fuse with the cloacal membrane. Complete URSMS is usually lethal in newborn due to severe renal dysfunction and pulmonary hypoplasia. Partial URSMS is compatible with life with a single perineal opening draining a common cloaca with an imperforate anus which amenable to surgical management. Antenatal diagnosis of URSMS is challenging because of multisystem, complex abnormalities involving gastrointestinal, urogenital tract, cardiovascular, and musculoskeletal systems. In this case report, we describe a 15-week male fetus with partial URSMS having a spectrum of multisystem structural anomalies associated with fetal neuroblastoma in retroperitoneal location and adrenal neuroblastoma in situ.
Asunto(s)
Anomalías Múltiples , Ano Imperforado , Neuroblastoma , Anomalías Urogenitales , Recién Nacido , Humanos , Masculino , Femenino , Embarazo , Anomalías Urogenitales/diagnóstico , Ano Imperforado/diagnóstico , Feto , Anomalías Múltiples/diagnóstico , Neuroblastoma/diagnósticoRESUMEN
Bladder exstrophy epispadias complex (BEEC) encompasses a spectrum of conditions ranging from mild epispadias to the most severe form: omphalocele-bladder exstrophy-imperforate anus-spinal defects (OEIS). BEEC involves abnormalities related to anatomical structures that are proposed to have a similar underlying etiology and pathogenesis. In general, BEEC, is considered to arise from a sequence of events in embryonic development and is believed to be a multi-etiological disease with contributions from genetic and environmental factors. Several genes have been implicated and mouse models have been generated, including a knockout model of p63, which is involved in the synthesis of stratified epithelium. Mice lacking p63 have undifferentiated ventral urothelium. MNX1 has also been implicated. In addition, cigarette smoking, diazepam and clomid have been implied as environmental factors due to their relative association. By in large, the etiology and pathogenesis of human BEEC is unknown. We performed de novo analysis of whole exome sequencing (WES) of germline samples from 31 unrelated trios where the probands have a diagnosis of BEEC syndrome. We also evaluated the DECIPHER database to identify copy number variants (CNVs) in genes in individuals with the search terms "bladder exstrophy" in an attempt to identify additional candidate genes within these regions. Several de novo variants were identified; however, a candidate gene is still unclear. This data further supports the multi-etiological nature of BEEC.
Asunto(s)
Ano Imperforado , Extrofia de la Vejiga , Epispadias , Hernia Umbilical , Escoliosis , Anomalías Urogenitales , Embarazo , Femenino , Humanos , Animales , Ratones , Extrofia de la Vejiga/genética , Extrofia de la Vejiga/patología , Epispadias/genética , Epispadias/patología , Secuenciación del Exoma , Vejiga Urinaria/patología , Factores de Transcripción/genética , Proteínas de Homeodominio/genéticaAsunto(s)
Anomalías Múltiples , Anestésicos , Ano Imperforado , Pérdida Auditiva Sensorineural , Pulgar/anomalías , Embarazo , Humanos , Femenino , CesáreaRESUMEN
A 2-year-old female Vietnamese potbellied pig was referred to the Large Animal Teaching Hospital at the Ontario Veterinary College for anoplasty and rectovaginal fistula repair. The presence of atresia ani and rectovaginal fistula had been previously diagnosed. Contrast radiography was used to confirm the diagnosis and determine the position of the fistula and terminal rectum. Under general anesthesia, the urethra was catheterized. An incision was made at the anatomic location of the anus, the rectovaginal fistula was isolated through deep dissection, and a Penrose drain was placed around it for caudal retraction. Transvaginal catheter placement through the fistula and into the rectum assisted with anatomic location. Once the urogenital and gastrointestinal tracts were clearly identified, the fistula was transected as close to the vaginal cavity as possible. The vaginal defect was sutured, and the fistula tract was mobilized 90° and sutured to the skin, creating the anal canal. Postoperative complications included constipation and cystitis. The gilt passed feces 5 d after surgery and was discharged on Day 11 of hospitalization. Normal urination and defecation were observed at the time, and fecal incontinence was resolved. Six months after surgical intervention, the gilt remained continent and no complications were reported. Key clinical message: Anoplasty and rectovaginal fistula repair were completed successfully in a gilt. Preservation of the fistula and its use during anal reconstruction may provide an internal anal sphincter and may be associated with improved continence.
Anoplastie et réparation de la fistule recto-vaginale chez une cochette avec atrésie anale : rapport de cas. Une femelle cochon vietnamien de 2 ans a été référée au Large Animal Teaching Hospital du Ontario Veterinary College pour une anoplastie et réparation d'une fistule recto-vaginale. La présence d'une atrésie anale et d'une fistule recto-vaginale avait déjà été diagnostiquée. Une radiographie de contraste a été utilisée pour confirmer le diagnostic et déterminer la position de la fistule et du rectum terminal. Sous anesthésie générale, l'urètre a été cathétérisé. Une incision a été faite à l'emplacement anatomique de l'anus, la fistule recto-vaginale a été isolée par dissection profonde et un drain de Penrose a été placé autour d'elle pour la rétraction caudale. Le placement d'un cathéter transvaginal à travers la fistule et dans le rectum a aidé avec la localisation anatomique. Une fois les voies urogénitale et gastro-intestinale clairement identifiées, la fistule a été sectionnée aussi près que possible de la cavité vaginale. Le défaut vaginal a été suturé et le trajet de la fistule a été mobilisé à 90° et suturé à la peau, créant le canal anal. Les complications postopératoires incluaient la constipation et la cystite. La cochette a expulsé des matières fécales 5 jours après la chirurgie et a obtenu son congé le 11e jour d'hospitalisation. Une miction et une défécation normales ont été observées à ce moment-là, et l'incontinence fécale a été résolue. Six mois après l'intervention chirurgicale, la cochette présentait encore de la continence urinaire et aucune complication n'a été signalée.Message clinique clé :L'anoplastie et la réparation de la fistule recto-vaginale ont été réalisées avec succès chez une cochette. La préservation de la fistule et son utilisation lors de la reconstruction anale peuvent fournir un sphincter anal interne et peuvent être associées à une meilleure continence.(Traduit par Dr Serge Messier).
Asunto(s)
Ano Imperforado , Procedimientos Quirúrgicos del Sistema Digestivo , Enfermedades de los Porcinos , Humanos , Femenino , Porcinos , Animales , Fístula Rectovaginal/cirugía , Fístula Rectovaginal/veterinaria , Recto/cirugía , Ano Imperforado/cirugía , Ano Imperforado/veterinaria , Procedimientos Quirúrgicos del Sistema Digestivo/veterinaria , Canal Anal/anomalías , Canal Anal/cirugíaRESUMEN
OBJECTIVES: The study aimed to demonstrate the performance of anal atresia ultrasound screening in the second trimester and to describe associated experiences in a primary care fetal medicine clinic. MATERIALS AND METHODS: We retrospectively analyzed the medical records of fetuses who underwent a second-trimester screening at the Taiji clinic between November 2019 and May 2022. Fisher's exact test was conducted to investigate potential risk factors. RESULTS: There were 28 459 fetuses screened in our clinic during the study period; eventually, 6 cases were diagnosed with anal atresia after birth. The incidence of anal atresia in our sample was 2.11 in 10 000. Based on our findings, potential risk factors significantly associated with anal atresia included: multiple pregnancies (p-value = 0.0185) and in-vitro fertilization (p-value = 0.038). Half of the anal atresia cases were associated with abnormalities affecting other organ systems, most frequently the genitourinary system (66.7%) and cardiovascular system (66.7%), especially persistent left superior vena cava (2 cases). CONCLUSION: Anal atresia is a malformation that requires extensive care; the clinical management after the prenatal discovery of its signs should include testing for chromosomal abnormalities and close monitoring of the amniotic fluid volume. Therefore, prenatal ultrasound screening for anal atresia in the second trimester is critical, particularly in the cases of multiple and IVF pregnancies, and multiple abnormalities. The fetuses with ultrasound signs of anal atresia should be followed at a later gestational period and referred to a specialized institution for postnatal management planning and parental counseling.
Asunto(s)
Ano Imperforado , Embarazo , Femenino , Humanos , Segundo Trimestre del Embarazo , Estudios Retrospectivos , Ultrasonografía Prenatal/métodos , Vena Cava Superior , Diagnóstico PrenatalRESUMEN
BACKGROUND: Limited diagnostic capabilities, resources and health worker skills have deterred the advancement of birth defects surveillance systems in most low- and middle-income countries (LMICs). Empowering health workers to identify and diagnose major external birth defects (BDs) is crucial to establishing effective hospital-based BD surveillance. Makerere University-Johns Hopkins University (MU-JHU) Research Collaboration BD Surveillance System consists of three diagnostic levels: (1) surveillance midwives, (2) MU-JHU clinical team, and (3) U.S. Centers for Disease Control and Prevention (CDC) birth defects subject matter experts (SMEs) who provide confirmatory diagnosis. The diagnostic concordance of major external BDs by surveillance midwives or MU-JHU clinical team with CDC birth defects SMEs were estimated. METHODS: Study staff went through a series of trainings, including birth defects identification and confirmation, before surveillance activities were implemented. To assess the diagnostic concordance, we analyzed surveillance data from 2015 to 2021 for major external BDs: anencephaly, iniencephaly, encephalocele, spina bifida, craniorachischisis, microcephaly, anophthalmia/microphthalmia, anotia/microtia, cleft palate alone, cleft lip alone, cleft lip with cleft palate, imperforate anus, hypospadias, talipes equinovarus, limb reduction, gastroschisis, and omphalocele. Positive predictive value (PPV) as the proportion of BDs diagnosed by surveillance midwives or MU-JHU clinical team that were confirmed by CDC birth defects SMEs was computed. PPVs between 2015 and 2018 and 2019-2021 were compared to assess the accuracy of case diagnosis over time. RESULTS: Of the 204,332 infants examined during 2015-2021, 870 infants had a BD. Among the 1,245 BDs identified, 1,232 (99.0%) were confirmed by CDC birth defects SMEs. For surveillance midwives, PPV for 7 of 17 BDs was > 80%. For the MU-JHU clinical team, PPV for 13 of 17 BDs was > 80%. Among surveillance midwives, PPV improved significantly from 2015 to 2018 to 2019-2021, for microcephaly (+ 50.0%), cleft lip with cleft palate (+ 17.0%), imperforate anus (+ 30.0%), and talipes equinovarus (+ 10.8%). Improvements in PPV were also observed among MU-JHU clinical team; however, none were significant. CONCLUSION: The diagnostic accuracy of the midwives and clinical team increased, highlighting that BD surveillance, by front-line health care workers (midwives) in LMICs is possible when midwives receive comprehensive training, technical support, funding and continuous professional development.