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1.
Pediatr Med Chir ; 43(2)2021 Oct 21.
Artigo em Inglês | MEDLINE | ID: mdl-34672177

RESUMO

The caecum is one of the rarest sites of intestinal duplication cysts. The most common symptomatology includes vomiting, abdominal pain, abdominal distention, palpable mass and rectal bleeding. Most of the duplications are diagnosed within the first two years of life, including prenatal diagnosis. Only few cases of caecal duplication have been reported in the literature up to the present day. We are going to present a case of a five-years old girl with caecum duplication who reached our ward due to abdominal distension with no other symptoms.


Assuntos
Cistos , Anormalidades do Sistema Digestório , Dor Abdominal , Ceco/diagnóstico por imagem , Pré-Escolar , Cistos/diagnóstico por imagem , Feminino , Humanos , Vômito
2.
Orphanet J Rare Dis ; 16(1): 368, 2021 08 19.
Artigo em Inglês | MEDLINE | ID: mdl-34412674

RESUMO

BACKGROUND: Alimentary tract duplications are rare congenital lesions, and only 2-8% of them are located in the stomach. Gastric duplications (GD) can lead to severe adverse events. Thus, surgical resection is required once the disease is diagnosed. The main purpose of this study is to describe the clinical features of gastric duplications and to provide evidence for the diagnosis and treatment. METHODS: A retrospective review of eight gastric duplications at two medical centers Peking University People's Hospital (PKUPH) and Shandong Provincial Hospital from 2010 to 2020 was conducted. Furthermore, the literature search was also conducted by retrieving data from PubMed, EMBASE and Cochrane Library databases from the date of the database inception to January 15, 2021. RESULTS: Eight patients who were diagnosed as gastric duplications and 311 published records were included in this study. In all, 319 patients were identified: Vomiting and abdominal pain were the most frequent clinical presentations among juveniles and adults respectively. There was no difference in gender distribution (F: 53.16% vs M: 46.84%), and the cystic gastric duplications were the most common type of the gastric duplications (87.04%). More than half (53.30%) of included cases were located in the greater curvature of stomach. CONCLUSIONS: Gastric duplications could present with a wide spectrum of symptomatology, which might be misdiagnosed easily as other diseases. For cystic gastric duplications, the optimal treatment was a complete surgical removal. But conservative treatment might be an alternative strategy for tubular gastric duplications.


Assuntos
Anormalidades do Sistema Digestório , Adulto , Trato Gastrointestinal , Humanos , Estudos Retrospectivos , Estômago/cirurgia
3.
Afr J Paediatr Surg ; 18(3): 160-163, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34341201

RESUMO

Background: The falling of Umbilical stump occurs by 7-15 days of age. The healing of umbilical stump may be complicated by Umbilical Granuloma. It is often treated by chemical cauterisation which require repeated applications and may lead to local or systemic complications. Common salt by way of its dessicative property may help in treatment of Umbilical Granuloma. Objective: The objective of the study is to assess the role of common salt application in umbilical granuloma. Materials and Methods: This is retrospective study over 3 years from a pediatric surgery unit in Northern India. The study subjects were infants less than 10 weeks of age who presented with umbilical granuloma. The method of salt application was 1 pinch of common salt for 1 hour twice a day for 3 consecutive days. The babies were assessed at day 5th for resolution. The success was defined as thrice resolution after 3 cycles. The baseline demographic details were taken and the association of success of treatment was analyzed. Results: A total of 36 infants were given treatment in form of common salt application for treatment of umbilical granuloma. The success of around 96% and the cases which presented early responded well. Most of the cases resolved after 3 cycles of treatment. Conclusion: The common salt application is effective in treatment of granuloma without any side effects.


Assuntos
Anormalidades do Sistema Digestório , Granuloma , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Resultado do Tratamento , Cicatrização
4.
Pan Afr Med J ; 38: 353, 2021.
Artigo em Francês | MEDLINE | ID: mdl-34367432

RESUMO

Gastrointestinal duplications are defined as tubular or cystic malformations of a segment of the digestive tract, from the oral cavity to the anus. They are rare. Prenatal diagnosis ca be made in patients with a voluminous cyst. We here report the case of a 33-year-old primiparous woman with no previous medical-surgical history who was poorly screened. She just underwent ultrasound scan at 8 weeks of amenorrhea (WA). During the third trimester of pregnancy ultrasound showed anechoic nonvascularized cyst measuring 3cm located in the upper pelvis. It was anteriorly located; the kidneys and the bladder were not involved. Then magnetic resonance imaging (MRI) of the fetus was performed to better interpret ultrasound results. This showed well-defined cyst in contact with the small bowel loops along the mesenteric side. The diagnosis of gastrointestinal duplication was strongly suspected. C-section was done at 39 weeks' gestation because the woman had a history of primary infertility (7 years). Delivery proceeded without complications. Postnatal ultrasound results reinforced the hypothesis of gastrointestinal duplication, showing a cystic mass with a multi-bulkhead-like structure at the level of the left hypochondrium, measuring 45 mm x 19 mm, which could be consistent with gastrointestinal duplication. The new-born was referred to the Paediatric Surgery for better management and surgery in the first 6 months of life. The discovery of fetal anechoic cyst poses a challenge in etiology and diagnosis on the one hand and of follow-up and postnatal management on the other hand.


Assuntos
Cistos/diagnóstico por imagem , Anormalidades do Sistema Digestório/diagnóstico por imagem , Ultrassonografia Pré-Natal , Adulto , Cistos/congênito , Cistos/cirurgia , Anormalidades do Sistema Digestório/cirurgia , Feminino , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Gravidez , Diagnóstico Pré-Natal/métodos
5.
A A Pract ; 15(8): e01506, 2021 Aug 04.
Artigo em Inglês | MEDLINE | ID: mdl-34347635

RESUMO

Neurologic conditions without prenatal optimization can pose anesthetic and obstetrical challenges. We present a case of Currarino syndrome; an autosomal dominant triad of agenesis of the sacrum, anterior sacral meningocele (ASM) with sacral teratomas, and anorectal stenosis; diagnosed during pregnancy; and the subsequent anesthetic considerations. The location, size, and risk of rupture of the ASM can create obstacles to delivery. Eligibility for neuraxial anesthesia should be made on a case-by-case basis with risk-benefit analysis, and deficits should be documented allowing prompt identification and intervention should complications arise. Multidisciplinary team coordination is vital to help facilitate maternal safety.


Assuntos
Anormalidades do Sistema Digestório , Meningocele , Canal Anal/anormalidades , Humanos , Meningocele/diagnóstico por imagem , Meningocele/cirurgia , Período Periparto , Reto/anormalidades , Sacro/anormalidades , Sacro/diagnóstico por imagem , Sacro/cirurgia , Siringomielia
6.
Pediatr Surg Int ; 37(12): 1773-1781, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34462793

RESUMO

PURPOSE: This study aimed to present ten cases of Currarino syndrome, study their postoperative complications and prognosis, and analyze whether patient background and clinical factors influenced outcomes. METHODS: Ten patients with Currarino syndrome who were followed up at our institution between 2004 and 2020 were enrolled. Patient records were retrospectively reviewed for clinical details, postoperative complications, and long-term outcomes. RESULTS: The incidence of early postoperative complications was 80%, most of which were transient dysuria. The dysuria significantly developed in the higher normal sacral vertebra (p = 0.024) and the complete type of Currarino syndrome (p = 0.033). Later, intractable constipation requiring rectal irrigation and intractable dysuria requiring clean intermittent catheterization occurred in 40% and 30% of the patients, respectively. There was a tendency for tethered cord syndrome (p = 0.076), and the height of the normal sacral vertebra (p = 0.071) was related to intractable constipation. The height of the normal sacral vertebra (p = 0.05) and the tumor size on the image (p = 0.012) were significantly higher and larger, respectively, in the group with intractable dysuria than in the group without intractable dysuria. CONCLUSION: Postoperative complications, especially early ones, occur at a high rate. Long-term intractable constipation and dysuria may be influenced by the degree of sacral dysplasia.


Assuntos
Anormalidades do Sistema Digestório , Sacro , Canal Anal/anormalidades , Anormalidades do Sistema Digestório/cirurgia , Humanos , Complicações Pós-Operatórias/epidemiologia , Reto/anormalidades , Reto/cirurgia , Estudos Retrospectivos , Sacro/anormalidades , Sacro/cirurgia , Siringomielia
7.
Pediatr Surg Int ; 37(11): 1607-1612, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34304286

RESUMO

INTRODUCTION: Intestinal malrotation is life-threatening and often presents during infancy with bilious vomiting. The prevalence and presentation among extremely premature infants are unknown. METHODS: We retrospectively reviewed all infants born at less than 28 weeks' gestation diagnosed with symptomatic intestinal malrotation in a tertiary neonatal intensive care unit over a 10-year period (2010-2020). RESULTS: Seven of 514 (1.4%) extremely premature infants developed symptomatic intestinal malrotation during this period. All were non-syndromic. In comparison, the prevalence of symptomatic intestinal malrotation in 7382 infants ≥ 28 weeks' gestation admitted during the same period was 0.2%. Intestinal malrotation was confirmed at laparotomy in all extremely premature infants and six of seven had midgut volvulus. All but one presented with marked abdominal distension; none had bilious vomiting and only three had bilious gastric aspirates. A subacute onset with non-specific features such as recurrent apnoea and bradycardia, feed intolerance, and intermittent abdominal distension was common. All infants underwent a Ladd procedure. Two required extensive bowel resection resulting in short gut syndrome and three underwent further surgery for adhesive small bowel obstruction. One patient died at 10 months of age from respiratory failure but the others were well 1-3 years later. CONCLUSIONS: Symptomatic intestinal malrotation in extremely premature infants has a relatively high prevalence. It may present with marked abdominal distension without bilious vomiting, demanding a high index of suspicion. An atypical presentation, potential alternative abdominal pathologies, coexisting comorbidities, and concerns about survival in these fragile babies may deter the surgeon despite the opportunity of a good outcome.


Assuntos
Anormalidades do Sistema Digestório , Obstrução Intestinal , Volvo Intestinal , Pré-Escolar , Anormalidades do Sistema Digestório/complicações , Anormalidades do Sistema Digestório/epidemiologia , Anormalidades do Sistema Digestório/cirurgia , Humanos , Lactente , Lactente Extremamente Prematuro , Recém-Nascido , Volvo Intestinal/complicações , Volvo Intestinal/diagnóstico , Volvo Intestinal/epidemiologia , Estudos Retrospectivos
8.
J Clin Ultrasound ; 49(8): 834-837, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34235755

RESUMO

Unlike classic exstrophy, covered bladder exstrophy is a rare variant characterized by a cycling bladder and intact abdominal wall. We present a case of covered bladder exstrophy diagnosed prenatally and associated persistent cloaca (PC) noted only after delivery. This case report demonstrates that prenatal diagnosis of covered bladder exstrophy is possible and PC can present without any abdominal cysts, bowel, or renal findings. Covered bladder exstrophy should be considered in the differential of cystic protrusion of the bladder to the abdominal wall.


Assuntos
Extrofia Vesical , Anormalidades do Sistema Digestório , Animais , Extrofia Vesical/diagnóstico por imagem , Cloaca/diagnóstico por imagem , Feminino , Humanos , Gravidez , Diagnóstico Pré-Natal , Ultrassonografia Pré-Natal
11.
Birth Defects Res ; 113(15): 1161-1165, 2021 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-34156759

RESUMO

BACKGROUND: Currarino syndrome (CS) is a rare genetic condition characterized by the association of three major clinical signs: anorectal malformation (ARM), sacro-coccygeal bone defects, and presacral mass. Different kinds of ARM can be present such as anteriorly placed anus, imperforate anus, anorectal stenosis, rectal duplication, and fistulae. The presacral mass can be a benign teratoma, a dermoid or neurenteric cyst, anterior meningocele or hamartoma. Females are more frequently affected and usually present with associated gynecologic and urinary tract problems. CS is considered an autosomal dominant trait, with reduced penetrance and variable expressivity. CS is associated with mutations in the MNX1 gene (motor neuron and pancreas homeobox-1, previously known as HLXB9) mapped to chromosome 7q36. Heterozygous loss-of-function mutations in the coding sequence of MNX1 gene have been reported in nearly all familial CS cases and in approximately 30% of CS sporadic patients. CASE: Here, we present the case of a woman with features of CS carrying a mosaic mutation in the coding region of MNX1 gene. This is the only reported case of a CS diagnosis in which the mutation is present in less than 50% of cells. CONCLUSION: The lower detection rate of MNX1 mutations in sporadic cases could similarly be explained by somatic mosaicism, mutations occurring outside the coding regions, or genetic heterogeneity.


Assuntos
Canal Anal , Genes Homeobox , Adulto , Canal Anal/anormalidades , Anormalidades do Sistema Digestório , Feminino , Proteínas de Homeodomínio/genética , Humanos , Mutação/genética , Reto/anormalidades , Sacro/anormalidades , Siringomielia , Fatores de Transcrição/genética
13.
J Coll Physicians Surg Pak ; 30(6): 740-742, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34102795

RESUMO

Multiple small bowel atresia is a relatively uncommon cause of intestinal obstruction in neonates.  About one-third of the neonatal intestinal obstruction is caused by intestinal atresia. As suggested by Louw and Barnard, the vascular accident in utero is the principal reason, resulting in bowel atresia.1 The condition presents soon after birth, with bilious vomiting and abdominal distension, requiring emergency surgical intervention. A subtype of small bowel atresia (type IV), which presents with involvement of multiple segments, is unique due to the difficulties in management, accompanied by a variety of postoperative morbidities, which are highlighted in this case. The choice lies between resection of all the atretic segments with resultant single anastomosis and conservation with anastomoses of multiple small bowel segments involving meticulous repair by fine sutures, taking care to maintain luminal patency. The dilemma of whether to conserve the atretic segments of bowel, which is a time consuming procedure but preserves the bowel length or to proceed with excision of the atretic bowel segments, accepting the likelihood of short bowel, in order to provide a quick, safe and stable single anastomosis in a timely manner, is a valid challenge. The background of limited resource setting also need to be taken into consideration. Key Words: Atresia, Neonates, Bowel segments, Anastomosis.


Assuntos
Anormalidades do Sistema Digestório , Atresia Intestinal , Obstrução Intestinal , Anastomose Cirúrgica , Humanos , Recém-Nascido , Atresia Intestinal/cirurgia , Obstrução Intestinal/etiologia , Obstrução Intestinal/cirurgia , Intestino Delgado/cirurgia
14.
Arch Dis Child Fetal Neonatal Ed ; 106(6): 635-642, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34112720

RESUMO

AIM: Children with congenital gastrointestinal malformations may be at risk of neurodevelopmental impairment due to challenges to the developing brain, including perioperative haemodynamic changes, exposure to anaesthetics and postoperative inflammatory influences. This study aggregates existing evidence on neurodevelopmental outcome in these patients using meta-analysis. METHOD: PubMed, Embase and Web of Science were searched for peer-reviewed articles published until October 2019. Out of the 5316 unique articles that were identified, 47 studies met the inclusion criteria and were included. Standardised mean differences (Cohen's d) between cognitive, motor and language outcome of patients with congenital gastrointestinal malformations and normative data (39 studies) or the studies' control group (8 studies) were aggregated across studies using random-effects meta-analysis. The value of (clinical) moderators was studied using meta-regression and diagnostic subgroups were compared. RESULTS: The 47 included studies encompassed 62 cohorts, representing 2312 patients. Children with congenital gastrointestinal malformations had small-sized cognitive impairment (d=-0.435, p<0.001; 95% CI -0.567 to -0.302), medium-sized motor impairment (d=-0.610, p<0.001; 95% CI -0.769 to -0.451) and medium-sized language impairment (d=-0.670, p<0.001; 95% CI -0.914 to -0.425). Patients with short bowel syndrome had worse motor outcome. Neurodevelopmental outcome was related to the number of surgeries and length of total hospital stay, while no relations were observed with gestational age, birth weight, age and sex. INTERPRETATION: This study shows that children with congenital gastrointestinal malformations exhibit impairments in neurodevelopmental outcome, highlighting the need for routine screening of neurodevelopment during follow-up.


Assuntos
Anormalidades do Sistema Digestório , Trato Gastrointestinal/anormalidades , Transtornos do Neurodesenvolvimento , Criança , Desenvolvimento Infantil , Anormalidades do Sistema Digestório/classificação , Anormalidades do Sistema Digestório/complicações , Anormalidades do Sistema Digestório/epidemiologia , Anormalidades do Sistema Digestório/psicologia , Humanos , Transtornos do Neurodesenvolvimento/classificação , Transtornos do Neurodesenvolvimento/diagnóstico , Transtornos do Neurodesenvolvimento/epidemiologia , Transtornos do Neurodesenvolvimento/etiologia , Medição de Risco
15.
J Pak Med Assoc ; 71(5): 1483-1485, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-34091640

RESUMO

Left-sided abdominal pain is an uncommon presentation of acute appendicitis. When a patient presents with this complaint, appendicitis can be difficult to diagnose, thus resulting in delayed definitive therapy and increased morbidity and mortality. In this report we discuss the case of a middle-aged man, who presented with left-sided abdominal pain, and was diagnosed to be suffering from acute appendicitis along with asymptomatic midgut malrotation.


Assuntos
Apendicite , Anormalidades do Sistema Digestório , Volvo Intestinal , Dor Abdominal/etiologia , Doença Aguda , Apendicite/diagnóstico por imagem , Apendicite/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade
16.
Dev Biol ; 477: 85-97, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34023332

RESUMO

Trachea-esophageal defects (TEDs), including esophageal atresia (EA), tracheoesophageal fistula (TEF), and laryngeal-tracheoesophageal clefts (LTEC), are a spectrum of life-threatening congenital anomalies in which the trachea and esophagus do not form properly. Up until recently, the developmental basis of these conditions and how the trachea and esophagus arise from a common fetal foregut was poorly understood. However, with significant advances in human genetics, organoids, and animal models, and integrating single cell genomics with high resolution imaging, we are revealing the molecular and cellular mechanisms that orchestrate tracheoesophageal morphogenesis and how disruption in these processes leads to birth defects. Here we review the current understanding of the genetic and developmental basis of TEDs. We suggest future opportunities for integrating developmental mechanisms elucidated from animals and organoids with human genetics and clinical data to gain insight into the genotype-phenotype basis of these heterogeneous birth defects. Finally, we envision how this will enhance diagnosis, improve treatment, and perhaps one day, lead to new tissue replacement therapy.


Assuntos
Esôfago/anormalidades , Traqueia/anormalidades , Animais , Anormalidades do Sistema Digestório/diagnóstico , Anormalidades do Sistema Digestório/etiologia , Anormalidades do Sistema Digestório/genética , Modelos Animais de Doenças , Esôfago/embriologia , Humanos , Organoides/embriologia , Traqueia/embriologia
17.
Medicine (Baltimore) ; 100(18): e25772, 2021 May 07.
Artigo em Inglês | MEDLINE | ID: mdl-33950968

RESUMO

RATIONALE: Gastrointestinal tract duplication is a rare congenial anomaly which can be found anywhere along the gastrointestinal tract. While many patients are incidentally diagnosed during operation, in some cases it can present with severe gastrointestinal symptoms. In this case report, the patient presented with signs of toxic megacolon leading to rapid aggravation of inflammatory shock. PATIENT CONCERNS: A 49-day old male infant presented with fever, poor feeding, and severe abdominal distension. DIAGNOSIS: Abdominal ultrasonography was done. During the examination, a foley catheter was inserted through the anus to evaluate bowel patency and enable rectal decompression. The tip of the foley catheter was located in a separate narrower tubular lumen adjacent to the distended rectum. These findings suggested possibility of a tubular duplication cyst of the rectum as the culprit for the bowel obstruction. INTERVENTIONS: The patient underwent emergency laparotomy. Findings showed multiple tubular intestinal duplications involving the ileum, appendix, cecum, descending colon, sigmoid colon and rectum. The true lumen of the rectosigmoid colon was completely collapsed while the adjacent tubular cyst remained severely distended and stool passage was not possible. Decompression of the sigmoid colon was done with loop colostomy with both the wall of the true bowel and enteric cyst forming the colostomy orifice. OUTCOMES: After 40 days of postoperative care, the patient was discharged with no immediate complications. Four months after the initial operation, colostomy take-down and transanal rectal common wall division was done. No complications were observed. LESSONS: To our knowledge, this is the first case to be reported where a rare presentation of intestinal duplication resulted in an acute presentation toxic megacolon. Such emergency cases can be effectively treated with emergency surgical bowel decompression and elective common wall division.


Assuntos
Anormalidades do Sistema Digestório/complicações , Tratamento de Emergência/métodos , Obstrução Intestinal/diagnóstico , Intestinos/anormalidades , Megacolo Tóxico/diagnóstico , Colostomia , Descompressão Cirúrgica/métodos , Anormalidades do Sistema Digestório/diagnóstico , Anormalidades do Sistema Digestório/cirurgia , Humanos , Lactente , Obstrução Intestinal/etiologia , Obstrução Intestinal/cirurgia , Intestinos/diagnóstico por imagem , Intestinos/cirurgia , Laparotomia , Masculino , Megacolo Tóxico/etiologia , Megacolo Tóxico/cirurgia , Resultado do Tratamento , Ultrassonografia
18.
J Hepatobiliary Pancreat Sci ; 28(7): 563-571, 2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33835728

RESUMO

BACKGROUND: Stenting against recurrent biliary obstruction (RBO) after placement of covered metal stent (CMS) for distal malignant biliary obstruction (MBO) is still challenging. This study investigated the feasibility of a novel laser-cut fully CMS with anti-reflux valve in patients with distal MBO refractory to conventional CMS. METHODS: Patients who underwent Duckbill-type metal stent (DMS) placement between June 2019 and May 2020 were included. Early complications, causes of RBO including non-occlusion cholangitis, and time to RBO (TRBO) were evaluated. TRBO of DMS was also compared with that of previous CMS. RESULTS: Thirty patients were included: pancreatic cancer/metastatic lymph nodes in 29 patients/one patient; duodenal stenosis in 13 patients. Technical and functional success were achieved in all patients. Mild cholangitis and mild pancreatitis developed in each one. Median follow-up period was 167 days (range, 23-527 days). RBO occurred in nine patients (30%): sludge formation in four patients, hemobilia in one patient, symptomatic distal stent migration in three patients, and non-occlusion cholangitis in one patient. TRBO of DMS was significantly longer than that of previous CMS (median 224 days vs median 120 days, P = .0025). DMS was successfully removed in all of six patients when re-intervention was needed. CONCLUSIONS: Duckbill-type metal stent might be safe and effective in patients with distal MBO refractory to conventional CMS.


Assuntos
Colestase , Anormalidades do Sistema Digestório , Obstrução Duodenal , Colestase/diagnóstico por imagem , Colestase/etiologia , Colestase/cirurgia , Humanos , Lasers , Stents
19.
Orphanet J Rare Dis ; 16(1): 167, 2021 04 09.
Artigo em Inglês | MEDLINE | ID: mdl-33836786

RESUMO

BACKGROUND: The triad of a presacral mass, sacral agenesis and an anorectal anomaly constitutes the rare Currarino syndrome (CS), which is caused by dorsal-ventral patterning defects during embryonic development. The major causative CS gene is MNX1, encoding a homeobox protein. MAIN BODY: In the majority of patients, CS occurs as an autosomal dominant trait; however, a female predominance observed, implies that CS may underlie an additional mode(s) of inheritance. Often, the diagnosis of CS is established solely by clinical findings, impacting a detailed analysis of the disease. Our combined data, evaluating more than 60 studies reporting patients with CS-associated mutations, revealed a slightly higher incidence rate in females with a female-to-male ratio of 1.39:1. Overall, MNX1 mutation analysis was successful in only 57.4% of all CS patients investigated, with no mutation detected in 7.7% of the familial and 68% of the sporadic patients. Our studies failed to detect the presence of an expressed MNX1 isoform that might explain at least some of these mutation-negative cases. CONCLUSION: Aside from MNX1, other genes or regulatory regions may contribute to CS and we discuss several cytogenetic studies and whole-exome sequencing data that have implicated further loci/genes in its etiology.


Assuntos
Anormalidades do Sistema Digestório , Siringomielia , Canal Anal/anormalidades , Anormalidades do Sistema Digestório/genética , Feminino , Proteínas de Homeodomínio/genética , Humanos , Masculino , Reto/anormalidades , Sacro/anormalidades , Fatores de Transcrição/genética
20.
Surg Radiol Anat ; 43(8): 1395-1400, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33660035

RESUMO

We report a case of reversed rotation (RR) of the midgut, the rarest form of intestinal malrotation (IMR), revealed by a chronic volvulus, in a 42-year-old woman presenting with episodes of abdominal pain occurring after heavy meals. The complete preoperative diagnosis was obtained by contrast-enhanced computed tomography (CT). Classical signs of volvulus were associated with typical findings of RR comprising an unusual position of the third duodenum in front of the mesenteric vessels and a very unusual location of the transverse colon behind these vessels. Complete absence of fixation of the right colon allowed secondary volvulus. A detailed reminder of the embryology of IMR and RR is presented.


Assuntos
Dor Abdominal/etiologia , Dor Crônica/etiologia , Colo Transverso/anormalidades , Anormalidades do Sistema Digestório/diagnóstico , Duodeno/anormalidades , Volvo Intestinal/diagnóstico , Dor Abdominal/diagnóstico , Adulto , Dor Crônica/diagnóstico , Colo Transverso/diagnóstico por imagem , Meios de Contraste/administração & dosagem , Anormalidades do Sistema Digestório/complicações , Duodeno/diagnóstico por imagem , Feminino , Humanos , Volvo Intestinal/complicações , Período Pré-Operatório , Rotação , Tomografia Computadorizada por Raios X
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