Surgical Management of an Obstructive Mullerian Anomaly in a Patient with Anorectal Malformation.
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ABSTRACT:
SUBMITTER: Theodorou CM
PROVIDER: S-EPMC8372188 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description: Not available
| S-EPMC10870250 | biostudies-literature
Project description:Management of patients with anorectal melanoma is still controversial. To reach a rationale therapeutic approach, we reviewed our experience obtained over the past decade. In all, 19 consecutive patients with the diagnosis of anorectal melanoma were included in this retrospective survey. Details of the patients' presentation, symptoms, tumour size and histology and tumour state were recorded, and the primary therapeutic procedures were evaluated in detail. The size of the tumours ranged between 0.5 and 7 cm in diameter. The median tumour thickness was 10 mm (range 0.6-40 mm). At diagnosis, six of 19 patients already presented with either regional or distant metastases. The remaining 13 patients were treated with curative intend, either by abdomino-perineal resection (APR) or wide local excision (WLE). The form of operative therapy, however, had no impact on overall survival. Nevertheless, the incidence of local recurrences was lower after APR even for patients with less favourable tumours. In conclusion, WLE alone is not sufficient for local tumour control of thick anorectal melanoma.
| S-EPMC2376860 | biostudies-other
Project description:Persistent Müllerian duct syndrome (PMDS) is a rare clinically and genetically overlapping disorder caused by mutations in the anti-Müllerian hormone (AMH) gene or the anti-Müllerian hormone receptor type 2 (AMHR2) gene. Affected individuals present uterus and tubes in normally virilized males and are discovered unexpectedly during other surgeries. Since it is rare and complex, a definitive clinical diagnosis can be missed, and there are no guidelines regarding how to deal with the uterus. In the present study, exome sequencing and Sanger verification were performed for causal variants in 12 PMDS patients. Preoperative diagnoses were made by positive exome sequencing in 8 patients. Of them, 7 patients evoked on the basis of ultrasound indicating bilateral testes on the same side of the body. Twelve different AMH variants (2 frameshift/nonsense, 1 deletion, 8 missense, and 1 in-frame) in 9 patients and 6 different AMHR2 variants (5 missense and 1 splicing) in 3 patients were identified. Seven variants were classified as "pathogenic" or "likely pathogenic", and 4 of them were novel. All but two patients with AMH defects showed low serum AMH concentrations, but all patients with AMHR2 defects showed elevated AMH levels. During surgery, an abnormal vas deferens was observed in half of the patients. Eight patients underwent orchidopexy with uterine preservation. Of them, 2 patients presented complications including irreducible cryptorchidism, and 3 patients developed Müllerian remnant cysts. Three patients underwent subtotal hysterectomy. Of them, one patient had complication of injury to the vas deferens, and one had hemorrhage after operation. This is the first report of PMDS involving a large Chinese population. The present study not only expands the variation spectrum but also provides clinical experience about the management of the uterus.
| S-EPMC8788598 | biostudies-literature
Project description:One hundred and five patients of surgical obstructive jaundice were admitted to Army Hospital, Delhi from July 1991 to June 1994. Patients were investigated as per the diagnostic protocol. The causes of obstruction were choledocholithiasis (24 patients), periampullary carcinoma and carcinoma head of pancreas (32 patients), carcinoma gall bladder and cholangiocarcinoma (11 patients each). The procedures performed to relieve obstructive jaundice in 89 cases included choledochojejunostomy (17), pancreato-duodenectomy (15), hepaticojejunostomy (15), choledocholithotomy (12) and choledochoduodenostomy (12). Mortality was 7 per cent in pancreatoduodenectomy and 8 per cent in palliative procedures.
| S-EPMC5530282 | biostudies-other
Project description: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.
| S-EPMC7152527 | biostudies-literature
Project description: Not available
| S-EPMC10569272 | biostudies-literature
Project description:Introductionand importance: Congenital cystic adenomatoid malformation (CCAM) is a rare cystic lesion in the lungs. CCAM might present in the early neonatal period with symptoms of respiratory distress.Case presentationA 2-year-old girl was admitted to our Pediatric Intensive Care Unit with signs of severe respiratory distress. She had been diagnosed with CCAM since she was three months old. She also had undergone several procedures such as thoracotomy and decortication since then, but she still suffered some episodes of pulmonary infection. In this admission, her computerized thoracic tomography revealed a pleuropulmonary blastoma (PPB).Clinical discussionAn obstruction of blood outflow from the left ventricle could happen when an intrathoracic mass exists, leading to a decrease of cardiac output and resulting in an obstructive shock, which could be fatal. One of the malignancy types commonly occurring is pleuropulmonary blastoma (PPB), which has a poor prognosis. Early detection on CCAM can be done by prenatal ultrasound.ConclusionObstructive shock is one of complication that might occur in pleuropulmonary blastoma.
| S-EPMC8340041 | biostudies-literature
Project description:The objective of this study was to compare the prevalence of genetic disorders in anorectal malformation (ARM) patients with upper limb anomalies to that in ARM patients with other associated anomalies. A retrospective case study was performed in two pediatric surgery centers. All patients born between 1990 and 2012 were included. VACTERL (vertebral defects (V), anal atresia (A), cardiac malformations (C), tracheoesophageal fistula with esophageal atresia (TE), renal dysplasia (R), and limb anomalies (L)) was defined as at least three components present. We included 700 ARM patients: 219 patients (31 %) had isolated ARM, 43 patients (6 %) had a major upper limb anomaly, and 438 patients (63 %) had other associated anomalies. The most prevalent upper limb anomalies were radial dysplasia (n?=?12) and hypoplastic thumb (n?=?11). Ten of the 43 patients (23 %) with an upper limb anomaly were diagnosed with a genetic disorder-nine also met the VACTERL criteria-vs. 9 % of ARM patients with other anomalies (p?=?0.004, chi-squared test).Genetic disorders are twice as frequently diagnosed in ARM patients with upper limb anomalies than in those with other anomalies. As they also frequently meet the VACTERL criteria, it is important to consider VACTERL as a diagnosis per exclusionem. Genetic counseling is certainly warranted in these patients.• Anorectal malformations (ARMs) often co-occur with other congenital anomalies, including upper limb anomalies, mainly of pre-axial origin. • Co-occurrence of ARMs and upper limb anomalies is seen in disorders such as Townes-Brocks syndrome, Fanconi anemia, and VACTERL association. What is New: • ARM patients with a major upper limb anomaly-with or without other congenital anomalies-have a twofold greater chance of a genetic disorder than have non-isolated ARM patients without upper limb anomalies. • Not all upper limb anomalies in ARM patients are part of the VACTERL association; a workup for genetic evaluation is proposed.
| S-EPMC4799257 | biostudies-literature
Project description:PurposeWe examined the total prevalence, trends in prevalence, and age-specific mortality among individuals with anorectal malformation (ARM) METHODS: We conducted a retrospective cohort study using data from 24 population- and hospital-based birth defects surveillance programs affiliated with the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) from 18 countries and for births from 1974 to 2014. We estimated pooled and program-specific total prevalence per 10,000 total births. Poisson regression was used to assess time trends in prevalence from 2001 to 2012 when most programs contributed data. We calculated selected age-specific proportions of deaths, stratified by case status RESULTS: The pooled total prevalence of ARM was 3.26 per 10,000 total births (95% Confidence Interval = 3.19, 3.32) for birth years 1974-2014. About 60% of cases were multiple or syndromic. Prevalence of multiple, syndromic, and stillborn cases decreased from 2001 to 2012. The first week mortality proportion was 12.5%, 3.2%, 28.3%, and 18.2% among all, isolated, multiple, and syndromic cases, respectively CONCLUSIONS: ARM is relatively rare, with multiple and syndromic cases showing decreasing prevalence during the study period. Mortality is a concern during the first week of life, and especially among multiple and syndromic cases. Our descriptive epidemiological findings increase our understanding of geographic variation in the prevalence of ARM and can be used to plan needed clinical services. Exploring factors influencing prevalence and mortality among individuals with ARM could inform future studies.
| S-EPMC9898144 | biostudies-literature
Project description:IntroductionMullerian duct cysts (MDCs) are a rare diagnosis in adulthood, primarily found in men aged 20 to 40 due to reproductive or urinary symptoms. Asymptomatic patients are generally observed. Treatment of symptomatic patients varies widely based on the presentation. Small cysts can be treated with transurethral and percutaneous methods due to a lower risk of damage to surrounding structures. However, larger and more complicated cysts are often treated using open or laparoscopic approaches.Case descriptionOur case presents a 38-year-old male with worsening obstructive lower urinary tract symptoms and recurrent episodes of acute urinary retention. Preliminary diagnosis of a MDC was made using CT and MRI. After failing initial minimally invasive therapy, the patient was treated with definitive robotic-assisted laparoscopic surgical excision of the cyst. At the one-month follow-up, the patient reported no complications and resolution of symptoms. As shown by this case, robotic surgical methods may be used as a more precise approach, reducing the risk of damage to vessels, nerves, and structures within the abdomen and pelvis.ConclusionsAsymptomatic patients can be observed. Treatment of symptomatic patients varies widely based on the presentation. Small cysts can be treated with transurethral and percutaneous methods due to a lower risk of damage to surrounding structures. Larger, more complicated cysts are often treated using open, laparoscopic, or robotic surgical methods. More precise approaches, including robotic methods, can reduce the risk of damage to vessels, nerves, and structures within the abdomen and pelvis.
| S-EPMC9547162 | biostudies-literature