COG6-CDG: Novel variants and novel malformation.

BACKGROUND: Deficiency of Conserved Oligomeric Golgi (COG) subunits (COG1-8) is characterized by both N- and O-protein glycosylation defects associated with destabilization and mislocalization of Golgi glycosylation machinery components (COG-CDG). Patients with COG defects present with neurological and multisystem involvement and possible malformation occurrence. Eighteen patients with COG6-CDG (COG6 mutations) were reported to date. We describe a patient with COG6-CDG with novel variants and a novel clinical feature namely a congenital recto-vaginal fistula. METHODS: In-depth serum N- and O-glycosylation structural analyses were conducted by MALDI-TOF mass spectrometry. COG6 variants were identified by a gene panel and confirmed by Sanger sequencing. RESULTS: This female newborn presented with facial dysmorphism, distal arthrogryposis and recurrent stool discharges per vaginam. A double-contrast barium-enema X-ray study revealed a dehiscence (approximately 5 mm) at the anterior wall of the rectal ampoule communicating with the vagina consistent with a recto-vaginal fistula. She had developmental delay, corpus callosum dysgenesis, liver and gastrointestinal involvement, hyperthermia episodes and early demise. Serum N- and O-glycosylation analyses pointed to a profound Golgi disarrangement. We identified two novel variants in COG6: a deletion of 1 bp mutation c.823delA creating a shift in the reading frame and a premature stop codon and a 3 bp deletion (c.1141_1143delCTC) producing an in-frame deletion of 1 amino acid. CONCLUSION: The congenital recto-vaginal fistula is a rare type of anorectal malformation that, to our knowledge, has not been reported in patients with a COG6 defect nor in patients with other COG defects. This study broadens COG6-CDG genetic landscape and spectrum of malformations.

Depression among women with obstetric fistula, and pelvic organ prolapse in northwest Ethiopia.

BACKGROUND: The prevalence of depression is not well studied among women with pelvic floor disorders. Hence, this study aimed to determine the prevalence of depression and its associated factors among women with pelvic floor disorders. METHODS: A cross-sectional study was conducted among 306 women with one or more of the advanced pelvic floor disorders who attended at the gynaecologic outpatient clinic of Gondar university referral hospital in the six months data collection period. Women who complained of urinary or faecal incontinence or protruding mass per vagina were assessed and staged accordingly. Eligible women i.e. those with advanced pelvic organ prolapse or obstetric fistula were included consecutively. A structured questionnaire was used to obtain socio-demographic data and medical histories for all consenting women. Interviews were done by a female midwife nurse. Depression measures were obtained using the Beck's Depression Inventory (BDI) tool administered by the midwife nurse after intensive training. Data were entered into a computer using Epi Info version 3. 5.3, and then exported to SPSS version 20 for analysis. Multiple logistic regressions were fitted and Odds ratios with 95% confidence intervals were calculated to identify associated factors. RESULTS: Of the 306 women interviewed, 269 had advanced pelvic organ prolapse (stages 3 and 4), 37 had obstetric fistula. All four women (100%) with both faecal and urinary incontinence, 97.0% those with urinary incontinence due to obstetric fistula and 67.7% of those with advanced pelvic organ prolapse (stages 3 and 4) had symptoms of depression. Depression was significantly associated with age 50 years or older (P < 0.01), marital status (P < 0.05), history of divorce (p < 0.01), self perception of severe problem (P < 0.05), and having stage 3 pelvic organ prolapse (P < 0.01). CONCLUSION: Women with advanced pelvic organ prolapse, and obstetric fistula had high prevalence of depressive symptoms. A holistic management approach, including mental health care is recommended for women having such severe forms of pelvic floor disorders.

[Surgical complications of the diverticular disease. A rare case of sigmoid-vaginal fistula]. / Le complicanze chirurgiche della malattia diverticolare: un raro caso di fistola sigmoido-vaginale.

The Authors report on a rare case of diverticular disease complicated by a sigmoid- vaginal fistula with personal considerations based on a review of literature. A 75 year old patient becomes to our observation suffering the lost of smelly vaginal secretions without fever or abdominalgia. In anamnesis hysterectomy cholecystectomy appendectomy and visceral adhesions lysis. Colonoscopy RX barium enema, gynaecological examination, vaginal buffer show diverticulis of colon sigma with sigmoid-vaginal fistula. After laparotomy, visceral adhesions lysis, it was done sigmoid- vaginal fistula resection with healing. Diverticular disease is a XX century pathology with incidence (for some authors) of 50% of population. Symptomatic forms affect 30-50% of patients (variable percentage based on age); the 1% of these need surgery. The colonic anatomical-functional disorder is the principal cause of diverticular disease that recognize the main localization in colon-sigma. Diverticulitis with pericolic inflammation are frequent complications; possible evolutions are local tamponed peritonitis, mechanical intestinal occlusion, hemorrhage from colonic wall and fistulas. Sigmoid-vaginal fistula is the most frequent in women previously treated with laparohysterectomy. The colonoscopy and RX barium enema are gold standard for instrumental diagnosis; the vaginography is diriment, urography excludes urological diseases. The surgical treatment is the fistula resection, with or without colonic resection. In consideration of the necessity of conservative surgery and on the basis of this case, the authors suggest, if it's possible, the simple fistula resection, although the literature report an high number of relapses.

Endoscopic placement of a Foley catheter across a stricture and rectovaginal fistula to perform a barium enema.

Evaluation of enteric fistulas is often best performed with barium contrast studies. Clinical situations that preclude the satisfactory installation of barium decrease the yield of the study. A case is presented of a 59-yr-old female with stage III-B cervical carcinoma and a known rectovaginal fistula with an adjacent sigmoid colon stricture. An additional more proximal, enteric fistula was suspected. Definitive preoperative knowledge of the existence or absence of this fistula would have shortened the duration of a planned palliative intervention. The rectovaginal fistula and stricture precluded adequate barium and air installation for contrast study. Colonoscopy was unsuccessful. We have developed a combined technique in which the endoscopic placement of a semirigid guidewire allowed placement of a Foley catheter across the fistula and stricture. Successful barium study was performed. Intraoperative time and hospital stay were shortened.

Duplication of the colon: varied presentations of a rare congenital anomaly.

Duplication of the colon is a rare congenital anomaly which may produce diagnostic difficulties for both clinician and radiologist. We report three patients who illustrate the spectrum of clinical and radiographic features which may be encountered. Radiology is essential in assessing the full extent of this condition including its various presentations, associated congenital anomalies, and anticipated complications.