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.

Late Bowel Iischemia and Colovaginal Fistula after Low Anterior Resection in a COVID-19 Patient.

The spread of SARS-CoV-2 in Italy has been rapid, with over 230.000 infections and 33.000 deaths (May 31st, 2020). The full impact of COVID19 on surgery is still unknown, as its effects on healthcare strategy, hospital infrastructure, staff, regional economy and colorectal disease progression, may not be evident before several months. No systematic reports are available about a higher incidence of COVID19 infections in patients with cancer. However, available data indicate that older people are more vulnerable, particularly when there are underlying health conditions such as chemotherapy or active cancer. Herein, we present the case of a patient with rectal cancer treated with pull-through technique low anterior rectal resection and coloanal anastomosis with protective loop ileostomy, complicated with Sars-CoV-2 infection and late (31st post-operative day) colic ischemia with colo-vaginal fistula. Late intestinal ischemia is a rare complication and can be secondary to several traditional factors, but certainly small vessel thrombosis related to Coronavirus disease must be taken into consideration.

Womens' experiences of living with obstetric fistula in Ghana-time for the establishment of a fistula centre of excellence.

OBJECTIVE: To explore the experiences of women living with Obstetric Fistula in Ghana. DESIGN: A descriptive qualitative design involving face-to-face semi-structured interviews following institutional ethical approval. SETTING: Urban and rural setting in the Mfantseman Municipal Area (MMA) in the Central Region (CR) of Ghana PARTICIPANTS: A purposive sample of thirty- two women who had experienced obstetric fistula (OBF) FINDINGS: Three core themes emerged and these were i) Women's perceptions of OBF, ii) Experiences of women living with OBF iii) Coping strategies of women living with OBF CONCLUSION AND IMPLICATIONS FOR PRACTICE: There is a need for a multi-agency coordinated approach to the treatment and management of OBF in Ghana. The findings support the need for a dedicated specialist fistula centre to treat women and to meet the educational needs of health care professionals with strategies to prevent as well as support women with OBF. The hub and spoke organisation design for health care systems has proved beneficial in other health settings providing a level of quality that would not be possible otherwise. It is time to end the suffering of women living with obstetric fistula.

Vaginal stones caused by urethrovaginal fistula: A case report.

RATIONALE: Vaginal stone is a rare condition that is often misdiagnosed due to its low incidence. It can be divided into 2 types, primary vaginal and secondary vaginal, based on the etiology of the disease. Vaginal stones involve pathologic calcification. The formation of vaginal stones is mainly due to stasis and urine infection. We describe a procedure for the safe extraction of vaginal stones. PATIENT CONCERNS: We report a case of a 25-year-old female patient with congenital genitourinary malformation and urethrovaginal fistula. A urogenital tract malformation repair operation was performed before she was 21 years old. Frequency of urination occurred before and after menstruation for 9 years, and dyspareunia occurred for 1 year. DIAGNOSES: B ultrasound examination showed a 59 × 55 × 23 mm fusiform region of increased signal intensity in the vagina followed by a sound shadow. We performed a gynecologic examination and found that the long diameter of the vaginal opening was 20 mm. A brown substance observed in her vagina had a hard texture and felt like a stone, and a palpation hand test revealed the size was approximately 60 × 50 mm. A cystoscope was inserted into the urethra and revealed that the broken end of the urethra was connected to the vagina. The proximal broken end of the urethra was 20 mm from the distal end. INTERVENTIONS: The purpose of this operation was to make a definite diagnosis and remove the stones. We performed vaginal stone removal surgery and cystoscopy under anesthesia. OUTCOMES: We removed the stone successfully. The patient was discharged from the hospital after a smooth recovery without any complications. Follow-up was conducted 1 month after the operation and then every 3 months. LESSONS: Although vaginal stones are rare, we must pay attention to this disease, especially in patients with congenital genitourinary malformations and urethrovaginal or vesicovaginal fistulas. Obstruction of urine discharge combined with repeated urinary tract infection is the main cause of vaginal stone formation. For these patients, follow-up every 3 months, including a physical examination, B-mode ultrasonography of the urinary system and cystoscopy if necessary, can avoid the occurrence of the disease.

Delivery through cervicovaginal fistula - literature review and case report.

Less than 10 deliveries via cervicovaginal fistula (CVF) with closed cervical os were reported so far. In the majority of cases, the patients had a history of induced abortions. The CVF was usually recognized due to postpartum hemorrhage. The facilitating role of prostaglandins used for labor induction was supposed. In all cases, the babies remained unaffected by the delivery route. We report a new case of a 37-year-old gravida 2, para 0, with a history of a paracervical tear following a first trimester abortion 11 years ago. The abortion and the laceration were not reported in the current obstetrical documentation. After labor induction using oral misoprostol in the 41 + 5 weeks of pregnancy, the patient delivered a healthy baby through a left-sided CVF, which imposed as bleeding paracervical laceration, 6 cm in diameter, extending to the vaginal fornix in the 3 o'clock position. The cervical os was only 1-1.5 cm dilated and imposed as an inelastic band ("squid ring") in the 9 o'clock position. The laceration was sutured under spinal anesthesia. The patient recovered quickly, and the postpartum hemoglobin drop was 2.8 g/dl. In conclusion, the possibility of CVF should be considered in women with a history of induced abortion.

Acquired Urethrovaginal Fistula and Urethral Atresia in a Patient with a Sacrococcygeal Teratoma.

Acquired urethrovaginal fistulae and urethral atresia are rare findings in pediatric patients, but have been described in adult patients related to trauma or iatrogenic injury. Little exists in the published literature to guide management of such conditions in children, but lessons learned from congenital causes can help. Herein we discuss the preoperative evaluation and management of a child with an acquired urethrovaginal fistula and urethral atresia likely related to in utero compression from an intrapelvic sacrococcygeal teratoma and provide several images detailing the complex anatomy.

Ureterovaginal fistula: A complication of a vaginal foreign body.

OBJECTIVE: To know the diagnostic tools and proper management of ureterovaginal fistula following neglected vaginal foreign body in order to achieve optimal outcome. CASE REPORT: A case of ureterovaginal fistula associated with a neglected vaginal foreign body. The patient was complaining of a foul-smelling vaginal discharge and lower abdominal pain. On vaginal examination, a hard and large foreign body was found. Examination under anesthesia was performed, and an aerosol cap was removed from her vagina. The patient developed urinary incontinence after removal of the foreign body. Subsequent work-up demonstrated the presence of a right ureterovaginal fistula. The patient underwent an abdominal ureteroneocystostomy. At one year follow up, the patient had fully recovered. CONCLUSION: Ureterovaginal fistula following neglected vaginal foreign body is a serious condition. Early diagnosis, treatment of infection and proper surgical management can improve the outcome and decrease complications.

Female Voiding Dysfunction and Urinary Incontinence.

Female voiding dysfunction and incontinence are common in the general population and symptoms have been shown to have a significant negative impact on health-related quality of life. This article highlights the epidemiology, evaluation, diagnosis, pharmacologic therapies, and surgical treatment for overactive bladder, stress urinary incontinence, and urogenital fistulas.

"I am a person but I am not a person": experiences of women living with obstetric fistula in the central region of Malawi.

BACKGROUND: The consequences of living with obstetric fistula are multifaceted and very devastating for women, especially those living in poor resource settings. Due to uncontrollable leakages of urine and/or feces, the condition leaves women with peeling of skin on their private parts, and the wetness and smell subject them to stigmatization, ridicule, shame and social isolation. We sought to gain a deeper understanding of lived experiences of women with obstetric fistula in Malawi, in order to recommend interventions that would both prevent new cases of obstetric fistula as well as improve the quality of life for those already affected. METHODS: We conducted semi-structured interviews with 25 women with obstetric fistula at Bwaila Fistula Care Center in Lilongwe and in its surrounding districts. We interviewed twenty women at Bwaila Fistula Care Center; five additional women were identified through snowball sampling and were interviewed in their homes. We also interviewed twenty family members. To analyze the data, we used thematic analysis. Data were categorized using Nvivo 10. Goffman's theory of stigma was used to inform the data analysis. RESULTS: All the women in this study were living a socially restricted and disrupted life due to a fear of involuntary disclosure and embarrassment. Therefore, "anticipated" as opposed to "enacted" stigma was especially prevalent among the participants. Many lost their positive self-image due to incontinence and smell. As a way to avoid shame and embarrassment, these women avoided public gatherings; such as markets, church, funerals and weddings, thus losing part of their social identity. Participants had limited knowledge about their condition. CONCLUSION: The anticipation of stigma by women in this study consequently limited their social lives. This fear of stigma might have arisen from previous knowledge of social norms concerning bowel and bladder control, which do not take into account an illness like obstetric fistula. This misconception might have also arisen from lack of knowledge about causes of the condition itself. There is need therefore to create awareness and educate women and their communities about the causes of obstetric fistula, its prevention and treatment, which may help to prevent fistula as well as reduce all dimensions of stigma, and consequently increase dignity and quality of life for these women.

Urethrovaginal fistula closure.

INTRODUCTION AND HYPOTHESIS: In the developed world, urethrovaginal fistulas are most the likely the result of iatrogenic injury. These fistulas are quite rare. Proper surgical repair requires careful dissection and tension-free closure. The objective of this video is to demonstrate the identification and surgical correction of an urethrovaginal fistula. METHODS: The case presented is of a 59-year-old woman with a history of pelvic organ prolapse and symptomatic stress urinary incontinence who underwent vaginal hysterectomy, anterior colporrhaphy, posterior colporrhaphy, and synthetic sling placement. Postoperatively, she developed a mesh extrusion and underwent sling excision. After removal of her synthetic sling, she began to experience continuous urinary incontinence. Physical examination and cystourethroscopy demonstrated an urethrovaginal fistula at the midurethra. Options were discussed and the patient wished to undergo transvaginal fistula repair. RESULTS: The urethrovaginal fistula was intubated with a Foley catheter. The fistula tract was isolated and removed. The urethra was then closed with multiple tension-free layers. This video demonstrates several techniques for identifying and subsequently repairing an urethrovaginal fistula. Additionally, it demonstrates the importance of tension-free closure. CONCLUSIONS: Urethrovaginal fistulas are rare. They should be repaired with careful dissection and tension-free closure.

A descriptive longitudinal study protocol: recurrence and pregnancy post-repair of obstetric fistula in Guinea.

BACKGROUND: Obstetric fistula is a serious medical condition which affects women in low income countries. Despite the progress of research on fistula, there is little data on long term follow-up after surgical repair. The objective of this study is to analyse the factors associated with the recurrence of fistula and the outcomes of pregnancy following fistula repair in Guinea. METHODS: A descriptive longitudinal study design will be used. The study will include women who underwent fistula repair between 2012 and 2015 at 3 fistula repair sites supported by the Fistula Care Project in Guinea (Kissidougou Prefectoral Hospital, Labé Regional Hospital and Jean Paul II Hospital of Conakry). Participants giving an informed consent after a home visit by the Fistula Counsellors will be interviewed for enrolment at least 3 months after hospital discharge The study enrolment period is January 1, 2012 - June 30, 2015. Participants will be followed-up until June 30, 2016 for a maximum follow up period of 48 months. The sample size is estimated at 364 women. The cumulative incidence rates of fistula recurrence and pregnancy post-repair will be calculated using Kaplan-Meier methods and the risk factor analyses will be performed using adjusted Cox regression. The outcomes of pregnancy will be analysed using proportions, the Pearson's Chi Square (χ2) and a logistic regression with associations reported as risk ratios with 95 % confidence intervals. All analyses will be done using STATA version 13 (STATA Corporation, College Station, TX, USA) with a level of significance set at P < 0.05. DISCUSSION: This study will contribute to improving the prevention and management of obstetric fistula within the community and support advocacy efforts for the social reintegration of fistula patients into their communities. It will also guide policy makers and strategic planning for fistula programs. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT02686957 . Registered 12 February 2016 (Retrospectively registered).

Congenital urethrovaginal fistula with transverse vaginal septum.

Congenital urethrovaginal fistula is an extremely rare genitourinary anomaly. Literature search identified only five reported cases, all of which were associated with urogenital abnormalities. Transverse vaginal septum is another rare condition, resulting from abnormalities in the vertical fusion between the vaginal components of the Mullerian ducts and the urogenital sinus; and associated fistulous connection of the vagina with the urethra is even rarer. Herein we describe the case of a 35-year-old woman who presented with dyspareunia, and a 1-year history of infertility, who was found to have a urethrovaginal fistula with low transverse vaginal septum. The patient was successfully treated with excision of the septum and closure of the urethrovaginal fistula.

Laparoscopic surgery of benign entero-vesical or entero-vaginal fistulae.

PURPOSE: Entero-vesical or entero-vaginal fistulae (EVF) are an uncommon septic complication mainly of diverticular disease. The fistulae are usually situated within extensive and dense inflammatory masses occluding the entrance of the pelvis. There are still some controversies regarding laparoscopic feasibility and treatment modalities of this disorder. METHODS: A retrospective chart review of all patients with EVF operated at our department since 2008. Patients were identified by use of the computerized hospital information system. RESULTS: In nineteen patients (ten males), median age 68 years, 13 patients had entero-vesical fistulae, and 6 patients had entero-vaginal fistulae. The fistulae were caused by complicated diverticular disease in 16 patients (84 %), Crohn's disease (two patients), and ulcerative colitis (one patient). All cases were attempted laparoscopically. Operative treatment involved separation of the inflammatory mass and resection of the affected colorectal segment. There were three conversions (16 %), all three requiring bladder repair considered too extensive for laparoscopic means. In two further patients small bladder defects were sutured laparoscopically, the remaining patients required no bladder repair. The inferior mesentric artery (IMA) was preserved in all cases. Median operative time was 180 min. Two patients received a protective ileostomy: one converted patient and one cachectic patient with Crohn's disease under immune-modulating therapy. Both ileostomies were closed. Altogether, there were five complications in five patients (26 %), four of them were minor (Clavien grade I and II). The cachectic patient with Crohn's disease suffered a major (grade IIIb) complication (stoma prolapse, treated by early closure of the ileostomy). There was no anastomotic leakage and no mortality. Median hospital stay was 12 days. CONCLUSIONS: The laparoscopic approach is a safe option for the treatment of EVF of benign inflammatory origin. In most cases it offers all the advantages pertaining to minimally invasive surgery. For a definite and causal approach, the disorder belongs primarily within the therapeutic domain of the visceral surgeon. Following the separation of the inflammatory colon, most of the bladder lesions caused by EVF will heal without further surgical measures.

Global efforts for effective training in fistula surgery.

Obstetric fistulas continue to be a problem in low- and middle-income nations, affecting women of childbearing age during pregnancy and labor and resulting in debilitating urinary and/or fecal incontinence. Historically, this predicament also affected women in high-income nations until the middle of the last century. This is not a "new world" crisis therefore, but simply one of economic and health development. In the last two decades, new global initiatives have been instituted to improve training and education in preventative and curative fistula treatment by developing a unified and competency-based learning tool by surgeons in the field in partnership with FIGO and its global partners. This modern approach to the management of a devastating condition can only serve to achieve the WHO objective of health security for women throughout their life span.

Circumferential urethral fistulae in Sub-Saharan Africa, current outcomes and future prospects.

INTRODUCTION AND HYPOTHESIS: Circumferential urethral fistula is a severe form of obstetric injury that is recognized to carry a poor prognosis for eventual continence but this has not been quantified before. METHODS: An analysis of 106 women who had undergone primary repair of a circumferential fistula was carried out with particular reference to whether there complete continence or at least some improvement in remaining dry was reported. RESULTS: Of the 106 women, only 25% reported themselves continent; 19% said there was an improvement. Prognosis was not altered by the distance of the fistula from the external urethral meatus, with 10/62 (16% reporting continence if the fistula was <1.5 cm and 10/44 (13%) if >1.5 cm. There was a 13% primary dehiscence rate. CONCLUSIONS: Current methods of primary urethral fiistula repair carry a poor prognosis for eventual continence. Techniques to lengthen the urethra and provide greater support need to be developed for this unfortunate group of women.

Características e diagnóstico diferencial das doenças inflamatórias intestinais / Characteristics and differential diagnosis of inflammatory bowel diseases

As doenças inflamatórias intestinais (DIIs) compreendem, principalmente, a doença de Crohn (DC) e a retocolite ulcerativa (RU), ambas idiopáticas, porém relacionadas a uma resposta imunológica anormal à microbiota bacteriana da luz intestinal. Na RU a inflamação é difusa, restrita à mucosa e inespecífica, com comprometimento contínuo da parede, principalmente do reto, enquanto na DC as lesões são descontínuas, podem comprometer todas as camadas da parede e afetar qualquer parte do trato gastrointestinal. O quadro clínico é comum e compreende diarreia, febre e dores abdominais, podendo cursar também com manifestações extraintestinais. O diagnóstico é feito através dos dados clínicos, achados radiológicos e histológicos, sem haver, no entanto, nenhuma característica que isoladamente feche o diagnóstico de DII específica.

Inflammatory bowel diseases (IBDs) comprise mainly Crohn?s disease (CD) and ulcerative colitis (UC), both are idiopathic but believed to be related to an abnormal immune response to bacterial microbiota in the intestinal lumen. In RU diffuse inflammation is restricted to the mucosa and is nonspecific, with continued commitment that stars at rectum?s wall. In DC, the injuries are discontinuous, involve all layers of the intestinal wall and can affect any part of the gastrointestinal tract. The clinical picture of both is diarrhea, fever, abdominal pain, and may present with extraintestinal manifestations. The diagnosis is made by the junction of clinical, radiological and histological findings, without having, however, a feature alone that leads to a diagnosis of a specific IBD.

Ureterovaginal fistula after insertion of a McDonald suture: Case report and review of published reports.

Complications associated with cerclage that are commonly described in the existing published reports include injuries to the cervix or bladder, premature rupture of membranes, chorioamnionitis and bleeding. We report an unusual complication of a ureterovaginal fistula formation after the insertion of a McDonald suture.

Analysis of a pilot program to implement physical therapy for women with gynecologic fistula in the Democratic Republic of Congo.

OBJECTIVE: To describe components of a physical therapy pilot program for women with gynecologic fistula, and to report prospective data from the first 2 years of program implementation. METHODS: A single-cohort observational study with repeated measures was conducted at HEAL Africa Hospital, Goma, Democratic Republic of Congo. Hospital staff received training in pelvic floor physical therapy. Guidelines for exercise, functional training, and reproductive health education were integrated into the existing program. Demographics, clinical findings, and functional outcomes were recorded. Key stakeholders were interviewed to understand the perceived strengths and limitations of the program. RESULTS: A total of 205 women were followed up; 161 participated in physical therapy, with an average of 9.45 sessions. Of 161 women examined postoperatively, 102 (63.4%) reported no incontinence; they remained continent at discharge. Of 21 who indicated a change in level of incontinence during postoperative physical therapy, 15 (71.4%) improved. The program was feasible and well received by staff and patients. CONCLUSION: Pelvic floor physical therapy could have significant results in women with gynecologic fistula, may be an important adjunctive treatment in comprehensive fistula care, and warrants further investigation.