Ano-rectal

PURPOSE: Radiotherapy is essential in the treatment of locally advanced rectal cancer. Side effects of radiotherapy in the treatment of rectal cancer have a great effect on quality of life. The aim of this retrospective study is to evaluate the correlation between dosimetric parameters and acute toxicity in rectal cancer patients. METHODS: We analyzed the Dose Volume Histogram parameters for both the target structures and the Organs at risk of 89 patients. A dedicated statistical analysis was performed for all the acute toxicities showing a frequency rate higher than 20%...

INTRODUCTION: Omphalocele, bladder extrophy, imperforate anus and spinal defect (known as OEIS) is a very rare congenital anomaly with an unknown etiology. In this report we describe a case of an OEIS variant associated with a wide pubic diastasis, bladder extrophy with a recto-bladder neck fistula and a high ano-rectal malformation. This work has been reported in line with the SCARE 2020 criteria. PRESENTATION OF THE CASE: A 30-year-old mother delivered a male baby at 39 weeks through a normal vaginal delivery...

AIM: Gastrointestinal malignant melanoma is a rare mucosal melanoma (MM). Other MM include the respiratory and the genitourinary tract. All mucosal melanomas have a poor prognosis when compared to cutaneous melanomas. Ano-rectal melanomas are by far the most common and most studied gastrointestinal MM. Large-scale clinical data is lacking due to the rarity of the disease. We aim to analyze epidemiology and survival of the Gastrointestinal (G.I.) MM over 45 years using a national database...

BACKGROUND: Poorly managed post-operative pain can lead to complications and prolonged rehabilitation. Pain Management after ano-rectal surgery becomes important as it could hamper day to day activities, disturb sleep, alter appetite and bowel evacuations and decrease the quality of life. According to Acharya Sushrutha, pain (Shoola) cannot be produced without Vata dosha and Shoola (pain) is inevitable after Shastra (surgical) Karma (procedure) for which Basti (enema) is usually the management of choice...

BACKGROUND: Syphilis diagnosis may be challenging, especially in the asymptomatic and early clinical stages. We evaluated the presence of Treponema pallidum DNA (TP-DNA) in various sample types to elucidate transmissibility during various syphilis stages. METHODS: The study was conducted at the Amsterdam Centre for Sexual Health. We included adult men who have sex with men (MSM), who were suspected of having syphilis. The 2020 European guidelines definitions were followed for the diagnosis and staging of syphilis...

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...

The anterior sagittal trans-ano-rectal approach (ASTRA) provides excellent exposure to the urethra and vagina for partial or total urogenital sinus mobilization and subsequent reconstruction for patients with urogenital sinus anomalies. It is a frequent approach to reconstruction for children with a high confluence. However, the division of the anterior anal external sphincter and the rectal wall in the ASTRA incurs morbidity, which include fecal incontinence if one veers from the midline, and increased risk of wound infection due to fecal soilage...

AIM: THD SphinKeeper® is an emerging surgical technique for faecal incontinence (FI). The safety, indications and efficacy of the procedure are still being investigated. This study presents the first experience of SphinKeeper® in Australia. METHOD: This was a prospective single centre observational study of patients undergoing SphinKeeper® implantation between February 2018 and September 2019. Baseline demographics, intra-operative and post-operative complications, Cleveland Clinic Faecal Incontinence Score, St Mark's Incontinence Score, Faecal Incontinence Quality of Life score (FIQOL), anorectal manometry and endo-anal ultrasound were assessed preoperatively, three and 12-months post implantation...

Anal canal duplication (ACD) is a very rare condition, diagnosed and treated mostly in childhood. Less than 90 cases have been reported in the literature so far. We are presenting a case of a young woman who underwent surgical excision of the duplication when she was 27 years old. The patient was unaware of her condition and was referred from a gynaecological office to the surgical department with a history of perianal discomfort and mucus discharge. Local examination showed an external orifice posterior to the anal opening, on the median line, which had the macroscopic appearance of a secondary anal orifice...

Chronic idiopathic constipation (CIC) is a common functional bowel disorder characterized by difficult, infrequent, and/or incomplete defecation. It has a great impact on the quality of life and on health care system and represents a heavy economic burden. The diagnosis is based on symptoms, classified by the Rome IV criteria. The aim of this review was to evaluate the current therapeutic guidelines for adult CIC and highlight new emerging treatments. In detail, European, French, Spanish and Korean guidelines have been identified and compared...

Background. Chlamydia trachomatis (CT) is the agent of the most common bacterial sexually transmitted infection worldwide, with a significant impact on women's health. Despite the increasing number of studies about the vaginal microbiome in women with CT infections, information about the composition of the anal microbiome is still lacking. Here, we assessed the bacterial community profiles of vaginal and anal ecosystems associated or not with CT infection in a cohort of Caucasian young women. Methods. A total of 26 women, including 10 with a contemporary vaginal and ano-rectal CT infection, were enrolled...

The burdenofchildren with cardiovascular disease is on a rising trend. These rising trends are enhanced by the development of new technology in the diagnosis of cardiac lesions.This article is aimed at documenting the current trends in the occurrence of cardiac disease among children attending tertiary hospitals in Sothern Nigeria.This is a descriptive study which involved four hundred and thirty-nine (439) children who had cardiac disease confirmed with echocardiography from four health institutions, namely; Niger Delta University, Bayelsa, Nigeria; University of Nigeria Teaching Hospital, Enugu, Nigeria; Triple care hospital, Enugu, Nigeria and; Blessed children hospital, Enugu, Nigeria over a -five -year period from July 2016- July 2020...

Introduction: Late gastro-intestinal toxicities (LGIT) secondary to pelvic radiotherapy (RT) are well described in the literature. LGIT are mainly related to rectal or ano-rectal irradiation; however, involvement of the anal canal (AC) in the occurrence of LGIT remains poorly described and understood. Materials and Methods: The aim of this work was to explore the potential role of the AC in the development of LGIT after prostate irradiation and identify predictive factors that could be optimized in order to limit these toxicities...

BACKGROUND: Multiple primary malignancies are two or more malignancies in an individual without any relationship between the tumors. The development of improved diagnostic techniques, increased survival of cancer patients and the growing life expectancy have all contributed to the increased frequency of this phenomenon. OBJECTIVE: The aim of this study is to review the multidetector computed tomography (MDCT) findings of synchronous breast carcinoma and other solid malignancies...

Persistent left superior vena cava (PLSVC) is the most frequent abnormality in the general population with the frequency of 0.1% to 0.5%. It results from the failure of the involution of the left anterior cardinal vein. Right and Left SVC can coexist together in 80% to 90% of cases. Association of PLSVC with ano rectal malformation (ARM) is very rarely reported. Hence, here is a report of a unique case of PLSVC in a female neonate with ARM.

We present a case series of two patients with tracheo-oesophageal fistula with oesophageal atresia (TOF/OA), duodenal atresia (DA) and ano-rectal malformation (ARM). This constellation of abnormalities, dubbed triple atresia (TA), is a rare combination with few described cases in the literature. Here we describe our management of these cases, as well as the results of our literature review. Both of our cases had staged surgical procedures and were initially managed with thoracotomy for repair of TOF/OA on day two of life...

BACKGROUND/PURPOSE: The anterior anus (AA) is a condition, almost exclusively present in females, in which the anus is located abnormally anterior along the perineal body, well separated from the vulva. Definition and treatment are still controversial. This study aimed to evaluate the medium-long term follow up of patients with AA conservatively managed, considering the gynaecologic aspects in post-menarchal girls. MATHERIALS/METHODS: This cross-sectional study includes AA patients older than 3 years at time of the study, followed in two referral centres for ARM between January 2000 and May 2017...

Malignant mucosal melanoma (MM) is a rare and aggressive neoplasm, which behaves differently from its cutaneous counterpart. MM of head and neck account for 55.4%, genital tracts - 18%, ano-rectal - 23.8% and urinary tract - 2.8%. Less than 200 cases of urethral melanomas have been reported in literature, out of which MM of female urethra represent only 0.2% of primary melanomas. Owing to the delayed presentation, early onset of metastasis and aggressive tumor biology, prognosis has remained largely poor despite adequate local control in MM...

INTRODUCTION: It is well established that the PKHD1 mutations are associated with autosomal recessive polycystic kidney disease (ARPKD). Although, PKHD1 mutations are also detected in certain cancer types, to our knowledge in rare tumors such as, atypical teratoid rhabdoid tumor (ATRT), primary neuro-ectodermal tumor (PNET), atypicalchoroid plexus papilloma (a-CPP), amelanotic ano-rectal melanoma (AMM), and breast phyllodes tumors PKHD1 mutations profiling is not reported. METHODS: In order to determine the PKHD1 gene mutation patterns in the brain, rectal, and breast tumors we have analyzed these tumor DNA by Ion Proton Next generation DNA sequencing...

The VACTERL association (VA) is defined as the nonrandom co-occurrence of 6 anomalies: vertebral anomalies (V), Anal atresia (A), Cardiac defects (C), Tracheo-esophageal fistula (TE), Renal defects (R), and Limb anomalies (L). The current communication presents an argument that patients with VA should be classified into three district groups based on their limb defects: VACTERL1: patients with normal limbs; VACTERL2: patients with limb anomalies other than radial ray defects of the upper limbs; and VACTERL3: patients with radial ray defects of the upper limbs...