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https://www.readbyqxmd.com/read/28817240/prenatal-presentation-of-mabry-syndrome-with-congenital-diaphragmatic-hernia-and-phenotypic-overlap-with-fryns-syndrome
#1
Kara K Reynolds, Jane Juusola, Gregory M Rice, Philip F Giampietro
We report on a family in which initial features were compatible with Fryns syndrome. The first sibling was a stillborn female with a left diaphragmatic hernia (DH). Her clinical features overlapped with Fryns syndrome. The second pregnancy, a male fetus, was followed for polyhydramnios, hypoplastic mandible, mild enlargement of the fetal bladder, hydronephrosis, and rocker bottom foot deformities. He had facial features similar to his sibling and a large cleft of the secondary palate, small jaw, and secundum atrial septal defect...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28814599/total-alimentary-canal-necrosis-infarction-from-oesophagus-to-anus
#2
Mark McKelvie, Dipankar Chattopadhyay
No abstract text is available yet for this article.
August 16, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28810634/misdiagnosis-of-a-cloacal-exstrophy-variant-as-urorectal-septum-malformation-in-a-fetus-by-ultrasound-a-case-report
#3
Yang-Qing Xu, Xiao-Hong Yang, Xin-Lin Chen, Xiu-Qiin Ji, Sheng Zhao
Cloacal exstrophy variants are comprised of a wide range of characteristics, of which there are four primary features, including omphalocele, bladder exstrophy, an imperforate anus and spina bifida. The existing literature regarding the differential diagnosis from alternative urinary diseases prenatally are limited. If the bladder is present, defects in the ventral wall may not be visualized with prenatal ultrasound in certain conditions, including oligohydramnios, and differential diagnosis from urorectal septum malformation sequence is a challenge...
August 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28808931/robotic-total-pelvic-exenteration-video-illustrated-technique
#4
Ioannis T Konstantinidis, William Chu, Federico Tozzi, Clayton Lau, Mark Wakabayashi, Kevin Chan, Byrne Lee
BACKGROUND: Robotic-assisted total pelvic exenteration (TPE) can offer a minimally invasive approach to a major multi-organ operation. METHODS: In this video, we summarize a stepwise approach to robotic TPE in a 70 year-old female Jehovah's witness with a history of cervical cancer post-chemoradiation and radical hysterectomy who experienced local recurrence at the vaginal cuff involving the rectum and bladder. RESULTS: The patient was placed in the lithotomy position...
August 14, 2017: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/28803888/cancer-risk-in-hiv-infected-people-in-the-usa-from-1996-to-2012-a-population-based-registry-linkage-study
#5
Raúl U Hernández-Ramírez, Meredith S Shiels, Robert Dubrow, Eric A Engels
BACKGROUND: Monitoring cancer risk among HIV-infected people in the modern antiretroviral therapy (ART) era is essential given their elevated risk for many cancers and prolonged survival with immunosuppression, ART exposure, and ageing. We aimed to examine cancer risk in HIV-infected people in the USA as compared with that in the general population. METHODS: We did a registry-linkage study with data from population-based HIV and cancer registries in the USA (the HIV/AIDS Cancer Match Study)...
August 10, 2017: Lancet HIV
https://www.readbyqxmd.com/read/28802802/nodal-stage-migration-and-prognosis-in-anal-cancer-a-systematic-review-meta-regression-and-simulation-study
#6
Hema Sekhar, Marcel Zwahlen, Sven Trelle, Lee Malcomson, Rohit Kochhar, Mark P Saunders, Matthew Sperrin, Marcel van Herk, David Sebag-Montefiore, Matthias Egger, Andrew G Renehan
BACKGROUND: In patients with squamous cell carcinoma of the anus (SCCA), lymph node positivity (LNP) indicates poor prognosis for survival and is central to radiotherapy planning. Over the past three decades, LNP proportion has increased, mainly reflecting enhanced detection with newer imaging modalities; a process known as nodal stage migration. If accompanied by constant T stage distributions, prognosis for both lymph node-positive and lymph node-negative groups may improve without any increase in overall survival for individual patients; a paradox termed the Will Rogers phenomenon...
August 9, 2017: Lancet Oncology
https://www.readbyqxmd.com/read/28797517/gynecologic-anatomic-abnormalities-following-anorectal-malformations-repair
#7
Alejandra Vilanova-Sanchez, Carlos A Reck, Kate A McCracken, Victoria A Lane, Alessandra C Gasior, Richard J Wood, Marc A Levitt, Geri D Hewitt
BACKGROUND/AIM: Patients may present with gynecologic concerns after previous posterior sagittal anorectoplasty (PSARP) for repair of an anorectal malformation (ARM). Common findings include an inadequate or shortened perineal body, as well as introital stenosis, retained vaginal septum, and remnant rectovestibular fistula. An inadequate or shortened perineal body may impact fecal continence, sexual function and recommendations regarding obstetrical mode of delivery. We describe our experience with female patients referred to our center for evaluation of their previously repaired ARM, with a specific focus on perineal body anatomy and concomitant gynecologic abnormalities...
July 24, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28796979/anovestibular-fistula-in-an-infant-with-retroviral-infection-case-report
#8
Deepa Makhija, Hemanshi Shah, Charu Tiwari, Jayesh Desale
A vestibular fistula with a normal anus is a rare subtype of anorectal malformation seen more often in East Asia and India. Though mostly congenital, some authors have suggested acquired etiologies for this condition. Infants with retroviral infection have been reported to develop acquired rectovestibular fistulas. We report a case of an infant anovestibular fistula in a patient with retroviral infection.
2017: Developmental Period Medicine
https://www.readbyqxmd.com/read/28796730/squamous-cancers-of-the-rectum-demonstrate-poorer-survival-and-increased-need-for-salvage-surgery-compared-with-squamous-cancers-of-the-anus
#9
Audrey S Kulaylat, Christopher S Hollenbeak, David B Stewart
BACKGROUND: Squamous cell cancers of the anus are rare GI malignancies for which neoadjuvant chemoradiation is the first-line treatment for nonmetastatic disease. Squamous cancers of the rectum are far less common, and it is unclear to what degree chemoradiotherapy improves their outcomes. OBJECTIVE: The purpose of this study was to compare stage-specific survival for anal and rectal squamous cancers stratified by treatment approach. DESIGN: This was a retrospective cohort study...
September 2017: Diseases of the Colon and Rectum
https://www.readbyqxmd.com/read/28782658/patterns-of-treatment-of-accidental-genital-trauma-in-girls
#10
Tazim Dowlut-McElroy, Jeanette Higgins, Karen B Williams, Julie L Strickland
STUDY OBJECTIVE: To evaluate the characteristics of girls with accidental genital trauma (AGT) who can be managed in the emergency department (ED) versus the operating suite (OS). DESIGN: Retrospective cohort. SETTING: ED at a children's hospital in a metropolitan area. PARTICIPANTS: Girls aged 0 to 18 years with AGT. MAIN OUTCOME MEASURES: Factors associated with need for evaluation and repair of AGT in the OS...
August 3, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/28763709/similar-mechanisms-of-traumatic-rectal-injuries-in-patients-who-had-anal-sex-with-animals-to-those-who-were-butt-fisted-by-human-sexual-partner
#11
Damian Jacob Sendler
Sexual pleasure comes in various forms of physical play, for many it involves stimulation of the vagina, while the anus for others; some enjoy both. A recent report by Cappelletti et al.(1) shows a meta-analysis of cases describing anal trauma due to sexual fisting in human partners. This clinical article reports four cases of males diagnosed with zoophilia, and who received anal sex from animals, resulting in injuries. Surgical and psychiatric evaluations are summarized. Unusual etiology of sexual activity with animals caused peri-anal trauma in men who engaged in anal sex with dogs and farm animals...
July 25, 2017: Journal of Forensic and Legal Medicine
https://www.readbyqxmd.com/read/28762535/anatomical-complications-of-hysterectomy-a-review
#12
REVIEW
Rebecca C Ramdhan, Marios Loukas, R Shane Tubbs
INTRODUCTION: Hysterectomy is the most commonly performed gynecological procedure in the United States with three possible surgical approaches; vaginal, abdominal and laparoscopic. As with any surgical procedure, various anatomical complications can arise. These include injuries to anatomical structures such as the urinary bladder, ureter, intestines, rectum, anus and a multitude of nervous structures. Other complications include sexual dysfunction, vaginal cuff dehiscence and urinary incontinence...
August 1, 2017: Clinical Anatomy
https://www.readbyqxmd.com/read/28760981/three-cambrian-fossils-assembled-into-an-extinct-body-plan-of-cnidarian-affinity
#13
Qiang Ou, Jian Han, Zhifei Zhang, Degan Shu, Ge Sun, Georg Mayer
The early Cambrian problematica Xianguangia sinica, Chengjiangopenna wangii, and Galeaplumosus abilus from the Chengjiang biota (Yunnan, China) have caused much controversy in the past and their phylogenetic placements remain unresolved. Here we show, based on exceptionally preserved material (85 new specimens plus type material), that specimens previously assigned to these three species are in fact parts of the same organism and propose that C. wangii and G. abilus are junior synonyms of X. sinica Our reconstruction of the complete animal reveals an extinct body plan that combines the characteristics of the three described species and is distinct from all known fossil and living taxa...
August 15, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28728138/first-trimester-urinary-bisphenol-a-concentration-in-relation-to-anogenital-distance-an-androgen-sensitive-measure-of-reproductive-development-in-infant-girls
#14
Emily S Barrett, Sheela Sathyanarayana, Omar Mbowe, Sally W Thurston, J Bruce Redmon, Ruby H N Nguyen, Shanna H Swan
INTRODUCTION: Evidence from animal models suggests that prenatal exposure to bisphenol A (BPA), a ubiquitous endocrine-disrupting chemical, is associated with adverse reproductive outcomes in females. Exposure during early gestation, a critical period for reproductive development, is of particular concern. Anogenital distance (AGD) is a sensitive biomarker of the fetal hormonal milieu and a measure of reproductive toxicity in animal models. In some studies, the daughters of BPA-exposed dams have shorter AGD than controls...
July 11, 2017: Environmental Health Perspectives
https://www.readbyqxmd.com/read/28725198/3d-reconstruction-of-the-digestive-system-in-octopus-vulgaris-cuvier-1797-embryos-and-paralarvae-during-the-first-month-of-life
#15
Raquel Fernández-Gago, Martin Heß, Heidemarie Gensler, Francisco Rocha
Octopus vulgaris aquaculture is limited due to poor biological knowledge of the paralarval stages (e.g., digestive system functionality), their nutritional requirements (e.g., adequate live diet) and standardization of rearing techniques. These factors are important in explaining the high mortality rate observed in this developmental stage under culture conditions. For a better understanding of nutrition biology of this species, we investigated the 3D microanatomy of the digestive tract of the embryo and paralarvae during the first month of life...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28723867/prediction-of-severe-toxicity-in-adult-patients-under-treatment-with-5-fluorouracil-a-prospective-cohort-study
#16
Carolina Vázquez, María Orlova, Federico Angriman, José N Minatta, Paula Scibona, María A Verzura, Esteban G Jáuregui, Heidy Díaz de Arce, María G Pallotta, Waldo H Belloso
5-Fluorouracil (5-FU) has long been used for the treatment of gastrointestinal tumors harboring interindividual variability in both the pharmacokinetic and the pharmacogenetic profiles, which in turn may lead to life-threatening toxicities. We carried out a prospective cohort study of adult patients initiating treatment with 5-FU between 2013 and 2015. Primary exposures of interest were the methylenetetrahydrofolate reductase single nucleotide polymorphism in exons 4 and 7 and 5'-untranslated region-thymidylate synthase VNTR genotypes, in addition to baseline clinical and demographic variables...
July 18, 2017: Anti-cancer Drugs
https://www.readbyqxmd.com/read/28722093/-a-multicenter-randomized-controlled-trial-of-wheat-cellulose-particles-in-the-treatment-of-internal-hemorrhoids
#17
Yunhua Peng, Wei Yang, Yehuang Wang, Xiaohua Fan, Xueping Zheng, Juanjuan Gai
OBJECTIVE: To evaluate the efficacy and safety of wheat cellulose particles (testa triticum tricum purify, Fiberform) in the treatment of internal hemorrhoid. METHODS: A multicenter randomized controlled clinical trial was adopted. From October 2015 to July 2016, 60 patients with internal hemorrhoid were enrolled from three medical centers, including Department of Anorectum, Shuguang Hospital of Shanghai University of Traditional Chinese Medicine, Department of Anorectum, The Third Affiliated Hospital of Nanjing University of Chinese Medicine, Department of Anorectum, The Second Affiliated Hospital of Guangzhou University of Chinese Medicine...
July 25, 2017: Zhonghua Wei Chang Wai Ke za Zhi, Chinese Journal of Gastrointestinal Surgery
https://www.readbyqxmd.com/read/28722085/-anatomical-planes-and-landmarks-of-transanal-total-mesorectal-excision-for-rectal-cancer-and-prophylaxis-of-intraoperative-complications
#18
Zhanlong Shen, Yingjiang Ye, Shan Wang
Total mesorectal excision (TME) is a mile-stone procedure in the history of rectal cancer surgery, but the exposure of surgical field of distal rectum is usually poor in patients with male, obese and narrow pelvis, which may lead to tumor residue and relative complications. Recently, a new technique called transanal TME (taTME) is considered to solve the above problems, but most medical centers are still in the learning curve of this procedure. Therefore, anatomical planes and landmarks of taTME for rectal cancer and prophylaxis of intraoperative complications are induced in this paper, which includes posterior plane: angle of anus and distal mesorectum and bleeding of mesorectum; rectosacral fascia and presacral bleeding; lateral and posterior-lateral plane: posterior branches of pelvic plexus and damage of anal function; anterior plane: vessel branches of neurovascular bundle and bleeding...
July 25, 2017: Zhonghua Wei Chang Wai Ke za Zhi, Chinese Journal of Gastrointestinal Surgery
https://www.readbyqxmd.com/read/28709660/effect-of-gastrointestinal-malformations-on-the-outcomes-of-patients-with-congenital-heart-disease
#19
Carlos M Mery, Luis E De León, J Rubén Rodriguez, R Michael Nieto, Wei Zhang, Iki Adachi, Jeffrey S Heinle, Lauren C Kane, E Dean McKenzie, Charles D Fraser
BACKGROUND: The goal of this study was to assess the effect of associated gastrointestinal malformations (GI) on the outcomes of patients undergoing congenital heart operations. METHODS: Neonates and infants with thoracic (esophageal atresia, tracheoesophageal fistula) and abdominal (duodenal stenosis/atresia, imperforate anus, Hirschsprung disease) GI malformations undergoing congenital heart operations between 1995 and 2015 were included. Two control groups were created, one for each group...
July 11, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28708948/hospitalizations-associated-with-malignant-neoplasia-and-in-situ-carcinoma-in-the-anus-and-penis-in-men-and-women-during-a-5-year-period-2009-2013-in-spain-an-epidemiological-study
#20
Noelia López, Ángel Gil-de-Miguel, Raquel Pascual-García, Ruth Gil-Prieto
BACKGROUND: Approximately 40,000 new cases of anal cancer and 26,000 new cases of penile cancer occurred in 2012 worldwide. Human Papillomavirus (HPV) infection is responsible for 88.3% and 33.0% of these cancers, respectively. The aim of this study was to describe the hospital burden associated with malignant neoplasm (MN) and in situ carcinoma (ISC) in the anus and penis in Spain from 2009 to 2013. METHODS: This observational, retrospective study used discharge information obtained from the national surveillance system for hospital data, Conjunto Mínimo Básico de Datos, provided by the Ministry of Health...
July 14, 2017: Human Vaccines & Immunotherapeutics
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