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https://www.readbyqxmd.com/read/27900998/novel-mutations-in-psenen-gene-in-two-chinese-acne-inversa-families-manifested-as-familial-multiple-comedones-and-dowling-degos-disease
#1
Cheng Zhou, Guang-Dong Wen, Lwin Myint Soe, Hong-Jun Xu, Juan Du, Jian-Zhong Zhang
BACKGROUND: Acne inversa (AI), also called hidradenitis suppurativa, is a chronic, inflammatory, recurrent skin disease of the hair follicle. Familial AI shows autosomal-dominant inheritance caused by mutations in the γ-secretase genes. This study was aimed to identify the specific mutations in the γ-secretase genes in two Chinese families with AI. METHODS: In this study, two Chinese families with AI were investigated. All the affected individuals in the two families mainly manifested with multiple comedones, pitted scars, and a few inflammatory nodules on their face, neck, trunk, axilla, buttocks, upper arms, and thighs...
2016: Chinese Medical Journal
https://www.readbyqxmd.com/read/27894384/-reconstruction-of-anal-stenosis-induced-by-scar-contracture-after-repair-of-defect-in-perineal-region-with-paraumbilical-flap-using-random-pattern-flap
#2
Q Liu, X B You, Z Cai, K Y Tang, H Zhang
Objective: To investigate the method and timing of reconstruction of anal stenosis induced by scar contracture after repair of defect in perineal region with paraumbilical flap using random pattern flap. Methods: Ten patients who suffered anal stenosis induced by scar contracture after the first phase repair of defect of perineal region with paraumbilical flap were hospitalized from July 2009 to September 2015. Eight patients were with central type scar contracture of perineal region after healing of burn wound, and two patients were with lesion of perineal region which had been excised...
November 20, 2016: Zhonghua Shao Shang za Zhi, Zhonghua Shaoshang Zazhi, Chinese Journal of Burns
https://www.readbyqxmd.com/read/27891706/rectal-intussusception-can-high-resolution-three-dimensional-ano-rectal-manometry-compete-with-conventional-defecography
#3
A Benezech, M Cappiello, K Baumstarck, J-C Grimaud, M Bouvier, V Vitton
BACKGROUND: Three-dimensional high-resolution anorectal manometry (3DHRAM), used for exploring anorectal disorders, was recently developed, providing interesting topographic data for the diagnosis of pelvic floor disorders such as excessive perineal descent. The aim of our study was to define a diagnostic strategy based on selected 3DHRAM parameters to identify rectal intussusceptions (RI), considering conventional defecography (CD) as the gold standard. METHODS: All patients referred to our center in the previous 6 months for 3DHRAM to explore fecal incontinence or constipation, and who previously achieved CD, were eligible...
November 27, 2016: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/27889039/epidemiology-of-anal-canal-cancer
#4
REVIEW
Valerie M Nelson, Al B Benson
Anal cancer is a rare malignancy, although its incidence has been increasingly in recent decades. This article discusses risk factors for anal cancer and how these risk factors affect the changing demographics of this disease.
January 2017: Surgical Oncology Clinics of North America
https://www.readbyqxmd.com/read/27889038/treatment-of-the-primary-tumor-in-anal-canal-cancers
#5
REVIEW
Rob Glynne-Jones, Sheela Rao
Radical concurrent chemoradiotherapy with 5-fluorouracil and mitomycin C (MMC) remains the standard of care for squamous cell carcinoma of the anus. Phase III trials over 2 decades have used combined radiation doses of 50 to 60 Gy with concurrent fluoropyrimidines, MMC, or cisplatin in various doses and schedules. Modern radiotherapy techniques allow the production of highly conformal plans, decreasing radiation doses to the organs at risk and ensuring a shorter overall treatment time without the need for treatment breaks...
January 2017: Surgical Oncology Clinics of North America
https://www.readbyqxmd.com/read/27889037/pathology-of-anal-cancer
#6
REVIEW
Paulo M Hoff, Renata Coudry, Camila Motta Venchiarutti Moniz
Anal canal cancer is rather an uncommon disease but its incidence is increasing. Squamous cell carcinoma (SCC) is the most frequent primary anal neoplasm and can encompass a variety of morphologies. HPV infection has a key role in precancerous lesions and cancer development by the production of E6 and E7 oncoproteins. Anal squamous precancerous lesions are now classified according to the same criteria and terminology as their cervical counterparts. The p16 expression by immunohistochemistry is a surrogate marker for human papilloma virus (HPV)...
January 2017: Surgical Oncology Clinics of North America
https://www.readbyqxmd.com/read/27889036/diagnosis-and-diagnostic-imaging-of-anal-canal-cancer
#7
REVIEW
Kristen K Ciombor, Randy D Ernst, Gina Brown
Anal canal cancer is an uncommon malignancy but one that is often curable with optimal therapy. Owing to its unique location, histology, risk factors, and usual presentation, a careful diagnostic approach is warranted. This approach includes an excellent history and physical examination, including digital rectal examination, laboratory data, and comprehensive imaging. Anal cancer staging and formulation of a treatment plan depends on accurate imaging data. Modern radiographic techniques have improved staging quality and accuracy, and a thorough knowledge of anal anatomy is paramount to the optimal multidisciplinary treatment of this disease...
January 2017: Surgical Oncology Clinics of North America
https://www.readbyqxmd.com/read/27889033/uncommon-anal-neoplasms
#8
REVIEW
Amitesh C Roy, David Wattchow, David Astill, Simron Singh, Susan Pendlebury, Kirsten Gormly, Eva Segelov
Uncommon neoplasms of the anal canal are associated with significant diagnostic dilemma in clinical practice and a high index of suspicion and pathologic expertise is needed. The incidence is likely to increase, particularly of small, incidental lesions found because of use of more frequent colonoscopy and high-definition MRI. Generally treatment follows that of the same histologic subtype in other anatomic location. Surgical intervention is the cornerstone for cure in early/localized disease; however, removal of the anal canal is associated with significant morbidities and quality of life issues...
January 2017: Surgical Oncology Clinics of North America
https://www.readbyqxmd.com/read/27889032/metastatic-anal-cancer-and-novel-agents
#9
REVIEW
Van Morris, Cathy Eng
Squamous cell carcinoma of the anal canal (SCCA) represents an orphan disease. Although prior infection with human papilloma virus is associated with the development of SCCA, knowledge of this relationship has proven ineffective in identifying therapeutic agents that have activity in the management of metastatic SCCA. Combination chemotherapy with traditional cytotoxic agents has demonstrated efficacy in multiple small series. However, immune checkpoint blockade agents have demonstrated efficacy for patients with refractory metastatic SCCA; these agents hold promise in the horizon for patients with metastatic SCCA...
January 2017: Surgical Oncology Clinics of North America
https://www.readbyqxmd.com/read/27889031/surveillance-of-anal-canal-cancers
#10
REVIEW
Richard Adams
Anal squamous cell cancer is most frequently a locoregional disease that is amenable to curative therapy in a majority of fit patients. Complete response rates after chemoradiotherapy (CRT) are good, with up to 75% of patients with no evidence of relapse on surveillance. Relapse is most frequently locoregional and is often amendable to salvage surgery with curative intent. Effective surveillance attempts to improve outcomes by identifying recurrent or persistent disease early, managing both acute and late toxicities, and offering reassurance to patients...
January 2017: Surgical Oncology Clinics of North America
https://www.readbyqxmd.com/read/27889030/locally-recurrent-disease-related-to-anal-canal-cancers
#11
REVIEW
Tarik Sammour, Miguel A Rodriguez-Bigas, John M Skibber
Surgery for anal cancer is usually reserved for patients with persistent disease or local recurrence after definitive chemoradiation therapy. Patients with local recurrence should be re-evaluated for evidence of metastatic disease using positron emission tomography-computed tomography, and the local anatomy should be delineated with MRI. Eligible patients should undergo tailored surgery with the aim of achieving an R0 resection. Management is best undertaken within a specialized multidisciplinary setting. Careful patient selection and shared decision making are paramount for achieving acceptable patient-centered outcomes...
January 2017: Surgical Oncology Clinics of North America
https://www.readbyqxmd.com/read/27881288/internal-anal-sphincter-clinical-perspective
#12
REVIEW
Lalit Kumar, Anton Emmanuel
OBJECTIVE: To summarise current knowledge of Internal anal sphincter. BACKGROUND: The internal anal sphincter (IAS) is the involuntary ring of smooth muscle in the anal canal and is the major contributor to the resting pressure in the anus. Structural injury or functional weakness of the muscle results in passive incontinence of faeces and flatus. With advent of new assessment and treatment modalities IAS has become an important topic for surgeons. This review was undertaken to summarise our current knowledge of internal anal sphincter and highlight the areas that need further research...
November 20, 2016: Surgeon: Journal of the Royal Colleges of Surgeons of Edinburgh and Ireland
https://www.readbyqxmd.com/read/27878130/an-unusual-case-of-transorificial-abdomino-thoracic-impalement-injury-in-a-child
#13
Hemanshi Shah, Charu Tiwari, Shalika Jayaswal, Keshav Murthy
Impalement injuries are rare in the paediatric age group. Still rarer are injuries which traverse multiple body cavities. Such injuries require multispecialty management at a tertiary care centre. We describe a case of an accidental impalement injury in a 12-year-old boy after a fall from height. The rod was seen passing through the right lung in the paracardiac region, piercing the diaphragm and segment IV of the liver and then coursing anterior to the inferior vena cava in the midline. It was seen passing through the small bowel at multiple places and then coursing behind the bladder, entering the rectum and anal canal...
October 2016: Bulletin of Emergency and Trauma
https://www.readbyqxmd.com/read/27872539/adenosquamous-carcinoma-of-the-duodenum-a-rare-entity
#14
Garima Daga, Prashant Kerkar
Adenosquamous carcinomas (ASC) of the duodenum are extremely rare neoplasms. They have been reported throughout gastrointestinal tract, including the gastroesophageal junction and the anal canal. Only a few cases of ASC of the small bowel and duodenum have been reported in the literature. Here in we report a case ASC of the second part of the duodenum in a 78-year-old man.
December 2016: Indian Journal of Surgical Oncology
https://www.readbyqxmd.com/read/27857005/polypoid-anal-melanoma-a-case-report-and-review-of-the-literature
#15
Roberta Tutino, Giuseppe Clerico, Alberto Realis Luc, Gaetano Gallo, Mario Trompetto
INTRODUCTION: Ano-rectal melanoma is an uncommon finding in patients complaining of rectal bleeding and/or anal mass often misinterpreted as a haemorroidal pile. CASE REPORT: A 55-years-old woman, complaining of rectal bleeding, frequent anal pain and anal mass suspected for haemorroidal thrombosis was referred for evaluation and possible treatment. A brown polypoid mass arising from the anal canal/lower rectum with a maximum diameter of 6 cm was diagnosed. The hystological examination of the neoplasm, transanally removed, revealed the presence of a polypoid melanoma partially involving the resection margin...
November 12, 2016: Annali Italiani di Chirurgia
https://www.readbyqxmd.com/read/27852700/genomic-evolution-after-chemoradiotherapy-in-anal-squamous-cell-carcinoma
#16
Kent W Mouw, James M Cleary, Brendan Reardon, Jonathan Pike, Lior Z Braunstein, Jaegil Kim, Ali Amin-Mansour, Diana Miao, Alexis Damish, Joanna Chin, Patrick A Ott, Charles S Fuchs, Neil E Martin, Gad Getz, Scott Carter, Harvey Mamon, Jason L Hornick, Eliezer Van Allen, Alan D D'Andrea
PURPOSE: Squamous cell carcinoma of the anal canal (ASCC) accounts for 2-4% of gastrointestinal (GI) malignancies in the US and is increasing in incidence; however, genomic features of ASCC are incompletely characterized. Primary treatment of ASCC involves concurrent chemotherapy and radiation (CRT), but the mutational landscape of resistance to CRT is unknown. Here, we aim to compare mutational features of ASCC in the pre- and post-CRT setting. EXPERIMENTAL DESIGN: We perform whole exome sequencing of primary (n=31) and recurrent (n=31) ASCCs and correlate findings with clinical data...
November 16, 2016: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/27849650/programmed-cell-death-ligand-1-pd-l1-expression-in-anal-cancer
#17
Rangaswamy Govindarajan, Swetha Gujja, Eric R Siegel, Anu Batra, Anwaar Saeed, Keith Lai, Jennifer D James, Bradley J Fogel, Stephen Williamson
OBJECTIVE: To evaluate the expression of programmed cell death-ligand 1 (PD-L1) in anal cancer. PATIENTS AND METHODS: In a retrospective cohort analysis, subjects with squamous cell carcinoma of the anal canal were tested for PD-L1 expression, then followed for recurrence and survival. Crude recurrence rates (CRRs), crude mortality rates (CMRs), and crude event rates (CERs) were assessed for PD-L1-dependent differences using Poisson regression. All 3 types of crude rate were expressed as the number that occurred per hundred person-years (hPY) of follow-up...
November 15, 2016: American Journal of Clinical Oncology
https://www.readbyqxmd.com/read/27847790/synchronous-primary-anorectal-melanoma-and-sigmoid-adenocarcinoma
#18
Inju Cho, Kyung Jong Kim, Sung-Chul Lim
A primary anorectal malignant melanoma is a rare tumor. Moreover, cases involving a synchronous anorectal melanoma and colon adenocarcinoma are extremely rare. The authors report a case of a synchronous anorectal melanoma and sigmoid adenocarcinoma in an 84-year-old man. The regions of the anorectal melanoma showed melanocytic nevi in the adjacent mucosa of the anal canal and rectum. A dysplastic nevus was also identified in the anal mucosa. This case demonstrates that an anorectal melanoma can arise from pre-existing anorectal melanocytic lesions...
October 2016: Annals of Coloproctology
https://www.readbyqxmd.com/read/27809887/successful-endoscopic-treatment-of-stapled-j-pouch-ileoanal-canal-anastomotic-hemorrhage-by-argon-plasma-coagulation-a-case-report
#19
Takeshi Nishikawa, Keisuke Hata, Shuntaro Yoshida, Koji Murono, Koji Yasuda, Kensuke Otani, Toshiaki Tanaka, Tomomichi Kiyomatsu, Kazushige Kawai, Hiroaki Nozawa, Soichiro Ishihara, Kazuhiko Koike, Toshiaki Watanabe
BACKGROUND: Continuous lower gastrointestinal hemorrhage is a rare condition, but it often requires proper management. We report a case of a patient with gastrointestinal hemorrhage 18 years after stapled J-pouch ileoanal canal anastomosis who was successfully treated with argon plasma coagulation. CASE PRESENTATION: Our patient was a 54-year-old Japanese man who had developed ulcerative colitis 28 years ago. A J-shaped ileal pouch-anal anastomosis with a double-staple technique was indicated 18 years ago when the patient became refractory to the conventional medication...
November 3, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27790516/small-cell-carcinoma-of-anal-canal-a-rare-case-report
#20
Surag, Chandrashekar Neeralagi, Arun Prasath, Puneeth Kumar, Bharath Reddy
Anal canal malignancy is one of the dreadful conditions. Most of the anal canal malignancies are squamous cell carcinomas for which the treatment is well established and the prognosis is usually favourable. Small cell carcinoma of anal canal is a very rare condition and poorly understood, which can present as haemorrhoids in its early stages and has an aggressive course. We present a case of small cell carcinoma of anal canal who underwent Abdomino Perineal Resection (APR) and chemotherapy. He developed liver metastasis during the course of chemotherapy and succumbed to the condition 4 months later...
September 2016: Journal of Clinical and Diagnostic Research: JCDR
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