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Nature Reviews. Disease Primers Oct 2023Hirschsprung disease (HSCR) is a rare congenital intestinal disease that occurs in 1 in 5,000 live births. HSCR is characterized by the absence of ganglion cells in the... (Review)
Review
Hirschsprung disease (HSCR) is a rare congenital intestinal disease that occurs in 1 in 5,000 live births. HSCR is characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the intestine. Most patients present during the neonatal period with the first meconium passage delayed beyond 24 h, abdominal distension and vomiting. Syndromes associated with HSCR include trisomy 21, Mowat-Wilson syndrome, congenital central hypoventilation syndrome, Shah-Waardenburg syndrome and cartilage-hair hypoplasia. Multiple putative genes are involved in familial and isolated HSCR, of which the most common are the RET proto-oncogene and EDNRB. Diagnosis consists of visualization of a transition zone on contrast enema and confirmation via rectal biopsy. HSCR is typically managed by surgical removal of the aganglionic bowel and reconstruction of the intestinal tract by connecting the normally innervated bowel down to the anus while preserving normal sphincter function. Several procedures, namely Swenson, Soave and Duhamel procedures, can be undertaken and may include a laparoscopically assisted approach. Short-term and long-term comorbidities include persistent obstructive symptoms, enterocolitis and soiling. Continued research and innovation to better understand disease mechanisms holds promise for developing novel techniques for diagnosis and therapy, and improving outcomes in patients.
Topics: Infant, Newborn; Humans; Hirschsprung Disease; Down Syndrome; Waardenburg Syndrome; Anal Canal; Intellectual Disability
PubMed: 37828049
DOI: 10.1038/s41572-023-00465-y -
Abdominal Radiology (New York) Sep 2023The Society of Abdominal Radiology's Colorectal and Anal Cancer Disease-Focused Panel (DFP) first published a rectal cancer lexicon paper in 2019. Since that time, the... (Review)
Review
The Society of Abdominal Radiology's Colorectal and Anal Cancer Disease-Focused Panel (DFP) first published a rectal cancer lexicon paper in 2019. Since that time, the DFP has published revised initial staging and restaging reporting templates, and a new SAR user guide to accompany the rectal MRI synoptic report (primary staging). This lexicon update summarizes interval developments, while conforming to the original lexicon 2019 format. Emphasis is placed on primary staging, treatment response, anatomic terminology, nodal staging, and the utility of specific sequences in the MRI protocol. A discussion of primary tumor staging reviews updates on tumor morphology and its clinical significance, T1 and T3 subclassifications and their clinical implications, T4a and T4b imaging findings/definitions, terminology updates on the use of MRF over CRM, and the conundrum of the external sphincter. A parallel section on treatment response reviews the clinical significance of near-complete response and introduces the lexicon of "regrowth" versus "recurrence". A review of relevant anatomy incorporates updated definitions and expert consensus of anatomic landmarks, including the NCCN's new definition of rectal upper margin and sigmoid take-off. A detailed review of nodal staging is also included, with attention to tumor location relative to the dentate line and locoregional lymph node designation, a new suggested size threshold for lateral lymph nodes and their indications for use, and imaging criteria used to differentiate tumor deposits from lymph nodes. Finally, new treatment terminologies such as organ preservation, TNT, TAMIS and watch-and-wait management are introduced. This 2023 version aims to serve as a concise set of up-to-date recommendations for radiologists, and discusses terminology, classification systems, MRI and clinical staging, and the evolving concepts in diagnosis and treatment of rectal cancer.
Topics: Humans; Rectal Neoplasms; Anus Neoplasms; Rectum; Neoplasm Staging; Magnetic Resonance Imaging; Radiology
PubMed: 37145311
DOI: 10.1007/s00261-023-03893-2 -
The Surgical Clinics of North America Dec 2023Anorectal emergencies are rare presentations of common anorectal disorders, and surgeons are often called on to assist in their diagnosis and management. Although most... (Review)
Review
Anorectal emergencies are rare presentations of common anorectal disorders, and surgeons are often called on to assist in their diagnosis and management. Although most patients presenting with anorectal emergencies can be managed nonoperatively or with a bedside procedure, surgeons must also be able to identify surgical anorectal emergencies, such as gangrenous rectal prolapse. This article provides a review of pertinent anatomy; examination techniques; and workup, diagnosis, and management of common anorectal emergencies including thrombosed hemorrhoids, incarcerated hemorrhoids, anal fissure, anorectal abscess, rectal prolapse, and pilonidal abscess and unique situations including rectal foreign body and anorectal sexually transmitted infections.
Topics: Humans; Hemorrhoids; Rectal Prolapse; Abscess; Emergencies; Rectal Diseases; Anus Diseases; Fissure in Ano
PubMed: 37838461
DOI: 10.1016/j.suc.2023.05.014 -
Primary Care Sep 2023Benign conditions of the colon and rectum are a heterogeneous group of conditions that range from inflammatory to infectious to pelvic floor health conditions that... (Review)
Review
Benign conditions of the colon and rectum are a heterogeneous group of conditions that range from inflammatory to infectious to pelvic floor health conditions that affect large segments of the US population. These conditions include diverticular disease, hemorrhoids, and anorectal lesions. The initial presentation of these very common conditions often occurs in the outpatient primary care setting, and most can be managed by the primary care clinician. This article will provide an overview on the prevalence, diagnosis, and management of some of the most common benign colorectal disorders; these are broadly divided into diverticular disease, hemorrhoids, and anorectal conditions.
Topics: Humans; Hemorrhoids; Fissure in Ano; Diverticular Diseases; Ambulatory Care; Colorectal Neoplasms
PubMed: 37516514
DOI: 10.1016/j.pop.2023.03.011 -
Journal of Surgical Oncology Sep 2023Anorectal melanoma is an aggressive mucosal melanoma subtype with a poor prognosis. Although recent advancements have been seen for cutaneous melanoma, the optimal... (Review)
Review
Anorectal melanoma is an aggressive mucosal melanoma subtype with a poor prognosis. Although recent advancements have been seen for cutaneous melanoma, the optimal treatment paradigm for management of anorectal melanoma is evolving. In this review, we highlight differences in the pathogenesis of mucosal versus cutaneous melanoma, new concepts of staging for mucosal melanoma, updates to surgical management of anorectal melanoma, and current data for adjuvant radiation and systemic therapy in this unique patient population.
Topics: Humans; Melanoma; Skin Neoplasms; Rectal Neoplasms; Anus Neoplasms; Melanoma, Cutaneous Malignant
PubMed: 37395165
DOI: 10.1002/jso.27381