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Pediatric Research Apr 2024The mechanism underlying anorectal malformations (ARMs)-related VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, and renal and limb... (Review)
Review
The mechanism underlying anorectal malformations (ARMs)-related VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, and renal and limb abnormalities) remains unclear. Copy number variation (CNV) contributed to VACTERL pathogenicity. Here, we report a novel CNV in 8p23 and 12q23.1 identified in a case of ARMs-related VACTERL association. This 12-year-old girl presented a cloaca (urethra, vagina, and rectum opening together and sharing a single tube length), an isolated kidney, and a perpetuation of the left superior vena cava at birth. Her intelligence, growth, and development were slightly lower than those of normal children of the same age. Array comparative genomic hybridization revealed a 9.6-Mb deletion in 8p23.1-23.3 and a 0.52-Mb duplication in 12q23.1 in her genome. Furthermore, we reviewed the cases involving CNVs in patients with VACTERL, 8p23 deletion, and 12q23.1 duplication, and our case was the first displaying ARMs-related VACTERL association with CNV in 8p23 and 12q23.1. These findings enriched our understanding between VACTERL association and the mutations of 8p23 deletion and 12q23.1 duplication. IMPACT: This is a novel case of a Chinese girl with anorectal malformations (ARMs)-related VACTERL with an 8p23.1-23.3 deletion and 12q23.1 duplication. Cloaca malformation is presented with novel copy number variation in 8p23.1-23.3 deletion and 12q23.1 duplication.
Topics: Humans; Female; Limb Deformities, Congenital; Anal Canal; Child; Spine; Esophagus; DNA Copy Number Variations; Trachea; Heart Defects, Congenital; Chromosomes, Human, Pair 8; Chromosomes, Human, Pair 12; Genetic Association Studies; Mutation; Comparative Genomic Hybridization; Kidney; Cloaca; Phenotype; Abnormalities, Multiple
PubMed: 38135728
DOI: 10.1038/s41390-023-02928-0 -
Sexually Transmitted Infections Feb 2024A gay man with well-controlled HIV and vaccinated against mpox presented with severe proctitis. Testing revealed anorectal mpox, herpes simplex virus, lymphogranuloma...
A gay man with well-controlled HIV and vaccinated against mpox presented with severe proctitis. Testing revealed anorectal mpox, herpes simplex virus, lymphogranuloma venereum, and Serology was indicative of infectious syphilis. This case highlights the need to consider a wide range of concurrent sexually transmitted infections in patients with proctitis, including those vaccinated against mpox.
Topics: Male; Humans; Lymphogranuloma Venereum; Syphilis; Gonorrhea; Mycoplasma genitalium; Mpox (monkeypox); Proctitis; Simplexvirus; HIV Infections; Homosexuality, Male
PubMed: 38124214
DOI: 10.1136/sextrans-2023-056033 -
Canada Communicable Disease Report =... Feb 2023Tecovirimat (TCV, TPOXX) is an orthopox-specific antiviral drug indicated for the treatment of smallpox. There is also a mechanistic basis for its use in mpox infection....
BACKGROUND
Tecovirimat (TCV, TPOXX) is an orthopox-specific antiviral drug indicated for the treatment of smallpox. There is also a mechanistic basis for its use in mpox infection. However, its approval was based on animal studies, and its efficacy and side-effect profile in human patients with disease is unknown.
METHODS
During the 2022 international mpox epidemic, clinicians in Canada accessed TCV from the Public Health Agency of Canada's National Emergency Strategic Stockpile for severe cases of mpox disease. We describe the use of TCV in nine adults with severe mpox virus infection in Montréal, Canada.
RESULTS
Five patients were treated for severe and potentially life-threatening head and neck symptoms, while four were treated for genitourinary or anorectal disease. Two-thirds of patients were also treated for suspected bacterial superinfection. All patients recovered (median time to resolution of severe symptoms: nine days) without relapse or hospital readmission. No patients reported adverse events attributable to TCV and no patients stopped their treatment early.
CONCLUSION
Our experience suggests that TCV is well tolerated and may accelerate recovery in severe cases. These preliminary, observational data may also be explained by concomitant treatment for superinfection and are limited by the absence of a control group. Controlled, clinical trials should be conducted to clarify the attributable benefit of TCV in severe mpox infection.
PubMed: 38090723
DOI: No ID Found -
European Journal of Surgical Oncology :... Jan 2024Laparoscopic surgery is controversial for patients with clinical T4b colorectal cancer (CRC) who require multivisceral resection (MVR). This study aims to explore and...
Comparison of short- and long-term outcomes between laparoscopic and open multivisceral resection for clinical T4b colorectal cancer: A multicentre retrospective cohort study in China.
BACKGROUND
Laparoscopic surgery is controversial for patients with clinical T4b colorectal cancer (CRC) who require multivisceral resection (MVR). This study aims to explore and compare the safety and long-term oncological outcomes of laparoscopic surgery and open surgery for patients with clinical T4b CRC.
MATERIALS AND METHODS
This study was a retrospective cohort study based on a multicentre database. According to the operation method, the patients were divided into a laparoscopic MVR group and an open MVR group. The short-term and long-term outcomes were compared.
RESULTS
From January 2010 to December 2021, a total of 289 patients in the laparoscopic MVR group and 349 patients in the open MVR group were included. After propensity score matching, patients were stratified into a laparoscopic MVR group (n = 163) and an open MVR group (n = 163). Compared with the open MVR group, the laparoscopic MVR group had less blood loss (100 vs. 200, p < 0.001), a shorter time to first flatus (3 vs. 4, P < 0.001), a shorter postoperative hospital stay (10 vs. 12, P < 0.001), and a lower incidence of surgical site infection (2.5 % vs. 8.0 %, P = 0.043). The Kaplan-Meier curves showed that the two groups had similar overall survival (P = 0.283) and disease-free survival (P = 0.152).
CONCLUSION
Compared with open MVR, laparoscopic MVR had less blood loss, fewer surgical site infection complications, faster recovery and a shorter hospital stay. The long-term survival outcome of laparoscopic MVR was not inferior to that of open MVR.
Topics: Humans; Treatment Outcome; Surgical Wound Infection; Retrospective Studies; Laparoscopy; Colorectal Neoplasms
PubMed: 38086316
DOI: 10.1016/j.ejso.2023.107316 -
Annals of Surgery Mar 2024This study evaluated the postoperative mortality and morbidity outcomes following the different subtypes of gastrointestinal (GI) surgery over a 15-year period.
OBJECTIVE
This study evaluated the postoperative mortality and morbidity outcomes following the different subtypes of gastrointestinal (GI) surgery over a 15-year period.
BACKGROUND
Patients receiving chronic kidney replacement therapy (KRT) experience higher rates of general surgery compared with other surgery types. Contemporary data on the types of surgeries and their outcomes are lacking. KRT was defined as patients requiring chronic dialysis (hemodialysis or peritoneal dilaysis) or having a functioning kidney transplant long-term.
METHODS
All incident and prevalent patients aged greater than 18 years identified in the Australia and New Zealand Dialysis and Transplant (ANZDATA) Registry as receiving chronic KRT were linked with jurisdictional hospital admission datasets between January 1, 2000 until December 31, 2015. Patients were categorized by their KRT modality [hemodialysis (HD), peritoneal dialysis (PD), home hemodialysis (HHD), and kidney transplant (KT)]. GI surgeries were categorized as upper gastrointestinal (UGI), bowel (small and large bowel), anorectal, hernia surgery, cholecystectomy, and appendicectomy. The primary outcome was the rates of the different surgeries, estimated using Poisson models. Secondary outcomes were risks of 30-day/in-hospital postoperative mortality risk and nonfatal outcomes and were estimated using logistic regression. Independent predictors of 30-day mortality were examined using comorbidity-adjusted Cox models.
RESULTS
Overall, 46,779 patients on chronic KRT were linked to jurisdictional hospital datasets, and 9,116 patients were identified as having undergone 14,540 GI surgeries with a combined follow-up of 76,593 years. Patients on PD had the highest rates of GI surgery (8 per 100 patient years), with hernia surgery being the most frequent. Patients on PD also had the highest risk of 30-day postoperative mortality following the different types of GI surgery, with the risk being more than 2-fold higher after emergency surgery compared with elective procedures. Infective postoperative complications were more common than cardiac complications. This study also observed a U-shaped association between body mass index (BMI) and mortality, with a nadir in the 30 to 35 kg/m 2 group.
CONCLUSIONS
Patients on chronic KRT have high rates of GI surgery and morbidity, particularly in those who receive PD, are older, or are either underweight or moderately obese.
Topics: Humans; Aged; Kidney Failure, Chronic; Cohort Studies; Digestive System Surgical Procedures; Renal Dialysis; Renal Replacement Therapy; Hernia
PubMed: 38084600
DOI: 10.1097/SLA.0000000000006179 -
Sexually Transmitted Infections Jan 2024We aimed to determine the prevalence of anorectal (NG) and (CT) among transgender women in Brazil, and to assess the performance and costs of various approaches for...
Anorectal gonorrhoea and chlamydia among transgender women in Brazil: prevalence and assessment of performance and cost of anorectal infection detection and management approaches.
OBJECTIVES
We aimed to determine the prevalence of anorectal (NG) and (CT) among transgender women in Brazil, and to assess the performance and costs of various approaches for the diagnosis and management of anorectal NG/CT.
METHODS
TransOdara was a multicentric, cross-sectional STI prevalence study among 1317 transgender women conducted in five capital cities representing all Brazilian regions. Participants aged 18 years were recruited using respondent-driven sampling (RDS), completed an interviewer-led questionnaire, offered an optional physical examination and given choice between self-collected or provider-collected samples for NG/CT testing. Performance and cost indicators of predetermined management algorithms based on the WHO recommendations for anorectal symptoms were calculated.
RESULTS
Screening uptake was high (94.3%) and the estimated prevalence of anorectal NG, CT and NG and/or CT was 9.1%, 8.9% and 15.2%, respectively. Most detected anorectal NG/CT infections were asymptomatic (NG: 87.6%, CT: 88.9%), with a limited number of participants reporting any anorectal symptoms (9.1%). Of those who permitted anal examination, few had clinical signs of infection (13.6%). Sensitivity of the tested algorithms ranged from 1.4% to 5.1% (highest for treatment based on the reported anorectal discharge or ulcer and receptive anal intercourse (RAI) in the past 6 months) and specificity from 98.0% to 99.3% (highest for treatment based on the reported anorectal discharge with clinical confirmation or report of RAI). The estimated cost-per-true case of anorectal NG/CT infection treated varied from lowest providing treatment for anorectal discharge syndrome based on the reported RAI ($2.70-4.28), with algorithms including clinical examinations decreasing cost-effectiveness.
CONCLUSIONS
High prevalence of mostly asymptomatic anorectal NG and CT was observed among Brazilian transgender women. Multi-site NG/CT screening should be offered to transgender women. Where diagnostic testing capacity is limited, syndromic management for those presenting with anorectal symptoms is recommended.
Topics: Humans; Female; Male; Gonorrhea; Brazil; Transgender Persons; Prevalence; Cross-Sectional Studies; Chlamydia Infections; Neisseria gonorrhoeae; Chlamydia trachomatis; Gastrointestinal Diseases; Homosexuality, Male
PubMed: 38050133
DOI: 10.1136/sextrans-2023-055788 -
The Journal of Infectious Diseases Mar 2024The 2022 mpox outbreak primarily involved sexual transmission among men who have sex with men and disproportionately affected persons with human immunodeficiency virus...
The 2022 mpox outbreak primarily involved sexual transmission among men who have sex with men and disproportionately affected persons with human immunodeficiency virus (HIV). We examined viral dynamics and clinical features in a cohort evaluated for mpox infection at a comprehensive HIV clinic in Atlanta, Georgia. Viral DNA was found in 8 oropharyngeal and 5 anorectal specimens among 10 mpox cases confirmed by lesion swab polymerase chain reaction. Within-participant anatomic site of lowest cycle threshold (Ct) value varied, and lower Ct values were found in oropharyngeal and anorectal swabs when corresponding symptoms were present. This provides insight into mpox infection across multiple anatomic sites among people with HIV.
Topics: Male; Humans; Homosexuality, Male; Mpox (monkeypox); Sexual and Gender Minorities; Ambulatory Care Facilities; HIV Infections
PubMed: 38019187
DOI: 10.1093/infdis/jiad530 -
Cancer Control : Journal of the Moffitt... 2023The epidemiology of human papillomavirus (HPV)-associated cancers has changed since the development of the multivalent vaccine. This is evidenced by the decline in...
INTRODUCTION
The epidemiology of human papillomavirus (HPV)-associated cancers has changed since the development of the multivalent vaccine. This is evidenced by the decline in incidence of cervical cancers in the post-vaccine era. By contrast, studies have reported the rise in incidence of these cancers in males. Though little is known regarding HPV-associated cancers in males, Hispanic males have been largely excluded from research on these cancers.
OBJECTIVE
The purpose of this study was to examine the differences in late-stage diagnosis of HPV-associated cancers (oropharyngeal, anorectal, or penile) among subgroups of Hispanic males in the U.S.
METHODS
We performed a population-based retrospective cohort study using the 2005-2016 North American Association of Central Cancer Registries Cancer in North America Deluxe data file (n = 9242). Multivariable logistic regression modeling was used in studying late-stage diagnosis.
RESULTS
There were no differences in late-stage diagnosis of oropharyngeal cancer between Hispanic subgroups. Higher odds of late-stage penile cancers were observed among Mexican and Puerto Rican males relative to European Spanish males. Lower odds of late-stage anorectal cancers were observed among Central or South American and Puerto Rican males. Having Medicaid or no insurance were associated with late-stage diagnosis for all cancers.
CONCLUSION
Certain subgroups of Hispanic males have higher odds of late-stage HPV-associated cancer diagnosis based on country of origin and insurance status. These findings call for improved efforts to increase HPV vaccination, particularly among these subgroups of Hispanic males. Efforts to improve health care access and early detection from health care providers are also needed.
Topics: Humans; Male; Hispanic or Latino; Human Papillomavirus Viruses; Papillomavirus Infections; Retrospective Studies; United States; Neoplasms
PubMed: 38015627
DOI: 10.1177/10732748231218088 -
Asian Journal of Surgery Feb 2024
Topics: Humans; Abscess; Anus Diseases; Rectal Diseases
PubMed: 37996380
DOI: 10.1016/j.asjsur.2023.10.124 -
Medicine Nov 2023Perianal abscess is a common disease of the anus and intestine. Surgery is an important treatment option for perianal abscess. However, some patients have a long healing...
RATIONALE
Perianal abscess is a common disease of the anus and intestine. Surgery is an important treatment option for perianal abscess. However, some patients have a long healing time, poor healing effect after surgery, or even pseudo-healing. Platelet-rich plasma (PRP) is rich in platelets that can release a large number of factors when activated and promote wound healing. Moreover, there are few reports on the use of PRP for wounds that are difficult to heal after perianal abscess surgery.
PATIENT CONCERNS
The patient had reported a complaint of perianal swelling and discomfort associated with anal pain, which was considered a perianal abscess. Ceftriaxone, fumigation, and sitz bath were administered after mixed hemorrhoid and perianal abscess surgeries were performed; however, the wound remained unhealed for more than 3 months, and there was a fistula under the skin.
DIAGNOSIS
Perianal color ultrasonography revealed perianal abscess.
INTERVENTIONS
Autologous PRP treatment was performed 5 times for each patient.
OUTCOMES
The postoperative wound healed within 15 days after 5 times PRP treatments.
LESSONS
PRP is a novel treatment option for pseudo-healing.
Topics: Humans; Abscess; Rectal Fistula; Anus Diseases; Skin; Platelet-Rich Plasma; Skin Diseases; Treatment Outcome
PubMed: 37986293
DOI: 10.1097/MD.0000000000035996