A Case Reported With 46, XX Testicular Disorders Of Sexual Development And Its Possible Association With Dysembryoplastic Neuroepithelial Tumour.

The main factor determining differentiation of bipotential gonads into testes or ovaries is the presence or absence of SRY (sex-determining region on Y chromosome) gene. De la Chapelle syndrome is a chromosomal anomaly with chromosomal makeup of a female (46, XX) and phenotypic presentation of a male. Previously known as XX sex reversal, it is now called 46, XX testicular disorders of sexual development (DSD). Although rare, it presents as a major chromosomal anomaly, with SRY gene crossover proposed as an underlying aetiology in most patients. We report the case of a 25-year-old male who presented with infertility and was diagnosed with De 46, XX testicular DSD. He has a previous history of resected dysembryoplastic neuroepithelial tumour (DNT). The differential diagnosis of 46, XX DSD and possible association/coincidental finding of DNT have been discussed. Karyotyping should be a part of the workup for every patient who presents with infertility and has azoospermia and hypergonadotropic hypogonadism.

Endoscopic closure of a recto-pelvic fistula with a cardiac septal occluder device.

Video 1Endoscopic closure of a recto-pelvic fistula with a cardiac septal occluder device in a patient for whom other surgical and endoscopic interventions had failed.

Gender and Racial Differences in the Provision of Palliative Care Services Among Critically ill Necrotizing Fasciitis and Septic Shock Geriatric Patients: Analysis of a Nationwide Database in the United States.

Introduction: Necrotizing fasciitis (NF) and sepsis shock (SS) are both severe and life-threatening conditions requiring specialized care, including palliative care (PC), to optimize comfort. However, data on the utilization of PC in this population, including racial and gender differences, are limited. Methods: We used the National Inpatient Sample (NIS) database from 2016 to 2020 to extract data on patients with NF and SS as well as PC utilization. Chi-squared tests and multivariate linear regression models were utilized to analyze relationships between categorical and continuous variables, respectively. Multivariable logistic regression was used to determine adjusted odds ratios (aORs) and 95% confidence intervals (CI) for various outcomes among various gender and racial groups. Mann-Kendall trend test was used to assess mortality trends over time. Results: Among the 11,260 patients with NF and SS, 2,645 received PC whereas 8,615 did not. Female patients had significantly higher odds of receiving PC versus males (aOR: 1.42, 95% CI 1.27-1.58). No significant racial differences in PC utilization were observed. Patients receiving PC had higher odds of in-hospital mortality (aOR: 1.18, 95% CI 1.03-1.35). No significant trend in in-hospital deaths was observed over the study period. PC was associated with significantly shorter length-of-stay and lower costs. Conclusion: Our study provides comprehensive insights, and identifies gender differences in PC utilization in NF and SS patients. Further research must aim to refine delivery strategies and address potential differences in PC.

Temporal trends in mortality location in patients with anal cancer in the USA: an analysis of the National Center for Health Statistics mortality data.

OBJECTIVES: Investigate trends in where patients died of anal cancer in the USA. METHODS: Retrospective cohort study using the US National Center for Health Statistics Wide-Ranging ONline Data for Epidemiologic Research platform from 2003 to 2020; all patients with death certificates listing anal cancer as the underlying cause of death in the USA. Main outcome measure of location of patient death: inpatient facility, home, hospice, nursing home/long-term care facility and other. RESULTS: There were a total of 16 296 deaths with anal cancer as the underlying diagnosis during the study period. The crude rate increased from 0.191 per 100 000 deaths in 2003 to 0.453 per 100 000 deaths in 2020. Over the study period, 22.4% of patient deaths occurred in inpatient facilities, 44.9% at home, 12.2% at hospice facilities and 13.1% at nursing homes/long-term care facilities. The percentage of deaths occurring in hospice facilities increased from 1.0% to 13.3% during the study period. Deaths at home also increased from 42.7% in 2003 to 55.8% in 2020. Meanwhile, inpatient deaths decreased from 33.5% in 2003 to 14.4% in 2020. CONCLUSIONS: There has been a significant increase in the proportion of patients with anal cancer dying at home or hospice from 2003 to 2020.

Terminal Ileitis as the Presenting Feature of Henoch-Schönlein Purpura in a 22-Year-Old Male.

Henoch-Schönlein purpura (HSP) is a self-limited vasculitis that affects children and the preadolescent population. It is characterized by the deposition of immunoglobulin A immune complexes in tissues leading to palpable purpura, abdominal pain, arthritis, and nephropathy. When it occurs in adults, the clinical manifestations are the same; however, adults present with more significant renal involvement. While abdominal pain is the most common gastrointestinal (GI) manifestation, it can also present with GI bleeding, intussusception, bowel ischemia, and bowel perforation. Here, we report the case of a 22-year-old gentleman who presented with nonspecific GI complaints such as nausea, vomiting, and loose stools. He was later found to have terminal ileitis preceding the onset of rash, the biopsy of which confirmed HSP. Terminal ileitis is a rare GI manifestation of HSP and is not very commonly reported in the literature.