A rare case of primary signet-ring adenocarcinoma of anorectal region in a young patient: Diagnostic challenges and therapeutic outcomes.

Key Clinical Message: Primary signet-ring cell carcinoma of the anal canal and rectum is an extremely rare and aggressive malignancy. The present case underscores the importance of considering primary signet-ring cell carcinoma in differential diagnoses for young patients with chronic anorectal symptoms. It highlights the need for a multidisciplinary treatment approach (including surgery, chemotherapy, and radiotherapy) and comprehensive follow-up for managing this challenging condition and improving long-term patient outcomes. Abstract: Primary signet-ring cell carcinoma of the anal canal and rectum is an exceedingly rare subtype of colorectal adenocarcinoma, often originating as an extension of rectal adenocarcinoma. This malignancy constitutes a small fraction of colorectal cancers and is scarcely reported in medical literature. We present the case of an 18-year-old male with a three-year history of progressively worsening hematochezia, anorectal pain, and defecation-associated prolapse. Initial conservative treatments failed, leading to further investigations that revealed a palpable, nodular anorectal mass. Imaging studies (including CT and MRI), and biopsy confirmed poorly differentiated adenocarcinoma with signet-ring cell morphology. The tumor exhibited extensive lymphovascular invasion and involved perirectal lymph nodes, and was staged as pT3, N2a. Immunohistochemical staining was positive for CK 7, CK 20, and SATB2, supporting the primary anorectal origin. The treatment regimen included initial diversion colostomies for symptom relief, followed by neoadjuvant chemotherapy with a modified 5-fluorouracil, leucovorin, irinotecan, and oxaliplatin (FOLFIRINOX) regimen and concurrent chemoradiation with Xeloda. The patient subsequently underwent an abdominoperineal resection (APR), which confirmed the diagnosis and achieved curative resection. Postoperative complications included transient ileus and wound infection, which were managed with supportive care. This case underscores the diagnostic and therapeutic challenges posed by primary signet-ring cell carcinoma of the anorectal region, highlighting the need for a high index of suspicion and comprehensive diagnostic workup in atypical presentations. The multimodal treatment approach, incorporating surgery, chemotherapy, and radiotherapy, was crucial in managing this locally advanced tumor. The rarity and aggressiveness of this carcinoma necessitate a tailored treatment strategy to improve patient outcomes. Long-term follow-up, including regular imaging and surveillance, is vital for monitoring disease recurrence and evaluating treatment effectiveness.

Precision medicine in peripartum cardiomyopathy: advancing diagnosis and management through genomic and phenotypic integration.

Peripartum cardiomyopathy (PPCM) is a rare and life-threatening cardiac condition characterized by heart failure due to left ventricular systolic dysfunction, often developing in late pregnancy or the early postpartum period. Despite being a leading cause of maternal morbidity and mortality, clinical presentation of PPCM frequently overlaps with normal pregnancy-related physiological changes, causing diagnostic delays and increased complications. Current management strategies, primarily derived from general heart failure protocols, are evolving to address the unique aspects of PPCM. This includes the development of personalized medicine approaches that integrate genetic profiling, biomarker evaluation, and clinical phenotyping. Notable genes such as titin (TTN), Bcl2-associated athanogene 3 (BAG3), and lamin A/C (LMNA) are implicated in PPCM, revealing a complex genetic landscape similar to other cardiomyopathies. Biomarkers like N-terminal pro-brain-type natriuretic peptide (NT-proBNP) and cardiac troponin T (cTnT) are under investigation for their diagnostic and prognostic value, indicating that personalized treatments hold the promise of enhancing diagnostic precision and therapeutic outcomes by tailoring interventions to individual patient profiles. This review article aims to highlight how integrating genetic and phenotypic data can establish a novel framework for managing PPCM, potentially transforming treatment paradigms and improving long-term outcomes.

Postoperative radiotherapy for high-grade primary cardiac spindle cell sarcoma: a rare entity.

A patient in her early 20s presented with blood-stained sputum and shortness of breath. Initially, she was treated for pneumonia. Later, upon exacerbation of symptoms, further investigations were done which exhibited a left atrial mass causing compression of contralateral atrium. She underwent surgical resection of the mass, which was initially mistaken as myxoma. However, histopathological correlation revealed spindle cell sarcoma with focal myogenic differentiation. This case report highlights the role of Radiation Therapy in adjuvant setting with promising impact on improving local control after R2 resection. Cardiac spindle cell sarcoma, being one of the rarest cardiac tumours reported to date, warrants establishment of a Rare Tumour Multidisciplinary Team for management of such malignancies.

Antineutrophil Cytoplasmic Antibody (ANCA)-Associated Renal Vasculitis After COVID-19 Infection: A Case Report.

Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis is a class of autoimmune diseases that can cause kidney failure because of mononuclear cell infiltration and the destruction of small and medium-sized blood vessels. Coronavirus disease 2019 (COVID-19) may trigger or exacerbate autoimmune diseases. We present a case of ANCA-associated vasculitis in a patient with rheumatoid arthritis after a COVID-19 infection, who presented with intermittent hemoptysis and dyspnea and was diagnosed with COVID-19 pneumonia three weeks ago. Her clinical, radiological, and serological picture was concerned with pulmonary-renal syndrome. Her serum was positive for antinuclear antibody and ANCAs, and renal biopsy showed pauci-immune crescentic glomerulonephritis. She was diagnosed clinicopathologically with pauci-immune glomerulonephritis in the setting of rheumatoid arthritis (RA) after a COVID-19 infection. Her condition improved after she was treated with rituximab and pulse dose methylprednisolone.

Population-attributable estimates for risk factors associated with hepatitis B and C: policy implications for Pakistan and other South Asian countries.

INTRODUCTION: Reuse of contaminated syringes, high frequency of injections, tattooing and skin piercing have repeatedly been shown to be important and independent risk factors for the transmission of hepatitis B (HBV) and C (HCV) infections in South Asian countries. Estimation of population-attributable risks indicates the potential for hepatitis prevention if the exposure to certain modifiable factors can be eliminated. METHODS: We estimated the population-attributable risks of various risk factors for transmission of HBV and HCV using data from a large, nationally representative survey conducted in 2007 across Pakistan, a country known to have a high prevalence of chronic viral hepatitis. Odds ratio estimates and observed prevalence of the risk factors were used for calculating PAR estimates. We also performed a systematic review of published studies that identify the prevalence of similar modifiable risk factors for HBV and HCV from other South Asian countries in order to define an overall prevention strategy for the region. RESULTS: For HBV, a high frequency (>10) of therapeutic injections in the past 1 year had an attributable risk of 3.5 % (95 % CI 2.9-3.9), reuse of syringes had a 2.7 % risk (95 % CI 2.2-3.1), the practice of being shaved by a barber 2.1 % (95 % CI 1.7-2.6), sharing of smoking utensils 4.4 % (95 % CI 3.8-4.9) and ear/nose piercing 1.4 % (95 % CI 1.2-1.7). Population-attributable risks for HCV were as follows: high frequency of therapeutic injections in the past 1 year 11.3 % (95 % CI 10.5-11.7), reuse of syringes 6.2 % (95 % CI 6.1-6.9), practice of being shaved by a barber shop 7.9 % (95 % CI 7.1-8.2), sharing of smoking utensils 8.1 % (95 % CI 6.9-8.5), practice of ear/nose piercing among females 5.9 % (95 % CI 5.2-6.1) and tattooing 5 % (95 % CI 4.3-5.6). A systematic review showed that other South Asian countries share a number of common risk factors for the transmission of viral hepatitis. CONCLUSION: A substantial number of HBV and HCV infections in Pakistan and other South Asian countries can be prevented by key interventions targeted toward a few selected and modifiable risk factors. Hence, policies specifically targeted at key risk factors for HBV and HCV such as safe and rational use of injections prescribed by trained health-care providers are urgently needed for countries like Pakistan.