Bilateral acetabular fractures resulting from trauma are rare and complicated, owing to the distinct forces involved and the unique patterns of the fractures. Despite the severity of these injuries, literature on bilateral acetabular fractures remains limited, with most studies focusing on unilateral cases. Consequently, there is a lack of comprehensive data regarding the optimal treatment protocols, expected functional outcomes and long-term prognosis for patients with bilateral involvement. This study was undertaken to address this gap by systematically evaluating both radiological and functional outcomes in patients with bilateral acetabular fractures. This prospective study conducted over period of 3 years from Jan 2022 to Jan 2025 included 410 patients with pelvic and acetabular fractures, of whom 274 had acetabular fractures, including 24 cases (8.8
Laparoscopy myomectomy is the most commonly performed fertility enhancing laparoscopic surgery in patients with uterine factor infertility. Some myomas present as hereditary leiomyomatosis which is an autosomal dominant disorder associated with renal cell cancer tumor. This syndrome is caused by germline mutations in the fumarate hydratase (FH) gene. These hereditary myomas occur 10 year earlier than sporadic one and also have predisposition to early onset, papillary aggressive renal cell cancer. We report the case of a of 33-year-old P1001 young lady diagnosed presented with symptomatic fibroid uterus managed with laparoscopic myomectomy and the histopathology report came out to be fumarate hydratase associated leiomyoma. This case underscores the rare occurrence of familial uterine leiomyoma manifesting in early reproductive years. Atypical feature of this case is that there was no family history in first degree relatives which is generally present in patients with mutations involving fumarate hydratase (FH) gene or other genetic pathways. Early recognition is essential for timely counseling, fertility preservation, and individualized management. Review of literature suggests that familial cases often present earlier, with larger and more numerous fibroids compared to sporadic cases. Familial uterine leiomyoma, though rare, should be considered in young women with multiple fibroids and a positive family history. Genetic counseling and tailored treatment strategies may improve reproductive outcomes and reduce disease burden.
Reverse brain herniation (RBH) is a rare but catastrophic complication following cerebrospinal fluid (CSF) diversion in patients with posterior fossa tumours associated with obstructive hydrocephalus. It carries high mortality and remains underreported. The role of preoperative CSF diversion in such cases continues to be controversial. We report a case of a 2-year-old female with a fourth ventricular tumour presenting with acute decompensated obstructive hydrocephalus who underwent emergency ventriculoperitoneal (VP) shunt placement. Postoperatively, the patient failed to show neurological improvement, and imaging revealed features consistent with reverse brain herniation. She underwent urgent posterior fossa decompression with tumour excision within 6 h, resulting in gradual neurological recovery. Histopathology confirmed CNS WHO Grade III ependymoma. The patient later developed tumour recurrence requiring re-excision and is currently undergoing adjuvant radiotherapy. This case underscores the importance of vigilant postoperative monitoring following CSF diversion in posterior fossa tumours and highlights that early recognition and prompt surgical intervention can significantly improve outcomes in this otherwise highly fatal condition.
Peripheral outreach genetic programs are critical for optimizing healthcare, particularly in rural and underserved regions, especially for rare diseases. The patients suffering from rare diseases face multiple challenges besides diagnostic odyssey, paucity of epidemiological data, precise definitions and management issues. Public health genetics may significantly mitigate healthcare disparities by offering specialized services for early diagnosis, and proactive management of genetic disorders. The integration of advanced technologies, including telemedicine, mobile health applications, digital genetic assistants, and artificial intelligence, greatly enhances the accessibility and efficiency of these programs. Successful models nationally and globally have demonstrated effectiveness of proactive, community-focused interventions addressing prevalent health conditions, integrating genetic components into broader public health strategies. Community engagement, culturally sensitive approaches, and involvement of local health workers ensure the effectiveness and acceptability of outreach initiatives. Furthermore, integrating pharmacogenomics and personalized medicine into peripheral settings can significantly improve patient outcomes and healthcare economics by optimizing resource allocation. Financial sustainability through innovative funding models and public-private partnerships is essential for program viability and sustainability. Economic analyses underline the cost-effectiveness of genetic screening and interventions, emphasizing substantial healthcare savings. Ethical considerations around informed consent, multilingual communication, and data privacy remain crucial for equitable implementation. Future genetic outreach programs are expected to increasingly leverage GenomeIndia data, genomic based screening, AI and digital technologies, further personalizing healthcare delivery and enhancing the efficacy of genetic risk assessment and facilitating management in remote regions. This article explores the role of genetic outreach programs in optimizing care to the disadvantaged population suffering from hereditary conditions.
