Concomitant telomere attrition is associated with spinal muscular atrophy in highly inbred region of North India: unraveling the thread in Kashmir region.

Spinal muscular atrophy (SMA) is a rare genetic disorder that unequivocally results in the degeneration of motor neurons, leading to muscle weakness and atrophy. This condition is caused by a mutation in the survival motor neuron 1 (SMN1) gene, which inevitably results in a deficiency of the SMN protein. In present study, we investigated the potential role of telomere attrition in SMA patients.

Comprehensive Analysis of Craniopharyngioma: Epidemiology, Clinical Characteristics, Management Strategies, and Role of Radiotherapy.

Background/aim: Craniopharyngiomas pose challenges in diagnosis and management due to their rare occurrence and diverse clinical manifestations. This study aimed to provide a comprehensive analysis of cranio-pharyngioma, including its epidemiological trends, clinical presentations, radiological characteristics, surgical interventions, and the role of radiotherapy.

Patients And Methods: A retrospective observational study was conducted on 23 patients diagnosed with craniopharyngioma at our hospital from August 2017 to July 2019.