Objective: To explore the diagnostic features and inheritance patterns of spinal muscular atrophy (SMA) in children at three tertiary care public hospitals. Study Design: Retrospective study. Setting: HITEC Institute of Medical Sciences Taxila Cantt. Period: January 2022 to March 2022. Material & Methods: A retrospective review of the medical records of the past ten years from January 2011 to December 2020 of three tertiary care public hospitals was conducted. Socio-demographic characteristics, consanguinity, and diagnostic features (including genetic investigation) were also considered. Results: A total of 70 children were diagnosed with SMA during the research study period and the most prevalent variation found among them was Werdnig Hoffmanver illness (SMA type I), affecting 40-57 percent of the children. The study found that 67 percent of the research group showed a high level of paternal consanguinity. The deletion of a gene, survival motor neuron (SMN1) was discovered in 21 (88%) genetically tested children out of 24, while 17 (71%) genetically studied patients were found to be positive for the deletion of specific apoptotic proteins called neuronal apoptosis inhibitory proteins (NAIP). Conclusion: In our study, SMA type 1 is the most prevalent. This piece of literature emphasizes the importance of antenatal detection and the need to increase awareness among high-risk societies with prevalent consanguineous marriages like Pakistan to lessen the disease load.

Background: Research culture includes the way we support and reward research. An important element in developing it is the organization’s approach towards prioritizing research and providing an environment for enabling and facilitating researchers. Methods: This study is based on the findings of a pilot project initiated for developing research culture at Heavy Industries Taxila Education City Institute of Medical Sciences (HITEC IMS). A multidisciplinary team was assembled consisting of focal persons from all departments for collaboration with research cell. This team was trained and given goals for leading research projects in their departments. At the end of first quarter, the idea of this program was projected in form of a model for developing and evaluating research culture. Results A model was derived on the basis of experience and refined by the use of theories of change process, that was helpful in identifying input and process elements of the program. This was named as HITECh (Heading towards Innovation and Translating Evidence into Care of health) research model. Outcomes of the program were encouraging in terms of an increase in motivation, research thinking and number of research projects running in the college. The program was perceived by faculty as a great initiative and the whole research team supported it. Conclusion: The program was helpful in strengthening research culture at HITEC IMS, and a model developed during the process of formative evaluation can help in guiding other institutes for planning, implementing and evaluating similar programs.

Objective: The study aims to ascertain the degree of felt stress among parents of cerebral palsy patients at HIT and POF Hospitals. Study Design: Cross-sectional. Setting: Department of Pediatrics, HIT & POF Hospitals. Period: February 2022 to May 2022. Material & Methods: The study was approved by IRB of HITEC-IMS under approval number HITEC-IRB-22-2021. Using the purposive sampling method, the study included CP children aged 3 to 10 and caregivers who had experienced stress for three consecutive months. The total score was determined using Sheldon Cohen's perceived stress scale. Scores between 0 and 13 were classified as low perceived stress, 14 to 26 as moderate, and 27 to 40 as high felt stress. Results: Children with the spastic form of CP made up 50% of the population, while those with the dyskinetic ataxic and mix types made up 16%, 8%, and 5% of the total. 66 percent of the children were under 5, 22 percent were between the ages of 6 and 10, and just 12 percent were under 3. With level 4 on the second, the GMFCS level of 3 was the most prevalent. The parents’ average age was 31±7.2. Respondents' average stress score was 18.03±8.8. Conclusion: Parents of CP children experience moderate to high levels of stress that are significantly influenced by the employment status of moms and family income. Parents must be stress-free in order to raise children with poor health.