Background: House Officers report significant levels of work-related stress that demands to be immediately addressed as it adversely affects their ability to function their best as doctors. This study aimed to assess the risk factors of psychological distress among the currently working house officers (2016-2017). Objectives: To assess the various risk factors of work-related stress amongst the house officers working in tertiary care hospitals, Karachi Methods: A cross sectional study was carried out in Civil Hospital, Jinnah Postgraduate Medical Centre and Abbasi Shaheed Hospital, Karachi during October 2016 and March 2017. A total of 384 house officers were approached for the study as per the sample size calculated using the Open-epi software. The questionnaire comprised of demographic data, 10-items perceived stress scale, and 12-items list of potential stressors. The severity of each stressor was measured using a five-point Likert scale (1-5) ranging from always (1) to never (5). Results: A total of 384 house officers were approached out of whom 315 (82%) participated. Among them, 115 (36.50%) were found to be under stress of whom 24 (20.8%) were males and 91(79.2%) were females. Significant difference for stressors by gender was found, these included their job having an effect on their health, change in eating habits and lack of paramedical staff cooperation (P < 0.05). Factors like increased hesitancy to take on tasks and increased tendency to make errors were found to have an impact on clinical performance (P value <0.05). Conclusion: There is high level of perceived stress in house officers of tertiary care hospitals, Karachi. Therefore, adequate steps are needed for stress management which should be dealt in terms of preventive rather than curative strategy.

Background: Bruck syndrome or BRKS1 is an extremely rare condition characterized by the onset of fractures in infancy, joint contractures, short stature, severe limb deformity, and progressive scoliosis. Less than fifty cases of BRKS1 have been reported so far. Here, we report Bruck syndrome 1 in two siblings who belong to a consanguineous Pashtun family living in Karachi. Our first case is a seven years old boy who presented with recurrent fractures, lower limb deformity, and unable to walk. He had markedly reduced bone mineral density (BMD) and a normal bone profile. The other sibling presented at one week of age with arthrogryposis multiplex congenita, post-axial polydactyly of both feet, and spontaneous fracture of the right proximal femur. Genetic testing of our cases was performed in which genomic DNA was enriched for targeted regions using the hybridization-based protocol, and DNA sequencing was done using Illumina technology; both cases were found homozygous for pathogenic variant c.344G>A (p.Arg115Gln) in FKBP10 gene leading to the diagnosis of BRKS1. FKBP10 gene mutation has been reported earlier in association with BRKS1, but in our case report, we have reported the first case of BRKS1, particularly in the Pakistani population of Pashtun ethnicity. We have reported post-axial polydactyly of both feet and spina bifida for the first time in association with FKBP10 mutation. In addition, the skeletal survey of patients with BRKS 1 is elaborated in detail in this report.

INTRODUCTION: Glutaric aciduria type 1 is a neurometabolic disorder occurring due to deficient activity of glutaryl-CoA dehydrogenase. Multiple neurotoxic metabolites start accumulating in plasma, CSF and urine which are detected by mass spectrometry. Early new-born screening plays an important role in early diagnosis whereas typical radiographic features and metabolic workup supports the diagnosis. Treatment guidelines have been constructed to prevent acute encephalopathic crisis and remove neurotoxic metabolites from plasma to prevent brain damage, the goal of treatment. CASE PRESENTATION:  An eight month old male patient presented with fever, seizures and altered level of consciousness. He was macrocephalic with examination findings suggestive of upper motor neuron lesion. The typical radiologic features suggestive of glutaric aciduria type 1 were noticed in neuroimaging. Workup for inborn error of metabolism confirmed the same. Early treatment was started keeping a metabolic disease consultant on board. The patient was safely discharged from hospital after stabilization and is well till date. CONCLUSION: This case is being reported to emphasize the importance of early diagnosis, timely management and adherence to proper treatment in paediatric patients presenting with metabolic crisis. This can help prevent irreversible damage in patients especially in the ones diagnosed as glutaric aciduria type 1.

Common variable immune deficiency (CVID) is the most common of all primary immunodeficiency rare diseases characterized by hypogammaglobulinemia. This is caused by the defective functioning of B-cells and T-cells, resulting in recurrent infections. Its etiology is unknown but most commonly initiated due to epigenetic factors and epistatic interactions. Moreover, it has a bimodal age distribution and can be more evident from infancy to after 4th decade of life.Herein, a seven-year-old female, the first product of consanguineous marriage with no family history of immunodeficiency disorders, presented predominantly with sinopulmonary involvement. It manifested as severe pulmonary pneumonia, atelectasis, patchy alveolar infiltrates, and lung nodules. She also had a history of diarrhea and otitis media. Despite having a history of recurrent infections since three years of age, she was diagnosed late due to a lack of awareness and knowledge about the presentation of CVID and its different manifestations among the medical community in Pakistan. The diagnosis of CVID is based on the clinical and immunological manifestation of the patient with respect to the European Society of Immune Deficiencies (ESID) diagnostic criteria. Therefore, genetics help detect mutations leading to CVID and establish a genetic diagnosis for CVID-like disorders. However, genetic panel testing is not used as a diagnostic tool in Pakistan due to the unavailability of resources. Instead, the clinical presentation, abnormal lymphocytic counts, and immunoglobulin levels may help diagnose CVID.Early diagnosis will help in the timely utilization of the most effective treatment and management options available. These include intravenous immunoglobulin (IVIG) and hematopoietic stem cell therapy. Ig replacement therapy has shown a beneficial role in halting the cycle of recurrent infections and improving the prognosis of CVID. However, it's a bit expensive therapy. Moreover, the role of hematopoietic stem cell therapy in treating CVID has been documented, but it's not so common and practical.

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