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Objective: To evaluate the effect of tracheostomy on COVID positive patients and the risk included in the procedure for the patient and health care workers. Study Design: Retrospective Observational Study. Setting: Shifa International Hospital Islamabad, Pakistan. Period: 30th May 2020 to 15th February 2022. Material & Methods: The tracheostomies were performed in COVID ICU at bed side by ENT team. This is a study of 22 patients mostly with multiple comorbidities who presented to the hospital with symptoms of SARS-COVID-19. The changes in their ventilation were recorded before and after the tracheostomy. The health care workers included in the study were also kept under observation for any possible cross infection. Results: Eight out of twenty two patients were weaned off from ventilator. There was decrease in partial pressure of oxygen after the procedure but the mortality rate was high. None of the members of operating team, ICU team, anaesthesia team was infected with the virus. Conclusion: Our study shows that although tracheostomy helps in weaning off from ventilator, it has no role in weaning off COVID patients. There is no benefit of tracheostomy for a COVID positive patients. Furthermore, if adequate personal protective equipment's are used, there is no risk of spread of infection from patient during the procedure of tracheostomy. [ABSTRACT FROM AUTHOR]

Objective: To determine the frequency of hypokalemia among COVID-19 patients and assess its impact on the patients management. Study type, settings & duration: It was a cross-sectional study conducted at Mayo Hospital, Lahore from July 2020 to January 2021. Methodology: A total of 212 SARS-COV-2 positive patients who had developed severe disease were enrolled. Based on the level of potassium, the patients were classified as mild, moderate and severe hypokalemia cases. Data was collected using a structured questionnaire including demography, clinical presentations and medication including use of anticoagulant and steroids. Results: Of the total 210, 46 (21.9%) patients had hypokalemia and among them 23 (11%) showed mild, 17 (8.1%) moderate and 6 (2.9%) severe hypokalemia. Out of 210, 17 (23.9%) patients were treated with hydrocortisone, 11 (17.4%) with methylprednisolone and 18 (23.3%) with dexamethasone and no significant difference was seen in development of hypokalemia (p =0.630). Similarly, 39 (21.4%) patients were given enoxaparin and 7 (24.1%) were given heparin, but no significant association was found between the type of anticoagulant being given and hypokalemia (p =0.754). No significant difference was observed with respect to gender in the development of hypokalemia (p =0.782). Conclusion: This study showed that hypokalemia was a significant clinical manifestation among SARS-COV-2 patients. Further it was noted that treatment regime used for COVID-19 management and gender of the patients are not a risk factor for developing the hypokalemia. [ABSTRACT FROM AUTHOR]

Mucopolysaccharidoses (MPSs) are inherited lysosomal storage disorders (LSDs). MPSs are caused by excessive accumulation of mucopolysaccharides due to missing or deficiency of enzymes required for the degradation of specific macromolecules. MPS I-IV, MPS VI, MPS VII, and MPS IX are sub-types of mucopolysaccharidoses. Among these, MPS III (also known as Sanfilippo) and MPS IV (Morquio) syndromes are lethal and prevalent sub-types. This study aimed to identify causal genetic variants in cases of MPS III and MPSIV and characterize genotype-phenotype relations in Pakistan. We performed clinical, biochemical and genetic analysis using Whole Genome Sequencing (WGS) in 14 Pakistani families affectedwithMPS III orMPS IV. Patientswere classified intoMPSIII by history of aggressive behaviors, dementia, clear cornea and into MPS IV by short trunk, short stature, reversed ratio of upper segment to lower segment with a short upper segment. Data analysis and variant selections weremade based on segregation analysis, examination of known MPS III and MPS IV genes, gene function, gene expression, the pathogenicity of variants based on ACMG guidelines and in silico analysis. In total, 58 individuals from 14 families were included in the present study. Six families were clinically diagnosed withMPS III and eight families with MPS IV. WGS revealed variants in MPS-associated genes including NAGLU, SGSH, GALNS, GNPTG as well as the genes VWA3B, BTD, and GNPTG which have not previously associated with MPS. One family had causal variants in both GALNS and BTD. Accurate and early diagnosis of MPS in children represents a helpful step for designing therapeutic strategies to protect different organs from permanent damage. In addition, pre-natal screening and identification of genetic etiologywill facilitate genetic counselling of the affected families. Identification of novel causal MPS genes might help identifying new targeted therapies to treat LSDs. [ABSTRACT FROM AUTHOR]