Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
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J Coll Physicians Surg Pak · Jun 2022
Case ReportsPosterior Fascicular Ventricular Tachycardia: A Rare Cause of Tachycardia.
A 13-year male patient with a history of tachycardia attacks was diagnosed to have left posterior fascicular ventricular tachycardia (VT) according to the electrocardiogram (ECG) obtained at the emergency service. This diagnosis was confirmed with advanced electrophysiological studies and the case was diagnosed by genetic evaluation, which was performed to reveal the underlying cause, to have Brugada type 2 syndrome that might be associated with sudden cardiac death. Underlying causes should be evaluated, although idiopathic VTs generally have a good prognosis. Key Words: Brugada syndrome, Posterior fascicular ventricular tachycardia, Right bundle branch block.
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This study aimed to determine the clinical spectrum and biochemical findings on urine organic acids (UOA) in Biotin-responsive multiple carboxylase deficiency (MCD) patients presenting to the biochemical genetics laboratory (BGL). Patients reported as MCD, from January 2013-December 2020 were included. The UOA was analysed by gas chromatography mass spectrometer. ⋯ The common peaks were determined on UOA 3OHIVA, MC and MCC. MCD is not rare in Pakistani population; it is recommended to include this disorder in newborn screening programs. Key Words: Biotin responsive multiple carboxylase deficiency, Organic acids, Amino acids, Pakistan, Inborn errors of metabolism.
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J Coll Physicians Surg Pak · Jun 2022
Case ReportsTreatment of Severe Destructive Foot and Ankle Injury in a Young Child with a Skin Regeneration Technique.
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J Coll Physicians Surg Pak · Jun 2022
Systemic Immune Inflammation Index as a Reliable Disease Activity Marker in Psoriatic Arthritis.
To assess the utility of systemic immune inflammation index (SII) in predicting disease activity in psoriatic arthritis (PsA) patients. ⋯ Blood cell count, Psoriatic arthritis, Systematic immune inflammation index (SII).