Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
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Kleefstra syndrome (KS), previously referred to as 9q subtelomeric deletion syndrome (9qSTDS), is characterised by moderate to severe developmental delay/mental retardation, childhood hypotonia, and brachy-microcephaly (main clinical phenotype), midface hypoplasia, prognathism, lip and eyebrow shape anomalies. The true prevalence of KS is unknown, but it is estimated that it occurs with a frequency of 1/200.000 in cases with mental retardation. On literature search, approximately 110 patients have been reported so far. Genetic analysis should be planned and interdisciplinary monitoring should be provided in cases suspected to have KS. Key Words: Child, Genetic disorder, Kleefstra Syndrome, Dysmorphism.
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J Coll Physicians Surg Pak · Apr 2022
Case ReportsSevere Asymptomatic Hyponatremia in an Elderly Man.
Hyponatremia is regarded as the most common electrolyte imbalance among hospitalised patients. Most hyponatremic conditions present with various degrees of symptoms depending on the level of sodium. Herein, we present a case of hyponatremia in a 65-year male, which was being managed as a case of diabetic nephropathy. ⋯ The simultaneous level of potassium was 2.6 mmol/L and 2.7 mmol/L, respectively. From this case, it is important to note that the level of hyponatremia does not necessarily have a direct relationship with the severity of symptoms of hyponatremia. Key Words: Hyponatremia, Electrolytes, Diabetic nephropathy.
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J Coll Physicians Surg Pak · Apr 2022
Case ReportsInitial Experience in Ablation of Non-coronary Cusp PVCs by using High-density Mapping System (Rhythmia).
Idiopathic premature ventricular contractions (PVCs) most often occur under or above the semi-lunar valves from the right ventricular outflow tract and less often from the left ventricular outflow tract. Radio-frequency ablation is mostly used for patients who develop left ventricular dysfunction or intolerable symptoms. ⋯ We report a case of a young man with PVCs coming from a rare site of non-coronary cusp, which was ablated successfully by using a high-density mapping system. Key Words: Catheter ablation, Left ventricular outflow tract, Non-coronary aortic cusp, Premature ventricular contractions.
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J Coll Physicians Surg Pak · Apr 2022
Case ReportsCutaneous Metastasis from Transitional Cell Carcinoma of Urinary Bladder.
Cutaneous metastases with a prevalence of 5.3% in all malignancies are rarely observed phenomena in dermatology. Bladder cancers constitute 0.84% of cutaneous metastases; and 90% of these are transitional cell carcinomas (TCCs), the commonest bladder malignancy. ⋯ We would like to call attention to these rarely observed skin lesions to prevent delayed diagnosis; and emphasise the use of immunohistochemical staining for the determination of the primary origin of the tumour. Key Words: Cutaneous metastasis, Bladder, Urothelial carcinoma.
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Uterine adenosarcoma is a rare tumor composed of benign epithelium in combination with malignant mesenchymal components. Misdiagnosis is common due to the lack of specific clinical manifestations and the rarity of such tumors in young age groups. The mean age at diagnosis is 58.6 years, and <10% of patients are younger than 40 years. ⋯ Histopathologic examination finally confirmed uterine adenosarcoma. The patient had no evidence of residual tumor or recurrence during six months of follow-up. Key Words: Uterus, Adenosarcoma, Mixed tumor.