Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
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J Coll Physicians Surg Pak · Dec 2021
Case ReportsSpinal Muscular Atrophy with Respiratory Distress
Type 1: A Novel Variant of IGHMBP2 Gene.Spinal muscular atrophy (SMA) with respiratory distress type 1 (SMARD1) is an exceptionally rare type of SMA. It results from disintegration of alpha motor neurons of the spinal cord. Clinically, children affected with this disorder present between the age of six weeks to six months with respiratory distress and hypotonia. ⋯ Despite supportive treatment, she died at the age of 5 months in hospital. To the best of our knowledge, the variant has not been described in the literature so far. Key Words: Spinal muscular atrophy with respiratory distress type-1 (SMARD1), Hypotonia, respiratory distress, infants.
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J Coll Physicians Surg Pak · Dec 2021
A Comparison of Lower Limb Peripherally Inserted Central Catheter and Deep Venous Catheterisation.
To compare the clinical application effects of peripherally inserted central catheter (PICC) and deep venous catheters placed through the lower limbs in adults with malignancy obviating the use of upper limb PICC. ⋯ The indications for PICC through the lower limbs in adults include patients with advanced malignant tumor after bilateral breast cancer lymphadenectomy or superior vena cava obstruction syndrome, and mainly bedridden patients. This technique has certain advantages over deep venous catheterisation and is an effective choice for venous access. Key Words: Lower limb PICC, Deep venous catheterisation, Advanced malignant tumor, Bedridden.
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J Coll Physicians Surg Pak · Dec 2021
Does Prognostic Nutritional Index Predict Survival in Operated Papilla Vateri Tumors? A Single-centre Experience.
To determine the PNI's prognostic effect of prognostic nutritional index (PNI) on operated papilla vateri tumor (PVT) survival. ⋯ In patients with papilla vater tumors, undergoing curative surgery, PNI can play a role as an independent marker in predicting prognosis. Key Words: Prognostic nutritional index, Papilla vater tumor, Prognosis, Survival.
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J Coll Physicians Surg Pak · Dec 2021
Diffusion-weighted MRI at 3T in Endometrial Cancer: Correlation of Apparent Diffusion Coefficient with Histopathological Prognostic Parameters.
To evaluate the value of apparent diffusion coefficient (ADC) for the differentiation of histological subtypes in endometrial cancer, and to assess if ADC values correlate with histopathological parameters. ⋯ ADC measurements were useful for differentiating endometrioid and non-endometrioid carcinomas. High-grade endometrioid carcinomas had significantly lower ADC values compared to low-grade ones. Key Words: Endometrial cancer, Diffusion-weighted MRI, Apparent diffusion coefficient, Prognostic factors, Histological grade.
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To describe the spectrum of small intestine gastrointestinal stromal tumour (GIST) cases; and to analyse prognostic factors. ⋯ The OS ratio and OS duration were not as high as expected for small intestine GIST cases. Tumour diameter, mitotic index, and risk classification may not provide sufficient information for prognosis prediction in some cases. The frequency of recurrence and/or metastasis was higher than expected - although complete resection was achieved. Key Words: Gastrointestinal stromal tumours, Small intestine, Tumour diameter, Mitotic index.