Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
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J Coll Physicians Surg Pak · Dec 2022
Case ReportsPompe Disease Complicated with Appendicular Torsion: A Rare Concurrence.
Pompe disease, also known as Glycogen Storage Disease Type II, is a rare disorder of glucose metabolism caused by congenital acid alpha-glucosidase (GAA) deficiency. A large amount of glycogen accumulates in the lysosomes, causing these to swell and rupture. Its incidence is about 1 in 40,000 to 1 in 50,000 newborns. ⋯ Once the clinical symptoms worsen, most of them die within a short period. Therefore, screening for neonatal genetic metabolic diseases for early diagnosis and treatment should be carried out. Key Words: Glycogen storage disease type II, Metabolic disease, Enzyme replacement therapy, Neonatal screening.
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J Coll Physicians Surg Pak · Dec 2022
Case ReportsLaparoscopic Cholecystectomy after Acute Biliary Pancreatitis in a Patient with Situs Inversus Totalis.
Situs inversus totalis (SIT) is a rare disorder defined as symmetrical transposition of thoracic and abdominal organs. Laparoscopic cholecystectomy (LC) is a routine surgical operation and gold standard for symptomatic gallstones. LC can be challenging in SIT due to patient positioning on the operating table and the surgeon's operating position, especially for right-handed surgeons. ⋯ During the operation, trocar sites were mirror images of routine LC and the operation was completed without complications. Diagnosis of acute abdominal pain and abdominal surgery in SIT patients can be demanding. Various transformations in standard LC are possible and SIT is not a contraindication for LC Key Words: Laparoscopy, Cholecystectomy, Situs inversus totalis, Pancreatitis, Gallbladder.
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J Coll Physicians Surg Pak · Dec 2022
Observational StudyPredicting the Severity of Coronary Artery Disease: Can the Leukocyte Glucose Index be Used?
To investigate the usability of leuko-glycemic index (LGI) at chronic coronary syndromes (CCS) class 1 for determining the extent and severity of coronary artery disease (CAD). ⋯ Coronary artery disease, Leukocyte glucose index, Myocardial perfusion scintigraphy.
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J Coll Physicians Surg Pak · Dec 2022
Case ReportsPrenatal Identification and Confirmation of Jacobsen Syndrome: A Series of Four Cases.
Jacobsen syndrome (JBS) is a rare contiguous gene disorder caused by partial deletion of the distal part of the long arm of chromosome 11. Only a few prenatal cases of JBS have been reported, and data on prenatal ultrasonographic findings are relatively scarce. We analysed four cases of JBS diagnosed prenatally in our centre. ⋯ In addition, cardiac defects, trigonocephaly and shortened femur are also found. Our presentation of these cases provides more ultrasonic information for the prenatal diagnosis of this rare disease. Key Words: Ultrasound, Prenatal diagnosis, Jacobsen syndrome, Chromosomal abnormalities, Fetal malformation.
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J Coll Physicians Surg Pak · Dec 2022
Case ReportsMicrosporidial Keratitis - First Case Series of a Rare Pathogen in the Wake of Flood Disasters of 2022 in Pakistan.
The recent monsoon rains in Pakistan were unprecedented and caused flooding all over Pakistan, especially in Sindh and Balochistan. Following this national disaster, various water-borne and contagious diseases started erupting all over the country. In such a calamity-struck city of Jacobabad, we started receiving cases with a peculiar set of ocular complaints mimicking viral keratoconjunctivitis. ⋯ In this case series, we highlight the strong correlation of emergence of microsporidial keratitis in patients following exposure to pooled water bodies after the monsoon rainy season and floods. Moreover, this report will help create awareness in eye professionals regarding the prevention, timely diagnosis and treatment of these rare and emerging cases. Key Words: Keratitis, Spores, Water-borne diseases, Microsporidia.