Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
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J Coll Physicians Surg Pak · Dec 2022
Case ReportsSimultaneous Living Kidney And Liver Transplantation in a Young Male From Two Living Donors.
Simultaneous kidney and liver transplantation (SKLT) is the surgical treatment modality for combined liver and kidney failure. Although it is a challenging procedure, but has got the added advantage of a single procedure and common immunosuppression therapy. Recently, the practice of deceased donors SKLT has increased dramatically in the West. ⋯ Here, we describe a successful SKLT procedure from two separate living donors in a 31-year male, who presented with end-stage renal disease secondary to hypertensive nephropathy and decompensated chronic liver disease secondary to hepatitis C infection. The patient had a smooth recovery and on 1-year follow-up, he is stable. Key Words: Simultaneous, Liver, Kidney, Transplantation.
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J Coll Physicians Surg Pak · Dec 2022
Use of Bilateral Superficial Cervical Plexus Block for Excision of Thyroglossal Duct Cyst in an ASA III Patient.
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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 ReportsA Rare Case in Urology: Inflammatory Myofibroblastic Tumour.
Inflammatory myofibroblastic tumour (IMT) is a soft tissue malignancy with a mixture of myofibroblastic spindle cells with hyalinised stroma and inflammatory infiltrates. We report a case of a 35-year male patient with a 100×90 mm mass located at the posterior wall of the urinary bladder just adjacent to the prostate and rectum. The mass caused grade 3 hydronephrosis in the left kidney and grade 1 hydronephrosis in the right kidney. ⋯ Morphology and immunohistochemistry were consistent with IMT. With surgical excision of the tumour, no recurrence or metastases were seen up to 3 years postoperatively. Key Words: Inflammatory myofibroblastic tumour, Bladder, Urinary system, Hydronephrosis.
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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.