{"title":"Salbutamol in the management of congenital myasthenic syndrome (CMS) and associated IgA and IgG Deficiency.","authors":"Abia Abdullah, Sana Ashraf, Prem Chand","doi":"10.47391/JPMA.21352","DOIUrl":"https://doi.org/10.47391/JPMA.21352","url":null,"abstract":"<p><p>A 13-month-old girl, diagnosed with congenital myasthenic syndrome due to CHRNE and GMPPB mutation, presented with involuntary movement of muscles and ptosis along with lethargy, having a poor response to Pyridostigmine and improved symptoms with Salbutamol. This case report highlights the significance of genetic testing and the clinical response to Salbutamol, emphasising its potential role in the continued treatment of CMS and providing a more economical and feasible therapeutic approach.</p>","PeriodicalId":54369,"journal":{"name":"Journal of the Pakistan Medical Association","volume":"75 7","pages":"1158-1161"},"PeriodicalIF":0.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144769292","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Naveed Ahmed Mahar, Nazish Mughal, Raheem Mahar, Mazhar Ali Channa, Manzoor Hussain
{"title":"Colorenal fistulae: A rare but fatal presentation of renal tuberculosis in a paediatric patient.","authors":"Naveed Ahmed Mahar, Nazish Mughal, Raheem Mahar, Mazhar Ali Channa, Manzoor Hussain","doi":"10.47391/JPMA.20719","DOIUrl":"https://doi.org/10.47391/JPMA.20719","url":null,"abstract":"<p><p>Genitourinary Tuberculosis (GUTB) primarily occurs due to haematogenous infection and represents the most prevalent form of extra-pulmonary tuberculosis. It typically presents with non-specific symptoms and is rare in children, making diagnosis challenging and, potentially, leading to complications such as renal failure, pyonephrosis, nephrocutaneous fistulae, and sepsis. We describe a unique case involving a four-year-old male child who developed renal tuberculosis secondary to a renal stone, resulting in pyonephrosis and colorenal fistulae.</p>","PeriodicalId":54369,"journal":{"name":"Journal of the Pakistan Medical Association","volume":"75 7","pages":"1135-1137"},"PeriodicalIF":0.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144769318","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Opioid epidemic: Why replacement therapy is part of the answer?","authors":"Asma Suleman, Anees Fatima, Ali Madeeh Hashmi","doi":"10.47391/JPMA.20782","DOIUrl":"https://doi.org/10.47391/JPMA.20782","url":null,"abstract":"","PeriodicalId":54369,"journal":{"name":"Journal of the Pakistan Medical Association","volume":"75 7","pages":"1116-1117"},"PeriodicalIF":0.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144769283","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Relationship of glycaemic control with endurance and fall risk in diabetics with and without cardiovascular diseases.","authors":"Saira Jahan, Sunbal Fatima, Amna Mumtaz, Aiman Alam, Nimra Kanwal Bhatti, Aruba Saeed","doi":"10.47391/JPMA.20005","DOIUrl":"https://doi.org/10.47391/JPMA.20005","url":null,"abstract":"<p><strong>Objectives: </strong>To determine the relationship of blood glucose random and glycosylated haemoglobin with cardiopulmonary endurance and risk of fall in diabetic patients with and without cardiovascular disease.</p><p><strong>Methods: </strong>The correlational study was conducted at the Riphah College of Rehabilitation and Allied Health Sciences, Riphah International University (RIU), Islamabad, Pakistan, from September 2022 to August 2023. The sample was raised from The Diabetic Centre, Islamabad, and the Pakistan Ordinance Factories, Wah Cantonment, and comprised diabetic patients of either gender aged 45-65 years who were divided into group 1 with cardiovascular diseases and group 2 without cardiovascular diseases. To assess glycaemic control, blood glucose random and glycosylated haemoglobin levels were checked. The Berg balance scale was used for balance assessment, and the 6 minutes' walk test was used for cardiopulmonary endurance. Data was analysed using SPSS 23.</p><p><strong>Results: </strong>Of the 204 patients with mean age 53.56±6.39 years, 102(50%) were I group 1; 72(70.6%) females and 30(29.4%) males with mean age 54.50±6.42 years. The remaining 102(50%) patients were in group 2; 61(59.8%) females and 41(40.2%) males with mean age 52.63±6.25 years. There were statistically significant results in both groups regarding glycosylated haemoglobin, blood glucose random, risk of fall and cardiopulmonary endurance (p<0.05), but correlational analysis in each group showed negligible correlation with (p >0.05).</p><p><strong>Conclusions: </strong>Increased blood glucose level was associated with increased risk of fall and reduced cardiopulmonary endurance.</p>","PeriodicalId":54369,"journal":{"name":"Journal of the Pakistan Medical Association","volume":"75 7","pages":"1091-1094"},"PeriodicalIF":0.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144769289","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sahar Imran Khalfay, Muhammad Roshan, Muhammad Ahmad Nadeem
{"title":"Targeting HbA1c: A strategy for cardiovascular disease prevention.","authors":"Sahar Imran Khalfay, Muhammad Roshan, Muhammad Ahmad Nadeem","doi":"/10.47391/JPMA.22148","DOIUrl":"https://doi.org//10.47391/JPMA.22148","url":null,"abstract":"","PeriodicalId":54369,"journal":{"name":"Journal of the Pakistan Medical Association","volume":"75 7","pages":"1168"},"PeriodicalIF":0.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144769293","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Children at risk: The overlooked threat of Monkeypox in Pakistan.","authors":"Ayesha Jameel, Zaid Abdul Samad","doi":"10.47391/JPMA.22073","DOIUrl":"https://doi.org/10.47391/JPMA.22073","url":null,"abstract":"","PeriodicalId":54369,"journal":{"name":"Journal of the Pakistan Medical Association","volume":"75 7","pages":"1167"},"PeriodicalIF":0.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144769316","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Long-term Use of Proton Pump Inhibitors (PPIs) and Their Effects on Bone Health.","authors":"Ayesha Ahmad, Malik Saif Ul Haq Jami, Asad Khan","doi":"10.47391/JPMA.22742","DOIUrl":"https://doi.org/10.47391/JPMA.22742","url":null,"abstract":"","PeriodicalId":54369,"journal":{"name":"Journal of the Pakistan Medical Association","volume":"75 7","pages":"1178"},"PeriodicalIF":0.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144769333","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Bardet-Biedl syndrome: a multisystem disorder with rare dermatological manifestations.","authors":"Ghafoor Ullah, Sidra Shabbir, Hanniya Marwat, Fahad Faizullah, Maisan Qadir, Maryam Sardar","doi":"10.47391/JPMA.20061","DOIUrl":"10.47391/JPMA.20061","url":null,"abstract":"<p><p>Bardet-Biedl syndrome (BBS) is a disorder of primary ciliary dysfunction, having a wide range of systemic and dermatological manifestations. We report the case of a nine-year-old patient having multiple erythematous plaques over the dorsal surface of both feet, scalp seborrhoea,, keratosis pilaris, and polydactyly, associated with night blindness and central obesity. Initial workup correlated well with BBS reporting metabolic syndrome, retinal dystrophy, and gonadal dysfunction. Genetic testing for disease confirmation was not done due to the limited hospital resources. Multidisciplinary symptomatic management was carried out for the patient, along with counselling of the parents regarding possible complications of the disease. This case was reported at the Dermatology Department of Medical Teaching Institute-Hayatabad Medical Complex, Peshawar.</p>","PeriodicalId":54369,"journal":{"name":"Journal of the Pakistan Medical Association","volume":"75 6","pages":"970-973"},"PeriodicalIF":0.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144692414","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Arham Amir Khawaja, Arif Javaid, Haseeb Mehmood Qadri, Nuzhat Faqir Hussain, Pashmal Yousaf
{"title":"Complicated oesophageal duplication cyst in a 55-year-old man: a rare case from Pakistan.","authors":"Arham Amir Khawaja, Arif Javaid, Haseeb Mehmood Qadri, Nuzhat Faqir Hussain, Pashmal Yousaf","doi":"10.47391/JPMA.20017","DOIUrl":"https://doi.org/10.47391/JPMA.20017","url":null,"abstract":"<p><p>Duplication cysts are congenital anomalies that arise during early embryonic development. They occur in the small intestine, oesophagus, stomach, and colon. Oesophageal duplication cyst (ODC) is rare among newborns, but even rarer in adults. We report the case of a 55-year-old male with the presenting complaints of haematemesis, dysphagia, and significant weight loss for the past eight months. Clinical examination was unremarkable, except that the patient had pallor. Computed tomography scan confirmed the presence of ODC. Subtotal oesophagectomy with gastric pull-up and sub-aortic oesophagogastrostomy was completed. Histopathology was consistent with foregut duplication cyst. Post-operative period was complicated by left basal atelectasis, and the patient was discharged without long-term sequelae. Adult ODC can be regarded as a diagnosis of exclusion after ruling out oesophageal malignancy, high-grade oesophageal varices, mediastinal masses, and submucosal lesions. Complete surgical excision with restoration of gut continuity is optimal management in complicated, large (>5cm) ODC.</p>","PeriodicalId":54369,"journal":{"name":"Journal of the Pakistan Medical Association","volume":"75 6","pages":"965-969"},"PeriodicalIF":0.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144692420","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Muhammad Salman, Aisha Jadoon, Salva Nadeem, Syed Abdullah Bin Faisal
{"title":"Navigating listeriosis: a case report highlighting swift diagnosis and management in a high-risk patient.","authors":"Muhammad Salman, Aisha Jadoon, Salva Nadeem, Syed Abdullah Bin Faisal","doi":"/10.47391/JPMA.20366","DOIUrl":"https://doi.org//10.47391/JPMA.20366","url":null,"abstract":"<p><p>Listeriosis is a serious foodborne bacterial infection with potentially severe consequences, particularly for pregnant women. A 38-year-old primigravida presented with fever and malaise during her third trimester of pregnancy and a diagnosis of listeriosis was confirmed through blood culture. An emergency caesarean section was performed, and a healthy baby was delivered. The patient had consumed a significant number of dairy products before the onset of fever, highlighting the importance of dietary history. This case report emphasises the need for healthcare providers to maintain a high index of suspicion, especially in high-risk patients. This also shows that swift diagnosis and empirically targeted management are essential in combatting listeriosis in pregnancy, and lead to better maternal and foetal outcomes. It also underscores the necessity of raising awareness among pregnant women about safe dietary practices to reduce the risk of listeria infection.</p>","PeriodicalId":54369,"journal":{"name":"Journal of the Pakistan Medical Association","volume":"75 6","pages":"1026-1028"},"PeriodicalIF":0.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144692438","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}