{"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}
{"title":"Impact of CYP3A4 single nucleotide polymorphism to lidocaine therapy in Pakistani population.","authors":"Ayesha Afzal, Uzma Naeem, Abeera Sikandard, Saima Rafique, Akbar Waheed Syed","doi":"10.47391/JPMA.20095","DOIUrl":"10.47391/JPMA.20095","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the role of the Cytochrome P450 3A4*22 mutation on the postoperative analgesic effects of lidocaine.</p><p><strong>Methods: </strong>The study was conducted at the Pakistan Ordinance Factories Hospital, Wah Cantt, Pakistan, from March 2021 to December 2022, and comprised adult patients undergoing elective laparoscopic cholecystectomy. The patients were randomised into intervention group A and control group B. Patients in group A were given a bolus dose of lidocaine 2mg/kg in addition to the standard anaesthesia protocol, while the patients in group B received the standard anaesthesia protocol. Visual analog scale was used at 6 hours and 12 hours post-surgery. Blood samples for genetic analysis were taken after the start of surgery. Data was analysed using SPSS 26.</p><p><strong>Results: </strong>Of the 300 patients, 215(71.7%) were females and 85(28.3%) were males. The overall mean age was 48.49±11.34 years and mean body mass index was 23.40±7.0546kg/m2. However, owing to unsuccessful genotyping, 42(14%) patients could not be evaluated. Patients with a GA allele sequence with GG in the Cytochrome P450 3A4*22 (rs35599367) had a higher postoperative pain threshold than those with GG and AA alleles alone (p<0.01).</p><p><strong>Conclusions: </strong>Patients with a GA allele succession with GG in the Cytochrome P450 3A4*22 (rs35599367) had a higher postoperative aggravation edge than those with GG and AA alleles alone.</p><p><strong>Rct no: </strong>IRCT-20220830059302N1.</p>","PeriodicalId":54369,"journal":{"name":"Journal of the Pakistan Medical Association","volume":"75 6","pages":"870-876"},"PeriodicalIF":0.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144692434","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}
Usman Ismat Butt, Mohammad Hasan Asif, Usama Ahmed Ali, Aymn Mazhar, Abrar Ashraf Ali
{"title":"Unusual delayed presentation of vesicocutaneous fistula as Meleney's gangrene.","authors":"Usman Ismat Butt, Mohammad Hasan Asif, Usama Ahmed Ali, Aymn Mazhar, Abrar Ashraf Ali","doi":"10.47391/JPMA.20558","DOIUrl":"10.47391/JPMA.20558","url":null,"abstract":"<p><p>Vesicocutaneous fistula (VCF) is a rare condition. It may be the result of trauma, radiation, surgery, malignancy or infection. Delayed VCF formation has been reported rarely in literature. We report an unusual presentation of a vesicocutaneous fistula which presented as an abdominal wall infection secondary to infection of obstructed urinary tract in an old case of bladder trauma and repair.</p>","PeriodicalId":54369,"journal":{"name":"Journal of the Pakistan Medical Association","volume":"75 6","pages":"978-980"},"PeriodicalIF":0.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144692460","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":"The 5C model: Clinical approach to peripheral neuropathy.","authors":"Sanjay Kalra, Atul Dhingra, Suneet Kumar Verma, Nitin Kapoor","doi":"10.47391/JPMA.25-45","DOIUrl":"10.47391/JPMA.25-45","url":null,"abstract":"<p><p>Peripheral neuropathy is a common condition which is often missed in primary care. The 5C model simplifies the clinical approach to peripheral neuropathy, listing steps of history taking, physical examination and investigations. One begins by eliciting complaints and concerns, and \"classifying by the calendar\". Comorbid and contributory diseases, concomitant medications and contacted toxins, are then identified. The complications of neuropathy, and the corrective measures undertaken so far, are explored. This is followed by a physical examination, and supplemented by investigations. Once the diagnosis is confirmed, comprehensive management, guided by the LEMON mnemonic, which lists the various facets of neuropathy care, has to be planned.</p>","PeriodicalId":54369,"journal":{"name":"Journal of the Pakistan Medical Association","volume":"75 6","pages":"1000-1001"},"PeriodicalIF":0.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144692452","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":"Finerenone: A breakthrough drug for patients of HFmrEF and HFpEF.","authors":"Ahmed Faizan","doi":"10.47391/JPMA.22199","DOIUrl":"https://doi.org/10.47391/JPMA.22199","url":null,"abstract":"","PeriodicalId":54369,"journal":{"name":"Journal of the Pakistan Medical Association","volume":"75 6","pages":"1044"},"PeriodicalIF":0.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144692428","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":"Heat stroke and cardiovascular disease drugs.","authors":"Hamza Ehtesham, Marium Omair Mirz, Mushtaq Ahmad","doi":"10.47391/JPMA.22451","DOIUrl":"https://doi.org/10.47391/JPMA.22451","url":null,"abstract":"","PeriodicalId":54369,"journal":{"name":"Journal of the Pakistan Medical Association","volume":"75 6","pages":"1045-1046"},"PeriodicalIF":0.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144692432","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 Anas Faheem, Syeda Kashaf Batool, Syed Tawassul Hassan
{"title":"Heatwave associated mortality in Karachi, Pakistan: a public health emergency.","authors":"Muhammad Anas Faheem, Syeda Kashaf Batool, Syed Tawassul Hassan","doi":"10.47391/JPMA.21662","DOIUrl":"https://doi.org/10.47391/JPMA.21662","url":null,"abstract":"","PeriodicalId":54369,"journal":{"name":"Journal of the Pakistan Medical Association","volume":"75 6","pages":"1034-1035"},"PeriodicalIF":0.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144692433","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}
Asharib Sohaib, Muhammad Hassan, Muhammad Hussain, Abdul Hannan
{"title":"Socioeconomic and geographical disparities in healthcare quality in Pakistan.","authors":"Asharib Sohaib, Muhammad Hassan, Muhammad Hussain, Abdul Hannan","doi":"10.47391/JPMA.21573","DOIUrl":"https://doi.org/10.47391/JPMA.21573","url":null,"abstract":"","PeriodicalId":54369,"journal":{"name":"Journal of the Pakistan Medical Association","volume":"75 6","pages":"1031"},"PeriodicalIF":0.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144692447","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}