Journal of the Pakistan Medical Association最新文献

{"title":"Genetic landscape of myelodysplastic syndrome and its prognostic relevance: a study from Pakistan.","authors":"Alia Waheed, Saleem Ahmed Khan, Rafia Mahmood, Hamid Saeed Malik, Humayoon Shafique Satti, Hamid Farid Khan","doi":"10.47391/JPMA.21112","DOIUrl":"https://doi.org/10.47391/JPMA.21112","url":null,"abstract":"<p><strong>Objective: </strong>To determine the genetic landscape of myelodysplastic syndrome patients, and to evaluate the impact of gene mutations on disease prognosis and overall survival.</p><p><strong>Methods: </strong>This descriptive study was conducted from April 2019 to April 2021 at the Department of Haematology, Armed Forces Institute of Pathology, Rawalpindi, Pakistan, and comprised myelodysplastic syndrome patients of either gender. Targetted gene panel sequencing and Sanger sequencing were performed on blood and bone marrow samples. Different variant analysis was performed on sequencing data to identify the frequency of various mutations in genes related to myelodysplastic syndrome. Survival analysis and other tools were employed to analyse the impact of prognostic factors and gene mutations. Data was analysed using SPSS 24 and GraphPad Prism 8.</p><p><strong>Results: </strong>Of the 47 patients, 32(68.1%) were males and 15(31.9%) were females. The overall median age was 66 years (interquartile range: 20 years). Targetted gene panel sequencing was done in 09(19.14%) cases, and Sanger sequencing in 38(80.85%). Mutation was present in 15(32%) cases, while it was absent in 32(68%). The most commonly mutated genes were DDX10 (9%), TET2 (6%), RUNX1(6%), and ASXL1(6%). In general, presence of any gene mutation reflected a poor prognosis (HR=1.54, p=0.24) and shorter median overall survival (median OS=7.5 months, p-trend=0.07) in MDS patients. In individual patients harbouring these mutations, the DDX10 and TET2 mutations suggested a low-risk and favourable prognosis, while RUNX1 mutations had an adverse prognosis, translating into high-risk myelodysplastic syndrome. Whereas, the ASXL1 gene exhibited both low-risk and high-risk MDS disease. In addition, SF3B1 gene mutation in MDS-MLD-RS presented with a favourable outcome. Median overall survival was 11 months (ranging from 3-38 months with an IQR of 11 months), with 36(76.6%) patients succumbing to the disease.</p><p><strong>Conclusions: </strong>Involvement of genetic variants in the initiation, diagnosis and prognosis of myelodysplastic syndrome was noted.</p>","PeriodicalId":54369,"journal":{"name":"Journal of the Pakistan Medical Association","volume":"75 4","pages":"607-620"},"PeriodicalIF":0.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144058347","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":"Systemic and local associated disorders in children with congenital cataracts-a retrospective analysis.","authors":"Rashid Baig, Asma Rahman, Hamzah Jehanzeb, Khadijah Abid","doi":"10.47391/JPMA.21257","DOIUrl":"https://doi.org/10.47391/JPMA.21257","url":null,"abstract":"<p><strong>Objective: </strong>To assess the systemic and local disorders associated with congenital cataracts in children in a tertiary care setting.</p><p><strong>Methods: </strong>The retrospective study was conducted at the Department of Ophthalmology and Visual Sciences, Aga Khan University Hospital, Karachi, and comprised data from January 2014 to December 2019 of patients aged <12 months who underwent lens aspiration. Data on demographics, family history, maternal illness, and associated systemic and local disorders were collected through chart reviews. Unilateral and bilateral cataracts were stratified. Data was analysed using RStudio.</p><p><strong>Results: </strong>Of the 84 cases evaluated, 81(96.4%) were analysed after excluding incomplete records; 41(50.6%) boys and 40 (49.4%) girls. The median age at presentation was 6 months (interquartile range: 4-11 months). Bilateral cataracts were more common (n=50, 61.7%) than unilateral cataracts (n=31, 38.3%). Only 2 (2.5%) cases had a family history of congenital cataracts. Systemic associations included cardiac abnormalities (n=4, 4.9%), central nervous system anomalies (n=3, 3.7%), hearing impairment (n=1, 1.2%), and genitourinary malformations (n=1, 1.2%). Chromosomal anomalies (n=3, 3.7%) and inborn errors of metabolism (n=3, 3.7%) were also noted.</p><p><strong>Conclusions: </strong>The burden of congenital cataracts was significant and its aetiology was multifactorial, emphasising the need for early detection and a multidisciplinary approach to management.</p>","PeriodicalId":54369,"journal":{"name":"Journal of the Pakistan Medical Association","volume":"75 4","pages":"621-626"},"PeriodicalIF":0.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144058376","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":"Case report of a unique phenomenon: leptomeningeal spread in glioblastoma multiforme.","authors":"Kanza Farhan, Yumna Ahmed, Fatima Shaukat","doi":"10.47391/JPMA.20698","DOIUrl":"https://doi.org/10.47391/JPMA.20698","url":null,"abstract":"<p><p>Leptomeningeal spread (LMS) of glioblastoma multiforme (GBM) is a rare event, presenting challenges in both diagnosis and treatment. Here, we describe the case of a 59-year-old GBM patient who experienced LMS during his treatment. Despite multimodal therapy, including surgery, chemotherapy, and radiotherapy, the patient's condition rapidly deteriorated. The case illustrates the difficulty in treating GBM and the restricted ability of available therapies to stop LMS. This manifestation is uncommon, which highlights the need for increased awareness, ongoing study, and development of tailored treatments. Key factors influencing LMS include tumour size, age, and anatomical location. Diagnostic challenges arise due to the rarity of LMS in GBM and its atypical presentation. Therapeutic interventions targeting LMS are lacking, with poor prognosis and low survival rates. To improve patient outcomes, more studies should be done on creating efficient treatment regimens and figuring out the markers associated with LMS development in GBM.</p>","PeriodicalId":54369,"journal":{"name":"Journal of the Pakistan Medical Association","volume":"75 4","pages":"683-686"},"PeriodicalIF":0.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144051911","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":"Artificial intelligence revolutionizing type 2 diabetes mellitus self management (DSM): A digital breakthrough.","authors":"Mohammad Hadif, Kashaf Fatima, Maryam NasrumminAllah","doi":"10.47391/JPMA.20746","DOIUrl":"https://doi.org/10.47391/JPMA.20746","url":null,"abstract":"","PeriodicalId":54369,"journal":{"name":"Journal of the Pakistan Medical Association","volume":"75 4","pages":"690-691"},"PeriodicalIF":0.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144053784","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":"Comparing binaural beats and 432 Hz music for reduction of preoperative anxiety in root canal patients: a randomized controlled trial.","authors":"Hafsa Zaki, Shahbaz Ahmed, Fazal Ur Rehman Qazi, Nayab Fatima, Yumna Shaheen Ali","doi":"10.47391/JPMA.21023","DOIUrl":"https://doi.org/10.47391/JPMA.21023","url":null,"abstract":"<p><strong>Objective: </strong>To compare the effectiveness of binaural beats and 432Hz music in decreasing preoperative dental anxiety among adult patients undergoing root canal procedure.</p><p><strong>Methods: </strong>The double-blind, randomised controlled trial was conducted from October 2023 to March 2024 at the Department of Operative Dentistry and Endodontics, Dr Ishrat-ul-Ebad Khan Institute of Oral Health Sciences, Dow University of Health Sciences, Karachi, and comprised adult patients undergoing root canal procedure who were randomised into three groups. Group A listened to 432Hz music, group B listened to binaural beats, and control group C listened to white noise. All the patients and the outcome assessors were kept blinded to the randomisation. The Visual Analogue Scale for Anxiety was used to measure anxiety levels before and after the administration of local anaesthesia and 10 minutes after listening to the sounds. The endodontic therapy was done as usual. Data was analysed using SPSS 26.</p><p><strong>Results: </strong>Of the 99 participants, 64(64.6%) were females and 35(35.4%) were males with overall mean age 28.06±7.36 years. All the groups had 33(33.3%) subjects. Intragroup improvement in preoperative anxiety was significant in both interventional groups compared to the baseline value and the control group (p<0.05). No significant difference was found between the interventional groups (p>0.05).</p><p><strong>Conclusions: </strong>Binaural beats and 432Hz music were found to be highly and equally effective for decreasing preoperative dental anxiety in adult patients undergoing endodontic treatment.</p><p><strong>Clinical trial registration link: </strong>https://clinicaltrials.gov RCT No. (NCT06349200).</p>","PeriodicalId":54369,"journal":{"name":"Journal of the Pakistan Medical Association","volume":"75 4","pages":"540-544"},"PeriodicalIF":0.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144058623","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":"Effectiveness of remote patient monitoring for wound care: A systematic review.","authors":"Fateema Tanveer, Khadeejah Sajwani, Mohammad Shah Hussain, Maliha Yunus, Um Ul Baneen Zehra","doi":"10.47391/JPMA.11343","DOIUrl":"https://doi.org/10.47391/JPMA.11343","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the role of remote patient monitoring with respect to wound care in terms of improving patient outcomes and facilitating the overall care process.</p><p><strong>Methods: </strong>The systematic review was conducted from July 2 to October 15, 2023, and comprised literature search on PubMed using key words, including \"tele-monitoring\", \"remote patient monitoring\", \"telehealth\", \"telemedicine\", \"wound care\", \"home health monitoring\", and \"selfmonitoring\". To ensure thorough and robust findings, unpublished studies and solitary abstracts were excluded. To include current research and insights from the modern era, only human studies published from year 2008 to 2023 were included.</p><p><strong>Results: </strong>Of the 51 studies identified, 48(94.11%) were reviewed. After excluding 32(66.66%) irrelevant studies, 16(33.33%) were included for analysis, with 15(93.75%) highlighting favourable results of remote patient monitoring and its efficacy in wound care.</p><p><strong>Conclusions: </strong>Tele-monitoring systems have proven effective with respect to wound care, improving healthcare quality and reducing unnecessary hospital visits through online physician-patient communication. Future research should explore strategies for optimising remote patient monitoring to sustain advancements in wound care practices in Pakistan.</p>","PeriodicalId":54369,"journal":{"name":"Journal of the Pakistan Medical Association","volume":"75 4","pages":"627-631"},"PeriodicalIF":0.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144052917","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":"Kleinfelter's syndrome linking awareness with genetic insights.","authors":"Komal Khan, Meenab Fatima, Syed Sameer Naqvi","doi":"10.47391/JPMA.20631","DOIUrl":"https://doi.org/10.47391/JPMA.20631","url":null,"abstract":"","PeriodicalId":54369,"journal":{"name":"Journal of the Pakistan Medical Association","volume":"75 4","pages":"689"},"PeriodicalIF":0.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144062887","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":"Unusual sign of acute retrocaecal appendicitis. a case report.","authors":"Amer Al Ani, Ali Daoud Ali Alshaloudi, Mena Mohammed Al Kubaisi","doi":"10.47391/JPMA.11348","DOIUrl":"https://doi.org/10.47391/JPMA.11348","url":null,"abstract":"<p><p>Acute appendicitis is a common abdominal surgical emergency, typically characterised by classical signs and symptoms such as right lower quadrant abdominal pain, and tenderness, along with laboratory findings of leucocytosis and elevated inflammatory markers. However, this condition can present with atypical signs, creating diagnostic challenges for clinicians. We report an unusual case of acute appendicitis in a 53-year-old male, who exhibited the incidental finding of Grey Turner's sign on the right flank. Grey Turner's sign in the context of acute appendicitis initially raised suspicion of other conditions causing retroperitoneal haemorrhage, such as acute pancreatitis, as the primary differential diagnosis. This case underscores the importance of maintaining a broad differential diagnosis when faced with atypical clinical signs.</p>","PeriodicalId":54369,"journal":{"name":"Journal of the Pakistan Medical Association","volume":"75 4","pages":"642-644"},"PeriodicalIF":0.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144006052","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":"Computed tomography liver volumetry in living donor liver transplantation: influence of the slice thickness on the volume calculation.","authors":"Tooba Fatima, Muhammad Salman Rafique, Sana Kundi, Tahir Malik, Faryal Ijaz, Sahar Zulfiqar","doi":"10.47391/JPMA.11539","DOIUrl":"https://doi.org/10.47391/JPMA.11539","url":null,"abstract":"<p><strong>Objectives: </strong>To evaluate the effect of slice thickness on multidetector computed tomography-based preoperative liver volumetry, and to compare the time consumed during volumetry between thin and thick slices.</p><p><strong>Methods: </strong>The retrospective study was conducted at the Pakistan Kidney and Liver Institute and Research Centre, Lahore, Pakistan, and comprised data from September 2022 to January 2023 of patients who underwent donor hepatectomy. Liver volumetry was done on thick 5mm and thin 0.625mm slices, and the consumed time was calculated. The calculated volumes were then compared to the actual per-operative graft volume. Data was analysed using SPSS 20.</p><p><strong>Results: </strong>Of the 30 donors, 20(66.7%) were males and 10(33.3%) were females. The overall mean age was 26±6.25 years (range: 19-44 years. The mean estimated graft volume on thick slices was 668.57±169.83g compared to 693.70±174.78g on thin slices (p>0.05). The time taken to calculate estimated graft volume on thick slices was 7.29±0.97 minutes compared to 44.07±4.78 minutes on thin slices (p<0.05). The mean actual per-operative graft volume was 632.40±160.03.</p><p><strong>Conclusions: </strong>There was no significant difference between the volumes calculated on thick and thin slices, but there was significant difference in time taken for volumetry.</p>","PeriodicalId":54369,"journal":{"name":"Journal of the Pakistan Medical Association","volume":"75 4","pages":"564-568"},"PeriodicalIF":0.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144058239","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 delay in interval debulking surgery after neoadjuvant chemotherapy on survival in ovarian cancer.","authors":"Kheyal Azam Khalil, Maria Habib, Afshan Saeed Usmani, Muhammad Ansab Shah, Abdul Wahid Anwer, Aamir Ali Syed","doi":"10.47391/JPMA.20168","DOIUrl":"https://doi.org/10.47391/JPMA.20168","url":null,"abstract":"<p><strong>Objectives: </strong>To determine the impact of delay between neoadjuvant chemotherapy and cytoreductive surgery on progression-free survival and overall survival in ovarian cancer cases.</p><p><strong>Methods: </strong>The retrospective study was conducted at the Department of Surgical Oncology, Shaukat Khanum Memorial Cancer Hospital & Research Centre, Lahore, Pakistan, and comprised data from January 2019 to January 2022 of women diagnosed with stage III high-grade serous ovarian cancer who received neoadjuvant chemotherapy and underwent subsequent interval debulking surgery. The patients were divided into groups A and B based on time to surgery within 6 weeks and time to surgery more than 6 weeks, respectively. The endpoint was taken as progression-free survival and overall survival on follow-up. Data was analysed using SPSS 27.</p><p><strong>Results: </strong>Of the 2,100 patients who underwent surgery for ovarian cancer, 118(5.6%) women with mean age 52.18±9.3 years (range: 28-73 years) were included; 53(45%) in group A and 65(55%) in group B. Overall recurrence rate in this cohort was 76(64.4%); 36 (67.9%) in group A and 40 (61.5%) in group B. The mean progression freesurvival was 15±1.5 months in group A and 18±2 months in group B (p=0.854). The mean overall survival across the sample was 44±1.8 months, and intergroup difference was not significant. (p=0.336).</p><p><strong>Conclusions: </strong>Delay in interval debulking surgery after neoadjuvant chemotherapy was not found to have a significant impact on progression-free survival and overall survival in ovarian cancer cases.</p>","PeriodicalId":54369,"journal":{"name":"Journal of the Pakistan Medical Association","volume":"75 4","pages":"583-586"},"PeriodicalIF":0.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144065224","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}