Pakistan Journal of Medical Sciences最新文献

{"title":"Comparative evaluation of the diagnostic value of HALP Score and systemic inflammatory immune index biomarkers in childhood appendicitis.","authors":"Yeliz Kart, Emine Bilaloglu, Adnan Karaibrahimoglu","doi":"10.12669/pjms.41.9.12438","DOIUrl":"10.12669/pjms.41.9.12438","url":null,"abstract":"<p><strong>Objective: </strong>Abdominal pain is a frequent cause of pediatric emergency admissions. While appendicitis is the most common surgical cause, many non-surgical conditions also exist. Delays in diagnosis increase the risk of perforation. Biomarkers like the Systemic Immune Index (SII) and HALP Score have recently been used to predict prognosis in various conditions, especially cancer. This study aimed to evaluate the diagnostic value of SII and HALP scores in pediatric appendicitis, comparing them with each other and with other commonly used or proposed biomarkers.</p><p><strong>Methodology: </strong>Patients under the age of 18 who were hospitalized in the Pediatric Surgery Clinic of Süleyman Demirel University Faculty of Medicine Hospital with suspicion of appendicitis between 2011 and 2023 were included in this study. Demographic data, lab values, surgical notes and pathology results were reviewed. Patients were grouped as nonspecific abdominal pain (NAP), acute appendicitis (AA) and complicated appendicitis (CA).</p><p><strong>Results: </strong>Among 719 patients, 212 had NAP, 403 had AA and 104 had CA. SII was significantly higher in AA compared to NAP and rose with disease severity (p<0.001). HALP scores differed significantly among all groups (p<0.001). SII better distinguished AA from NAP, while HALP was more effective in identifying CA from AA. Increased SII and decreased HALP were linked to higher risk of AA and CA.</p><p><strong>Conclusions: </strong>No single marker reliably differentiates NAP, AA and CA. This study suggests that SII is useful in identifying AA, while HALP better detects CA, indicating both markers may aid in the diagnostic process of pediatric abdominal pain.</p>","PeriodicalId":19958,"journal":{"name":"Pakistan Journal of Medical Sciences","volume":"41 9","pages":"2486-2490"},"PeriodicalIF":1.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12505928/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145258766","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring the Socio-cultural Dynamics of Treatment Adherence amongst Females living with Pulmonary Tuberculosis in Karachi, Pakistan.","authors":"Abeer Mian, Mehjabeen Musharraf, Lubna Ansari Baig","doi":"10.12669/pjms.41.9.11726","DOIUrl":"10.12669/pjms.41.9.11726","url":null,"abstract":"<p><strong>Objective: </strong>To explore socio-cultural and grassroots factors influencing treatment non-adherence amongst females living with Pulmonary Tuberculosis (TB).</p><p><strong>Methodology: </strong>A qualitative Phenomenological design was adopted. Twelve in-depth interviews were conducted at a TB Clinic in Karachi (The Behbud Health Clinic) from February, 2020 to May, 2020 with participants including (i) females living with Pulmonary TB and (ii) healthcare providers engaged in TB service-provision. Interviews were semi-structured and conducted in-person. Data was analyzed inductively using thematic analysis.</p><p><strong>Results: </strong>Three themes contributing to treatment non-adherence emerged, which are: i) the burden of home-making with sub-themes of a culture of matriarchy, traditional household norms, and intended non-disclosure of TB status; ii) the journey of pursing treatment with subthemes of challenges in accessing diagnostic services, barriers in treatment adherence/continuation, unique treatment-related misconceptions; and iii) TB myths with subthemes emphasizing local rumors and an inherent lack of trust in public healthcare services.</p><p><strong>Conclusion: </strong>This study reveals important grassroots, socio-cultural and physical barriers to treatment adherence among women, including gender, social norms and treatment demands. Addressing these requires a holistic approach prioritizing community awareness with a focus on understanding day-to-day lived experiences of TB and building healthcare provider capacity to provide treatment services that are responsive and sensitive to these barriers.</p>","PeriodicalId":19958,"journal":{"name":"Pakistan Journal of Medical Sciences","volume":"41 9","pages":"2491-2498"},"PeriodicalIF":1.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12505931/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145258807","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Stitch in Time - Emergency Repair of post-ROSC patient with Acute Traumatic Cardiac Tamponade following Penetrating Chest Trauma.","authors":"Muhammad Saad Sikander, Osama Abdul Mateen, Muhammad Saad Farooq, Tariq Mehmood","doi":"10.12669/pjms.41.9.11163","DOIUrl":"10.12669/pjms.41.9.11163","url":null,"abstract":"<p><p>A 22-year-old male was brought to the ER with multiple chest stab wounds. The patient arrived in Grade-III shock. He collapsed shortly after arriving and needed CPR and was recovered. Blood transfusions were beginning immediately and bilateral chest tubes were passed. Despite these efforts, he had another cardiac arrest and was revived with another CPR. An eFAST scan, ECG and portable X-Ray confirmed severe Cardiac tamponade with bilateral Hemothorax. A 20 cc pericardiocentesis was performed and dobutamine infusion was started. He was rushed to OT where emergency evacuation of tamponade along with repair of injuries was performed. He was subsequently shifted to ICU where he received post-operative care and was discharged on tenth post-operative day.</p>","PeriodicalId":19958,"journal":{"name":"Pakistan Journal of Medical Sciences","volume":"41 9","pages":"2704-2706"},"PeriodicalIF":1.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12505914/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145258811","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reconstruction of Iatrogenic Bile Duct Injuries following Laparoscopic Cholecystectomy.","authors":"Ainul Hadi, Imranuddin Khan, Farrukh Ozair Shah","doi":"10.12669/pjms.41.9.11870","DOIUrl":"10.12669/pjms.41.9.11870","url":null,"abstract":"<p><strong>Objectives: </strong>To find out the management outcomes of iatrogenic bile duct injuries following laparoscopic cholecystectomy.</p><p><strong>Methodology: </strong>In this descriptive case series study total of 90 patients of both gender and who sustained extra hepatic biliary injuries, were included. Patients managed through ERCP and stenting and those with hepatobiliary malignancy were excluded. These 90 cases included those patients who sustained biliary injury during laparoscopic cholecystectomy at the department of surgery, Hayatabad Medical complex, Peshawar from July 2021 to June 2024 and those referred from peripheral hospitals and Afghanistan. Investigations modalities included abdominal ultrasonography and MRCP in all referred cases while ERCP was performed in selected cases. Procedures were performed by senior surgeons. Patients were followed up in outpatient department (OPD) for six months. Data was collected on a predesigned proforma and analyzed through SPSS version 16.</p><p><strong>Results: </strong>The age range of patients was 28-56 years with a mean age of 43 years (SD ± 2.5 years). Male to Female ratio was 1:5. The presenting complaints were pain (77.8%), jaundice (76.7%), fever (74.4%), biloma (50.0%) and persistent biliary leak (40.0%). Sites of injury involved CHD (26.7%), CBD (53.3%), porta hepatis (7.8%) and 12.2% cases had biliary strictures. The most commonly performed procedure was Roux- en-Y hepaticojejunostomy (54.4%) followed by Choledochodudenostomy (21.1%), primary repair (16.7%) and Roux-en-Y Portoenterostomy (7.8%). Postoperative morbidity included bile leakage (8.9%), wound infection (16.7%), recurrent cholangitis (20.0%) and anastomotic stenosis (3.3%). Mortality rate was 4.4% and overall success rate was 95.6%.</p><p><strong>Conclusions: </strong>CBD was the most frequent site injured during laparoscopic cholecystectomy. Roux-en-Y hepaticojejunostomy is the most commonly performed procedure with a good success rate in experienced hands.</p>","PeriodicalId":19958,"journal":{"name":"Pakistan Journal of Medical Sciences","volume":"41 9","pages":"2535-2539"},"PeriodicalIF":1.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12505915/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145258820","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of ultrasound of different intensities plus neurotrophic factors on inflammatory markers and oxidative stress, and clinical efficacy in patients with diabetic peripheral neuropathic pain.","authors":"Weili Ji, Meng Li, Lingzhi Li, Xue Bai, Fengjuan Wang","doi":"10.12669/pjms.41.9.11619","DOIUrl":"10.12669/pjms.41.9.11619","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the efficacy of different ultrasound intensities combined with neurotrophic factors (NTFs) in diabetic peripheral neuropathic pain (DPNP) patients, focusing on pain relief, inflammation, and oxidative stress.</p><p><strong>Methodology: </strong>In this retrospective study, a total of 180 patients with DPNP admitted to Affiliated Hospital of Hebei University from October 2022 to December 2023 were randomized into control (gabapentin), low-dose (L: 0.5-1.0 W/cm²), and medium-dose (M: 1.0-1.75 W/cm²) ultrasound groups, all receiving 20 mg/day ganglioside for 5 weeks. Outcomes included Visual Analog Scale (VAS) scores, inflammatory markers (TNF-α, CRP, IL-6), and oxidative stress markers (SOD, GSH-Px, TAC, CAT, GR).</p><p><strong>Results: </strong>The L group showed higher overall response rates (88.33%) versus M (73.33%) and control (53.33%) (P=0.000). VAS scores decreased most in L group (P=0.00). TNF-α, CRP, and IL-6 levels reduced significantly in L/M groups versus control (P<0.05), with no intergroup differences (P>0.05). SOD, GSH-Px, TAC, and CAT levels improved most in L group (P=0.00). GR levels showed no significant difference among these groups (P = 0.88).</p><p><strong>Conclusion: </strong>Low-dose ultrasound combined with NTFs significantly alleviates DPNP pain, reduces inflammation, and enhances antioxidant capacity, demonstrating superior clinical efficacy.</p>","PeriodicalId":19958,"journal":{"name":"Pakistan Journal of Medical Sciences","volume":"41 9","pages":"2481-2485"},"PeriodicalIF":1.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12505926/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145258696","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optimizing Dental Implant Success: Biomechanical Insights, Computer-Guided Precision and The Role of Open Guide Systems in Achieving Cost-Effective and Accessible Treatment.","authors":"Abdulaziz Abdullah Alkhureif, Majed M Alsarani, Aftab Ahmed Khan, Aisha Wasi","doi":"10.12669/pjms.41.9.11808","DOIUrl":"10.12669/pjms.41.9.11808","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to compare the positional and angular accuracy of digitally planned implant placements with an open-guide system, using a vision measuring machine (VMM).</p><p><strong>Methodology: </strong>This in vitro experimental study, conducted at King Saud University (May to September 2024), involved placing 24 endosseous implants into eight replaceable bone blocks. Three implants were placed in each bone block (Nissin™ Dental, Japan), measuring approximately 50 mm (L) × 25 mm (W) × 20 mm (H). A jaw model simulating a partially edentulous mandible was used. Preoperative CBCT scans and virtual surgical planning software guided the fabrication of stereolithographic surgical templates. Post-placement, implant accuracy was assessed using the VMM.</p><p><strong>Results: </strong>The open-guide system (Group-B) demonstrated significantly improved linear (e.g., L I- II: 1.09 mm, p = 0.001) and angular accuracy (e.g., P III deviation from 90º: 9.59º, p = 0.000) compared to digital planning alone (Group-A). Vertical accuracy, however, was inconsistent, with some deviations reaching significance (e.g., V DI: p = 0.000), while others did not (e.g., V DII: p = 0.552).</p><p><strong>Conclusion: </strong>The stereolithographic open-guide system enhances linear and angular precision in implant placement, particularly in multi-implant cases. However, vertical accuracy remains less predictable, warranting further refinement for improved surgical outcomes.</p>","PeriodicalId":19958,"journal":{"name":"Pakistan Journal of Medical Sciences","volume":"41 9","pages":"2529-2534"},"PeriodicalIF":1.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12505945/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145258872","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of Genetic Risk Variants in SETBP1, FANCM, and LSP1 with Familial Breast Cancer in the Pakistani Pashtun Population.","authors":"Hussain Shah, Muhammad Saeed, Asif Jan, Zakiullah","doi":"10.12669/pjms.41.9.12324","DOIUrl":"10.12669/pjms.41.9.12324","url":null,"abstract":"<p><strong>Background and objective: </strong>Familial breast cancer is often linked to inherited gene mutations. These mutations significantly increase the risk of developing breast cancer within affected families. The objective of this study was to identify genetic risk variants in SETBP1, FANCM, and LSP1 genes and its association with familial breast cancer in Pakistani Pashtun population.</p><p><strong>Methods: </strong>This case-control study was conducted at the Genomic Center, Rehman Medical Institute, Peshawar, from January 10/2018 to February 01/2020. A total of n=172 individuals were included in the study, consisting of 86 breast cancer subjects (cases) and 86 Healthy participants (controls). Whole exome sequencing and follow-up association analysis was used to identify risk variants associated with breast cancer.</p><p><strong>Results: </strong>Exome sequencing identified four variants in genes of our interest (SETBP1, FANCM, and LSP1). Among these, the SNP rs11082414 in SETBP1 (crude P=0.011; adjusted p=0.003) showed a strong positive association with breast cancer in the Pakistani Pashtun population. Whereas SNPs rs34252356 in FANCM (crude P=0.260; adjusted p=0.199), rs793842 in LSP1 (crude P=0.220; adjusted p=0.173), and rs621679 in SETBP1 (crude P=0.112; adjusted p=0.207) showed no notable association with breast cancer in the study population.</p><p><strong>Conclusion: </strong>This research enhances our understanding of the genetic risk factors for breast cancer in the Pashtun population and underscores the potential importance of the SETBP1 rs11082414 variant in identifying individuals at risk. The identification of genetic biomarkers can facilitate the development of targeted drug therapies, improve early detection, and enhance the effective management of breast cancer.</p>","PeriodicalId":19958,"journal":{"name":"Pakistan Journal of Medical Sciences","volume":"41 9","pages":"2558-2564"},"PeriodicalIF":1.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12505940/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145258873","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of toxoplasma, rubella, and cytomegalovirus seroprevalence and avidity testing in pregnant women.","authors":"Banu Humeyra Keskin, Betul Altıntas Oner","doi":"10.12669/pjms.41.9.12453","DOIUrl":"10.12669/pjms.41.9.12453","url":null,"abstract":"<p><strong>Objectives: </strong>This study aimed to determine the seroprevalence of Toxoplasma, Rubella, and Cytomegalovirus (CMV) pathogens capable of transplacental transmission leading to significant perinatal morbidity and mortality in pregnant women, and to provide updated regional data for clinical guidance.</p><p><strong>Methodology: </strong>In this retrospectively study toxoplasma, rubella and CMV antibody results studied using electrochemiluminescence immunoassay in the sera of pregnant women who applied to Zonguldak Gynecology and Obstetrics Hospital between June 2022 and June 2024 were retrospectively analyzed.</p><p><strong>Results: </strong>Among 2816 pregnant women, IgG seropositivity was observed in 697 (24.8%) for <i>Toxoplasma gondii</i>, 2623 (93.6%) for Rubella, and 2755 (98.3%) for CMV. IgM seropositivity was found in 62 (2.2%), 18 (0.6%), and 21 (0.7%) patients, respectively. Toxoplasma IgG seropositivity was significantly higher in women aged ≥40 years, while Rubella IgG positivity peaked in the 25-29 age group (p<0.05).</p><p><strong>Conclusion: </strong>In conclusion, the rate of Toxoplasma seronegativity found in our study suggests that screening of women would be beneficial and that studies of these infections, in which regional differences in seroprevalence are observed, would contribute to the development of appropriate strategies for screening.</p>","PeriodicalId":19958,"journal":{"name":"Pakistan Journal of Medical Sciences","volume":"41 9","pages":"2595-2599"},"PeriodicalIF":1.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12505952/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145258869","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The efficacy and safety of percutaneous coronary intervention via distal transradial access in the treatment of coronary heart disease patients.","authors":"Dongqin Ge, Gaojun Cai, Feng Li, Qiuwei Zhang","doi":"10.12669/pjms.41.9.12603","DOIUrl":"10.12669/pjms.41.9.12603","url":null,"abstract":"<p><strong>Objective: </strong>To explore the efficacy and safety of percutaneous coronary intervention (PCI) through the distal transradial access (dTRA) for the treatment of coronary heart disease (CHD).</p><p><strong>Methodology: </strong>This retrospective cohort analysis included records of CHD patients who underwent PCI in Wujin People's Hospital between January, 2023 to December, 2024. Patients (n=107) were grouped based on the access method. Patients (n=55) who received dTRA comprised the dTRA group, and patients (n=52) who received standard transradial access (TRA) comprised the TRA group. Basic clinical information, surgery-related indicators, and the incidence and types of complications were compared between the dTRA and TRA groups.</p><p><strong>Results: </strong>There was no statistically significant difference in the initial puncture success rate, puncture frequency, contrast agent dosage, X-ray exposure time, and surgical time between the two groups (all P>0.05). The dTRA group had a longer puncture time than the TRA group, but the postoperative compression time was significantly reduced (both P<0.05). There was no significant difference in the incidence of individual complications between the two groups (both P>0.05). However, the total number of complications in the dTRA group was significantly lower than that in the TRA group (10.9% vs. 28.8%) (P<0.05).</p><p><strong>Conclusions: </strong>Compared with TRA, dTRA has certain advantages in the PCI treatment of CHD, especially in terms of reducing the postoperative compression time and the overall incidence of complications.</p>","PeriodicalId":19958,"journal":{"name":"Pakistan Journal of Medical Sciences","volume":"41 9","pages":"2652-2657"},"PeriodicalIF":1.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12505935/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145258835","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Anti-Mullerian Hormone Gene Polymorphism in Polycystic ovary syndrome: A pilot study.","authors":"Laiba Rehmat, Samar Zaki, Haq Nawaz Khan, Unab I Khan, Rehana Rehman","doi":"10.12669/pjms.41.9.12104","DOIUrl":"10.12669/pjms.41.9.12104","url":null,"abstract":"<p><strong>Background & objective: </strong>Polycystic ovary syndrome (PCOS) is a heterogeneous endocrine condition; characterized by ovulatory disturbance, which is attributed to elevated anti Mullerian hormone (AMH) levels. We compared AMH levels in females with and without PCOS and aimed to determine the genetic variant; rs10407022 in <i>AMH</i> of Pakistani females with PCOS.</p><p><strong>Methodology: </strong>This case control study was conducted at Aga Khan University from January, 2024 till November, 2024 on 99 female subjects (49 PCOS, 50 controls). Serum AMH levels were measured using commercially available kits and the genotyping of <i>AMH</i> rs10407022 SNP was done by Tetra-ARMS-PCR in both groups. Results were validated by Polymerase Chain Reaction-Restricted Fragment Length Polymorphism (PCR-RFLP). Final validation was conducted via Sanger DNA sequencing of randomly selected samples of PCOS females.</p><p><strong>Results: </strong>Higher AMH levels were observed in females with PCOS [6.47 ± 6.05 vs 3.06 ± 1.91(ng/ml); <i>p</i> value <0.0001]. PCR amplified the AMH (rs10407022) in PCOS samples, showing control band at 238 bp and band at 135 bp for genotype. Further, the SNP (Homozygous WT/MT and heterozygous) was validated by RFLP and a gold standard Sanger DNA sequencing.</p><p><strong>Conclusion: </strong>High AMH levels associated with the genetic variant (rs10407022) of <i>AMH</i> suggest role of <i>AMH</i> gene dysregulation in the manifestation of PCOS.</p>","PeriodicalId":19958,"journal":{"name":"Pakistan Journal of Medical Sciences","volume":"41 9","pages":"2646-2651"},"PeriodicalIF":1.2,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12505944/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145258838","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}