Journal of Family Medicine and Primary Care最新文献

{"title":"Ensuring safe and effective pharmacotherapy: The role of \"community pharmacology\" in attaining \"health for all\" from the Indian perspective.","authors":"Tirthankar Deb, Alapan Das, Bisweswar Ojha, Prasanjit Das","doi":"10.4103/jfmpc.jfmpc_1226_24","DOIUrl":"10.4103/jfmpc.jfmpc_1226_24","url":null,"abstract":"<p><p>The novel approach of \"Community Pharmacology\" integrates pharmacological principles with community health to achieve the \"Health for all\" goal through safe and efficient health care. Pharmacovigilance, medication errors (ME), irrational prescriptions, and antimicrobial resistance in the community could be the key areas. Though life expectancy and other health indicators have improved in India, the disparity between rural and urban quality healthcare access should be addressed. Despite India's enormous progress in vaccine manufacture, supply, and mass immunization through the Universal Immunization Programme (UIP) and Mission Indradhanush, issues remain in incomplete coverage and vaccine hesitancy. Other key challenges include high health expenditures, shortage of trained healthcare professionals, and lack of patient safety and irrational pharmacotherapy in remote areas. Community Pharmacology offers a multifaceted solution in community healthcare delivery through a well-designed integrated network equipped with skills in practical implications of pharmacology aimed at better medication supply, storage and dispensing, adherence to formularies according to the community needs, preparing Essential Medicine List and implementation of rational prescribing. Antimicrobial stewardship (AMS), adverse drug reaction (ADR) monitoring, and evidence-based usage of different drug formulations or drug delivery systems must be implemented beyond the tertiary level, involving both public and private stakeholders. Integrating Community Pharmacology into public health is crucial for fulfilling the global health initiatives to reach the Sustainable Development Goals (SDGs) as well as attaining India's ambitious overall development targets.</p>","PeriodicalId":15856,"journal":{"name":"Journal of Family Medicine and Primary Care","volume":"13 12","pages":"5465-5471"},"PeriodicalIF":1.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11709049/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142950063","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Addressing the urgent need for tobacco control among adolescents.","authors":"Shubham Jagannath Shivale, Divya Madamanchi","doi":"10.4103/jfmpc.jfmpc_941_24","DOIUrl":"10.4103/jfmpc.jfmpc_941_24","url":null,"abstract":"","PeriodicalId":15856,"journal":{"name":"Journal of Family Medicine and Primary Care","volume":"13 12","pages":"5935-5936"},"PeriodicalIF":1.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11709040/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142950104","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparative efficacy and safety of co-amoxiclav, cefpodoxime proxetil, and levofloxacin in patients with acute uncomplicated bacterial tonsillitis: A prospective, open-label, parallel group study.","authors":"Suja Xaviar, K Girish, B Jagannath, Saibal Das, Probin Joseph","doi":"10.4103/jfmpc.jfmpc_693_24","DOIUrl":"10.4103/jfmpc.jfmpc_693_24","url":null,"abstract":"<p><strong>Background: </strong>No clinical trials have compared the efficacy and safety of beta-lactam antibiotics and fluoroquinolones in acute uncomplicated bacterial tonsillitis. This study aimed to compare the efficacy and safety of co-amoxiclav (amoxicillin/clavulanic acid), cefpodoxime proxetil, and levofloxacin monotherapy in patients with acute uncomplicated bacterial tonsillitis.</p><p><strong>Methods: </strong>This was a prospective, open-label, parallel-group study where 90 patients with acute uncomplicated bacterial tonsillitis were equally divided into three groups to receive either tablet co-amoxiclav 625 mg thrice daily, tablet cefpodoxime proxetil 200 mg twice daily, or tablet levofloxacin 500 mg once daily for five days. The efficacy was assessed by subjective clinical improvement and objective bacteriological cure at the end of treatment. Safety was assessed by monitoring adverse events during the study period.</p><p><strong>Results: </strong>Co-amoxiclav, cefpodoxime proxetil, and levofloxacin showed comparable clinical responses on days three and seven; however, on day five, levofloxacin showed a significantly reduced cure rate, but a higher improvement rate, than co-amoxiclav and cefpodoxime proxetil. Bacteriologically, the responses were similar in all three groups at week 1. All drugs were well tolerated with a few self-limiting adverse effects.</p><p><strong>Conclusions: </strong>Co-amoxiclav, cefpodoxime proxetil, and levofloxacin showed a comparable clinical and bacteriological cure in acute uncomplicated bacterial tonsillitis and showed a good safety profile.</p>","PeriodicalId":15856,"journal":{"name":"Journal of Family Medicine and Primary Care","volume":"13 12","pages":"5570-5574"},"PeriodicalIF":1.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11709012/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142950049","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessing the mask-wearing habit as a contributing factor for COVID-19-associated mucormycosis.","authors":"Bhawna Saini, Ambika Gupta, Suman Bisla, Komal Kumia, Shubhangi Shukla, Kime Yama","doi":"10.4103/jfmpc.jfmpc_887_24","DOIUrl":"10.4103/jfmpc.jfmpc_887_24","url":null,"abstract":"<p><strong>Introduction: </strong>Association of mask-wearing habit and mucormycosis.</p><p><strong>Context: </strong>During the second wave of the COVID-19 pandemic, there was an absurd surge in cases of mucormycosis. COVID-19-associated mucormycosis (CAM) was found to be associated with the presence of diabetes, use of systemic steroids, prolonged use of masks, and others. The improper use of masks was proposed to be treacherous.</p><p><strong>Methods and material: </strong>A case-control study was planned in which the patients coming to the dental OPD over a period of 6 months were asked to fill out a questionnaire validated by experts.</p><p><strong>Results: </strong>A total of 100 participants were included in the study. Out of 100 patients, 43 opted for surgical/N95 masks, whereas others were seen using different fabric mass. Mask-wearing habits are not a contributing factor for CAM. (<i>P</i> value > 0.005).</p><p><strong>Conclusions: </strong>Such studies give us an idea of the impact of hygiene habits on infectious diseases, further studies are required on a larger sample.</p>","PeriodicalId":15856,"journal":{"name":"Journal of Family Medicine and Primary Care","volume":"13 12","pages":"5766-5774"},"PeriodicalIF":1.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11709072/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142950111","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence and associated factors of uncontrolled blood pressure among hypertensive patients in a rural population of Salem, Tamil Nadu.","authors":"Shankar Radhakrishnan, B Sanjana Arunthathi, S Arulprakash, S Sangeetha","doi":"10.4103/jfmpc.jfmpc_709_24","DOIUrl":"10.4103/jfmpc.jfmpc_709_24","url":null,"abstract":"<p><strong>Introduction: </strong>Hypertension, a significant risk factor for cardiovascular diseases, is a prevalent public health concern globally. It imposes a substantial burden on healthcare systems, particularly in low and middle-income countries like India. Despite the availability of effective treatments, hypertension remains poorly controlled leading to increased morbidity and mortality. Rural areas often face unique challenges in managing hypertension due to limited healthcare access and awareness.</p><p><strong>Objectives: </strong>The study aimed to estimate the prevalence of uncontrolled hypertension and to identify associated factors among hypertensive patients in rural Salem.</p><p><strong>Materials and methods: </strong>A hospital-based cross-sectional study was conducted at the Rural Health Training Centre over six months. A total of 382 hypertensive adults aged 18 years and above were included. Data on sociodemographic characteristics, lifestyle factors and clinical profiles were collected using a pretested semistructured questionnaire. Clinical measurements included blood pressure, BMI, and laboratory investigations. Statistical analysis included Chi-square tests and logistic regression to determine factors associated with uncontrolled hypertension.</p><p><strong>Results: </strong>The study revealed a high prevalence of uncontrolled hypertension (62%) among rural hypertensive patients. Factors significantly associated with uncontrolled hypertension included older age (>60 years) (odds ratio [OR] = 2.3, <i>P</i> = 0.027), obesity (OR = 2.7, <i>P</i> = 0.001), employment (OR = 1.5, <i>P</i> = 0.048), diabetes (OR = 2.6, <i>P</i> = 0.036), alcohol consumption (OR = 2.8, <i>P</i> < 0.001), and lack of physical activity (OR = 3.2, <i>P</i> = 0.034). Compliance to treatment was associated with better blood pressure control (<i>P</i> = 0.002) with noncompliant patients having 1.23 times higher odds of uncontrolled hypertension.</p><p><strong>Conclusion: </strong>The study emphasizes the urgent need for tailored interventions addressing lifestyle modifications, patient education, adherence to treatment regimens, and improved healthcare access to enhance hypertension management. These efforts are crucial for reducing the burden of cardiovascular diseases and improving public health outcomes in rural communities.</p>","PeriodicalId":15856,"journal":{"name":"Journal of Family Medicine and Primary Care","volume":"13 12","pages":"5818-5824"},"PeriodicalIF":1.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11709057/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142950117","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence and risk factors of gastroesophageal reflux disease among adults attending primary healthcare in Bahrain.","authors":"Dhuha F Alqassab, Maryam J Hasan, Ayman M AlSaadoon, Aysha J AlMuqahwi, Farah A AlAwadhi, Samya A Bahram, Adel S Alsayyad","doi":"10.4103/jfmpc.jfmpc_968_24","DOIUrl":"10.4103/jfmpc.jfmpc_968_24","url":null,"abstract":"<p><strong>Background: </strong>Gastroesophageal reflux disease (GERD) is one of the most diagnosed digestive disorders, with much-conducted research assessing its prevalence and risk factors associated with it worldwide. However, there are no published previous studies to determine such disease and its burden in Bahrain. Hence, this study aims to estimate the prevalence and evaluate the risk factors associated with GERD among adults attending primary care in Bahrain.</p><p><strong>Material and methodology: </strong>A total of 385 adults aged 18 years and above participated in this descriptive cross-sectional study in the period from 1^st to 27^th of April 2023. The sample was collected randomly through an interview-based validated questionnaire from 10 health centers selected randomly. The questionnaire consisted of three sections: Demographic characteristics, risk factors that are associated with GERD and (GERD-Q) questionnaire with a scoring rate for the diagnosis of GERD, in which a score of 8 or more gives us the diagnosis of GERD.</p><p><strong>Results: </strong>A response rate of 93.6% was accomplished. Most of the participants were female (53.2%), Bahraini (88.6%), university-educated (50.9%) and married (71.2%). The mean age of the participants was 41.5 (SD = ±14.4 years). The prevalence of GERD was 41.5% which was statistically significant associated with family history of GERD, history of hypertension, sleeping within less than 1 hour after dinner, bariatric surgery and use of NSAIDs or Aspirin regularly (<i>P</i> < 0.05).</p><p><strong>Conclusions: </strong>The prevalence of GERD was 41.5%, which is higher than in the Middle East, East Asia and Western countries. Many modifiable risk factors where associate with it which deserves the conduction of national prevention programs and educational campaigns to prevent this disease and its complications. Further studies are needed to assess other risk factors and the effect of GERD on the overall health status and quality of life.</p>","PeriodicalId":15856,"journal":{"name":"Journal of Family Medicine and Primary Care","volume":"13 12","pages":"5758-5765"},"PeriodicalIF":1.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11709045/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142950132","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cardiovascular wellness in low-resource settings: A mobile app-based risk prediction study among fuel filling station employees in Puducherry district.","authors":"Divyabharathy Ramadass, Jyothi Vasudevan, Madonna J Dsouza, Baalaji Subramanian","doi":"10.4103/jfmpc.jfmpc_638_24","DOIUrl":"10.4103/jfmpc.jfmpc_638_24","url":null,"abstract":"<p><strong>Background: </strong>India is witnessing a significant increase in the prevalence of non-communicable diseases (NCDs), and addressing this requires a comprehensive and multi-faceted approach. The burden of NCDs puts a strain on the healthcare system, requiring an increased focus on preventive measures, early detection, and management of chronic conditions. Adopting a risk-based approach to cardiovascular diseases (CVDs) in resource-poor settings offers several economic and social advantages.</p><p><strong>Aims and objectives: </strong>The aim of the study was to assess the prevalence of CVD risk factors among fuel filling station employees in the Puducherry district and the 10-year CVD risk prediction score among the study participants with the World Health Organisation package of essential non-communicable (WHO PEN) app and package for resource-poor settings.</p><p><strong>Methods: </strong>A community-based cross-sectional study was conducted among the fuel filling station employees in Puducherry. A universal sampling method was employed. The data were collected using a pilot-tested, predesigned, structured questionnaire and the WHO PEN app was used to estimate the CVD risk score. The data were collected from February 2021 to January 2022 and analysed using Statistical Package for Social Sciences (SPSS) version 20. Frequency distribution along with the Chi-square test was employed to test statistical significance.</p><p><strong>Results: </strong>Out of 212 subjects, 170 (80.2%) were males, out of which 116 (54.7%) were between 40 and 50 years old. Nearly half the participants (48%) had CVD risk scores ranging from 5 to 20%, with an increased prevalence of CVD risk factors, namely, obesity/overweight (65.5%), physical inactivity (58.5%), hypertension (52%), alcohol consumption (51%) and tobacco consumption in any form (25.5%).</p><p><strong>Conclusions: </strong>This study sheds light on the sedentary nature of the occupation and the increased prevalence of CVD risk factors among the study participants. It is also evident that the participants had higher CVD risk scores for developing CVDs in the future. Recommendations: The use of mobile-based apps can be used as a feasible strategy to save scarce resources in delivering primary health care. We also propose that the nature of occupation be taken into account as one of the parameters for risk prediction. Risk prediction assessment should be made mandatory during the annual examination of employees.</p>","PeriodicalId":15856,"journal":{"name":"Journal of Family Medicine and Primary Care","volume":"13 12","pages":"5714-5719"},"PeriodicalIF":1.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11709064/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142950029","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessment of services provided by urban ASHAs to mothers of urban slums in Lucknow district - A cross-sectional study.","authors":"Santosh Kumar, Monika Agarwal, H Dinesh Kumar","doi":"10.4103/jfmpc.jfmpc_687_24","DOIUrl":"10.4103/jfmpc.jfmpc_687_24","url":null,"abstract":"<p><strong>Context: </strong>Maternal and child health is an important public health issue which indicates the level of socioeconomic development in any country. Urban accredited social health activist (U-ASHA) workers in India are the main front-line urban health workers in primary health care delivery for slum and urban poor.</p><p><strong>Aims: </strong>To assess the services provided by U-ASHA workers to mothers of urban slums for antenatal and postnatal care.</p><p><strong>Settings and design: </strong>Cross-sectional study in urban slums of Lucknow where recently delivered women (up to 2 years) were selected.</p><p><strong>Methods and material: </strong>To include the desired sample size of 320 recently delivered women (RDW), the U-ASHAs of the selected slums were contacted and a list of RDWs was made for each slum. By simple random sampling, 20 RDWs were selected from each slum. A predesigned and pretested interview schedule was used for data collection.</p><p><strong>Statistical analysis used: </strong>SPSS-version-26 was used. <i>P</i> <0.05 was considered statistically significant.</p><p><strong>Results: </strong>The registered pregnancies were 95%. Only 43.1% of RDW had at least four ANC visits. The institutional delivery was 84.7%. Only 27.7% of RDW visited health facilities for PNC services. About 39.4% received Janani Suraksha Yojana incentives. Contraceptive users were only 41.9%. Counseling by U-ASHA workers regarding all the ANC and PNC services had better utilization among counseled RDW except for child-care counseling.</p><p><strong>Conclusions: </strong>Counseling services regarding ANC and PNC services have a significant impact on their utilization. Better results can be achieved if the counseling by U-ASHA is enhanced to reach out more beneficiaries.</p>","PeriodicalId":15856,"journal":{"name":"Journal of Family Medicine and Primary Care","volume":"13 12","pages":"5667-5673"},"PeriodicalIF":1.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11709033/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949561","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Does early heart rate detection and continuous monitoring have an impact on neonatal resuscitation in newborns with intact cord? - An observational study.","authors":"Sushil Choudhary, Arun Singh, Anurag Pandey, Neeraj Gupta, Anil Kumar, Swasthi Kabisatpathy","doi":"10.4103/jfmpc.jfmpc_752_24","DOIUrl":"10.4103/jfmpc.jfmpc_752_24","url":null,"abstract":"<p><strong>Context: </strong>Heart rate (HR) is the most vital parameter to assess hemodynamic transition at birth. ECG is considered a gold standard for HR assessment. New devices with dry electrodes are easy to apply on a wet newborn. However, the utilization of newer technology that captures fast and reliable HR, and its impact on neonate resuscitation are yet to be explored, especially in newborns with intact cords.</p><p><strong>Aims: </strong>to detect HR early by dry electrode devices and its impact on neonatal resuscitation.</p><p><strong>Settings and design: </strong>This is an observational study conducted at a tertiary care hospital in India.</p><p><strong>Methods and material: </strong>A portable pulse oximeter, conventional ECG with modified 3 electrodes, and dry electrodes ECG (Neo Beat) were applied to capture HR ECG and Sp0₂. First reliable HR and outcomes of neonates were compared.</p><p><strong>Statistical analysis used: </strong>Median (IQR) was calculated for quantitative data. These were conducted using an updated version of IBM SPSS Statistics 22 software.</p><p><strong>Results: </strong>Out of 329 newborns, 24 newborns had their first documented HR of less than 100 bpm, out of which 14 (58%) initiated respiration with initial steps and the rest 10 required resuscitation (42%) in the form of positive pressure ventilation. Among newborns with a first HR of more than 100 bpm, 8 newborns (2.6%) required resuscitation. The median duration to capture the first reliable HR using dry electrodes was 15 sec (IQR 12.7-20 sec), which was much faster than the time required by conventional ECG (37 sec) and pulse oximetry (80 sec).</p><p><strong>Conclusions: </strong>First reliable HR can effectively predict the need for neonatal resuscitation. Dry electrode ECG can effectively capture continuous and reliable HR. HR trends can further assist in predicting the need for neonatal resuscitation and the efficacy of neonatal resuscitation.</p>","PeriodicalId":15856,"journal":{"name":"Journal of Family Medicine and Primary Care","volume":"13 12","pages":"5655-5661"},"PeriodicalIF":1.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11709070/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949978","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Case report: Kabuki syndrome and persistent hypoglycemia in neonates.","authors":"Osama Y Safdar, Miral M Abddulghfar, Renad N Saaty, Zahrah Bernawi, Reem Babteen, Osama M Felemban","doi":"10.4103/jfmpc.jfmpc_674_24","DOIUrl":"10.4103/jfmpc.jfmpc_674_24","url":null,"abstract":"<p><p>The Kabuki syndrome (KS) is a rare congenital disease that has two different types, KS1 and KS2, with variant in epigenetic gene KMT2D and KDM6A, respectively. It is associated with multiple abnormalities such as (developmental delay, atypical facial features, cardiac anomalies, minor skeleton anomalies, genitourinary anomalies, and mild to moderate intellectual disability). This syndrome can lead to neonatal hypoglycemia that results from hyperinsulinemia and electrolyte abnormalities. We described 18-month-old Egyptian girl with Kabuki syndrome type 2 presented with persistent hypoglycemia since birth and accompanied by an abnormality in urine concentration, and blood gases showed academia. She was treated medically. The diagnosis was made at the age of five months. Growth failure and developmental delay were noted during the patient's growth. We found that KS2 with heterozygous gene mutation KDM6A, which had related with severe hypoglycemia in neonates. Mostly due to congenital hyperinsulinism for further investigations. We aim to increase the awareness of different genetic diseases that are related to neonatal hypoglycemia and early recognition and treatment to prevent the neurodevelopmental complication and improve the outcome.</p>","PeriodicalId":15856,"journal":{"name":"Journal of Family Medicine and Primary Care","volume":"13 12","pages":"5900-5902"},"PeriodicalIF":1.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11709074/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142950036","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}