Pub Date : 2024-07-01DOI: 10.15537/smj.2024.45.7.20230464
Jamie Fairweather, Ali S Jawad
{"title":"Overcoming socioeconomic obstacles is important in achieving equity in health care.","authors":"Jamie Fairweather, Ali S Jawad","doi":"10.15537/smj.2024.45.7.20230464","DOIUrl":"10.15537/smj.2024.45.7.20230464","url":null,"abstract":"","PeriodicalId":21453,"journal":{"name":"Saudi Medical Journal","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11237286/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141493193","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}
Objectives: To understand the prevalence and survival rates of preterm birth (PTB) is of utmost importance in informing healthcare planning, improving neonatal care, enhancing maternal and infant health, monitoring long-term outcomes, and guiding policy and advocacy efforts.
Methods: The medical records of preterm infants admitted to the Neonatal Intensive Care Unit (NICU) with a diagnosis of prematurity at the Maternity and Children's Hospital (MCH), Al Kharj, Saudi Arabia, were reviewed between January 2018 and December 2022. Data were collected on birth weight (BW), gender, number of live births, gestational age, mortality, nationality, APGAR score, length of stay in the NICU, and maternal details.
Results: A total of 9809 live births were identified between 2018 and 2022, of which 139 (3.9%) were born preterm. The overall mortality rate of the included sample was 7.19%, whereas the mortality rate according to BW was 38.4% of those born with extremely low birth weight (ELBW). The most common intrapartum complications were malpresentation (15.1%), placental complications (4.3%), and cord complications (3.6%).
Conclusion: This study provides valuable insights into the prevalence of PTB in the country, particularly focusing on the vulnerability of extremely preterm babies.
{"title":"A cross-sectional analysis of preterm birth incidence and survival in Al Kharj, Saudi Arabia.","authors":"Mshari Alghadier, Muneera Alasraj, Ragab Elnaggar, Mashael Alazmi, Asma Aldawsari, Saud Alnadah, Faisal Alqahtani, Donia Zaghamir","doi":"10.15537/smj.2024.45.7.20240194","DOIUrl":"10.15537/smj.2024.45.7.20240194","url":null,"abstract":"<p><strong>Objectives: </strong>To understand the prevalence and survival rates of preterm birth (PTB) is of utmost importance in informing healthcare planning, improving neonatal care, enhancing maternal and infant health, monitoring long-term outcomes, and guiding policy and advocacy efforts.</p><p><strong>Methods: </strong>The medical records of preterm infants admitted to the Neonatal Intensive Care Unit (NICU) with a diagnosis of prematurity at the Maternity and Children's Hospital (MCH), Al Kharj, Saudi Arabia, were reviewed between January 2018 and December 2022. Data were collected on birth weight (BW), gender, number of live births, gestational age, mortality, nationality, APGAR score, length of stay in the NICU, and maternal details.</p><p><strong>Results: </strong>A total of 9809 live births were identified between 2018 and 2022, of which 139 (3.9%) were born preterm. The overall mortality rate of the included sample was 7.19%, whereas the mortality rate according to BW was 38.4% of those born with extremely low birth weight (ELBW). The most common intrapartum complications were malpresentation (15.1%), placental complications (4.3%), and cord complications (3.6%).</p><p><strong>Conclusion: </strong>This study provides valuable insights into the prevalence of PTB in the country, particularly focusing on the vulnerability of extremely preterm babies.</p>","PeriodicalId":21453,"journal":{"name":"Saudi Medical Journal","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11237268/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141493169","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}
Pub Date : 2024-07-01DOI: 10.15537/smj.2024.45.7.20240294
Nura A Almansour, Yasmeen A AlHedyan, Nada N Alshathri, Razan S Alsubaie, Sara Y Alsuliman, Aamir A Omair, Abdullah K Alanazi, Amjad S Alserayaa
Objectives: To evaluated the home healthcare efficacy in managing tracheostomy patients at King Abdulaziz Medical City under the Ministry of National Guard Health Affairs. Home healthcare is care provided to patients in the convenience of their homes to ensure high-quality care based on healthcare providers' supervision.
Methods: This retrospective cohort study utilizing a non-probability consecutive sampling technique, including all available tracheal patients with no exclusion criteria, was carried out in Riyadh, Saudi Arabia, between January 2019 and June 2022. The collected data included patient demographic variables and respiratory settings (ventilation type, daily ventilation need, tracheostomy duration, and ventilator settings). The outcomes included mortality rate and therapeutic outcomes of tracheal management.
Results: Of the 183 patients in the study, the most common type of respiratory-related infection was pneumonia (53%). Unlike respiratory-related causes, The mortality rate of patients admitted to the intensive care unit that was unrelated to respiratory causes was statistically significant (57%) (p=0.003). The mortality rate of patients who used aerosol tracheal collars (34%) was markedly higher than mechanically ventilated patients (57%) (p=0.004). The mortality rate following discharge from HHC was 40%, and was higher among patients aged >70 years (47%) (p=0.04).
Conclusion: Pneumonia was associated with the majority of ventilator-related infections and resulted in hospital readmissions. Ensuring proper practices and caregiver education is crucial to decrease the incidence of ventilator-related infections.
{"title":"Efficacy of home healthcare on the management of tracheostomy patients.","authors":"Nura A Almansour, Yasmeen A AlHedyan, Nada N Alshathri, Razan S Alsubaie, Sara Y Alsuliman, Aamir A Omair, Abdullah K Alanazi, Amjad S Alserayaa","doi":"10.15537/smj.2024.45.7.20240294","DOIUrl":"10.15537/smj.2024.45.7.20240294","url":null,"abstract":"<p><strong>Objectives: </strong>To evaluated the home healthcare efficacy in managing tracheostomy patients at King Abdulaziz Medical City under the Ministry of National Guard Health Affairs. Home healthcare is care provided to patients in the convenience of their homes to ensure high-quality care based on healthcare providers' supervision.</p><p><strong>Methods: </strong>This retrospective cohort study utilizing a non-probability consecutive sampling technique, including all available tracheal patients with no exclusion criteria, was carried out in Riyadh, Saudi Arabia, between January 2019 and June 2022. The collected data included patient demographic variables and respiratory settings (ventilation type, daily ventilation need, tracheostomy duration, and ventilator settings). The outcomes included mortality rate and therapeutic outcomes of tracheal management.</p><p><strong>Results: </strong>Of the 183 patients in the study, the most common type of respiratory-related infection was pneumonia (53%). Unlike respiratory-related causes, The mortality rate of patients admitted to the intensive care unit that was unrelated to respiratory causes was statistically significant (57%) (<i>p</i>=0.003). The mortality rate of patients who used aerosol tracheal collars (34%) was markedly higher than mechanically ventilated patients (57%) (<i>p</i>=0.004). The mortality rate following discharge from HHC was 40%, and was higher among patients aged >70 years (47%) (<i>p</i>=0.04).</p><p><strong>Conclusion: </strong>Pneumonia was associated with the majority of ventilator-related infections and resulted in hospital readmissions. Ensuring proper practices and caregiver education is crucial to decrease the incidence of ventilator-related infections.</p>","PeriodicalId":21453,"journal":{"name":"Saudi Medical Journal","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11237278/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141493187","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":"Experts warn of serious health impacts from climate change for pregnant women, children, and older people.","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":21453,"journal":{"name":"Saudi Medical Journal","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11237281/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141493188","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}
Pub Date : 2024-07-01DOI: 10.15537/smj.2024.45.7.20240082
Sara Zaher
The validity of the traditional nutritional assessment tools in intensive care settings might be compromised when the patient has conditions such as oedema and inflammation. Ultrasound (US) is considered a non-invasive, bedside tool that can be utilized to assess changes in muscle mass. Hence, US could guide healthcare practitioners in identifying the varying degrees of malnutrition and adjusting the nutritional prescription accordingly. This review discusses the currently available data regarding the feasibility and practicality of using US measurements in intensive care settings. Overall, the data suggest that using US as part of the standard anthropometric assessment for critically ill patients is a promising tool to track variations in muscle mass. This has the potential to enhance nutritional prescription and tailor the provision of protein and energy to critically ill patients based on their lean body mass measurements. Therefore, it is recommended to train dietitians on utilizing US for body composition measurements.
在重症监护环境中,当患者出现水肿和炎症等情况时,传统营养评估工具的有效性可能会受到影响。超声波(US)被认为是一种无创床边工具,可用于评估肌肉质量的变化。因此,超声波可指导医护人员识别不同程度的营养不良,并相应地调整营养处方。本综述讨论了有关在重症监护环境中使用 US 测量的可行性和实用性的现有数据。总体而言,数据表明,将 US 作为重症患者标准人体测量评估的一部分,是跟踪肌肉质量变化的一种很有前途的工具。这有可能加强营养处方,并根据重症患者的瘦体重测量结果为其量身定制蛋白质和能量的供应。因此,建议对营养师进行利用 US 测量身体成分的培训。
{"title":"Incorporating ultrasonography to the nutritional assessment process in intensive care settings to improve the prescription of enteral and parenteral nutrition: Benefits, practicality, and challenges.","authors":"Sara Zaher","doi":"10.15537/smj.2024.45.7.20240082","DOIUrl":"10.15537/smj.2024.45.7.20240082","url":null,"abstract":"<p><p>The validity of the traditional nutritional assessment tools in intensive care settings might be compromised when the patient has conditions such as oedema and inflammation. Ultrasound (US) is considered a non-invasive, bedside tool that can be utilized to assess changes in muscle mass. Hence, US could guide healthcare practitioners in identifying the varying degrees of malnutrition and adjusting the nutritional prescription accordingly. This review discusses the currently available data regarding the feasibility and practicality of using US measurements in intensive care settings. Overall, the data suggest that using US as part of the standard anthropometric assessment for critically ill patients is a promising tool to track variations in muscle mass. This has the potential to enhance nutritional prescription and tailor the provision of protein and energy to critically ill patients based on their lean body mass measurements. Therefore, it is recommended to train dietitians on utilizing US for body composition measurements.</p>","PeriodicalId":21453,"journal":{"name":"Saudi Medical Journal","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11237283/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141493192","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}
Pub Date : 2024-07-01DOI: 10.15537/smj.2024.45.7.20240338
Ahmad A Alshehri, Ahmad Adebayo Irekeola, Mohammed Merae Alshahrani, Khaja Shameem Mohammed Abdul, Saeed Ahmed Asiri, Banan F Aboluluy, Ahmed Abdullah Al Awadh, Abdulaziz Hassan Alhasaniah, Ibrahim Abdullah Almazni, Saleh A Alshamrani, Abdullah J Alshahrani, Ahmad M Saif, Osman Ae Elnoubi, Abdulrahim R Hakami, Abdulrazzag Abdulaziz Othman, Mansor H Almohi
Objectives: To ascertain the prevalence of transfusion transmissible infections (TTIs) across diverse donor groups in the Najran province. Additionally, to establish a potential association between the development of TTI and the donors' blood group, as determined by the ABO/Rh blood grouping system.
Methods: Blood donation data of 4120 donors, spanning from January to December 2020, were retrospectively reviewed. The blood were screened for TTI markers, including hepatitis B surface antigen (HBsAg), anti-hepatitis B core (anti-HBc), anti-hepatitis C virus (anti-HCV), anti-human immunodeficiency viruses 1 and 2 (anti-HIV1&2), anti-human T-lymphotropic virus types 1 and 2 (anti-HTLV-1&2), and syphilis antigen.
Results: Positive TTI markers were detected in 10.9% of the donors. The most detected TTI marker was anti-HBc (8.9%), followed by HBsAg (0.7%). Other markers were individually detected in <1% of the donors. Anti-HBc-positive was significantly elevated among non-Saudi blood donors. There was an association between age groups and anti-HCV (p=0.002), anti-HTLV (p=0.004) and syphilis antigen (p=0.02) markers positivity. The AB positive blood group exhibited the most positivity for TTI markers, followed by O positive blood group. Similarly, association was found between ABO group and HBsAg (p=0.01), anti-HBc (p=0.001), and anti-HCV (p<0.001) markers positivity.
Conclusion: Emphasis on implementing robust screening measures for donated blood is underscored by this study. There is the need for future study to extensively evaluate TTI status to enhance our understanding of the trend in TTI.
{"title":"Serological markers of transfusion transmissible infections and ABO blood groups in Najran, Saudi Arabia.","authors":"Ahmad A Alshehri, Ahmad Adebayo Irekeola, Mohammed Merae Alshahrani, Khaja Shameem Mohammed Abdul, Saeed Ahmed Asiri, Banan F Aboluluy, Ahmed Abdullah Al Awadh, Abdulaziz Hassan Alhasaniah, Ibrahim Abdullah Almazni, Saleh A Alshamrani, Abdullah J Alshahrani, Ahmad M Saif, Osman Ae Elnoubi, Abdulrahim R Hakami, Abdulrazzag Abdulaziz Othman, Mansor H Almohi","doi":"10.15537/smj.2024.45.7.20240338","DOIUrl":"10.15537/smj.2024.45.7.20240338","url":null,"abstract":"<p><strong>Objectives: </strong>To ascertain the prevalence of transfusion transmissible infections (TTIs) across diverse donor groups in the Najran province. Additionally, to establish a potential association between the development of TTI and the donors' blood group, as determined by the ABO/Rh blood grouping system.</p><p><strong>Methods: </strong>Blood donation data of 4120 donors, spanning from January to December 2020, were retrospectively reviewed. The blood were screened for TTI markers, including hepatitis B surface antigen (HBsAg), anti-hepatitis B core (anti-HBc), anti-hepatitis C virus (anti-HCV), anti-human immunodeficiency viruses 1 and 2 (anti-HIV1&2), anti-human T-lymphotropic virus types 1 and 2 (anti-HTLV-1&2), and syphilis antigen.</p><p><strong>Results: </strong>Positive TTI markers were detected in 10.9% of the donors. The most detected TTI marker was anti-HBc (8.9%), followed by HBsAg (0.7%). Other markers were individually detected in <1% of the donors. Anti-HBc-positive was significantly elevated among non-Saudi blood donors. There was an association between age groups and anti-HCV (<i>p</i>=0.002), anti-HTLV (<i>p</i>=0.004) and syphilis antigen (<i>p</i>=0.02) markers positivity. The AB positive blood group exhibited the most positivity for TTI markers, followed by O positive blood group. Similarly, association was found between ABO group and HBsAg (<i>p</i>=0.01), anti-HBc (<i>p</i>=0.001), and anti-HCV (<i>p</i><0.001) markers positivity.</p><p><strong>Conclusion: </strong>Emphasis on implementing robust screening measures for donated blood is underscored by this study. There is the need for future study to extensively evaluate TTI status to enhance our understanding of the trend in TTI.</p>","PeriodicalId":21453,"journal":{"name":"Saudi Medical Journal","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11237274/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141493196","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}
Pub Date : 2024-07-01DOI: 10.15537/smj.2024.45.7.20240201
Ayşe Soylu, Medet Korkmaz
Objectives: To determine the effect of elevated supine position with back support on back pain, anxiety and comfort in patients undergoing coronary angiography.
Methods: This randomized-controlled, experimental study was conducted in the Coronary Intensive Care Unit between September 2021 and January 2022, with an intervention group of 51 patients and a control group of 53 patients. Data were collected using a patient information form, a visual analog scale, the anxiety state inventory and the immobilization comfort questionnaire. Following angiography, the intervention group received pillow support to the back and the bedhead was elevated to 30 degrees. Routine nursing care was applied to the control group. In both groups, the severity of back pain was measured at 0, 2, and 4 hours, and anxiety and comfort at 0 and 4 hours.
Results: The pain severity at 2 and 4 hours after the procedure was determined to be significantly lower in the intervention group than in the control group (p<0.001, p<0.001). At 4 hours, the anxiety levels were similar in both groups (p<0.05), and the comfort level was higher in the intervention group (p<0.001). The mean pain value was 6.003 points lower and the comfort level was 20.499 points higher in the intervention group than in the control group.
Conclusion: The elevated supine position with back support was seen to reduce back pain, increase comfort, and did not change anxiety levels.Clinical Trials No: NCT05546216.
{"title":"The effect on back pain, anxiety, and comfort levels of an elevated supine position and back support applied to patients undergoing coronary angiography: A randomized controlled experimental study.","authors":"Ayşe Soylu, Medet Korkmaz","doi":"10.15537/smj.2024.45.7.20240201","DOIUrl":"10.15537/smj.2024.45.7.20240201","url":null,"abstract":"<p><strong>Objectives: </strong>To determine the effect of elevated supine position with back support on back pain, anxiety and comfort in patients undergoing coronary angiography.</p><p><strong>Methods: </strong>This randomized-controlled, experimental study was conducted in the Coronary Intensive Care Unit between September 2021 and January 2022, with an intervention group of 51 patients and a control group of 53 patients. Data were collected using a patient information form, a visual analog scale, the anxiety state inventory and the immobilization comfort questionnaire. Following angiography, the intervention group received pillow support to the back and the bedhead was elevated to 30 degrees. Routine nursing care was applied to the control group. In both groups, the severity of back pain was measured at 0, 2, and 4 hours, and anxiety and comfort at 0 and 4 hours.</p><p><strong>Results: </strong>The pain severity at 2 and 4 hours after the procedure was determined to be significantly lower in the intervention group than in the control group (<i>p</i><0.001, <i>p</i><0.001). At 4 hours, the anxiety levels were similar in both groups (<i>p</i><0.05), and the comfort level was higher in the intervention group (<i>p</i><0.001). The mean pain value was 6.003 points lower and the comfort level was 20.499 points higher in the intervention group than in the control group.</p><p><strong>Conclusion: </strong>The elevated supine position with back support was seen to reduce back pain, increase comfort, and did not change anxiety levels.<b>Clinical Trials No: NCT05546216</b>.</p>","PeriodicalId":21453,"journal":{"name":"Saudi Medical Journal","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11237279/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141493221","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":"How does a diabetes drug lessen symptoms of depression?","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":21453,"journal":{"name":"Saudi Medical Journal","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11237273/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141493190","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}
Pub Date : 2024-07-01DOI: 10.15537/smj.2024.45.7.20230325
Saleem AlBalawy, Syed Shafqat Ul Islam, Noura Tasbahji
L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare disorder. The patients have psychomotor retardation, ataxia, macrocephaly, and epilepsy usually in childhood. We present a case of L-2-HGA who developed dystonia in the third decade of life. The family reported symptoms of progressive psychomotor regression since childhood. On assessment, the patient had mild impairment of higher mental functions, mild exotropia, and right-hand dystonia. Brain MRI revealed diffuse bilateral symmetrical subcortical white matter hyperintense signals. 2-hydroxyglutaric acid in urine was elevated and the whole genome sequencing revealed a homogeneous pathogenic variant of the L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene. The prognosis was explained to the caregivers. Patients with mild phenotype L-2-HGA can remain undiagnosed until adulthood. Cases of dystonia even without complaints of epilepsy should be investigated by MRI -brain, urine test and genetic testing to rule out L-2-HGA.
{"title":"Focal dystonia in an adult with L-2- hydroxyglutaric aciduria.","authors":"Saleem AlBalawy, Syed Shafqat Ul Islam, Noura Tasbahji","doi":"10.15537/smj.2024.45.7.20230325","DOIUrl":"10.15537/smj.2024.45.7.20230325","url":null,"abstract":"<p><p>L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare disorder. The patients have psychomotor retardation, ataxia, macrocephaly, and epilepsy usually in childhood. We present a case of L-2-HGA who developed dystonia in the third decade of life. The family reported symptoms of progressive psychomotor regression since childhood. On assessment, the patient had mild impairment of higher mental functions, mild exotropia, and right-hand dystonia. Brain MRI revealed diffuse bilateral symmetrical subcortical white matter hyperintense signals. 2-hydroxyglutaric acid in urine was elevated and the whole genome sequencing revealed a homogeneous pathogenic variant of the L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene. The prognosis was explained to the caregivers. Patients with mild phenotype L-2-HGA can remain undiagnosed until adulthood. Cases of dystonia even without complaints of epilepsy should be investigated by MRI -brain, urine test and genetic testing to rule out L-2-HGA.</p>","PeriodicalId":21453,"journal":{"name":"Saudi Medical Journal","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11237271/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141493189","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":"Could a novel liver patch help treat and prevent liver disease?","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":21453,"journal":{"name":"Saudi Medical Journal","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11237270/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141493184","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}