Annals of Saudi Medicine最新文献

{"title":"Prognosis of gastric adenocarcinoma associated with girdin, Akt, and cortactin.","authors":"Yue Zhang,&nbsp;Cheyan Liu,&nbsp;Lei Zhou","doi":"10.5144/0256-4947.2022.181","DOIUrl":"https://doi.org/10.5144/0256-4947.2022.181","url":null,"abstract":"<p><strong>Background: </strong>The actin-binding protein girdin regulates tumor cell migration and invasion by maintaining actin structure. PI3K/Akt signaling is an important actin-remodeling pathway. The protein cortactin acts directly on microfilaments and promotes tumor invasion and metastasis by rearranging the cytoskeleton. However, there are few reports on the co-expression of girdin, Akt, and cortactin in gastric adenocarcinoma (GAC).</p><p><strong>Objectives: </strong>Evaluate girdin, Akt, and cortactin expression in GAC tissues and assess their relationship to the prognosis of GAC patients.</p><p><strong>Design: </strong>Survival analysis SETTING: Medical college in China PATIENTS AND METHODS: We compared survival in 110 paraffin-preserved GAC with corresponding normal gastric mucosa tissues in relationship to girdin, Akt, and cortactin expression levels.</p><p><strong>Main outcome measure: </strong>Expression levels of the proteins.</p><p><strong>Sample size: </strong>110 RESULTS: The expression of girdin, Akt, and cortactin were all upregulated in GAC tissues compared with corresponding normal tissues (66.4% vs 36.3%, 57.3% vs 28.2% and 69.1% vs 22.7%, respectively; <i>P</i><.05) and expression was mutually positive (all <i>P</i><.05). Overall survival in the girdin, Akt, and cortactin high expression groups was reduced. Multivariate analysis showed that girdin, Akt, cortactin, lymph node metastasis (LNM) and TNM stages were independent factors affecting GAC patients prognosis (<i>P</i><.05).</p><p><strong>Conclusions: </strong>Girdin and cortactin may promote GAC invasion and metastasis via the PI3-K/Akt signaling pathway. Girdin, Akt, and cortactin co-expression might serve as a novel molecular target for GAC therapy and improve the prognosis of patients with this disease.</p><p><strong>Limitations: </strong>A small sample size and lack of related research on molecular mechanisms.</p><p><strong>Conflict of interest: </strong>None.</p>","PeriodicalId":8016,"journal":{"name":"Annals of Saudi Medicine","volume":" ","pages":"181-190"},"PeriodicalIF":1.6,"publicationDate":"2022-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/19/4a/0256-4947.2022.181.PMC9167460.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40410616","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":"Characteristics of mechanically ventilated COVID-19 patients in the Al-Ahsa Region of Saudi Arabia: a retrospective study with survival analysis","authors":"A. Alamer, S. M. Asdaq, M. Alyamani, Hussain Alghadeer, Zahra H Alnasser, Zainab G. Aljassim, Maryam Albattat, A. Alhajji, Ahmed A. Alrashed, Y. Mozari, Abrar Aledrees, Badr Almuhainy, Ivo Abraham, Ahmad A Alamer","doi":"10.5144/0256-4947.2022.165","DOIUrl":"https://doi.org/10.5144/0256-4947.2022.165","url":null,"abstract":"BACKGROUND: About 5-10% of coronavirus disease 2019 (COVID-19) infected patients require critical care hospitalization and a variety of respiratory support, including invasive mechanical ventilation. Several nationwide studies from Saudi Arabia have identified common comorbidities but none were focused on mechanically ventilated patients in the Al-Ahsa region of Saudi Arabia. OBJECTIVES: Identify characteristics and risk factors for mortality in mechanically ventilated COVID-19 patients. DESIGN: Retrospective chart review SETTING: Two general hospitals in the Al-Ahsa region of Saudi Arabia PATIENTS AND METHODS: We included mechanically ventilated COVID-19 patients (>18 years old) admitted between 1 May and 30 November 2020, in two major general hospitals in the Al-Ahsa region, Saudi Arabia. Descriptive statistics were used to characterize patients. A multivariable Cox proportional hazards (CPH) model was used exploratively to identify hazard ratios (HR) of predictors of mortality. MAIN OUTCOME MEASURES: Patient characteristics, mortality rate, extubation rate, the need for re-intubation and clinical complications during hospitalization. SAMPLE SIZE AND CHARACTERISTICS: 154 mechanically ventilated COVID-19 patients with median (interquartile range) age of 60 (22) years; 65.6% male. RESULTS: Common comorbidities were diabetes (72.2%), hypertension (67%), cardiovascular disease (14.9%) and chronic kidney disease (CKD) (14.3%). In the multivariable CPH model, age >60 years old (HR=1.83, 95% CI 1.2-2.7, P=.002), CKD (1.61, 95% CI 0.9-2.6, P=.062), insulin use (HR=0.65, 95% CI 0.35-.08, P<.001), and use of loop diuretics (HR=0.51, 95% CI 0.4, P=.037) were major predictors of mortality. CONCLUSION: Common diseases in mechanically ventilated COVID-19 patients from the Al-Ahsa region were diabetes, hypertension, other cardiovascular diseases, and CKD in this exploratory analysis. LIMITATIONS: Retrospective, weak CPH model performance. CONFLICTS OF INTEREST: None.","PeriodicalId":8016,"journal":{"name":"Annals of Saudi Medicine","volume":"42 1","pages":"165 - 173"},"PeriodicalIF":1.6,"publicationDate":"2022-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42071235","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":"Sinovac vaccination and the course of COVID-19 disease in hospitalized patients in Turkey.","authors":"Leman Acun Delen, Mesut Örtekus","doi":"10.5144/0256-4947.2022.147","DOIUrl":"10.5144/0256-4947.2022.147","url":null,"abstract":"<p><strong>Background: </strong>The Alpha variant of SARS-CoV-2 has a higher transmission rate than the first variant identified. The efficacy of vaccines is affected by the characteristics of SARS-CoV-2 variants.</p><p><strong>Objective: </strong>Investigate the relationship of vaccination and virus variant on the course of the disease in patients who were hospitalized with a diagnosis of COVID-19.</p><p><strong>Design: </strong>Retrospective, cohort study SETTING: Tertiary health institution PATIENTS AND METHODS: The study included patients older than the age of 18 years who were hospitalized in a COVID-19 service or the intensive care unit with a diagnosis of COVID-19 between 1 January 2021 and 30 April 2021. Demographic characteristics, vaccination and the Alpha virus variant status, comorbidities, and information about hospitalization were obtained from the hospital automation system and patient files.</p><p><strong>Main outcome measures: </strong>Vaccination rate and relationship with course of disease.</p><p><strong>Sample size: </strong>608 RESULTS: Most of the patients (n=482, 79.3%) were admitted to the COVID-19 service. More of the COVID-19 service patients had the Alpha variant than the patients admitted to ICU (<i>P</i><.009). The Alpha variant was also more common in younger patients (<i>P</i><.001). There was no relationship between the Alpha virus and comorbid diseases such as diabetes mellitus and hypertension. Mortality was lower in the patients who had received a second dose of the Sinovac vaccine (<i>P</i>=.004) compared with unvaccinated patients.</p><p><strong>Conclusion: </strong>Although the Alpha variant spreads faster, it has a milder course. If only the Sinovac vaccine is available, we recommend that the two doses of the Sinovac vaccine be administered.</p><p><strong>Limitations: </strong>Our study is single-center and did not include pregnant and pediatric patients.</p><p><strong>Conflict of interest: </strong>None.</p>","PeriodicalId":8016,"journal":{"name":"Annals of Saudi Medicine","volume":"42 1","pages":"147-154"},"PeriodicalIF":1.5,"publicationDate":"2022-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9167459/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45224623","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":"Radiation exposure in pregnancy: outcomes, perceptions and teratological counseling in Turkish women","authors":"M. Seven, A. Yiğin, Deniz Ağırbaşlı, M. Alay, Faruk Kirbiyik, M. Demir","doi":"10.5144/0256-4947.2022.03.03.1200","DOIUrl":"https://doi.org/10.5144/0256-4947.2022.03.03.1200","url":null,"abstract":"BACKGROUND: Fetal effects of radiation are associated with the gestational week of exposure, dose, and duration of exposure, but the perception of risk of radiation in expecting mothers is greater than the actual risk of physical effects. OBJECTIVES: Evaluate the overestimation of the teratogenic risk in women exposed to radiation and the role of teratological counseling in minimizing preconceptions. DESIGN: Analytical, cross-sectional. SETTING: Tertiary care center, genetic diseases diagnosis center. PATIENTS AND METHODS: Out of 10 784 people who applied for teratological consultation between 2009 and 2018, pregnant women meeting inclusion criteria and exposed to radiation were selected as the study group; pregnant women without radiation exposure were selected as the control group. Two subgroups of the study group based on the week and dose of exposure were also analyzed. MAIN OUTCOME MEASURES: Abortion rate, termination recommendation rates before and after teratological counseling. SAMPLE SIZE:: 461 pregnant exposed to radiation; 213 pregnant women without radiation exposure. RESULTS: Preterm birth and termination rates differed significantly between cases and controls (P=.038, P=.019, respectively). Termination recommendation at the first examination was more frequent for both the week of exposure overall and dose subgroups comparing cases and controls (P<.001). In the comparison of subgroups by week of exposure, only the miscarriage rate was statistically significant (P=.007). After teratological counseling termination decision rates were significantly decreased (P<.001). CONCLUSION: Subjective perceptions about the risks of radiation may lead to the termination of an otherwise wanted pregnancy. Teratological counseling is crucial for the prevention of termination of pregnancy, clarifying misinformation, and minimizing anxiety. LIMITATIONS: With the exception of measurable values as calculated doses of radiation, the conclusions are mostly derived from medical records and subjective responses of pregnant women. The termination rates in our study probably do not reflect the whole population. CONFLICT OF INTEREST: None.","PeriodicalId":8016,"journal":{"name":"Annals of Saudi Medicine","volume":"42 1","pages":"214 - 221"},"PeriodicalIF":1.6,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44434036","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":"Hepatic fibrosis changes in patients with chronic hepatitis C infection who respond to direct-acting antivirals","authors":"K. Alswat, Fahad Al-Sohaibani, A. Khathlan, Ahmad Bashmail, M. Alanazi, A. Kurdi, Abdul Hakim Almakadma, W. Al-Hamoudi","doi":"10.5144/0256-4947.2022.89","DOIUrl":"https://doi.org/10.5144/0256-4947.2022.89","url":null,"abstract":"BACKGROUND: Clearance of hepatitis C virus (HCV) can potentially slow or reverse liver fibrosis and cirrhosis. Studies of fibrosis changes after treatment with direct-acting antivirals (DAAs) are limited. OBJECTIVES: We aimed to assess the impact of DAAs on fibrosis in HCV treatment responders. DESIGN: Retrospective cohort study. SETTING: Tertiary care centers. PATIENTS AND METHODS: This study included adult patients who received DAA treatment for HCV (naïve and experienced) from June 2015 to January 2019 who were treatment responders. Biochemical and hematological data and noninvasive fibrosis markers were recorded at baseline and follow-up. MAIN OUTCOME MEASURES: Aspartate aminotransferase/platelet ratio index (APRI), fibrosis-4 score (FIB-4) and liver stiffness measurements (LSM) at baseline and follow-up. SAMPLE SIZE AND CHARACTERISTICS: 172 HCV treatment responders, mean (SD) age 54.1 (14.1) and body mass index 28.8 (6.5) kg/m2 at baseline; 96 (55.8%) were females. RESULTS: Fifty-eight (33.7%) patients were HCV treatment-experienced. Most patients were genotype 4 (n=125, 73%) and the mean follow-up was 141 (57.9) weeks. Compared with baseline, changes in alanine aminotransferase (P<.001), aspartate aminotransferase (P<.001), and albumin (P=.01) were statistically significant. Changes in LSM (15.09 kPa [11.4] vs. 10.19 kPa [7.4], P<.001), APRI (0.81 [0.7] vs. 0.34 [0.2], P<.001), and FIB-4 (1.99 [1.4) vs.1.35 [0.9], P<.001), and AST/ALT ratio (0.86 [0.32] vs. 0.95 [0.41], P=.015) were statistically significant. Differences in many of the same parameters were statistically significant between patients with low fibrosis (F0-F1) (n=59, 34.3%) and significant fibrosis (≥F2) (n=113, 65.7%). CONCLUSIONS: Our findings confirm that clearance of HCV with DAAs is associated with significant improvement in fibrosis as assessed by noninvasive liver fibrosis measures, which supports the concept of post-treatment fibrosis regression. Long follow-up studies are needed to assess the impact on morbidity and mortality. LIMITATIONS: Absence of histological correlation with these noninvasive scores. No assessment of fibrosis changes based on HCV geno-type or treatment regimen. CONFLICT OF INTEREST: None.","PeriodicalId":8016,"journal":{"name":"Annals of Saudi Medicine","volume":"42 1","pages":"89 - 95"},"PeriodicalIF":1.6,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42519735","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":"Comment on: Kuwait National Mammography Screening Program: outcomes of 5 years of screening in Kuwaiti women","authors":"F. Kashoo, Mehrunnisha Ahmad, M. Sidiq, H. Alkhawari","doi":"10.5144/0256-4947.2022.145","DOIUrl":"https://doi.org/10.5144/0256-4947.2022.145","url":null,"abstract":"We read the research published in your journal titled “Kuwait National Mammography Screening Program: outcomes of 5 years of screening in Kuwaiti women” on 7 October 2021.1 We would like to commend the authors on such an elaborate and plausible article. The article provides a great deal of information on the prevalence of breast cancer among women in Kuwait despite poor participation. The study was a population-based screening study carried out from 2014-2019 among 14 773 asymptomatic women for possible breast cancer. The study identified 551 women with lesions by a full-field digital mammography system. The article indeed adds value to the early detection of breast cancer in women in Kuwait. However, collecting more information about risk factors from women (n=551) diagnosed with breast lesions would further improve the understanding of contributing risk factors and designing targeted breast cancer screening programs. Although, the authors mentioned that the screening was done for a specific age group (40-69 years old). The known risk factors that can uniquely contribute to the occurrence of breast cancer are obesity,2 age of menarche,3 late age of menopause,3 pre-existing metabolic disorders,4 smoking habit,5 dietary habits,6 blood group,7 level of physical activity,6 consumption of caffeine, vitamin D deficiency, duration of sleep, air population,8 night work, diabetes,7 and radiation exposure.7 Information collected based on the above mentioned risk factors would greatly add to the understanding of the unique contribution of these risk factors to the occurrence of breast cancer. Moreover, the statement in the result section of the abstract of the manuscript states that the percentage of women with breast cancer between the 40-49 year age group was 23.1%.","PeriodicalId":8016,"journal":{"name":"Annals of Saudi Medicine","volume":"42 1","pages":"145 - 145"},"PeriodicalIF":1.6,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42068143","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":"Intracoronary epinephrine versus adenosine in the management of refractory no-reflow phenomenon: a single-center retrospective cohort study","authors":"Ahmed Darwish, A. Frere, M. Abdelsamie, Waleed El Awady, M. Gouda","doi":"10.5144/0256-4947.2022.75","DOIUrl":"https://doi.org/10.5144/0256-4947.2022.75","url":null,"abstract":"BACKGROUND: The no-reflow phenomenon is associated with a considerable reduction in myocardial salvage in patients with ST elevation myocardial infarction (STEMI) treated by primary percutaneous intervention (PCI). There has been no head-to-head comparison of intra-coronary epinephrine to adenosine in the management of no-reflow phenomenon. OBJECTIVES: Evaluate the short- and long-term efficacy and safety of using intracoronary epinephrine versus adenosine for management of the catastrophic no-reflow phenomenon that may occur during primary PCI. DESIGN: Retrospective cohort. SETTING: Single center in Egypt. PATIENTS AND METHODS: The study included STEMI patients who developed refractory no-reflow phenomenon during primary PCI after failure of conventional treatments and received either intracoronary epinephrine or adenosine. MAIN OUTCOME MEASURES: No-reflow management measured through improvement of thrombolysis in myocardial infarction grade (TIMI flow), myocardial blush grade, TIMI frame count and major adverse cardiovascular events (MACE) at 1-year follow up. SAMPLE SIZE: 156 patients with refractory no-reflow phenomenon during primary PCI. RESULTS: Successful reperfusion was achieved in 74 of 81 (91.4%) of patients who received epinephrine and in 65 of 75 (86.7%) who received adenosine (P<.05). Fifty-six of 81 patients (69.1%) achieved TIMI III flow after epinephrine administration versus 39 of 75 patients (52.7%) in the adenosine group (P=.04). The incidence of heart failure after 1 year of follow up was lower in the epinephrine group compared to the adenosine group (6.3% vs. 19.2%, P<.017). MACE after 1 year of follow up was lower in patients who received epinephrine compared to those who received adenosine (11.3 % Vs. 26.7 %, P<.01). CONCLUSION: During primary PCI, intracoronary epinephrine is as effective as adenosine in successful management of refractory no-reflow phenomenon with a more favorable long-term prognosis compared to adenosine. LIMITATIONS: Retrospective design. CONFLICT OF INTEREST: None.","PeriodicalId":8016,"journal":{"name":"Annals of Saudi Medicine","volume":"42 1","pages":"75 - 82"},"PeriodicalIF":1.6,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44750235","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":"Seroprevalence of SARS-Cov-2 IgG antibodies in patients at a single center in Saudi Arabia","authors":"Waleed H. Mahallawi, Mohammad A Alsarani, Rami H Aljohani, Abdulrahman A Alluhaibi, Turki H Alamri, Nadir A. Ibrahim, Khalid H Mahallawi, Omar F. Khabourd","doi":"10.5144/0256-4947.2022.69","DOIUrl":"https://doi.org/10.5144/0256-4947.2022.69","url":null,"abstract":"BACKGROUND: The coronavirus disease 2019 (COVID-19) pandemic has had a massive impact on public health as well as the economy. Understanding the seroprevalence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection among undiagnosed individuals is important for developing an informed pandemic response. OBJECTIVE: Investigate the prevalence of undiagnosed COVID-19 disease. DESIGN: Cross-sectional. SETTING: Tertiary care center in Madinah, Saudi Arabia. SUBJECTS AND METHODS: All participants were on follow-up visits to various clinics and had not been previously diagnosed with COVID-19. Enzyme-linked immunosorbent assay was used to specifically assess the anti-spike IgG antibody seropositivity in serum samples. We associated the seropositivity rates of the participants with age, body mass index (BMI), nationality, blood groups, and sex with uni- and multivariate analyses. MAIN OUTCOME MEASURES: Seropositivity for IgG anti-spike antibodies against SARS-CoV-2. SAMPLE SIZE AND CHARACTERISTICS: 527 subjects, with a median (interquartile percentiles) age of the 527 subjects was 34 (24–41). RESULTS: Of the 527 samples, about one-fourth (n=124, 23.5%) were positive for anti-spike IgG antibody against SARS CoV-2. Age was associated with anti-spike IgG antibody positivity (P<.002). Participants >30 years were more likely to be seropositive (28-29%) than younger participants (15.4%). Additionally, seropositivity was associated with female gender (P<.001) and a higher BMI (P<.006). In the multivariate logistic regression, age >30, female gender and BMI >40 were associated with seropositivity. CONCLUSION: The percentage of seropositive individuals reflects the high level of undiagnosed COVID-19 patients among the population. Our results will help in a better evaluation of the public health measures applied during the COVID-19 pandemic and any future public health crises. LIMITATIONS: Sample size was small, single-center study and no rural areas were included. CONFLICT OF INTEREST: None.","PeriodicalId":8016,"journal":{"name":"Annals of Saudi Medicine","volume":"42 1","pages":"69 - 74"},"PeriodicalIF":1.6,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45462643","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":"Renal lymphangiectasia in pediatric population: case series and review of literature","authors":"S. Alshanafey, Abdullah Alkhani, Abdulaziz Alkibsib","doi":"10.5144/0256-4947.2022.139","DOIUrl":"https://doi.org/10.5144/0256-4947.2022.139","url":null,"abstract":"Renal lymphangiectasia is a rare disorder where perirenal, parapelvic, and/or intra-renal lymphatics are dilated. The clinical presentation of renal lymphangiectasia can range from asymptomatic to renal failure. Ultrasound, computed tomography and magnetic resonance imaging have been used for the diagnosis. Management of such cases varies from conservative to nephrectomy. We report three cases of pediatric renal lymphangiectasia that were managed by recurrent sclerothera-pies and medical supportive treatment at our institution. A literature review is also presented. To the best of our knowledge, there are 83 reported cases in the literature, 60 adults and 23 pediatrics.","PeriodicalId":8016,"journal":{"name":"Annals of Saudi Medicine","volume":"42 1","pages":"139 - 144"},"PeriodicalIF":1.6,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42320876","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":"Cut-off values in newborn screening for inborn errors of metabolism in Saudi Arabia","authors":"Adbul Rafiq Khan, A. Alothaim, A. Alfares, Adil Jowed, Souad Marwan Al Enazi, S. A. Ghamdi, Ahmed Al Seneid, Areej Algahtani, Saleh Al Zahrani, M. Alfadhel, O. Aldibasi, Lamya A. Alomair, Rafah Bajudah, Abeer Nawaf Alanazie","doi":"10.5144/0256-4947.2022.107","DOIUrl":"https://doi.org/10.5144/0256-4947.2022.107","url":null,"abstract":"BACKGROUND: Newborn screening identifies individuals affected by a specific disorder within an apparently healthy population prior to the appearance of symptoms so that appropriate interventions can be initiated in time to minimize the harmful effects. Data on population based cut-off values, disease ranges for true positive cases, false positive rates, true positive rates, cut-off verification and comparisons with international cut-off ranges have not been done for Saudi Arabia. OBJECTIVE: Establish population-based cut-off values and analyte ratios for newborn screening assays and clinically validate the values. DESIGN: Population-based screening. SETTING: Tertiary care hospitals and laboratories. METHODS: After method verification, initial cut-off values were established by analyzing 400-500 dry blood spot (DBS) samples which were further evaluated after one year. About 74 000 patient results were reviewed to establish cut-off ranges from DBS samples received from five different hospitals during 2013-2020. Analysis was performed by tandem mass spectrometry (TMS) and a genetic screening processor. Confirmation of initial positive newborn screening results for different analytes were carried out using gas chromatography-mass spectrometry, high performance liquid chromatography and TMS. MAIN OUTCOME MEASURES: Cut-off values, ratios, positive predictive values, false positive rate, true positive rate and disease range. SAMPLE SIZE: 74 000 samples. RESULTS: Population based cut-off values were calculated at different percentiles. These values were compared with 156 true positive samples and 80 proficiency samples. The false positive rate was less than 0.04 for all the analytes, except for valine, leucine, isovalerylcarnitine (C5), biotinidase (BTD), 17-hydroxyprogesterone and thyroid stimulating hormone. The highest false positive rate was 0.14 for BTD which was due to pre-analytical errors. The analytical positive predictive values were greater than 80% throughout the eight years. CONCLUSION: We have established clinical disease ranges for most of the analytes tested in our lab and several ratios which gives excellent screening specificity and sensitivity for early detection. The samples were representative of the local populations. LIMITATIONS: Need for wider, population-based studies. CONFLICT OF INTEREST: None.","PeriodicalId":8016,"journal":{"name":"Annals of Saudi Medicine","volume":"42 1","pages":"107 - 118"},"PeriodicalIF":1.6,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46191340","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}