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Sigma metrics in an invaluable and inexpensive tool used in laboratories to monitor analytical quality of the assays. Alinity ci platform is a relatively recent analytical system launched by Abbott Diagnostics, and as such performance studies on it are few. We have calculated sigma metrics of 39 clinical chemistry and immunoassay analytes on two Alinity ci systems.

La métrica Sigma es una forma útil y económica de verificar la calidad de las pruebas en los laboratorios clínicos. Alinity ci es un analizador (Abbott Diagnostics) lanzado recientemente, cuyo rendimiento aún no ha sido suficientemente estudiado. Calculamos el valor Sigma de 39 magnitudes químicas y de inmunoensayo de dos sistemas Alinity ci.

Objective: To evaluate the frequency and association of hyperhomocysteinaemia (HHcy) in different stages of chronic kidney disease (CKD) patients., Study Design: Cross-sectional, descriptive study. Place and Duration of the Study: Department of Chemical Pathology, Indus Hospital and Health Network Karachi, Pakistan, from July to December 2022., Methodology: Blood samples of 100 known CKD patients were collected for this study. The estimated glomerular filtration rate (eGFR) was calculated from the CKD-EPI calculator for CKD staging. Plasma homocysteine (Hcy) and serum creatinine concentrations were analysed on Abbott Alinity I and C analyzers, respectively. The SPSS was used for data compilation and analysis. Descriptive statistics were calculated. The association of HHcy with CKD and other variables was assessed using the Chi-square test as appropriate. A p-value of ≤0.05 was considered as significant., Results: Out of total 100, 52% males and 48% females known CKD patients were included in the study. The mean age of the patients was 50.62 ± 16.29 years. The median eGFR, serum creatinine, and Homocysteine were 18 ml/min/1.73m2, 3.48mg/dl, and 20.07 μmol/l, respectively. The percentage of CKD patients in each stage was 7% in stage 3a, 18% in stage 3b, 30% in stage 4, and 45% in stage 5. HHcy was observed in 79% of the CKD patients and among them 7.6% patients were in stage 3a, 19.0% in stage 3b, 31.6% in stage 4, and 41.8 % in stage 5., Conclusion: Patients with CKD were found to have HHcy indicating a very high level of prevalence in CKD patients, especially in the late stages. Hence, Hcy can be considered as a predictor of advancing disease. Timely interventions are required to prevent future adverse outcomes and improve the quality of life in CKD patients. However, a significant association was not seen between Hcy concentration and eGFR stages in the current study., Key Words: Hyperhomocysteinaemia, Estimated glomerular filtration rate, CKD-EPI calculator, Mortality, End-stage renal disease, Cardiovascular disease.

Objective: To evaluate the NEXUS Chest CT ALL decision instrument (DI) in reducing unnecessary chest CT imaging in minor blunt trauma patients while preserving high sensitivity for detecting clinically meaningful injuries. Additionally, we examined the impact of delayed presentation, chronic disease, and anticoagulation/anti-aggregation medications on trauma outcomes., Methods: This retrospective study included 853 adult minor blunt trauma patients who underwent chest CT in the emergency department (ED) of Tel-Aviv Sourasky Medical Center between 2018 and 2022. Clinically meaningful outcomes were defined as trauma-related interventions or hospital admissions. The NEXUS Chest CT DI criteria, along with three additional criteria, were analyzed using logistic regression to identify independent predictors for the primary outcome. These predictors formed a modified DI, and its performance was compared to the original NEXUS DI., Results: Among 853 patients (median age 44.5 years, 64.2% male), 230 (27.0%) had trauma-related chest CT findings, and 64 (7.5%) experienced clinically meaningful outcomes. Independent predictors included abnormal chest X-ray (aOR 6.5, p < 0.001), chronic disease (aOR 5.2, p < 0.001), sternal tenderness (aOR 4.7, p = 0.007), rapid deceleration (aOR 3.7, p < 0.001), and chest wall tenderness (aOR 3.1, p < 0.001). The NEXUS DI achieved 92.1% sensitivity, reducing imaging by 41.3%, while the modified DI increased sensitivity to 98.4% with a 34.3% imaging reduction., Conclusions: The NEXUS Chest CT ALL DI significantly reduces unnecessary imaging while maintaining high diagnostic precision. A modified version enhances sensitivity, refining decision-making in emergency care. Integrating such decision tools, particularly in cases of minor trauma, is highly recommended to optimize resource use and improve patient outcomes., Competing Interests: Declarations. Conflict of interest: The authors declared that they have no conflict of interest. Ethical approval: This retrospective anonymized study was approved by the Tel Aviv Sourasky Medical Center’s institutional research board (0733-22-TLV), which waived the requirement for informed consent., (© 2025. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany.)

Competing Interests: Competing interests: None declared.

Dengue fever is a vector-borne, acute, febrile, and self-limiting systemic viral infection that affects tropical and subtropical regions, including Pakistan. Karachi has a significant burden of Aedes aegypti and Aedes albopictus due to suitable breeding sites, weather, and rapid and unplanned urbanization of squatter areas. The country has limited surveillance studies on circulating serotypes of the dengue virus and the patient's clinical features evolving over temporal changes. This study aimed to bridge the gap by screening 1500 patients using immunochromatographic detection and clinically following up on 486 of them. RNA extraction and cDNA synthesis of positive patients were performed, followed by PCR and sequencing. Data analysis and graphs were done on Prism 8.0. Males (53.87%) had a higher infection rate than females (46.13), with ages 18-60 years having the highest infection rate (69.14%). Results showed that 57.8% of patients were positive for NS1, followed by IgM (39.8%), and IgG (89.77%). DENV 1 and DENV 2 were found to be circulating, representing 20% and 80% respectively. Data on fever, shortness of breath, body aches, headache, nausea, vomiting, diarrhea, and epistaxis revealed significant differences. We conclude that continuous surveillance of dengue and other Flaviviruses and their infections is necessary to improve the prognosis and management of vector-borne diseases, thereby reducing the associated mortality rate of patients in Pakistan., Competing Interests: Declarations. Competing interests: The authors declare no competing interests., (© 2024. The Author(s).)

Purpose: We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study., Methods: Individuals in the Deciphering Developmental Disorders study who had a pathogenic/likely pathogenic genotype in the DECIPHER database were selected for inclusion ( n  = 5010). Clinical notes from regional clinical genetics services notes were reviewed to assess predefined clinical outcomes relating to interventions, prenatal choices, and information provision., Results: Outcomes were recorded for 4237 diagnosed probands (85% of those eligible) from all 24 recruiting centers across the United Kingdom and Ireland. Clinical management was reported to have changed in 28% of affected individuals. Where individual-level interventions were recorded, additional diagnostic or screening tests were started in 903 (21%) probands through referral to a range of different clinical specialties, and stopped or avoided in a further 26 (0.6%). Disease-specific treatment was started in 85 (2%) probands, including seizure-control medications and dietary supplements, and contra-indicated medications were stopped or avoided in a further 20 (0.5%). The option of prenatal/preimplantation genetic testing was discussed with 1204 (28%) families, despite the relatively advanced age of the parents at the time of diagnosis. Importantly, condition-specific information or literature was given to 3214 (76%) families, and 880 (21%) were involved in family support groups. In the most common condition (KBG syndrome; 79 [2%] probands), clinical interventions only partially reflected the temporal development of phenotypes, highlighting the importance of consensus management guidelines and patient support groups., Conclusion: Our results underscore the importance of achieving a clinico-molecular diagnosis to ensure timely onward referral of patients, enabling appropriate care and anticipatory surveillance, and for accessing relevant patient support groups., Competing Interests: The authors declare no conflicts of interest., (© 2024 The Authors.)

Background -Gastroesophageal reflux disease (GERD) is commonly diagnosed in patients with severe obesity. The outcomes of patients with preoperative GERD after sleeve gastrectomy (SG) are unclear, and some surgeons consider GERD a contraindication for SG. Methods -A retrospective analysis of a tertiary university hospital database was conducted. All patients with preoperative GERD undergoing SG between January 2012 and January 2020 and having at least two years of follow-up were included in the analysis. A validated GERD-associated quality of life questionnaire (GERD-HRQL) was completed by all patients. Results -During the study period, 116/1985 patients (5.8%) were diagnosed with GERD before SG. In total, 55 patients were available for a two-year follow-up and were included in the analysis. Median follow-up was 40 months (range 24-156 months). Mean total weight loss (TWL) was 24.0% ± 12.0%. On follow-up, 43 patients (78.1%) reported having GERD symptoms. In patients who underwent postoperative endoscopy, less than a third had esophagitis. The mean GERD-HRQL score was 25.2 ± 10.9. On univariable analysis, patients with poor GERD-HRQL had lower BMI at baseline (41.5 ± 12.4 vs. 44.9 ± 10.0 kg/m 2 , p = 0.03), were less commonly smokers at baseline (8.1% vs. 33.3%, p = 0.02), and had lower TWL at the end of the follow-up (22.2% ± 10.4% vs. 28.9% ± 13.7%, p = 0.05). On multivariable analysis, smoking status at baseline and TWL at last follow-up were independent predictors of better GERD-HRQL. Conclusions -In conclusion, most GERD patients after SG have a relatively high GERD-HRQL score, most patients still have GERD symptoms during the follow-up, and approximately a third of patients have endoscopic signs of esophagitis. There was an association between patients with higher TWL and smoking at baseline and better GERD-HRQL outcomes. The latter is potentially due to smoking cessation.

Purpose: This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. Molecularly, the role of the nucleolar protein ACTL6B in contributing to the disease has remained unclear., Methods: We identified 105 affected individuals, including 39 previously reported cases, and systematically analyzed detailed clinical and genetic data for all individuals. Additionally, we conducted knockdown experiments in neuronal cells to investigate the role of ACTL6B in ribosome biogenesis., Results: Biallelic variants in ACTL6B are associated with severe-to-profound global developmental delay/intellectual disability, infantile intractable seizures, absent speech, autistic features, dystonia, and increased lethality. De novo monoallelic variants result in moderate-to-severe global developmental delay/intellectual disability, absent speech, and autistic features, whereas seizures and dystonia were less frequently observed. Dysmorphic facial features and brain abnormalities, including hypoplastic corpus callosum, and parenchymal volume loss/atrophy, are common findings in both groups. We reveal that in the nucleolus, ACTL6B plays a crucial role in ribosome biogenesis, particularly in pre-rRNA processing., Conclusion: This study provides a comprehensive characterization of the clinical spectrum of both autosomal recessive and dominant forms of ACTL6B-associated disorders. It offers a comparative analysis of their respective phenotypes provides a plausible molecular explanation and suggests their inclusion within the expanding category of "ribosomopathies.", Competing Interests: Conflict of Interest Sureni V. Mullegama and Amber Begtrup are employees of GeneDx. Lee Hane is an employee at 3billion. Christian Beetz is an employee at Centogene. All other authors declare no conflicts of interest., (Copyright © 2024 The Authors. Published by Elsevier Inc. All rights reserved.)

Background & Objective: Nearly 80 million of the Pakistani population received two doses of the BBIBP-CorV vaccine, against SARS-CoV-2, and 2.6 million people received heterologous booster doses up to February 2022. Our objective was to measure the long-term change of antibody titers in persons vaccinated with Pfizer-BioNTech COVID-19 following two doses of BBIBP-CorV., Methods: Serum specimens from forty-three participants were collected 4-8 weeks following two doses of BBIBP-CorV at the Indus Hospital & Health Network, Karachi. A second set of serum specimens were collected 2-12 months after Pfizer-BioNTech COVID-19 booster dose administration. Chemiluminescent Microparticle Immunoassay (CMIA, Abbott Alinity Quant), and the pseudotyped lentivirus antibody neutralization assay were performed on all specimens. The latter assay was reported as log half-maximal inhibitory concentrations (IC50), calculated using a nonlinear regression algorithm (log [inhibitor] versus normalized response variable slope) in Graph Pad Prism 9. Paired sample t-test was used to ascertain the statistical significance of the difference in means of antibody titers obtained before and after the booster vaccine doses., Results: Mean log10 values obtained with CMIA before and after the booster dose were 2.90 AU/mL and 3.87 AU/mL respectively, while the corresponding log10 IC50 values obtained through pseudotyped lentivirus antibody neutralization assay were 2.45 and 2.80. These differences were statistically significant with CMIA (p = <0.00001), but not with pseudotyped lentivirus antibody neutralization assay (p = 0.06318.)., Conclusion: A heterologous booster dose with Pfizer-BioNTech COVID-19 vaccine following two doses of BBIBP results in increased total antibody titers, though neutralizing antibody titers may start to wane a few months after the booster dose., Competing Interests: Conflicts of interests: The authors report no conflict of interest., (Copyright: © Pakistan Journal of Medical Sciences.)

Background & Objective: Selective high-risk screening of children suspected of having inherited metabolic disorders was conducted jointly by Chemical Pathology section and the Pediatric Department of Indus Hospital and Health Network- (IHHN) from October 2020-March 2022. Tandem mass spectrometry (MS) for newborn screening was recently introduced in a local laboratory. We did a selective high screening of children for metabolic disorders by using MS for neonates and other relevant tests for older children in our hospital. The present study was undertaken to get an estimate of the number of metabolic cases screened and identified after inclusion of an extended workup., Methods: This is a retrospective chart review of children who were selectively screened for IMDs. Patients' records with ages ranging from birth to fourteen years of age were retrieved from the electronic records department of IHHN from October 2020 to March 2022. Records were searched for demographic data, history, signs, symptoms, and lab investigations. All relevant information was recorded on a pre-designed questionnaire., Results: A total of 178 children were screened for inherited metabolic disorders. Majority of the children screened were less than one month of age 96 (54%). Consanguinity was noted in 74 (41.5%) children. Most common symptoms observed were failure to thrive in 77 children (43%), hypoglycemia in 45 children (25%), and feeding difficulty in 36 children (20%). Inherited metabolic disorders were confirmed in 12 children out of which five had congenital adrenal hyperplasia, four had cystic fibrosis and three children had congenital hypothyroidism., Conclusion: In the present study, we were able to screen several children after inclusion of an extended metabolic workup. However, confirmation of many disorders like fatty acid oxidation defects, disorders of carbohydrate metabolism, and sphingolipidosis could not be done due to lack of confirmatory tests. We recommend that confirmatory tests of these disorders be included in local labs., Competing Interests: Conflict of interests: The authors declare that they have no competing interests., (Copyright: © Pakistan Journal of Medical Sciences.)

An increasing number of breakthrough-COVID-19-vaccinated individuals are being reported across the world. Humoral immunity has a crucial role in combating infection. In this study, we aimed to assess the importance of anti-COVID-S1-IgA and anti-COVID-NP-IgA in confirmed COVID-19 after vaccination (breakthrough infection group). Blood samples were collected from the breakthrough infection group within one week of breakthrough infections (n = 34). A second sample was also collected after 4 to 8 weeks (n = 27). Blood samples of healthy individuals (n = 29) were collected 4-8 weeks after the completion of vaccination. Anti-COVID-S1-IgA and anti-COVID-NP-IgA were detected by ELISA. Statistical analysis was performed using IBM SPSS version 24. In this study, we found a higher positivity rate for anti-COVID-S1-IgA in the breakthrough infection group (70% vs. 28% in healthy individuals). Anti-COVID-NP-IgA was not found in the control group (11% in the breakthrough infection group vs. 0 in healthy individuals). In the breakthrough-infected group, the positivity rate of anti-COVID-NP-IgA decreased significantly (median titers 16.9 IU/ml decreased to 4.2 IU/ml) p = 0.001), while anti-COVID-S1-IgA increased over a period of 4-8 weeks (9.35-16.35 IU/ml). Importantly, IgA response to both COVID-19 NP and S1 antigens was not found in 13 patients at initial testing. The findings of this study show that serum IgA may have a role both in breakthrough infections and also in the prevention of severe infection. Sluggish anti-COVID-19-IgA antibody response may be responsible for the occurrence of COVID-19 infection in breakthrough infection. On the other hand, more sustained anti-COVID-19-S1-IgA over a longer period of time may have a role in preventing these patients from severe infections and hospitalization. However, a study on a larger sample size including patients with severe disease after vaccination is required to prove this hypothesis. To the best of our knowledge, this is the first study reporting the importance of serum IgA in breakthrough-infected patients from our region., (© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Background: Gastroesophageal reflux disease (GERD) is common after sleeve gastrectomy (SG). We aimed to evaluate the effect of revisional one anastomosis gastric bypass (OAGB) on GERD, compared with revisional Roux-en-Y gastric bypass (RYGB) METHODS: A retrospective single-center study of a prospectively maintained patient registry (2018-2022). All patients with GERD undergoing OAGB and RYGB after SG were retrieved and included in the study., Results: Seventy-eight SG patients had conversion to OAGB (n=31) and RYGB (n=47). Baseline characteristics were similar except age (43.8±11.5 vs. 50.3±13.4 years; p=0.03), body mass index (39.9±8.8 vs. 30.6±6 kg/m 2 ; p<0.001), time interval (8±2.7 vs. 6.4±3.4 years; p=0.01), and sleep apnea (29% vs 8.5%; p=0.01), respectively. There was no significant difference between groups in number of patients consuming proton pump inhibitors (70.1% vs. 72.3%; p=0.66), GERD-health-related quality of life (HRQL) score (9.6±7.2 vs. 13.1±8; p=0.06), and pathological endoscopic findings (48.4% vs. 46.8%; p=0.89). Major complication rates were 0% vs. 8.5% (p=0.09). At 32.4 months follow-up, total weight loss was 22%±12.9 and 4.4%±14.6 (p<0.001), GERD resolution 77.4% and 91.9% (p=0.03), HRQL scoring improved to 1.7±4.5 and 1.7±2.7; p=0.94 for OAGB and RYGB, respectively., Conclusions: SG conversion to RYGB provides better chances for definitive treatment of GERD. OAGB results in good symptom resolution and improved quality of life and may be considered for post-SG GERD treatment. The most appropriate solution should be individualized to each patient., (© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Perihepatitis (Fitz-Hugh-Curtis syndrome) is a rare complication of sexually transmitted infections, mostly seen in women. Only 12 male cases have been reported to date, of which Chlamydia trachomatis was confirmed in 2. We report a case of chlamydial perihepatitis in a male patient, occurring 1 month after Mpox and associated with the unusual LGV ST23 strain. Our case suggests that rectal Mpox lesions may facilitate chlamydial dissemination., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Objectives  Troponins are classically raised in acute coronary syndrome (ACS) although other cardiovascular and non-cardiovascular causes are recognized. We aimed to see the association of high sensitivity (Hs) Troponin I values exceeding the sex-specific 99th percentile upper reference limit (URL) with diagnoses, emergency department (ED) outcomes, 30-day outcomes of admitted patients and predictors of ACS in both genders. Materials and Methods  A retrospective study of all patients presenting to the emergency department from January 2019 to April 2021 with suspicion of ACS and Hs-Troponin I values greater than the sex-specific 99th percentile URL. Statistical Analysis  SPSS version 24 was used, Pearson's chi-square tests, Fisher's exact test, Kruskal-Wallis test, Mann-Whitney U test, and odds ratios, including the 95% confidence intervals, for each characteristic were used for analysis. A p -value of < 0.05 was considered significant. Results  There were a total of 5,982 patients (3,031 males, 2,951 females), out of which 878 patients were admitted under the cardiology specialty. In patients who were admitted to the ward, mortality was higher in females (8.2%) with less than a 10-fold rise in Hs-Troponin I while similar in both genders (7.6%) in patients with Hs-troponin I greater than 10-fold of sex-specific 99th percentile URL. Raised low-density lipoprotein-cholesterol was a significant factor associated with 2.4 times higher odds of ACS. Conclusion  Women with Hs-Troponin values up to 10 times the URL, i.e., 15.6-160 ng/L have higher mortality than their male counterparts. LDL-cholesterol is a significant risk factor for ACS which should be controlled for its prevention., Competing Interests: Conflict of Interest None declared., (The Indian Association of Laboratory Physicians. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. ( https://creativecommons.org/licenses/by-nc-nd/4.0/ ).)

With widespread global COVID-19 vaccine coverage, a scalable, cost-effective, and standardized tool to ascertain post-vaccine immunity is a dire need. Neither clinical evaluations of vaccine efficacy, nor live virus antibody neutralization assays fulfill these criteria. Commercially available anti-S binding immunological assays have the potential to fill this gap, but need to be systematically evaluated for their utility to serve as surrogates for the aforementioned, widely accepted tools of determining vaccine efficacy. In this study, we evaluated an anti-S binding immunological assay (Roche Elecsys Anti-SARS-CoV-2 S) by utilizing two hundred and fifty-five archived serum specimens, either pre-pandemic, or those exposed to natural infections or vaccines with their neutralizing titers pre-determined through a live virus, pseudotyped antibody neutralization assay. Roche Elecsys Anti-SARS-CoV-2 S demonstrated good sensitivity (98%) and specificity (99%), just as has been reported in some other previously conducted studies using this assay. Only a mild correlation, however, with the live virus pseudotyped lentivirus antibody neutralization assay (Spearman's r = 0.26) was observed. We conclude that, as such, Elecsys Anti-SARS-CoV-2 S has a high sensitivity and specificity for detecting anti-SARS-CoV-2 S proteins, though the assay does not always correlate well with live virus assays for quantitative outcomes., Competing Interests: The authors declare no conflict of interest. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results., (© 2023 The Author(s).)

Objectives  Monocyte distribution width (MDW) can be used for the early recognition of sepsis. The study compared the diagnostic accuracy of the MDW with two well-known sepsis biomarkers, procalcitonin (PCT) and C-reactive protein (CRP). Materials and Methods  A study was conducted from July 2021 to October 2021, on 111 patients admitted to the Indus Hospital and Health Network. Patients from the ages of 1 to 90 years were enrolled if hospitalized for more than 24 hours for suspected sepsis to avoid inclusion of patients who had short-term stay in the emergency department. According to the Sequential Organ Failure Assessment score, the clinical team did the characterization of cases as with sepsis or without sepsis. SPSS version 24 was used, and the diagnostic accuracy of MDW was assessed and compared using the area under the curves (AUCs) acquired from receiver operating characteristic curves. Pearson's chi-square/Fisher's exact test (as per need) was applied to determine the association. A p -value of less than 0.05 was considered significant. Results  Among 111 patients, 81 (73%) patients were labeled with sepsis and 30 (27%) were without sepsis. We have reported significantly higher MDW, PCT, and CRP levels in septic patients ( p  < 0.001). The AUC of MDW was comparable with PCT (0.794). Significant cutoff value for the MDW was greater than 20.24 U with 86% sensitivity and 73% specificity. Conclusion  MDW may have a predictive ability similar to PCT and CRP in terms of sepsis and, thus, can be used as a standard parameter for the timely diagnosis of sepsis., Competing Interests: Conflict of Interest None declared., (The Indian Association of Laboratory Physicians. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. ( https://creativecommons.org/licenses/by-nc-nd/4.0/ ).)

TAB2 is a gene located on chromosome 6q25.1 and plays a key role in development of the heart. Existing literature describes congenital heart disease as a common recognized phenotype of TAB2 gene variants, with evidence of a distinct syndromic phenotype also existing beyond this. Here we describe 14 newly identified individuals with nine novel, pathogenic TAB2 variants. The majority of individuals were identified through the Deciphering Developmental Disorders study through trio whole exome sequencing. Eight individuals had de novo variants, the other six individuals were found to have maternally inherited, or likely maternally inherited, variants. Five individuals from the same family were identified following cardiac disease gene panel in the proband and subsequent targeted familial gene sequencing. The clinical features of this cohort were compared to the existing literature. Common clinical features include distinctive facial features, growth abnormalities, joint hypermobility, hypotonia, and developmental delay. Newly identified features included feeding difficulties, sleep problems, visual problems, genitourinary abnormality, and other anatomical variations. Here we report 14 new individuals, including novel TAB2 variants, in order to expand the emerging syndromic clinical phenotype and provide further genotype-phenotype correlation., (© 2022 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)

Traboulsi syndrome, otherwise known as facial dysmorphism, lens dislocation, anterior-segment abnormalities and spontaneous filtering blebs, is an autosomal recessive condition associated with characteristic ocular features including dislocated crystalline lenses, anterior segment abnormalities and in some individuals, non-traumatic conjunctival cysts. There is a distinctive facial appearance which includes flattened malar region with convex nasal ridge. Alterations in the aspartate beta-hydroxylase (ASPH) gene are known to be the cause of the condition. We report seven further individuals from six unrelated families with characteristic ocular and facial features. Five individuals had aortic root dilatation, with childhood onset in some, and one undergoing aortic root repair aged 47 years for severe aortic regurgitation and aortic root dilatation. Interestingly, inguinal hernias were commonly reported. Although some skeletal features were seen, these were not consistent. One of the patients had mild deficiency of factor VII on clotting studies. The ASPH protein hydroxylates specific asparagine- and aspartate-residues in epidermal growth factor (EGF)-domain containing proteins including coagulation factors and associated genes including FBN1. We propose this as an explanation for the overlap in clinical features with Marfan syndrome and conclude that Traboulsi syndrome is an important differential diagnosis. We strongly recommend echocardiography surveillance for patients with Traboulsi syndrome., Competing Interests: Declaration of competing interest The authors have no conflicts of interest to declare., (Copyright © 2022 Elsevier Masson SAS. All rights reserved.)

Background: The quest for effective therapies in Covid-19 continues. We compared the outcome of severe COVID-19 patients treated with and without Tocilizumab, an IL-6 inhibitor., Methods: This is a prospective cohort study on the clinical characteristics and outcomes of patients with Covid-19 patients admitted at The Indus Hospital and Health Network, Karachi between 24th March and 19th June 2020. Adult patients who received TCZ were compared with respect to mortality and days of hospitalization with those who did not., Results: A total of 88 patients including 41 patients in the TCZ group and 47 in non-TCZ group were recruited. Baseline demographic characteristics were comparable. TCZ group patients presented with worse clinical features including median SpO2 82% vs 88%, p<0.05 and CRP 193 vs 133.9 mg/L, p<0.05. Approximately, 85.4% were admitted in ICU compared to 69.8% in non-TCZ group, p>0.05. Mortality was not different among the groups (46% in TCZ group vs 51.1% in non-TCZ group, p>0.05). Median length of hospital stays, days of intubation, use of inotropic agents, and use of invasive ventilation or in-hospital complications were similar between the groups. Sub-group analysis revealed that mortality within TCZ group was associated with high IL-6 levels (173 vs 69.66 pg/ml, p<0.05), ICU admission (100% vs 72%, p<0.05), need for mechanical ventilation (100% vs 13.6%, p<0.05) and higher incidence of in-hospital complications, p<0.05., Conclusion: TCZ failed to demonstrate any mortality benefit in our patients. Non-survivors within the TCZ group were more critical compared to survivors and developed more in hospital complications.

Introduction: Troponin I levels are biomarkers of choice for diagnosis of acute myocardial infarction (AMI). However, prognostic significance of values below the 99th percentile upper reference limit (URL) in patients presenting with symptoms suggestive of Acute coronary syndrome (ACS) need further evaluation., Aim: The objectives of the study were to find the association of High sensitivity (hs)-Troponin I values below 99th percentile URL with age and the Emergency Department (ED) outcome, to determine single cut-off for safe discharge of these patients from the ED and to determine the 30-day outcome of the patients admitted under cardiac speciality., Methods: This is a retrospective study of patients presenting with suspicion of ACS in the ED between January 2019 till April 2021 and hs-Troponin I values below 99th percentile URL., Results: Among 15,441 patients, 8034 (52%) were males and 7407 (48%) were females. 9677 (63%) of the patients had hs-Troponin I values < 5 ng/L while 5764 (37%) had values between 5 ng/L and 99th percentile URL. Higher hs-Troponin I values were associated with a worse ED outcome. Serial troponin I levels were performed in only 2.4% of the cohort. Receiver operating characteristics for ACS demonstrated an AUC of 0.84 at a cut off value of 12.75 ng/L, with sensitivity (76.9%) and specificity was 75.1%. The 30-day outcome of the patients admitted under cardiac speciality revealed no mortality in either group., Conclusion: An overall single cut-off value of 12.75 ng/L can be used in our population for ruling our ACS provided it is unaccompanied by other supportive clinical and ECG findings., (© 2022. Italian Society of Hypertension.)

Objective: To determine the association between seroconversion status and outcome in admitted COVID-19 patients and compare inflammatory markers amongst them., Study Design: Single cohort observational study., Place and Duration of Study: Indus Hospital and Health Network between 10th May and 10th July 2020., Methodology: All admitted patients were tested serially for anti-COVID-IgM and IgG until their sera showed positive results. This was continued until their expiry or discharge. Those patients who remained negative for both anti-COVID-19-IgG and IgM were labeled as non-seroconverts. Demographics, comorbidities, inflammatory marker levels and outcome (alive/expired) were compared between seroconverts and non-seroconverts., Results: In 224 admitted patients, the median seroconversion time of IgM and IgG was six and seven days in survivors and non-survivors respectively. Expired patients displayed higher levels of procalcitonin (maximum), C-reactive protein, and Interleukin-6 (baseline and maximum). Of 34 non-seroconverts, 17 (50%) expired. Non-seroconverts significantly failed to develop fever and had lower levels of ferritin, CRP, and LDH., Conclusion: Non-seroconversion in hospitalised COVID-19 infected patients indicated muted immune and acute phase response and was associated with poor outcomes. Hence these patients need to be carefully evaluated and managed., Key Words: Antibody response, Corticosteroids, Immunosuppression, SARS-Cov-2, Seroconversion.

Fifty five percent of the Pakistani population is still unvaccinated with the two-dose protocol of COVID-19 vaccines. This study was undertaken to determine the seroconversion rate and antibody titers following the two-dose BBIBP-CorV protocol, and to compare these variables in unvaccinated, COVID-19 recovered individuals (total n = 180) at Indus Hospital and Health Network, Karachi. Pseudotyped lentivirus antibody neutralization assays and SARS-CoV-2 IgG Quant II (Abbott) immunoassays were performed 4-8 weeks following the second dose of the BBIBP-CorV or PCR positivity/onset of symptoms of COVID-19. Seroconversion rate, using neutralization assays, in vaccinated individuals was lower (78%) than that in unvaccinated, COVID-19-recovered individuals with moderate to severe infection (97%). Prior PCR positivity increased serocoversion rate to 98% in vaccinated individuals. Immunoassays did not, however, reveal significant inter-group differences in seroconversion rates (≥95% in all groups). Log10 mean antibody neutralizing titers following the two-dose BBIBP-CorV protocol (IC50 = 2.21) were found to be significantly less than those succeeding moderate to severe COVID-19 (IC50 = 2.94). Prior SARS-CoV-2 positivity significantly increased post-vaccination antibody titers (IC50 = 2.82). Similar inter-group titer differences were obtained using the immunoassay. BBIBP-CorV post-vaccination titers may, thus, be lower than those following natural, moderate to severe infection, while prior SARS-CoV-2 exposure increases these titers to more closely approximate the latter.

Background: Amongst the pre-analytical, analytical, and post-analytical phase of laboratory testing, pre-analytical phase is the most error-prone. Knowledge gaps in understanding of pre-analytical factors are identified in the clinical years amongst undergraduate students due to lack of formal teaching modules on the pre-analytical phase. This study was conducted to seek experts' consensus in Clinical Chemistry on learning objectives and contents using the Delphi technique with an aim to develop an asynchronous virtual classroom for teaching pre-analytical factors of laboratory testing., Methods: A mixed method study was conducted at the Aga Khan University. A questionnaire comprising of 16 learning objectives and their associated triggers was developed on Google Docs for developing the case vignettes. A four-point Likert Scale, which included strongly agree, agree, disagree and strongly disagree, was utilized for the learning objectives. An open-ended question was included for experts to suggest new items for inclusion. A cut off of at least 75% agreement was set to establish consensus on each item. A total of 17 Chemical Pathology faculty from 13 institutions across Pakistan were invited to participate in the first round of Delphi. Similar method of response was used in round two to establish consensus on the newly identified items suggested by the faculty in round 1. Later, the agreed-upon objectives and triggers were used to develop interactive scenarios over Moodle to concurrently test and teach medical students in a nonchalant manner., Results: A total of 17 responses were received in Round 1 of the Delphi process (response rate = 100%), while 12 responses were received in Round 2 (response rate = 71%). In round 1, all 16 learning objectives reached the required consensus (≥ 75%) with no additional learning objectives suggested by the experts. Out of 75 triggers in round 1, 61 (81.3%) reached the consensus to be included while 39 were additionally suggested. In 2nd round, 17 out of 39 newly suggested triggers met the desired consensus. 14 triggers did not reach the consensus after two rounds, and were therefore eliminated. The virtual classroom developed using the agreed-upon learning objectives and triggers consisted of 20 items with a total score of 31 marks. The questions included multiple choice questions, fill in the blanks, drag and drop sequences and read-and-answer comprehensions. Specific learning points were included after each item and graphs and pictures were included for a vibrant experience., Conclusion: We developed an effective and interactive virtual session with expert consensus on the pre-analytical phase of laboratory testing for undergraduate medical students which can be used for medical technologist, graduate students and fellows in Chemical Pathology., Competing Interests: The authors have declared that no competing interests exist.

Accurate and rapid diagnosis of coronavirus disease 2019 (COVID-19) is critical for proper care and identification of affected individuals. This led to early availability of many serological assays in the market, but with limited validation. In this study, we aimed to validate the serological assays based on different techniques. We evaluated 15 different assays based on four immunoassay techniques in 235 patients. The most sensitive kits employed were as follows: immunochromatography (Zybio severe acute respiratory syndrome coronavirus 2 [SARS-CoV-2] IgM/IgG Antibody Assay Kit - 83%), ELISA (Aeskulisa SARS-CoV-2 NP IgG -88.1%), chemiluminescence (Alinity SARS-CoV-2 IgG - 82.2%), and immunofluorescence (Lifotronic FA160 (Shenzhen SARS-CoV-2 Assay Kit [IgG]) - 88.9%). The kits by Uniper (Singuway Biotec COVID-19 IgM/IgG Presumptive Kit), Genrui 2019-nCoV IgM/IgG Test Kit, Wondfu SARS-CoV-2 Antibody Test, and Aeskulisa SARS-CoV-2 NP IgG exhibited 100% specificity, whereas IgG assay using Lifotronic FA160 (Shenzhen SARS-CoV-2 Assay Kit) exhibited the lowest specificity at 58%. Maximum agreement was observed between Aeskulisa SARS-CoV-2 NP IgG and Alinity SARS-CoV-2 IgG at 94%. Serological tests are practical alternatives, but their reliability depends on critical validation. The COVID-19 pandemic warranted investment in healthcare research at both the national and international levels.

The congenital imprinting disorder, Beckwith-Wiedemann syndrome (BWS) is associated with variable clinical features including hemihypertrophy/lateralised overgrowth (LO) and embryonal tumour predisposition. BWS-associated (epi)genetic alterations occur in a subset of patients with isolated LO (ILO), leading to the concept of BWS spectrum disorder (BWSp). We investigated the relationship between clinical features and molecular diagnostic results in a cohort with LO using the BWSp international consensus group (BWSICG) clinical scoring system. Clinical/molecular findings in 94 previously-unreported patients with LO referred for BWSp molecular studies were reviewed retrospectively. The BWSICG score was assigned and diagnostic rate calculated. BWSp-associated (epi)genetic alteration was identified in 15/94 (16%). The molecular diagnostic rate by MS-MLPA (blood DNA) for BWS-related molecular findings in patients with LO was positively correlated with the BWSICG score. 3/48 with ILO had a molecular alteration. No individuals with ILO had developed an embryonal tumour at last follow up. Among a cohort of individuals with LO referred for BWSp molecular testing, the BWSICG score correlated with diagnostic yield. The embryonal tumour risk in children with ILO and negative molecular testing appeared very low, however longer- and more complete follow up is required to better define tumour risks in this group., (© 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Spectrins are common components of cytoskeletons, binding to cytoskeletal elements and the plasma membrane, allowing proper localization of essential membrane proteins, signal transduction, and cellular scaffolding. Spectrins are assembled from α and β subunits, encoded by SPTA1 and SPTAN1 (α) and SPTB, SPTBN1, SPTBN2, SPTBN4, and SPTBN5 (β). Pathogenic variants in various spectrin genes are associated with erythroid cell disorders (SPTA1, SPTB) and neurologic disorders (SPTAN1, SPTBN2, and SPTBN4), but no phenotypes have been definitively associated with variants in SPTBN1 or SPTBN5. Through exome sequencing and case matching, we identified seven unrelated individuals with heterozygous SPTBN1 variants: two with de novo missense variants and five with predicted loss-of-function variants (found to be de novo in two, while one was inherited from a mother with a history of learning disabilities). Common features include global developmental delays, intellectual disability, and behavioral disturbances. Autistic features (4/6) and epilepsy (2/7) or abnormal electroencephalogram without overt seizures (1/7) were present in a subset. Identification of loss-of-function variants suggests a haploinsufficiency mechanism, but additional functional studies are required to fully elucidate disease pathogenesis. Our findings support the essential roles of SPTBN1 in human neurodevelopment and expand the knowledge of human spectrinopathy disorders., (© 2021 Wiley Periodicals LLC.)

The CAMTA1-associated phenotype was initially defined in patients with intragenic deletions and duplications who showed nonprogressive congenital ataxia, with or without intellectual disability. Here, we describe 10 individuals with CAMTA1 variants: nine previously unreported (likely) pathogenic variants comprising one missense, four frameshift and four nonsense variants, and one missense variant of unknown significance. Six patients were diagnosed following whole exome sequencing and four individuals with exome-based targeted panel analysis. Most of them present with developmental delay, manifesting in speech and motor delay. Other frequent findings are hypotonia, cognitive impairment, cerebellar dysfunction, oculomotor abnormalities, and behavioral problems. Feeding problems occur more frequently than previously observed. In addition, we present a systematic review of 19 previously published individuals with causal variants, including copy number, truncating, and missense variants. We note a tendency of more severe cognitive impairment and recurrent dysmorphic features in individuals with a copy number variant. Pathogenic variants are predominantly observed in and near the N- and C- terminal functional domains. Clinical heterogeneity is observed, but 3'-terminal variants seem to associate with less pronounced cerebellar dysfunction., (© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Background: assessing the risk of conversion to multiple sclerosis (MS) in patients with optic neuritis (ON) has been the topic of numerous studies. However, since the risk factors differ from population to population, the extension of conclusions is a matter of debate. This study focused on the Iranian patients with optic neuritis and assessed the probability of conversion to multiple sclerosis by using a machine-based learning decision tree., Methods: in this retrospective, observational study the medical records of patients with optic neuritis from 2008 to 2018 were reviewed. Baseline vision, the treatment modality, magnetic resonance imaging (MRI) findings, and patients' demographics were gathered to evaluate the odds of each factor for conversion to MS. The decision tree was then obtained from these data based on their specificity and sensitivity to predict the probability of conversion to MS., Results: the overall conversion rate to MS was 42.2% (117/277). 63.1 percent of patients had abnormal MRIs at baseline. The presence of white matter plaque had the highest odds for the conversion followed by the positive history of optic neuritis attack and gender. The regression tree showed that the presence of plaque was the most important predicting factor that increased the probability of conversion from 16 to 51 percent., Conclusion: the decision tree could predict the probability of conversion to MS by considering multiple risk factors with acceptable precision., (Copyright © 2020. Published by Elsevier B.V.)

Two 1p36 contiguous gene deletion syndromes are known so far: the terminal 1p36 deletion syndrome and a 1p36 deletion syndrome with a critical region located more proximal at 1p36.23-1p36.22. We present even more proximally located overlapping deletions from seven individuals, with the smallest region of overlap comprising 1 Mb at 1p36.13-1p36.12 (chr1:19077793-20081292 (GRCh37/hg19)) defining a new contiguous gene deletion syndrome. The characteristic features of this new syndrome are learning disability or mild intellectual disability, speech delay, behavioral abnormalities, and ptosis. The genes UBR4 and CAPZB are considered the most likely candidate genes for the features of this new syndrome., (© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Developmental and Epileptic encephalopathies (DEE) describe heterogeneous epilepsy syndromes, characterized by early-onset, refractory seizures and developmental delay (DD). Several DEE associated genes have been reported. With increased access to whole exome sequencing (WES), new candidate genes are being identified although there are fewer large cohort papers describing the clinical phenotype in such patients. We describe 6 unreported individuals and provide updated information on an additional previously reported individual with heterozygous de novo missense variants in YWHAG. We describe a syndromal phenotype, report 5 novel, and a recurrent p.Arg132Cys YWHAG variant and compare developmental trajectory and treatment strategies in this cohort. We provide further evidence of causality in YWHAG variants. WES was performed in five patients via Deciphering Developmental Disorders Study and the remaining two were identified via Genematcher and AnnEX databases. De novo variants identified from exome data were validated using Sanger sequencing. Seven out of seven patients in the cohort have de novo, heterozygous missense variants in YWHAG including 2/7 patients with a recurrent c.394C > T, p.Arg132Cys variant; 1/7 has a second, pathogenic variant in STAG1. Characteristic features included: early-onset seizures, predominantly generalized tonic-clonic and absence type (7/7) with good response to standard anti-epileptic medications; moderate DD; Intellectual Disability (ID) (5/7) and Autism Spectrum Disorder (3/7). De novo YWHAG missense variants cause EE, characterized by early-onset epilepsy, ID and DD, supporting the hypothesis that YWHAG loss-of-function causes a neurological phenotype. Although the exact mechanism of disease resulting from alterations in YWHAG is not fully known, it is possible that haploinsufficiency of YWHAG in developing cerebral cortex may lead to abnormal neuronal migration resulting in DEE., (© 2020 Wiley Periodicals, Inc.)

Recurrent somatic variants in SPOP are cancer specific; endometrial and prostate cancers result from gain-of-function and dominant-negative effects toward BET proteins, respectively. By using clinical exome sequencing, we identified six de novo pathogenic missense variants in SPOP in seven individuals with developmental delay and/or intellectual disability, facial dysmorphisms, and congenital anomalies. Two individuals shared craniofacial dysmorphisms, including congenital microcephaly, that were strikingly different from those of the other five individuals, who had (relative) macrocephaly and hypertelorism. We measured the effect of SPOP variants on BET protein amounts in human Ishikawa endometrial cancer cells and patient-derived cell lines because we hypothesized that variants would lead to functional divergent effects on BET proteins. The de novo variants c.362G>A (p.Arg121Gln) and c. 430G>A (p.Asp144Asn), identified in the first two individuals, resulted in a gain of function, and conversely, the c.73A>G (p.Thr25Ala), c.248A>G (p.Tyr83Cys), c.395G>T (p.Gly132Val), and c.412C>T (p.Arg138Cys) variants resulted in a dominant-negative effect. Our findings suggest that these opposite functional effects caused by the variants in SPOP result in two distinct and clinically recognizable syndromic forms of intellectual disability with contrasting craniofacial dysmorphisms., (Copyright © 2020 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)

Autism spectrum disorder (ASD) encompasses a spectrum of pervasive neuropsychiatric disorders characterized by deficits in social interaction, communication, unusual and repetitive behaviours. The aetiology of ASD is believed to involve complex interactions between genetic and environmental factors; it can be further classified as syndromic or nonsyndromic, according to whether it is the primary diagnosis or secondary to an existing condition where both common and rare genetic variants contribute to the development of ASD or are clearly causal. The prevalence of ASD in children is increasing with higher rates of diagnosis and an estimated one in 100 affected in the UK. Given that heritability is a major contributing factor, we aim to discuss research findings to-date in the context of a high-risk autism candidate gene, SHANK3 (SH3 and multiple ankyrin repeat domain 3), with its loss resulting in synaptic function disruption. We present a 10-year-old patient with a pathogenic de novo heterozygous c.1231delC, p.Arg411Val frameshift variant in SHANK3. He presented with severe autism, attention deficit hyperactivity disorder and pathological demand avoidance, on a background of developmental impairment and language regression. The number of genes associated with autism is ever increasing. It is a heterogeneous group of disorders with no single gene conferring pathogenesis in the majority of cases. Genetic abnormalities can be detected in ~15% of ASD and these range from copy number variants in 16p11.2 and 15q13.2q13.3 to several well-known genetic disorders including tuberous sclerosis and fragile X syndrome. Further, high confidence autism genes include but are not limited to NRXN, NLGN3, NLGN4, SHANK2 and SHANK3.

We report a case of successfully treated multiple liver abscesses in a liver-transplanted patient, sustained by combined multidrug-resistant infections. Two months after a liver transplant, a computed tomography scan revealed the presence of multiple abscesses in the liver graft. Blood cultures and abscessual liver fluid were both positive for acquired colistin- and carbapenem- resistant Klebsiella pneumoniae and an extended-spectrum of beta-lactamases-producing Enterobacter aerogenes. The treatment strategy consisted of different prolonged antimicrobial combinations and draining of the abscesses with complete recovery of the liver lesions.

Introduction: Excessive production of nitric oxide (NO) via inducible nitric oxide synthase (iNOS) is associated in renal ischemia reperfusion injury (IRI)., Objectives: This study was designed to investigate the role of S-methylisothiourea (SMT) as selective inhibitor iNOS in renal IRI., Materials and Methods: Male Wistar rats were subjected to 45 minutes of bilateral renal ischemia by occlusion of renal vessels of both kidney followed by 24 hours of reperfusion. Prior to renal IRI, the rats received either vehicle (saline, group 2) or SMT (50 mg/kg, group 3), and were compared with the sham-operated animals (group 1). At the end of reperfusion period, the rats were sacrificed for kidney tissue pathology investigation., Results: Serum creatinine (Cr), blood urea nitrogen (BUN), nitrite levels, and kidney weight significantly increased in groups 2 and 3 (P < 0.05). Kidney tissue damage scores in groups 2 and 3 were also higher than that in the sham-operated group (P < 0.05)., Conclusion: SMT not only prevent the kidney during IRI, but also promotes kidney function disturbance and severity of renal injury.

Objectives: To determine if patients allow medical students to perform less invasive procedures compared to more invasive procedures, and how this is related to patient demographics and previous experience with medical students., Methods: A cross-sectional survey was conducted in six areas of Birmingham, UK. All members of the general public over the age of 18 were eligible, excluding non-English speaking people and those with cognitive impairments. Respondents were asked to rank their willingness for medical students to perform history taking/examinations and clinical procedures of varying degrees of invasiveness., Results: We received a total of 293 responses. For both history taking/examinations and clinical procedures, people were more willing to allow medical students to perform less invasive procedures rather than more invasive procedures. White and older people were more willing to allow all history taking/examinations procedures; additionally, women were more willing to allow history taking. White, female, and older participants were more willing to allow blood pressure measurement; whilst older people and those with previous experience were more willing to allow venepuncture. No significant associations were found for intubation., Conclusions: The public is less willing for medical students to perform more invasive procedures. This may severely limit opportunities to attain clinical competencies.

Objective: To determine the prevalence of vitamin D deficiency in Pakistani parturients and their newborns and to assess the correlation between maternal and newborn serum levels of the vitamin D metabolite 25-hydroxy vitamin D3., Methods: A prospective study of parturients presenting to the labor suite with a singleton pregnancy. Maternal and cord blood were collected for estimation of serum 25-hydroxy vitamin D3., Results: In total, 89% of the gravidae were deficient in vitamin D (serum 25-hydroxy vitamin D3 <30 ng/mL). There was a positive correlation between maternal and cord blood 25-hydroxy vitamin D3 levels(r = 0.68; P < 0.001). Inverse correlations were noted between cord blood 25-hydroxy vitamin D3 and a longer duration of gestation (r = -0.33; P = 0.003) and with the newborn's birth weight (r = -0.23; P = 0.048). Maternal 25-hydroxy vitamin D3 levels were inversely correlated with maternal mean arterial pressure (r = 0.029; P < 0.020)., Conclusion: There was a high prevalence of vitamin D deficiency in the Pakistani parturients and their newborns. There was a correlation between higher maternal vitamin D levels and lower blood pressure in the mothers., (Copyright © 2011 International Federation of Gynecology and Obstetrics. All rights reserved.)