scholarly journals Hemoglobinopathies in newborns in the southern region of the Triângulo Mineiro, Brazil. Cross-sectional study

2015 ◽  
Vol 133 (5) ◽  
pp. 439-444 ◽  
Author(s):  
Aline Menezes Carlos ◽  
Renata Andréia Volpe Souza ◽  
Bruna Maria Bereta de Souza ◽  
Gilberto de Araujo Pereira ◽  
Sebastião Tostes Júnior ◽  
...  
Keyword(s):  
Neonatal Screening ◽  
Screening Program ◽  
Cross Sectional Study ◽  
Alkaline Ph ◽  
Sectional Study ◽  
Cross Sectional ◽  
Hb E ◽  
Hb S ◽  
Neonatal Screening Program ◽  
Hb C

ABSTRACT CONTEXT AND OBJECTIVE: Hemoglobinopathies are among the commonest and most widespread genetic disorders worldwide. Their prevalence varies according to ethnic composition and/or geographical region. The aim of this study was to investigate the presence of hemoglobinopathies and their association with ethnicity among 1,004 newborns, to confirm the guideline of the Brazilian National Neonatal Screening Program. DESIGN AND SETTING: Cross-sectional study conducted in a public referral hospital in the Triângulo Mineiro region, Minas Gerais, Brazil. METHODS: Qualitative assessment of hemoglobin was performed through electrophoresis on cellulose acetate: at alkaline pH to identify the hemoglobin (Hb) profile and at acid pH to differentiate Hb S from Hb D and Hb C from Hb E and others that migrate to similar positions at alkaline pH. Neutral pH was used to detect Hb Bart's identified in alpha thalassemia (α-thal). The elution method after electrophoresis was used to quantitatively assess hemoglobins. RESULTS: There was predominance of α-thal, with 105 cases (10.46%), followed by Hb S with 61 cases (6.08%, comprising 46 Hb AS, 2 Hb SS and 13 Hb S/α-thal), 9 cases (0.9%) of Hb AC and 6 cases (0.6%) suggestive of beta thalassemia (β-thal). The frequency of hemoglobinopathies was significantly higher among Afro-descendants. CONCLUSIONS: These findings corroborated of the National Neonatal Screening Program for diagnosing sickle cell disease and Hb C, Hb D, Hb E and β-thal hemoglobinopathies.

scholarly journals Impaired compensatory hyperinsulinemia among nonobese type 2 diabetes patients: a cross-sectional study

2019 ◽  
Vol 10 ◽  
pp. 204201881988902 ◽  
Author(s):  
Jit Sarkar ◽  
Sujay Krishna Maity ◽  
Abhishek Sen ◽  
Titli Nargis ◽  
Dipika Ray ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Weight Gain ◽  
Screening Program ◽  
Cross Sectional Study ◽  
Model Assessment ◽  
Fasting Insulin ◽  
Sectional Study ◽  
Cross Sectional ◽  
Healthy Group

Aims: Obesity associated prolonged hyperinsulinemia followed by β-cell failure is well established as the pathology behind type 2 diabetes mellitus (T2DM). However, studies on nonobese T2DM have reported it to be a distinct clinical entity with predominant insulin secretory defect. We, therefore, hypothesized that compensatory hyperinsulinemia in response to weight gain is impaired in nonobese subjects. Methods: This was a cross-sectional study from a community-based metabolic health screening program. Adiposity parameters including body mass index (BMI), waist circumference (WC), body fat percentage, plasma leptin concentration and metabolic parameters namely fasting insulin, glucose, total cholesterol, and triglycerides were measured in 650 individuals (73% healthy, 62% nonobese with a BMI <25). Results: In contrast to obese T2DM, nonobese T2DM patients did not exhibit significant hyperinsulinemia compared with the nonobese healthy group. Age, sex, and fasting glucose adjusted insulin levels, homeostatic model assessment of insulin resistance (HOMA-IR) and HOMA-beta cell function (HOMA-B) were increased in obese T2DM compared with nonobese T2DM. Although adiposity parameters showed strong correlation with fasting insulin in obese healthy ( r = 0.38, 0.38, and 0.42, respectively; all p values < 0.001) and T2DM ( r = 0.54, 0.54, and 0.66, respectively; all p < 0.001), only BMI and leptin showed a weak correlation with insulin in the nonobese healthy group (0.13 and 0.13, respectively; all p < 0.05) which were completely lost in the nonobese T2DM. Conclusions: Compensatory hyperinsulinemia in response to weight gain is impaired in the nonobese population making insulin secretory defect rather than IR the major pathology behind nonobese T2DM.

Cross-sectional study of bone metabolism with nutrition in adult classical phenylketonuric patients diagnosed by neonatal screening

2011 ◽  
Vol 29 (6) ◽  
pp. 737-743 ◽  
Author(s):  
Hironori Nagasaka ◽  
Hirokazu Tsukahara ◽  
Tomozumi Takatani ◽  
Yoshitami Sanayama ◽  
Masaki Takayanagi ◽  
...  
Keyword(s):  
Bone Metabolism ◽  
Neonatal Screening ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Cross Sectional

scholarly journals Universal screening for SARS-CoV-2 infection among pregnant women at Elmhurst Hospital Center, Queens, New York

PLoS ONE ◽  
2020 ◽  
Vol 15 (12) ◽  
pp. e0238409
Author(s):  
Sheela Maru ◽  
Uday Patil ◽  
Rachel Carroll-Bennett ◽  
Aaron Baum ◽  
Tracy Bohn-Hemmerdinger ◽  
...  
Keyword(s):  
New York ◽  
Pregnant Women ◽  
Universal Screening ◽  
Screening Program ◽  
Safety Net ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Cross Sectional ◽  
Percentage Points ◽  
Safety Net Hospital

Background Universal screening for SARS-CoV-2 infection on Labor and Delivery (L&D) units is a critical strategy to manage patient and health worker safety, especially in a vulnerable high-prevalence community. We describe the results of a SARS-CoV-2 universal screening program at the L&D Unit at Elmhurst Hospital in Queens, NY, a 545-bed public hospital serving a diverse, largely immigrant and low-income patient population and an epicenter of the global pandemic. Methods and findings We conducted a retrospective cross-sectional study. All pregnant women admitted to the L&D Unit of Elmhurst Hospital from March 29, 2020 to April 22, 2020 were included for analysis. The primary outcomes of the study were: (1) SARS-CoV-2 positivity among universally screened pregnant women, stratified by demographic characteristics, maternal comorbidities, and delivery outcomes; and (2) Symptomatic or asymptomatic presentation at the time of testing among SARS-CoV-2 positive women. A total of 126 obstetric patients were screened for SARS-CoV-2 between March 29 and April 22. Of these, 37% were positive. Of the women who tested positive, 72% were asymptomatic at the time of testing. Patients who tested positive for SARS-CoV-2 were more likely to be of Hispanic ethnicity (unadjusted difference 24.4 percentage points, CI 7.9, 41.0) and report their primary language as Spanish (unadjusted difference 32.9 percentage points, CI 15.8, 49.9) than patients who tested negative. Conclusions In this retrospective cross-sectional study of data from a universal SARS-Cov-2 screening program implemented in the L&D unit of a safety-net hospital in Queens, New York, we found over one-third of pregnant women testing positive, the majority of those asymptomatic. The rationale for universal screening at the L&D Unit at Elmhurst Hospital was to ensure safety of patients and staff during an acute surge in SARS-Cov-2 infections through appropriate identification and isolation of pregnant women with positive test results. Women were roomed by their SARS-CoV-2 status given increasing space limitations. In addition, postpartum counseling was tailored to infection status. We quickly established discharge counseling and follow-up protocols tailored to their specific social needs. The experience at Elmhurst Hospital is instructive for other L&D units serving vulnerable populations and for pandemic preparedness.

scholarly journals Morbidity as a Predictor for Participation in the Danish National Mammography Screening Program: A Cross-Sectional Study

2020 ◽  
Vol Volume 12 ◽  
pp. 509-518
Author(s):  
Jakob H Viuff ◽  
Ilse Vejborg ◽  
Walter Schwartz ◽  
Martin Bak ◽  
Ellen M Mikkelsen
Keyword(s):  
Mammography Screening ◽  
Screening Program ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Cross Sectional ◽  
Mammography Screening Program

scholarly journals Clinical and genetic characteristics of Dutch children with central congenital hypothyroidism, early detected by neonatal screening

2020 ◽  
Vol 183 (6) ◽  
pp. 627-636 ◽  
Author(s):  
J C Naafs ◽  
P H Verkerk ◽  
E Fliers ◽  
A S P van Trotsenburg ◽  
N Zwaveling-Soonawala
Keyword(s):  
Congenital Hypothyroidism ◽  
Neonatal Screening ◽  
Clinical Characteristics ◽  
Screening Program ◽  
Genetic Diagnosis ◽  
Cross Sectional Study ◽  
Pituitary Hormone ◽  
Cross Sectional ◽  
Genetic Characteristics ◽  
Dutch Children

Objective To evaluate clinical characteristics of patients with central congenital hypothyroidism (CH), detected in the Dutch neonatal screening program. This included patients with isolated central CH but the majority have multiple pituitary hormone deficiencies (MPHD). Design Nationwide, cross-sectional study. Methods Data was collected on clinical characteristics, endocrine tests and neuroimaging of central CH patients, detected by the Dutch neonatal screening and born between 1 January 1995 and 1 January 2015. Height and pubertal status were assessed during a study visit. Isolated central CH patients without a confirmed genetic diagnosis were offered genetic (re-)testing. Results During the 20-year period 154 central CH patients were detected (incidence of permanent central CH 1:25 642). After excluding deceased (15), severe syndromic (7) and transient patients (6), 92 of 126 eligible patients were included (57 MPHD; 79% male). Sixty-one patients (50 MPHD) had been hospitalized before screening results were reported, but central CH was diagnosed on clinical grounds in only three of them (5%). MRI abnormalities consistent with pituitary stalk interruption syndrome were seen in 50 (93%) MPHD patients. Among isolated central CH patients, 27 (84%) had an IGSF1, TBL1X or IRS4 gene variant (53, 16 and 16%, respectively). Conclusion Many patients with central CH have neonatal health problems, especially MPHD patients. Despite hospital admission of two-thirds of patients, almost none were diagnosed clinically, but only after the notification of an abnormal screening result was received. This indicates that central CH, especially if isolated, is an easily missed clinical diagnosis.

Point-of-care haemoglobin measurement in pooled capillary blood by a portable autoanalyser: comparison with venous blood haemoglobin measured by reference methods in cross-sectional and longitudinal studies

2021 ◽  
pp. 1-27
Author(s):  
Teena Dasi ◽  
Ravindranadh Palika ◽  
Raghu Pullakhandham ◽  
Little Flower Augustine ◽  
Naveen K. Boiroju ◽  
...  
Keyword(s):  
Longitudinal Study ◽  
Point Of Care ◽  
Venous Blood ◽  
Cross Sectional Study ◽  
Capillary Blood ◽  
Sectional Study ◽  
Limits Of Agreement ◽  
Cross Sectional ◽  
Reference Methods ◽  
Hb C

Abstract Population-based surveys commonly use point-of-care (POC) methods with capillary blood samples for estimating haemoglobin (Hb) concentrations; these estimates need to be validated by comparison with reference methods using venous blood. In a cross-sectional study in 748 participants (17-86y, 708 women, Hb: 5.1 to 18.2 g/dL) from Hyderabad, India, we validated Hb measured from a pooled capillary blood sample by a POC autoanalyser (Horiba ABX Micros 60OT, Hb-C-AA) by comparison with venous blood Hb measured by two reference methods: POC autoanalyser (Hb-V-AA) and cyanmethemoglobin method (Hb-V-CM). These comparisons also allowed estimation of blood sample related and equipment related differences in the Hb estimates. We also conducted a longitudinal study in 426 participants (17-21y) to measure differences in the Hb response to iron folate treatment by the capillary blood POC method compared to the reference methods. In the cross-sectional study, Bland Altman analyses showed trivial differences between source of blood (Hb-C-AA and Hb-V-AA; mean difference, limits of agreement: 0.1, -0.8 to 1.0 g/dL) and between analytical methods (Hb-V-AA and Hb-V-CM; mean difference, limits of agreement :< 0.1, −1.8 to 1.8 g/dL). Cross-sectional anaemia prevalence estimated using Hb-C-AA did not differ significantly from Hb-V-CM or Hb-V-AA. In the longitudinal study, the Hb increment in response to IFA intervention was not different when using Hb-C-AA (1.6 ± 1.7 g/dL) compared to Hb-V-AA (1.7± 1.7g/dL) and Hb-V-CM (1.7± 1.7 g/dL). The pooled capillary blood–autoanalyzer method (Hb-C-AA) offers a practical and accurate way forward for POC screening of anaemia.

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