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Background. Within the framework of the regional pilot project on selective exome screening of newborn children, which is carried out on the basis of the National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov, we conducted molecular genetic testing of children who meet the criteria for inclusion in the increased group of hereditary diseases. We examine not only children with suspected genetic etiology of the condition, but also children with borderline clinical and laboratory manifestations and minor developmental anomalies.The aim of the study. To describe the clinical and phenotypic features of a patient with a previously undescribed Xq12q13.2 duplication detected in the neonatal period.Materials and methods. The child was examined within the framework of a regional pilot project on selective exome screening of newborn children. DNA was isolated from a biological sample of venous blood of the newborn, and whole exome sequencing and chromosomal microarray analysis were performed. Signed informed voluntary consent for the publication of the examination data and a photograph of the child were obtained from the legal representatives of the proband.Results. Data in favor of the presence of a previously undescribed Xq12q13.2 duplication, confirmed by the reference method were obtained in a patient included in the project in accordance with the clinical criteria for the formation of a risk group according to the data of the conducted whole exome sequencing. Discussion. Xq12q13.2 duplication was detected in the proband from the present clinical observation with non-specific clinical manifestations in the neonatal period. Similar duplications have been described in the literature in three patients with congenital malformations, epilepsy and psychomotor retardation. Early diagnosis of such a copy number variation disorder before the appearance of severe clinical signs of the disease will allow determining the prognosis and tactics of observation and treatment of the patient.Conclusion. The described case of Xq12q13.2 duplication in a patient demonstrates the importance of timely genetic analysis to optimize medical genetic counseling, reduce diagnostic search and improve prognosis for patients.

Vincent Abindu,1 Derick Hope,2 Mary Aleni,1 Monicah Andru,1 Richard Mangwi Ayiasi,3 Victor Afayo,4 Caesar Oyet,5 Ritah Kiconco6,7 1Department of Nursing and Midwifery - Faculty of Health Sciences, Muni University, Arua, West Nile, Uganda; 2Department of Medical Laboratory Science - Faculty of Health Sciences, Muni University, Arua, West Nile, Uganda; 3Department of Public Health - Faculty of Health Sciences, Muni University, Arua, West Nile, Uganda; 4Department of Obstetrics and Gynaecology, Arua Regional Referral Hospital, Arua, West Nile, Uganda; 5Department of Medical Laboratory Science - Faculty of Health Sciences, Clark International University, Kampala, Central, Uganda; 6Department of Clinical Biochemistry - Faculty of Health Sciences, Soroti University, Soroti, Teso, Uganda; 7Department of Medical Laboratory Sciences - Faculty of Medicine, Mbarara University of Science and Technology, Mbarara, Southwestern, UgandaCorrespondence: Derick Hope, Department of Medical Laboratory Science - Faculty of Health Sciences, Muni University, Arua, West Nile, Uganda, Tel +256 772832320, Fax +256 476 420316, Email derhoh@ymail.comPurpose: To ascertain the prevalence and risk factors of gestational diabetes mellitus (GDM) in pregnant women receiving antenatal care (ANC) services within the West Nile subregion of Uganda.Patients and Methods: An analytical cross-sectional study was conducted on 233 pregnant women who are within 24– 28 weeks of gestation and are receiving ANC services in selected hospitals. GDM was diagnosed according to the World Health Organization (WHO) criteria (2013). A questionnaire and anthropometric measurements were used to obtain relevant data. The chi-square test and logistic regression were used to determine the association between GDM and the study variables, including participants’ sociodemographic and medical characteristics.Results: The prevalence of hyperglycemia first detected in pregnancy among the participants tested was 8%. Overall, 7.45% had GDM and 0.53% had diabetes mellitus in pregnancy. The fasting plasma glucose test alone was positive in 86.7% of the GDM cases. The factors that were significantly associated with GDM included age ≥ 25 years (p = 0.017, AOR = 3.51) and body mass index (BMI) ≥ 25 kg/m2 (p = 0.024, AOR = 2.67). Out of the participants diagnosed with GDM, 28.6% did not have a known risk factor. Of the pregnant women with GDM, 57% would have been missed if the selective screening in the national clinical guidelines had been followed. Urinary tract infection (UTI) and Candida were detected in 36.36% and 13.85% of the participants, respectively.Conclusion: The study provides new data on the prevalence of GDM in rural settings in the West Nile subregion of Uganda. Of the participants, 7.5% were diagnosed with GDM, of which 57% would have been missed based on the selective screening of the national clinical guidelines. The study findings support the universal screening of GDM in pregnant women.Keywords: prevalence, gestational diabetes mellitus, risk factors, selective screening

Data on the prevalence of most inborn errors of metabolism are still unavailable in Kazakhstan. The study aims to perform selective screening for hereditary metabolic diseases among patients aged from 1 day to 18 years in western Kazakhstan using the LC-MS/MS method, with establishing the reference values for the content of amino acids, acylcarnitines, and succinylacetone in blood samples of healthy children. Tasks: 1. To assess the burden of metabolic disorders detected by LC-MS/MS in western Kazakhstan by examination of children at clinical risk in pediatric clinics throughout the region; https://www. frontiersin.org/register?returnUrl=https://loop.frontiersin.org 2. To set the reference values of metabolites in the child population; 3. To analyze the age distribution, prevalence, and age of onset for each identified IEM, further comparing the obtained findings with those from previously published reports in other populations. Methods: To set the reference values of 51 metabolites in the child population, 750 healthy children will be included. The selective screening will be performed among 1,500 patients aged 1 day to 18 years with suspected hereditary metabolic disorders. Anticipated results: The results of selective screening will be interpreted by comparison with the reference values established. Diagnosis will be based on clinical signs, blood levels of amino acids, acylcarnitines, succinylacetone, and urine levels of organic acids and tests for gene mutations. An assessment of 37 inborn errors of metabolism frequencies in high-risk children will be performed. The research will further develop the national as selective as expanded newborn screening programs. The study was registered in clinicaltrials. gov (https://www.clinicaltrials.gov/study/NCT05910151) on 16 June 2023. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Selective screening for inherited metabolic disorders (IMD) began in Cyprus in 1990. Over the last thirty-three years 7388 patients were investigated for IMD and 200 diagnoses were made (diagnostic yield 2.7%). The existence of a single laboratory of Biochemical Genetics for the whole island facilitated the creation of a national registry for IMD. The minimal prevalence of IMD in Cyprus is 53.3 cases per 100,000 live births. The most common group are disorders of amino acid metabolism (41.0%), followed by disorders of carbohydrate metabolism (16.5%), disorders of complex molecule degradation (16.5%), mitochondrial disorders (10.5%) and disorders of vitamin and co-factor metabolism (5.5%). Hyperphenylalaninaemia is the most common IMD (14.0%) followed by galactosaemia (7.0%), glutaric aciduria type I (5.5%) and MSUD (4.0%). Some disorders were found to have a relatively high incidence in specific communities, for example Sandhoff disease among the Cypriot Maronites and GM1 gangliosidosis in one particular area of the island. Other disorders were found to have a relatively higher overall incidence, compared to other Caucasian populations, for example galactosaemia, glutaric aciduria type I and MSUD, while fatty acid oxidation defects, Gaucher disease and classic PKU were found to have a relatively lower incidence. Molecular characterization of selected disorders revealed many novel genetic variants, specific to the Cypriot population.

Aims: Developmental dysplasia of the hip (DDH) can be managed effectively with non-surgical interventions when diagnosed early. However, the likelihood of surgical intervention increases with a late presentation. Therefore, an effective screening programme is essential to prevent late diagnosis and reduce surgical morbidity in the population. Methods: We conducted a systematic review and meta-analysis of the epidemiological literature from the last 25 years in the UK. Articles were selected from databases searches using MEDLINE, EMBASE, OVID, and Cochrane; 13 papers met the inclusion criteria. Results: The incidence of DDH within the UK over the last 25 years is 7.3/1,000 live births with females making up 86% of the DDH population (odds ratio 6.14 (95% confidence interval 3.3 to 11.5); p < 0.001). The incidence of DDH significantly increased following the change in the Newborn and Infant Physical Examination (NIPE) guidance from 6.5/1,000 to 9.4/1,000 live births (p < 0.001). The rate of late presentation also increased following the changes to the NIPE guidance, rising from 0.7/1,000 to 1.2/1,000 live births (p < 0.001). However, despite this increase in late-presenting cases, there was no change in the rates of surgical intervention (0.8/1,000 live births; p = 0.940). Conclusion: The literature demonstrates that the implementation of a selective screening programme increased the incidence of DDH diagnosis in the UK while subsequently increasing the rates of late presentation and failing in its goal of reducing the rates of surgical intervention for DDH. Cite this article: Bone Jt Open 2023;4(8):635–642.

Data on the prevalence of most inborn errors of metabolism are still unavailable in Kazakhstan. The study aims to perform selective screening for hereditary metabolic diseases among patients aged from 1 day to 18 years in western Kazakhstan using the LC-MS/MS method, with establishing the reference values for the content of amino acids, acylcarnitines, and succinylacetone in blood samples of healthy children. Tasks: 1. To assess the burden of metabolic disorders detected by LC-MS/MS in western Kazakhstan by examination of children at clinical risk in pediatric clinics throughout the region; https://www.frontiersin.org/register?returnUrl=https://loop.frontiersin.org 2. To set the reference values of metabolites in the child population; 3. To analyze the age distribution, prevalence, and age of onset for each identified IEM, further comparing the obtained findings with those from previously published reports in other populations. Methods: To set the reference values of 51 metabolites in the child population, 750 healthy children will be included. The selective screening will be performed among 1,500 patients aged 1 day to 18 years with suspected hereditary metabolic disorders. Anticipated results: The results of selective screening will be interpreted by comparison with the reference values established. Diagnosis will be based on clinical signs, blood levels of amino acids, acylcarnitines, succinylacetone, and urine levels of organic acids and tests for gene mutations. An assessment of 37 inborn errors of metabolism frequencies in high-risk children will be performed. The research will further develop the national as selective as expanded newborn screening programs. The study was registered in clinicaltrials. gov (https://www.clinicaltrials.gov/study/NCT05910151) on 16 June 2023.

Background: Fabry disease (FD) is a rare hereditary multisystem disease caused by variants of the GLA gene. Determination of GLA gene variants and identification of genotype–phenotype correlations allow us to explain the features of FD associated with predominant damage of one or another system, both in the classical and atypical forms of FD, as well as in cases with late manifestation and involvement of one of the systems. Methods: The study included 293 Russian patients with pathogenic variants of the GLA gene, which were identified as a result of various selective screening programs. Screening was carried out for 48,428 high-risk patients using a two-step diagnostic algorithm, including the determination of the concentration of the biomarker lyso-Gb3 as a first-tier test. Screening of atypical FD among patients with HCM was carried out via high-throughput sequencing in another 2427 patients. Results: 102 (0.20%) cases of FD were identified among unrelated patients as a result of the study of 50,855 patients. Molecular genetic testing allowed us to reveal the spectrum and frequencies of 104 different pathogenic variants of the GLA gene in 293 examined patients from 133 families. The spectrum and frequencies of clinical manifestations in patients with FD, including 20 pediatric patients, were described. Correlations between the concentration of the lyso-Gb3 biomarker and the type of pathogenic variants of the GLA gene have been established. Variants identified in patients with early stroke were described, and the association of certain variants with the development of stroke was established. Conclusions: The results of a large-scale selective FD screening, as well as clinical and molecular genetic features, in a cohort of 293 Russian patients with FD are described. [ABSTRACT FROM AUTHOR]

In order to enhance cost-benefit value of the gestational diabetes mellitus screening (GDM) the concept of universal screening i.e., screening of all pregnant women for gestational diabetes, has mostly been abandoned in favor of the concept of selective screening. Selective screening implies that only women with risk factors are being screened for GDM. However, some recent studies have shown that with the application of the selective screening approach, some women with GDM may not receive proper and timely diagnosis. This review addresses the pros and cons of both concepts. It will also discuss screening methods and methods of preparation and performance of oral glucose tolerance test and the interpretation of its results.

Abstract Background There is a vast number of screening studies described in the literature from the beginning of the twenty-first century to the present day. Many of these studies are related to the estimation of Fabry disease (FD) morbidity among patients from high-risk groups, including adult patients with hypertrophic cardiomyopathy (HCM) and left ventricular hypertrophy (LVH). These studies show diverse detection frequencies (0–12%) depending on the methodology. Our study is the only example of large-scale selective FD screening based on the implementation of next-generation sequencing technology (NGS) as a first-level test to estimate FD morbidity in the Russian population over 18 years of age burdened with HCM. Methods The study included 1009 patients (578 males and 431 females), with a median age of 50 years, who were diagnosed with HCM according to current clinical guidelines. In the first stage of screening, all patients underwent molecular genetic testing (NGS method) of target regions. These regions included the coding sequences of 17 genes and mutations that can lead to the development of HCM. Lysosomal globotriaosylsphingosine (lyso-Gb3) concentrations and α-galactosidase A (α-gal A) enzyme activity were measured in the second stage of screening to reveal pathogenic or likely pathogenic variants in the GLA gene. Results We revealed 8 (0.8%) patients (3 (37.5%) males and 5 (62.5%) females) with an average age of 59 ± 13.3 years who had pathogenic, likely pathogenic variants and variants of uncertain significance (VUS) in the GLA gene (NM_000169.2) as a result of selective screening of 1009 Russian patients with HCM. FD was confirmed via biochemical tests in a male with the pathogenic variant c.902G > A, p.R301Q as well as in two females with likely pathogenic variants c.897C > A, p.D299E and c.1287_1288dup, p.*430Fext*?. These tests showed reduced enzymatic activity and increased substrate concentration. However, a female with the pathogenic variant c.416A > G, p.N139S and with normal enzymatic activity only had increased substrate concentrations. The revealed nucleotide variants and high values of biochemical indicators (lyso-Gb3) in these 4 patients allowed us to estimate the FD diagnosis among 1009 Russian patients with HCM. Mild extracardiac manifestations were observed in these four patients; however, both biochemical values within the reference range in females with the c.971T > G, p.L324W (VUS) variant. α-gal A activity and lyso-Gb3 concentrations were also within the normal range in two males with hemizygous variants, c.546T > C, p.D182D and c.640-794_640-791del (we regarded them as VUS), and in one female with the c.427G > A, p.A143T variant (with conflicting interpretations of pathogenicity). Conclusion The prevalence rate of FD among 1,009 adult Russian patients with HCM was 0.4%. We recommend FD screening among adult patients of both sexes with HCM and an undefined genetic cause via NGS method with subsequent analysis of α-gal A activity and lyso-Gb3 concentration in patients with pathogenic, likely pathogenic variants, and VUS. This strategy identifies patients with an atypical form of FD that is characterized by high residual activity of α-gal A, low concentrations of lyso-Gb3, and minor extracardiac manifestations.

The increasing number of terrorist attacks within the last decade has demonstrated that taking preventive protective measures is highly important. In addition to existing measures, automated detection systems for fast and reliable explosive detection are required. A sensitive spectroscopic system based on mid-infrared spectroscopy has been developed and applied to explosive samples on different types of fabric under various geometric conditions. Using this system, traces of TNT, RDX, PETN and ammonium nitrate can be detected in less than a second. Various approaches for data pretreatment (wavelength calibration) and subsequent analysis (normalization, removal of atmospheric water absorption lines) are presented and the remaining challenges on the road to a fully automated system, including a robust classification algorithm, are discussed. [ABSTRACT FROM AUTHOR]

Abstract Aim To compare universal screening with selective risk factor based screening for GDM, using the one-step 75 g oral glucose tolerance test (OGTT). Materials and method A cross-sectional, comparison between universal and selective risk factor based screening for GDM, among 400 antenatal care clients at Alex-Ekwueme Federal University Teaching Hospital Abakaliki (AE-FUTHA). All the participants had 75 g OGTT at 24–28 weeks of gestation and risk factor screening for GDM. All 400 participants formed the universal group while participants with one or more of the considered risk factors formed the selective risk factor group. Data were analyzed using IBM SPSS version 20. Statistical comparison was done using t- test for continuous variables. Logistics regression was used to determine the level of associations of the independent predictors for hyperglycemia. Level of significance was set at P

Abstract Background Improvement in the accuracy of identifying women who are at risk to develop gestational diabetes mellitus (GDM) is warranted, since timely diagnosis and treatment improves the outcomes of this common pregnancy disorder. Although prognostic models for GDM are externally validated and outperform current risk factor based selective approaches, there is little known about the impact of such models in day-to-day obstetric care. Methods A prognostic model was implemented as a directive clinical prediction rule, classifying women as low- or high-risk for GDM, with subsequent distinctive care pathways including selective midpregnancy testing for GDM in high-risk women in a prospective multicenter birth cohort comprising 1073 pregnant women without pre-existing diabetes and 60 obstetric healthcare professionals included in nine independent midwifery practices and three hospitals in the Netherlands (effectiveness-implementation hybrid type 2 study). Model performance (c-statistic) and implementation outcomes (acceptability, adoption, appropriateness, feasibility, fidelity, penetration, sustainability) were evaluated after 6 months by indicators and implementation instruments (NoMAD; MIDI). Results The adherence to the prognostic model (c-statistic 0.85 (95%CI 0.81–0.90)) was 95% (n = 1021). Healthcare professionals scored 3.7 (IQR 3.3–4.0) on implementation instruments on a 5-point Likert scale. Important facilitators were knowledge, willingness and confidence to use the model, client cooperation and opportunities for reconfiguration. Identified barriers mostly related to operational and organizational issues. Regardless of risk-status, pregnant women appreciated first-trimester information on GDM risk-status and lifestyle advice to achieve risk reduction, respectively 89% (n = 556) and 90% (n = 564)). Conclusions The prognostic model was successfully implemented and well received by healthcare professionals and pregnant women. Prognostic models should be recommended for adoption in guidelines.

Background: There is a vast number of screening studies described in the literature from the beginning of the twenty-first century to the present day. Many of these studies are related to the estimation of Fabry disease (FD) morbidity among patients from high-risk groups, including adult patients with hypertrophic cardiomyopathy (HCM) and left ventricular hypertrophy (LVH). These studies show diverse detection frequencies (0-12%) depending on the methodology. Our study is the only example of large-scale selective FD screening based on the implementation of next-generation sequencing technology (NGS) as a first-level test to estimate FD morbidity in the Russian population over 18 years of age burdened with HCM.Methods: The study included 1009 patients (578 males and 431 females), with a median age of 50 years, who were diagnosed with HCM according to current clinical guidelines. In the first stage of screening, all patients underwent molecular genetic testing (NGS method) of target regions. These regions included the coding sequences of 17 genes and mutations that can lead to the development of HCM. Lysosomal globotriaosylsphingosine (lyso-Gb3) concentrations and α-galactosidase A (α-gal A) enzyme activity were measured in the second stage of screening to reveal pathogenic or likely pathogenic variants in the GLA gene.Results: We revealed 8 (0.8%) patients (3 (37.5%) males and 5 (62.5%) females) with an average age of 59 ± 13.3 years who had pathogenic, likely pathogenic variants and variants of uncertain significance (VUS) in the GLA gene (NM_000169.2) as a result of selective screening of 1009 Russian patients with HCM. FD was confirmed via biochemical tests in a male with the pathogenic variant c.902G > A, p.R301Q as well as in two females with likely pathogenic variants c.897C > A, p.D299E and c.1287_1288dup, p.*430Fext*?. These tests showed reduced enzymatic activity and increased substrate concentration. However, a female with the pathogenic variant c.416A > G, p.N139S and with normal enzymatic activity only had increased substrate concentrations. The revealed nucleotide variants and high values of biochemical indicators (lyso-Gb3) in these 4 patients allowed us to estimate the FD diagnosis among 1009 Russian patients with HCM. Mild extracardiac manifestations were observed in these four patients; however, both biochemical values within the reference range in females with the c.971T > G, p.L324W (VUS) variant. α-gal A activity and lyso-Gb3 concentrations were also within the normal range in two males with hemizygous variants, c.546T > C, p.D182D and c.640-794_640-791del (we regarded them as VUS), and in one female with the c.427G > A, p.A143T variant (with conflicting interpretations of pathogenicity).Conclusion: The prevalence rate of FD among 1,009 adult Russian patients with HCM was 0.4%. We recommend FD screening among adult patients of both sexes with HCM and an undefined genetic cause via NGS method with subsequent analysis of α-gal A activity and lyso-Gb3 concentration in patients with pathogenic, likely pathogenic variants, and VUS. This strategy identifies patients with an atypical form of FD that is characterized by high residual activity of α-gal A, low concentrations of lyso-Gb3, and minor extracardiac manifestations. [ABSTRACT FROM AUTHOR]

Nephropathic cystinosis is a rare autosomal recessive disorder characterized by amino acid cystine accumulation and caused by biallelic mutations in the CTNS gene. The analysis methods are as follows: tandem mass spectrometry to determine the cystine concentration in polymorphonuclear blood leukocytes, Sanger sequencing for the entire coding sequence and flanking intron regions of the CTNS gene, multiplex PCR to detect a common mutation—a 57 kb deletion, and multiplex ligation-dependent probe amplification to analyze the number of exon copies in the CTNS gene. Haplotype analysis of chromosomes with major mutations was carried out using microsatellite markers D17S831, D17S1798, D17S829, D17S1828, and D17S1876. In this study, we provide clinical, biochemical, and molecular genetic characteristics of 40 Russian patients with mutations in the CTNS gene, among whom 30 patients were selected from a high-risk group of 85 people as a result of selective screening, which was carried out through cystine concentration measurement in polymorphonuclear blood leukocytes. The most common pathogenic variant, as in most described studies to date, was the 57 kb deletion, which represented 25% of all affected alleles. Previously non-described variants represented 22.5% of alleles. The founder effect in the Karachay and Chechen ethnic groups was shown for the following major variants: c.1015G > A and c.518A > G. [ABSTRACT FROM AUTHOR]

Summary: A recent report on screening in the UK proposed that the responsibility for recommendations on population and targeted screening programmes should be held by one new integrated advisory body. There is no wide international consensus on the definition of targeted screening. Our review identified and compared the defining components of screening terms: targeted, population, selective, and cascade screening, and case finding. Definitions of targeted screening and population screening were clearly demarcated by the eligible population; targeted and selective screening were found to be conceptually interchangeable; cascade screening, whilst conceptually similar to targeted screening across several components, was only used within the context of genetic diseases. There was little consensus between different definitions of case finding. These comparisons contributed to an updated definition of targeted screening. Considerable overlap between definition components across terms implies that a broad range of disease areas may fall into the remit of the new advisory body.

Nephropathic cystinosis is a rare autosomal recessive disorder characterized by amino acid cystine accumulation and caused by biallelic mutations in the CTNS gene. The analysis methods are as follows: tandem mass spectrometry to determine the cystine concentration in polymorphonuclear blood leukocytes, Sanger sequencing for the entire coding sequence and flanking intron regions of the CTNS gene, multiplex PCR to detect a common mutation—a 57 kb deletion, and multiplex ligation-dependent probe amplification to analyze the number of exon copies in the CTNS gene. Haplotype analysis of chromosomes with major mutations was carried out using microsatellite markers D17S831, D17S1798, D17S829, D17S1828, and D17S1876. In this study, we provide clinical, biochemical, and molecular genetic characteristics of 40 Russian patients with mutations in the CTNS gene, among whom 30 patients were selected from a high-risk group of 85 people as a result of selective screening, which was carried out through cystine concentration measurement in polymorphonuclear blood leukocytes. The most common pathogenic variant, as in most described studies to date, was the 57 kb deletion, which represented 25% of all affected alleles. Previously non-described variants represented 22.5% of alleles. The founder effect in the Karachay and Chechen ethnic groups was shown for the following major variants: c.1015G > A and c.518A > G.

Inborn errors of metabolism (IEMs) comprise a group of inherited diseases that can have devastating consequences and cause irreversible damage to different body systems and even lead to death. Newborn screening helps in the presymptomatic diagnosis of many medical disorders including IEMs. Early diagnosis and management of IEMs helps reduce morbidity and mortality. This study aimed to estimate the prevalence of IEMs among at-risk children and contribute toward early diagnosis and management in order to minimize morbidity and mortality. This prospective study was conducted at the Pediatrics and Neonatology Department, Sohag University Hospital, Egypt. The study enrolled 308 participants suspected of having IEMs. Cases were included based on the presence of any of the following: unexplained convulsions, persistent metabolic acidosis, persistent hypoglycemia, disturbed consciousness, delayed milestones, or family history of previous sibling death with IEMs or sibling death with a history suggestive of IEMs. All participants in the study were subjected to metabolic screening by tandem mass spectrometry (MS/MS). Out of 308 neonates, 93 (30.2%) were diagnosed with IEMs. The most common diagnosis was phenylketonuria, followed by glutaric aciduria type 1 and maple syrup urine disease (43%, 19.4%, and 14%, respectively). Five patients had Canavan disease, four had medium-chain acyl CoA dehydrogenase deficiency, three had congenital lactic acidosis, two had methylmalonic acidemia, and two had primary carnitine deficiency. Propionic acidemia, isovaleric acidemia, homocystinuria, short-chain acyl CoA dehydrogenase deficiency, B-ketothiolase deficiency, and ketone body utilization defect were diagnosed in one patient each. Most patients improved (73.1%) following proper specific management. We recommend newborn screening for IEMs using MS/MS, which may help with the early diagnosis and management of this group of disorders. [ABSTRACT FROM AUTHOR]

Developmental dysplasia of the hip (DDH) is the most common musculoskeletal disease in infants, and delayed diagnosis can worsen the prognosis. Clinical evidence increasingly supports universal ultrasound (US) screening over selective US screening. The Graf method remains the most widely accepted US technique. Performing an US screening at one month of age seems appropriate as it allows for some hip maturity and early detection, thereby increasing the chances of a favorable outcome. This paper presents an approach to US findings based on the femoral head coverage method. Considering the long-term cost and psychosocial impact of missed DDH cases, universal ultrasound screening appears to be a cost-effective alternative., Competing Interests: The author declares no conflict of interest., (© 2024 The Author(s).)

Aim: To compare universal screening with selective risk factor based screening for GDM, using the one-step 75 g oral glucose tolerance test (OGTT).Materials and Method: A cross-sectional, comparison between universal and selective risk factor based screening for GDM, among 400 antenatal care clients at Alex-Ekwueme Federal University Teaching Hospital Abakaliki (AE-FUTHA). All the participants had 75 g OGTT at 24-28 weeks of gestation and risk factor screening for GDM. All 400 participants formed the universal group while participants with one or more of the considered risk factors formed the selective risk factor group. Data were analyzed using IBM SPSS version 20. Statistical comparison was done using t- test for continuous variables. Logistics regression was used to determine the level of associations of the independent predictors for hyperglycemia. Level of significance was set at P < 0.05.Results: The point prevalence of GDM using universal and selective screening were 11.51 and 7.93% respectively, giving a selective screening miss rate of 31.11%. The sensitivity, specificity, positive predictive value and negative predictive value were 73.58, 48.82, 19.12 and 92.51% respectively for the selective risk factor based screening compared to universal screening. On multivariate analysis; age ≥ 35 years, weight ≥ 90 kg, history of previous GDM and hypertension were significantly related to the development of hyperglycemia.Conclusion: Selective risk factor based screening missed 31.11% of patients with GDM when compare to Universal screening with one step 75 g OGTT. Universal screening for GDM using the one step 75 g OGTT is recommended for pregnant women and more studies are needed to compare pregnancy outcomes for pregnant women diagnosed with GDM with and without risk factors. [ABSTRACT FROM AUTHOR]

The increasing number of terrorist attacks within the last decade has demonstrated that taking preventive protective measures is highly important. In addition to existing measures, automated detection systems for fast and reliable explosive detection are required. A sensitive spectroscopic system based on mid-infrared spectroscopy has been developed and applied to explosive samples on different types of fabric under various geometric conditions. Using this system, traces of TNT, RDX, PETN and ammonium nitrate can be detected in less than a second. Various approaches for data pretreatment (wavelength calibration) and subsequent analysis (normalization, removal of atmospheric water absorption lines) are presented and the remaining challenges on the road to a fully automated system, including a robust classification algorithm, are discussed.

Abstract Background Familial hypercholesterolemia (FH), the most frequent monogenetic hereditary disorder, is underdiagnosed and undertreated. Early identification of FH is essential because of the increased risk for premature cardiovascular diseases and childhood might be the optimal period for cholesterol screening. Aim of this selective screening was to detect familial hypercholesterolemia, the most frequent monogenetic hereditary disorder in children to guarantee early detection and treatment. The Austrian strategy for primary schools, to perform a pre-school examination by school physicians, allows to reach all children aged 5–7 years. Methods The screening was conducted within the school enrolment examinations in all 215 public primary schools in Vienna between January to May 2017. Positive cholesterol screening was defined by non-HDL-C > 160 mg/dL and/or LDL-C > 130 mg/dL. Results In total, 18,152 children had their school enrolment examination. From 133 tested pre-school children, nine individuals were positive-screened with a mean LDL-C of 161 ± 26 mg/dL, non-HDL-C of 181 ± 24 mg/dL and total cholesterol (TC) of 239 ± 23 mg/dL. From 85 siblings, four individuals were positively screened with a mean LDL-C of 150 ± 7 mg/dL, non-HDL-C of 184 ± 8 mg/dL and TC of 231 ± 10 mg/dL. Patients did not have any xanthomas, xanthelasms, arcus lipoides, or any cardiovascular comorbidities. Conclusions Screening at early childhood by school physicians seems to be a successful strategy and possible. With this Austrian selective screening method, FH Kids Austria, we could find nine patients with positive raised level LDL-cholesterol and/or non-HDL cholesterol out of 133 blood tests. Prevention of cardiovascular diseases is essential and it is our duty to increase the awareness of this disease. Limitations of the FH Kids project were reduced participation of school physicians and refusal of the parents.

Background: Improvement in the accuracy of identifying women who are at risk to develop gestational diabetes mellitus (GDM) is warranted, since timely diagnosis and treatment improves the outcomes of this common pregnancy disorder. Although prognostic models for GDM are externally validated and outperform current risk factor based selective approaches, there is little known about the impact of such models in day-to-day obstetric care.Methods: A prognostic model was implemented as a directive clinical prediction rule, classifying women as low- or high-risk for GDM, with subsequent distinctive care pathways including selective midpregnancy testing for GDM in high-risk women in a prospective multicenter birth cohort comprising 1073 pregnant women without pre-existing diabetes and 60 obstetric healthcare professionals included in nine independent midwifery practices and three hospitals in the Netherlands (effectiveness-implementation hybrid type 2 study). Model performance (c-statistic) and implementation outcomes (acceptability, adoption, appropriateness, feasibility, fidelity, penetration, sustainability) were evaluated after 6 months by indicators and implementation instruments (NoMAD; MIDI).Results: The adherence to the prognostic model (c-statistic 0.85 (95%CI 0.81-0.90)) was 95% (n = 1021). Healthcare professionals scored 3.7 (IQR 3.3-4.0) on implementation instruments on a 5-point Likert scale. Important facilitators were knowledge, willingness and confidence to use the model, client cooperation and opportunities for reconfiguration. Identified barriers mostly related to operational and organizational issues. Regardless of risk-status, pregnant women appreciated first-trimester information on GDM risk-status and lifestyle advice to achieve risk reduction, respectively 89% (n = 556) and 90% (n = 564)).Conclusions: The prognostic model was successfully implemented and well received by healthcare professionals and pregnant women. Prognostic models should be recommended for adoption in guidelines. [ABSTRACT FROM AUTHOR]

Selective screening for inherited metabolic disorders (IMD) began in Cyprus in 1990. Over the last thirty-three years 7388 patients were investigated for IMD and 200 diagnoses were made (diagnostic yield 2.7%). The existence of a single laboratory of Biochemical Genetics for the whole island facilitated the creation of a national registry for IMD. The minimal prevalence of IMD in Cyprus is 53.3 cases per 100,000 live births. The most common group are disorders of amino acid metabolism (41.0%), followed by disorders of carbohydrate metabolism (16.5%), disorders of complex molecule degradation (16.5%), mitochondrial disorders (10.5%) and disorders of vitamin and co-factor metabolism (5.5%). Hyperphenylalaninaemia is the most common IMD (14.0%) followed by galactosaemia (7.0%), glutaric aciduria type I (5.5%) and MSUD (4.0%). Some disorders were found to have a relatively high incidence in specific communities, for example Sandhoff disease among the Cypriot Maronites and GM1 gangliosidosis in one particular area of the island. Other disorders were found to have a relatively higher overall incidence, compared to other Caucasian populations, for example galactosaemia, glutaric aciduria type I and MSUD, while fatty acid oxidation defects, Gaucher disease and classic PKU were found to have a relatively lower incidence. Molecular characterization of selected disorders revealed many novel genetic variants, specific to the Cypriot population., Competing Interests: None., (© 2024 The Authors. Published by Elsevier Inc.)

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Abstract Organic acidurias and aminoacidopathies are groups of frequent inborn errors of metabolism (IEMs), which are caused by mutations in specific genes that lead to loss of protein/enzyme or transport function with important deleterious effects to cell metabolism. Since a considerable number of such disorders are potentially treatable when diagnosed at an early stage of life, diagnosis is crucial for the patients. In the present report, we describe symptomatic individuals referred to our service that were diagnosed with these disorders from 2006 to 2016. We used blood and urine samples from 21,800 patients suspected of aminoacidopathies or organic acidemias that were processed by the analytical techniques reverse phase high-performance liquid chromatography for amino acid quantification and gas chromatography coupled to mass spectrometry for organic acid detection. Analysis of dried blood spots by liquid chromatography-tandem mass spectrometry was used in some cases. We detected 258 cases of organic acidurias, and 117 patients with aminoacidopathies were diagnosed. Once diagnosis was performed, patients were promptly submitted to the available treatments with clear reduction of mortality and morbidity. The obtained data may help pediatricians and metabolic geneticists to become aware of these diseases and possibly expand newborn screening programs in the future.

In this work, by adopting polyethyleneimine functionalized multi-walled carbon nanotubes as the absorbent, a solid phase extraction based method for fast and selective screening of carboxylic acid compounds was developed. The structure and morphology of the polyethyleneimine functionalized multi-walled carbon nanotubes were confirmed via scanning electron micrograph, transmission electron microscopy, Fourier transform infrared spectra and X-ray photoelectron spectroscopy. And the proposed approach was successfully applied to screen carboxylic compounds from the crude extract of Perilla frutescens. As a result, seven polyhydric compounds with carboxyl including caffeic acid, luteolin-7-O-diglucuronide, apigenin-7-O-diglucuronide, sagerinic acid, scutellarein-7-O-glucuronide, rosmarinic acid, and apigenin-7-O-glucuronide were favorably screened out from compounds without carboxyl group. Similar screening results were also obtained via generalizing the method to the crude extract of Chrysanthemum. This strategy could serve as a rapid and efficient pathway for preliminary screening of certain types of compounds from complex natural products. [ABSTRACT FROM AUTHOR]

Background: Familial hypercholesterolemia (FH), the most frequent monogenetic hereditary disorder, is underdiagnosed and undertreated. Early identification of FH is essential because of the increased risk for premature cardiovascular diseases and childhood might be the optimal period for cholesterol screening. Aim of this selective screening was to detect familial hypercholesterolemia, the most frequent monogenetic hereditary disorder in children to guarantee early detection and treatment. The Austrian strategy for primary schools, to perform a pre-school examination by school physicians, allows to reach all children aged 5-7 years.Methods: The screening was conducted within the school enrolment examinations in all 215 public primary schools in Vienna between January to May 2017. Positive cholesterol screening was defined by non-HDL-C > 160 mg/dL and/or LDL-C > 130 mg/dL.Results: In total, 18,152 children had their school enrolment examination. From 133 tested pre-school children, nine individuals were positive-screened with a mean LDL-C of 161 ± 26 mg/dL, non-HDL-C of 181 ± 24 mg/dL and total cholesterol (TC) of 239 ± 23 mg/dL. From 85 siblings, four individuals were positively screened with a mean LDL-C of 150 ± 7 mg/dL, non-HDL-C of 184 ± 8 mg/dL and TC of 231 ± 10 mg/dL. Patients did not have any xanthomas, xanthelasms, arcus lipoides, or any cardiovascular comorbidities.Conclusions: Screening at early childhood by school physicians seems to be a successful strategy and possible. With this Austrian selective screening method, FH Kids Austria, we could find nine patients with positive raised level LDL-cholesterol and/or non-HDL cholesterol out of 133 blood tests. Prevention of cardiovascular diseases is essential and it is our duty to increase the awareness of this disease. Limitations of the FH Kids project were reduced participation of school physicians and refusal of the parents. [ABSTRACT FROM AUTHOR]

Individuals with significant asymptomatic carotid artery stenosis (ACAS) and atrial fibrillation (AF) could benefit from specific interventions to prevent heart attack and stroke, but are often clinically 'silent'. We aimed to determine detection rate of ACAS and AF by screening, targeting a population at increased cardiovascular risk. Data on adults who attended voluntary and self-funded commercial screening clinics in the United States or the United Kingdom between 2008 and 2013 were used. The Atherosclerotic Cardiovascular Disease (ASCVD) risk equation was applied to each participants and detection rates of targeted screening for ≥50% ACAS and AF to those at highest risk of CVD was assessed. Among 0.4 million individuals between 40 and 80 years, without CVD, 6191 (1.6%) had ACAS and 1026 (0.3%) had AF. Selective screening of participants with a predicted 10-year CVD risk of ≥20% identified 40% of ACAS cases, a prevalence of 3.7%, leading to a number needed to screen (NNS) of 27, as well as 39% of AF cases, a prevalence of 0.6%, with a NNS of 170. Selective screening of those with a predicted 10-year CVD risk of ≥15% identified 54% of ACAS cases, a prevalence of 3.3%, and an NNS of 31, as well as 51% of AF cases, a prevalence of 0.5%, with an NNS of 195. Selective screening for ACAS and AF implemented in ASCVD risk assessment greatly reduces the NNS when compared with population-level screening with detection rates of ACAS and AF substantially greater in people at higher predicted CVD risk. • Early detection of ACAS and AF could allow effective primary prevention. • Population-level screening results in a high number needed to screen, and is not recommended. • Selective screening, based on ASCVD scores halves the NNS, allowing targeted screening. [ABSTRACT FROM AUTHOR]

Background: Inborn errors of metabolism (IEM) are disorders with a block in the metabolic pathway caused by a genetic defect of a specific enzyme. Although each of these diseases is quite rare, as a group they account for a significant proportion of newborn and childhood morbidity and mortality. Early diagnosis is important to prevent complications or even death of the child. Selective screening is an important diagnostic tool for the diagnosis of IEM. Methods: In Slovenia, symptomatic patients with suspected IEM are referred to the University Children's Hospital Ljubljana. Techniques used for selective screening are gas chromatography-mass spectrometry, ion exchange chromatography-post-column derivatization, liquid chromatography-tandem mass spectrometry and isoelectric focusing. Fluorimetric method is used for enzyme activity measurement. Results: There are 168 patients with amino and organic acidemias, 5 patients with disorders in fatty acids metabolism, 1 patient with a congenital disorder of glycosylation, 42 patients with Fabry disease (of which 37 are adult) and 20 patients with Gaucher disease (of which 18 are adult) in the Slovenian Register for Rare Diseases. Conclusions: In Slovenia, management of patients with IEM is centralized at the University Children's Hospital, with the exception of adult patients with Fabry and Gaucher disease. The team work is well organized with close cooperation between the laboratory and pediatricians specialized in metabolic disorders. According to the known frequencies of IEM from the literature, we would expect more positive results than obtained. To evaluate these results, we are planning to perform a pilot study on expanded newborn screening.

Inhereted errors of metabolism (IEM) are heterogenous group of more than 1000 “rare” disorders [Debra L Weiner, 2017], which are characterized with metabolic imbalance. Inhereted errors of metabolism are caused by gene encoding synthesis of enzyme, cofactor or protein (transporter), that function in metabolism of amino acids, organic acids, fatty acid oxidation, urea cycle, mucopolysaccharides (glycosaminoglycans), tissue membrane sphingolipids and glycolipids. As separate disease, they are rare - with a frequency of 1:10 000 to 1: 250,000 inborns [Leach EL at all, 2014], but incidence of IEMs collectively is estimated to be as high as 1 in 800 live births[Applegarth DA at all., 2000; Sanderson S at all, 2006, Mak CM et all, 2013]. Almost all of IEM are autosomal recessive. The clinical manifestation of inborn errors can be acute (severe metabolic decompensation) or chronic. Due to metabolic imbalances there are affect in multiple organs and systems, which leads to a non-specific clinical presentation, and in some cases makes it impossible to diagnose using routine laboratory tests. It is necessary to be used specialized investigations based on sophisticated analytical methods for diagnosis. The metabolomic approach - determination of the metabolic profile in various biological fluids and tissues - in the selective screening programs is the most effective and reliable approach to diagnosis of these rare diseases. Timely and accurate diagnosis is the most essential for the treatment to prevent acute metabolic decompensation, that can lead to irreversible neurological damage and death [Novello AC 1993; Champion MP, 2010, Sutton,V.R, 2018]. This article presents the metabolic approach in Bulgaria for diagnosis of IEM, many of which are presented with acute metabolic crisis caused by infection, stress or starvation. [ABSTRACT FROM AUTHOR]

National Health Service Quality Improvement Scotland (NHS QIS) published a health technology scoping report in 2006 acknowledging that there are serious concerns within Scotland in relation to Developmental Dysplasia of Hip (DDH) as there is no formal screening program in place and there are significant variations between NHS boards leading to confusion for staff and parents. NHS QIS identified need for audit work to improve hip screening in Scotland. The aim of this study is to review of current practice of selective screening for DDH. All newborns who had their first hip scan during one year period (2014) were included in this retrospective study and followed up until June 2015 to include any surgical intervention for dysplastic hip. Out of 428 babies (856 hip scans), abnormality was seen in 119 babies/147 hips (134 Graf 2a/2b, 10 hips were 2c and 3 hips were Graf grade 3). Average age when first scan was performed was 5 weeks (range 3 weeks to 22 weeks). Analysis of risk factors in 119 babies with abnormal scan was consistent with literature (83 breech, 12 family history, 12 HBW, 10 instability and 2 twins of breech). Twelve babies (16 hips) required treatment and were successfully treated in Pavlik harness. There was one case of missed/late dislocation, which lived in outside catchment area for 3 years since birth. During this study period there was no case of avascular necrosis or femoral nerve palsy as a result of treatment. In our experience, selective hip screening by ultrasound scan is useful in avoiding overtreatment and minimizing late presentations.

National Health Service Quality Improvement Scotland (NHS QIS) published a health technology scoping report in 2006 acknowledging that there are serious concerns within Scotland in relation to Developmental Dysplasia of Hip (DDH) as there is no formal screening program in place and there are significant variations between NHS boards leading to confusion for staff and parents. NHS QIS identified need for audit work to improve hip screening in Scotland. The aim of this study is review of current practice of selective screening for DDH. All newborns who had their first hip scan during one year period (2014) were included in this retrospective study and followed up until June 2015 to include any surgical intervention for dysplastic hip. Out of 428 babies (856 hip scans), abnormality was seen in 119 babies/147 hips (134 Graf 2a/2b, 10 hips were 2c and 3 hips were Graf grade 3). Average age when first scan was performed was 5 weeks (range 3 weeks to 22 weeks). Analysis of risk factors in 119 babies with abnormal scan was consistent with literature (83 breech, 12 family history, 12 HBW, 10 instability and 2 twins of breech). Twelve babies (16 hips) required treatment and were successfully treated in Pavlik harness. There was one case of missed/late dislocation, which lived in outside catchment area for 3 years since birth. During this study period there was no case of avascular necrosis or femoral nerve palsy as a result of treatment. In our experience, selective hip screening by ultrasound scan is useful in avoiding overtreatment and minimizing late presentations. [ABSTRACT FROM AUTHOR]

Background: Inborn errors of metabolism (IEM) are disorders with a block in the metabolic pathway caused by a genetic defect of a specific enzyme. Although each of these diseases is quite rare, as a group they account for a significant proportion of newborn and childhood morbidity and mortality. Early diagnosis is important to prevent complications or even death of the child. Selective screening is an important diagnostic tool for the diagnosis of IEM. Methods: In Slovenia, symptomatic patients with suspected IEM are referred to the University Children's Hospital Ljubljana. Techniques used for selective screening are gas chromatography-mass spectrometry, ion exchange chromatography-post-column derivatization, liquid chromatography-tandem mass spectrometry and isoelectric focusing. Fluorimetric method is used for enzyme activity measurement. Results: There are 168 patients with amino and organic acidemias, 5 patients with disorders in fatty acids metabolism, 1 patient with a congenital disorder of glycosylation, 42 patients with Fabry disease (of which 37 are adult) and 20 patients with Gaucher disease (of which 18 are adult) in the Slovenian Register for Rare Diseases. Conclusions: In Slovenia, management of patients with IEM is centralized at the University Children's Hospital, with the exception of adult patients with Fabry and Gaucher disease. The team work is well organized with close cooperation between the laboratory and pediatricians specialized in metabolic disorders. According to the known frequencies of IEM from the literature, we would expect more positive results than obtained. To evaluate these results, we are planning to perform a pilot study on expanded newborn screening. [ABSTRACT FROM AUTHOR]

There is a debate about whether universal or risk factors-based screening is most appropriate for gestational diabetes diagnosis. The aim of our retrospective study was to compare in our population the universal screening test recommended by the International Association of Diabetes in Pregnancy Study Group (IADPSG) panel and the American Diabetes Association (ADA) versus the selective screening proposed by the United Kingdom National Institute for Health and Clinical Excellence guidelines (NICE) but modified by the Italian National Institute of Health. From May 2010 to October 2011 all consecutive pregnant women were screened for gestational diabetes according to the IADPSG's panel criteria, while all the risk factors for each patient were registered. Of the 1015 pregnant women included in the study, 113 (11%) were diagnosed with gestational diabetes and 26 (23%) of them would not have been identified by the selective screening proposed by the Italian National Institute of Health. However, all the risk factors considered by the selective screening revealed a good predictive role except for maternal age ≥35 years (OR: 0.98). In the group without the risk factors considered, it was reported the predictive role for gestational diabetes of prepregnancy BMI and nulliparity. The selective risk factors-based screening proposed by the Italian National Institute of Health has detected 77% of gestational diabetes cases in our population, sparing the oral glucose tolerance test for more than 40% of pregnant women at the same time. More information on the clinical impact of this choice could be obtained by a strict analysis of treatment, perinatal outcome and follow-up of an adequate sample size of 'missed' gestational diabetes. [ABSTRACT FROM AUTHOR]

Abstract: Objective: In order to enhance awareness and promote registry for inborn errors of metabolism (IEMs) in Egypt, we aimed to evaluate the prevalence and main clinical findings of IEMs detectable by tandem mass spectrometry (MS/MS) among high risk pediatric patients presenting to our tertiary care facility at Cairo University Children's Hospital over a period of 5years and to compare the disease burden in Egypt in the absence of a national screening program for inherited metabolic disorders with other populations. Methods: During this period 3380 Egyptian children were suspected of having IEMs based on clinical/laboratory presentation and were analyzed by MS/MS. Confirmatory testing was performed according to flagged analyte by MS/MS using a different sample type such as plasma or urine or by a different technique such as GC/MS. Results: A relatively high number of patients (203/3380 (6%)) were confirmed with 17 different types of IEMs. Averages for age at diagnosis for different disorders ranged from 2.5months to 6.6years with general developmental delay and irreversible neurological damage being the most common presenting features (75.9% and 65.5%, respectively). Amino acid disorders (127/203 (62.6%)), mainly phenylketonuria (100/203 (49.3%)), were the most encountered, followed by organic acidemias (69/203 (34%)), while fatty acid oxidation defects (7/203 (3.4%)) were relatively rare. 88% of patients were born to consanguineous parents. Conclusions: The development of a nationwide screening program for IEMs is mandatory for early detection of these potentially treatable disorders, prompt and properly timed therapeutic intervention and prevention of the devastating neurological outcomes. [Copyright &y& Elsevier]

• Colorimetric sensing is an easy approach for toxic metal ion screening. • Fluorophore-modified MSH@EB has been developed for selective sensing of Hg2+ ions. • The MSH@EB is useful to investigate the Hg2+ ions in water and biological samples. Mercury and its compounds are extremely toxic and have a negative impact on humans and other organisms, but they are abundant in the environment. Colorimetric sensing of toxic heavy metal ions is a relatively simple, quick, and efficient technique that uses visual color change and has received a lot of attention. We created an ethidium bromide (EB) immobilized heterogeneous hybrid mesoporous organosilica nanosensor for colorimetric and visual determination of mercury (Hg2+ ions) in water and biological cells were experimentally evaluated in this study. Over a range of competitive metal ions, this nanosensor demonstrated selective monitoring of Hg2+ ions via visual color transition and fluorescent quenching. [ABSTRACT FROM AUTHOR]

Abstract: Mandatory newborn screening for metabolic disorders has not been implemented in most Middle Eastern countries. Early detection and treatment of inborn errors of metabolism can reduce mortality and minimize morbidity. Preliminary studies conducted in some parts of Middle East suggest that the incidences of inborn errors of metabolism are reported to be higher in the region than anywhere else in the world due to the consanguinity. In this study the incidence of inborn errors of amino acids, organic acids and fatty acids oxidation disorders was investigated from the results of blood spot analysis of 1986 symptomatic children from 1st January 2008 to 31st of December 2011. Out of 1986 newborns screened 25 infants were diagnosed and confirmed with amino acids (n=11), organic acids (n=9) and fatty acids oxidation (n=5) disorders. Overall incidences based on number of live birth between 2008 and 2011 inclusive were 1:6000, 1:8000 and 1:14,000 for amino acids, organic acids and fatty acids oxidation disorders; respectively. Out of 25 infants diagnosed, 21 were the children of first cousin marriages. Results from this study suggest high incidence of inborn errors of amino acids, organic acids and fatty acids oxidation metabolism in Bahrain and significant contribution of consanguinity in inherited metabolic disorders. Mandatory screening for inborn errors of metabolism in Bahrain is highly recommended. [Copyright &y& Elsevier]

Objective: To evaluate the relationship between risk factors and presence of developmental dysplasia of the hip (DDH) in male infants, and to compare the efficiency of different ultrasound (US) screening protocols. Materials and Methods: 1321 male infants were included in the study. Ultrasound examinations were performed by combining Graffs static method and Harckefs dynamic method. The relationship between the risk factors and DDH and the effect of risk factors on sonographic worsening in type 2a hips were assessed by the chi-square test and Fisher`s exact test. Results: The incidence of DDH was 1.4%. 13% of the cases had type 2a morphology, among whom in 3.1% sonographic deterioration occurred. The treatment rate was 1.8%. The rate of follow-up US was 17.5%. No risk factor was found to have a statistically significant influence on DDH (≥ type 2b morphology). Among the 32 cases with DDH, 23 (72%) had a risk factor or positive clinical finding while 9 (28%) did not (p:0.006). Conclusion: Risk factors do not have a statistically significant relationship with DDH in male cases. In our study 28% of the cases with DDH would be missed by a selective US screening protocol. We recommend assessment of all male infants with hip US. [ABSTRACT FROM AUTHOR]

Abstract: Objectives: : Tandem mass spectrometry is a major technological advance in the screening for inborn errors of metabolism. It has the advantage of sensitive and simultaneous multiple disease screening with minimal sample requirement. The diseases detected include aminoacidemias, fatty acid oxidation disorders, and organic acidemias. Design and methods: : Using automated electrospray tandem mass spectrometry we screened 3550, clinically selected, symptomatic children for inborn errors of metabolism by analyzing amino acids and acylcarnitines in dried blood filter-paper samples. Results: : Among these, 113 (3.2%) children were identified with a metabolic disorder: 61 (54%) patients had amino acid disorders, 47 (41.6%) had organic acidemias, and 5 (4.4%) children had disorders of fatty acid oxidation. The diagnoses were further confirmed through clinical symptoms, and other biochemical studies. Conclusions: : These results show that inherited metabolic disorders are not rare in India, a rapidly developing country with a high birth rate and relatively frequent occurrence of consanguineous marriages. [Copyright &y& Elsevier]