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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.

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.

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).)

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.)