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Expanded newborn screening

Bianca M L Stelten, Hidde H Huidekoper, Bart P C van de Warrenburg, Eva H Brilstra, Carla E M Hollak, Harm R Haak, Leo A J Kluijtmans, Ron A Wevers, Aad Verrips
OBJECTIVE: To evaluate the effect of chenodeoxycholic acid treatment on disease progression in cerebrotendinous xanthomatosis (CTX). METHODS: In this retrospective cohort study, we report the clinical long-term follow-up characteristics of 56 Dutch patients with CTX. Age at diagnosis was correlated with clinical characteristics and with the course of modified Rankin Scale (mRS) and Expanded Disability Status Scale (EDSS) scores at follow-up. RESULTS: Median follow-up time was 8 years (6 months-31...
December 7, 2018: Neurology
Neslihan Yildirim Saral, Fehime Benli Aksungar, Cigdem Aktuglu-Zeybek, Julide Coskun, Ozlem Demirelce, Mustafa Serteser
Glutaric acidemia type II (GAII), also known as multiple acyl-CoA dehydrogenase deficiency, is an autosomal recessive inborn error of amino acid and fatty acid metabolism. We report a case of GAII with novel electron transfer flavoprotein (ETF)-A mutations in a 2-year-old female with thalassemia minor. The patient developed an episode of hypoglycemia and hypotonicity on the postnatal first day. Laboratory investigations revealed elevations of multiple acyl carnitines indicating glutaric acidemia type II in newborn screening analysis...
November 26, 2018: World Journal of Clinical Cases
Lydia H Pecker, Rakhi P Naik
Sickle cell trait (SCT) is unique among the carrier states that are identified during newborn screening. Unlike other heterozygous states for rare recessive diseases, SCT is exceedingly prevalent throughout regions of the world, making sickle cell disease one of the most common monogenetic diseases worldwide. Because of this high frequency, reproductive counseling is of paramount importance. In addition, unlike other carrier states, SCT seems to be a risk factor for several clinical complications, such as extreme exertional injury, chronic kidney disease, and venous thromboembolism...
November 30, 2018: Hematology—the Education Program of the American Society of Hematology
Stamatia Theodoridou, Nikolaos Prapas, Angeliki Balassopoulou, Effrossyni Boutou, Timoleon-Achilleas Vyzantiadis, Despoina Adamidou, Evangelia-Eleni Delaki, Eleni Yfanti, Marina Economou, Αikaterini Teli, Olga Karakasidou, Evangelia Skatharoudi, Theodoros Theodoridis, Ersi Voskaridou
Hemoglobinopathies constitute the most frequent monogenic disorders worldwide and in Greece. In Greece, carrier frequency is estimated at about 8.0%, resulting in a heavy disease burden in the past. Therefore, the implementation of a national prevention program of the disease was an urgent necessity. Moreover, due to migration flow from different geographic areas in the last two decades, the observed spectrum of underlying mutations was expanded, leading to the adaptation of diagnostic approaches. We report the results of the National Thalassaemia Prevention Programme in Northern Greece, over a 15-year period (2001-2015)...
December 3, 2018: Hemoglobin
Lydia H Pecker, Rakhi P Naik
Sickle cell trait (SCT) is unique among the carrier states that are identified during newborn screening. Unlike other heterozygous states for rare recessive diseases, SCT is exceedingly prevalent throughout regions of the world, making sickle cell disease one of the most common monogenetic diseases worldwide. Because of this high frequency, reproductive counseling is of paramount importance. In addition, unlike other carrier states, SCT appears to be a risk factor for several clinical complications such as extreme exertional injury, chronic kidney disease, and venous thromboembolism...
November 28, 2018: Blood
Xuelei Zhao, Xiaohua Cheng, Lihui Huang, Xianlei Wang, Cheng Wen, Xueyao Wang
In order to investigate the genetic causes of hearing loss in a Chinese proband with nonsyndromic hearing loss and enlarged vestibular aqueduct (EVA), we conducted clinical and genetic evaluations in a deaf proband and her parents with normal hearing. 20 exons and flanking splice sites of the SLC26A4 gene were screened for pathogenic mutations by PCR amplification and bidirectional sequencing. As a control, a group of 400 healthy newborns from the same ethnic background were subjected to SLC26A4 gene screening using the same method...
2018: Bioscience Trends
Graham Amponsah Ameyaw, John Ribera, Samuel Anim-Sampong
BACKGROUND: Newborn hearing screening is a vital aspect of the Early Hearing Detection and Intervention program, aimed at detecting hearing loss in children for prompt treatment. In Ghana, this kind of pediatric hearing service is available at only one health care facility located in the Greater Accra Region. The current practice in effect has virtually cut-off infants in the other regions from accessing hearing screening and other pediatric audiological services. This has prompted a study into alternative methodologies to expand the reach of such services in Ghana...
February 7, 2018: Journal of the American Academy of Audiology
Alan F Rope, Tia L Kauffman, Pat Himes, Laura M Amendola, Sumit Punj, Yassmine Akkari, Amiee Potter, James V Davis, Jennifer L Schneider, Jacob A Reiss, Mari J Gilmore, Carmit K McMullen, Deborah A Nickerson, C Sue Richards, Gail P Jarvik, Benjamin S Wilfond, Katrina A B Goddard
A research study utilizing whole-genome sequence analysis for preconception carrier screening provided a genome-first detection of a severe de novo Factor VIII mutation in a woman with implications for pregnancy management and life-saving interventions of her newborn son, and a challenge to the existing paradigm regarding carrier testing.
November 2018: Clinical Case Reports
C M Nasheeda, Prijo Philip, Rathika Damodara Shenoy, Sukanya Shetty
Even in the era of expanded newborn screening, utility of cord blood thyroid stimulating hormone (cTSH) for diagnosis of congenital hypothyroidism (CH) cannot be marginalised. This study was to assess the diagnostic utility of cTSH > 20 μIU/L for screening CH. Generation of new cTSH value was the main outcome measure, to increase specificity. Designed as a cross-sectional analytic study in the neonatal unit of teaching hospital, 1200 term neonates with birth weight ≥2500 g, with no perinatal complications were included...
October 2018: Indian Journal of Clinical Biochemistry: IJCB
Michele Mussap, Marco Zaffanello, Vassilios Fanos
Timely newborn screening and genetic profiling are crucial in early recognition and treatment of inborn errors of metabolism (IEMs). A proposed nosology of IEMs has inserted 1,015 well-characterized IEMs causing alterations in specific metabolic pathways. With the increasing expansion of metabolomics in clinical biochemistry and laboratory medicine communities, several research groups have focused their interest on the analysis of metabolites and their interconnections in IEMs. Metabolomics has the potential to extend metabolic information, thus allowing to achieve an accurate diagnosis for the individual patient and to discover novel IEMs...
September 2018: Annals of Translational Medicine
Hassan Abolhassani, Fatemeh Kiaee, Marzieh Tavakol, Zahra Chavoshzadeh, Seyed Alireza Mahdaviani, Tooba Momen, Reza Yazdani, Gholamreza Azizi, Sima Habibi, Mohammad Gharagozlou, Masoud Movahedi, Amir Ali Hamidieh, Nasrin Behniafard, Mohammamd Nabavi, Mohammad Hassan Bemanian, Saba Arshi, Rasol Molatefi, Roya Sherkat, Afshin Shirkani, Reza Amin, Soheila Aleyasin, Reza Faridhosseini, Farahzad Jabbari-Azad, Iraj Mohammadzadeh, Javad Ghaffari, Alireza Shafiei, Arash Kalantari, Mahboubeh Mansouri, Mehrnaz Mesdaghi, Delara Babaie, Hamid Ahanchian, Maryam Khoshkhui, Habib Soheili, Mohammad Hossein Eslamian, Taher Cheraghi, Abbas Dabbaghzadeh, Mahmoud Tavassoli, Rasoul Nasiri Kalmarzi, Seyed Hamidreza Mortazavi, Sara Kashef, Hossein Esmaeilzadeh, Javad Tafaroji, Abbas Khalili, Fariborz Zandieh, Mahnaz Sadeghi-Shabestari, Sepideh Darougar, Fatemeh Behmanesh, Hedayat Akbari, Mohammadreza Zandkarimi, Farhad Abolnezhadian, Abbas Fayezi, Mojgan Moghtaderi, Akefeh Ahmadiafshar, Behzad Shakerian, Vahid Sajedi, Behrang Taghvaei, Mojgan Safari, Marzieh Heidarzadeh, Babak Ghalebaghi, Seyed Mohammad Fathi, Behzad Darabi, Saeed Bazregari, Nasrin Bazargan, Morteza Fallahpour, Alireza Khayatzadeh, Naser Javahertrash, Bahram Bashardoust, Mohammadali Zamani, Azam Mohsenzadeh, Sarehsadat Ebrahimi, Samin Sharafian, Ahmad Vosughimotlagh, Mitra Tafakoridelbari, Maziar Rahimi, Parisa Ashournia, Anahita Razaghian, Arezou Rezaei, Setareh Mamishi, Nima Parvaneh, Nima Rezaei, Lennart Hammarström, Asghar Aghamohammadi
BACKGROUND: The number of inherited diseases and the spectrum of clinical manifestations of primary immunodeficiency disorders (PIDs) are ever-expanding. Molecular diagnosis using genomic approaches should be performed for all PID patients since it provides a resource to improve the management and to estimate the prognosis of patients with these rare immune disorders. METHOD: The current update of Iranian PID registry (IPIDR) contains the clinical phenotype of newly registered patients during last 5 years (2013-2018) and the result of molecular diagnosis in patients enrolled for targeted and next-generation sequencing...
October 2018: Journal of Clinical Immunology
Hong Li, Lihua Zhao, Rani Singh, J Nina Ham, Doris O Fadoju, Lora J H Bean, Yan Zhang, Yong Xu, H Eric Xu, Michael J Gambello
Glucagon receptor (GCGR) defect (Mahvash disease) is an autosomal recessive hereditary pancreatic neuroendocrine tumor (PNET) syndrome that has only been reported in adults with pancreatic α cell hyperplasia and PNETs. We describe a 7-year-old girl with persistent hyperaminoacidemia, notable for elevations of glutamine (normal ammonia), alanine (normal lactate), dibasic amino acids (arginine, lysine and ornithine), threonine and serine. She initially was brought to medical attention by an elevated arginine on newborn screening (NBS) and treated for presumed arginase deficiency with a low protein diet, essential amino acids formula and an ammonia scavenger drug...
December 2018: Molecular Genetics and Metabolism Reports
Molly O Regelmann, Manmohan K Kamboj, Bradley S Miller, Jon M Nakamoto, Kyriakie Sarafoglou, Sejal Shah, Takara L Stanley, Rose Marino
Context: Adrenoleukodystrophy (ALD) is a peroxisomal disorder associated with neurologic decompensation and adrenal insufficiency. Newborn screening for ALD has recently been implemented in five states with plans to expand to all 50 states in the United States. Adrenal insufficiency ultimately develops in most males with ALD, but the earliest age of onset is not well established. Objective: These clinical recommendations are intended to address screening for adrenal insufficiency in boys identified to have ALD by newborn screen...
November 1, 2018: Journal of Clinical Endocrinology and Metabolism
Stuart James Wright, Fiona Ulph, Tina Lavender, Nimarta Dharni, Katherine Payne
Background: Understanding preferences for information provision in the context of health care service provision is challenging because of the number of potential attributes that may influence preferences. This study aimed to identify midwives' preferences for the process and outcomes of information provision in an expanded national newborn bloodspot screening program. Design: A sample of practicing midwives completed a hybrid-stated preference survey including a conjoint analysis (CA) and discrete choice experiment to quantify preferences for the types of, and way in which, information should be provided in a newborn bloodspot screening program...
January 2018: MDM Policy & Practice
Maggie C Walter, Anne Julia Stauber
Spinal muscular atrophy (SMA) is a progressive autosomal recessive motor neuron disease with an incidence of 1:10,000 live births, caused by loss of the survival motor neuron 1 gene (SMN1), and represents the most frequent neurodegenerative disorder in children. With greater understanding of the molecular basis of SMA in the past two decades, a major focus of therapeutic developments has been on increasing the fulllength SMN protein by increasing the inclusion of exon 7 in SMN2 transcripts, enhancing SMN2 gene expression, stabilizing the SMN protein or replacing the SMN1 gene...
September 2018: Fortschritte der Neurologie-Psychiatrie
Gisela Wilcox
Once based mainly in paediatrics, inborn errors of metabolism (IEM), or inherited metabolic disorders (IMD) represent a growing adult medicine specialty. Individually rare these conditions have currently, a collective estimated prevalence of >1:800. Diagnosis has improved through expanded newborn screening programs, identification of potentially affected family members and greater awareness of symptomatic presentations in adolescence and in adulthood. Better survival and reduced mortality from previously lethal and debilitating conditions means greater numbers transition to adulthood...
March 2018: Reviews in Endocrine & Metabolic Disorders
S C Chong, P Lo, C W Chow, L Yuen, W C W Chu, T Y Leung, J Hui, F Scaglia
BACKGROUND AND OBJECTIVES: This retrospective study analysed a case series of subjects with citrin deficiency, and aims to present the molecular and clinical characterization of this disease in the Hong Kong Chinese population for the first time. PATIENTS AND METHODS: Data from medical records of eighteen patients with citrin deficiency (years 2006-2015) were retrieved. Demographic data, biochemical parameters, radiological results, genetic testing results, management, and clinical outcome were collected and analysed...
December 2018: Molecular Genetics and Metabolism Reports
Yi Feng, Sichi Liu, Chengfang Tang, Xiang Jiang, Fang Tang, Bei Li, Xuefang Jia, Qianyu Chen, Jilian Liu, Yonglan Huang
Hyperphenylalaninemia (HPA), an abnormal condition of phenylalanine metabolism, was recently reported to be caused by DNAJC12 mutations. As the heat shock co-chaperone, DNAJC12 prevents the aggregation of misfolded or aggregation-prone proteins and maintain the correct assembly and degradation. Here, we report a patient with unexplained HPA detected by newborn screening. Differential diagnoses of pterin profile and targeted next generation sequencing of excluded the most common causes of the defects of the enzyme phenylalanine hydroxylase or its cofactor tetrahydrobiopterin (BH4)...
September 1, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
Diane B Paul
In recent years, as newborn screening has expanded to include conditions for which treatment is questionable, new rationales for screening have proliferated. One such rationale is the potential reproductive benefit to parents from the detection of a genetic condition or carrier status in infants. An unanticipated consequence of invoking knowledge of reproductive risk as a major benefit of screening has been to open newborn screening to the charge that it constitutes state-sanctioned eugenics. Thus, an endeavor that had been viewed as the converse of state programs of selective breeding has come to be seen in some quarters as yet another of its incarnations...
July 2018: Hastings Center Report
Cynthia M Powell
Massively parallel sequencing, also known as next-generation sequencing, has the potential to significantly improve newborn screening programs in the United States and around the world. Compared to genetic tests whose use is well established, sequencing allows for the analysis of large amounts of DNA, providing more comprehensive and rapid results at a lower cost. It is already being used in limited ways by some public health newborn screening laboratories in the United States and other countries-and it is under study for broader and more widespread use, including as a core part of newborn screening programs...
July 2018: Hastings Center Report
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