keyword
https://read.qxmd.com/read/38535127/expanded-newborn-screening-for-inborn-errors-of-metabolism-in-hong-kong-results-and-outcome-of-a-7-year-journey
#1
JOURNAL ARTICLE
Kiran Moti Belaramani, Toby Chun Hei Chan, Edgar Wai Lok Hau, Matthew Chun Wing Yeung, Anne Mei Kwun Kwok, Ivan Fai Man Lo, Terry Hiu Fung Law, Helen Wu, Sheila Suet Na Wong, Shirley Wai Lam, Gladys Ha Yin Ha, Toby Pui Yee Lau, Tsz Ki Wong, Venus Wai Ching Or, Rosanna Ming Sum Wong, Wong Lap Ming, Jasmine Chi Kwan Chow, Eric Kin Cheong Yau, Antony Fu, Josephine Shuk Ching Chong, Ho Chung Yau, Grace Wing Kit Poon, Kwok Leung Ng, Kwong Tat Chan, Yuen Yu Lam, Joannie Hui, Chloe Miu Mak, Cheuk Wing Fung
Newborn screening (NBS) is an important public health program that aims to identify pre-symptomatic healthy babies that will develop significant disease if left undiagnosed and untreated. The number of conditions being screened globally is expanding rapidly in parallel with advances in technology, diagnosis, and treatment availability for these conditions. In Hong Kong, NBS for inborn errors of metabolism (NBSIEM) began as a pilot program in October 2015 and was implemented to all birthing hospitals within the public healthcare system in phases, with completion in October 2020...
March 11, 2024: International Journal of Neonatal Screening
https://read.qxmd.com/read/38534523/profile-of-a-multivariate-observation-under-destructive-sampling-a-monte-carlo-approach-to-a-case-of-spina-bifida
#2
JOURNAL ARTICLE
Tianyuan Guan, Rigwed Tatu, Koffi Wima, Marc Oria, Jose L Peiro, Chia-Ying Lin, Marepalli B Rao
A biodegradable hybrid polymer patch was invented at the University of Cincinnati to cover gaps on the skin over the spinal column of a growing fetus, characterized by the medical condition spina bifida. The inserted patch faces amniotic fluid (AF) on one side and cerebrospinal fluid on the other side. The goal is to provide a profile of the roughness of a patch over time at 0, 4, 8, 12, and 16 weeks with a 95% confidence band. The patch is soaked in a test tube filled with either amniotic fluid (AF) or phosphate-buffered saline (PBS) in the lab...
March 3, 2024: Bioengineering
https://read.qxmd.com/read/38529480/congenital-malformations-in-the-moroccan-surveillance-system-contribution-to-prevalence-estimation
#3
JOURNAL ARTICLE
Soukaina Kannane, Samia Boussaa, Jamila El Mendili, Oulaid Touloun
BACKGROUND: Congenital malformations (CMs) are a group of structural or functional anomalies present at birth. These anomalies result in a high rate of mortality, morbidity, and disability in children. CMs are a major public health problem and place a heavy burden on healthcare systems in both developed and developing countries including Morocco, which has had a CMs surveillance system in place since 2011. The aim of this study is to determine the prevalence of CMs in Morocco. METHODS: In this study, the epidemiology of CMs in Morocco was assessed retrospectively using the national surveillance system data gathered from case notification forms from 2017 to 2021...
2024: Global Health, Epidemiology and Genomics
https://read.qxmd.com/read/38529454/congenital-heart-defects-in-pregnancies-conceived-by-assisted-reproductive-technology-comparing-functional-and-structural-defects
#4
JOURNAL ARTICLE
Saeid Rasouli, Mohammad Radgoodarzi, Reza Azarbad, Azim Ghazvini, Mohammadjavad Sotoudeheian, Mehdi Taghizadeh, Mohammad Sedigh Dakkali
Introduction Congenital heart defects (CHD) are one of the most common congenital anomalies, and their association with assisted reproductive technology (ART) is controversial in different populations. The purpose of this study was to evaluate this association and to provide information about the necessity of specialized echocardiography during pregnancy with ART. Methods This retrospective study was performed on all pregnancies conceived by ART and referred for fetal echocardiography to the Rasoul Akram and Akbar Abadi hospitals in Tehran, Iran...
February 2024: Curēus
https://read.qxmd.com/read/38526198/genome-wide-analysis-of-spina-bifida-risk-variants-in-a-case-control-study-from-bangladesh
#5
JOURNAL ARTICLE
Gwen Tindula, Biju Issac, Sudipta Kumer Mukherjee, Sheikh Muhammad Ekramullah, D M Arman, Joynul Islam, Hafiza Sultana Suchanda, Liang Sun, Shira Rockowitz, David C Christiani, Benjamin C Warf, Maitreyi Mazumdar
BACKGROUND: Human studies of genetic risk factors for neural tube defects, severe birth defects associated with long-term health consequences in surviving children, have predominantly been restricted to a subset of candidate genes in specific biological pathways including folate metabolism. METHODS: In this study, we investigated the association of genetic variants spanning the genome with risk of spina bifida (i.e., myelomeningocele and meningocele) in a subset of families enrolled from December 2016 through December 2022 in a case-control study in Bangladesh, a population often underrepresented in genetic studies...
March 2024: Birth Defects Research
https://read.qxmd.com/read/38526193/folate-and-vitamin-b-12-status-and-predicted-neural-tube-defects-risk-among-nonpregnant-women-of-reproductive-age-from-the-malawi-national-micronutrient-survey-2015-2016
#6
JOURNAL ARTICLE
Yan Ping Qi, Krista S Crider, Anne M Williams, Katie Tripp, Carine Mapango, Elizabeth C Rhodes, Eunice Nyirenda, Felix Phiri, Mindy Zhang, Shameem Jabbar, Christine M Pfeiffer, Helena Pachón, Sarah Zimmerman, Jennifer L Williams
BACKGROUND: Maternal folate and vitamin B12 deficiency can lead to serious adverse pregnancy outcomes. There are no nationally representative estimates on folate and vitamin B12 status among women of reproductive age (WRA) in Malawi. OBJECTIVE: We assessed folate and vitamin B12 status among nonpregnant WRA in Malawi and predicted the risk of folate-sensitive neural tube defects (NTDs) were they to become pregnant. METHODS: Using data from the cross-sectional, nationally representative 2015-2016 Malawi Micronutrient Survey, we calculated the proportion of folate and vitamin B12 deficiency and insufficiency by demographic characteristics among 778 nonpregnant WRA (15-49 years)...
March 2024: Birth Defects Research
https://read.qxmd.com/read/38521899/epidemiology-of-congenital-polydactyly-and-syndactyly-in-hunan-province-china
#7
JOURNAL ARTICLE
Xu Zhou, Ting Li, Haiyan Kuang, Ying Zhou, Donghua Xie, Jian He, Juan Xiao, Chanchan Chen, Yurong Jiang, Junqun Fang, Hua Wang
OBJECTIVE: To describe the prevalence and epidemiology of congenital polydactyly and syndactyly in Hunan Province, China, 2016-2020. METHODS: Data were obtained from the Birth Defects Surveillance System in Hunan Province, China, 2016-2020. Prevalence of birth defects (polydactyly or syndactyly) is the number of cases per 1000 births (unit: ‰). Prevalence and 95% confidence intervals (CI) were calculated by the log-binomial method. Chi-square trend tests (χ2 trend ) were used to determine trends in prevalence by year...
March 23, 2024: BMC Pregnancy and Childbirth
https://read.qxmd.com/read/38521126/-usefulness-of-ultrasound-measurement-of-the-lower-uterine-segment-before-delivery-of-women-with-a-prior-cesarean-literature-review
#8
JOURNAL ARTICLE
Patrick Rozenberg
Identifying women with a history of cesarean delivery and at real risk for uterine rupture is an important aim in obstetric care. It is with this objective that different authors have evaluated the interest of ultrasound for predicting the risk of a cesarean scar defect by measuring the thickness of the lower uterine segment. The literature is sparse and subject to numerous biases because they are mainly prospective cohort studies with small numbers. However, the results are concordant: Ultrasound measurements of lower uterine segment thickness are strongly correlated with the operative findings observed during cesarean delivery...
March 21, 2024: Gynecologie, Obstetrique, Fertilite & Senologie
https://read.qxmd.com/read/38520213/impact-of-perinatal-exposure-counseling-on-patient-reported-emotional-outcomes-and-decisional-empowerment
#9
JOURNAL ARTICLE
Réka Müller, Madison Lake, Nevena Krstić, Sarah G Običan, Deborah Cragun
BACKGROUND: Exposures during pregnancy are common and most pregnant patients utilize at least one medication during pregnancy. The lack of reliable information on medication safety during pregnancy available to providers and patients is a stressor and obstacle to decision-making about medication use in pregnancy. Previous studies showed that exposures in pregnancy are associated with guilt, worry, and decisional conflict. Although prior research has evaluated changes in patient knowledge after teratogen counseling, studies have not examined emotional outcomes or patients' decisional empowerment...
March 2024: Birth Defects Research
https://read.qxmd.com/read/38519038/preimplantation-genetic-testing-for-polygenetic-conditions-a-legal-ethical-and-scientific-challenge
#10
JOURNAL ARTICLE
Perrine Ginod, Michael H Dahan
The recent commercialization of the Embryo Health Score (EHS), determined through preimplantation genetic testing for polygenic conditions, offers the potential to select embryos with lower disease risk, thus potentially enhancing offspring longevity and health. Lately, Orchid Health company increased testing from less than 20 diseases to more than 900+ conditions for birth defects. However, the "geneticization" of phenotype estimates to a health state erases the environmental part, including the in vitro fertilization potential risks, questioning its scientific usefulness...
March 22, 2024: Seminars in Reproductive Medicine
https://read.qxmd.com/read/38516427/pregnancy-with-a-bicornuate-uterus-complicated-by-placenta-percreta-and-intraperitoneal-hemorrhage
#11
Reem Talal Almehzaa, Amala Sunder, Nayla Bushaqer
Uterine malformations significantly affect the reproduction process, and such anomalies can affect the progression and prognosis of a pregnancy. A bicornuate uterus is a rare congenital uterine anomaly that occurs due to a defect in the fusion of Müllerian ducts. It is associated with severe maternal and fetal complications, such as uterine rupture, vascular-related pathologies, preterm labor and birth, recurrent early or late loss of pregnancy, and fetal growth restriction. In such scenarios, close monitoring and ultrasound screening are needed to prevent obstetric complications...
February 2024: Curēus
https://read.qxmd.com/read/38514513/beckwith-wiedemann-syndrome-with-juvenile-fibrous-nodules-and-lobular-breast-tumors-a-case-report-and-review-of-the-literature
#12
JOURNAL ARTICLE
Yo Sato, Yusuke Watanabe, Takafumi Morisaki, Saori Hayashi, Yoshiki Otsubo, Yurina Ochiai, Kimihisa Mizoguchi, Yuka Takao, Mai Yamada, Yusuke Mizuuchi, Masafumi Nakamura, Makoto Kubo
BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is a genomic imprinting disorder caused by diverse genetic and/or epigenetic disorders of chromosome 11p15.5. BWS presents with a variety of clinical features, including overgrowth and an increased risk of embryonal tumors. Notably however, reports of patients with BWS and breast tumors are rare, and the association between these conditions is still unclear. Insulin-like growth factor-2 (IGF2) expression is known to be associated with the development of various cancers, including breast cancer, and patients with BWS with specific subtypes of molecular defects are known to show characteristic clinical features and IGF2 overexpression...
March 22, 2024: Surgical Case Reports
https://read.qxmd.com/read/38512555/potential-micronutrient-deficiencies-in-the-first-1000-days-of-life-the-pediatrician-on-the-side-of-the-weakest
#13
REVIEW
Carolà Panzeri, Luca Pecoraro, Alice Dianin, Andrea Sboarina, Olivia C Arnone, Giorgio Piacentini, Angelo Pietrobelli
PURPOSE OF REVIEW: This study is to examine potential micronutrient deficiencies and any need for supplementation in children following specific diet plans in the first 1000 days of life. RECENT FINDINGS: Optimal nutrition in the first 1000 days of life has a lifelong positive impact on child development. Specific intrauterine and perinatal factors, pathological conditions, and dietary restrictions can represent potential risk factors for micronutrient deficiencies in the first 1000 days of life, which can have negative systemic consequences...
March 21, 2024: Current Obesity Reports
https://read.qxmd.com/read/38511267/preimplantation-genetic-testing-as-a-means-of-preventing-hereditary-congenital-myasthenic-syndrome-caused-by-rapsn
#14
JOURNAL ARTICLE
Zhiping Zhang, Xueluo Zhang, Huiqin Xue, Liming Chu, Lina Hu, Xingyu Bi, Pengfei Zhu, Dongdong Zhang, Jiayao Chen, Xiangrong Cui, Lingyin Kong, Bo Liang, Xueqing Wu
BACKGROUND: Congenital myasthenic syndrome is a heterogeneous group of inherited neuromuscular transmission disorders. Variants in RAPSN are a common cause of CMS, accounting for approximately 14%-27% of all CMS cases. Whether preimplantation genetic testing for monogenic disease (PGT-M) could be used to prevent the potential birth of CMS-affected children is unclear. METHODS: Application of WES (whole-exome sequencing) for carrier testing and guidance for the PGT-M in the absence of a genetically characterized index patient as well as assisted reproductive technology were employed to prevent the occurrence of birth defects in subsequent pregnancy...
March 2024: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/38509505/breastfeeding-in-primiparous-women-with-congenital-heart-disease%C3%A2-%C3%A2-a-register-study
#15
JOURNAL ARTICLE
Ylva Holstad, Bengt Johansson, Maria Lindqvist, Agneta Westergren, Inger Sundström Poromaa, Christina Christersson, Mikael Dellborg, Aleksandra Trzebiatowska-Krzynska, Peder Sörensson, Ulf Thilén, Anna-Karin Wikström, Annika Bay
BACKGROUND: The number of pregnant women with congenital heart disease (CHD) is rising, and the disease poses increased risks of cardiovascular and obstetric complications during pregnancy, potentially impacting breastfeeding success. This study aimed to investigate breastfeeding in primiparous women with CHD compared to primiparous women without CHD, and to examine potential hindering factors for breastfeeding in women with CHD. METHODS: The data were gathered between 2014 and 2019 and obtained by merging the Swedish Congenital Heart Disease Register (SWEDCON) with the Swedish Pregnancy Register...
March 20, 2024: International Breastfeeding Journal
https://read.qxmd.com/read/38509227/viral-infections-in-pregnancy-and-impact-on-offspring-neurodevelopment-mechanisms-and-lessons-learned
#16
REVIEW
Emma F Yates, Sarah B Mulkey
Pregnant individuals with viral illness may experience significant morbidity and have higher rates of pregnancy and neonatal complications. With the growing number of viral infections and new viral pandemics, it is important to examine the effects of infection during pregnancy on both the gestational parent and the offspring. Febrile illness and inflammation during pregnancy are correlated with risk for autism, attention deficit/hyperactivity disorder, and developmental delay in the offspring in human and animal models...
March 20, 2024: Pediatric Research
https://read.qxmd.com/read/38509077/mettl3-dependent-m-6-a-modification-of-psen1-mrna-regulates-craniofacial-development-through-the-wnt-%C3%AE-catenin-signaling-pathway
#17
JOURNAL ARTICLE
Lan Ma, Xi Zhou, Siyue Yao, Xinyu Zhang, Ji Mao, Barbara Vona, Liwen Fan, Shu Lou, Dandan Li, Lin Wang, Yongchu Pan
Craniofacial malformations, often associated with syndromes, are prevalent birth defects. Emerging evidence underscores the importance of m6 A modifications in various bioprocesses such as stem cell differentiation, tissue development, and tumorigenesis. Here, in vivo, experiments with zebrafish models revealed that mettl3-knockdown embryos at 144 h postfertilization exhibited aberrant craniofacial features, including altered mouth opening, jaw dimensions, ethmoid plate, tooth formation and hypoactive behavior...
March 20, 2024: Cell Death & Disease
https://read.qxmd.com/read/38507484/gastrulation-stage-gene-expression-in-nipbl-mouse-embryos-foreshadows-the-development-of-syndromic-birth-defects
#18
JOURNAL ARTICLE
Stephenson Chea, Jesse Kreger, Martha E Lopez-Burks, Adam L MacLean, Arthur D Lander, Anne L Calof
In animal models, Nipbl deficiency phenocopies gene expression changes and birth defects seen in Cornelia de Lange syndrome, the most common cause of which is Nipbl haploinsufficiency. Previous studies in Nipbl+/- mice suggested that heart development is abnormal as soon as cardiogenic tissue is formed. To investigate this, we performed single-cell RNA sequencing on wild-type and Nipbl+/- mouse embryos at gastrulation and early cardiac crescent stages. Nipbl+/- embryos had fewer mesoderm cells than wild-type and altered proportions of mesodermal cell subpopulations...
March 22, 2024: Science Advances
https://read.qxmd.com/read/38507116/early-hematopoietic-cell-transplantation-for-familial-hemophagocytic-lymphohistiocytosis-in-a-regional-treatment-network-in-japan
#19
JOURNAL ARTICLE
Masataka Ishimura, Katsuhide Eguchi, Motoshi Sonoda, Tamami Tanaka, Akira Shiraishi, Yasunari Sakai, Takahiro Yasumi, Takayuki Miyamoto, Ilia Voskoboinik, Kunio Hashimoto, Shirou Matsumoto, Shuichi Ozono, Hiroshi Moritake, Hidetoshi Takada, Shouichi Ohga
Familial hemophagocytic lymphohistiocytosis (FHLH) is a fatal hyperinflammation syndrome arising from the genetic defect of perforin-mediated cytolysis. Curative hematopoietic cell transplantation (HCT) is needed before development of central nervous system (CNS) disease. We studied treatment outcomes of 13 patients (FHLH2 n = 11, FHLH3 n = 2) consecutively diagnosed from 2011 to 2022 by flow cytometric screening for non-myeloablative HCT in a regional treatment network in Kyushu, Japan...
March 20, 2024: International Journal of Hematology
https://read.qxmd.com/read/38505727/congenital-cytomegalovirus-infection-in-a-preterm-infant-with-22q11-2-deletion-syndrome-and-immunological-abnormalities
#20
Yoshihiko Shitara, Etsushi Toyofuku, Hideki Doi, Takeo Mukai, Kohei Kashima, Satsuki Kakiuchi, Motohiro Kato, Naoto Takahashi
The 22q11.2 deletion syndrome has many complications; one of them is immunodeficiency. However, the time of onset and the degree of immunodeficiency can vary. We report a case of a preterm infant with congenital cytomegalovirus infection complicated with 22q11.2 deletion syndrome and immunological abnormalities. Ultrasonography revealed pulmonary atresia, ventricular septal defect, major aortopulmonary collateral artery, and thymic hypoplasia. His serum chemistry tests on admission revealed immunoglobulin G, A, and M levels of 1,547 mg/dL, 70 mg/dL, and 274 mg/dL, respectively...
February 2024: Nagoya Journal of Medical Science
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