keyword
https://read.qxmd.com/read/38628775/folate-gene-polymorphisms-cbs-844ins68-and-rfc1-a80g-and-risk-of-down-syndrome-offspring-in-young-iranian-women-a-cross-sectional-study
#1
JOURNAL ARTICLE
Neda Farajnezhad, Pegah Ghandil, Maryam Tahmasebi-Birgani, Javad Mohammadi-Asl
BACKGROUND: Cytogenetics and association studies showed that folate gene polymorphisms can increase the risk of chromosomal nondisjunction and aneuploidies. The folate-metabolizing gene polymorphisms in Down syndrome mothers (DSM) have been assessed in a variety of populations. Reduced folate carrier 1 ( RFC1 ) and cystathionine beta-synthase ( CBS ) are key enzymes in folate metabolism. OBJECTIVE: 2 common polymorphisms, CBS 844ins68 and RFC1 A80G, were analyzed to determine their probable risk for having Down syndrome (DS) babies in young mothers of Khuzestan province, Iran...
February 2024: International Journal of Reproductive Biomedicine (Yazd, Iran)
https://read.qxmd.com/read/38628264/mimickers-of-hypoxic-ischaemic-brain-injury-in-term-neonates-what-the-radiologist-should-know
#2
REVIEW
Shalendra K Misser, Moherndran Archary
UNLABELLED: Patterns of neonatal hypoxic-ischaemic brain injury (HIBI) are fairly well known. There are, however, other diagnoses with imaging patterns that may mimic HIBI. A review of MRI studies was conducted for children with suspected cerebral palsy, correlated with prior imaging, clinical details and laboratory tests where available. In the 63 identified cases, imaging features were, in many cases, very similar to the known patterns of HIBI. The alternative diagnoses can be classified as developmental, vascular, chromosomal, infections, metabolic disorders, and congenital syndromes...
2024: SA journal of radiology
https://read.qxmd.com/read/38617198/clinical-neuroimaging-and-metabolic-footprint-of-the-neurodevelopmental-disorder-caused-by-monoallelic-hk1-variants
#3
JOURNAL ARTICLE
Saskia B Wortmann, Rene G Feichtinger, Lucia Abela, Loes A van Gemert, Mélodie Aubart, Claire-Marine Dufeu-Berat, Nathalie Boddaert, Rene de Coo, Lara Stühn, Jasmijn Hebbink, Wolfram Heinritz, Julia Hildebrandt, Nastassja Himmelreich, Christoph Korenke, Anna Lehman, Thomas Leyland, Christine Makowski, Rafael Jenaro Martinez Marin, Pauline Marzin, Chris Mühlhausen, Marlène Rio, Agnes Rotig, Charles-Joris Roux, Manuel Schiff, Tobias B Haack, Steffen Syrbe, Stas A Zylicz, Christian Thiel, Maria Veiga da Cunha, Emile van Schaftingen, Matias Wagner, Johannes A Mayr, Ron A Wevers, Eugen Boltshauser, Michel A Willemsen
BACKGROUND AND OBJECTIVES: Hexokinase 1 (encoded by HK1 ) catalyzes the first step of glycolysis, the adenosine triphosphate-dependent phosphorylation of glucose to glucose-6-phosphate. Monoallelic HK1 variants causing a neurodevelopmental disorder (NDD) have been reported in 12 individuals. METHODS: We investigated clinical phenotypes, brain MRIs, and the CSF of 15 previously unpublished individuals with monoallelic HK1 variants and an NDD phenotype. RESULTS: All individuals had recurrent variants likely causing gain-of-function, representing mutational hot spots...
April 2024: Neurology. Genetics
https://read.qxmd.com/read/38616989/can-adipokine-fam19a5-be-a-biomarker-of-metabolic-disorders
#4
REVIEW
Agnieszka Wesołek-Leszczyńska, Katarzyna Pastusiak, Paweł Bogdański, Monika Szulińska
AIM: One of the most critical functions of adipose tissue is the production of adipokines, ie, numerous active substances that regulate metabolism. One is the newly discovered FAM19A5, whose older name is TAFA-5. PURPOSE: The study aimed to review the literature on the FAM19A5 protein. METHODS: The review was conducted in December 2023 using the PubMed (Medline) search engine. Sixty-four papers were included in the review. RESULTS: This protein exhibits the characteristics of an adipokine with positive features for maintaining homeostasis...
2024: Diabetes, Metabolic Syndrome and Obesity
https://read.qxmd.com/read/38612776/igf-1-and-igf-2-as-molecules-linked-to-causes-and-consequences-of-obesity-from-fetal-life-to-adulthood-a-systematic-review
#5
REVIEW
Justyna Szydlowska-Gladysz, Adrianna Edyta Gorecka, Julia Stepien, Izabela Rysz, Iwona Ben-Skowronek
This study examines the impact of insulin-like growth factor 1 (IGF-1) and insulin-like growth factor 2 (IGF-2) on various aspects of children's health-from the realms of growth and puberty to the nuanced characteristics of metabolic syndrome, diabetes, liver pathology, carcinogenic potential, and cardiovascular disorders. A comprehensive literature review was conducted using PubMed, with a Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) method employing specific keywords related to child health, obesity, and insulin-like growth factors...
April 2, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38610885/complete-blood-count-derived-inflammation-indexes-are-useful-in-predicting-metabolic-syndrome-in-children-and-adolescents-with-severe-obesity
#6
JOURNAL ARTICLE
Alice Marra, Adele Bondesan, Diana Caroli, Alessandro Sartorio
Background: Childhood obesity is a globally increasing pathological condition leading to long-term health issues such as cardiovascular diseases and metabolic syndrome (MetS). This study aimed to determine the clinical value of the Complete Blood Count-derived inflammation indexes Monocyte/HDL-C ratio (MHR), Lymphocyte/HDL-C ratio (LHR), Neutrophil/HDL-C ratio (NHR), and System Inflammation Response Index (SIRI) to predict the presence of metabolic syndrome and its association with cardiovascular risk markers (HOMA-IR, TG/HDL-C, and non-HDL-C) in children and adolescents with obesity...
April 5, 2024: Journal of Clinical Medicine
https://read.qxmd.com/read/38610024/lactation-duration-and-development-of-type-2-diabetes-and-metabolic-syndrome-in-postpartum-women-with-recent-gestational-diabetes-mellitus
#7
JOURNAL ARTICLE
Sasiwan Suthasmalee, Chadakarn Phaloprakarn
BACKGROUND: The World Health Organization and United Nations Children's Fund recommend exclusive breastfeeding (EBF) for the first six months of an infant's life. Although evidence suggests that maintaining breastfeeding has positive impacts on glucose and lipid metabolism in postpartum women with a history of gestational diabetes mellitus (GDM), no study has investigated whether such effects differ between breastfeeding intensities. This study aimed to evaluate the impact of maintaining breastfeeding on prediabetes, type 2 diabetes mellitus (T2DM), and metabolic syndrome (MetS) six months postpartum in women with GDM...
April 12, 2024: International Breastfeeding Journal
https://read.qxmd.com/read/38606414/an-alternative-approach-to-determining-metabolic-syndrome-component-cutoffs-in-children-and-adolescents-using-segmental-regression-analysis
#8
JOURNAL ARTICLE
Ayumi Miyazaki, Masao Yoshinaga, Hiromitsu Ogata, Yoshiya Ito, Machiko Aoki, Toshihide Kubo, Masaki Shinomiya, Hitoshi Horigome, Masakuni Tokuda, Lisheng Lin, Hideto Takahashi, Masami Nagashima
Background: The prevalence of metabolic syndrome is increasing in children and adolescents. Although some diagnostic criteria for metabolic syndrome exist, further research is needed to determine appropriate age-, sex-, and race-specific cutoffs for each component. Methods and Results: Health examinations were conducted in 1,679 children aged 6-15 years in 9 regions of Japan. Participants were divided into 3 age groups for each sex: 6-8, 9-11, and 12-15 years. For metabolic syndrome components in each group, inverse cumulative percentile graphs were drawn and approximated by 3 regression lines using segmented regression analysis...
April 10, 2024: Circulation reports
https://read.qxmd.com/read/38606357/review-of-childhood-genetic-nephrolithiasis-and-nephrocalcinosis
#9
REVIEW
Ashley M Gefen, Joshua J Zaritsky
Nephrolithiasis (NL) is a common condition worldwide. The incidence of NL and nephrocalcinosis (NC) has been increasing, along with their associated morbidity and economic burden. The etiology of NL and NC is multifactorial and includes both environmental components and genetic components, with multiple studies showing high heritability. Causative gene variants have been detected in up to 32% of children with NL and NC. Children with NL and NC are genotypically heterogenous, but often phenotypically relatively homogenous, and there are subsequently little data on the predictors of genetic childhood NL and NC...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38600231/-discharge-of-infants-with-complex-care-needs-from-the-neonatal-intensive-care-unit-ensuring-continued-inpatient-care-via-the-bunter-kreis-aftercare-model
#10
REVIEW
Stephanie Ballmann
After discharge of premature infants with complex care needs from the neonatal intensive care unit, a care gap arises due to the transition from inpatient to outpatient care. Consequences can be rehospitalization, revolving door effects, and high costs. Therefore, following hospitalization or inpatient rehabilitation, the patient is intended to transition to sociomedical aftercare. The legal basis for this is formed by § 43 paragraph 2 of the Fifth Book of the German Social Code (SGB V)...
April 10, 2024: Medizinische Klinik, Intensivmedizin und Notfallmedizin
https://read.qxmd.com/read/38590200/the-role-of-mesenchymal-stem-cells-in-early-programming-of-adipose-tissue-in-the-offspring-of-women-with-obesity
#11
REVIEW
Sofía Bellalta, Torsten Plösch, Marijke Faas, Paola Casanello
Maternal obesity is a well-known risk factor for developing premature obesity, metabolic syndrome, cardiovascular disease and type 2 diabetes in the progeny. The development of white adipose tissue is a dynamic process that starts during prenatal life: fat depots laid down in utero are associated with the proportion of fat in children later on. How early this programming takes place is still unknown. However, recent evidence shows that mesenchymal stem cells (MSC), the embryonic adipocyte precursor cells, show signatures of the early setting of an adipogenic committed phenotype when exposed to maternal obesity...
April 8, 2024: Pediatric Obesity
https://read.qxmd.com/read/38576015/association-of-maternal-exposure-to-endocrine-disruptor-chemicals-with-cardio-metabolic-risk-factors-in-children-during-childhood-a-systematic-review-and-meta-analysis-of-cohort-studies
#12
REVIEW
Mehran Rahimlou, Mir Ali Mousavi, Hossein Chiti, Mazyar Peyda, Seyedeh Neda Mousavi
BACKGROUND: In the present systematic review and meta-analysis, the association of maternal exposure to the endocrine disrupting chemicals (EDCs) with cardio-metabolic risk factors in children during childhood for the first time. METHOD: The PubMed, Scopus, EMBASE, and Web of Science databases were systematically searched, up to Feb 2023. In total 30 cohort studies had our inclusion criteria. A random-effects model was used for the variables that had considerable heterogeneity between studies...
April 4, 2024: Diabetology & Metabolic Syndrome
https://read.qxmd.com/read/38575384/respiratory-distress-syndrome-rds-in-newborns-with-hypoxic-ischemic-encephalopathy-hie
#13
JOURNAL ARTICLE
Sanja Ristovska
Respiratory distress syndrome (RDS) and hypoxic-ischemic encephalopathy (HIE) are frequent causes of death and disability in neonates. This study included newborns between January 2021 and July 2022 at the University Clinic for Gynecology and Obstetrics, Skopje. Up to date criteria for HIE/RDS for term and for preterm infants as well for the severity of HIE/RDS were used in a comprehensive analysis of cranial ultrasonography, neurological status, neonatal infections, Apgar score, bradycardia and hypotension, X-ray of the lungs, FiO2, acid-base status, assisted ventilation and use of surfactant...
March 1, 2024: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://read.qxmd.com/read/38571914/fish-a-scoping-review-for-nordic-nutrition-recommendations-2023
#14
REVIEW
Johanna E Torfadottir, Stine M Ulven
The aim of this scoping review was to conduct evidence-based documentation between fish intake and health outcomes for food-based dietary guidelines (FBDGs) in the Nordic Nutrition Recommendations (NNR) 2023. For most health outcomes, the evidence for fish oil and n-3 long chain (LC) polyunsaturated fatty acids (PUFA) supplementation was included when examining evidence between fish intake and health. In this review, conclusions from qualified systematic reviews (qSR) approved by NNR2023 are included. In addition, conclusions of a de novo systematic reviews on the topic of n-3 LC-PUFA, asthma, and allergy are included...
2024: Food & Nutrition Research
https://read.qxmd.com/read/38571879/a-novel-mitochondrial-dna-variant-in-mt-nd6-m-14430a-c-p-trp82gly-identified-in-a-patient-with-leigh-syndrome-and-complex-i-deficiency
#15
JOURNAL ARTICLE
Surita Meldau, Sally Ackermann, Gillian Riordan, George F van der Watt, Careni Spencer, Sharika Raga, Kashief Khan, Dee M Blackhurst, Francois H van der Westhuizen
Leigh syndrome is a severe progressive mitochondrial disorder mainly affecting children under the age of 5 years. It is caused by pathogenic variants in any one of more than 75 known genes in the nuclear or mitochondrial genomes. A 19-week-old male infant presented with lactic acidosis and encephalopathy following a 2-week history of irritability, neuroregression and poor weight gain. He was hypotonic with pathological reflexes, impaired vision, and nystagmus. Brain MRI showed extensive bilateral symmetrical T2 hyperintense lesions in basal ganglia, thalami, and brainstem...
June 2024: Molecular Genetics and Metabolism Reports
https://read.qxmd.com/read/38569788/fish-oil-supplementation-during-pregnancy-anthropometrics-and-metabolic-health-at-age-ten-a-randomized-clinical-trial
#16
RANDOMIZED CONTROLLED TRIAL
Rebecca K Vinding, Astrid Sevelsted, David Horner, Nilofar Vahman, Lotte Lauritzen, Casper P Hagen, Bo Chawes, Jakob Stokholm, Klaus Bønnelykke
BACKGROUND: We previously reported that children of mothers who received fish oil supplementation during pregnancy had higher body mass index [BMI (in kg/m2 )] at 6 y of age as well as a concomitant increase in fat-, muscle, and bone mass, but no difference in fat percentage. OBJECTIVES: Here, we report follow-up at age 10 y including assessment of metabolic health. METHODS: This is a follow-up analysis of a randomized clinical trial conducted among 736 pregnant females and their offspring participating in the Copenhagen Prospective Studies on Asthma in Childhood mother-child cohort...
April 2024: American Journal of Clinical Nutrition
https://read.qxmd.com/read/38568210/does-an-episode-of-diabetic-ketoacidosis-affect-thyroid-function-tests-in-pediatric-patients
#17
JOURNAL ARTICLE
Gülhan Atakul, Huseyin Anıl Korkmaz, Ahmet Gönüllü, Özlem Saraç Sandal, Özge Köprülü, Nilüfer Uyar, Utku Karaaslan, Hurşit Apa, Hasan Ağın, Behzat Özkan
OBJECTIVES: The aim of our study was to investigate the changes in thyroid hormone levels during and after acute metabolic disorder in patients with diabetic ketoacidosis (DKA). METHODS: Eighty five patients diagnosed with DKA were included in the study. Patients with control thyroid function test (TFT) values at admission (the first blood sample) and 1 month later were included in the study. Thyroid function tests obtained during diabetic ketoacidosis and at the first month follow-up were compared...
April 4, 2024: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://read.qxmd.com/read/38558281/poorly-controlled-pediatric-type-1-diabetes-mellitus-is-a-risk-factor-for-metabolic-dysfunction-associated-steatotic-liver-disease-masld-an-observational-study
#18
JOURNAL ARTICLE
Florian Koutny, Dagobert Wiemann, Alexander Eckert, Svenja Meyhöfer, Maria Fritsch, Angeliki Pappa, Susanna Wiegand, Marc Weyer, Michael Wurm, Daniel Weghuber, Reinhard W Holl
OBJECTIVES: Recent studies have suggested a link between type 1 diabetes mellitus (T1D) and metabolic dysfunction associated steatotic liver disease (MASLD) in children and adolescent, but longitudinal evidence is lacking. This study aimed to investigate the potential association between poorly controlled T1D and elevated alanine aminotransferase (ALT), serving as a proxy for MASLD in children and adolescents over time. METHODS: The study included 32,325 children aged 2-17 years with T1D from Germany, Austria, and Switzerland who had undergone at least one assessment of liver enzyme levels recorded in the Diabetes-Patienten- Verlaufsdokumentation registry...
April 1, 2024: Journal of Pediatric Gastroenterology and Nutrition
https://read.qxmd.com/read/38557385/-advances-in-nutritional-support-for-children-undergoing-hematopoietic-stem-cell-transplantation
#19
JOURNAL ARTICLE
Ting Zhang, Mi-Zu Jiang
Hematopoietic stem cell transplantation (HSCT) is a therapeutic option for various potentially life-threatening malignant and non-malignant diseases in children, such as malignancies, immunodeficiency syndromes, severe aplastic anemia, and inherited metabolic disorders. During transplantation, many factors can affect the nutritional status of the children, including radiotherapy, chemotherapy, gastrointestinal disorders, graft-versus-host disease, and medications. Malnutrition has been associated with decreased overall survival and increased complications in children undergoing HSCT, making nutritional support a crucial component of their management...
March 15, 2024: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://read.qxmd.com/read/38545313/the-role-of-adipokines-and-ghrelin-in-interactions-and-clinical-implications-in-childhood-obesity
#20
JOURNAL ARTICLE
Karrar Haider Haddawi, Ahmed Ghdhban Al-Ziaydi, Fatima Abd Al-Kathem Al-Khalidi
BACKGROUND: Childhood obesity is a growing global health concern, especially prevalent in the Arabian Peninsula, and is known to contribute to metabolic syndrome and insulin resistance. This study aimed to investigate the interplay between adipokines (leptin and adiponectin), ghrelin, and insulin homeostasis in childhood obesity. MATERIAL AND METHODS: A case-control study was conducted in Babylon involving 120 children/adolescents (7-17 years). The participants were divided into two groups: 60 obese and 60 healthy controls...
2024: Journal of Education and Health Promotion
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