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/38535124/future-of-dutch-ngs-based-newborn-screening-exploring-the-technical-possibilities-and-assessment-of-a-variant-classification-strategy
#2
JOURNAL ARTICLE
Gea Kiewiet, Dineke Westra, Eddy N de Boer, Emma van Berkel, Tom G J Hofste, Martine van Zweeden, Ronny C Derks, Nico F A Leijsten, Martina H A Ruiterkamp-Versteeg, Bart Charbon, Lennart Johansson, Janneke Bos-Kruizinga, Inge J Veenstra, Monique G M de Sain-van der Velden, Els Voorhoeve, M Rebecca Heiner-Fokkema, Francjan van Spronsen, Birgit Sikkema-Raddatz, Marcel Nelen
In this study, we compare next-generation sequencing (NGS) approaches (targeted panel (tNGS), whole exome sequencing (WES), and whole genome sequencing (WGS)) for application in newborn screening (NBS). DNA was extracted from dried blood spots (DBS) from 50 patients with genetically confirmed inherited metabolic disorders (IMDs) and 50 control samples. One hundred IMD-related genes were analyzed. Two data-filtering strategies were applied: one to detect only (likely) pathogenic ((L)P) variants, and one to detect (L)P variants in combination with variants of unknown significance (VUS)...
March 7, 2024: International Journal of Neonatal Screening
https://read.qxmd.com/read/38533773/myricetin-oligomer-triggers-multi-receptor-mediated-penetration-and-autophagic-restoration-of-blood-brain-barrier-for-ischemic-stroke-treatment
#3
JOURNAL ARTICLE
Lei Liu, Zhifang Ma, Qiaoyi Han, Wei Meng, Haozheng Wang, Xinghua Guan, Qiang Shi
Restoration of blood-brain barrier (BBB) dysfunction, which drives worse outcomes of ischemic stroke, is a potential target for therapeutic opportunities, whereas a sealed BBB blocks the therapeutics entrance into the brain, making the BBB protection strategy paradoxical. Post ischemic stroke, hypoxia/hypoglycemia provokes the up-regulation of transmembrane glucose transporters and iron transporters due to multiple metabolic disorders, especially in brain endothelial cells. Herein, we develop a myricetin oligomer-derived nanostructure doped with Ce to bypass the BBB which is cointermediated by glucose transporters and iron transporters such as glucose transporters 1 (GLUT1), sodium/glucose cotransporters 1 (SGLT1), and transferrin(Tf) reporter (TfR)...
March 27, 2024: ACS Nano
https://read.qxmd.com/read/38531017/clinical-characteristics-developmental-trajectory-and-caregiver-burden-of-patients-with-creatine-transporter-deficiency-slc6a8
#4
JOURNAL ARTICLE
Aurore Curie, Laurence Lion-François, Vassili Valayannopoulos, Nathalie Perreton, Marie Gavanon, Nathalie Touil, Amandine Brun-Laurisse, Fahra Gheurbi, Marion Buchy, Hulya Halep, David Cheillan, Catherine Mercier, Anaïs Brassier, Béatrice Desnous, Behrouz Kassai, Pascale De Lonlay, Vincent Des Portes
BACKGROUND AND OBJECTIVES: Creatine transporter deficiency (CTD) is a rare X-linked genetic disorder characterized by intellectual disability (ID). We evaluated the clinical characteristics and trajectory of patients with CTD and the impact of the disease on caregivers to identify relevant endpoints for future therapeutic trials. METHODS: As part of a French National Research Program, patients with CTD were included based on (1) a pathogenic SLC6A8 variant and (2) ID and/or autism spectrum disorder...
April 23, 2024: Neurology
https://read.qxmd.com/read/38528255/signatures-of-metabolic-diseases-on-spermatogenesis-and-testicular-metabolism
#5
REVIEW
David F Carrageta, Sara C Pereira, Rita Ferreira, Mariana P Monteiro, Pedro F Oliveira, Marco G Alves
Diets leading to caloric overload are linked to metabolic disorders and reproductive function impairment. Metabolic and hormonal abnormalities stand out as defining features of metabolic disorders, and substantially affect the functionality of the testis. Metabolic disorders induce testicular metabolic dysfunction, chronic inflammation and oxidative stress. The disruption of gastrointestinal, pancreatic, adipose tissue and testicular hormonal regulation induced by metabolic disorders can also contribute to a state of compromised fertility...
March 25, 2024: Nature Reviews. Urology
https://read.qxmd.com/read/38528055/decreased-calcium-permeability-caused-by-biallelic-trpv5-mutation-leads-to-autosomal-recessive-renal-calcium-wasting-hypercalciuria
#6
JOURNAL ARTICLE
Naz Guleray Lafci, Mark van Goor, Semra Cetinkaya, Jenny van der Wijst, Melisa Acun, Fatma Kurt Colak, Arda Cetinkaya, Joost Hoenderop
Hypercalciuria is the most common metabolic risk factor in people with kidney stone disease. Its etiology is mostly multifactorial, although monogenetic causes of hypercalciuria have also been described. Despite the increased availability of genetic diagnostic tests, the vast majority of individuals with familial hypercalciuria remain unsolved. In this study, we investigated a consanguineous pedigree with idiopathic hypercalciuria. The proband additionally exhibited severe skeletal deformities and hyperparathyroidism...
March 25, 2024: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/38521863/a-defined-diet-for-pre-adult-drosophila-melanogaster
#7
JOURNAL ARTICLE
Felipe Martelli, Annelise Quig, Sarah Mele, Jiayi Lin, Tahlia L Fulton, Mia Wansbrough, Christopher K Barlow, Ralf B Schittenhelm, Travis K Johnson, Matthew D W Piper
Drosophila melanogaster is unique among animal models because it has a fully defined synthetic diet available to study nutrient-gene interactions. However, use of this diet is limited to adult studies due to impaired larval development and survival. Here, we provide an adjusted formula that reduces the developmental period, restores fat levels, enhances body mass, and fully rescues survivorship without compromise to adult lifespan. To demonstrate an application of this formula, we explored pre-adult diet compositions of therapeutic potential in a model of an inherited metabolic disorder affecting the metabolism of branched-chain amino acids...
March 23, 2024: Scientific Reports
https://read.qxmd.com/read/38520815/vitamin-deficiencies-in-children-lessons-from-clinical-and-neuroimaging-findings
#8
JOURNAL ARTICLE
Gabrielle Dupuy, Charles-Joris Roux, Rémi Barrois, Apolline Imbard, Clément Pontoizeau, Marie Thérèse Dangles, Mélodie Aubart, Jean-Baptiste Arnoux, Diane Margoses, Anaïs Brassier, Clothilde Marbach, Claire-Marine Bérat, Eugénie Sarda, Cyril Gitiaux, Pascale de Lonlay, Nathalie Boddaert, Manuel Schiff, Isabelle Desguerre
BACKGROUND AND AIMS: Water-soluble vitamins play an essential coenzyme role in the nervous system. Acquired vitamin deficiencies are easily treatable, however, without treatment, they can lead to irreversible complications. This study aimed to provide clinical, laboratory parameters and neuroimaging data on vitamin deficiencies in an attempt to facilitate early diagnosis and prompt supplementation. METHODS: From July 1998 to July 2023, patients at Necker-Enfants-Malades Hospital presenting with acute neurological symptoms attributed to acquired vitamin deficiency were included...
February 26, 2024: European Journal of Paediatric Neurology: EJPN
https://read.qxmd.com/read/38515346/new-insight-of-chemical-constituents-in-persea-americana-fruit-against-obesity-via-integrated-pharmacology
#9
JOURNAL ARTICLE
Min-Gi Cha, Su-Been Lee, Sang-Jun Yoon, Sang Youn Lee, Haripriya Gupta, Raja Ganesan, Satya Priya Sharma, Sung-Min Won, Jin-Ju Jeong, Dong Joon Kim, Ki-Kwang Oh, Ki-Tae Suk
Persea americana fruit (PAF) is a favorable nutraceutical resource that comprises diverse unsaturated fatty acids (UFAs). UFAs are significant dietary supplementation, as they relieve metabolic disorders, including obesity (OB). In another aspect, this study was focused on the anti-OB efficacy of the non-fatty acids (NFAs) in PAF through network pharmacology (NP). Natural product activity & species source (NPASS), SwissADME, similarity ensemble approach (SEA), Swiss target prediction (STP), DisGeNET, and online Mendelian inheritance in man (OMIM) were utilized to gather significant molecules and its targets...
March 2024: Clinical and Translational Science
https://read.qxmd.com/read/38514919/bioprinting-soft-3d-models-of-hematopoiesis-using-natural-silk-fibroin-based-bioink-efficiently-supports-platelet-differentiation
#10
JOURNAL ARTICLE
Christian Andrea Di Buduo, Marco Lunghi, Volodymyr Kuzmenko, Pierre-Alexandre Laurent, Giulia Della Rosa, Claudia Del Fante, Damian Edward Dalle Nogare, Florian Jug, Cesare Perotti, Koji Eto, Alessandro Pecci, Itedale Namro Redwan, Alessandra Balduini
Hematopoietic stem and progenitor cells (HSPCs) continuously generate platelets throughout one's life. Inherited Platelet Disorders affect ≈ 3 million individuals worldwide and are characterized by defects in platelet formation or function. A critical challenge in the identification of these diseases lies in the absence of models that facilitate the study of hematopoiesis ex vivo. Here, a silk fibroin-based bioink is developed and designed for 3D bioprinting. This bioink replicates a soft and biomimetic environment, enabling the controlled differentiation of HSPCs into platelets...
March 21, 2024: Advanced Science (Weinheim, Baden-Wurttemberg, Germany)
https://read.qxmd.com/read/38508775/adult-classic-bartter-syndrome-a-case-report-with-5-year-follow-up-and-literature-review
#11
JOURNAL ARTICLE
Le Jiang, Dongmei Li, Qiansha Guo, Yunfeng Li, Lei Zan, Rihan Ao
Bartter syndrome (BS) is a rare, inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism, hypokalemia, hypochloremia, metabolic alkalosis, and low-to-normal blood pressure. Classic BS, or BS Type 3, the most common subtype in the Asian population, is caused by a molecular defect in ClC-Kb, a voltage-gated chloride channel in renal tubules, due to CLCNKB gene mutation. Because the onset of BS is more common in children than in adults, the diagnosis, treatment outcomes, genotype/phenotype association, and follow-up of adult-onset BS Type 3 are limited...
March 19, 2024: Endocrine Journal
https://read.qxmd.com/read/38503330/clinical-landscape-of-citrin-deficiency-a-global-perspective-on-a-multifaceted-condition
#12
JOURNAL ARTICLE
Jun Kido, Georgios Makris, Saikat Santra, Johannes Häberle
Citrin deficiency is an autosomal recessive disorder caused by a defect of citrin resulting from mutations in SLC25A13. The clinical manifestation is very variable and comprises three types: neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD: OMIM 605814), post-NICCD including failure to thrive and dyslipidemia caused by citrin deficiency, and adult-onset type II citrullinemia (CTLN2: OMIM 603471). Frequently, NICCD can run with a mild clinical course and manifestations may resolve in the post-NICCD...
March 19, 2024: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/38500810/case-report-a-novel-acta1-variant-in-a-patient-with-nemaline-rods-and-increased-glycogen-deposition
#13
Daniela Piga, Martina Rimoldi, Francesca Magri, Simona Zanotti, Laura Napoli, Michela Ripolone, Serena Pagliarani, Patrizia Ciscato, Daniele Velardo, Adele D'Amico, Enrico Bertini, Giacomo Pietro Comi, Dario Ronchi, Stefania Corti
BACKGROUND: Congenital myopathies are a group of heterogeneous inherited disorders, mainly characterized by early-onset hypotonia and muscle weakness. The spectrum of clinical phenotype can be highly variable, going from very mild to severe presentations. The course also varies broadly resulting in a fatal outcome in the most severe cases but can either be benign or lead to an amelioration even in severe presentations. Muscle biopsy analysis is crucial for the identification of pathognomonic morphological features, such as core areas, nemaline bodies or rods, nuclear centralizations and congenital type 1 fibers disproportion...
2024: Frontiers in Neurology
https://read.qxmd.com/read/38499966/the-continuously-evolving-phenotype-of-succinic-semialdehyde-dehydrogenase-deficiency
#14
JOURNAL ARTICLE
Natalia Alexandra Julia-Palacios, Oya Kuseyri Hübschmann, Mireia Olivella, Roser Pons, Gabriella Horvath, Thomas Lücke, Cheuk-Wing Fung, Suet-Na Wong, Elisenda Cortès-Saladelafont, M Mar Rovira-Remisa, Yılmaz Yıldız, Saadet Mercimek-Andrews, Birgit Assmann, Galina Stevanović, Filippo Manti, Heiko Brennenstuhl, Sabine Jung-Klawitter, Kathrin Jeltsch, H Serap Sivri, Sven F Garbade, Àngels García-Cazorla, Thomas Opladen
The objective of the study is to evaluate the evolving phenotype and genetic spectrum of patients with succinic semialdehyde dehydrogenase deficiency (SSADHD) in long-term follow-up. Longitudinal clinical and biochemical data of 22 pediatric and 9 adult individuals with SSADHD from the patient registry of the International Working Group on Neurotransmitter related Disorders (iNTD) were studied with in silico analyses, pathogenicity scores and molecular modeling of ALDH5A1 variants. Leading initial symptoms, with onset in infancy, were developmental delay and hypotonia...
March 18, 2024: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/38499319/genetic-aetiologies-of-acute-liver-failure
#15
REVIEW
Robert Hegarty, Richard J Thompson
Acute liver failure (ALF) is a rare, rapidly evolving, clinical syndrome with devastating consequences where definitive treatment is by emergency liver transplantation. Establishing a diagnosis can be challenging and, historically, the cause of ALF was unidentified in up to half of children. However, recent technological and clinical advances in genomic medicine have led to an increasing proportion being diagnosed with monogenic aetiologies of ALF. The conditions encountered include a diverse group of inherited metabolic disorders each with prognostic and treatment implications...
March 18, 2024: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/38496077/a-case-of-hypofractionated-radiation-therapy-for-early-stage-breast-cancer-in-a-patient-with-fabry-disease
#16
Motoki Honda, Yojiro Ishikawa, Kengo Ito, Satoshi Teramura, Seki Yasuhiro, Takayuki Yamada
Fabry disease is a metabolic disorder caused by a deficiency in lysosomal enzymes and is inherited as an X-chromosomal disorder. Patients with Fabry disease have a low incidence of cancer, and reports of malignant tumors, especially in the thoracic region, are rare. In this case report, we describe our experience with radiation therapy following breast-conserving surgery in a patient with left breast cancer and Fabry disease, and we review the existing literature. The patient, a woman in her 40s, required postoperative irradiation for left breast cancer (pT1N0M0)...
February 2024: Curēus
https://read.qxmd.com/read/38495824/dysregulated-lysosomal-exocytosis-drives-protease-mediated-cartilage-pathogenesis-in-multiple-lysosomal-disorders
#17
JOURNAL ARTICLE
Jen-Jie Lee, Tong Wang, Kali Wiggins, Po Nien Lu, Christina Underwood, Katarzyna Ochenkowska, Eric Samarut, Laura M Pollard, Heather Flanagan-Steet, Richard Steet
The classic view of the lysosome as a static recycling center has been replaced with one of a dynamic and mobile hub of metabolic regulation. This revised view raises new questions about how dysfunction of this organelle causes pathology in inherited lysosomal disorders. Here we provide evidence for increased lysosomal exocytosis in the developing cartilage of three lysosomal disease zebrafish models with distinct etiologies. Dysregulated exocytosis was linked to altered cartilage development, increased activity of multiple cathepsin proteases, and cathepsin- and TGFβ-mediated pathogenesis in these models...
April 19, 2024: IScience
https://read.qxmd.com/read/38490313/sudden-death-with-cardiac-involvement-in-a-neonate-with-carnitine-acylcarnitine-translocase-deficiency
#18
Dongfang Qiao, Jiayu Jing, Cui Zhang, Sihao Du, Xiaohui Tan, Xia Yue
A female neonate born with normal Apgar scores at 38+2 weeks of gestational age unexpectedly passed away within less than 30 hours after birth. The situation mirrors her brother's earlier demise within 24 hours post-delivery, suggesting a possible genetic disorder. A gross examination revealed widespread cyanosis and distinct yellowish changes on the cardiac ventricles. Histopathological analysis disclosed lipid accumulation in the liver, heart, and kidney. Tandem mass spectrometry detected elevated levels of 10 amino acids and 14 carnitines in cardiac blood...
March 13, 2024: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://read.qxmd.com/read/38487984/hepatobiliary-circulation-and-dominant-urinary-excretion-of-homogentisic-acid-in-a-mouse-model-of-alkaptonuria
#19
JOURNAL ARTICLE
B P Norman, H Sutherland, P J M Wilson, D A Rutland, A M Milan, A T Hughes, A S Davison, M Khedr, J C Jarvis, J A Gallagher, G Bou-Gharios, L R Ranganath
Altered activity of specific enzymes in phenylalanine-tyrosine (phe-tyr) metabolism results in incomplete breakdown of various metabolite substrates in this pathway. Increased biofluid concentration and tissue accumulation of the phe-tyr pathway metabolite homogentisic acid (HGA) is central to pathophysiology in the inherited disorder alkaptonuria (AKU). Accumulation of metabolites upstream of HGA, including tyrosine, occurs in patients on nitisinone, a licenced drug for AKU and hereditary tyrosinaemia type 1, which inhibits the enzyme responsible for HGA production...
March 15, 2024: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/38487885/a-multi-dimensional-data-mining-based-study-on-the-prescriptions-developed-by-professor-xu-zhiyin-in-treating-thyroid-nodules
#20
JOURNAL ARTICLE
Hai-Jian Sun, Xiao-Man Wei, Ming Lu, Hong Zhu, Yao Zhu
OBJECTIVE: In this study, we employed a multi-dimensional data mining approach to examine the clinical instances where Professor Xu Zhiyin treated thyroid nodules. Our aim is to understand the patterns of symptoms, underlying causes, and treatment approaches used for thyroid nodules. By doing so, the intention is to distill the essential aspects, compile Professor Xu Zhiyin's clinical insights, and investigate his scholarly perspectives. METHODS: Professor Xu Zhiyin's clinical diagnoses and treatments spanning from 2009 to 2019 were entered into Microsoft Excel...
November 20, 2023: Endocrine, Metabolic & Immune Disorders Drug Targets
keyword
keyword
121117
1
2
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.