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Inherited metabolic diseases

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https://www.readbyqxmd.com/read/29450819/familial-hypercholesterolemia-cascade-screening-in-children-and-relatives-of-the-affected
#1
Nitika Setia, Renu Saxena, J P S Sawhney, Ishwar C Verma
OBJECTIVE: Familial Hypercholesterolemia (FH) is an inherited disorder of lipid metabolism characterized by very high low density lipoprotein (LDL) cholesterol since birth, resulting in premature atherosclerosis and coronary artery disease (CAD). Cascade screening of children and family members of proven FH individuals can identify more subjects who have high LDL cholesterol or the family mutation and appropriate intervention can reduce their risk of atherosclerosis and prevent its complications...
February 15, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29450776/modulatory-role-of-gstt1-and-gstm1-in-punjabi-agricultural-workers-exposed-to-pesticides
#2
Meenakshi Ahluwalia, Anupam Kaur
Glutathione S-transferases are important detoxification enzymes involved in the metabolism of endogenous as well as exogenous compounds. Individuals differ in metabolic capacity due to inherited genetic variations. Due to the polymorphism exhibited by GSTT1 and GSTM1 that results in the complete loss of function, the present study was aimed towards the determination of the frequency distribution of GSTT1 and GSTM1 in agricultural workers in Punjab, India. The study aimed to investigate their contribution in susceptibility to increased disease risk...
February 15, 2018: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/29449893/endoplasmic-reticulum-stress-activation-in-adipose-tissue-induces-metabolic-syndrome-in-individuals-with-familial-partial-lipodystrophy-of-the-dunnigan-type
#3
Maria C Foss-Freitas, Rafael C Ferraz, Luciana Z Monteiro, Patricia M Gomes, Ricardo Iwakura, Luiz Carlos C de Freitas, Milton C Foss
Background: Familial partial lipodystrophy of the Dunnigan type is one of the most common inherited lipodystrophies variables. These individuals have important metabolic disorders that cause predisposition to various diseases. In this study we aimed to demonstrate the relation between the metabolic abnormalities, inflammatory profile and the expression of genes involved in the activation of the endoplasmic reticulum stress (ERS) in subjects with FPLD. Methods: We evaluated 14 female FPLD patients and compared with 13 female healthy individuals...
2018: Diabetology & Metabolic Syndrome
https://www.readbyqxmd.com/read/29448188/genotype-phenotype-and-in-silico-pathogenicity-analysis-of-hexb-mutations-panel-based-sequencing-for-differential-diagnosis-of-gangliosidosis
#4
Nejat Mahdieh, Sahar Mikaeeli, Ali Reza Tavasoli, Zahra Rezaei, Majid Maleki, Bahareh Rabbani
OBJECTIVES: Gangliosidosis is an inherited metabolic disorder causing neurodegeneration and motor regression. Preventive diagnosis is the first choice for the affected families due to lack of straightforward therapy. Genetic studies could confirm the diagnosis and help families for carrier screening and prenatal diagnosis. An update of HEXB gene variants concerning genotype, phenotype and in silico analysis are presented. PATIENTS AND METHODS: Panel based next generation sequencing and direct sequencing of four cases were performed to confirm the clinical diagnosis and for reproductive planning...
February 8, 2018: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29443755/argininemia-as-a-cause-of-severe-chronic-stunting-and-partial-growth-hormone-deficiency-pghd-a-case-report
#5
Xiaotang Cai, Dan Yu, Yongmei Xie, Hui Zhou
RATIONALE: Argininemia is an autosomal recessive inherited disorder of the urea cycle. Because of its atypical symptoms in early age, diagnosis can be delayed until the typical chronic manifestations - including spastic diplegia, deterioration in cognitive function, and epilepsy - appear in later childhood. PATIENT CONCERNS: A Chinese boy initially presented with severe stunting and partial growth hormone deficiency (PGHD) at 3 years old and was initially treated with growth hormone replacement therapy...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29433939/targeted-mrna-therapy-for-ornithine-transcarbamylase-deficiency
#6
Mary G Prieve, Pierrot Harvie, Sean D Monahan, Debashish Roy, Allen G Li, Teri L Blevins, Amber E Paschal, Matt Waldheim, Eric C Bell, Anna Galperin, Jean-Rene Ella-Menye, Michael E Houston
We describe a novel, two-nanoparticle mRNA delivery system and show that it is highly effective as a means of intracellular enzyme replacement therapy (i-ERT) using a murine model of ornithine transcarbamylase deficiency (OTCD). Our Hybrid mRNA Technology delivery system (HMT) comprises an inert lipid nanoparticle that protects the mRNA from nucleases in the blood as it distributes to the liver and a polymer micelle that targets hepatocytes and triggers endosomal release of mRNA. This results in high-level synthesis of the desired protein specifically in the liver...
January 4, 2018: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/29429461/-gene-mutations-in-unexplained-infantile-epileptic-encephalopathy-an-analysis-of-47-cases
#7
Chun-Miao Wei, Gui-Zhi Xia, Rong-Na Ren
OBJECTIVE: To investigate the characteristics of gene mutations in unexplained infantile epileptic encephalopathy (EE). METHODS: A total of 47 infants with unexplained infantile EE were enrolled, and next-generation sequencing was used to analyze gene mutations in these infants and their parents. RESULTS: Of all 47 infants, 23 were found to have gene mutations, among whom 13 had de novo mutations and 10 had heterozygous mutations inherited from their father or mother...
February 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29429458/-burkholderia-cepacia-infection-in-children-a-clinical-analysis-of-16-cases
#8
Fang Peng, Li-Li Zhong, Xiao-Juan Lin, Min Chen, Miao Zhou
OBJECTIVE: To investigate the distribution characteristics and clinical features of Burkholderia cepacia infection in children. METHODS: A retrospective analysis was performed for the clinical data of 16 children with Burkholderia cepacia infection who were hospitalized between June 2012 and September 2017. RESULTS: All 16 children with Burkholderia cepacia infection were sporadic cases. A total of 16 strains of Burkholderia cepacia were isolated, among which 8 were detected by sputum culture, 5 were detected by blood culture, 2 were detected by tracheal intubation tip culture, and 1 was detected by lung biopsy culture...
February 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29428299/g6pc-mrna-therapy-positively-regulates-fasting-blood-glucose-and-decreases-liver-abnormalities-in-a-mouse-model-of-glycogen-storage-disease-1a
#9
Daniel S Roseman, Tayeba Khan, Fabienne Rajas, Lucy S Jun, Kirtika H Asrani, Cleo Isaacs, Jeremiah D Farelli, Romesh R Subramanian
Glycogen storage disease type Ia (GSD1a) is an inherited metabolic disorder caused by the deficiency of glucose-6-phosphatase (G6Pase). GSD1a is associated with life-threatening hypoglycemia and long-term liver and renal complications. We examined the efficacy of mRNA-encoding human G6Pase in a liver-specific G6Pase -/- mouse model (L-G6PC -/- ) that exhibits the same hepatic biomarkers associated with GSD1a patients, such as fasting hypoglycemia, and elevated levels of hepatic glucose-6-phosphate (G6P), glycogen, and triglycerides...
January 31, 2018: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/29424482/zinc-deficiency-like-syndrome-in-fleckvieh-calves-clinical-and-pathological-findings-and-differentiation-from-bovine-hereditary-zinc-deficiency
#10
M C Langenmayer, S Jung, M Majzoub-Altweck, F M Trefz, C Seifert, G Knubben-Schweizer, R Fries, W Hermanns, N S Gollnick
BACKGROUND: Zinc deficiency-like (ZDL) syndrome is an inherited defect of Fleckvieh calves, with striking similarity to bovine hereditary zinc deficiency (BHZD). However, the causative mutation in a phospholipase D4 encoding gene (PLD4) shows no connection to zinc metabolism. OBJECTIVES: To describe clinical signs, laboratory variables, and pathological findings of ZDL syndrome and their utility to differentiate ZDL from BHZD and infectious diseases with similar phenotype...
February 9, 2018: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/29424410/-diabetes-mellitus-caused-by-a-mutation-of-glucokinase-gene-report-of-an-affected-family
#11
Felipe Pollak C, Marcela Lagos L, José L Santos M, Helena Poggi, Abraham Urzúa C, Hana Rumié C
Maturity-Onset Diabetes of the Young (MODY) refers to a heterogeneous group of monogenic diabetes. Unlike other types of MODY characterized by genetic defects in transcription factors, MODY 2 is triggered by metabolic alterations caused by mutations of glucokinase (GCK), the first enzyme of the glycolytic pathway. We report a three-generation Chilean family with multiple cases affected with this disease. The index case is a patient who presented severe neonatal hyperglycemia (831 mg/dl, without ketosis) requiring continuous infusion of insulin, which was suspended after 48 hours with normalization of blood glucose...
September 2017: Revista Médica de Chile
https://www.readbyqxmd.com/read/29417983/rare-genetically-conditioned-forms-of-rickets-differential-diagnosis-and-advances-in-diagnostics-and-treatment
#12
REVIEW
I Michałus, A Rusińska
Apart from the classic forms of rickets, there are rare genetic disorders from the group of vitamin D-resistant rickets where the clinical picture is very similar to the classic forms. Diagnosis of genetically conditioned rickets is often delayed. It is very important to know that a disorder of genetic background may be the cause of the failure of classic treatment in patients with rachitic symptoms. In the group of genetically conditioned rickets there are, among others, congenital hypophosphatemic rickets and vitamin D-dependent rickets type I and II...
February 8, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29415500/impact-characterization-and-rescue-of-pre-mrna-splicing-mutations-in-lysosomal-storage-disorders
#13
REVIEW
Andrea Dardis, Emanuele Buratti
Lysosomal storage disorders (LSDs) represent a group of more than 50 severe metabolic diseases caused by the deficiency of specific lysosomal hydrolases, activators, carriers, or lysosomal integral membrane proteins, leading to the abnormal accumulation of substrates within the lysosomes. Numerous mutations have been described in each disease-causing gene; among them, about 5-19% affect the pre-mRNA splicing process. In the last decade, several strategies to rescue/increase normal splicing of mutated transcripts have been developed and LSDs represent excellent candidates for this type of approach: (i) most of them are inherited in an autosomic recessive manner and patients affected by late-onset (LO) phenotypes often retain a fair amount of residual enzymatic activity; thus, even a small recovery of normal splicing may be beneficial in clinical settings; (ii) most LSDs still lack effective treatments or are currently treated with extremely expensive approaches; (iii) in few LSDs, a single splicing mutation accounts for up to 40-70% of pathogenic alleles...
February 6, 2018: Genes
https://www.readbyqxmd.com/read/29411170/the-potential-of-antisense-oligonucleotide-therapies-for-inherited-childhood-lung-diseases
#14
REVIEW
Kelly M Martinovich, Nicole C Shaw, Anthony Kicic, André Schultz, Sue Fletcher, Steve D Wilton, Stephen M Stick
Antisense oligonucleotides are an emerging therapeutic option to treat diseases with known genetic origin. In the age of personalised medicines, antisense oligonucleotides can sometimes be designed to target and bypass or overcome a patient's genetic mutation, in particular those lesions that compromise normal pre-mRNA processing. Antisense oligonucleotides can alter gene expression through a variety of mechanisms as determined by the chemistry and antisense oligomer design. Through targeting the pre-mRNA, antisense oligonucleotides can alter splicing and induce a specific spliceoform or disrupt the reading frame, target an RNA transcript for degradation through RNaseH activation, block ribosome initiation of protein translation or disrupt miRNA function...
February 6, 2018: Molecular and Cellular Pediatrics
https://www.readbyqxmd.com/read/29408692/proteomic-analysis-of-the-sarcolemma-enriched-fraction-from-dystrophic-mdx-4cv-skeletal-muscle
#15
Sandra Murphy, Margit Zweyer, Michael Henry, Paula Meleady, Rustam R Mundegar, Dieter Swandulla, Kay Ohlendieck
The highly progressive neuromuscular disorder dystrophinopathy is triggered by primary abnormalities in the Dmd gene, which causes cytoskeletal instability and loss of sarcolemmal integrity. Comparative organellar proteomics was employed to identify sarcolemma-associated proteins with an altered concentration in dystrophic muscle tissue from the mdx-4cv mouse model of dystrophinopathy. A lectin agglutination method was used to prepare a sarcolemma-enriched fraction and resulted in the identification of 190 significantly changed protein species...
February 1, 2018: Journal of Proteomics
https://www.readbyqxmd.com/read/29403020/updating-the-genomic-taxonomy-and-epidemiology-of-campylobacter-hyointestinalis
#16
David A Wilkinson, Andrew J O'Donnell, Rukhshana N Akhter, Ahmed Fayaz, Hamish J Mack, Lynn E Rogers, Patrick J Biggs, Nigel P French, Anne C Midwinter
Campylobacter hyointestinalis is a member of an emerging group of zoonotic Campylobacter spp. that are increasingly identified in both gastric and non-gastric disease in humans. Here, we discovered C. hyointestinalis in three separate classes of New Zealand ruminant livestock; cattle, sheep and deer. To investigate the relevance of these findings we performed a systematic literature review on global C. hyointestinalis epidemiology and used comparative genomics to better understand and classify members of the species...
February 5, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29399649/sphingomyelin-and-gm1-influence-huntingtin-binding-to-disruption-of-and-aggregation-on-lipid-membranes
#17
Maxmore Chaibva, Xiang Gao, Pranav Jain, Warren A Campbell, Shelli L Frey, Justin Legleiter
Huntington disease (HD) is an inherited neurodegenerative disease caused by the expansion beyond a critical threshold of a polyglutamine (polyQ) tract near the N-terminus of the huntingtin (htt) protein. Expanded polyQ promotes the formation of a variety of oligomeric and fibrillar aggregates of htt that accumulate into the hallmark proteinaceous inclusion bodies associated with HD. htt is also highly associated with numerous cellular and subcellular membranes that contain a variety of lipids. As lipid homeostasis and metabolism abnormalities are observed in HD patients, we investigated how varying both the sphingomyelin (SM) and ganglioside (GM1) contents modifies the interactions between htt and lipid membranes...
January 31, 2018: ACS Omega
https://www.readbyqxmd.com/read/29397305/spatial-patterns-of-neuroimaging-biomarker-change-in-individuals-from-families-with-autosomal-dominant-alzheimer-s-disease-a-longitudinal-study
#18
Brian A Gordon, Tyler M Blazey, Yi Su, Amrita Hari-Raj, Aylin Dincer, Shaney Flores, Jon Christensen, Eric McDade, Guoqiao Wang, Chengjie Xiong, Nigel J Cairns, Jason Hassenstab, Daniel S Marcus, Anne M Fagan, Clifford R Jack, Russ C Hornbeck, Katrina L Paumier, Beau M Ances, Sarah B Berman, Adam M Brickman, David M Cash, Jasmeer P Chhatwal, Stephen Correia, Stefan Förster, Nick C Fox, Neill R Graff-Radford, Christian la Fougère, Johannes Levin, Colin L Masters, Martin N Rossor, Stephen Salloway, Andrew J Saykin, Peter R Schofield, Paul M Thompson, Michael M Weiner, David M Holtzman, Marcus E Raichle, John C Morris, Randall J Bateman, Tammie L S Benzinger
BACKGROUND: Models of Alzheimer's disease propose a sequence of amyloid β (Aβ) accumulation, hypometabolism, and structural decline that precedes the onset of clinical dementia. These pathological features evolve both temporally and spatially in the brain. In this study, we aimed to characterise where in the brain and when in the course of the disease neuroimaging biomarkers become abnormal. METHODS: Between Jan 1, 2009, and Dec 31, 2015, we analysed data from mutation non-carriers, asymptomatic carriers, and symptomatic carriers from families carrying gene mutations in presenilin 1 (PSEN1), presenilin 2 (PSEN2), or amyloid precursor protein (APP) enrolled in the Dominantly Inherited Alzheimer's Network...
January 31, 2018: Lancet Neurology
https://www.readbyqxmd.com/read/29397027/hereditary-palmoplantar-keratodermas-part-ii-syndromic-palmoplantar-keratodermas-diagnostic-algorithm-and-principles-of-therapy
#19
REVIEW
L Guerra, M Castori, B Didona, D Castiglia, G Zambruno
Hereditary palmoplantar keratodermas (PPKs) comprise a large and heterogeneous group of disorders characterized by persistent thickening of the epidermis at palmar and plantar surfaces. Clinical and genetic features of isolated and complex PPKs have been reviewed in part I of this 2-part review. Here we focus on clinical and molecular classification of syndromic PPKs which are recognized by additional extracutaneous manifestations, in particular deafness, specific mucosal lesions, cardiomyopathy, inborn errors of metabolism, involvement of internal organs or disorders of sexual development...
February 3, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29392586/transplantation-as-disease-modifying-therapy-in-adults-with-inherited-metabolic-disorders
#20
REVIEW
Sandra Sirrs, Fady Hannah-Shmouni, Stephen Nantel, James Neuberger, Eric M Yoshida
Transplantation is an established disease modifying therapy in selected children with certain inherited metabolic diseases (IMDs). Transplantation of hematopoietic stem cells or solid organs can be used to partially correct the underlying metabolic defect, address life threatening disease manifestations (such as neutropenia) or correct organ failure caused by the disease process. Much less information is available on the use of transplantation in adults with IMDs. Transplantation is indicated for the same IMDs in adults as in children...
February 1, 2018: Journal of Inherited Metabolic Disease
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