journal
https://read.qxmd.com/read/36994449/genetic-loss-of-sucrase-isomaltase-function-mechanisms-implications-and-future-perspectives
#21
REVIEW
Ninna Karsbæk Senftleber, Stina Ramne, Ida Moltke, Marit Eika Jørgensen, Anders Albrechtsen, Torben Hansen, Mette K Andersen
Genetic variants causing loss of sucrase-isomaltase (SI) function result in malabsorption of sucrose and starch components and the condition congenital sucrase-isomaltase deficiency (CSID). The identified genetic variants causing CSID are very rare in all surveyed populations around the globe, except the Arctic-specific c.273_274delAG loss-of-function (LoF) variant, which is common in the Greenlandic Inuit and other Arctic populations. In these populations, it is, therefore, possible to study people with loss of SI function in an unbiased way to elucidate the physiological function of SI, and investigate both short-term and long-term health effects of reduced small intestinal digestion of sucrose and starch...
2023: Application of Clinical Genetics
https://read.qxmd.com/read/36883047/genetic-links-to-episodic-movement-disorders-current-insights
#22
REVIEW
Divyani Garg, Shekeeb Mohammad, Anju Shukla, Suvasini Sharma
Episodic or paroxysmal movement disorders (PxMD) are conditions, which occur episodically, are transient, usually have normal interictal periods, and are characterized by hyperkinetic disorders, including ataxia, chorea, dystonia, and ballism. Broadly, these comprise paroxysmal dyskinesias (paroxysmal kinesigenic and non-kinesigenic dyskinesia [PKD/PNKD], paroxysmal exercise-induced dyskinesias [PED]) and episodic ataxias (EA) types 1-9. Classification of paroxysmal dyskinesias has traditionally been clinical...
2023: Application of Clinical Genetics
https://read.qxmd.com/read/36713959/donor-safety-discrepancies-between-practice-and-theory-analysis-of-the-polish-supreme-audit-office-s-report
#23
JOURNAL ARTICLE
Rafał Patryn, Anna Zagaja, Mariola Drozd
The introduction and development of genetic testing has caused the emergence of numerous dilemmas, which pertain to the performed tests, their results, and the influence they have on an individual person. To minimize potential doubts, it is crucial to ensure compliance with established procedures and to fulfill all test-associated formalities. In 2018, a report of the Polish Supreme Audit's Office (a governmental control agency) on the quality of genetic tests revealed that there is much to be done in the field of laboratory diagnostics in Poland...
2023: Application of Clinical Genetics
https://read.qxmd.com/read/36304179/rasopathy-cohort-of-patients-enrolled-in-a-brazilian-reference-center-for-rare-diseases-a-novel-familial-lztr1-variant-and-recurrent-mutations
#24
JOURNAL ARTICLE
Natana Chaves Rabelo, Maria Eduarda Gomes, Isabelle de Oliveira Moraes, Juliana Cantagalli Pfisterer, Guilherme Loss de Morais, Deborah Antunes, Ernesto Raúl Caffarena, Juan Llerena, Sayonara Gonzalez
PURPOSE: Noonan syndrome and related disorders are genetic conditions affecting 1:1000-2000 individuals. Variants causing hyperactivation of the RAS/MAPK pathway lead to phenotypic overlap between syndromes, in addition to an increased risk of pediatric tumors. DNA sequencing methods have been optimized to provide a molecular diagnosis for clinical and genetic heterogeneity conditions. This work aimed to investigate the genetic basis in RASopathy patients through Next Generation Sequencing in a Reference Center for Rare Diseases (IFF/Fiocruz) and implement the precision medicine at a public health institute in Brazil...
2022: Application of Clinical Genetics
https://read.qxmd.com/read/36213555/three-decade-successive-establishment-of-care-for-women-girls-from-families-with-haemophilia
#25
JOURNAL ARTICLE
Ampaiwan Chuansumrit, Werasak Sasanakul, Nongnuch Sirachainan, Suttikarn Santiwatana, Praguywan Kadegasem, Pakawan Wongwerawattanakoon, Noppawan Tungbubpha, Juthamard Chantaraamporn
Objective: The study aimed to report a 3-decade successive establishment of care for women/girls from families with haemophilia. Methods: A retrospective analysis was conducted on 462 women/girls from 243 families from 1987 to 2021. Results: Combining phenotypic analysis of coagulation factor and genotypic analysis of either linkage analysis or mutation detection confirmed the status of all obligate haemophilia carriers (A118, B19). For potential carrier, 159 proven carriers (A130, B29) and 146 noncarrier status (A126, B20) were diagnosed except 20 potential carriers (A16, B4)...
2022: Application of Clinical Genetics
https://read.qxmd.com/read/36213554/prenatal-sonographic-features-of-rare-chromosome-13-aberrations
#26
JOURNAL ARTICLE
Hanna Moczulska, Michal Pietrusinski, Marcin Serafin, Beata Skoczylas, Piotr Sieroszewski, Maciej Borowiec
Objective: Trisomy 13 is one of the most common chromosome aberrations diagnosed in the prenatal period, and is associated with some specific dysmorphic features. Rare chromosome 13 aberrations other than trisomy 13 may cause other fetal abnormalities. The aim of the study was to analyze cases with those rare chromosome 13 aberrations. Methods: We analyzed all prenatal tests performed in the Department of Clinical Genetics of the Medical University of Lodz from 2016 to 2021 to find all chromosome 13 aberrations...
2022: Application of Clinical Genetics
https://read.qxmd.com/read/36082049/case-report-of-a-juvenile-patient-with-autism-spectrum-disorder-with-a-novel-combination-of-copy-number-variants-in-adgrl3-lphn3-and-two-pseudogenes
#27
Martin H Maurer, Anja Kohler, Melanie Hudemann, Jerome Jüngling, Saskia Biskup, Martin Menzel
We report the finding of two copy number variants (CNVs) in a 12-year-old boy presenting both with autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD). Clinical features included aggressive behavior, mood instability, suicidal statements, repetitive and restrictive behavior, sensitivity to noise, learning problems and dyslexia, though no intellectual disability was present. Using array-based comparative genomic hybridization (array-CGH), we identified two CNVs, both triplex duplications of 324 kb on 3p26...
2022: Application of Clinical Genetics
https://read.qxmd.com/read/35983253/abcd1-gene-mutations-mechanisms-and-management-of-adrenomyeloneuropathy
#28
REVIEW
Alyssa M Volmrich, Lauren M Cuénant, Irman Forghani, Sharon L Hsieh, Lauren T Shapiro
Pathogenic variants in the ABCD1 gene on the X chromosome may result in widely heterogenous phenotypes, including adrenomyeloneuropathy (AMN). Affected males typically present in their third or fourth decade of life with progressive lower limb weakness and spasticity, and may develop signs and symptoms of adrenal insufficiency and/or cerebral demyelination. Heterozygous females may be asymptomatic, but may develop a later-onset and more slowly progressive spastic paraparesis. In this review, we describe the clinical presentation of AMN, as well as its diagnosis and management...
2022: Application of Clinical Genetics
https://read.qxmd.com/read/35937710/long-non-coding-rnas-asb16-as1-and-afap1-as1-diagnostic-prognostic-impact-and-survival-analysis-in-colorectal-cancer
#29
JOURNAL ARTICLE
Naglaa S Elabd, Shimaa E Soliman, Moamena S Elhamouly, Suzy F Gohar, Ayman Elgamal, Mahmoud Magdy Alabassy, Haitham A Soliman, Abdelnaser A Gadallah, Osama D Elbahr, Ghada Soliman, Amany A Saleh
Background: We aimed to evaluate the diagnostic roles of AFAP1-AS1 and ASB16-AS1 in colorectal cancer and highlight their roles in predicting colorectal cancer patients' prognosis. Methods: In this case-control study, 146 participants were involved. Group I included 47 patients with CRC. Group II composed of 49 patients with benign lesions in the colon, and Group III included 50 apparently normal subjects of coincided age and gender as controls. All participants were subjected to clinical and endoscopic evaluations, CA19-9, CEA, and quantification of relative expression of lncRNAs ASB16-AS1 and AFAP1-AS1...
2022: Application of Clinical Genetics
https://read.qxmd.com/read/35923603/utility-of-measuring-fetal-cavum-septum-pellucidum-csp-width-during-routine-obstetrical-ultrasound-for-improving-diagnosis-of-22q11-2-deletion-syndrome-a-case-control-study
#30
JOURNAL ARTICLE
Christy L Pylypjuk, Shiza F Memon, Bernard N Chodirker
OBJECTIVE: To evaluate the utility of measuring fetal cavum septum pellucidum (CSP) width during routine, mid-pregnancy ultrasound for improving diagnosis of 22q11.2 deletion syndrome amongst fetuses with and without conotruncal anomalies. PATIENTS AND METHODS: This was a retrospective case-control study (2005-2016). Fetuses and newborns with 22q11.2 deletion and/or conotruncal cardiac anomalies were identified using a regional, clinical database. A control group was assembled in a 2:1 ratio to create three groups for comparison: i) 22q11...
2022: Application of Clinical Genetics
https://read.qxmd.com/read/35874179/deregulation-of-circanxa2-circ0075001-and-circfbxw7-gene-expressions-and-their-predictive-value-in-egyptian-acute-myeloid-leukemia-patients
#31
JOURNAL ARTICLE
Safaa I Tayel, Shimaa E Soliman, Iman A Ahmedy, Mohamed Abdelhafez, Aly M Elkholy, Amira Hegazy, Nashwa M Muharram
Background: Acute myeloid leukemia (AML) is of heterogeneous pathogenesis and caused by alterations of multiple genes. CircRNAs act as oncogenes or tumor suppressors in numerous tumors and could be novel diagnostic and prognostic biomarkers. Few studies had incorporated circRNAs in AML. Aim of the Work: Assessment of circANXA2, circ0075001, and circFBXW7 gene expressions in AML patients. Evaluation of their relations with clinical, cytogenetic, and overall survival outcome to emphasize their diagnostic role and prognostic impact...
2022: Application of Clinical Genetics
https://read.qxmd.com/read/35821784/a-novel-pogz-variant-in-a-patient-with-intellectual-disability-and-obesity
#32
Sebastian Giraldo-Ocampo, Rafael Adrian Pacheco-Orozco, Harry Pachajoa
White-Sutton syndrome is a rare type of autosomal dominant neurodevelopmental disorder caused by mutations, mostly de novo , in the POGZ gene. No more than 120 patients have been described so far in the literature. Common clinical manifestations include intellectual disability, developmental delay, autism spectrum disorder, other behavioral abnormalities, sleeping problems, hyperactivity and visual problems. We describe a 20-year-old male patient from Colombia who presented with delayed psychomotor development, intellectual disability, obesity, sleep difficulties, hypotonia, hypogonadism, gynecomastia, visual abnormalities and several facial dysmorphisms...
2022: Application of Clinical Genetics
https://read.qxmd.com/read/35698663/evaluating-the-association-between-genetic-polymorphisms-related-to-homocysteine-metabolism-and-unexplained-recurrent-pregnancy-loss-in-women
#33
JOURNAL ARTICLE
Nhat Nguyen Ngoc, My Tran Ngoc Thao, Sang Trieu Tien, Son Vu Tung, Hoang Le, Hung Ho Sy, Tung Nguyen Thanh, Son Trinh The
Objective: To investigate the relationship between unexplained recurrent pregnancy loss (URPL) and polymorphisms of homocysteine metabolism-related genes in women. Materials and Methods: A case-control study included 90 women with two or more consecutive unexplained pregnancy losses and 92 controlled women without miscarriage history; the female participants were in the age category of 18-35 years. The high-resolution melting technique was used to detect the single-nucleotide variants related to homocysteine metabolism disorder, namely MTHFR C677T, MTHFR A1298C, MTR A2756G, and MTRR A66G polymorphism...
2022: Application of Clinical Genetics
https://read.qxmd.com/read/35615343/prominent-mutation-of-intron-22-inversion-in-sporadic-hemophilia-is-it-worth-the-antenatal-screening
#34
JOURNAL ARTICLE
Werasak Sasanakul, Ampaiwan Chuansumrit, Nongnuch Sirachainan, Praguywan Kadegasem
BACKGROUND: Adequate replacement for patients with hemophilia is costly, especially in countries with limited resources. OBJECTIVE: Factor VIII gene mutations among Thai patients with hemophilia A were analyzed for the most common mutation. The cost-effectiveness of finding one female without family history of hemophilia possessing the most common factor VIII mutation was compared with the cost of treating one patient with hemophilia. METHODS: In all, 109 unrelated patients with hemophilia A, defined as sporadic cases (n=58) and hereditary cases (n=51), were enrolled for genotypic analysis...
2022: Application of Clinical Genetics
https://read.qxmd.com/read/35611242/molecular-genetic-screening-of-neonatal-intensive-care-units-hyperbilirubinemia-as-an-example
#35
JOURNAL ARTICLE
Yuqi Yang, Yu Wang, Lingna Zhou, Wei Long, Bin Yu, Huaiyan Wang
Objective: To explore the clinical value of newborn genomic screening (nGS) for neonatal intensive care units (NICU) infants (taking neonatal hyperbilirubinemia as an example). Methods: Dried blood spots (DBSs) were collected after 72 hours of birth. The tandem mass spectrometry (TMS) screening and Angel Care genomic screening (GS, based on Targeted next-generation sequencing) were performed at the same time. Results: Ninety-six hyperbilirubinemia newborns were enrolled in this study and none was identified with inborn errors of metabolism (IEM) by TMS, while 6 infants (6...
2022: Application of Clinical Genetics
https://read.qxmd.com/read/35603035/clinical-importance-of-acgh-in-genetic-counselling-of-children-with-psychomotor-retardation
#36
Magdalena Pasińska, Ewelina Łazarczyk, Anna Repczyńska, Agnieszka Sobczyńska-Tomaszewska, Janusz Zimowski, Agata Runge, Olga Haus
Introduction: The X and Y chromosomes are responsible for the determination and differentiation of the gonads, and their numerical and structural abnormalities may cause the abnormal development of secondary sex characteristics. The presence of abnormalities concerning X chromosome can also contribute to many genetically heterogeneous diseases associated with cognitive impairment and intellectual disability. Purpose: This study shows the effect of aberrations of the maternal X chromosome on the abnormal development of the child...
2022: Application of Clinical Genetics
https://read.qxmd.com/read/35515014/ctla-4-ct-60-a-g-and-ctla-4-1822-c-t-gene-polymorphisms-in-indonesians-with-type-1-diabetes-mellitus
#37
JOURNAL ARTICLE
Nur Rochmah, Muhammad Faizi, Suhasta Nova, Retno Asih Setyoningrum, Sukmawati Basuki, Anang Endaryanto
Introduction: CTLA-4 gene polymorphism plays an important role in children with type 1 diabetes mellitus (T1DM). However, data on this subject vary among different races and ethnics. Purpose: To analyze CTLA-4 CT-60 A/G and CTLA-4 1822 C/T gene polymorphism among children with T1DM compared to control. Patients and Methods: The CTLA-4 CT-60 A/G and CTLA-4 1822 C/T gene polymorphism in children with T1DM using polymerase chain reaction-restriction fragment length polymorphism in 25 T1DM and 25 controls...
2022: Application of Clinical Genetics
https://read.qxmd.com/read/35046698/hla-dqa1-and-hla-dqb1-gene-polymorphism-in-indonesian-children-with-type-i-diabetes-mellitus
#38
JOURNAL ARTICLE
Soetjipto, Nur Rochmah, Muhammad Faizi, Yuni Hisbiyah, Anang Endaryanto
Background: More than 40 genes influence the progression of type 1 diabetes mellitus (T1DM), including human leukocyte antigen (HLA) alleles. Different HLA genotype patterns result in diverse rates of T1DM development. HLA class II DR, DQ, and DP vary among different populations and ethnicities. Data on HLA polymorphism in T1DM in Indonesia are lacking. Therefore, this study was designed to evaluate the gene polymorphism of HLA-DQA1 and HLA-DQB1 in Indonesian children with T1DM. Patients and Methods: In this study, 31 patients with T1DM and 31 controls were enrolled from April 2020 to April 2021...
2022: Application of Clinical Genetics
https://read.qxmd.com/read/35023948/novel-compound-heterozygous-variants-in-the-cdc6-gene-in-a-russian-patient-with-meier-gorlin-syndrome
#39
Viktoriia Zabnenkova, Olga Shchagina, Olga Makienko, Galina Matyushchenko, Oxana Ryzhkova
Background: Meier-Gorlin syndrome (MGS) is a rare genetic syndrome inherited in an autosomal dominant or autosomal recessive manner. The disorder is characterized by bilateral microtia, absence or hypoplasia of the patella, and an intrauterine growth retardation as well as a number of other characteristic features. The cause of the disease is mutations in genes encoding proteins involved in the regulation of the cell cycle ( ORC1, ORC4, ORC6, CDT1, CDC6, GMNN, CDC45L, MCM3, MCM5, MCM7, GINS2 , and DONSON )...
2022: Application of Clinical Genetics
https://read.qxmd.com/read/34938096/first-two-case-reports-of-becker-s-type-myotonia-congenita-in-colombia-clinical-and-genetic-features
#40
Jorge Andres Olave-Rodriguez, Francisco Javier Bonilla-Escobar, Estephania Candelo, Lisa Ximena Rodriguez-Rojas
BACKGROUND: Becker's type myotonia congenita is an autosomal recessive nondystrophic skeletal muscle disorder characterized by muscle stiffness and the inability of muscle relaxation after voluntary contraction. It is caused by mutations in the CLCN1 gene, which encodes for a chloride channel mainly expressed in the striated muscle. Most cases have been reported in the European population, and only mexiletine has demonstrated a randomized placebo-controlled, double-blinded effectiveness...
2021: Application of Clinical Genetics
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