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https://www.readbyqxmd.com/read/29457878/genetic-determinants-of-heart-failure-facts-and-numbers
#1
EDITORIAL
Frauke S Czepluch, Bernd Wollnik, Gerd Hasenfuß
The relevance of gene mutations leading to heart diseases and hence heart failure has become evident. The risk for and the course of heart failure depends on genomic variants and mutations underlying the so-called genetic predisposition. Genetic contribution to heart failure is highly heterogenous and complex. For any patient with a likely inherited heart failure syndrome, genetic counselling is recommended and important. In the last few years, novel sequencing technologies (named next-generation sequencing - NGS) have dramatically improved the availability of molecular testing, the efficiency of genetic analyses, and moreover reduced the cost for genetic testing...
February 19, 2018: ESC Heart Failure
https://www.readbyqxmd.com/read/29457425/-progress-on-research-of-madelung-s-deformity
#2
REVIEW
Yu-Xin Song, Zeng-Ping Wang, Lin Liu, Wen Xue, Zhong-Yu Hao, Qun-Li Zhang, Wei She, Li-Yang Cai, Hai-Tao Gou, Yao-Wen Qian
Madelung deformity is a rare deformity of forearm and wrist caused by growth disorders of distal radius ulnar and palmar epiphyseal. Current studies showed that its incidence mainly associated with trauma, epiphyseal developmental abnormalities, nutritional disorders and genetic deletion or mutation. The early clinical presentation is not typical, in middle and late time, wrist deformity and weak can appear. Plain film considered as the main means of diagnosis is often lack of early diagnosis significance. Although wrist joint magnetic resonance imaging showing early soft tissue and skeletal abnormalities were used for the early diagnosis of the disease, current domestic study in magnetic resonance imaging of this deformity is less...
October 25, 2017: Zhongguo Gu Shang, China Journal of Orthopaedics and Traumatology
https://www.readbyqxmd.com/read/29457312/update-on-tuberculosis-biomarkers-from-correlates-of-risk-to-correlates-of-active-disease-and-of-cure-from-disease
#3
REVIEW
Delia Goletti, Meng-Rui Lee, Jann-Yuan Wang, Nicholas Walter, Tom H M Ottenhoff
Tuberculosis (TB) remains a devastating disease, yet despite its enormous toll on global health, tools to control TB are insufficient and often outdated. TB Biomarkers (TB-BM) would constitute extremely useful tools to measure infection status and predict outcome of infection, vaccination or therapy. There are several types of TB-BM: Correlate of Infection; Correlate of TB Disease; Correlate of Increased Risk of Developing Active TB Disease; Correlate of the Curative Response to Therapy; and Correlate of Protection (CoP)...
February 18, 2018: Respirology: Official Journal of the Asian Pacific Society of Respirology
https://www.readbyqxmd.com/read/29457203/challenges-and-opportunities-in-establishing-and-maintaining-newborn-screening-in-a-rural-area-of-andhra-pradesh-task-force-study-by-indian-council-of-medical-research
#4
A Radha Rama Devi, Y Ananthalakshmi, K Srimannarayana Rao
OBJECTIVE: The primary objective was to evaluate the feasibility of setting up newborn screening in rural areas in India. Secondary objective was to enhance the knowledge and awareness towards early detection of diseases by newborn screening, management of the affected baby and to impart genetic counseling. METHODS: Awareness programs were conducted at different mandals in the district for the medical practioners during the preparatory phase of the Task Force Project...
February 19, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29456962/neuroectodermally-derived-neoplasm-of-tonsil-difficulty-in-histomorphological-diagnosis
#5
Albina Venus, Sangita Sharma Mehta
Esthesioneuroblastomas are rare neuroectodermally derived neoplasms occurring in the upper nasal septum or cribriform plate. They have been rarely reported in other sites, when they are called ectopic esthesioneuroblastomas. Due to the scarcity of reports, publications and molecular/genetic studies of these tumours, their diagnosis is likely to be missed when they are ectopic. Similar to the case report in this journal by Zahedi et al., we had a case of neuroectodermally derived neoplasm of the tonsil, which was difficult to diagnose, due to the site of occurrence being unknown for these tumours...
March 2018: Indian Journal of Otolaryngology and Head and Neck Surgery
https://www.readbyqxmd.com/read/29456932/neither-hereditary-periodic-fever-nor-periodic-fever-aphthae-pharingitis-adenitis-undifferentiated-periodic-fever-in-a-tertiary-pediatric-center
#6
Silvia De Pauli, Sara Lega, Serena Pastore, Domenico Leonardo Grasso, Anna Monica Rosaria Bianco, Giovanni Maria Severini, Alberto Tommasini, Andrea Taddio
AIM: To describe the frequency and clinical characteristics of patients with undifferentiated periodic fever (UPF) and to investigate whether a clinical classification of UPF based on the PRINTO-Eurofever score can help predicting the response to treatment and the outcome at follow-up. METHODS: Clinical and therapeutic information of patients with recurrent fever who presented at a single pediatric rheumatology center from January 2006 through April 2016 were retrospectively collected...
February 8, 2018: World Journal of Clinical Pediatrics
https://www.readbyqxmd.com/read/29456765/peripheral-blood-epi-signature-of-claes-jensen-syndrome-enables-sensitive-and-specific-identification-of-patients-and-healthy-carriers-with-pathogenic-mutations-in-kdm5c
#7
Laila C Schenkel, Erfan Aref-Eshghi, Cindy Skinner, Peter Ainsworth, Hanxin Lin, Guillaume Paré, David I Rodenhiser, Charles Schwartz, Bekim Sadikovic
Background: Claes-Jensen syndrome is an X-linked inherited intellectual disability caused by mutations in the KDM5C gene. Kdm5c is a histone lysine demethylase involved in histone modifications and chromatin remodeling. Males with hemizygous mutations in KDM5C present with intellectual disability and facial dysmorphism, while most heterozygous female carriers are asymptomatic. We hypothesized that loss of Kdm5c function may influence other components of the epigenomic machinery including DNA methylation in affected patients...
2018: Clinical Epigenetics
https://www.readbyqxmd.com/read/29456678/association-between-dscr4-gene-methylation-in-plasma-in-early-pregnancy-and-down-s-syndrome
#8
Lingyu Hu, Changju Zhou
Down's syndrome (DS), a chromosomal abnormal genetic disease caused by a local or total copy of chromosome 21, leads to patients suffering from delayed body growth, special facies, mild to moderate mental retardation and other symptoms, seriously affecting the life of patients. The aim of the present study was to examine the association between Down's syndrome critical region 4 ( DSCR4 ) gene methylation in plasma in high-risk pregnant women with DS in early pregnancy (hereinafter referred to as pregnant women in early pregnancy) and DS, in order to screen new epigenetic markers for the clinical diagnosis of DS...
March 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29456554/compound-heterozygous-variants-in-the-coiled-coil-domain-containing-40-gene-in-a-chinese-family-with-primary-ciliary-dyskinesia-cause-extreme-phenotypic-diversity-in-cilia-ultrastructure
#9
Lin Yang, Santasree Banerjee, Jie Cao, Xiaohong Bai, Zhijun Peng, Haixia Chen, Hui Huang, Peng Han, Shunyu Feng, Na Yi, Xueru Song, Jing Wu
Purpose: Primary ciliary dyskinesia (PCD) is a rare genetic disorder manifested with recurrent infections of respiratory tract and infertility. Mutations in more than 20 genes including the Coiled-Coil Domain Containing 40 ( CCDC40 ) gene are associated with PCD. A Chinese proband with a clinical diagnosis of PCD was analyzed for mutations in these genes to identify the genetic basis of the disease in the family. The proband showed altered mucociliary clearance of the airways, various degree of hyperemia and edema of the mucous membrane, left/right body asymmetry, infertility and ultrastructural abnormality of cilia in both sperm and bronchioles...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29456477/dual-diagnosis-of-ellis-van-creveld-syndrome-and-hearing-loss-in-a-consanguineous-family
#10
Barbara Vona, Reza Maroofian, Geetu Mendiratta, Matthew Croken, Siwu Peng, Xiaoqian Ye, Jamileh Rezazadeh, Paulina Bahena, Caroline Lekszas, Thomas Haaf, Lisa Edelmann, Lisong Shi
Multilocus analysis of rare or genetically heterogeneous diseases is a distinct advantage of next-generation sequencing (NGS) over conventional single-gene investigations. Recent studies have begun to uncover an under-recognized prevalence of dual molecular diagnoses in patients with a "blended" phenotype that is the result of 2 clinical diagnoses involving 2 separate genetic loci. This blended phenotype could be mistakenly interpreted as a novel clinical extension of a single-gene disorder. In this study, we ascertained a proband from a large consanguineous Iranian family who manifests postlingual, progressive, moderate hearing loss in addition to suspected Ellis-van Creveld syndrome phenotype...
December 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29456205/mutational-analysis-of-agxt-gene-in-libyan-children-with-primary-hyperoxaluria-type-1-at-tripoli-children-hospital
#11
Naziha R Rhuma, Omar A Fituri, Laila T Sabei
Primary hyperoxaluria type 1 (PH1) is an inborn error of glyoxylate metabolism. It results from genetic mutation of the AGXT gene. The study objective was to verify the clinical and epidemiological patterns of PH1 in Libyan children at Tripoli Children Hospital confirmed by AGXT gene mutation. A descriptive case series study of 53 children with PH1 diagnosed between 1994 and 2015 was carried out in the Nephrology Unit at Tripoli Children Hospital. Diagnosis of PH1 was based on the clinical presentation (renal stones or nephrocalcinosis), positive family history of PH1, and high 24 h urinary oxalate...
January 2018: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/29455772/prenatal-diagnosis-of-congenital-heart-disease-a-review-of-current-knowledge
#12
REVIEW
Nathalie Jeanne Bravo-Valenzuela, Alberto Borges Peixoto, Edward Araujo Júnior
This article reviews important features to improve the diagnosis of congenital heart disease (CHD) by applying ultrasound in prenatal cardiac screening. As low and high-risk pregnancies for CHD are subject to routine obstetric ultrasound, the diagnosis of structural heart defects represents a challenge that involves a team of specialists and subspecialists on fetal ultrasonography. In this review, the images highlight normal anatomy of the heart as well as pathologic cases consistent with cardiac malposition and isomerism, septal defects, pulmonary stenosis/atresia, aortic malformations, hypoplastic left ventricle, conotruncal anomalies, tricuspid dysplasia, and Ebstein's anomaly, and univentricular heart, among other congenital cardiovascular defects...
January 2018: Indian Heart Journal
https://www.readbyqxmd.com/read/29455330/ocular-manifestations-of-pediatric-systemic-diseases
#13
Gopal S Pillai, Natasha Radhakrishnan
Ocular manifestations that occur directly or indirectly as result of a pathologic process that involves other parts of the body, in a pediatric population, will be discussed here. While a myriad number of systemic conditions have ocular manifestations, its importance cannot be undermined because it has implications for both diagnosis and treatment. Often, the eye findings can give a clue to the systemic diagnosis and at other times, not managing the eye manifestations can lead to irreversible blindness although the systemic condition was treated well...
February 17, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29455205/use-of-array-comparative-genomic-hybridization-for-the-diagnosis-of-digeorge-syndrome-in-saudi-arabian-population
#14
Abeer A Bahamat, Mourad Assidi, Sahira A Lary, Muna M Almughamsi, Abdul A Peer Zada, Adeel Chaudhary, Adel Abuzenadah, Muhammad Abu-Elmagd, Mohammed Al-Qahtani
DiGeorge syndrome (DGS) is a genetic disorder known as a clinically variable syndrome with over 180 associated phenotypic features. It is caused by a common human deletion in the 22q11.2 chromosomal region and currently is affecting approximately 1 in 4,000 individuals. Despite the prevalence of inherited diseases mainly due to consanguineous marriages, the current diagnosis of DGS in Saudi Arabia is mainly based on conventional high-resolution chromosome banding (karyotyping) and FISH techniques. However, advanced genome-wide studies for detecting microdeletions or duplications across the whole genome are needed...
February 17, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29454826/diagnosis-follow-up-and-management-of-sleep-disordered-breathing-in-children-with-osteogenesis-imperfecta
#15
Antoine Léotard, Jessica Taytard, Marion Aouate, Michèle Boule, Veronique Forin, Pauline Lallemant-Dudek
OBJECTIVES: Osteogenesis imperfecta (OI) is the most common genetic skeletal disorder. Extraskeletal findings are common but an association with sleep disordered breathing (SDB) has never been described. The aim of this study was to investigate clinical features of children with OI and suspected SDB. METHODS: A retrospective study of clinical records, signs of SDB and polysomnographic recordings of children with OI was performed. We paid particular attention to symptoms that could be associated with SDB in this population - scoliosis, kyphosis, vertebral arthrodesis, chest wall deformities, basilar impression, autonomy - as well as data already known to be associated with obstructive sleep apnea such as body mass index and upper airway impairment...
February 15, 2018: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/29454680/cardiomyopathy-in-the-pediatric-patients
#16
REVIEW
Shi-Min Yuan
Pediatric cardiomyopathies are a group of myocardial diseases with complex taxonomies. Cardiomyopathy can occur in children at any age, and it is a common cause of heart failure and heart transplantation in children. The incidence of pediatric cardiomyopathy is increasing with time. They may be associated with variable comorbidities, which are most often arrhythmia, heart failure, and sudden death. Medical imaging technologies, including echocardiography, cardiac magnetic resonance, and nuclear cardiology, are helpful in reaching a diagnosis of cardiomyopathy...
January 31, 2018: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/29454577/morphological-clues-to-the-appropriate-recognition-of-hereditary-renal-neoplasms
#17
REVIEW
Holger Moch, Riuko Ohashi, Jatin S Gandhi, Mahul B Amin
An important emerging role of the surgical pathologist besides the traditional tasks of establishment of the diagnosis and documentation of prognostic and predictive factors, is to recognize the possibility of a hereditary condition in cases where the histology is suggestive for a familial cancer syndrome. In recent years, the knowledge regarding all of the above roles, including the role of recognition of familial cancer, has particularly expanded in renal neoplasms with the close scrutiny to morphology, molecular correlates and clinical features of the different sub-types of renal cell carcinoma...
February 14, 2018: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/29454489/basal-cell-nevus-syndrome-gorlin-syndrome-genetic-insights-diagnostic-challenges-and-unmet-milestones
#18
Maryam Akbari, Harold Chen, Grace Guo, Zachary Legan, Ghali Ghali
In this article, we present three clinical case reports on Basal Cell Nevus Syndrome (Gorlin Syndrome). Gorlin syndrome is an inherited medical condition with challenges that manifest in multiple body systems and complicate early diagnosis. We examine the epidemiology of the disease and benefits of genetic testing, molecular pathophysiology, and advancement in the molecular-based therapy of Basal Cell Nevus syndrome. The goal of this paper is to shed light on both unmet challenges and advancements in the management of Gorlin syndrome and to provide a new clinical perspective and guidance for future research...
January 31, 2018: Pathophysiology: the Official Journal of the International Society for Pathophysiology
https://www.readbyqxmd.com/read/29453922/a-short-review-of-primary-aldosteronism-in-a-question-and-answer-fashion
#19
Frederick-Anthony Farrugia, Nicolaos Zavras, Georgios Martikos, Panagiotis Tzanetis, Anestis Charalampopoulos, Evangelos P Misiakos, Dimitrios Sotiropoulos, Nikolaos Koliakos
OBJECTIVES: The aim of this study was to present up to date information concerning the diagnosis and treatment of primary aldosteronism (PA). PA is the most common cause of endocrine hypertension. It has been reported up to 24% of selective referred hypertensive patients. METHODS: We did a search in Pub-Med and Google Scholar using the terms: PA, hyperaldosteronism, idiopathic adrenal hyperplasia, diagnosis of PA, mineralocorticoid receptor antagonists, adrenalectomy, and surgery...
January 1, 2018: Endocrine Regulations
https://www.readbyqxmd.com/read/29453919/genetic-and-epigenetic-differences-of-benign-and-malignant-pheochromocytomas-and-paragangliomas-ppgls
#20
Fatemeh Khatami, Mahsa Mohammadamoli, Seyed Mohammad Tavangar
Pheochromocytomas and paragangliomas (PPGLs) are tumors arising from the adrenal medulla and sympathetic/parasympathetic paraganglia, respectively. According to Th e Cancer Genome Atlas (TCGA), approximately 40% of PPGLs are due to germ line mutations in one of 16 susceptibility genes, and a further 30% are due to somatic alterations in at least seven main genes (VHL, EPAS1, CSDE1, MAX, HRAS, NF1, RET, and possibly KIF1B). Th e diagnosis of malignant PPGL was straight forward in most cases as it was defined as presence of PPGL in non-chromaffin tissues...
January 1, 2018: Endocrine Regulations
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