keyword
MENU ▼
Read by QxMD icon Read
search

Hereditary Disease

keyword
https://www.readbyqxmd.com/read/28820407/-evaluation-of-parameters-of-hemostasis-in-the-third-trimester-in-pregnant-women-with-congen%C3%A4-tal-hemorrhagic-diathesis
#1
L Rzaguliyeva, G Afandiyeva, N Malikqasımova
The aim is to study the coagulogram indices in the III trimester of pregnancy in women with hemophilia and von Willebrand disease. Twenty-seven pregnant women with hereditary coagulopathies of mild and moderate form (mean age 27.9±3.3 years) in the third trimester of pregnancy were examined. Of the examined 12 women - carriers of hemophilia A and B, 15 - with Willebrand disease (BV). Clinico-laboratory examination, clinical and biochemical blood tests were carried out. Coagulologic examination was performed on 17 parameters...
July 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28819072/-overview-of-hereditary-spinocerebellar-ataxias-in-japan
#2
Masayoshi Tada, Akio Yokoseki, Osamu Onodera
Hereditary spinocerebellar degenerations (SCD) are a group of neurodegenerative disorders characterized by slowly progressive ataxia associated with non-cerebellar neurological signs and symptoms. In the Japanese population, dominantly inherited SCDs are much more common than recessively inherited or X-linked SCDs. The most common dominantly inherited SCD in Japan, as well as in many other countries, is Machado-Joseph disease, also known as spinocerebellar ataxia type 3 (MJD/SCA3). MJD/SCA3 is frequently accompanied by non-cerebellar symptoms, including progressive external ophthalmoplegia, pyramidal signs, dystonia, rigidity, dysarthria, and distal muscle atrophies...
August 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/28818333/li-fraumeni-syndrome-disease-model-a-platform-to-develop-precision-cancer-therapy-targeting-oncogenic-p53
#3
REVIEW
Ruoji Zhou, An Xu, Julian Gingold, Louise C Strong, Ruiying Zhao, Dung-Fang Lee
Li-Fraumeni syndrome (LFS) is a rare hereditary autosomal dominant cancer disorder. Germline mutations in TP53, the gene encoding p53, are responsible for most cases of LFS. TP53 is also the most commonly mutated gene in human cancers. Because inhibition of mutant p53 is considered to be a promising therapeutic strategy to treat these diseases, LFS provides a perfect genetic model to study p53 mutation-associated malignancies as well as to screen potential compounds targeting oncogenic p53. In this review we briefly summarize the biology of LFS and current understanding of the oncogenic functions of mutant p53 in cancer development...
August 14, 2017: Trends in Pharmacological Sciences
https://www.readbyqxmd.com/read/28818232/review-of-the-endothelial-pathogenic-mechanism-of-tie2-related-venous-malformation
#4
REVIEW
Zhong Du, JiaWei Zheng, ZhiYuan Zhang, YanAn Wang
BACKGROUND: Venous malformation (VM) is a type of disease involving vascular morphogenesis in humans. Clinically, VM can be sporadic or inherited. TIE2, also known as TEK or HYK, is a member of the receptor tyrosine kinase subfamily and is highly conserved among species. In 1996, an arginine-to-tryptophan substitution at position 849 (R849W) in TIE2 was found to induce hereditary VM. Additional alterations in TIE2 involved in the pathogenesis of inherited or sporadic VM have since been reported...
September 2017: Journal of Vascular Surgery. Venous and Lymphatic Disorders
https://www.readbyqxmd.com/read/28817283/the-effects-of-a21g-mutation-on-transmembrane-amyloid-beta-11-40-trimer-an-in-silico-study
#5
Son Tung Ngo, Minh Tung Nguyen, Nguyen Thanh Nguyen, Van V Vu
Familial Alzheimer's disease (FAD) is passed down in family, which account for 2-3% of about 40 million AD cases worldwide. The Flemish (A21G) mutant of amyloid β (Aβ) exhibits unique properties among all hereditary mutants of FAD, including lowest aggregation rate. Recent studies showed that Aβ oligomers play key role in Alzheimer's disease (AD) pathogenesis. They could insert themselves in brain cell membrane, disrupting the membrane integrity and ion homeostasis. However, experimental studies of transmembrane Aβ oligomers have been limited due to their intrinsic heterogeneity...
August 17, 2017: Journal of Physical Chemistry. B
https://www.readbyqxmd.com/read/28816794/x-linked-lymphoproliferative-disease-type-1-in-a-patient-with-the-p-gly93asp-sh2d1a-gene-mutation-and-hemophagocytic-lymphohistiocytosis
#6
Raquel de la Varga-Martínez, Francisco Mora-López, Daniel García-Cuesta, M Paz Garrastazul-Sánchez, Sebastián Quintero, Carmen Rodríguez, Almudena Sampalo
Hemophagocytic lymphohistiocytosis is characterized by uncontrolled activation of the immune system that leads to systemic hyperinflammation. Lymphoproliferative syndrome linked to the X chromosome is a hereditary immunodeficiency characterized by an inability to mount an adequate immune response to an Epstein-Barr virus infection. Hemophagocytic lymphohistiocytosis is one of the main clinical features of X-linked lymphoproliferative syndrome. We report the case of a patient who presented with primary hemophagocytic lymphohistiocytosis associated with Epstein-Barr virus infection without a familial history of immunodeficiency...
August 14, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28813711/subjects-at-risk-for-genetic-late-onset-neurological-diseases-objective-knowledge
#7
Ângela Leite, Fernanda Leite, Maria Alzira P Dinis
BACKGROUND/AIMS: This study addresses the objective knowledge about the disease of subjects at risk for 3 genetic late-onset neurological diseases (LOND): familial amyloid polyneuropathy (FAP) TTR V30M, Huntington disease (HD), and Machado-Joseph disease (MJD). METHODS: Subjects at risk for FAP, HD, and MJD submitted to genetic counseling to know their status (carrier or non-carrier) and subjects at risk for hereditary hemochromatosis (HH), the control group, completed a sociodemographic questionnaire and answered the open-ended question: "What do you know about this disease?...
August 17, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28812043/swallowing-markers-in-spinal-and-bulbar-muscular-atrophy
#8
Haruhiko Banno, Masahisa Katsuno, Keisuke Suzuki, Seiya Tanaka, Noriaki Suga, Atsushi Hashizume, Tomoo Mano, Amane Araki, Hirohisa Watanabe, Yasushi Fujimoto, Masahiko Yamamoto, Gen Sobue
OBJECTIVE: We examined the characteristics of dysphagia in spinal and bulbar muscular atrophy, a hereditary neuromuscular disease causing weakness of limb, facial, and oropharyngeal muscles via a videofluoroscopic swallowing study, and investigated the plausibility of using these outcome measures for quantitative analysis. METHODS: A videofluoroscopic swallowing study was performed on 111 consecutive patients with genetically confirmed spinal and bulbar muscular atrophy and 53 age- and sex-matched healthy controls...
August 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28811298/the-future-surgical-advances-in-men1-therapeutic-approaches-and-management-strategies
#9
Samira Mercedes Sadowski, Guillaume Cadiot, Eric Dansin, Pierre Goudet, Frédéric Triponez
Multiple endocrine neoplasia type 1 (MEN1) is a hereditary autosomal dominant disorder associated with numerous neuroendocrine tumors (NETs). Recent advances in the management of MEN1 have led to a decrease in mortality due to excess hormones; however, they have also led to an increase in mortality from malignancy, particularly NETs. The main challenges are to localize these tumors, to select those that need therapy because of the risk of aggressive behavior, and to select the appropriate therapy associated with minimal morbidity...
August 15, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28810241/molecular-epidemiology-of-charcot-marie-tooth-disease-in-northern-ostrobothnia-finland-a-population-based-study
#10
Maria Marttila, Laura Kytövuori, Seppo Helisalmi, Mika Kallio, Marjo Laitinen, Mikko Hiltunen, Mikko Kärppä, Kari Majamaa
BACKGROUND: Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuromuscular disorder with a population prevalence of 9.7-82.3/100,000. In this study, we have estimated the prevalence of CMT and its subtypes in Finland and examined the frequency of molecular etiologies. METHODS: A population-based survey included adult patients with peripheral neuropathy from the province of Northern Ostrobothnia, Finland. Secondary causes of peripheral polyneuropathy were excluded and patients with clinical and neurophysiological features pertinent with CMT were included...
August 16, 2017: Neuroepidemiology
https://www.readbyqxmd.com/read/28807049/oral-manifestations-dental-management-and-a-rare-homozygous-mutation-of-the-prdm12-gene-in-a-boy-with-hereditary-sensory-and-autonomic-neuropathy-type-viii-a-case-report-and-review-of-the-literature
#11
Karim Elhennawy, Seif Reda, Christian Finke, Luitgard Graul-Neumann, Paul-Georg Jost-Brinkmann, Theodosia Bartzela
BACKGROUND: Hereditary sensory and autonomic neuropathy type VIII is a rare autosomal recessive inherited disorder. Chen et al. recently identified the causative gene and characterized biallelic mutations in the PR domain-containing protein 12 gene, which plays a role in the development of pain-sensing nerve cells. Our patient's family was included in Chen and colleagues' study. We performed a literature review of the PubMed library (January 1985 to December 2016) on hereditary sensory and autonomic neuropathy type I to VIII genetic disorders and their orofacial manifestations...
August 15, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28806189/the-use-of-optical-coherence-tomography-in-neuro-ophthalmology
#12
Noel C Y Chan, Carmen K M Chan
PURPOSE OF REVIEW: In the last decade, with the advances of optical coherence tomography (OCT) technology, different imaging protocols and analysis algorithms have been introduced to maximize the potential of this diagnostic tool in the evaluation of different eye diseases. This review aims to provide an update on these additional features, with respect to the management of a diverse range of neuro-ophthalmologic conditions. RECENT FINDINGS: Macular ganglion cell complex (mGCC) analysis has been shown to be superior to peripapillary retinal nerve fiber layer (pRNFL) analysis in certain settings, such as differentiating Leber's hereditary optic neuropathy from functional visual loss; monitoring neurodegenerative diseases or multiple sclerosis; and predicting visual loss in nonarteritic ischemic optic neuropathy...
August 12, 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28805766/-results-of-a-clinical-and-genealogical-analysis-of-pedigrees-of-children-with-cerebral-palsy-in-the-population-of-rostov-region
#13
V A Tupikov, T S Kolmakova, V B Shamik, M V Tupikov, N M Churilov
AIM: To perform clinical and genealogical pedigree analysis and determine the proportion of hereditary factors in the etiopathogenesis of cerebral palsy (CP) in children in the Rostov Region. MATERIAL AND METHODS: Pedigrees and the prevalence of CP, congenital malformations and other related diseases among relatives of I, II and III degrees of kinship of 229 probands with CP were studied. RESULTS AND CONCLUSION: The family concentration of the disease was detected in 15 (6...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/28804827/assessment-of-hereditary-thrombophilia-performance-of-antithrombin-at-testing
#14
Jana N Gausman, Richard A Marlar
Antithrombin (AT) is a naturally occurring plasma inhibitor of coagulation, which is a synthesized in the liver. AT inhibits coagulation serine proteases (the enzymatically activated forms of the clotting factors), mainly thrombin (factor IIa) and factor Xa, but also to a lesser extent factors IXa, XIa, and XIIa. Acting alone, AT inhibits coagulation factors, but does this very slowly; however, when coupled with heparin as a cofactor, the speed of inhibition is increased many fold. The AT/Heparin complex is the most powerful naturally occurring anticoagulant in blood...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28803159/telangiectasias-small-lesions-referring-to-serious-disorders
#15
REVIEW
J H Schieving, M H D Schoenaker, C M Weemaes, M van Deuren, M van der Flier, M M Seyger, M A A P Willemsen
Telangiectasias are prominent small vessels (venules, capillaries or arterioles) that are visible as small red-purple focal lesions in the skin and mucous membranes. They can serve as a cutaneous marker for a number of primary (mostly hereditary) disorders and they can be secondary to other (systemic) diseases. Patients with telangiectasias are seen by general health practitioners, pediatricians, (pediatric) neurologists, dermatologists, and ophthalmologists. In this article we give an overview of the different disorders in which telangiectasias are a prominent feature, focusing on neurocutaneous disorders in which they serve as a marker for establishing the right diagnosis...
July 29, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28802665/no-evidence-of-association-between-optic-neuritis-and-secondary-lhon-mtdna-mutations-in-patients-with-multiple-sclerosis
#16
Sasan Andalib, Mahnaz Talebi, Ebrahim Sakhinia, Mehdi Farhoudi, Homayoun Sadeghi-Bazargani, Nooshin Masoodian, Manouchehr Seyedi Vafaee, Albert Gjedde
Leber's Hereditary Optic Neuropathy (LHON) shares features with Multiple Sclerosis (MS). Both diseases develop optic lesions. Frequent secondary LHON mutations in MS patients may explain the optic damage. Here, we tested the hypothesis that secondary LHON mutations are associated with optic neuritis (ON) in MS patients. We recruited 56 MS subjects with ON and 47 MS subjects without ON. DNA was extracted by salting out, after sampling of peripheral blood from each participant. We completed Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) analysis with appropriate primers and restriction endonucleases for seven secondary LHON mutations...
August 9, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28802056/different-nerve-ultrasound-patterns-in-charcot-marie-tooth-types-and-hnpp
#17
Luca Padua, Daniele Coraci, Marta Lucchetta, Ilaria Paolasso, Costanza Pazzaglia, Giuseppe Granata, Mario Cacciavillani, Marco Luigetti, Fiore Manganelli, Chiara Pisciotta, Giuseppe Piscosquito, Davide Pareyson, Chiara Briani
INTRODUCTION: Nerve ultrasound in Charcot-Marie-Tooth disease (CMT) has mostly focused on upper limbs. We performed an evaluation of a large cohort of CMT patients in which we sonographically characterized nerve abnormalities in different disease types, ages and nerves. METHODS: Seventy patients affected by different CMT types and hereditary neuropathy with liability to pressure palsies (HNPP) were evaluated, assessing median, ulnar, fibular, tibial and sural nerves bilaterally...
August 12, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28801812/a%C3%A2-synopsis-of-the-history-of-hansen-s-disease
#18
Raissa Gonçalves Couto Dal Secco, Katlein França, David Castillo, Mana AlHarbi, Torello Lotti, Massimo Fioranelli, Maria Grazia Roccia
Leprosy is a contagious infectious disease caused by the bacillus Mycobacterium leprae. This microorganism was discovered by Dr. Gerhard Hansen, and the illness was then baptized as Hansen's disease. For a long time, Hansen's disease was thought to be hereditary-a curse or a punishment from God. The disease affects skin and nerves and can cause severe damage. Due to its destructive effects, leprosy has caused fear, segregation, and prejudice in all societies since Biblical times. Patients with Hansen's disease have not been treated humanely around the world throughout the ages...
August 11, 2017: Wiener Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28800668/-epidemiology-risk-factors-and-risk-stratification-of-venous-thromboembolism-in-pregnancy-and-the-puerperium
#19
Panagiotis Tsikouras, Georg-Friedrich von Tempelhoff, Werner Rath
Venous thromboembolism (VTE) remains a leading cause of direct maternal deaths in the developed countries. The incidence of VTE has increased significantly during the past two decades. The absolute risk of VTE is estimated 0.6-2.2 per 1000 deliveries. Compared with age-matched non-pregnant women, the daily risk of VTE is increased 7- to 10-fold for antepartum VTE, but it is 15- to 35-fold for postpartum VTE. The incidence of pulmonary embolism (PE) during the first 6 weeks postpartum is nearly 15-fold higher compared to the incidence in pregnancy, and remains significantly increased up to 12 weeks postpartum...
August 2017: Zeitschrift Für Geburtshilfe und Neonatologie
https://www.readbyqxmd.com/read/28799054/identification-of-a-novel-variant-of-the-ret-proto-oncogene-in-a-novel-family-with-hirschsprung-s-disease
#20
Takafumi Kawano, Kazuyoshi Hosomichi, Ituro Inoue, Ryuichi Shimono, Shun Onishi, Kazuhiko Nakame, Tatsuru Kaji, Hiroshi Matsufuji, Satoshi Ieiri
PURPOSE: Hirschsprung's disease (HSCR) is a congenital disorder of the enteric nervous system characterized by the absence of ganglion cells in the Auerbach's and Meissner's plexuses. Although about 7% of cases are hereditary, the causal mutations have not been completely characterized. We encountered a novel family with inherited HSCR and screened them for causal mutations. METHODS: A Japanese family of five female patients and six unaffected individuals was subjected to a whole-exome analysis with a next-generation sequencer...
August 10, 2017: Pediatric Surgery International
keyword
keyword
58472
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

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"