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Hereditary Disease

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https://www.readbyqxmd.com/read/29678961/-capn1-mutations-broadening-the-hereditary-spastic-paraplegia-spinocerebellar-ataxia-phenotype
#1
Jeffrey Lambe, Bernadette Monaghan, Tudor Munteanu, Janice Redmond
Increasing availability of next-generation sequencing technologies has revealed several limitations of diagnosis-driven traditional clinicogenetic disease classifications, particularly among patients with an atypical or mixed phenotype. Hereditary spastic paraplegia (HSP) and spinocerebellar ataxia (SCA) are two such disease entities with an often overlapping presentation, in which next generation exome sequencing has played a key role in identification of genes causing disease along a continuum of ataxia and spasticity...
April 20, 2018: Practical Neurology
https://www.readbyqxmd.com/read/29678888/bovine-spastic-syndrome-a-review
#2
REVIEW
Victoria Goeckmann, Sophie Rothammer, Ivica Medugorac
Bovine spastic syndrome (BSS) was described for the first time in 1941. The disease occurs in various-maybe even all-cattle breeds and is a chronic-progressive neuromuscular disorder that commonly affects cattle of at least three years of age. Typical clinical signs of the disease are clonic-tonic cramps of the hindlimbs that occur in attacks. Since BSS does not recover, affected animals can only be treated symptomatically by improving welfare conditions and management factors, or with physical therapy or drugs...
April 20, 2018: Veterinary Record
https://www.readbyqxmd.com/read/29674172/generation-of-induced-pluripotent-stem-cells-from-a-patient-with-x-linked-juvenile-retinoschisis
#3
Chi-Hsien Peng, Kang-Chieh Huang, Huai-En Lu, Shih-Han Syu, Aliaksandr A Yarmishyn, Jyh-Feng Lu, Waradee Buddhakosai, Tai-Chi Lin, Chih-Chien Hsu, De-Kuang Hwang, Chia-Ning Shen, Shih-Jen Chen, Shih-Hwa Chiou
X-linked juvenile retinoschisis (XLRS) is a hereditary retinal dystrophy manifested as splitting of anatomical layers of retina. In this report, we generated a patient-specific induced pluripotent stem cell (iPSC) line, TVGH-iPSC-013-05, from the peripheral blood mononuclear cells of a male patient with XLRS by using the Sendai-virus delivery system. We believe that XLRS patient-specific iPSCs provide a powerful in vitro model for evaluating the pathological phenotypes of the disease.
April 11, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29671537/chronic-pancreatitis-diagnosis-and-treatment
#4
Kathleen Barry
Chronic pancreatitis is an irreversible and progressive disorder of the pancreas characterized by inflammation, fibrosis, and scarring. Exocrine and endocrine functions are lost, often leading to chronic pain. The etiology is multifactorial, although alcoholism is the most significant risk factor in adults. The average age at diagnosis is 35 to 55 years. If chronic pancreatitis is suspected, contrast-enhanced computed tomography is the best imaging modality for diagnosis. Computed tomography may be inconclusive in early stages of the disease, so other modalities such as magnetic resonance imaging, magnetic resonance cholangiopancreatography, or endoscopic ultrasonography with or without biopsy may be used...
March 15, 2018: American Family Physician
https://www.readbyqxmd.com/read/29670510/differential-expression-of-several-mirnas-and-the-host-genes-aatk-and-dnm2-in-leukocytes-of-sporadic-als-patients
#5
Katarina Vrabec, Emanuela Boštjančič, Blaž Koritnik, Lea Leonardis, Leja Dolenc Grošelj, Janez Zidar, Boris Rogelj, Damjan Glavač, Metka Ravnik-Glavač
Genetic studies have managed to explain many cases of familial amyotrophic lateral sclerosis (ALS) through mutations in several genes. However, the cause of a majority of sporadic cases remains unknown. Recently, epigenetics, especially miRNA studies, show some promising aspects. We aimed to evaluate the differential expression of 10 miRNAs, including miR-9, miR-338, miR-638, miR-663a, miR-124a, miR-143, miR-451a, miR-132, miR-206, and let-7b, for which some connection to ALS was shown previously in ALS culture cells, animal models or patients, and in three miRNA host genes, including C1orf61 (miR-9), AATK (miR-338), and DNM2 (miR-638), in leukocyte samples of 84 patients with sporadic ALS...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29669851/systemic-administration-of-the-antisense-oligonucleotide-ns-065-ncnp-01-for-skipping-of-exon-53-in-patients-with-duchenne-muscular-dystrophy
#6
Hirofumi Komaki, Tetsuya Nagata, Takashi Saito, Satoru Masuda, Eri Takeshita, Masayuki Sasaki, Hisateru Tachimori, Harumasa Nakamura, Yoshitsugu Aoki, Shin'ichi Takeda
Duchenne muscular dystrophy (DMD) is a lethal hereditary muscle disease caused by mutations in the gene encoding the muscle protein dystrophin. These mutations result in a shift in the open reading frame leading to loss of the dystrophin protein. Antisense oligonucleotides (ASOs) that induce exon skipping correct this frame shift during pre-mRNA splicing and partially restore dystrophin expression in mouse and dog models. We conducted a phase 1, open-label, dose-escalation clinical trial to determine the safety, pharmacokinetics, and activity of NS-065/NCNP-01, a morpholino ASO that enables skipping of exon 53...
April 18, 2018: Science Translational Medicine
https://www.readbyqxmd.com/read/29669666/hereditary-angioedema-from-the-patient-s-perspective-a-follow-up-patient-survey
#7
Aleena Banerji, Yu Li, Paula Busse, Marc A Riedl, Nicole S Holtzman, Huamin Henry Li, Mark Davis-Lorton, Jonathan A Bernstein, Michael Frank, Anthony J Castaldo, Janet Long, Bruce Zuraw, William Lumry, Sandra Christiansen
BACKGROUND: We conducted our first patient survey at the 2013 hereditary angioedema (HAE) patient summit and learned that, despite several novel therapies, the burden of disease was high. OBJECTIVE: To determine, from the patient's perspective, if any improvements in the current state of HAE care occurred over a two-year period between HAE patient summits. METHODS: A patient survey was conducted at the 2015 Hereditary Angioedema Association conference by using paper surveys that aimed at understanding the current state of HAE care...
May 1, 2018: Allergy and Asthma Proceedings:
https://www.readbyqxmd.com/read/29666677/should-premarital-screening-for-blood-disorders-be-an-obligatory-measure-in-oman
#8
Amal A Al-Balushi, Budoor Al-Hinai
Due to the high rate of consanguineous marriages in Oman, there is a correspondingly high prevalence of hereditary blood disorders, particularly sickle cell disease and β-thalassaemia. This article proposes the possibility of implementing mandatory premarital carrier screening for blood disorders in Oman, while giving due consideration to potential social and cultural obstacles. Although the implementation of such legislation would require collaboration between different sectors and may negatively affect the autonomy of certain individuals, mandatory premarital screening would help to alleviate the burden of hereditary blood disorders on the national healthcare system, as well as reduce avoidable suffering among carriers and their families...
February 2018: Sultan Qaboos University Medical Journal
https://www.readbyqxmd.com/read/29666355/therapeutic-avenues-for-hereditary-forms-of-retinal-blindness
#9
Chitra Kannabiran, Indumathi Mariappan
Hereditary retinal diseases, known as retinal degenerations or dystrophies, are a large group of inherited eye disorders resulting in irreversible visual loss and blindness. They develop due to mutations in one or more genes that lead to the death of the retinal photoreceptor cells. Till date, mutations in over 200 genes are known to be associated with all different forms of retinal disorders. The enormous genetic heterogeneity of this group of diseases has posedmany challenges in understanding the mechanisms of disease and in developing suitable therapies...
March 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29662934/bevacizumab-for-refractory-gastrointestinal-bleeding-in-rendu-osler-weber-disease
#10
Carlos Bernardes, Sara Santos, Rafaela Loureiro, Verónica Borges, Gonçalo Ramos
Rendu-Osler-Weber disease, also known as hereditary hemorrhagic telangiectasia, is a rare autosomal dominant disorder which is often characterized by recurrent epistaxis, mucocutaneous and gastrointestinal telangiectasias, and visceral arteriovenous malformations. Patients with gastrointestinal involvement can present with a wide spectrum of severity, which may vary from uncomplicated iron deficiency anemia to continuous and refractory bleeding. We present the case of a 62-year-old female, who was admitted with anemia following several episodes of melena, and whose endoscopic examination revealed multiple angiodysplasias in the stomach and small bowel...
March 2018: GE Portuguese Journal of Gastroenterology
https://www.readbyqxmd.com/read/29662268/a-pediatric-case-of-pheochromocytoma-without-apparent-hypertension-associated-with-von-hippel-lindau-disease
#11
Junko Igaki, Akira Nishi, Takeshi Sato, Tomonobu Hasegawa
Pheochromocytomas are catecholamine-secreting tumors. These tumors are rare in children, and they may be associated with hereditary syndromes such as von Hippel-Lindau (VHL) disease. Most pediatric patients with pheochromocytoma present with sustained hypertension, while 10% to 69% of adult patients are asymptomatic. Herein, we present the case of a 12-yr-old Japanese girl with pheochromocytoma due to a germline mutation in the VHL (Arg161Gln). The only complaint was loss of weight. Pyrexia, anemia, and increases in C-reactive protein (CRP) and ferritin were observed...
2018: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/29661209/gastrointestinal-and-urinary-complaints-in-adults-with-hereditary-spastic-paraparesis
#12
Øivind J Kanavin, Krister W Fjermestad
BACKGROUND: Hereditary spastic paraparesis (HSP) is a group of rare genetic disorders affecting the central nervous system. Pure HSP is limited to lower limb spasticity and urinary voiding dysfunction. Complex HSP involves additional neurological features. Beyond the described core symptoms, knowledge about the burden of disease for adults with HSP is limited, particularly regarding gastrointestinal functions, fecal incontinence, and urinary symptoms. METHODS: We conducted a cross-sectional self-report survey with 108 adult HSP patients (Mage  = 57...
April 16, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29660923/haemochromatosis-pathophysiology-and-the-red-blood-cell1
#13
Kieran J Richardson, Antony P McNamee, Michael J Simmonds
Haemochromatosis remains the most prevalent genetic disorder of Caucasian populations in Australia and the United States, occurring in ∼1 of 200 individuals and having a carrier frequency of 10-14%. Hereditary haemochromatosis is an autosomal recessive condition, that is phenotypically characterised by a gradual accumulation of iron, above and beyond that required for biological function. Once the binding capacity of iron carriers reaches saturation, the highly reactive free iron generates radicals that may lead to widespread cellular dysfunction...
April 7, 2018: Clinical Hemorheology and Microcirculation
https://www.readbyqxmd.com/read/29660555/rare-hereditary-abnormal-bone-hyperplasia-and-ossification-of-the-yellow-ligament-complicated-by-thoracic-spinal-stenosis
#14
Jin Peng Du, Yong Fan, Dingjun Hao
We report a rare case of familial inherited abnormal bone hyperplasia and ossification of the yellow ligament complicated by spinal stenosis. Complete reconstruction of stability and spinal cord decompression were achieved by posterior total laminectomy, fusion and internal fixation. We cannot clearly describe the inheritance characteristics of the disease. Although the risk of surgical treatment is high, it is still necessary to perform surgery, and the effect of the operation is substantial.
April 13, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29656343/lateralisation-in-parkinson-disease
#15
REVIEW
P Riederer, K A Jellinger, P Kolber, G Hipp, J Sian-Hülsmann, R Krüger
Asymmetry of dopaminergic neurodegeneration and subsequent lateralisation of motor symptoms are distinctive features of Parkinson's disease compared to other forms of neurodegenerative or symptomatic parkinsonism. Even 200 years after the first description of the disease, the underlying causes for this striking clinicopathological feature are not yet fully understood. There is increasing evidence that lateralisation of disease is due to a complex interplay of hereditary and environmental factors that are reflected not only in the concept of dominant hemispheres and handedness but also in specific susceptibilities of neuronal subpopulations within the substantia nigra...
April 14, 2018: Cell and Tissue Research
https://www.readbyqxmd.com/read/29656178/generation-of-3-spinocerebellar-ataxia-type-1-sca1-patient-derived-induced-pluripotent-stem-cell-lines-lumci002-a-b-and-c-and-2-unaffected-sibling-control-induced-pluripotent-stem-cell-lines-lumci003-a-and-b
#16
Ronald A M Buijsen, Sarah L Gardiner, Marga J Bouma, Linda M van der Graaf, Merel W Boogaard, Barry A Pepers, Bert Eussen, Annelies de Klein, Christian Freund, Willeke M C van Roon-Mom
Spinocerebellar ataxia type 1 (SCA1) is a hereditary neurodegenerative disease caused by a CAG repeat expansion in exon 8 of the ATXN1 gene. We generated induced pluripotent stem cells (hiPSCs) from a SCA1 patient and his non-affected sister by using non-integrating Sendai Viruses (SeV). The resulting hiPSCs are SeVfree, express pluripotency markers, display a normal karyotype, retain the mutation (length of the CAG repeat expansion in the ATXN1 gene) and are able to differentiate into the three germ layers in vitro...
April 5, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29653220/genetic-analysis-of-charcot-marie-tooth-disease-in-denmark-and-the-implementation-of-a-next-generation-sequencing-platform
#17
Signe Vaeth, Rikke Christensen, Morten Dunø, Dorte Launholt Lildballe, Kasper Thorsen, John Vissing, Kirsten Svenstrup, Jens Michael Hertz, Henning Andersen, Uffe Birk Jensen
Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of hereditary polyneuropathies. Variants in more than 80 different genes have been associated with the disorder. In recent years, the introduction of next generation sequencing (NGS) techniques have completely changed the genetic diagnostic approach from the analysis of a handful of genes to the analysis of all genes associated with CMT in a single run. In this study we describe the CMT diagnostics in Denmark in 1992-2012, prior to the implementation of NGS, by combining laboratory- and national registry data...
April 10, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29652991/-genetic-analysis-of-a-family-affected-with-pulmonary-hypertension-secondary-to-hereditary-hemorrhagic-telangiectasia
#18
Xuqin Du, Yiran Wang, Qiao Ye
OBJECTIVE: To carry out genetic testing for a family affected with pulmonary hypertension (PH) as the initial sign of hereditary hemorrhagic telangiectasia (HHT). METHODS: High throughput sequencing was performed to detect potential mutation in the coding regions of endoglin (ENG), activin receptor-like kinase 1 (ACVRL1) and mothers against decapentaplegic homolog 4 (SMAD4) genes. RESULTS: A pathogenic heterozygous c.814C>T (p.Gln272Ter) mutation of the ACVRL1 gene was identified in the proband...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29652988/-genetic-and-prenatal-diagnosis-of-a-retinitis-pigmentosa-pedigree
#19
Hongfei Kang, Nan Bai, Shiyue Mei, Xiangdong Kong
OBJECTIVE: To explore the genetic etiology of a pedigree affected with hereditary retinitis pigmentosa. METHODS: High-throughput DNA sequencing was used to analyze the sequences of 173 genes associated with hereditary eye diseases in the proband. Suspected mutation was verified with PCR amplification and Sanger sequencing. RESULTS: The proband was found to have carried a c.570_571 ins GAAGATGCTGT insertional mutation in the RP2 gene located on the X chromosome...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29652986/-clinical-and-genetic-analysis-of-three-pedigrees-affected-with-myotonic-dystrophy
#20
Hongyan Huang, Xinglong Yang, Yanming Xu
OBJECTIVE: To carry out clinical and genetic analysis for three pedigrees affected with myotonic dystrophy type 1 (DM1). METHODS: Three probands with clinically diagnosed DM and their familial members were recruited. Clinical data of the patients including clinical manifestations, electrocardiogram (ECG), and electromyogram (EEG) was collected. RESULTS: The clinical symptoms of all probands have progressed slowly and included myotonia, muscle weakness and muscle atrophy as the main manifestations...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
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