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https://www.readbyqxmd.com/read/27935899/-algorithm-for-selection-of-individual-therapy-with-clopidogrel-in-vascular-surgical-practice
#1
A I Shevela, A A Slepukhina, E M Zelenskaya, T A Seredina, G I Lifshits
For treatment of patients with diseases of lower limb arteries and prevention of cardiovascular complications in high-risk patients (those with diabetes mellitus, arterial hypertension, dyslipidemia, obesity) permanent antiplatelet therapy is indicated. A problem is variable individual sensitivity to therapeutic agents. For antiplatelet therapy in patients with atherosclerosis of lower limb arteries there has been obtained an evidence-supported base concerning efficacy of long-term administration of clopidogrel preparations, unlike patients with acute coronary syndrome, for whom there has been accumulated an evidence-confirmed base of administering clopidogrel preparations, as well as ticagrelor and prasugrel in various clinical situations...
2016: Angiologii︠a︡ i Sosudistai︠a︡ Khirurgii︠a︡, Angiology and Vascular Surgery
https://www.readbyqxmd.com/read/27935852/three-cases-of-japanese-acromicric-geleophysic-dysplasia-with-fbn1-mutations-a-comparison-of-clinical-and-radiological-features
#2
Kosei Hasegawa, Chikahiko Numakura, Hiroyuki Tanaka, Mahoko Furujo, Toshihide Kubo, Yousuke Higuchi, Miho Yamashita, Hirokazu Tsukahara
Acromicric dysplasia (AD) and geleophysic dysplasia (GD) are rare skeletal dysplasias characterized by short stature, acromelia, joint contracture, hepatomegaly, hoarseness and respiratory distress. Compared with GD, AD presents with milder clinical and radiological features. Radiological findings of AD and GD consist of shortened tubular bones of the hands and feet, and deformed capital femoral epiphyses. The genetic cause of AD and some cases of GD was shown to be mutations in the transforming growth factor (TGF) β-binding protein-like domain 5 of the fibrillin 1 gene (FBN1), which is also mutated in Marfan syndrome...
December 9, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27935768/hypertrophic-osteoarthropathy-clinical-and-imaging-features
#3
Felix Y Yap, Matthew R Skalski, Dakshesh B Patel, Aaron J Schein, Eric A White, Anderanik Tomasian, Sulabha Masih, George R Matcuk
Hypertrophic osteoarthropathy (HOA) is a medical condition characterized by abnormal proliferation of skin and periosteal tissues involving the extremities and characterized by three clinical features: digital clubbing (also termed Hippocratic fingers), periostosis of tubular bones, and synovial effusions. HOA can be a primary entity, known as pachydermoperiostosis, or can be secondary to extraskeletal conditions, with different prognoses and management implications for each. There is a high association between secondary HOA and malignancy, especially non-small cell lung cancer...
December 9, 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/27935156/casp9-germline-mutation-in-a-family-with-multiple-brain-tumors
#4
Michael W Ronellenfitsch, Oh Ji Eun, Kaishi Satomi, Koichiro Sumi, Patrick N Harter, Joachim P Steinbach, Jörg Felsberg, David Capper, Catherine Voegele, Geoffroy Durand, James McKay, Florence Le Calvez-Kelm, Jens Schittenhelm, Barbara Klink, Michel Mittelbronn, Hiroko Ohgaki
We report a novel CASP9 germline mutation that may increase susceptibility to the development of brain tumors. We identified this mutation in a family in which three brain tumors had developed within three generations, including two anaplastic astrocytomas occurring in cousins. The cousins were diagnosed at similar ages (29 and 31 years), and their tumors showed similar histological features. Genetic analysis revealed somatic IDH1 and TP53 mutations in both tumors. However, no germline TP53 mutations were detected, despite the fact that this family fulfills the criteria of Li-Fraumeni-like syndrome...
December 9, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27935134/strain-and-time-dependent-alterations-in-hepatic-iron-metabolism-in-a-murine-model-of-nonalcoholic-steatohepatitis
#5
Steven A Bloomer, Alicia K Olivier, Ottar M Bergmann, M Meleah Mathahs, Kimberly A Broadhurst, Hasan Hicsasmaz, Kyle E Brown
: Nonalcoholic steatohepatitis is a common liver disease that is often accompanied by dysregulated iron metabolism. The aim of the study was to test the hypothesis that aberrant iron metabolism in nonalcoholic steatohepatitis is modulated by genetic susceptibility to inflammation and oxidative stress. Hepatic histology and iron content were assessed in 3 inbred strains of mice (C57BL/6, BALB/c, and C3H/HeJ) fed an atherogenic diet (AD). Hepatic expression of genes relevant to iron metabolism, inflammation, and oxidative stress were quantitated by real-time reverse transcription-polymerase chain reaction...
December 2016: Cell Biochemistry and Function
https://www.readbyqxmd.com/read/27934915/the-defining-dna-methylation-signature-of-floating-harbor-syndrome
#6
Rebecca L Hood, Laila C Schenkel, Sarah M Nikkel, Peter J Ainsworth, Guillaume Pare, Kym M Boycott, Dennis E Bulman, Bekim Sadikovic
Floating-Harbor syndrome (FHS) is an autosomal dominant genetic condition characterized by short stature, delayed osseous maturation, expressive language impairment, and unique facial dysmorphology. We previously identified mutations in the chromatin remodeling protein SRCAP (SNF2-related CBP Activator Protein) as the cause of FHS. SRCAP has multiple roles in chromatin and transcriptional regulation; however, specific epigenetic consequences of SRCAP mutations remain to be described. Using high resolution genome-wide DNA methylation analysis, we identified a unique and highly specific DNA methylation "epi-signature" in the peripheral blood of individuals with FHS...
December 9, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27934798/identification-of-a-novel-collagen-type-iv-alpha-4-col4a4-mutation-in-a-chinese-family-with-autosomal-dominant-alport-syndrome-using-exome-sequencing
#7
Sheng Deng, Hongbo Xu, Jinzhong Yuan, Jingjing Xiao, Lamei Yuan, Xiong Deng, Liping Guan, Anding Zhu, Pengfei Rong, Jianguo Zhang, Hao Deng
BACKGROUND & OBJECTIVES: Alport syndrome (AS) is an inherited disorder characterized by glomerulonephritis and end-stage renal disease (ESRD). The aim of this study was to identify the gene responsible for the glomerulopathy in a Chinese family with autosomal dominant AS using exome sequencing. METHODS: A 4-generation, 30-member Chinese Han family was enrolled in this study. Exome sequencing was conducted in the proband of the family, and then direct sequencing was performed in family members of the pedigree and 100 normal controls...
August 2016: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/27934598/human-embryonic-stem-cells-derived-from-abnormal-blastocyst-donated-by-polycystic-kidney-syndrome-patient
#8
Qi Ouyang, Xiaoying Zhou, Jing Chen, Juan Du, Guangxiu Lu, Ge Lin, Yi Sun
Human embryonic stem cell (hESC) line chHES-468 was derived from abnormal blastocyst donated by polycystic kidney syndrome (PKD) patient after preimplantation genetic diagnosis (PGD) treatment. DNA sequencing analysis confirmed that chHES-468 cell line carried a heterozygous mutation, c.10526_10527delAG, of PKD1. Characteristic tests proved that the chHES-468 cell line presented typical markers of pluripotency and had the capability to form the three germ layers both in vitro and in vivo.
November 5, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27934559/recurrent-nephrotic-syndrome-after-renal-transplant-in-children
#9
Bassam Saeed, Huda Mazloum
OBJECTIVES: Recurrent disease occurs in around 30% of children transplanted for steroid-resistant nephrotic syndrome. Its precipitating risk factors have rarely been studied in the Middle East. The aim of our study was to determine what characterizes posttransplant recurrence of nephrotic syndrome in Syrian children. MATERIALS AND METHODS: We performed a retrospective analysis of 12 nephrotic children who received 1 renal allograft at the Kidney Hospital in Damascus from 2002 to 2013...
December 2016: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/27933721/shared-molecular-networks-in-orofacial-and-neural-tube-development
#10
Youssef A Kousa, Tamer A Mansour, Haitham Seada, Samaneh Matoo, Brian C Schutte
BACKGROUND: Single genetic variants can affect multiple tissues during development. Thus it is possible that disruption of shared gene regulatory networks might underlie syndromic presentations. In this study, we explore this idea through examination of two critical developmental programs that control orofacial and neural tube development and identify shared regulatory factors and networks. Identification of these networks has the potential to yield additional candidate genes for poorly understood developmental disorders and assist in modeling and perhaps managing risk factors to prevent morbidly and mortality...
December 9, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27933446/permanent-tooth-agenesis-in-non-syndromic-robin-sequence-and-cleft-palate-prevalence-and-patterns
#11
Anneline de Smalen, Daan P F van Nunen, Ruurd R Hermus, Edwin M Ongkosuwito, Arjen J van Wijk, J Peter W Don Griot, Corstiaan C Breugem, Gem J C Kramer
OBJECTIVES: Partial tooth agenesis is frequently observed in Robin sequence. Tooth anomalies are increasingly considered as an extended phenotype of the cleft palate population. The study objective was to compare the prevalence and patterns of tooth agenesis in a group of patients with non-syndromic Robin sequence (ns-RS) and a group with non-syndromic cleft palate (ns-CP). MATERIALS AND METHODS: The panoramic radiographs of 115 ns-RS and 191 ns-CP patients were assessed for agenesis of the permanent dentition (excluding third molars) and the patterns recorded using the Tooth Agenesis Code...
December 9, 2016: Clinical Oral Investigations
https://www.readbyqxmd.com/read/27933342/prediction-of-nk-cell-licensing-level-in-selection-of-hematopoietic-stem-cell-donor-initial-results
#12
Marta Rogatko-Koroś, Renata Mika-Witkowska, Katarzyna Bogunia-Kubik, Barbara Wysoczańska, Emilia Jaskuła, Katarzyna Kościńska, Klaudia Nestorowicz, Joanna Dziopa, Urszula Szlendak, Sławomir Gwozdowicz, Elżbieta Graczyk-Pol, Andrzej Lange, Jacek Nowak
Natural killer (NK) cell licensing status depends on clonal expression of inhibitory killer cell immunoglobulin-like receptors (iKIR) and short term HLA environment. Licensed NK cells are more efficient in tumor killing than unlicensed NK cells. Cognate KIR-HLA pairs in hematopoietic stem cell transplant (HSCT) donor and recipient are decisive for the possible change in the NK cell licensing status after HSCT. We assessed clinical outcomes in 297 patients with lymphoproliferative or myeloproliferative malignancies, or myelodysplastic syndrome in a model with upward licensing, downward resetting, and unchanged licensing genetics status after T cell replate HSCT from unrelated donors...
December 8, 2016: Archivum Immunologiae et Therapiae Experimentalis
https://www.readbyqxmd.com/read/27933285/developmental-profile-and-diagnoses-in-children-presenting-with-motor-stereotypies
#13
Francesco Cardona, Francesca Valente, Daniela Miraglia, Caterina D'Ardia, Valentina Baglioni, Flavia Chiarotti
INTRODUCTION: Motor stereotypies represent a typical example of the difficulty in distinguishing non-clinical behaviors (physiological and transient) from symptoms or among different disorders ["primary stereotypies," associated with autistic spectrum disorder (ASD), intellectual disabilities, genetic syndromes, and sensory impairment]. The aim of this study was to obtain an accurate assessment on the relationship between stereotypies and neurodevelopmental disorders. METHODS: We studied 23 children (3 girls), aged 36-95 months, who requested a consultation due to the persistence or increased severity of motor stereotypies...
2016: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/27933213/molecular-pathology-of-cancer-how-to-communicate-with-disease
#14
REVIEW
Peter Birner, Gerald Prager, Berthold Streubel
: Recent technical advances have brought insights into the biology of cancer in human, establishing it as a disease driven by genetic mutations. Beside inherited family tumour syndromes caused by germline mutations, somatic genetic alterations occur early in tumourigenesis, which accumulate during the progression of the disease and its treatment. Based on these observations, medical oncology has started to enter an era of stratified medicine, where treatment selection is becoming tailored to drugable molecular pathways...
2016: ESMO Open
https://www.readbyqxmd.com/read/27933191/genetics-of-inherited-cardiocutaneous-syndromes-a-review
#15
REVIEW
Tara Bardawil, Samar Khalil, Christina Bergqvist, Ossama Abbas, Abdul Ghani Kibbi, Fadi Bitar, Georges Nemer, Mazen Kurban
The life of a human being originates as a single cell which, under the influence of certain factors, divides sequentially into multiple cells that subsequently become committed to develop and differentiate into the different structures and organs. Alterations occurring early on in the development process may lead to fetal demise in utero. Conversely, abnormalities at later stages may result in structural and/or functional abnormalities of varying severities. The cardiovascular system and skin share certain developmental and structural factors; therefore, it is not surprising to find several inherited syndromes with both cardiac and skin manifestations...
2016: Open Heart
https://www.readbyqxmd.com/read/27932857/vogt-koyanagi-harada-syndrome-current-perspectives
#16
REVIEW
Abeir Baltmr, Sue Lightman, Oren Tomkins-Netzer
Vogt-Koyanagi-Harada syndrome is a cause of noninfectious panuveitis, leading to significant vision loss in many patients. It is an autoimmune disease occurring in genetically susceptible individuals and clinically presents as bilateral panuveitis with serous retinal detachments and hyperemic, swollen optic discs, which are associated with neurological and auditory manifestations. Early diagnosis and prompt and adequate treatment with immunosuppressive agents (corticosteroids and other immunosuppressive drugs) may halt disease progression and prevent recurrences and vision loss...
2016: Clinical Ophthalmology
https://www.readbyqxmd.com/read/27932480/magi2-mutations-cause-congenital-nephrotic-syndrome
#17
Agnieszka Bierzynska, Katrina Soderquest, Philip Dean, Elizabeth Colby, Ruth Rollason, Caroline Jones, Carol D Inward, Hugh J McCarthy, Michael A Simpson, Graham M Lord, Maggie Williams, Gavin I Welsh, Ania B Koziell, Moin A Saleem
Steroid-resistant nephrotic syndrome (SRNS), a heterogeneous disorder of the renal glomerular filtration barrier, results in impairment of glomerular permselectivity. Inheritance of genetic SRNS may be autosomal dominant or recessive, with a subset of autosomal recessive SRNS presenting as congenital nephrotic syndrome (CNS). Mutations in 53 genes are associated with human SRNS, but these mutations explain ≤30% of patients with hereditary cases and only 20% of patients with sporadic cases. The proteins encoded by these genes are expressed in podocytes, and malfunction of these proteins leads to a universal end point of podocyte injury, glomerular filtration barrier disruption, and SRNS...
December 8, 2016: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/27932477/moss-produced-glycosylation-optimized-human-factor-h-for-therapeutic-application-in-complement-disorders
#18
Stefan Michelfelder, Juliana Parsons, Lennard L Bohlender, Sebastian N W Hoernstein, Holger Niederkrüger, Andreas Busch, Nicola Krieghoff, Jonas Koch, Benjamin Fode, Andreas Schaaf, Thomas Frischmuth, Martin Pohl, Peter F Zipfel, Ralf Reski, Eva L Decker, Karsten Häffner
Genetic defects in complement regulatory proteins can lead to severe renal diseases, including atypical hemolytic uremic syndrome and C3 glomerulopathies, and age-related macular degeneration. The majority of the mutations found in patients with these diseases affect the glycoprotein complement factor H, the main regulator of the alternative pathway of complement activation. Therapeutic options are limited, and novel treatments, specifically those targeting alternative pathway activation, are highly desirable...
December 8, 2016: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/27932425/scn2b-deletion-in-mice-results-in-ventricular-and-atrial-arrhythmias
#19
Yangyang Bao, B Cicero Willis, Chad R Frasier, Luis F Lopez-Santiago, Xianming Lin, Roberto Ramos-Mondragón, David S Auerbach, Chunling Chen, Zhenxun Wang, Justus Anumonwo, Héctor H Valdivia, Mario Delmar, José Jalife, Lori L Isom
BACKGROUND: Mutations in SCN2B, encoding voltage-gated sodium channel β2-subunits, are associated with human cardiac arrhythmias, including atrial fibrillation and Brugada syndrome. Because of this, we propose that β2-subunits play critical roles in the establishment or maintenance of normal cardiac electric activity in vivo. METHODS AND RESULTS: To understand the pathophysiological roles of β2 in the heart, we investigated the cardiac phenotype of Scn2b null mice...
December 2016: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/27932304/vitamin-d-and-type-2-diabetes
#20
REVIEW
Paul Lips, Marelise Eekhoff, Natasja Vzn Schoor, Mirjam Oosterwerff, Renate de Jongh, Yvonne Krul-Poel, Suat Simsek
Vitamin D deficiency is associated with a decreased insulin release, insulin resistance and type 2 diabetes in experimental and epidemiological studies. Animal studies show that 1α,25-dihydroxyvitamin D3 (1,25(OH)2D3) stimulates the pancreatic β-cell to secrete insulin. The relationship between vitamin D deficiency and insulin resistance could develop through inflammation, as vitamin D deficiency is associated with increased inflammatory markers. In addition, genetic polymorphisms of vitamin D -related genes may predispose to impaired glycemic control and type 2 diabetes...
December 5, 2016: Journal of Steroid Biochemistry and Molecular Biology
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