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https://www.readbyqxmd.com/read/28636205/progressive-scar14-with-unclear-speech-developmental-delay-tremor-and-behavioral-problems-caused-by-a-homozygous-deletion-of-the-sptbn2-pleckstrin-homology-domain
#1
Esra Yıldız Bölükbaşı, Muhammad Afzal, Sara Mumtaz, Nafees Ahmad, Sajid Malik, Aslıhan Tolun
We report on nine members of a consanguineous Pakistani family with primary presentation of intellectual disability, developmental delay, limb and gait ataxia, behavioral and speech problems, and tremor. By linkage mapping and exome sequencing we identified novel homozygous splicing variant c.6375-1G>C in SPTBN2. To date, only two other SPTBN2 mutations with recessive pattern of inheritance causing SCAR14 (spinocerebellar ataxia, autosomal recessive 14) that manifest with developmental ataxia and cognitive impairment, or cerebellar ataxia, mental retardation, and pyramidal signs have been reported...
June 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28636180/characterization-of-herpes-simplex-virus-infections-seen-in-the-pediatric-dermatology-office
#2
Julia K Gittler, Euphemia W Mu, Seth J Orlow
BACKGROUND/OBJECTIVES: Atypical and severe clinical manifestations of primary and recurrent herpes simplex virus (HSV) infections may present to a pediatric dermatologist for evaluation. The purpose of this study was to characterize the clinical features of the population diagnosed with HSV referred to a pediatric dermatology office. METHODS: This retrospective case series examined patients diagnosed with HSV in a pediatric dermatology practice at an academic medical center from 2005 to 2015...
June 21, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28636167/berberine-ameliorates-collagen-induced-arthritis-in-rats-by-suppressing-th17-cell-responses-via-inducing-cortistatin-in-the-gut
#3
Mengfan Yue, Yufeng Xia, Can Shi, Chunge Guan, Yunfan Li, Rui Liu, Zhifeng Wei, Yue Dai
Berberine, an isoquinoline alkaloid, has been reported to ameliorate various autoimmune diseases including rheumatoid arthritis by oral administration. However, its mechanism remains mysterious due to an extremely low bioavailability. The fact that berberine is easy to accumulate in gut, the largest endocrine organ in the body, attracts us to explore its anti-arthritic mechanism in view of the induction of intestinal immunosuppressive neuropeptides. In this study, berberine (200 mg/kg, i.g.) was shown to ameliorate collagen-induced arthritis in rats, which was manifested by the reduction of clinical signs and joint destruction, as well as marked down-regulation of Th17 cell frequency and IL-17 level in blood...
June 21, 2017: FEBS Journal
https://www.readbyqxmd.com/read/28635993/head-and-neck-vascular-anomalies-a-multidisciplinary-approach-and-diagnostic-criteria
#4
L Moneghini, V Sangiorgio, D Tosi, G Colletti, F Melchiorre, V Baraldini, D Graziani, R M Alfano, G Vercellio, G Bulfamante
Vascular anomalies represent a heterogeneous group of pathologies of the circulatory system that can affect any type of hematic and /or lymphatic vessel of different diameter or anatomic site. The extreme variability of tissue types and districts involved by these lesions determines a wide heterogeneity of clinical manifestations, resulting in involvement of different medical expertise. In this context, a commonly agreed terminology is crucial for the appropriate evaluation and multidisciplinary management of patients...
March 2017: Pathologica
https://www.readbyqxmd.com/read/28635909/-chronic-obstructive-pulmonary-disease-concurrent-with-metabolic-syndrome-pathophysiological-and-clinical-features
#5
A V Budnevsky, E S Ovsyannikov, N B Labzhania
Chronic obstructive pulmonary disease (COPD) still remains a serious public health problem, which is a common cause of disability and death in the able-bodied population. Furthermore, the number of patients with metabolic syndrome (MS) is steadily increasing worldwide. Recently, there is also an increase in the number of patients with COPD concurrent with MS, which is a mutually confounding risk factor for concomitant cardiovascular disease and adversely affects prognosis in these patients. Systemic subclinical inflammation is a common link between COPD and the components of MS...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28635683/blastic-plasmacytoid-dendritic-cell-neoplasm-with-pulmonary-involvement-and-atypical-skin-lesion
#6
Cyndi Myrelle da Silva Barros Romão, Cláudio José Dos Santos Júnior, Luiz Arthur Calheiros Leite, Maria Jordana Rocha Gomes Alves, Nathalia Silva Araújo, Anderson F L Castro, Muriel Silva Moura, Vitória Mikaelly da Silva Gomes, Arthur Moacir Costa Sampaio Batinga, João Antonio S Queiroz, Natanael Barbosa Dos Santos
BACKGROUND Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematodermic malignancy neoplasm with highly aggressive course and poor prognosis. This disease typically presents with cutaneous involvement as the first manifestation, with subsequent or simultaneous spread to bone marrow and peripheral blood.  CASE REPORT Here, we report the case of a 51-year-old woman who presented a violaceus skin lesion on the lateral region of the right thigh, weight loss, fever, and lymphadenopathies. Computed tomography (CT) displayed thoracic and abdominal lymph node and alveolar bleeding...
June 21, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28635423/inner-retinal-dystrophy-in-a-patient-with-biallelic-sequence-variants-in-brat1
#7
Julius T Oatts, Jacque L Duncan, Creig S Hoyt, Anne M Slavotinek, Anthony T Moore
BACKGROUND: Mutations in the BRCA1-associated protein required for the ataxia telangiectasia mutated (ATM) activation-1 (BRAT1) gene cause lethal neonatal rigidity and multifocal seizure syndrome characterized by rigidity and intractable seizures and a milder phenotype with intellectual disability, seizures, nonprogressive cerebellar ataxia or dyspraxia, and cerebellar atrophy. To date, nystagmus, cortical visual impairment, impairment of central vision, optic nerve hypoplasia, and optic atrophy have been described in this condition...
March 2, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28635323/preserving-employee-privacy-in-wellness
#8
Paul E Terry
The proposed "Preserving Employee Wellness Programs Act" states that the collection of information about the manifested disease or disorder of a family member shall not be considered an unlawful acquisition of genetic information. The bill recognizes employee privacy protections that are already in place and includes specific language relating to nondiscrimination based on illness. Why did legislation expressly intending to "preserve wellness programs" generate such antipathy about wellness among journalists? This article argues that those who are committed to preserving employee wellness must be equally committed to preserving employee privacy...
July 2017: American Journal of Health Promotion: AJHP
https://www.readbyqxmd.com/read/28634597/molecular-characterization-of-salmonella-from-human-and-animal-origins-in-uganda
#9
Atek Atwiine Kagirita, Andrew Baguma, Tonny Jimmy Owalla, Joel Bazira, Samuel Majalija
Sporadic Salmonella outbreaks with varying clinical presentations have been on the rise in various parts of Uganda. The sources of outbreaks and factors underlying the different clinical manifestation are curtailed by paucity of information on Salmonella genotypes and the associated virulence genes. This study reports molecular diversity of Salmonella enterica and their genetic virulence profiles among human and animal isolates. Characterization was done using Kauffman-White classification scheme and virulence genes analysis using multiplex PCR...
2017: International Journal of Bacteriology
https://www.readbyqxmd.com/read/28634594/pancreatic-cancer-heralded-by-worsening-glycemic-control-a-report-of-two-cases
#10
Dimpi Desai, Devika Rao, Vineeth Sukrithan, Eleanor Weinstein, Akankasha Goyal, Ulrich Schubart
Pancreatic ductal adenocarcinoma is the third leading cause of cancer-related death in the United States. Since it is usually diagnosed at an advanced stage, its prognosis remains poor. The initial presentation varies according to the tumor location. The most common presenting signs are weight loss, jaundice, and pain. Several epidemiological, clinical, and experimental studies over the past 2 decades have shown that long-standing diabetes is a modest risk factor for pancreatic cancer. However, new-onset diabetes has also been observed to be an early manifestation of pancreatic cancer...
April 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28634593/carcinoid-heart-disease-starting-from-heart-failure
#11
Nicole Bertin, Serena Favretto, Francesco Pelizzo, Lucio Mos, Franco Pertoldi, Olga Vriz
Carcinoid syndrome is the constellation of symptoms mediated by humoral factors produced by some carcinoid tumors. It consists primarily of vasomotor symptoms, gastrointestinal hypermotility, hypotension, and bronchospasm, due to the production and release of vasoactive substances. Carcinoid heart disease occurs in more than 50% of patients with carcinoid syndrome; in some cases, it represents the initial manifestation of the disease. We report the case of a 75-year-old woman with a metastatic neuroendocrine tumor admitted to the emergency room for fatigue and heart failure...
April 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28634553/acute-lymphoblastic-leukemia-with-infective-endocarditis-presented-with-unusual-intracardiac-mass
#12
Ali Sadeghpour Tabaei, Leili Koochakzadeh, Mohammadrafie Khorgami, Sepehr Sadeghpour Tabaei
Acute lymphoblastic leukemia (ALL) is a systemic disease that is presented with different symptoms and signs. Cardiac manifestation is rare in ALL, but it is very important and needs appropriate management. It usually presents as leukemic myocardial infiltration and in the presence of cardiac mass comprehensive evaluation for other etiologies is mandatory. We reported on a 6-year-old boy in remission phase of ALL and large cardiac mass in the right atrium with obscure early symptoms and signs, in whom infective endocarditis (IE) was diagnosed and appropriate medical treatment was performed...
2017: Case Reports in Cardiology
https://www.readbyqxmd.com/read/28634552/inherited-paediatric-motor-neuron-disorders-beyond-spinal-muscular-atrophy
#13
REVIEW
Hooi Ling Teoh, Kate Carey, Hugo Sampaio, David Mowat, Tony Roscioli, Michelle Farrar
Paediatric motor neuron diseases encompass a group of neurodegenerative diseases characterised by the onset of muscle weakness and atrophy before the age of 18 years, attributable to motor neuron loss across various neuronal networks in the brain and spinal cord. While the genetic underpinnings are diverse, advances in next generation sequencing have transformed diagnostic paradigms. This has reinforced the clinical phenotyping and molecular genetic expertise required to navigate the complexities of such diagnoses...
2017: Neural Plasticity
https://www.readbyqxmd.com/read/28634483/elicitor-induced-biochemical-and-molecular-manifestations-to-improve-drought-tolerance-in-rice-oryza-sativa-l-through-seed-priming
#14
Mahesh K Samota, Minnu Sasi, Monika Awana, Om P Yadav, S V Amitha Mithra, Aruna Tyagi, Suresh Kumar, Archana Singh
Rice (Oryza sativa L.) is one of the major grain cereals of the Indian subcontinent which face water-deficit stress for their cultivation. Seed-priming has been reported to be a useful approach to complement stress responses in plants. In the present study, seed-priming with hormonal or chemical elicitor [viz. methyl jasmonate (MJ), salicylic acid (SA), paclobutrazol (PB)] showed significant increase in total phenolic content, antioxidant activity and expression of Rice Drought-responsive (RD1 and RD2) genes (of AP2/ERF family) in contrasting rice genotypes (Nagina-22, drought-tolerant and Pusa Sugandh-5, drought-sensitive) under drought stress...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28634423/tumor-ras-gene-expression-levels-are-influenced-by-the-mutational-status-of-ras-genes-and-both-upstream-and-downstream-ras-pathway-genes
#15
Robert M Stephens, Ming Yi, Bailey Kessing, Dwight V Nissley, Frank McCormick
The 3 human RAS genes play pivotal roles regulating proliferation, differentiation, and survival in normal cells and become mutated in 15% to 20% of all human tumors and amplified in many others. In this report, we examined data from The Cancer Genome Atlas to investigate the relationship between RAS gene mutational status and messenger RNA expression. We show that all 3 RAS genes exhibit increased expression when they are mutated in a context-dependent manner. In the case of KRAS, this increase is manifested by a larger proportional increase in KRAS4A than KRAS4B, although both increase significantly...
2017: Cancer Informatics
https://www.readbyqxmd.com/read/28634305/data-driven-extraction-of-a-nested-model-of-human-brain-function
#16
Taylor Bolt, Jason S Nomi, B T Thomas Yeo, Lucina Q Uddin
Decades of cognitive neuroscience research have revealed two basic facts regarding task-driven brain activation patterns. First, distinct patterns of activation occur in response to different task demands. Second, a superordinate, dichotomous pattern of activation/de-activation, is common across a variety of task demands. We explore the possibility that a hierarchical model incorporates these two observed brain activation phenomena into a unifying framework. We apply a latent variable approach, exploratory bi-factor analysis, to a large set of human (both sexes) brain activation maps (n = 108) encompassing cognition, perception, action and emotion behavioral domains, to determine the potential existence of a nested structure of factors that underlies a variety of commonly observed activation patterns...
June 20, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28634198/the-effect-of-sustained-virological-response-on-the-risk-of-extrahepatic-manifestations-of-hepatitis-c-virus-infection
#17
Parag Mahale, Eric A Engels, Ruosha Li, Harrys A Torres, Lu-Yu Hwang, Eric L Brown, Jennifer R Kramer
BACKGROUND AND AIM: Chronic HCV infection is associated with several extrahepatic manifestations (EHMs). Data on the effect of sustained virological response (SVR) on the risk of EHMs are limited. METHODS: We conducted a retrospective cohort study using data of patients from the US Veterans Affairs HCV Clinical Case Registry who had a positive HCV RNA test (10/1999-08/2009). Patients receiving interferon-based antiviral therapy (AVT) were identified. SVR was defined as negative HCV RNA at least 12 weeks after end of AVT...
June 20, 2017: Gut
https://www.readbyqxmd.com/read/28634061/isolation-of-a-protease-resistant-and-ph-stable-%C3%AE-galactosidase-displaying-hydrolytic-efficacy-toward-raffinose-family-oligosaccharides-from-the-button-mushroom-agaricus-bisporus
#18
Yujing Hu, Mengjuan Zhu, Guoting Tian, Liyan Zhao, Hexiang Wang, Tzi Bun Ng
A 45-kDa monomeric acidic α-galactosidase with a specific activity of 193.12 units/mg was isolated from the fruiting bodies of Agaricus bisporus. Blast search of internal peptide sequences suggested that it is a member of GH family 27 and it is most similar to hypothetical protein AGABI2DRAFT_70106. The enzyme displayed maximal activity at pH 4.0 and 60°C, respectively. The enzyme remained stable within the pH range 2.0-9.0 but its activity was markedly suppressed in the presence of Cu(2+), Hg(2+), Fe(3+) and Ag(+) ions...
June 17, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/28633901/patient-ethnicity-and-causative-species-determine-the-manifestations-of-anti-interferon-gamma-autoantibody-associated-nontuberculous-mycobacterial-disease-a-review
#19
REVIEW
Isano Hase, Kozo Morimoto, Takuro Sakagami, Yoshiki Ishii, Jakko van Ingen
Nontuberculous mycobacteria (NTM) infections involving anti-interferon-gamma (IFN-γ)-neutralizing autoantibodies have been described in previously immunocompetent adults. To investigate the factors underlying various disease manifestations, we reviewed 35 articles published between January 2004 and November 2016 and identified 111 NTM patients with anti-IFN-γ autoantibodies. Rapidly growing mycobacteria (RGM) accounted for 53% of the isolated species. RGM were predominant among the NTM species isolated from Thai (73%), Chinese (58%) and Filipino (56%) patients, whereas M...
May 18, 2017: Diagnostic Microbiology and Infectious Disease
https://www.readbyqxmd.com/read/28633876/hemophagocytic-lymphohistiocytosis-as-presenting-manifestation-of-profound-combined-immunodeficiency-due-to-an-orai1-mutation
#20
Christian Klemann, Sandra Ammann, Miriam Heizmann, Sebastian Fuchs, Sebastian F Bode, Maximilian Heeg, Hans Fuchs, Kai Lehmberg, Udo Zur Stadt, Claudia Roll, Thomas Vraetz, Carsten Speckmann, Myriam Ricarda Lorenz, Klaus Schwarz, Jan Rohr, Stefan Feske, Stephan Ehl
No abstract text is available yet for this article.
June 17, 2017: Journal of Allergy and Clinical Immunology
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