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Huiping Zhang, Joel Gelernter
BACKGROUND AND OBJECTIVES: Risk for alcohol use disorders (AUDs) is influenced by gene-environment interactions. Environmental factors can affect gene expression through epigenetic mechanisms such as DNA methylation. This review outlines the findings regarding the association of DNA methylation and AUDs. METHODS: We searched PubMed (by April 2016) and identified 29 studies that examined the association of DNA methylation and AUDs. We also evaluated the methods used in these studies...
October 19, 2016: American Journal on Addictions
Susan E Luczak, Rubin Khoddam, Sheila Yu, Tamara L Wall, Anna Schwartz, Steve Sussman
BACKGROUND AND OBJECTIVES: We conducted a review of the prevalence and co-occurrence of 12 types of addictions in US ethnic/racial groups and discuss the implications of the results for genetic research on addictions. METHODS: We utilized MEDLINE and PsycINFO databases to review the literature on alcohol, tobacco, marijuana, illicit drugs, gambling, eating/food, internet, sex, love, exercise, work, and shopping. We present results for each addiction based on total US prevalence, prevalence within ethnic groups, and co-occurrence of addictions among ethnic groups when available...
October 19, 2016: American Journal on Addictions
K L Ostrow, A L Bergner, J Blakeley, D G Evans, R Ferner, J M Friedman, G J Harris, J T Jordan, B Korf, S Langmead, G Leschziner, V Mautner, V L Merker, L Papi, S R Plotkin, J M Slopis, M J Smith, A Stemmer-Rachamimov, K Yohay, A J Belzberg
Schwannomatosis is a tumor suppressor syndrome that causes multiple tumors along peripheral nerves. Formal diagnostic criteria were first published in 2005. Variability in clinical presentation and a relative lack of awareness of the syndrome have contributed to difficulty recognizing affected individuals and accurately describing the natural history of the disorder. Many critical questions such as the mutations underlying schwannomatosis, genotype-phenotype correlations, inheritance patterns, pathologic diagnosis of schwannomatosis-associated schwannomas, tumor burden in schwannomatosis, the incidence of malignancy, and the effectiveness of current, or new treatments remain unanswered...
October 19, 2016: American Journal of Medical Genetics. Part A
Donald B Sanders, Janice M Massey
OBJECTIVE: To determine if single-fiber EMG (SFEMG) jitter accurately reflects change in severity in myasthenia gravis (MG). METHODS: We reviewed jitter and outcome data from all MG patients in our clinic who had at least 2 jitter measurements in the extensor digitorum (ED) or frontalis muscle. RESULTS: Change in all parameters of jitter measured with SFEMG electrodes predicted clinical change with acceptable accuracy. Absolute and percentage change in mean MCD were equally accurate in predicting clinical change and were more accurate than change in the proportion of fiber pairs with blocking or normal jitter...
October 19, 2016: Muscle & Nerve
Suma Babu, Erik P Pioro, Jianbo Li, Yuebing Li
INTRODUCTION: We compared the yield of limb and thoracic paraspinal muscles for revealing lower motor neuron (LMN) dysfunction on electromyography (EMG) in amyotrophic lateral sclerosis (ALS). METHODS: A retrospective review of 354 patients with clinically definite or probable ALS was performed. Seventeen limb muscles and thoracic paraspinal muscles were evaluated for the presence of both active and chronic denervation. RESULTS: Distal limb muscles showed the highest electrodiagnostic sensitivities of LMN dysfunction in ALS regardless of onset region and diagnostic certainty at the time of diagnosis...
October 19, 2016: Muscle & Nerve
Massimo Del Fabbro, Stefano Corbella, Patrick Sequeira-Byron, Igor Tsesis, Eyal Rosen, Alessandra Lolato, Silvio Taschieri
BACKGROUND: When primary root canal therapy fails, periapical lesions can be retreated with or without surgery. Root canal retreatment is a non-surgical procedure that involves removal of root canal filling materials from the tooth, followed by cleaning, shaping and obturating of the canals. Root-end resection is a surgical procedure that involves exposure of the periapical lesion through an osteotomy, surgical removal of the lesion, removal of part of the root-end tip, disinfection and, commonly, retrograde sealing or filling of the apical portion of the remaining root canal...
October 19, 2016: Cochrane Database of Systematic Reviews
Sharon L I Wong, Maria B Sukkar
Secreted protein acidic and rich in cysteine (SPARC) is a matricellular protein which regulates interactions between cells and their surrounding extracellular matrix (ECM), and thus governs fundamental cellular functions such as cell adhesion, proliferation and differentiation. SPARC also regulates the expression and activity of numerous growth factors and matrix metalloproteinases essential for ECM degradation and turnover. Studies in SPARC-null mice have revealed a critical role for SPARC in tissue development, injury and repair, and in the regulation of the immune response...
October 19, 2016: British Journal of Pharmacology
Zhao Chenhui, Wei Yi
BACKGROUND: Despite great advances in treatment of Aneurysmal subarachnoid hemorrhage (aSAH), yet, a consensus as to the most optimal timing of surgery has not been reached. MATERIALS AND METHODS: PubMed and the Cochrane Library were searched for English-language studies published up to May 2015. Before conducting the meta-analysis, the studies were evaluated for publication bias and heterogeneity. Fixed and random effect models were used to estimate relative risks (RR) and the corresponding 95% confidence intervals (CIs)...
December 7, 2015: Turkish Neurosurgery
Fabiana Q Silva, Mehreen Adhi, Karen M Wai, Leann Olansky, M Cecilia Lansang, Rishi P Singh
BACKGROUND AND OBJECTIVE: The purpose of this study was to identify whether endocrinologists and primary care physicians (PCP) adequately screen for ophthalmic symptoms/signs within office visits and provide timely ophthalmology referrals in patients with diabetes. PATIENTS AND METHODS: Patients between the ages of 18 years and 80 years with diabetes who underwent an office visit with an endocrinologist or a PCP between January 1, 2014, and December 31, 2014, were identified...
October 1, 2016: Ophthalmic Surgery, Lasers & Imaging Retina
Yuji Itoh, Daniel Petkovsek, Peter K Kaiser, Rishi P Singh, Justis P Ehlers
BACKGROUND AND OBJECTIVE: To assess the relationship between spectral-domain optical coherence tomography (SD-OCT) features and functional outcomes for diabetic macular edema (DME) undergoing treatment with intravitreal bevacizumab (Avastin; Genentech, South San Francisco, CA). PATIENTS AND METHODS: Institutional review board-approved, retrospective, consecutive case series of eyes receiving intravitreal bevacizumab (1.25 mg) for DME. SD-OCT features were evaluated and correlated with functional response to anti-vascular endothelial growth factor (VEGF) therapy...
October 1, 2016: Ophthalmic Surgery, Lasers & Imaging Retina
Felipe P Andrade, Roberto Montoro, Renan Oliveira, Gabriela Loures, Luana Flessak, Roberta Gross, Camille Donnabella, Andrea Puchnick, Lisa Suzuki, Rodrigo Regacini
OBJECTIVES: 1) To verify clinical signs correlated with appropriate cranial computed tomography scan indications and changes in the therapeutic approach in pediatric minor head trauma scenarios. 2) To estimate the radiation exposure of computed tomography scans with low dose protocols in the context of trauma and the additional associated risk. METHODS: Investigators reviewed the medical records of all children with minor head trauma, which was defined as a Glasgow coma scale ≥13 at the time of admission to the emergency room, who underwent computed tomography scans during the years of 2013 and 2014...
October 1, 2016: Clinics
Nathan Elie Frenk, Fernando Sebastianes, Antonio Marcondes Lerario, Maria Candida Barisson Villares Fragoso, Berenice Bilharinho Mendonca, Marcos Roberto de Menezes
OBJECTIVES: To evaluate the safety and long-term efficacy of computed tomography-guided percutaneous ethanol ablation for benign primary and secondary hyperfunctioning adrenal disorders. METHOD: We retrospectively evaluated the long-term results of nine patients treated with computed tomography-guided percutaneous ethanol ablation: eight subjects who presented with primary adrenal disorders, such as pheochromocytoma, primary macronodular adrenal hyperplasia and aldosterone-producing adenoma, and one subject with Cushing disease refractory to conventional treatment...
October 1, 2016: Clinics
Deng-Wei Chou, Shu-Ling Wu, Kuo-Mou Chung, Shu-Chen Han, Bruno Man-Hon Cheung
OBJECTIVES: Septic pulmonary embolism is an uncommon but life-threatening disorder. However, data on patients with septic pulmonary embolism who require critical care have not been well reported. This study elucidated the clinicoradiological spectrum, causative pathogens and outcomes of septic pulmonary embolism in patients requiring critical care. METHODS: The electronic medical records of 20 patients with septic pulmonary embolism who required intensive care unit admission between January 2005 and December 2013 were reviewed...
October 1, 2016: Clinics
Ademar Francisco de Oliveira, Gêssyca Adryene de Menezes Silva, Débora Milenna Xavier Almeida
Amyotrophic lateral sclerosis is a progressive and fatal neurodegenerative disease characterized by the degeneration of motor neurons, which are the central nervous system cells that control voluntary muscle movements. The excessive salivation (sialorrhea) is present in approximately 50% of amyotrophic lateral sclerosis cases. Thus, some alternative therapeutic methods are sought, such as anticholinergic drugs and surgery. Recently the use of botulinum toxin applied at a midpoint of the salivary glands, often guided by ultrasound, have demonstrated positive results...
July 2016: Einstein
Tatiane Fernandes Farias, Karina da Silva Aguiar, Inajara Rotta, Klezia Morais da Silva Belletti, Juliane Carlotto
Objective: To implement a clinical pharmacy service focused on the comprehensive review of antineoplastic drugs used in therapy of hematological diseases. Methods: An interventional study was conducted in a Brazilian tertiary teaching hospital in two different periods, with and without a clinical pharmacy service, respectively. This service consisted of an antineoplastic prescription validation (analysis of patients' characteristics, laboratory tests, compliance with the therapeutic protocol and with pharmacotechnical parameters)...
July 2016: Einstein
Marina Parca Cavelagna Teixeira, Tatiana Peloso Reis Queiroga, Maria Dos Anjos Mesquita
Objective: To determine the frequency and risk factors of small-for-gestational-age newborns in a high-risk maternity. Methods: This is an observational, cross-sectional, and case-control study, conducted in a public tertiary care maternity hospital. Data from 998 newborns and their mothers were collected through interviews and review of medical records and prenatal care cards. Some placentas underwent histopathological analysis. The variables of small-for-gestational-age and non-small-for-gestational-age newborns and of their mothers were statistically compared by means of Student's t test, Fisher's exact test, and odds ratio...
July 2016: Einstein
Hélio A G Teive, Adriana Moro, Walter O Arruda, Salmo Raskin, Gladys M G Teive, Norberto Dalabrida, Renato P Munhoz
The authors present a historical review of spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), the most common form of spinocerebellar ataxia in Brazil, and consider the high frequency of cases in families from Itajaí, a city on the coast of the state of Santa Catarina with a large population of Portuguese/Azorean descent.
October 2016: Arquivos de Neuro-psiquiatria
Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto, Flávio Moura Rezende, Acary Souza Bulle Oliveira
Motor neuron disease is one of the major groups of neurodegenerative diseases, mainly represented by amyotrophic lateral sclerosis. Despite wide genetic and biochemical data regarding its pathophysiological mechanisms, motor neuron disease develops under a complex network of mechanisms not restricted to the unique functions of the alpha motor neurons but which actually involve diverse functions of glial cell interaction. This review aims to expose some of the leading roles of glial cells in the physiological mechanisms of neuron-glial cell interactions and the mechanisms related to motor neuron survival linked to glial cell functions...
October 2016: Arquivos de Neuro-psiquiatria
Letícia Pereira de Brito Sampaio
The ketogenic diet (KD), a high-fat, low-carbohydrate, and adequate-protein diet is an established, effective nonpharmacologic treatment option for intractable childhood epilepsy. The KD was developed in 1921 and even though it has been increasingly used worldwide in the past decade, many neurologists are not familiar with this therapeutic approach. In the past few years, alternative and more flexible KD variants have been developed to make the treatment easier and more palatable while reducing side effects and making it available to larger group of refractory epilepsy patients...
October 2016: Arquivos de Neuro-psiquiatria
Juliana Calvet Kallenbach Aurenção, Claudia Cristina Ferreira Vasconcelos, Luiz Claudio Santos Thuler, Regina Maria Papais Alvarenga
Multiple sclerosis (MS) prevalence is higher in Caucasian (CA) populations, narrowing the analysis of the impact of Afro-descendant (AD) populations in disease outcomes. Even so, recent studies observed that AD patients have a more severe course. The main objective of this study is to confirm and discuss, through a systematic review, that being AD is a risk factor for disability accumulation and/or severe progression in patients with MS. A systematic review of published data in the last eleven years was performed, which evaluated clinical aspects and long term disability in patients with MS...
October 2016: Arquivos de Neuro-psiquiatria
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