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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/28635370/evaluation-of-the-comprehensive-palatability-of-japanese-sake-paired-with-dishes-by-multiple-regression-analysis-based-on-subdomains
#2
Ryo Nakamura, Kumiko Nakano, Hiroyasu Tamura, Masaki Mizunuma, Tohru Fushiki, Dai Hirata
Many factors contribute to palatability. In order to evaluate the palatability of Japanese alcohol sake paired with certain dishes by integrating multiple factors, here we applied an evaluation method previously reported for palatability of cheese by multiple regression analysis based on 3 subdomain factors (rewarding, cultural, and informational). We asked 94 Japanese participants/subjects to evaluate the palatability of sake (1st evaluation/E1 for the first cup, 2nd/E2 and 3rd/E3 for the palatability with aftertaste/afterglow of certain dishes) and to respond to a questionnaire related to 3 subdomains...
June 21, 2017: Bioscience, Biotechnology, and Biochemistry
https://www.readbyqxmd.com/read/28635184/design-synthesis-and-biological-evaluation-of-isothiosemicarbazones-with-antimycobacterial-activity
#3
Eva Novotná, Karel Waisser, Jiří Kuneš, Karel Palát, Lenka Skálová, Barbora Szotáková, Vladimír Buchta, Jiřina Stolaříková, Vít Ulmann, Marcela Pávová, Jan Weber, Jitka Komrsková, Pavlína Hašková, Ivan Vokřál, Vladimír Wsól
A series of benzaldehyde and salicylaldehyde-S-benzylisothiosemicarbazones was synthesized and tested against 12 different strains of mycobacteria, Gram-positive and Gram-negative bacteria, and the significant selectivity toward mycobacteria was proved. Twenty-eight derivatives were evaluated for the inhibition of isocitrate lyase, which is a key enzyme of the glyoxylate cycle necessary for latent tuberculosis infection, and their iron-chelating properties were investigated. Two derivatives, 5-bromosalicylaldehyde-S-(4-fluorobenzyl)-isothiosemicarbazone and salicylaldehyde-S-(4-bromobenzyl)-isothiosemicarbazone, influenced the isocitrate lyase activity and caused a better inhibition at 10 μmol/L than 3-nitropropionic acid, a standard inhibitor...
June 21, 2017: Archiv der Pharmazie
https://www.readbyqxmd.com/read/28632456/effect-of-carbon-dioxide-laser-on-increasing-vestibular-depth-in-cleft-lip-and-palate-patients
#4
Sogra Yassaei, Hossein Aghili, Alireza Navab Azam, Mahjobeh Gholdani Moghadam, Isa Safari
BACKGROUND: Shallow upper buccal sulcus deformity in cleft lip and palate patients is one of the common secondary deformities after primary cleft lip and palate repair; this deformity may prevent or complicate orthodontic and prosthodontic procedures causing aesthetic and functional problems. A number of methods are described to increase the anterior maxillary sulcus in these patients. PURPOSE: This study assessed the use of a carbon dioxide laser (CO2) to increase the sulcus depth...
June 20, 2017: Photomedicine and Laser Surgery
https://www.readbyqxmd.com/read/28631689/-objective-tympanophonia-caused-by-myoclonus-of-the-auricular-muscles
#5
N V Boiko
The objective of the present literature review was to systematize the available data on the etiology, pathogenesis, clinical features, diagnostics, and treatment of muscular tympanophonia. The commonest source of muscular tympanophonia is the tremor (myoclonus) of the soft palate or the middle ear; sometimes this condition can be a consequence of myoclonus of the external ear muscles or head muscles. Pharmacotherapy of muscular tympanophonia does not invariably result in the favourable outcome. The author describes a rare observation of objective tympanophonia attributable to myoclonus of the auricular muscle...
2017: Vestnik Otorinolaringologii
https://www.readbyqxmd.com/read/28630790/rehabilitation-of-eyelid-malpositions-secondary-to-facial-palsy
#6
Şeyda Karadeniz Uğurlu, Mustafa Karakaş
OBJECTIVES: To evaluate patient satisfaction and outcomes of surgical treatment of eyelid malpositions secondary to facial palsy. MATERIALS AND METHODS: Consecutive patients with facial palsy who underwent surgical treatment by the same surgeon at İzmir Katip Çelebi University Atatürk Training and Research Hospital between Jan 2007 and Dec 2012 were included in the study. Ophthalmic examination findings, surgical approaches, and their outcomes were evaluated...
June 2017: Turkish Journal of Ophthalmology
https://www.readbyqxmd.com/read/28630700/retorting-conditions-affect-palatability-and-physical-characteristics-of-canned-cat-food
#7
Esther A Hagen-Plantinga, Denmark F Orlanes, Guido Bosch, Wouter H Hendriks, Antonius F B van der Poel
The effects of different temperature and time conditions during retorting of canned cat food on physicochemical characteristics and palatability were examined. For this purpose, lacquer cans containing an unprocessed loaf-type commercial cat food were heated in a pressurised retorting system at three specified temperature-time profiles (113°C/232 min, 120°C/103 min and 127°C/60 min) to equal a similar lethality (F0 value = 30). Physicochemical properties (viscosity, texture, particle size, pH) were determined, and a 10 d three-bowl palatability test was performed with ten European shorthair cats...
2017: Journal of Nutritional Science
https://www.readbyqxmd.com/read/28629180/bioavailability-of-dietary-omega-3-fatty-acids-added-to-a-variety-of-sausages-in-healthy-individuals
#8
Anton Köhler, Johanna Heinrich, Clemens von Schacky
A low Omega-3 Index (eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) in erythrocytes) is associated with cardiac, cerebral, and other health issues. Intake of EPA and DHA, but not of alpha-linolenic acid (ALA), increases the Omega-3 Index. We investigated bioavailability, safety, palatability and tolerability of EPA and DHA in a novel source: a variety of sausages. We screened 96 healthy volunteers, and recruited 44 with an Omega-3 Index <5%. Participants were randomly assigned to receive a variety of sausages enriched with approximately 250 mg EPA and DHA per 80 g (n = 22) daily for 8 weeks, or matching placebo sausages (n = 22)...
June 19, 2017: Nutrients
https://www.readbyqxmd.com/read/28623913/aggressive-natural-killer-cell-leukemia-or-extranodal-nk-t-cell-lymphoma-a-case-with-nasal-involvement
#9
Xiaoke Jin, Youhai Xu, Jun Zhang, Guangxi Li, Dongping Huang, Yuqiong Yang, Hesheng He
BACKGROUND: Aggressive natural killer cell leukemia/lymphoma (ANKL) is a rare and highly aggressive NK cell neoplasm with a short clinical course and poor prognosis and is often misdiagnosed and confused with NK/T cell lymphoma (NKTL), which has a very different prognosis. Here, we present a case with nasal and bone marrow involvement, provide a literature review and make a differential diagnosis. CASE PRESENTATION: A 41-year-old male presented nasal congestion pharyngalgia, palatal perforation, high fever and multiorgan dysfunction...
June 17, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/28623555/goldenhar-syndrome-current-perspectives
#10
REVIEW
Katarzyna Bogusiak, Aleksandra Puch, Piotr Arkuszewski
BACKGROUND: Progress in medical branches that has taken place since the first child with Goldenhare syndrome (GS) had been described in 1952 by Maurice Goldenhar, facilitated better understanding of this congenital defect. It also gave new perspectives and the opportunity to achieve satisfactory treatment results, mainly due to development of surgical techniques. DATA SOURCES: Based on the literature and own experience, we discussed the phenotype of presentation of GS, ethiopathogenesis, genetic counselling and treatment with particular emphasis on surgery correction of hemifacial microsomia...
June 15, 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28622993/polycyclic-aromatic-hydrocarbons-pahs-in-traditionally-harvested-bivalves-in-northern-british-columbia-canada
#11
Kim-Ly Thompson, Chris R Picard, Hing Man Chan
Butter clams, blue mussels, and Nuttall's cockle are important traditional food of the Gitga'at First Nation in Canada. Samples were collected and analyzed for polycyclic aromatic hydrocarbon (PAH) from the Gitga'at harvest sites from 2006 to 2015 to: 1) establish baseline conditions; 2) determine the likely source; 3) understand species specific response to spills; and 4) evaluate health risk associated with consumption. Baseline lipid normalized-total PAH in mussels was 2.36 (±2.86, 95%CI) μg/g in mussels, 3...
June 13, 2017: Marine Pollution Bulletin
https://www.readbyqxmd.com/read/28622611/de-novo-transcriptome-sequencing-and-comparative-analysis-to-discover-genes-involved-in-ovarian-maturity-in-strongylocentrotus-nudus
#12
Zhiying Jia, Qiai Wang, Kaikai Wu, Zhenlin Wei, Zunchun Zhou, Xiaolin Liu
Strongylocentrotus nudus is an edible sea urchin, mainly harvested in China. Correlation studies indicated that S. nudus with larger diameter have a prolonged marketing time and better palatability owing to their precocious gonads and extended maturation process. However, the molecular mechanism underlying this phenomenon is still unknown. Here, transcriptome sequencing was applied to study the ovaries of adult S. nudus with different shell diameters to explore the possible mechanism. In this study, four independent cDNA libraries were constructed, including two from the big size urchins and two from the small ones using a HiSeq™2500 platform...
May 30, 2017: Comparative Biochemistry and Physiology. Part D, Genomics & Proteomics
https://www.readbyqxmd.com/read/28621286/endodontic-management-of-dilacerated-maxillary-central-incisor-fused-to-a-supernumerary-tooth-using-cone-beam-computed-tomography-an-unusual-clinical-presentation
#13
Thilla S Vinothkumar, Deivanayagam Kandaswamy, Ganesh Arathi, Sathishkumar Ramkumar, Gnanasekaran Felsypremila
AIM: The purpose of this report is to present a case of endodontic management of a dilacerated maxillary central incisor fused to supernumerary tooth unusually appearing as a labial tubercle using cone beam computed tomography (CBCT) as a diagnostic aid. BACKGROUND: Anterior teeth are commonly encountered with aberrant anatomical variations in the crown, number of roots, and root canals. Fusion is an infrequent developmental abnormality in shape of the tooth caused by the union of two adjacent tooth germs...
June 1, 2017: Journal of Contemporary Dental Practice
https://www.readbyqxmd.com/read/28621276/association-of-palatal-rugae-pattern-in-gender-identification-an-exploratory-study
#14
Nitin Gautam, Suneel G Patil, R Gopi Krishna, Hemalatha Agastya, Lubna Mushtaq, K Vijay Kumar
AIM: The present study's aim was to assess the pattern of palatine ridges/rugae to identify gender. MATERIALS AND METHODS: This study consists of a total of 50 participants (25 males and 25 females). Participants of the age range of 20 to 50 years were selected from the outpatient department. According to the shape and size of the patient's arches, maxillary impression trays were selected using alginate, and casts were poured subsequently. With the help of a sharp graphite pencil, the palatine ridges were delineated to make it prominent, and on either side of the midline, the number of rugae was counted and the length measured...
June 1, 2017: Journal of Contemporary Dental Practice
https://www.readbyqxmd.com/read/28621267/site-specific-oral-cancers-are-different-biological-entities
#15
Sachin C Sarode, Gargi Sarode, Shankargouda Patil
One of the imperative features of the oral cavity is the presence of different areas, which are characterized by unique sets of tissue organization. These regions are divided into lining mucosa (buccal mucosa, labial mucosa, alveolar mucosa, mucosa lining the ventral surface of the tongue, floor of the mouth, and soft palate) and masticatory mucosa (hard palate, attached gingiva, and dorsal surface of the tongue).(1).
June 1, 2017: Journal of Contemporary Dental Practice
https://www.readbyqxmd.com/read/28621030/plugging-the-patient-evidence-gap-what-patients-with-swallowing-disorders-post-stroke-say-about-thickened-liquids
#16
Arlene McCurtin, Chiara Healy, Linda Kelly, Fiona Murphy, Jean Ryan, Joanne Walsh
BACKGROUND: Oropharyngeal dysphagia post-stroke is well known, with its presence increasing the risk of poor outcomes in particular aspiration and aspiration pneumonia. Management to minimize the risk of aspiration and improve swallow safety post-stroke includes the treatment of thickened liquids (TL), an established bolus modification intervention. Despite widespread use, there is a lack of robust empirical evidence and minimal patient evidence as to the experience and acceptability of using thickeners by people who experience dysphagia after a stroke...
June 16, 2017: International Journal of Language & Communication Disorders
https://www.readbyqxmd.com/read/28620637/evaluation-of-the-effects-of-three-plant-species-myrtus-communis-l-camellia-sinensis-l-zataria-multiflora-boiss-on-the-healing-process-of-intraoral-ulcers-in-rats
#17
Maryam Alsadat Hashemipour, Sodabeh Lotfi, Molok Torabi, Fariba Sharifi, Mehdi Ansari, Amirreza Ghassemi, Saied Sheikhshoaie
STATEMENT OF THE PROBLEM: Use of traditional medicine to relieve human sufferings has a very long history. The effects of these plants in wound curing and subsequently making the best mucosa patch for treatment of oral ulcers is still under investigation. PURPOSE: The main goal of present research work is to assess the efficacy of Myrtus communis L., Camellia sinensis L. and Zataria multiflora Boiss. on oral ulcer recovery process in rats. MATERIALS AND METHOD: In this study, 60 healthy adult male rats in 5 groups were investigated...
June 2017: Journal of Dentistry
https://www.readbyqxmd.com/read/28618835/effect-of-psychosocial-factors-on-eating-behaviors-and-bmi-among-african-american-women
#18
Stephanie Pickett, Thomas P McCoy
Psychosocial stress and negative emotions have been associated with the consumption of highly palatable foods and excess weight. Few studies have examined these variable relationships among young African American women. The purpose of this cross-sectional study was to examine the relationship of perceived stress, depressive symptoms, eating behaviors, and body mass index (BMI) among 191 African American women who were 18 to 40 years old. Multivariate analysis indicated that depressive symptoms had a greater impact on highly palatable eating behaviors compared with perceived stress...
June 1, 2017: Clinical Nursing Research
https://www.readbyqxmd.com/read/28618655/eugenia-uniflora-fruit-red-type-standardized-extract-a-potential-pharmacological-tool-to-diet-induced-metabolic-syndrome-damage-management
#19
Pathise Souto Oliveira, Vitor Clasen Chaves, Natália Pontes Bona, Mayara Sandrielly Pereira Soares, Juliane de Souza Cardoso, Flávia Aleixo Vasconcellos, Rejane Giacomelli Tavares, Marcia Vizzotto, Luísa Mariano Cerqueira da Silva, Fabiane Borelli Grecco, Giovana Duzzo Gamaro, Roselia Maria Spanevello, Claiton Leoneti Lencina, Flávio Henrique Reginatto, Francieli Moro Stefanello
The aim of this study was to investigate the effect of Eugenia uniflora fruit (red type) extract on metabolic status, as well as on neurochemical and behavioral parameters in an animal model of metabolic syndrome induced by a highly palatable diet (HPD). Rats were treated for 150days and divided into 4 experimental groups: standard chow (SC) and water orally, SC and E. uniflora extract (200mg/kg daily, p.o), HPD and water orally, HPD and extract. Our data showed that HPD caused glucose intolerance, increased visceral fat, weight gain, as well as serum glucose, triacylglycerol, total cholesterol and LDL cholesterol; however, E...
June 10, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28618344/developmental-mechanism-of-muscle-tendon-bone-complex-in-the-fetal-soft-palate
#20
Michiyuki Nara, Kei Kitamura, Masahito Yamamoto, Ryotaro Nagakura, Keisuke Mitomo, Satoru Matsunaga, Shinichi Abe
OBJECTIVE: This study was performed to investigate how the palatine aponeurosis, medial pterygoid process (MPP) of the sphenoid bone, and tensor veli palatini (TVP) muscle form the pulley: muscle-tendon-bone complex. DESIGN: Mice at embryonic day (ED) 14-17 were used as sample in this study. Azan staining was performed to observe the morphology, and immunohistochemical staining of desmin was performed to closely observe the development of the myotendinous junction...
June 6, 2017: Archives of Oral Biology
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