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https://www.readbyqxmd.com/read/28334875/white-matter-changes-in-paediatric-multiple-sclerosis-and-monophasic-demyelinating-disorders
#1
Giulia Longoni, Robert A Brown, Parya MomayyezSiahkal, Colm Elliott, Sridar Narayanan, Amit Bar-Or, Ruth Ann Marrie, E Ann Yeh, Massimo Filippi, Brenda Banwell, Douglas L Arnold
Most children who experience an acquired demyelinating syndrome of the central nervous system will have a monophasic disease course, with no further clinical or radiological symptoms. A subset will be diagnosed with multiple sclerosis, a life-long disorder. Using linear mixed effects models we examined longitudinal diffusion properties of normal-appearing white matter in 505 serial scans of 132 paediatric participants with acquired demyelinating syndromes followed for a median of 4.4 years, many from first clinical presentation, and 106 scans of 80 healthy paediatric participants...
March 14, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28334861/defective-signaling-through-plexin-a1-compromises-the-development-of-the-peripheral-olfactory-system-and-neuroendocrine-reproductive-axis-in-mice
#2
Séverine Marcos, Carine Monnier, Xavier Rovira Algans, Corinne Fouveaut, Nelly Pitteloud, Fabrice Ango, Catherine Dodé, Jean-Pierre Hardelin
The olfacto-genital syndrome (Kallmann syndrome) associates congenital hypogonadism due to gonadotropin-releasing hormone (GnRH) deficiency and anosmia. This is a genetically heterogeneous developmental disease with various modes of transmission, including oligogenic inheritance. Previous reports have involved defective cell signaling by semaphorin-3A in the disease pathogenesis. Here, we report that the embryonic phenotype of Plxna1-/- mutant mice lacking plexin-A1 (a major receptor of class 3 semaphorins), though not fully penetrant, resembles that of Kallmann syndrome fetuses...
March 2, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334749/ctg-repeat-targeting-oligonucleotides-for-down-regulating-huntingtin-expression
#3
Eman M Zaghloul, Olof Gissberg, Pedro M D Moreno, Lee Siggens, Mattias Hällbrink, Anna S Jørgensen, Karl Ekwall, Rula Zain, Jesper Wengel, Karin E Lundin, C I Edvard Smith
Huntington's disease (HD) is a fatal, neurodegenerative disorder in which patients suffer from mobility, psychological and cognitive impairments. Existing therapeutics are only symptomatic and do not significantly alter the disease progression or increase life expectancy. HD is caused by expansion of the CAG trinucleotide repeat region in exon 1 of the Huntingtin gene (HTT), leading to the formation of mutant HTT transcripts (muHTT). The toxic gain-of-function of muHTT protein is a major cause of the disease...
February 17, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28334730/examining-the-common-aetiology-of-serous-ovarian-cancers-and-basal-like-breast-cancers-using-double-primaries
#4
Colin B Begg, Megan S Rice, Emily C Zabor, Shelley S Tworoger
BACKGROUND: The somatic molecular profiles of basal-like breast cancers and high-grade serous ovarian cancers share many similarities, leading to the hypothesis that they have similar aetiologies, in which case they should occur together in the same patient more often than expected. METHODS: We identified 545 women with double independent primary cancers of the breast and ovary reported to the California Cancer Registry from 1999 to 2013 and examined the coincidence of subtype combinations...
March 23, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28334154/ethical-issues-of-crispr-technology-and-gene-editing-through-the-lens-of-solidarity
#5
John J Mulvihill, Benjamin Capps, Yann Joly, Tamra Lysaght, Hub A E Zwart, Ruth Chadwick
Background: The avalanche of commentaries on CRISPR-Cas9 technology, a bacterial immune system modified to recognize any short DNA sequence, cut it out, and insert a new one, has rekindled hopes for gene therapy and other applications and raised criticisms of engineering genes in future generations. Sources of data: This discussion draws on articles that emphasize ethics, identified partly through PubMed and Google, 2014-2016. Areas of agreement: CRISPR-Cas9 has taken the pace and prospects for genetic discovery and applications to a high level, stoking anticipation for somatic gene engineering to help patients...
February 23, 2017: British Medical Bulletin
https://www.readbyqxmd.com/read/28334078/relationships-between-morphologic-and-functional-patterns-in-the-polymicrogyric-cortex
#6
Matteo Lenge, Carmen Barba, Domenico Montanaro, Gayane Aghakhanyan, Francesca Frijia, Renzo Guerrini
Polymicrogyria is a malformation of cortical folding and layering underlying different cognitive and neurological manifestations. The polymicrogyric cortex has heterogeneous morphofunctional patterns, qualitatively described at magnetic resonance imaging (MRI) by variable severity gradients and functional activations. We investigated the link between abnormal cortical folding and cortical function in order to improve surgical planning for patients with polymicrogyria and intractable epilepsy. We performed structural and functional MRI on 14 patients with perisylvian polymicrogyria and adopted surface-based methods to detect alterations of cortical thickness (CT) and local gyrification index (LGI) compared with normal cortex (30 age-matched subjects)...
February 18, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28333952/adjuvant-treatment-with-the-bacterial-lysate-om-85-improves-management-of-atopic-dermatitis-a-randomized-study
#7
Christine Bodemer, Gerard Guillet, Frederic Cambazard, Franck Boralevi, Stefania Ballarini, Christian Milliet, Paola Bertuccio, Carlo La Vecchia, Jean-François Bach, Yves de Prost
BACKGROUND: Environmental factors play a major role on atopic dermatitis (AD) which shows a constant rise in prevalence in western countries over the last decades. The Hygiene Hypothesis suggesting an inverse relationship between incidence of infections and the increase in atopic diseases in these countries, is one of the working hypothesis proposed to explain this trend. OBJECTIVE: This study tested the efficacy and safety of oral administration of the bacterial lysate OM-85 (Broncho-Vaxom®, Broncho-Munal®, Ommunal®, Paxoral®, Vaxoral®), in the treatment of established AD in children...
2017: PloS One
https://www.readbyqxmd.com/read/28333918/21-gene-recurrence-score-testing-among-medicare-beneficiaries-with-breast-cancer-in-2010-2013
#8
Julie A Lynch, Brygida Berse, Nicole Coomer, John Kautter
PURPOSE: We evaluated national patient-level utilization of the 21-gene recurrence score (21-gene RS) test among Medicare beneficiaries with breast cancer. We analyzed clinical, demographic, and regional factors that predict testing. METHODS: Using 2010-2013 Medicare claims, we conducted a retrospective study of breast cancer patients. The outcome variable was whether the patient underwent testing. Independent variables expected to predict testing were age, gender, race, Medicaid status, clinical characteristics, and hospital referral region (HRR)...
March 23, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28333906/-phonosurgery-treatment-options-in-male-to-female-and-female-to-male-transsexuals
#9
Bożena Kosztyła-Hojna, Greta Berger, Vitaly Gryniewicz, Eugeniusz Tarasów
The voice is an important part of human identity. The voice is susceptible to impact of hormons mainly sexual hormons. The larynx is one of secondary sex characacteristics. Disorders of voice pose serious obstacle to full social integration in male to female and female to male transsexuals. The causes of transsexuality are still a matter of considerable debate. Now it is considered that, big nucleus suprachiasmaticus in the hypothalamus may be a cause of transsexuality. The aim of phonosurgery in transsexual patients is to gain acceptable voice by the patients...
March 21, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/28333852/re-intervention-in-de-novo-vitreous-opacities-after-pars-plana-vitrectomy-in-familial-amyloidotic-polyneuropathy-ttr-val30metportuguese-patients
#10
Natália Novais Ferreira, David Afonso Cunha Dias, Rui Pedro Afonso Carvalho, Maria Teresa Pardal Monteiro Coelho
PURPOSE: To report management of de novo vitreous amyloid opacities after previous pars plana vitrectomy in familial amyloidotic polyneuropathy transthyretin Val30Met. METHODS: This work is a retrospective observational consecutive case series of five eyes of four patients. Demographic data, transthyretin mutation involved, age at the beginning of disease, duration of disease, treatment (liver transplant or tafamidis), time between vitrectomy and re-intervention, and ophthalmologic changes were evaluated...
March 22, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28333830/minimal-variation-in-anti-a-and-b-titers-among-healthy-volunteers-over-time-implications-for-the-use-of-out-of-group-blood-components
#11
Ulrik Sprogøe, Mark Yazer, Mads Hvidkjær Rasmussen, Berit Antonsen, Claus Bistrup, Kristian Assing
BACKGROUND: Using potentially out-of-group blood components, like low titer A plasma and O whole blood, in the resuscitation of trauma patients is becoming increasingly popular. However, very little is known whether the donors' anti-A and/or -B titers change over time and whether repeated titer measurements on the same donor are required to ensure that each donation produces a low titer product. METHODS: The anti-A and/or -B titers were measured on 56 healthy adult volunteers (47 blood donors; 9 blood center personnel) every three months for 12 consecutive months using an automated solid phase analyzer...
March 22, 2017: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/28333821/committee-opinion-no-693-counseling-about-genetic-testing-and-communication-of-genetic-test-results
#12
(no author information available yet)
Given the increasing availability and complexity of genetic testing, it is imperative that the practicing obstetrician-gynecologist or other health care provider has a firm comprehension of the benefits, limitations, and risks of offering a specific genetic test, as well as the importance of appropriate pretest and posttest counseling. The purpose of this Committee Opinion is to provide an outline of how obstetrician-gynecologists and other health care providers can best incorporate these tests into their current practices and provide appropriate pretest and posttest counseling to patients...
April 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28333813/committee-opinion-no-693-summary-counseling-about-genetic-testing-and-communication-of-genetic-test-results
#13
(no author information available yet)
Given the increasing availability and complexity of genetic testing, it is imperative that the practicing obstetrician-gynecologist or other health care provider has a firm comprehension of the benefits, limitations, and risks of offering a specific genetic test, as well as the importance of appropriate pretest and posttest counseling. The purpose of this Committee Opinion is to provide an outline of how obstetrician-gynecologists and other health care providers can best incorporate these tests into their current practices and provide appropriate pretest and posttest counseling to patients...
April 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28333551/effect-of-a-group-behavioural-management-program-on-emotional-regulation-of-food-choices-a-pilot-randomized-controlled-trial
#14
Danuta Southgate, Michelle Greiver, Greg Hubka, Kori Kostka, Rahim Moineddin, Marjan Moienedin, James Pencharz, Heather Bogetta, Claudia Mazariegos, Jo-Anne Guindon, Andrea Petroff
PURPOSE: In Ontario, group programs to increase mindfulness of food choices are provided in Family Health Teams (FHTs), but evaluation is limited. We targeted patients with chronic conditions that could benefit from intensified management and evaluated an existing program. METHODS: We included 3 FHTs. Patients were randomized to immediate participation in the intervention (n = 16) or to wait-list control (n = 14). Eligible participants were between 40 and 70 years old, living with diabetes and/or hypertension and had at least 2 of: elevated cholesterol (LDL >4 if hypertension or LDL >2 mmol/L if diabetes), blood sugar (A1c >7...
March 23, 2017: Canadian Journal of Dietetic Practice and Research
https://www.readbyqxmd.com/read/28333539/age-is-not-a-contraindication-for-cartilage-surgery-a-critical-analysis-of-standardized-outcomes-at-long-term-follow-up
#15
Giuseppe Filardo, Luca Andriolo, Andrea Sessa, Francesca Vannini, Alberto Ferruzzi, Maurilio Marcacci, Elizaveta Kon
BACKGROUND: Age is commonly accepted as a negative prognostic factor in cartilage surgery, and cutoff values of 30 to 40 years have been previously suggested as treatment indication. However, the lower outcome scores documented in older patients do not take in consideration the decreasing requirements of an aging joint. PURPOSE: To analyze the real effect of age in terms of recovery with respect to the functional level expected for different age categories of patients treated for cartilage lesions...
March 1, 2017: American Journal of Sports Medicine
https://www.readbyqxmd.com/read/28333359/cryolipolysis-for-nonsurgical-reduction-of-fat-in-the-lateral-chest-wall-post-mastectomy
#16
Jennifer L Harrington, Peter J Capizzi
Background: Many patients that have undergone mastectomy surgery are left with residual lateral fat under the arm. While the fat may be associated with pain and cause undesirable bulges in clothing and skin irritation, most post-mastectomy patients are not interested in additional surgery. Objectives: Cryolipolysis is a nonsurgical procedure for fat reduction. The procedure is typically performed for aesthetic improvement in the abdomen, thighs, and flanks, but cryolipolysis was explored in this study for reconstructive purposes...
March 15, 2017: Aesthetic Surgery Journal
https://www.readbyqxmd.com/read/28333220/implementation-of-an-integrated-biodimensional-method-of-breast-augmentation-with-anatomic-highly-cohesive-silicone-gel-implants-short-term-results-with-the-first-620-consecutive-cases
#17
Paolo Montemurro, Mouchammed Agko, Alessandro Quattrini Li, Stefano Avvedimento, Per Hedén
Background: The previously described Akademikliniken (AK) method is a comprehensive approach to breast augmentation with form stable implants that has been shown to afford favorable outcomes when applied by experienced surgeons. Objectives: To evaluate outcomes of a surgeon newly adopting this method at the beginning of his career. Methods: A retrospective review of patients undergoing dual plane subpectoral augmentation with Style 410 implants between April 2009 and December 2014 was undertaken...
February 20, 2017: Aesthetic Surgery Journal
https://www.readbyqxmd.com/read/28333192/susceptibilities-of-mdr-mycobacterium-tuberculosis-isolates-to-unconventional-drugs-compared-with-their-reported-pharmacokinetic-pharmacodynamic-parameters
#18
Joseph S Cavanaugh, Ruwen Jou, Mei-Hua Wu, Tracy Dalton, Ekaterina Kurbatova, Julia Ershova, J Peter Cegielski
Background: The second-line drugs recommended to treat drug-resistant TB are toxic, expensive and difficult to procure. Given increasing resistance, the need for additional anti-TB drugs has become more urgent. But new drugs take time to develop and are expensive. Some commercially available drugs have reported anti-mycobacterial activity but are not routinely used because supporting laboratory and clinical evidence is sparse. Methods: We analysed 217 MDR M. tuberculosis isolates including 153 initial isolates from unique patients and 64 isolates from follow-up specimens during the course of treatment...
February 20, 2017: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/28333025/high-progesterone-levels-in-the-beginning-of-icsi-antagonist-cycles-and-clinical-pregnancy-still-a-concern
#19
Tatiana R Panaino, Joyce B da Silva, Maria Augusta T de Lima, Paloma Lira, Patricia C Arêas, Ana Cristina A Mancebo, Marcelo M de Souza, Roberto A Antunes, Maria do Carmo B de Souza
OBJECTIVE: In controlled ovarian hyperstimulation (COH) using antagonist cycles, an incomplete luteolysis could happen after an inefficient previous luteolysis. Since antagonist cycles are frequent today, this study aims to access the impact of serum progesterone in the beginning and at the end of stimulation, and pregnancy outcomes. METHODS: single-center cohort study, 461 fresh embryo transfers in ICSI antagonist cycles. Serum progesterone levels was measured in the beginning of COH (P4i) and on hCG day (P4f) using threshold values of 1...
February 1, 2017: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/28332727/protective-bcl11a-and-hbs1l-myb-polymorphisms-in-a-cohort-of-102-congolese-patients-suffering-from-sickle-cell-anemia
#20
Tite Minga Mikobi, Prosper Tshilobo Lukusa, Michel Ntetani Aloni, Aimé Zola Lumaka, Didine Kinkodi Kaba, Koenraad Devriendt, Gert Matthijs, Jean Marie Mbuyi Muamba, Valérie Race
BACKGROUND: We aimed to investigate the distribution of selected BCL11A and HMIP polymorphisms (SNP's), and to assess the correlation with HPFH in a cohort of sickle cell patients. METHODS: A preliminary cross-sectional study was conducted in 102 patients. Group 1 was composed of patients with HPFH and Group 2 consisted of patients without HbF. We assessed 8 SNPs previously associated with HPFH in cohorts genetically close to the Congolese population. Observed frequencies were compared to expected frequencies...
March 23, 2017: Journal of Clinical Laboratory Analysis
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