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https://www.readbyqxmd.com/read/28723825/feasibility-of-conducting-autism-biomarker-research-in-the-clinical-setting
#1
Laura Sices, Katherine Pawlowski, Laura Farfel, Deirdre Phillips, Yamini Howe, David M Cochran, Roula Choueiri, Peter W Forbes, Stephanie J Brewster, Jean A Frazier, Ann Neumeyer, Carolyn Bridgemohan
OBJECTIVE: Recruitment and completion of research activities during regular clinical care has the potential to increase research participation in complex neurodevelopmental disorders. We evaluated the feasibility, and effect on clinical care, of conducting biomarker research within a subspecialty clinical visit for autism spectrum disorder (ASD). METHODS: Children, aged 5 to 10 years, were recruited by providers in ASD clinics at 5 institutions. Biomarkers collected were growth measurements, head circumference, neurologic and dysmorphology examinations, digit ratio (2D:4D) measurement, and platelet serotonin and urinary melatonin sulfate excretion levels...
July 14, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28723776/a-case-of-idiopathic-hypertrophic-pachymeningitis-presenting-with-chronic-headache-and-multiple-cranial-nerve-palsies-a-case-report
#2
Yuanyuan Huang, Jun Chen, Li Gui
RATIONALE: Idiopathic hypertrophic pachymeningitis (IHP) is a rare condition, characterized by a chronic fibrosing inflammatory process usually involving either the intracranial or spinal dura mater, but rarely both. Here, we report a rare case of IHP affecting both the intracranial and spinal dura mater. We also discussed the diagnosis, management, and outcome of IHP. PATIENT CONCERNS: We reviewed the case of a 60-year-old woman presenting with chronic headache, multiple cranial nerve palsies and gait disturbance...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28723759/determining-the-relationship-of-kinesiophobia-with-respiratory-functions-and-functional-capacity-in-ankylosing-spondylitis
#3
Göktuğ Er, Ender AngIn
Ankylosing spondylitis (AS) is a common inflammatory rheumatic disease that affects the axial skeleton, causes inflammatory lower back pain, and structural and functional disorders, which affect quality of life negatively.The purpose of this study is to investigate the effects of kinesiophobia in AS on pulmonary function tests (PFTs) and functional performance.Thirty-one individuals with AS (n = 19 male, n = 12 female) who were suitable on the basis of the Modified New York (MNY) criteria were included in the study...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28723697/the-history-and-future-of-ablative-neurosurgery-for-major-depressive-disorder
#4
Matthew Volpini, Peter Giacobbe, G Rees Cosgrove, Anthony Levitt, Andres M Lozano, Nir Lipsman
BACKGROUND: There is an urgent need to develop safe and effective treatments for patients with treatment-resistant depression (TRD). Several neurosurgical procedures have been developed to treat the dysfunctional brain circuits implicated in major depression. OBJECTIVES: This review describes the most common ablative procedures used to treat major depressive disorder: anterior cingulotomy, subcaudate tractotomy, limbic leucotomy, and anterior capsulotomy. The efficacy and safety of each are discussed and compared with other current and emerging modalities, including deep brain stimulation (DBS) and MR-guided focused ultrasound (MRgFUS)...
July 20, 2017: Stereotactic and Functional Neurosurgery
https://www.readbyqxmd.com/read/28723686/population-based-study-on-the-epidemiology-of-m%C3%A3-ni%C3%A3-re-s-disease
#5
Saskia G Bruderer, Daniel Bodmer, Nadja A Stohler, Susan S Jick, Christoph R Meier
BACKGROUND AND OBJECTIVE: Ménière's disease (MD) is a disorder of the inner ear typically showing recurrent acute episodes of vertigo, hearing loss, and tinnitus. Epidemiologic studies on MD are scarce. We assessed the incidence rates (IRs) of MD and describe the characteristics of MD cases, comparing them to control patients without recorded evidence of MD. STUDY DESIGN: We conducted a retrospective population-based follow-up study and a nested case-control analysis using data from the UK-based Clinical Practice Research Datalink...
July 20, 2017: Audiology & Neuro-otology
https://www.readbyqxmd.com/read/28723552/immunology-of-food-allergy
#6
REVIEW
Leticia Tordesillas, M Cecilia Berin, Hugh A Sampson
Many consider food allergy as the "second wave" of the allergy epidemic following the "first wave" of respiratory allergy, i.e., asthma and allergic rhinitis, plaguing westernized countries, with up to 8% of young children and 2%-3% of adults in the United States now affected by hypersensitivity reactions to various foods. In the past decade, there have been great strides in our understanding of the underlying immunopathogenesis of these disorders, which have led to improved diagnostic techniques, management strategies, and therapeutic approaches...
July 18, 2017: Immunity
https://www.readbyqxmd.com/read/28723388/region-specific-impairments-in-parvalbumin-interneurons-in-social-isolation-reared-mice
#7
Hiroshi Ueno, Shunsuke Suemitsu, Shinji Murakami, Naoya Kitamura, Kenta Wani, Motoi Okamoto, Yosuke Matsumoto, Takeshi Ishihara
Many neuropsychiatric disorders show localized dysfunction in specific cortical regions. The mechanisms underlying such region-specific vulnerabilities are unknown. Post-mortem analyses have demonstrated a selective reduction in the expression of parvalbumin (PV) in GABAergic interneurons in the frontal rather than the sensory cortex of patients with neuropsychiatric disorders such as schizophrenia, autism spectrum disorders, and bipolar disorders. PV neurons are surrounded by perineuronal nets (PNNs), and are protected from oxidative stress...
July 16, 2017: Neuroscience
https://www.readbyqxmd.com/read/28722801/primary-familial-brain-calcification-with-a-novel-slc20a2-mutation-analysis-of-pit-2-expression-and-localization
#8
Ilaria Taglia, Patrizia Formichi, Carla Battisti, Giulia Peppoloni, Melissa Barghigiani, Alessandra Tessa, Antonio Federico
Primary Familial Brain Calcification (PFBC) is an autosomal dominant rare disorder characterized by bilateral and symmetric brain calcifications and neuropsychiatric manifestations. Four genes have been linked to PFBC: SLC20A2, PDGFRB, PDGFB and XPR1. In this study, we report molecular and clinical data of a PFBC patient carrying a novel SLC20A2 mutation and we investigate the impact of the mutation on PiT-2 expression and function. Sanger sequencing of SLC20A2, PDGFRB, PDGFB, XPR1 led to the identification of a novel duplication of twelve nucleotides (c...
July 19, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28722753/fruit-quality-of-sweet-pepper-as-affected-by-foliar-ca-applications-to-mitigate-the-supply-of-saline-water-under-a-climate-change-scenario
#9
María Carmen Piñero, Margarita Pérez-Jiménez, Josefa López-Marín, Francisco M Del Amor
BACKGROUND: Sweet pepper fruit quality disorders have been related mainly to an unbalanced nutrient supply and non-optimal growth conditions. Increases in the atmospheric CO2 concentration ([CO2 ]) have been associated with a reduction of transpiration, which can affect calcium (Ca) uptake as it is linked closely to water uptake. We investigated whether foliar application of Ca can counterbalance the effects of saline water and elevated [CO2 ]. RESULTS: High CO2 favored generative growth instead of vegetative growth...
July 19, 2017: Journal of the Science of Food and Agriculture
https://www.readbyqxmd.com/read/28722670/follicular-metabolic-changes-and-effects-on-oocyte-quality-in-polycystic-ovary-syndrome-patients
#10
Yan Zhang, Lingyan Liu, Tai-Lang Yin, Jing Yang, Cheng-Liang Xiong
Polycystic ovary syndrome (PCOS) is a common complex and heterogeneous disorder, affecting up to 10% women at reproductive age. It causes three fourth of the ovulatory infertility and PCOS patients often give poor IVF quality. Although some metabolic profiles have been investigated in PCOS patient sera and urine, the follicular fluid, providing fruitful biochemical information about oocyte environment during development has been ignored. In this work, based on NMR metabolomics approach, metabolic profile of follicular fluid of PCOS patients has been explored and compared with healthy controls...
July 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/28722457/-diseases-affecting-the-scalp
#11
Dana Suchánková
The skin of the scalp differs from the skin on the other areas of the body because of a higher density of hair follicles and higher sebum production. These, together with the presence of hair, provide a suitable environment for superficial infections, infestations and inflammatory diseases. The good condition of the scalp has a significant impact on the patient's mental well-being and social interaction. The visibility of this part of the skin and the presence of hair itself restrict the range of possible therapeutic agents that can be used due to the complicated application and poor cosmetic outcome...
2017: Casopís Lékar̆ů C̆eských
https://www.readbyqxmd.com/read/28722455/-hidradenitis-suppurativa-symptoms-diagnostics-and-therapy
#12
Monika Arenbergerová, Robert Artur Dahmen, Petr Arenberger
Hidradenitis suppurativa is a chronic skin disorder characterized by recurrent inflammatory nodules, fistulas, abscesses, and scarring mainly in the intertriginous areas with terminal hair and apocrine glands. Hidradenitis suppurativa manifests usually after puberty, in the third life decade and persists for many years. The prevalence of the disease is estimated to be 0,5 % in the Czech Republic. Women are most often affected in the axillary and inguinal parts, while men in the perianal and gluteal areas. The exact pathogenesis is still unknown...
2017: Casopís Lékar̆ů C̆eských
https://www.readbyqxmd.com/read/28722453/-psoriasis-comorbidities
#13
Spyridon Gkalpakiotis
Psoriasis is a chronic inflammatory skin disease affecting 2-4 % of Central European population. Nowadays, we know that psoriasis is not limited to the skin but is connected with several comorbidities like, psoriatic arthritis (around 25 %), Crohn's disease, ulcerative colitis, Bechterev, non-alcoholic liver steatosis, psychiatric disorders and mainly diseases of the so called metabolic syndrome, like diabetes mellitus type 2, arterial hypertension or dyslipidemia. In the last years, new information is arising which connect psoriasis with sleep apnoe and chronic obstructive pulmonary disease...
2017: Casopís Lékar̆ů C̆eských
https://www.readbyqxmd.com/read/28722334/potential-emerging-treatment-in-vitiligo-using-er-yag-in-combination-with-5fu-and-clobetasol
#14
Fatemeh Mokhtari, Anis Bostakian, Zabihollah Shahmoradi, Tohid Jafari-Koshki, Fariba Iraji, Gita Faghihi, Sayed Mohsen Hosseini, Behzad Bafandeh
BACKGROUND: Vitiligo is a pigmentary disorder of skin affecting at least 1% of the world population of all races in both sexes. Its importance is mainly due to subsequent social and psychological problems rather than clinical complications. Various treatment choices are available for vitiligo; however, laser-based courses have shown to give more acceptable results. OBJECTIVE: The aim of this trial was to evaluate the efficacy of Er:YAG laser as a supplementary medicine to topical 5FU and clobetasol in vitiligo patients...
July 19, 2017: Journal of Cosmetic Dermatology
https://www.readbyqxmd.com/read/28722128/solar-insolation-in-springtime-influences-age-of-onset-of-bipolar-i-disorder
#15
M Bauer, T Glenn, M Alda, M A Aleksandrovich, O A Andreassen, E Angelopoulos, R Ardau, Y Ayhan, C Baethge, S R Bharathram, R Bauer, B T Baune, C Becerra-Palars, F Bellivier, R H Belmaker, M Berk, Y Bersudsky, Ş Bicakci, H Birabwa-Oketcho, T D Bjella, L Bossini, J Cabrera, E Y W Cheung, M Del Zompo, S Dodd, M Donix, B Etain, A Fagiolini, K N Fountoulakis, M A Frye, A Gonzalez-Pinto, J F Gottlieb, P Grof, H Harima, C Henry, E T Isometsä, S Janno, F Kapczinski, M Kardell, S Khaldi, S Kliwicki, B König, T L Kot, R Krogh, M Kunz, B Lafer, M Landén, E R Larsen, U Lewitzka, R W Licht, C Lopez-Jaramillo, G MacQueen, M Manchia, W Marsh, M Martinez-Cengotitabengoa, I Melle, F Meza-Urzúa, M Yee Ming, S Monteith, G Morken, E Mosca, R Munoz, S V Mythri, F Nacef, R K Nadella, F G Nery, R E Nielsen, C O'Donovan, A Omrani, Y Osher, H Østermark Sørensen, U Ouali, Y Pica Ruiz, M Pilhatsch, M Pinna, F D R da Ponte, D Quiroz, R Ramesar, N Rasgon, M S Reddy, A Reif, P Ritter, J K Rybakowski, K Sagduyu, Â M Scippa, E Severus, C Simhandl, D J Stein, S Strejilevich, M Subramaniam, A H Sulaiman, K Suominen, H Tagata, Y Tatebayashi, L Tondo, C Torrent, A E Vaaler, J Veeh, E Vieta, B Viswanath, M Yoldi-Negrete, M Zetin, Y Zgueb, P C Whybrow
OBJECTIVE: To confirm prior findings that the larger the maximum monthly increase in solar insolation in springtime, the younger the age of onset of bipolar disorder. METHOD: Data were collected from 5536 patients at 50 sites in 32 countries on six continents. Onset occurred at 456 locations in 57 countries. Variables included solar insolation, birth-cohort, family history, polarity of first episode and country physician density. RESULTS: There was a significant, inverse association between the maximum monthly increase in solar insolation at the onset location, and the age of onset...
July 19, 2017: Acta Psychiatrica Scandinavica
https://www.readbyqxmd.com/read/28722101/-gilles-de-la-tourette-syndrome-symptoms-causes-and-therapy
#16
Ewgeni Jakubovski, Kirsten R Müller-Vahl
Gilles de la Tourette syndrome is a chronic neuropsychiatric movement disease with combined motor tics and at least one vocal tic for a minimum period of 1 year. It typically begins in the childhood (under 18 years of age).Most of the patients with Tourette syndrome have comorbidities, which often impair their quality of life more than the tics themselves.There are reported abnormalities in the cortico-striato-thalamo-cortical regions as well as in the neurotransmission of dopamine and other neurotransmission systems...
June 2017: Psychotherapie, Psychosomatik, Medizinische Psychologie
https://www.readbyqxmd.com/read/28721821/current-perspectives-for-the-use-of-gonane-progesteronergic-drugs-in-the-treatment-of-central-hypoventilation-syndromes
#17
Camille Loiseau, Florence Cayetanot, Fanny Joubert, Anne-Sophie Perrin-Terrin, Philippe Cardot, Marie-Noëlle Fiamma, Alain Frugiere, Christian Straus, Laurence Bodineau
BACKGROUND: Central alveolar hypoventilation syndromes (CHS) encompass neurorespiratory diseases resulting from congenital or acquired neurological disorders. Hypercapnia, acidosis, and hypoxemia resulting from CHS negatively affect physiological functions and can be life-threatening. To date, the absence of pharmacological treatment implies that the patients must receive assisted ventilation throughout their lives. OBJECTIVE: To highlight the relevance of determining conditions in which using gonane synthetic progestins could be of potential clinical interest for the treatment of CHS...
July 19, 2017: Current Neuropharmacology
https://www.readbyqxmd.com/read/28721740/clinical-features-and-subjective-physiological-responses-to-emotional-stimuli-in-the-presence-of-emotion-dysregulation-in-attention-deficit-hyperactivity-disorder
#18
Candan Taskiran, Serkan Karaismailoglu, Halime Tuna Cak Esen, Zeynep Tuzun, Aysen Erdem, Zeynep Dicle Balkanci, Anil Barak Dolgun, Sadriye Ebru Cengel Kultur
INTRODUCTION: Emotion dysregulation (ED) has long been recognized in clinical descriptions of attention-deficit hyperactivity disorder (ADHD), but a renewed interest in ED has advanced research on the overlap between the two entities. Autonomic reactivity (AR) is a neurobiological correlate of emotion regulation; however, the association between ADHD and AR remains unclear. Our aim was to explore the clinical differences, AR, and subjective emotional responses to visual emotional stimuli in ADHD children with and without ED...
July 19, 2017: Journal of Clinical and Experimental Neuropsychology
https://www.readbyqxmd.com/read/28721681/genetic-characterization-and-disease-mechanism-of-retinitis-pigmentosa-current-scenario
#19
REVIEW
Muhammad Umar Ali, Muhammad Saif Ur Rahman, Jiang Cao, Ping Xi Yuan
Retinitis pigmentosa is a group of genetically transmitted disorders affecting 1 in 3000-8000 individual people worldwide ultimately affecting the quality of life. Retinitis pigmentosa is characterized as a heterogeneous genetic disorder which leads by progressive devolution of the retina leading to a progressive visual loss. It can occur in syndromic (with Usher syndrome and Bardet-Biedl syndrome) as well as non-syndromic nature. The mode of inheritance can be X-linked, autosomal dominant or autosomal recessive manner...
August 2017: 3 Biotech
https://www.readbyqxmd.com/read/28721577/characterization-of-motor-events-in-rem-sleep-behavior-disorder
#20
Paulo Bugalho, Tânia Lampreia, Rita Miguel, Marcelo Mendonça, André Caetano, Raquel Barbosa
We used video-polysomnography to characterize motor events (ME) in 14 Parkinson's disease (PD-RBD) and 18 idiopathic (iRBD) REM sleep behavior disorder cases. ME occurred predominantly in the upper limbs and were mostly simple, non-emotional, distal and focal. There were no significant differences in ME features between PD-RBD and iRBD groups. Our data suggests that RBD ME are mostly non violent. Similarity between PD-RBD and iRBD groups suggests that motor dysfunction does not affect ME features.
July 18, 2017: Journal of Neural Transmission
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