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https://www.readbyqxmd.com/read/29334645/co-morbid-depressive-disorder-is-associated-with-better-neurocognitive-performance-in-first-episode-schizophrenia-spectrum
#1
Sarah E Herniman, Sue M Cotton, Eóin Killackey, Robert Hester, Kelly A Allott
BACKGROUND: Both major depressive disorder (MDD) and first episode schizophrenia spectrum (FES) are associated with significant neurocognitive deficits. However, it remains unclear whether the neurocognitive deficits in individuals with FES are more severe if there is comorbid depressive disorder. The aim of this study was to compare the neurocognitive profiles between those with and without full-threshold depressive disorder in FES. METHOD: This study involved secondary analysis of baseline data from a randomized controlled trial of vocational intervention for young people with first-episode psychosis (N = 82; age range: 15-25 years)...
January 3, 2018: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29334628/production-and-characterization-of-human-induced-pluripotent-stem-cells-ipscs-from-joubert-syndrome-cssi001-a-2850
#2
Jessica Rosati, Filomena Altieri, Silvia Tardivo, Elisa Maria Turco, Marina Goldoni, Iolanda Spasari, Daniela Ferrari, Laura Bernardini, Giuseppe Lamorte, Enza Maria Valente, Angelo Luigi Vescovi
Joubert Syndrome (JS) is a rare autosomal recessive or X-linked condition characterized by a peculiar cerebellar malformation, known as the molar tooth sign (MTS), associated with other neurological phenotypes and multiorgan involvement. JS is a ciliopathy, a spectrum of disorders whose causative genes encode proteins involved in the primary cilium apparatus. In order to elucidate ciliopathy-associated molecular mechanisms, human induced pluripotent stem cells (hiPSCs) were derived from a patient affected by JS carrying a homozygous missense mutation in the AHI1 gene (p...
January 9, 2018: Stem Cell Research
https://www.readbyqxmd.com/read/29333915/gaze-avoidance-and-perseverative-language-in-fragile-x-syndrome-and-autism-spectrum-disorder-brief-report
#3
Laura Friedman, Audra Sterling, Andrea Barton-Hulsey
Gaze avoidance and perseverative language impact pragmatics in autism spectrum disorder (ASD) and fragile X syndrome (FXS). We examined these features during conversation samples in boys with ASD (n = 10) and boys with FXS and ASD (FXS+ASD; n = 10). Both groups had similar high rates of gaze avoidance and topic and conversation device perseverations, yet these features were not correlated with one another. Boys with FXS+ASD produced a higher proportion of single utterance perseverations. Results from this study highlight the need for future research to identify potential mechanisms influencing the presence of language perseverations and gaze avoidance...
January 15, 2018: Developmental Neurorehabilitation
https://www.readbyqxmd.com/read/29333670/pustular-psoriasis-and-related-pustular-skin-diseases
#4
REVIEW
H Bachelez
Patients with pustular psoriasis or related pustular diseases may have genetic abnormalities impairing the function of key players of the innate skin immune system. Recently, identification of these abnormalities has changed the paradigm of several of these diseases. These include generalized pustular psoriasis, palmoplantar pustular psoriasis and acrodermatitis continua of Hallopeau, and also drug-induced acute exanthematous generalized pustular eruption. Identified mutations in IL36RN, CARD14 and AP1S3 in different groups of patients lead to enhanced inflammatory cascade in several cellular subtypes including keratinocytes, and to the recruitment and activation of neutrophils and macrophages...
January 15, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/29333196/brief-report-reduced-anxiety-following-pivotal-response-treatment-in-young-children-with-autism-spectrum-disorder
#5
Jiedi Lei, Denis G Sukhodolsky, Sebiha M Abdullahi, Megan L Braconnier, Pamela Ventola
Up to 40% of children with Autism Spectrum Disorder (ASD) exhibit co-occurring anxiety symptoms. Despite recent success in mitigating anxiety symptoms in school-aged children with ASD (mean age >9 years) using adapted versions of Cognitive Behavioural Therapy, little is known about potential treatment outcomes for younger children. To address the gap in the literature, this open-label study evaluated change in anxiety following a 16-week open-label trial of Pivotal Response Treatment (PRT) in children with ASD aged 4-8 years...
November 2017: Research in Autism Spectrum Disorders
https://www.readbyqxmd.com/read/29333079/type-1-autoimmune-hepatitis-presenting-with-severe-autoimmune-neutropenia
#6
Petros Doumtsis, Theodora Oikonomou, Ioannis Goulis, Kaliopi Zachou, George Dalekos, Evangelos Cholongitas
Autoimmune hepatitis (AIH) is a progressive, chronic liver disease characterized by unresolving hepatocellular inflammation of autoimmune origin. The clinical spectrum may vary from asymptomatic presentation, to non-specific symptoms such as fatigue, arthralgias, nausea and abdominal pain, to acute severe liver disease. AIH is characterized by the presence of interface hepatitis and portal plasma cell infiltration on histological examination, hypergammaglobulinemia, and positive autoantibodies. AIH is associated with other autoimmune diseases and its course is often accompanied by various non-specific hematological disorders...
January 2018: Annals of Gastroenterology: Quarterly Publication of the Hellenic Society of Gastroenterology
https://www.readbyqxmd.com/read/29333061/critical-appraisal-of-rome-iv-criteria-hypersensitive-esophagus-does-belong-to-gastroesophageal-reflux-disease-spectrum
#7
REVIEW
Leonardo Frazzoni, Marzio Frazzoni, Nicola de Bortoli, Salvatore Tolone, Irene Martinucci, Lorenzo Fuccio, Vincenzo Savarino, Edoardo Savarino
The Rome IV Committee introduced a major change in the classification of functional gastrointestinal disorders, proposing a more restrictive definition of gastroesophageal reflux disease (GERD). It was suggested that hypersensitive esophagus (HE) may sit more firmly within the functional realm. It was suggested that GERD diagnosis should be based upon abnormal acid exposure time (AET) only, implying no advantage of impedance-pH over pH monitoring. Symptom association probability (SAP), symptom index (SI) and heartburn relief with proton pump inhibitor (PPI) therapy were regarded as unreliable, whereas a lack of response to PPI was considered as evidence of functional heartburn...
January 2018: Annals of Gastroenterology: Quarterly Publication of the Hellenic Society of Gastroenterology
https://www.readbyqxmd.com/read/29332605/antidepressant-use-during-pregnancy-and-risk-of-autism-spectrum-disorder-and-attention-deficit-hyperactivity-disorder-systematic-review-of-observational-studies-and-methodological-considerations
#8
Daniel R Morales, Jim Slattery, Stephen Evans, Xavier Kurz
BACKGROUND: Antidepressant exposure during pregnancy has been associated with an increased risk of autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) in several observational studies. We performed a systematic review of these studies to highlight the effect that important methodological limitations have on such analyses and to consider approaches to the conduct, reporting and interpretation of future studies. METHODS: A review of MEDLINE and EMBASE identified case-control, cohort and sibling studies assessing the risk of ASD and ADHD with antidepressant use during pregnancy...
January 15, 2018: BMC Medicine
https://www.readbyqxmd.com/read/29332399/endor-induced-epr-of-disordered-systems-application-to-x-irradiated-alanine
#9
Jevgenij Kusakovskij, Kwinten Maes, Freddy Callens, Henk Vrielinck
The electron paramagnetic resonance (EPR) spectra of radiation-induced radicals in organic solids are generally composed of multiple components that largely overlap due to their similar weak g anisotropy and a large number of hyperfine (HF) interactions. Such properties make these systems difficult to study using standard cw EPR spectroscopy even in single crystals. Electron-nuclear double resonance (ENDOR) spectroscopy is a powerful and widely used complementary technique. In particular, ENDOR-induced EPR (EIE) experiments are useful for separating the overlapping contributions...
January 14, 2018: Journal of Physical Chemistry. A
https://www.readbyqxmd.com/read/29332179/profiles-and-correlates-of-parent-child-agreement-on-social-anxiety-symptoms-in-youth-with-autism-spectrum-disorder
#10
Catherine A Burrows, Lauren V Usher, Emily M Becker-Haimes, Camilla M McMahon, Peter C Mundy, Amanda Jensen-Doss, Heather A Henderson
This study characterized patterns and correlates of parent-youth agreement on social anxiety in youth with and without autism spectrum disorder (ASD). Participants (279 verbally-fluent youth aged 8-16 years, NASD = 144, NTD = 135) completed the SASC-R. Youth with ASD exhibited higher social anxiety across informants. While TD youth endorsed higher anxiety than did parents, self- and parent-reports did not differ in youth with ASD. For children with ASD, higher parent-youth agreement was associated with lower lifetime ASD symptoms and higher adaptive skills...
January 13, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29332178/association-of-autism-with-maternal-infections-perinatal-and-other-risk-factors-a-case-control-study
#11
Dikran Richard Guisso, Fadi S Saadeh, Dahlia Saab, Joud El Deek, Sarah Chamseddine, Hadi Abou El Hassan, Ghidaa Majari, Rose-Mary Boustany
This case-control study explores the association between pregnancy/birth complications and other factors with Autism Spectrum Disorder (ASD) in Lebanese subjects aged 2-18 years. Researchers interviewed 136 ASD cases from the American University of Beirut Medical Center Special Kids Clinic, and 178 controls selected by systematic digit dialing in the Greater-Beirut area. Male gender (Adjusted Odds Ratio [95% CI]: 3.9 [2.2-7.0]); postpartum feeding difficulties (2.5 [1.2-5.4]); maternal infections/complications during pregnancy (2...
January 13, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29332143/conjunction-of-g-quadruplex-and-stem-loop-in-the-5-untranslated-region-of-mouse-hepatocyte-nuclear-factor-4-alpha1-mediates-strong-inhibition-of-protein-expression
#12
Shangdong Guo, Hong Lu
Hepatocyte nuclear factor 4-alpha (HNF4α) is a well-established master regulator of liver development and function. Restoration of HNF4α can treat multiple liver disorders and liver cancers. To date, HNF4α is still "undruggable" due to lack of known activating ligands. Thus, understanding the regulatory mechanism of HNF4α expression may help develop an alternative approach to modulate HNF4α protein levels. G-quadruplexes (G4) are non-canonical stable secondary structures discovered mostly in the promoters of oncogenes...
January 13, 2018: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/29332075/patient-evaluation-and-selection-for-movement-disorders-surgery-the-changing-spectrum-of-indications
#13
Steffen Paschen, Günther Deuschl
This report summarizes the state-of-the-art and controversies around patient selection for deep brain stimulation (DBS) for various conditions. Parkinson's disease (PD): several class I studies have shown superiority of DBS over best medical treatment for advanced PD with fluctuations and further inclusion criteria. One class I study suggests that PD patients with early motor complications might gain more quality of life if operated within 3 years after the onset of fluctuations. The subthalamic nucleus (STN) is still the standard target...
2018: Progress in Neurological Surgery
https://www.readbyqxmd.com/read/29331932/cnv-biology-in-neurodevelopmental-disorders
#14
REVIEW
Toru Takumi, Kota Tamada
Copy number variants (CNVs), characterized in recent years by cutting-edge technology, add complexity to our knowledge of the human genome. CNVs contribute not only to human diversity but also to different kinds of diseases including neurodevelopmental delay, autism spectrum disorder and neuropsychiatric diseases. Interestingly, many pathogenic CNVs are shared among these diseases. Studies suggest that pathophysiology of disease may not be simply attributed to a single driver gene within a CNV but also that multifactorial effects may be important...
January 10, 2018: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/29331800/nucleus-accumbens-mu-opioid-receptors-regulate-context-specific-social-preferences-in-the-juvenile-rat
#15
Caroline J W Smith, Kevin B Wilkins, Sara Li, Maxwell T Tulimieri, Alexa H Veenema
The μ opioid receptor (MOR) in the nucleus accumbens (NAc) is involved in assigning pleasurable, or hedonic value to rewarding stimuli. Importantly, the hedonic value of a given rewarding stimulus likely depends on an individual's current motivational state. Here, we examined the involvement of MORs in the motivation to interact with a novel or a familiar (cage mate) conspecific in juvenile rats. First, we demonstrated that the selective MOR antagonist CTAP administered into the NAc reduces social novelty preference of juvenile males, by decreasing the interaction time with the novel conspecific and increasing the interaction time with the cage mate...
December 30, 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/29331789/anticonvulsant-activities-of-%C3%AE-asaronol-e-3-hydroxyasarone-an-active-constituent-derived-from-%C3%AE-asarone
#16
Xirui He, Yajun Bai, Min Zeng, Zefeng Zhao, Qiang Zhang, Ning Xu, Fanggang Qin, Xiaoyang Wei, Meimei Zhao, Ni Wu, Zehua Li, Yajun Zhang, Tai-Ping Fan, Xiaohui Zheng
BACKGROUND: Epilepsy is one of chronic neurological disorders that affects 0.5-1.0% of the world's population during their lifetime. There is a still significant need to develop novel anticonvulsant drugs that possess superior efficacy, broad spectrum of activities and good safety profile. METHODS: α-Asaronol and two current antiseizure drugs (α-asarone and carbamazepine (CBZ)) were assessed by in vivo anticonvulsant screening with the three most employed standard animal seizure models, including maximal electroshock seizure (MES), subcutaneous injection-pentylenetetrazole (PTZ)-induced seizures and 3-mercaptopropionic acid (3-MP)-induced seizures in mice...
August 31, 2017: Pharmacological Reports: PR
https://www.readbyqxmd.com/read/29331536/chronic-inflammation-and-sarcopenia-a-regenerative-cell-therapy-perspective
#17
Jagadish K Chhetri, Philipe de Souto Barreto, Bertrand Fougère, Yves Rolland, Bruno Vellas, Matteo Cesari
Sarcopenia is characterized by reduced skeletal muscle mass and strength in older individuals. It is one of the leading cause of physical limitation in older adults, and associated with wide spectrum of adverse events including disability and mortality. The phenomenon of chronic-inflammation or inflamm-aging with aging is known to be a major contributor to myriad of geriatric conditions including sarcopenia. Recent advances in regenerative medicine, in particular cell therapy have opened up new possibilities to ameliorate broad range of inflammatory disorders...
January 10, 2018: Experimental Gerontology
https://www.readbyqxmd.com/read/29331354/specificity-in-etiology-of-subtypes-of-bipolar-disorder-evidence-from-a-swedish-population-based-family-study
#18
Jie Song, Ralf Kuja-Halkola, Arvid Sjölander, Sarah E Bergen, Henrik Larsson, Mikael Landén, Paul Lichtenstein
BACKGROUND: Uncertainty remains whether bipolar I disorder (BDI) and bipolar II disorder (BDII) differ etiologically. We used a population-based family sample to examine the etiological boundaries between BDI and BDII by assessing their familial aggregation/coaggregation and by assessing the coaggregation between them and schizophrenia, depression, attention-deficit/hyperactivity disorder, eating disorders, autism spectrum disorder, substance use disorders, anxiety disorders, and personality disorders...
November 20, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/29331315/ethnobotany-phytochemistry-and-pharmacology-of-arctotis-arctotoides-l-f-o-hoffm-a-review
#19
REVIEW
Md Moshfekus Saleh-E-In, Johannes Van Staden
ETHNOPHARMACOLOGICAL RELEVANCE: Arctotis arctotoides (Asteraceae) is part of the genus Arctotis. Arctotis is an African genus of approximately 70 species that occur widely in the African continent with diverse medicinal values. This plant is used for the treatment of indigestion and catarrh of the stomach, epilepsy, topical wounds and skin disorders among the ethnic groups in South Africa and reported to have a wide spectrum of pharmacological properties. AIM OF THE REVIEW: The aim of the present review is to appraise the botany, traditional uses, phytochemistry, pharmacological potential, analytical methods and safety issues of A...
January 10, 2018: Journal of Ethnopharmacology
https://www.readbyqxmd.com/read/29331171/the-genotypic-and-phenotypic-spectrum-of-mto1-deficiency
#20
James J O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, Michael Champion, Charu Deshpande, Ali Dursun, Riza K Ozgul, Peter Freisinger, Ian Garber, Tobias B Haack, Rita Horvath, Ivo Barić, Ralf A Husain, Leo A J Kluijtmans, Urania Kotzaeridou, Andrew A Morris, Colin J Ross, Saikat Santra, Jan Smeitink, Mark Tarnopolsky, Saskia B Wortmann, Johannes A Mayr, Michaela Brunner-Krainz, Holger Prokisch, Wyeth W Wasserman, Ron A Wevers, Udo F Engelke, Richard J Rodenburg, Teck Wah Ting, Robert McFarland, Robert W Taylor, Ramona Salvarinova, Clara D M van Karnebeek
BACKGROUND: Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders resulting from defects in oxidative phosphorylation. MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein expressed in high-energy demand tissues has been linked to human early-onset combined oxidative phosphorylation deficiency associated with hypertrophic cardiomyopathy, often referred to as combined oxidative phosphorylation deficiency-10 (COXPD10)...
January 2018: Molecular Genetics and Metabolism
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