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https://www.readbyqxmd.com/read/28101829/autism-spectrum-disorders%C3%A2-diagnosis-and-management
#1
REVIEW
Sharmila Banerjee Mukherjee
Autism Spectrum Disorder (ASD) is a neuro-developmental disorder commonly seen in children. It is characterized by age inappropriate, impaired social communication and the presence of stereotypic behavior. This disorder is hypothesized to result from cerebral dysfunction arising from a complex interaction between genetic, epigenetic and environmental factors. ASD should be suspected in children failing ASD specific screening tests, in the presence of red flags in social, language and/or play domains, in children with developmental or language delay, abnormal behavior, poor school performance or in those who are at high risk...
January 19, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28101356/a-case-report-of-primary-cutaneous-natural-killer-t-cell-lymphoma
#2
Chen Tian, Yong Yu, Yizhuo Zhang
Primary cutaneous extranodal natural killer/T-cell lymphoma, nasal type (ENKL-NT) is a relatively rare disease associated with aggressive tumor-cell behavior and poor prognosis. Progress in immunohistochemistry has improved the identification of ENKL-NT. The present case study reported on a 64-year-old female patient presenting with several red nodular lesions on the neck developed over four months. Cutaneous biopsy revealed these cells were positive for CD3, CD56, CD5, CD8 and negative for CD2, CD34, CD7, CD20 and Granzyme B...
December 2016: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28100861/-a-case-of-intracranial-localized-castleman-s-disease-mimicking-convexity-meningioma
#3
Keisuke Ozono, Takashi Fujimoto, Makoto Hirose, Ichiro Kawahara, Kazuyoshi Uchihashi
A 68-year-old man presented with abnormal behavior and Todd's paralysis on the right side after having taken a bath. Computed tomography and magnetic resonance imaging revealed a tumor mimicking convexity meningioma that had a perifocal edema, although its mass was not very large. The patient underwent surgery, and full recovery was achieved following a total removal of the lesion. Pathohistological examination demonstrated an intermediate type of Castleman's disease. The final diagnosis was intracranial localized Castleman's disease because the results of the full physical examination and laboratory analyses were normal...
January 2017: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/28100843/pathophysiology-and-molecular-basis-of-selected-metabolic-abnormalities-in-huntington-s-disease
#4
Jolanta Krzysztoń-Russjan
Huntington's disease (HD) is an incurable, devastating neurodegenerative disease with a known genetic background and autosomally dominant inheritance pattern. HTT gene mutation (mHTT) is associated with polymorphic fragment elongation above 35 repeats of the CAG triplet. The mHTT product is an altered protein with a poly-Q elongated fragment, with the highest expression determined in the central nervous system (CNS) and with differentiated expression outside the CNS. A drastic loss of striatal and deeper layers of the cerebral cortex neurons was determined in the CNS, but muscle and body weight mass loss with dysfunction of many organs was also observed...
December 30, 2016: Postȩpy Higieny i Medycyny Doświadczalnej
https://www.readbyqxmd.com/read/28100688/the-use-of-oxytocin-to-improve-feeding-and-social-skills-in-infants-with-prader-willi-syndrome
#5
Maïthé Tauber, Kader Boulanouar, Gwenaelle Diene, Sophie Çabal-Berthoumieu, Virginie Ehlinger, Pascale Fichaux-Bourin, Catherine Molinas, Sandy Faye, Marion Valette, Jeanne Pourrinet, Catie Cessans, Sylvie Viaux-Sauvelon, Céline Bascoul, Antoine Guedeney, Patric Delhanty, Vincent Geenen, Henri Martens, Françoise Muscatelli, David Cohen, Angèle Consoli, Pierre Payoux, Catherine Arnaud, Jean-Pierre Salles
BACKGROUND AND OBJECTIVES: Patients with Prader-Willi syndrome (PWS) display poor feeding and social skills as infants and fewer hypothalamic oxytocin (OXT)-producing neurons were documented in adults. Animal data demonstrated that early treatment with OXT restores sucking after birth. Our aim is to reproduce these data in infants with PWS. METHODS: We conducted a phase 2 escalating dose study of a short course (7 days) of intranasal OXT administration. We enrolled 18 infants with PWS under 6 months old (6 infants in each step) who received 4 IU of OXT either every other day, daily, or twice daily...
January 18, 2017: Pediatrics
https://www.readbyqxmd.com/read/28100459/clinical-and-pathological-characteristics-of-hiv-and-hhv8-negative-castleman-disease
#6
Li Yu, Meifeng Tu, Jorge Cortes, Zijun Y Xu-Monette, Roberto N Miranda, Jun Zhang, Robert Z Orlowski, Sattva Neelapu, Prajwal C Boddu, Mary A Akosile, Thomas S Uldrick, Robert Yarchoan, L Jeffrey Medeiros, Yong Li, David C Fajgenbaum, Ken H Young
Castleman disease (CD) comprises three poorly-understood lymphoproliferative variants that share several common histopathological features. Unicentric CD (UCD) is localized to a single region of lymph nodes. Multicentric CD (MCD) manifests with systemic inflammatory symptoms and organ dysfunction due to cytokine dysregulation, and involves multiple lymph node regions. Human herpes virus-8 causes MCD (HHV-8-associated MCD) in immunocompromised individuals, such as HIV infected patients. However, greater than 50% MCD cases are HIV and HHV-8 negative, defined as idiopathic (iMCD)...
January 18, 2017: Blood
https://www.readbyqxmd.com/read/28099256/diagnosis-of-chronic-pancreatitis-incorporating-endosonographic-features-demographics-and-behavioral-risk
#7
Linda S Lee, Ying P Tabak, Vivek Kadiyala, Xiaowu Sun, Shadeah Suleiman, Richard S Johannes, Peter A Banks, Darwin L Conwell
OBJECTIVES: Diagnosing chronic pancreatitis remains challenging. Endoscopic ultrasound (EUS) is utilized to evaluate pancreatic disease. Abnormal pancreas function test is considered the "nonhistologic" criterion standard for chronic pancreatitis. We derived a prediction model for abnormal endoscopic pancreatic function test (ePFT) by enriching EUS findings with patient demographic and pancreatitis behavioral risk characteristics. METHODS: Demographics, behavioral risk characteristics, EUS findings, and peak bicarbonate results were collected from patients evaluated for pancreatic disease...
January 18, 2017: Pancreas
https://www.readbyqxmd.com/read/28098937/sodium-selenate-treatment-improves-symptoms-and-seizure-susceptibility-in-a-malin-deficient-mouse-model-of-lafora-disease
#8
Gentzane Sánchez-Elexpuru, José M Serratosa, Marina P Sánchez
OBJECTIVE: To search for new therapies aimed at ameliorating the neurologic symptoms and epilepsy developing in patients with Lafora disease. METHODS: Lafora disease is caused by loss-of-function mutations in either the EPM2A or EPM2B genes. Epm2a(-/-) and Epm2b(-/-) mice display neurologic and behavioral abnormalities similar to those found in patients. Selenium is a potent antioxidant and its deficiency has been related to the development of certain diseases, including epilepsy...
January 18, 2017: Epilepsia
https://www.readbyqxmd.com/read/28098430/behavioral-and-electrophysiological-alterations-for-reinforcement-learning-in-manic-and-euthymic-patients-with-bipolar-disorder
#9
Vin Ryu, Ra Yeon Ha, Su Jin Lee, Kyooseob Ha, Hyun-Sang Cho
AIMS: Bipolar disorder is characterized by behavioral changes such as risk-taking and increasing goal-directed activities, which may result from altered reward processing. Patients with bipolar disorder show impaired reward learning in situations that require the integration of reinforced feedback over time. In this study, we examined the behavioral and electrophysiological characteristics of reward learning in manic and euthymic patients with bipolar disorder using a probabilistic reward task...
January 18, 2017: CNS Neuroscience & Therapeutics
https://www.readbyqxmd.com/read/28097206/-18-f-av-1451-pet-in-behavioral-variant-frontotemporal-dementia-due-to-mapt-mutation
#10
W Richard Bevan Jones, Thomas E Cope, Luca Passamonti, Tim D Fryer, Young T Hong, Franklin Aigbirhio, Jillian J Kril, Shelley L Forrest, Kieren Allinson, Jonathan P Coles, P Simon Jones, Maria G Spillantini, John R Hodges, John T O'Brien, James B Rowe
The validation of tau radioligands could improve the diagnosis of frontotemporal lobar degeneration and the assessment of disease-modifying therapies. Here, we demonstrate that binding of the tau radioligand [(18)F]AV-1451 was significantly abnormal in both magnitude and distribution in a patient with familial frontotemporal dementia due to a MAPT 10 + 16C>T gene mutation, recapitulating the pattern of neuropathology seen in her father. Given the genetic diagnosis and the non-Alzheimer's pathology, these findings suggest that [(18)F]AV-1451 might be a useful biomarker in primary tauopathies...
December 2016: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28095975/sleep-related-abnormal-sexual-behaviors-sexsomnia-successfully-treated-with-a-mandibular-advancement-device-a-case-report
#11
Imran S Khawaja, Thomas D Hurwitz, Carlos H Schenck
Sleep-related abnormal sexual behaviors (sexsomnia) are classified as a subtype of non-rapid eye movement sleep parasomnias. There are reported cases of control of sexsomnia with treatment of obstructive sleep apnea (OSA) with continuous positive airway pressure. We present a case of sexsomnia controlled with the treatment of OSA with a mandibular advancement device.
January 11, 2017: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/28094295/loss-of-pafr-prevents-neuroinflammation-and-brain-dysfunction-after-traumatic-brain-injury
#12
Xiang-Jie Yin, Zhen-Yan Chen, Xiao-Na Zhu, Jin-Jia Hu
Traumatic brain injury (TBI) is a principal cause of death and disability worldwide, which is a major public health problem. Death caused by TBI accounts for a third of all damage related illnesses, which 75% TBI occurred in low and middle income countries. With the increasing use of motor vehicles, the incidence of TBI has been at a high level. The abnormal brain functions of TBI patients often show the acute and long-term neurological dysfunction, which mainly associated with the pathological process of malignant brain edema and neuroinflammation in the brain...
January 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28093569/translational-evaluation-of-translocator-protein-as-a-marker-of-neuroinflammation-in-schizophrenia
#13
T Notter, J M Coughlin, T Gschwind, U Weber-Stadlbauer, Y Wang, M Kassiou, A C Vernon, D Benke, M G Pomper, A Sawa, U Meyer
Positron emission tomography (PET) imaging with radiotracers that target translocator protein 18 kDa (TSPO) has become a popular approach to assess putative neuroinflammatory processes and associated microglia activation in psychotic illnesses. It remains unclear, however, whether TSPO imaging can accurately capture low-grade inflammatory processes such as those present in schizophrenia and related disorders. Therefore, we evaluated the validity of TSPO as a disease-relevant marker of inflammation using a translational approach, which combined neurodevelopmental and neurodegenerative mouse models with PET imaging in patients with recent-onset schizophrenia and matched controls...
January 17, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28092022/relevance-of-neuroimaging-for-neurocognitive-and-behavioral-outcome-after-pediatric-traumatic-brain-injury
#14
Marsh Königs, Petra Jw Pouwels, L W Ernest van Heurn, Roel Bakx, R Jeroen Vermeulen, J Carel Goslings, Bwee Tien Poll-The, Marleen van der Wees, Coriene E Catsman-Berrevoets, Jaap Oosterlaan
This study aims to (1) investigate the neuropathology of mild to severe pediatric TBI and (2) elucidate the predictive value of conventional and innovative neuroimaging for functional outcome. Children aged 8-14 years with trauma control (TC) injury (n = 27) were compared to children with mild TBI and risk factors for complicated TBI (mild(RF+), n = 20) or moderate/severe TBI (n = 17) at 2.8 years post-injury. Neuroimaging measures included: acute computed tomography (CT), volumetric analysis on post-acute conventional T1-weighted magnetic resonance imaging (MRI) and post-acute diffusion tensor imaging (DTI, analyzed using tract-based spatial statistics and voxel-wise regression)...
January 14, 2017: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/28089908/human-aml-ipscs-reacquire-leukemic-properties-after-differentiation-and-model-clonal-variation-of-disease
#15
Mark P Chao, Andrew J Gentles, Susmita Chatterjee, Feng Lan, Andreas Reinisch, M Ryan Corces, Seethu Xavy, Jinfeng Shen, Daniel Haag, Soham Chanda, Rahul Sinha, Rachel M Morganti, Toshinobu Nishimura, Mohamed Ameen, Haodi Wu, Marius Wernig, Joseph C Wu, Ravindra Majeti
Understanding the relative contributions of genetic and epigenetic abnormalities to acute myeloid leukemia (AML) should assist integrated design of targeted therapies. In this study, we generated induced pluripotent stem cells (iPSCs) from AML patient samples harboring MLL rearrangements and found that they retained leukemic mutations but reset leukemic DNA methylation/gene expression patterns. AML-iPSCs lacked leukemic potential, but when differentiated into hematopoietic cells, they reacquired the ability to give rise to leukemia in vivo and reestablished leukemic DNA methylation/gene expression patterns, including an aberrant MLL signature...
December 26, 2016: Cell Stem Cell
https://www.readbyqxmd.com/read/28089657/autism-spectrum-disorder-in-the-scope-of-tactile-processing
#16
REVIEW
Mark Mikkelsen, Ericka L Wodka, Stewart H Mostofsky, Nicolaas A J Puts
Sensory processing abnormalities are among the most common behavioral phenotypes seen in autism spectrum disorder (ASD), typically characterized by either over- or under-responsiveness to stimulation. In this review, we focus on tactile processing dysfunction in ASD. We firstly review clinical studies wherein sensitivity to tactile stimuli has traditionally been assessed by self-, parent- and experimenter-reports. We also discuss recent investigations using psychophysical paradigms that gauge individual tactile thresholds...
December 23, 2016: Developmental Cognitive Neuroscience
https://www.readbyqxmd.com/read/28089258/the-effect-of-scapular-position-on-subacromial-contact-behavior-a-cadaver-study
#17
Takayuki Muraki, Nobuyuki Yamamoto, John W Sperling, Scott P Steinmann, Robert H Cofield, Kai-Nan An
BACKGROUND: Patients with subacromial impingement were reported to show abnormal scapular positions during shoulder elevation. However, the relationship between the scapular positions and subacromial impingement is unclear. The purpose of this study was to biomechanically determine the effect of scapular position on subacromial contact behavior by using fresh frozen cadavers. METHODS: The peak contact pressure on the coracoacromial arch was measured with a flexible tactile force sensor in 9 fresh frozen cadaver shoulders...
January 11, 2017: Journal of Shoulder and Elbow Surgery
https://www.readbyqxmd.com/read/28089250/pathology-of-behavior-in-pd-what-is-known-and-what-is-not
#18
REVIEW
Kaylena A Ehgoetz Martens, Simon J G Lewis
Abnormal behavior in Parkinson's disease (PD) stems from a complex orchestration of impaired neural networks that result from PD-related neurodegeneration across multiple levels. Typically, cellular and tissue abnormalities generate neurochemical changes and disrupt specific regions of the brain, in turn creating impaired neural circuits and dysfunctional global networks. The objective of this chapter is to provide an overview of the array of pathological changes that have been linked to different behavioral symptoms of PD such as depression, anxiety, apathy, fatigue, impulse control disorders, psychosis, sleep disorders and dementia...
December 29, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28088590/human-papillomavirus-hpv-68-and-58-are-the-most-prevalent-genotypes-in-women-from-quilombos-communities-in-the-state-of-maranh%C3%A3-o-brazil
#19
José Eduardo Batista, Vera Aparecida Saddi, Keila Patrícia Almeida de Carvalho, Andréa Alves Ribeiro, Kelly Deyse Segati, Megmar Aparecida Dos S Carneiro, Silvio G Monteiro, Maria do Desterro S B Nascimento, Silvia Helena Rabelo-Santos
OBJECTIVES: to determine the frequency of human papillomavirus (HPV) types and behavioral characteristics related to cytological abnormalities in women descendants of slaves, who live in isolated communities known as Quilombos in the state of Maranhão, Brazil. METHODS: Cervicovaginal specimens of 353 women were analyzed by conventional cytology and genotyping. HPV detection and genotyping was performed using a Linear Array HPV genotyping test kit. Behavioral factors and their association with cytological abnormalities were analyzed as well as the association between cytological abnormalities and HPV infection...
January 11, 2017: International Journal of Infectious Diseases: IJID
https://www.readbyqxmd.com/read/28088287/insulin-like-growth-factor-binding-protein-3-deficiency-leads-to-behavior-impairment-with-monoaminergic-and-synaptic-dysfunction
#20
Hongmei Dai, Yu-Ichi Goto, Masayuki Itoh
Insulin-like growth factor binding protein (IGFBP)-3 regulates IGF bioactivity, induces apoptosis, and inhibits cell growth independent of IGFs, but the functional role of IGFBP3 in the brain is not clear. In the present study, we revealed the effect of IGFBP3 on the brain by characterizing the phenotype of Igfbp3-null mice. Compared with wild-type mice, Igfbp3-null mice had significantly decreased IGF-1 content in the brain but no change in weights of brain and body. In Igfbp3-null mice, the number of dendritic spines was significantly reduced, and the dendritic diameter was thickening...
January 10, 2017: American Journal of Pathology
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