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Christoph Niemietz, Christoph Röcken, Matthias Schilling, Jörg Stypman, Constantin E Uhlig, Hartmut H-J Schmidt
Transthyretin-related Familial Amyloid Polyneuropathy (ATTR Amyloidosis, former FAP, here called TTR-FAP) is a rare, progressive autosomal dominant inherited amyloid disease ending fatal within 5 - 15 years after final diagnosis. TTR-FAP is caused by mutations of transthyretin (TTR), which forms amyloid fibrils affecting peripheral and autonomic nerves, the heart and other organs. Due to the phenotypic heterogeneity and partly not specific enough clinical symptoms, diagnosis of TTR-FAP can be complicated...
March 2018: Deutsche Medizinische Wochenschrift
Malte Milkau, Friedhelm Sayk
Thyroid storm and myxedema coma are the most severe clinical forms of thyroid dysfunction. While both hyper- and hypothyroidsm are common diseases, thyroid storm and myxedema coma are rare. Due to their unspecific signs and symptoms they are often difficult to diagnose. Both disorders are medical emergencies, which still show a significant mortality. The following article summarizes diagnostic tools and treatment options for these disorders.
March 2018: Deutsche Medizinische Wochenschrift
Ceren D Durmaz, Gareth Evans, Miriam J Smith, Pelin Ertop, Bengü N Akay, Timur Tuncalı
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a rare multisystemic autosomal dominant disorder typically presenting with cutaneous basal cell carcinomas, multiple keratocysts, and skeletal anomalies. NBCCS is caused by heterozygous mutations in the PTCH1 gene in chromosome 9q22, in the PTCH2 gene in 1p34, or the SUFU gene in 10q24.32. Here, we report on an 18-month-old boy presenting with medulloblastoma, frontal bossing, and multiple skeletal anomalies and his father who has basal cell carcinomas, palmar pits, macrocephaly, bifid ribs, calcification of falx cerebri, and a history of surgery for odontogenic keratocyst...
March 16, 2018: Cytogenetic and Genome Research
Tiffany Field
The increasing prevalence of postnatal anxiety highlights the need for summarizing the recent research on this condition to inform screening and intervention efforts. This narrative review of the literature was derived from a search on PubMed and PsycINFO for papers published since 2010. The demographic risk factors for postnatal anxiety include being a young mother, having more education and being employed. Childbirth risk factors include being primiparous in one sample and multiparous in another, caesarean delivery, fear of the birth and of death during delivery, lack of control during labor, low self-confidence for the delivery and the delivery staff, and premature delivery...
March 12, 2018: Infant Behavior & Development
K Soelberg, A C Nilsson, C Nielsen, S Jarius, M Reindl, B Wildemann, S T Lillevang, N Asgari
BACKGROUND: Optic neuritis (ON) is an inflammatory optic neuropathy, where the genetic and autoimmune dependency remains poorly characterized. OBJECTIVE: To investigate autoimmune and immunogenetic aspects of ON. METHOD: In a prospective population-based cohort 51 patients with ON were included. At follow up 20 patients had progressed to multiple sclerosis (MS-ON). All patients were screened for neuronal and systemic autoantibodies. HLA genotypes and allele and genotype frequencies of the PTPN22 C1858T and the PD-1...
March 7, 2018: Multiple Sclerosis and related Disorders
Dian He, Yuan Li, Yunli Yu, Gang Cai, Fu Ouyang, Yuchan Lin, Hongjuan Lu, Lan Chu
Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder that primarily affects the skin and the nervous system. This condition is called segmental NF1 (also called neurofibromatosis type V) when clinical features are limited to one area of the body. Segmental NF1 is generally thought to result from somatic mosaicism due to a postzygotic mutation in the NF1 gene, thus a test for NF1 gene abnormalities in peripheral blood is usually negative. Here we report a 31-year-old male presenting with epileptic seizures, who had a history of neurofibromas confirmed by biopsy, but lacked a family history of neurofibromatosis...
March 1, 2018: Clinical Neurology and Neurosurgery
Toby Wise, Matthew J Taylor, Andres Herane-Vives, Antonella Marino Gammazza, Francesco Cappello, David J Lythgoe, Steve Cr Williams, Allan H Young, Anthony J Cleare, Danilo Arnone
BACKGROUND: There is uncertainty as to whether alterations in glutamatergic function in affective disorders differ between unipolar and bipolar disorders and between depressive and euthymic states. Additionally, there are currently no available blood-based markers of central glutamatergic function to support clinical diagnosis and aid brain based investigations. METHODS: In this study, we measured levels of glutamate in the dorsal anterior cingulate cortex in-vivo using 1H-Magnetic Resonance Spectroscopy in medication free unipolar and bipolar patients (n = 29, 20 unipolar and 9 bipolar) experiencing a major depressive episode, in comparison with a group of matched healthy controls (n = 20)...
February 27, 2018: Journal of Affective Disorders
Katherine B Carnelley, Mona-Maria Bejinaru, Lorna Otway, David S Baldwin, Angela C Rowe
BACKGROUND: The aim of this study was to assess the potential effectiveness of secure attachment priming in outpatients with depressive disorders. METHODS: Forty-eight participants engaged in secure attachment priming or neutral priming in the laboratory (Time 1), after which they received three daily consecutive primes via text message (Times 2-4), aimed at maintaining the effects from Time 1. A follow-up one day later (Time 5) was also included. Dependent measures were assessed at Times 1, 4 and 5...
March 12, 2018: Journal of Affective Disorders
Ana Carolina Lima Cavaletti, Célia Pereira Caldas, Kenio Costa de Lima
OBJECTIVES: To identify the diseases that lead older persons to hospitalizations in the public health system in the state of Rio de Janeiro and, through a study of spatial distribution among hospitalization rates of the municipal districts, discuss the social contexts involved in the hospitalization of the elderly. METHODS: An ecological cross-sectional study using secondary data from the Brazilian hospital information system from the period 2009 to 2015 was performed...
March 12, 2018: Value in Health Regional Issues
Harshini Manohar, Pooja Patnaik Kuppili, Preeti Kandasamy, Venkatesh Chandrasekaran, Ravi Philip Rajkumar
BACKGROUND: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder commonly associated with Attention Deficit Hyperactivity Disorder (ADHD), the prevalence ranging from 14-70%. The current study attempted to assess the impact of comorbid ADHD in children with ASD, in terms of challenges in diagnosis, treatment, intervention outcomes and parental stress and coping through a naturalistic design. METHODS: Fifty children aged 2-6 years with ASD were recruited, assessed and followed up for six months...
March 2, 2018: Asian Journal of Psychiatry
Brenda Si Elias, Ana Hanlon-Dearman, Betty Head, Geoffrey G Hicks
Translating to the Community (T2C) is a social bio-repository designed to advance new diagnostic tools and realign community-clinical processes, with the aim to mitigate the short-and-long term impacts of Fetal Alcohol Spectrum Disorder (FASD), prenatal alcohol exposure, and its co-morbidities and behaviors. In this paper, we describe the evolution of this repository as a new translational partnership to advance a precision medicine approach to FASD. Key to its evolution was a partnership between academic researchers, Indigenous communities, families and a regional diagnostic clinic...
March 15, 2018: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
Diana Olvera, Rachel Stolzenfeld, Joan C Marini, Michelle S Caird, Kenneth M Kozloff
Osteogenesis imperfecta (OI) is a genetic disorder characterized by altered bone quality and imbalanced bone remodeling, leading to skeletal fractures which are most prominent during childhood. Treatments for OI have focused on restoring pediatric bone density and architecture to recover functional strength and consequently reduce fragility. Though antiresorptive agents like bisphosphonates (BP) are currently the most common intervention for the treatment of OI, a number of studies have shown efficacy of sclerostin antibody (SclAb) in inducing gains in bone mass and reducing fragility in OI mouse models...
March 15, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
Claire M Lawlor, Charles A Riley, John M Carter, Kimsey H Rodriguez
Importance: The 1996 Tonsillectomy and Adenoidectomy Inpatient Guidelines of the American Academy of Otolaryngology-Head and Neck Surgery (AAO-HNS) Pediatric Otolaryngology Committee recommended that children younger than 3 years be admitted following tonsillectomy. Recommendations for hospital observation were not included as a key action statement in the 2011 AAO-HNS Clinical Practice Guidelines for Tonsillectomy in Children. Objective: To examine the association between posttonsillectomy complication rate and the age and weight of the child at the time of surgery...
March 15, 2018: JAMA Otolaryngology—Head & Neck Surgery
Rafał Podgórski, David Aebisher, Monika Stompor, Dominika Podgórska, Artur Mazur
The aim of this paper is a straightforward presentation of the steroidogenesis process and the most common type of congenital adrenal hyperplasia (CAH) - 21-hydroxylase deficiency - as well as the analytical diagnostic methods that are used to recognize this disease. CAH is a family of common autosomal recessive disorders characterized by impaired adrenal cortisol biosynthesis with associated androgen excess due to a deficiency of one or more enzymes in the steroidogenesis process within the adrenal cortex...
March 15, 2018: Acta Biochimica Polonica
Kim C M Bul, Lisa L Doove, Ingmar H A Franken, Saskia Van der Oord, Pamela M Kato, Athanasios Maras
OBJECTIVE: The aim of the current study was to identify which subgroups of children with Attention Deficit Hyperactivity Disorder (ADHD) benefitted the most from playing a Serious Game (SG) intervention shown in a randomized trial to improve behavioral outcomes. METHOD: Pre-intervention characteristics [i.e., gender, age, intellectual level of functioning, medication use, computer experience, ADHD subtype, severity of inattention problems, severity of hyperactivity/impulsivity problems, comorbid Oppositional Defiant Disorder (ODD) and Conduct Disorder (CD) symptoms] were explored as potential moderators in a Virtual Twins (VT) analysis to identify subgroups for whom the SG intervention was most effective...
2018: PloS One
Cheng-Han Wu, Bang-Hung Yang, Yuan-Hwa Chou, Shyh-Jen Wang, Jyh-Cheng Chen
99mTc-TRODAT-1 is a type of drug that can bind to dopamine transporters in living organisms and is often used in SPCT imaging for observation of changes in the activity uptake of dopamine in the striatum. Therefore, it is currently widely used in studies on clinical diagnosis of Parkinson's disease (PD) and movement-related disorders. In conventional 99mTc-TRODAT-1 SPECT image evaluation, visual inspection or manual selection of ROI for semiquantitative analysis is mainly used to observe and evaluate the degree of striatal defects...
2018: PloS One
Wendy A Davis, David G Bruce, Milan Dragovic, Timothy M E Davis, Sergio E Starkstein
BACKGROUND: Previous research using latent class analysis (LCA) identified classes of people with type 2 diabetes and specific profiles of depression and anxiety. Since LCA-derived anxious depression strongly predicts cardiovascular outcomes and mortality but cannot be applied to individuals, we developed a validated combined depression-anxiety metric, the Diabetes Anxiety Depression Scale (DADS), for potential clinical application in people with type 2 diabetes. METHODS: 1,337 participants with type 2 diabetes from the observational community-based Fremantle Diabetes Study Phase II completed the Patient Health Questionnaire 9-item version (PHQ-9) to assess symptoms of depression, and the Generalised Anxiety Disorder Scale (GADS) to assess symptoms of anxiety...
2018: PloS One
Stella Arelaki, Athanasios Arampatzioglou, Konstantinos Kambas, Efthimios Sivridis, Alexandra Giatromanolaki, Konstantinos Ritis
Inflammation is a hallmark of colorectal cancer (CRC). Neutrophils are well-known mediators in tumor biology but their role in solid tumors, including CRC, was redefined by neutrophil extracellular traps (NETs). Given that it was recently demonstrated that platelet-derived polyP primes neutrophils to release NETs, we examined surgical specimens from CRC to investigate the presence of polyP, as a possible NET inducer. Biopsies with adenomas, hyperplastic polyps, inflammatory bowel disease and healthy colon tissues were used as controls...
2018: PloS One
Leone de Voogd, Reinout W Wiers, Peter J de Jong, Robert J Zwitser, Elske Salemink
INTRODUCTION: Negatively biased interpretations play an important role in anxiety and depression, which are highly prevalent in adolescence, and changing such biases might thus reduce or prevent emotional disorders. We investigated the short- and long-term effects of an online interpretation bias modification training in unselected adolescents to explore its potential in preventing anxiety and depression. METHODS: Participants (N = 173) were randomly allocated to eight online sessions of interpretation or placebo training...
2018: PloS One
Belén López-Pérez, Catherine Deeprose, Yaniv Hanoch
Mental imagery is known to play a key role in the development and maintenance of depression and anxiety. Prisoners commonly experience psychological distress, but interventions to address this are currently lacking. We aimed to examine the link between prospective mental imagery and anxiety and depression among prisoners. One hundred twenty-three male prisoners from a Category C prison in southwest England participated in the study. They completed the Centre for Epidemiologic Studies Depression Scale (CES-D) and the General Anxiety Disorder Scale (GAD-7) to measure whether they experience depression and/or anxiety symptoms...
2018: PloS One
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