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https://www.readbyqxmd.com/read/28222516/intelligent-assistive-technology-for-alzheimer-s-disease-and-other-dementias-a-systematic-review
#1
Marcello Ienca, Jotterand Fabrice, Bernice Elger, Maurizio Caon, Alessandro Scoccia Pappagallo, Reto W Kressig, Tenzin Wangmo
Intelligent assistive technologies (IATs) have the potential of offering innovative solutions to mitigate the global burden of dementia and provide new tools for dementia care. While technological opportunities multiply rapidly, clinical applications are rare as the technological potential of IATs remains inadequately translated into dementia care. In this article, the authors present the results of a systematic review and the resulting comprehensive technology index of IATs with application in dementia care...
February 7, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28222504/bimanual-gesture-imitation-in-alzheimer-s-disease
#2
G Nter Sanin, Thomas Benke
BACKGROUND/OBJECTIVE: Unimanual gesture production or imitation has often been studied in Alzheimer's disease (AD) during apraxia testing. In the present study, it was hypothesized that bimanual motor tasks may be a sensitive method to detect impairments of motor cognition in AD due to increased demands on the cognitive system. METHODS: We investigated bimanual, meaningless gesture imitation in 45 AD outpatients, 38 subjects with mild cognitive impairment (MCI), and 50 normal controls (NC) attending a memory clinic...
February 7, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28222494/selecting-cases-and-controls-for-dna-sequencing-studies-using-family-histories-of-disease
#3
Wonji Kim, Dandi Qiao, Michael H Cho, Soo Heon Kwak, Kyong Soo Park, Edwin K Silverman, Pak Sham, Sungho Won
Recent improvements in sequencing technology have enabled the investigation of so-called missing heritability, and a large number of affected subjects have been sequenced in order to detect significant associations between human diseases and rare variants. However, the cost of genome sequencing is still high, and a statistically powerful strategy for selecting informative subjects would be useful. Therefore, in this report, we propose a new statistical method for selecting cases and controls for sequencing studies based on family history...
February 21, 2017: Statistics in Medicine
https://www.readbyqxmd.com/read/28222478/-possible-significance-of-bronchoalveolar-lavage-cytology-at-initial-diagnosis-and-follow-up-of-lung-cancer
#4
A Grünewaldt, C Hügel, E Hermann, T O F Wagner
Bronchoalveolar lavage [BAL] is an important procedure in the diagnosis of a variety of lung diseases. While it has enormous value in the diagnostics of inflammatory parenchymal diseases, its significance in lung cancer is unclear. Keeping in mind that immune therapy (e. g. application of checkpoint inhibitors) is gaining importance in the management of lung carcinoma, it is important to know if there are typical cellular patterns in BAL of lung cancer patients. Methods In a retrospective proof of principle-study, we analyzed 38 patients who underwent BAL at the initial diagnosis of lung cancer...
February 2017: Pneumologie
https://www.readbyqxmd.com/read/28222449/characterization-of-cutaneous-plasmacytosis-at-different-disease-stages
#5
Pa-Fan Hsiao, Yu-Hung Wu
BACKGROUND/AIMS: Cutaneous plasmacytosis is rare and still not well understood. A retrospective study was made of 9 Chinese patients with 1- to 15-year histories of biopsy-proven cutaneous plasmacytosis diagnosed between 2003 and 2015. METHODS: Patient records and archival photographs helped establish the pattern and duration of skin lesions, and skin biopsy specimens provided additional data. RESULTS: The mean age at diagnosis was 46.4 years...
February 22, 2017: Dermatology: International Journal for Clinical and Investigative Dermatology
https://www.readbyqxmd.com/read/28222441/unusual-occurrence-of-multifocal-desmoplastic-infantile-astrocytoma-a-case-report-and-review-of-the-literature
#6
Vinayak Narayan, Amey R Savardekar, Anita Mahadevan, Arimappamagan Arivazhagan, Lingegowda Appaji
Desmoplastic infantile gliomas are rare, benign tumors of the early infancy period. Two histological subtypes - desmoplastic infantile astrocytoma (DIA) and desmoplastic infantile ganglioglioma - have been described. The characteristic features of DIAs are lobar location, glial histology, and excellent prognosis after complete surgical excision. DIAs usually present as solitary, cortical-surfacing, solid-cystic neoplasms; however, atypical, aggressive, and multifocal variants of DIA have been reported in the literature...
February 22, 2017: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28222413/a-new-tr%C3%AE-mutation-in-resistance-to-thyroid-hormone-syndrome
#7
Corina Neamţu, Claudiu Ţupea, Diana Păun, Anca Hoisescu, Adina Ghemigian, Samuel Refetoff, Chutintorn Sriphrapradang
Thyroid hormones (TH) exert their actions by binding nuclear receptors alpha (TRα1) and beta (TRß1 and TRß2). Resistance to thyroid hormone (RTH) is a clinical syndrome with various clinical manifestations, its hallmark being decreased tissue sensitivity to the action of thyroid hormones. We report the case of a family harbouring a novel TRß mutation. Sequencing of the TRβ gene revealed a single nucleotide substitution-C to G in codon 340: glutamine was replaced by glutamic acid. The clinical picture and biochemical and hormonal panel showed significant differences within the family, despite their sharing the same mutation...
October 2016: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28222409/a-novel-mutation-of-the-calcium-sensing-receptor-gene-in-a-german-subject-with-familial-hypocalciuric-hypercalcemia-and-primary-hyperparathyroidism
#8
Marios Papadakis, Natalie Meurer, Theodora Margariti, Anke Meyer, Norbert Weyerbrock, Cornelia Dotzenrath
OBJECTIVE: The coexistence of familial hypocalciuric hypercalcemia (FHH) and primary hyperparathyroidism (PHPT) is extremely rare. Genetic evidence has demonstrated a causal relationship between FHH and the presence of inactivating mutations in the calcium-sensing receptor gene. METHOD: We herein report a 60-year-old German patient who was referred for hypercalcemia and increased PTH levels found incidentally during normal routine blood tests. RESULTS: The patient underwent surgical exploration and the diagnosis of PHPT was histologically confirmed...
October 2016: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28222339/everyday-memory-impairment-in-patients-with-temporal-lobe-epilepsy-caused-by-hippocampal-sclerosis
#9
Patrícia Rzezak, Ellen Marise Lima, Ana Carolina Gargaro, Erica Coimbra, Silvia de Vincentiis, Tonicarlo Rodrigues Velasco, João Pereira Leite, Geraldo F Busatto, Kette D Valente
OBJECTIVE: Patients with temporal lobe epilepsy caused by hippocampal sclerosis (TLE-HS) have episodic memory impairment. Memory has rarely been evaluated using an ecologic measure, even though performance on these tests is more related to patients' memory complaints. We aimed to measure everyday memory of patients with TLE-HS to age- and gender-matched controls. METHODS: We evaluated 31 patients with TLE-HS and 34 healthy controls, without epilepsy and psychiatric disorders, using the Rivermead Behavioral Memory Test (RBMT), Visual Reproduction (WMS-III) and Logical Memory (WMS-III)...
February 18, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28222323/a-case-report-of-the-clear-cell-variant-of-gallbladder-carcinoma
#10
Ravi Maharaj, Christo Cave, Kevin Sarran, Nigel Bascombe, Dilip Dan, Wesley Greaves, Wayne A Warner
INTRODUCTION: Clear cell gallbladder carcinoma accounts for less than 1% of all gallbladder malignancies and demonstrates its unique histopathological characteristics in patients with no prior medical illness or familial predisposition. PRESENTATION OF CASE: Here we present a case of a 56-year-old female, with no prior medical conditions presented with a 2-month history of upper abdominal pain. Routine hematological and biochemical tests were unremarkable. An abdominal ultrasound revealed the presence of a gallbladder calculi, and a fundic mass while magnetic resonance cholangiopancreatography revealed a 8...
January 12, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28222271/pathways-to-lung-cancer-diagnosis-a-qualitative-study-of-patients-and-general-practitioners-about-diagnostic-and-pre-treatment-intervals
#11
Nicole M Rankin, Sarah York, Emily Stone, David Barnes, Deborah McGregor, Michelle Lai, Tim Shaw, Phyllis N Butow
RATIONALE: Pathways to lung cancer diagnosis and treatment are complex. International evidence shows significant variations in pathways. Qualitative research investigating pathways to lung cancer diagnosis rarely considers both patient and general practitioner views simultaneously. OBJECTIVES: To describe the lung cancer diagnostic pathway, focusing on the perspective of patients and general practitioners about diagnostic and pre-treatment intervals. METHODS: This qualitative study of lung cancer patients and general practitioners in Australia used qualitative interviews or a focus group in which participants responded to a semistructured questionnaire designed to explore experiences of the diagnostic pathway...
February 21, 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28222205/complex-cystine-kidney-stones-treated-with-combined-robot-assisted-laparoscopic-pyelolithotomy-and-intraoperative-renoscopy
#12
Luca Meggiato, Francesco Cattaneo, Fabio Zattoni, Fabrizio Dal Moro, Paolo Beltrami, Filiberto Zattoni
INTRODUCTION: Cystinuria, a rare autosomal recessive disease characterized by a defect in cystine renal reabsorption, can often determine complex cystine renal calculi, leading to important complications such as urinary obstruction, urinary infections, and impaired kidney function. Complex kidney stones can have a difficult management and can be very arduous to treat. CASE DESCRIPTION: We present the case of a 20-year-old Jeowah's witness woman with complex cystine renal stones treated with combined robot-assisted laparoscopic pyelolithotomy and intraoperative renoscopy...
February 18, 2017: Urologia
https://www.readbyqxmd.com/read/28222122/poor-replication-validity-of-biomedical-association-studies-reported-by-newspapers
#13
Estelle Dumas-Mallet, Andy Smith, Thomas Boraud, François Gonon
OBJECTIVE: To investigate the replication validity of biomedical association studies covered by newspapers. METHODS: We used a database of 4723 primary studies included in 306 meta-analysis articles. These studies associated a risk factor with a disease in three biomedical domains, psychiatry, neurology and four somatic diseases. They were classified into a lifestyle category (e.g. smoking) and a non-lifestyle category (e.g. genetic risk). Using the database Dow Jones Factiva, we investigated the newspaper coverage of each study...
2017: PloS One
https://www.readbyqxmd.com/read/28222103/owner-perceived-differences-between-mixed-breed-and-purebred-dogs
#14
Borbála Turcsán, Ádám Miklósi, Enikő Kubinyi
Studies about the behaviours of mixed-breed dogs are rare, although mixed-breeds represent the majority of the world's dog population. We have conducted two surveys to investigate the behavioural, demographic, and dog keeping differences between purebred and mixed-breed companion dogs. Questionnaire data were collected on a large sample of dogs living in Germany (N = 7,700 purebred dogs representing more than 200 breeds, and N = 7,691 mixed-breeds). We found that according to their owners, mixed-breeds were (1) less calm, (2) less sociable toward other dogs, and (3) showed more problematic behaviour than purebreds (p < 0...
2017: PloS One
https://www.readbyqxmd.com/read/28222070/inhibition-of-polypyrimidine-tract-binding-protein-3-induces-apoptosis-and-cell-cycle-arrest-and-enhances-the-cytotoxicity-of-5-fluorouracil-in-gastric-cancer-cells
#15
Xin Liang, Haiyang Shi, Liyan Yang, Cen Qiu, Shengchao Lin, Yingxue Qi, Jiyu Li, Aiguang Zhao, Jianwen Liu
BACKGROUND: Human polypyrimidine tract binding protein 3 (PTBP3) was first discovered in 1999 and has been well characterised as a differentiation regulator. However, its role in human cancer has rarely been reported. Our previous study revealed increased PTBP3 protein level in gastric cancer tissues. Downregulation of PTBP3 suppressed the proliferation and differentiation of gastric cancer cells in vivo. METHODS: PTBP3 mRNA levels in human gastric cancer and adjuvant non-tumour tissues were detected...
February 21, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28222034/three-cases-of-gordon-syndrome-with-dominant-klhl3-mutations
#16
Ji Soo Park, Eujin Park, Hye Sun Hyun, Yo Han Ahn, Hee Gyung Kang, Il-Soo Ha, Hae Il Cheong
BACKGROUND: Gordon syndrome (GS) is a rare form of monogenic hypertension characterized by low renin hypertension, hyperkalemia, hyperchloremic metabolic acidosis, and normal glomerular filtration rate. To date, four genes causing GS have been identified as: WNK1, WNK4, CUL3, and KLHL3. CASE REPORT: We report three cases of GS in two families. All patients presented with typical clinical features of GS and had a known dominant KLHL3 mutation. Oral thiazide treatment with low salt diet resulted in normalization of blood pressure and serum electrolytes in all three cases...
February 21, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28222032/unexplained-cyanosis-caused-by-hepatopulmonary-syndrome-in-a-girl-with-apeced-syndrome
#17
Fatih Celmeli, Abdullah Kocabas, Ishak A Isik, Mesut Parlak, Kai Kisand, Serdar Ceylaner, Doga Turkkahraman
Autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED) is a rare but devastating primary immunodeficiency disease caused by loss-of-function mutations in autoimmune regulator (AIRE) gene on chromosome 21q22.3. The clinical spectrum of the disease is characterized by a wide heterogeneity because of autoimmune reactions toward different endocrine and non-endocrine organs. Here, we report a 17-year-old Turkish girl diagnosed with APECED at 9 years in whom a novel homozygote mutation in AIRE gene p...
February 21, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28221967/assessment-of-risk-communication-about-undercooked-hamburgers-by-restaurant-servers
#18
Ellen M Thomas, Andrew R Binder, Anne McLAUGHLIN, Lee-Ann Jaykus, Dana Hanson, Douglas Powell, Benjamin Chapman
According to the U.S. Food and Drug Administration 2013 Model Food Code, it is the duty of a food establishment to disclose and remind consumers of risk when ordering undercooked food such as ground beef. The purpose of this study was to explore actual risk communication behaviors of food establishment servers. Secret shoppers visited 265 restaurants in seven geographic locations across the United States, ordered medium rare burgers, and collected and coded risk information from chain and independent restaurant menus and from server responses...
December 2016: Journal of Food Protection
https://www.readbyqxmd.com/read/28221857/listeria-monocytogenes-isolates-carrying-virulence-attenuating-mutations-in-internalin-a-are-commonly-isolated-from-ready-to-eat-food-processing-plant-and-retail-environments
#19
A VAN Stelten, A R Roberts, C S Manuel, K K Nightingale
Listeria monocytogenes is a human foodborne pathogen that may cause an invasive disease known as listeriosis in susceptible individuals. Internalin A (InlA; encoded by inlA) is a virulence factor that facilitates crossing of host cell barriers by L. monocytogenes . At least 19 single nucleotide polymorphisms (SNPs) in inlA that result in a premature stop codon (PMSC) have been described worldwide. SNPs leading to a PMSC in inlA have been shown to be causally associated with attenuated virulence. L. monocytogenes pathogens carrying virulence-attenuating (VA) mutations in inlA have been commonly isolated from ready-to-eat (RTE) foods but rarely have been associated with human disease...
October 2016: Journal of Food Protection
https://www.readbyqxmd.com/read/28221836/mimicry-among-unequally-defended-prey-should-be-mutualistic-when-predators-sample-optimally
#20
Thomas G Aubier, Mathieu Joron, Thomas N Sherratt
Understanding the conditions under which moderately defended prey evolve to resemble better-defended prey and whether this mimicry is parasitic (quasi-Batesian) or mutualistic (Müllerian) is central to our understanding of warning signals. Models of predator learning generally predict quasi-Batesian relationships. However, predators' attack decisions are based not only on learning alone but also on the potential future rewards. We identify the optimal sampling strategy of predators capable of classifying prey into different profitability categories and contrast the implications of these rules for mimicry evolution with a classical Pavlovian model based on conditioning...
March 2017: American Naturalist
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