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https://www.readbyqxmd.com/read/28728222/-application-of-p16-ki-67-immunocytochemistry-in-triage-of-patients-with-atypical-squamous-cells-of-undetermined-significance
#1
R R Jin, H W Ma, T Y Chen, R Rong, Y Wu, S L Li, Z H Zhang
Objective: To investigate the clinical value of p16/Ki-67 immunocytochemistry in patients with atypical squamous cells of undetermined significance(ASC-US). Methods: One hundred and seventy-one cases of thin-prep cytology test (TCT) diagnosed as ASC-US underwent p16/Ki-67 immunocytochemistry. All patients had colposcopy and biopsy from March 2015 to January 2016. Ninety of the 171 cases underwent high-risk HPV test at the same time. Results: p16/Ki-67 immunocytochemistry was positive in 43.9% (75/171) of the 171 cytology samples; the sensitivity and specificity of p16/Ki-67 immunocytochemistry were 77...
July 8, 2017: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/28727752/atypical-presentation-of-hepatic-visceral-larva-migrans-mimicking-cancer-and-associated-with-adamts13-deficiency-mediated-thrombotic-microangiopathy-a-first-report-from-reunion-island
#2
Simon Bonnefond, Aurélie Foucher, Patricia Zunic, Gautier Hoarau, Jean-François Magnaval
No abstract text is available yet for this article.
July 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28727482/atypical-preference-for-infant-directed-speech-as-an-early-marker-of-autism-spectrum-disorders-a-literature-review-and-directions-for-further-research
#3
Marisa G Filipe, Linda Watson, Selene G Vicente, Sónia Frota
Autism spectrum disorders (ASD) refer to a complex group of neurodevelopmental disorders causing difficulties with communication and interpersonal relationships, as well as restricted and repetitive behaviours and interests. As early identification, diagnosis, and intervention provide better long-term outcomes, early markers of ASD have gained increased research attention. This review examines evidence that auditory processing enhanced by social interest, in particular auditory preference of speech directed towards infants and young children (i...
July 20, 2017: Clinical Linguistics & Phonetics
https://www.readbyqxmd.com/read/28727343/-hypophosphatasia
#4
Eleni Tsiantouli, Andrea Trombetti, Serge Ferrari
Hypophosphatasia (HPP) is an inborn metabolic bone disorder caused by loss-of-function mutations in the gene encoding tissue nonspecific alkaline phosphatase (TNSALP). The adult form can be mistaken with common osteoporosis and/or present recurrent metatarsal fractures, skeletal and muscular pain. Subtrochanteric femoral pseudofractures resembling bisphosphonate-associated atypical femoral fractures can also be present, and Bps are therefore contraindicated in HPP. Early tooth loss and renal calcifications can orient towards the diagnosis...
April 19, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28727159/children-with-heavy-prenatal-alcohol-exposure-exhibit-atypical-gait-characteristics
#5
Tenille C Taggart, Roger W Simmons, Jennifer D Thomas, Edward P Riley
BACKGROUND: Impaired motor function in children with histories of prenatal exposure to alcohol has been previously reported but, to date, no studies using quantitatively-based analyses have been performed to assess gait in these children. METHODS: Gait of children with (n = 18) or without (n = 26) prenatal alcohol exposure was assessed using an electronically instrumented walkway. Children completed blocks of trials traversing the walkway with different combinations of walking condition (increased, self-paced, and decreased cadence) and direction (forward and backward)...
July 20, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/28726805/prepl-deficiency-delineation-of-the-phenotype-and-development-of-a-functional-blood-assay
#6
Luc Régal, Emma Mårtensson, Isabelle Maystadt, Nicol Voermans, Damien Lederer, Alberto Burlina, María Jesús Juan Fita, A Jeannette M Hoogeboom, Mia Olsson Engman, Tess Hollemans, Meyke Schouten, Sandra Meulemans, Tord Jonson, Inge François, David Gil Ortega, Erik-Jan Kamsteeg, John W M Creemers
PurposePREPL deficiency causes neonatal hypotonia, ptosis, neonatal feeding difficulties, childhood obesity, xerostomia, and growth hormone deficiency. Different recessive contiguous gene deletion syndromes involving PREPL and a variable combination of SLC3A1 (hypotonia-cystinuria syndrome), CAMKMT (atypical hypotonia-cystinuria syndrome), and PPM1B (2p21 deletion syndrome) have been described. In isolated PREPL deficiency, previously described only once, the absence of cystinuria complicates the diagnosis...
July 20, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28726429/-osteoprotective-therapy-with-bisphosphonates-or-denosumab-in-patients-with-multiple-myeloma-benefit-and-risks
#7
Zdeněk Adam, Jan Straub, Marta Krejčí, Luděk Pour, Dagmar Brančíková, Lenka Ostřížková, Viera Sandecká, Martin Štork
Bisphosphonates have been used during the complete treatment of multiple myeloma for more than twenty years. They slow osteolysis and thereby contribute to the improvement of quality of life. Their long-term use, however, is related to 2 serious, usually later appearing complications: osteonecrosis of the jaw, occurring in 6-9 % of patients, and rarer atypical bone fractures. Both these complications are very difficult to heal, and all the more emphasis is therefore laid on prevention. This first of all includes discussion about the risk with the patient, followed by a dental checkup before the commencement of therapy and then repeated during its course, as well as reduced use of these drugs for a necessary period of time...
2017: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/28726134/non-functioning-parathyroid-carcinoma-a-case-report
#8
Nobuyasu Suganuma, Hiroyuki Iwasaki, Satoru Shimizu, Tatsuya Yoshida, Takashi Yamanaka, Izumi Kojima, Haruhiko Yamazaki, Soji Toda, Hirotaka Nakayama, Katsuhiko Masudo, Yasushi Rino, Kae Kawachi, Yohei Miyagi, Akio Miyake, Kenichi Ohashi, Munetaka Masuda
BACKGROUND: Non-functioning parathyroid carcinoma is a rare disease that is difficult to distinguish from other diseases based on the lack of hyperparathyroidism. This is a report of non-functioning parathyroid carcinoma diagnosed by reverse transcription polymerase chain reaction (RT-PCR) targeting parathyroid hormone (PTH) messenger RNA. CASE PRESENTATION: The patient is a 67-year-old male who visited our hospital for the chief complaint of hoarseness. A 5-cm mass was observed in the right lobe of the thyroid gland, and poorly differentiated thyroid carcinoma was suspected according to the fine-needle biopsy results...
December 2017: Surgical Case Reports
https://www.readbyqxmd.com/read/28725563/atypical-hemolytic-uremic-syndrome-triggered-by-varicella-infection
#9
Pauline Condom, Jean-Michel Mansuy, Stéphane Decramer, Jacques Izopet, Catherine Mengelle
Varicella Zoster Virus (VZV) is a well-known virus that belongs to the Herpesviridae family which induces a self-limited disease except in specific cases in particular among stem cell transplant patients. This virus is not known however to trigger atypical Hemolytic Uremic Syndrome (aHUS). Here we report the case of a six-year-old boy who was hospitalized with fever and abdominal pains associated to pruritic and vesicular rash, thrombocytopenia and acute renal failure. He was diagnosed with aHUS precipitated by varicella virus...
2017: IDCases
https://www.readbyqxmd.com/read/28725025/an-atypical-case-of-spg56-cyp2u1-related-spastic-paraplegia-presenting-with-delayed-myelination
#10
Gaku Minase, Satoko Miyatake, Shin Nabatame, Hiroshi Arai, Eriko Koshimizu, Takeshi Mizuguchi, Mitsuko Nakashima, Noriko Miyake, Hirotomo Saitsu, Toshinobu Miyamoto, Kazuo Sengoku, Naomichi Matsumoto
Hereditary spastic paraplegia (HSP) is a neurological disorder characterized by a progressive spasticity and muscle weakness of the lower limbs. It is divided into two subtypes, uncomplicated and complicated forms. Biallelic mutations in the cytochrome P450 2U1 gene (CYP2U1) are associated with spastic paraplegia type 56 (SPG56), manifesting both uncomplicated and complicated HSP. Accompanying clinical features include intellectual disability, dystonia, cerebellar ataxia, subclinical peripheral neuropathy, visual impairment, as well as abnormalities in brain magnetic resonance imaging...
July 20, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28724949/overexpression-of-slpre2-an-atypical-bhlh-transcription-factor-affects-plant-morphology-and-fruit-pigment-accumulation-in-tomato
#11
Zhiguo Zhu, Guoping Chen, Xuhu Guo, Wencheng Yin, Xiaohui Yu, Jingtao Hu, Zongli Hu
The basic helix-loop-helix (bHLH) proteins are a large family of transcription factors that control various developmental processes in eukaryotes, but the biological roles of most bHLH proteins are not very clear, especially in tomato. In this study, a PRE-like atypical bHLH gene was isolated and designated as SlPRE2 in tomato. SlPRE2 was highly expressed in immature-green fruits, moderately in young leaves, flowers, and mature-green fruits. To further research the function of SlPRE2, a 35 S:PRE2 binary vector was constructed and transformed into wild type tomato...
July 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28724820/a-rare-case-of-cleft-number-nine-associated-with-atypical-cleft-number-two
#12
Shivanand Chanabasu Bubanale, Santosh B Kurbet, Linda Maria Genoveva De Piedade Sequeira
The incidence of the craniofacial cleft is rare ranging between 1.43 and 4.85/100,000 births. Tessier number nine cleft being the rarest, there are a few reports of detailed ophthalmologic examinations performed in them. In this study, 1-day-old female neonate delivered by normal vaginal delivery at term, weighing 1480 g presented with right eye dystopia, cleft extending through the lateral third of the upper eyelid, brow ending at the temporal region, conjunctival congestion, clear cornea 10 mm in diameter, normal anterior chamber, pupil 2 mm reactive to light, clear lens, and normal fundus...
July 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28724461/tuberculous-otitis-media-a-resurgence
#13
M Kameswaran, K Natarajan, M Parthiban, P V Krishnan, S Raghunandhan
OBJECTIVE: Tuberculosis is a global health problem that is especially prevalent in developing countries such as India. Recently, atypical presentation has become more common and a high index of suspicion is essential. This study analysed the various presenting symptoms and signs of tuberculous otitis media and the role of diagnostic tests, with the aim of formulating criteria for the diagnosis. METHODS: A total of 502 patients underwent tympanomastoidectomy over a two-year period...
July 20, 2017: Journal of Laryngology and Otology
https://www.readbyqxmd.com/read/28724246/health-consequences-of-electric-lighting-practices-in-the-modern-world-a-report-on-the-national-toxicology-program-s-workshop-on-shift-work-at-night-artificial-light-at-night-and-circadian-disruption
#14
REVIEW
Ruth M Lunn, David E Blask, Andrew N Coogan, Mariana G Figueiro, Michael R Gorman, Janet E Hall, Johnni Hansen, Randy J Nelson, Satchidananda Panda, Michael H Smolensky, Richard G Stevens, Fred W Turek, Roel Vermeulen, Tania Carreón, Claire C Caruso, Christina C Lawson, Kristina A Thayer, Michael J Twery, Andrew D Ewens, Sanford C Garner, Pamela J Schwingl, Windy A Boyd
The invention of electric light has facilitated a society in which people work, sleep, eat, and play at all hours of the 24-hour day. Although electric light clearly has benefited humankind, exposures to electric light, especially light at night (LAN), may disrupt sleep and biological processes controlled by endogenous circadian clocks, potentially resulting in adverse health outcomes. Many of the studies evaluating adverse health effects have been conducted among night- and rotating-shift workers, because this scenario gives rise to significant exposure to LAN...
July 15, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28723957/brain-synchronization-during-perception-of-facial-emotional-expressions-with-natural-and-unnatural-dynamics
#15
Dionysios Perdikis, Jakob Volhard, Viktor Müller, Kathrin Kaulard, Timothy R Brick, Christian Wallraven, Ulman Lindenberger
Research on the perception of facial emotional expressions (FEEs) often uses static images that do not capture the dynamic character of social coordination in natural settings. Recent behavioral and neuroimaging studies suggest that dynamic FEEs (videos or morphs) enhance emotion perception. To identify mechanisms associated with the perception of FEEs with natural dynamics, the present EEG (Electroencephalography)study compared (i) ecologically valid stimuli of angry and happy FEEs with natural dynamics to (ii) FEEs with unnatural dynamics, and to (iii) static FEEs...
2017: PloS One
https://www.readbyqxmd.com/read/28723859/determinants-of-follow-up-care-for-patients-with-celiac-disease
#16
Margot E Cohen, Ariel Jaffe, Carolyn B Strauch, Suzanne K Lewis, Benjamin Lebwohl, Peter H R Green
GOALS: This study aimed to investigate follow-up patterns among celiac disease (CD) patients. BACKGROUND: Gender factors are important in CD with women diagnosed more frequently than men despite equal seropositivity in screening studies. To determine if gender influences postdiagnosis care, we performed a retrospective cohort study investigating the impact of gender and mode of presentation on follow-up patterns after diagnosis. STUDY: The study included adults with biopsy-proven CD presenting to a single tertiary care center between 2005 and 2014...
July 18, 2017: Journal of Clinical Gastroenterology
https://www.readbyqxmd.com/read/28723771/malignant-melanoma-misdiagnosed-as-diabetic-foot-ulcer-a-case-report
#17
Wei Gao, Dawei Chen, Xingwu Ran
RATIONALE: Acral lentiginous melanoma (AML) does not exhibit the classic signs of malignant melanoma. ALM is frequently misdiagnosed because of its unusual sites and atypical clinical morphologies, which lead to poor prognosis. PATIENT CONCERNS: A female patient aged 78 years was presented to our center with two ulcers on her right foot. Diabetic foot ulcer was considered as the primary diagnosis. The ulcers failed to improve after 2 weeks' therapy. DIAGNOSES: An incisional biopsy of the lesion revealed malignant melanoma...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28723741/characterization-of-small-%C3%A2-3%C3%A2-cm-hepatic-lesions-with-atypical-enhancement-feature-and-hypointensity-in-hepatobiliary-phase-of-gadoxetic-acid-enhanced-mri-in-cirrhosis-a-stard-compliant-article
#18
Seung Kak Shin, Yun Soo Kim, Seung Joon Choi, Young Sup Shim, Dong Hae Jung, Oh Sang Kwon, Duck Joo Choi, Ju Hyun Kim
It is difficult to characterize the nodular lesions in cirrhotic liver if typical enhancement pattern is not present on dynamic contrast-enhanced imagings. Although the signal intensity of the hepatobiliary phase in gadoxetic acid-enhanced magnetic resonance imaging (MRI) is helpful for characterization of the lesions, some dysplastic nodules may also exhibit low signal intensity in the hepatobiliary phase. We aimed to assess the usefulness of gadoxetic acid (Gd-EOB-DTPA)-enhanced MRI including diffusion-weighted imaging (DWI) for differentiation between atypical small hepatocellular carcinomas (HCCs) and dysplastic nodules showing low signal intensity (SI) in the hepatobiliary phase, and to evaluate the MRI findings in determining the histological grade of atypical HCCs in patients with cirrhosis...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28722703/deep-intronic-hotspot-variant-unraveling-rhabdoid-tumor-predisposition-syndrome-in-two-patients-with-atypical-teratoid-and-rhabdoid-tumor
#19
Arnault Tauziède-Espariat, Julien Masliah-Planchon, Laurence Brugières, Stéphanie Puget, Christelle Dufour, Pascale Schneider, Annie Laquerrière, Thierry Frebourg, Damien Bodet, Emmanuèle Lechapt-Zalcman, Gaëlle Pierron, Olivier Delattre, Pascale Varlet, Franck Bourdeaut
About one third of patients with rhabdoid tumors (RT) harbor a heterozygous germline variant in SMARCB1. Molecular diagnosis therefore keeps a crucial place in the diagnosis of RT, and genetic counseling should be systematically recommended. However, immunohistochemistry has progressively replaced molecular tools to assess the status of SMARCB1 in tumors; the necessity of analyzing SMARCB1 status in the tumor may thus be less considered by neuropathologists and pediatric neuro-oncologists. In the present manuscript as aforementioned, we report on two patients with bifocal RT in the first month of life and in whom no germline variant was initially found in the SMARCB1 coding sequence...
July 19, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28722367/-next-generation-sequencing-a-diagnostic-tool-for-inherited-immune-defects
#20
Stéphanie Droz-Georget, Orbicia Riccio, Béryl Royer-Bertrand, Andrea Superti-Furga, Fabio Candotti
Establishing the definitive diagnosis in the case of inherited immune defects (IID) is often challenging because the clinical features can be heterogeneous, atypical and overlapping different disease entities. The next generation sequencing technology (NGS) allows identifying genetic variants that are responsible for the observed clinical presentations. The use of NGS applied to the genes mutated in IIDs or known to be involved in the development, differentiation and regulation of the immune system allows to target hundreds of relevant genes in well characterized patients suspected of carrying inherited immune defects...
April 5, 2017: Revue Médicale Suisse
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