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https://www.readbyqxmd.com/read/28806508/cubic-fluorite-type-cah2-with-a-small-bandgap
#1
Hiroshi Mizoguchi, SangWon Park, Takashi Honda, Kazutaka Ikeda, Toshiya Otomo, Hideo Hosono
A cubic variant of CaH2 adopting a fluorite-type crystal structure was synthesized by cationic substitution with La or Y, yielding the first alkaline earth hydride-based with fluorite-type framework. The material has a bandgap of ∼2.5 eV (greenish yellow in color), which is much smaller than that of orthorhombic PbCl2-type CaH2 (4.4 eV) and is, in fact, the smallest among alkaline or alkaline earth metal hydrides reported to date. Analysis of the density functional theory band structure of cubic-CaH2 indicates that its conduction band minimum is formed mainly by the interaction between the Ca 3d eg orbitals around the crystallographic cavity defined by cubes of H(-) ions...
August 14, 2017: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/28805579/nonmotor-manifestations-of-wilson-s-disease
#2
Samar Biswas, Neelanjana Paul, Shyamal K Das
Wilson disease (WD) is an autosomal genetic disorder characterized by excessive copper deposition initially in liver (hepatic variant) followed by brain (neuropsychiatric variant) and other organs such as cornea and kidney due to defect in biliary copper excretion. Predominant presentations of neuropsychiatric variant are extrapyramidal motor dysfunctions such as dystonias, Parkinsonism, choreoathetosis, tremor, and ataxias. Nonmotor symptoms (NMS) can appear before clinical disease expression and during ongoing disease process...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28805574/nonmotor-symptoms-in-vascular-and-other-secondary-parkinsonism
#3
Oleg S Levin, Achcha Sh Chimagomedova, Natalia A Skripkina, Elena A Lyashenko, Olga V Babkina
Vascular parkinsonism (VP) is a relatively frequent variant of secondary parkinsonism caused by ischemic or hemorrhagic lesions of basal ganglia, midbrain, or their links with frontal cortex. According to different investigations, various forms of cerebrovascular disease cause 1%-15% of parkinsonism cases. Nonmotor symptoms are frequently found in VP and may negatively influence on quality of life. However, nonmotor symptoms such as hallucinations, orthostatic hypotension, REM-sleep behavior disorder, and anosmia are rarely revealed in VP, which may be noted to another diagnosis or mixed pathology...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28804923/hypopigmented-mycosis-fungoides-with-large-cell-transformation-in-a-child
#4
Dinesh Pradhan, Jaroslaw J Jedrych, Jonhan Ho, Oleg E Akilov
Hypopigmented mycosis fungoides (HMF) is the most common variant of mycosis fungoides (MF) in children. Large-cell transformation in HMF has never been reported. Herein we report a case of HMF in an 8-year-old boy who presented with a 6-year history of hypopigmented patches on the bilateral arms, lower back, buttocks, posterior thighs, and lower legs. Biopsy revealed an abnormal CD8(+) epidermotropic T-cell infiltrate consistent with the diagnosis of MF. The T-cell clonality study was positive. The patient was started on narrowband ultraviolet B (NBUVB) phototherapy and topical steroids...
August 14, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28804919/clinical-outcome-and-prognosis-of-young-patients-with-mycosis-fungoides
#5
Pooja Virmani, Laura Levin, Patricia L Myskowski, Eileen Flores, Michael A Marchetti, Anna Skripnik Lucas, Melissa Pulitzer, Steven Horwitz, Tanya Trippett, Alison Moskowitz, Christiane Querfeld
BACKGROUND/OBJECTIVES: Mycosis fungoides (MF) in young patients is rare and may have atypical presentations. There are limited data in these patients. The objective was to determine the clinical outcome and prognosis of young patients with MF. METHODS: A search of our institutional cancer registry database was conducted for patients diagnosed with MF at younger than 30 years of age. RESULTS: Our study included 74 patients (median age at diagnosis 25...
August 14, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28804758/brain-calcifications-and-pcdh12-variants
#6
Gaël Nicolas, Monica Sanchez-Contreras, Eliana Marisa Ramos, Roberta R Lemos, Joana Ferreira, Denis Moura, Maria J Sobrido, Anne-Claire Richard, Alma Rosa Lopez, Andrea Legati, Jean-François Deleuze, Anne Boland, Olivier Quenez, Pierre Krystkowiak, Pascal Favrole, Daniel H Geschwind, Adi Aran, Reeval Segel, Ephrat Levy-Lahad, Dennis W Dickson, Giovanni Coppola, Rosa Rademakers, João R M de Oliveira
OBJECTIVE: To assess the potential connection between PCDH12 and brain calcifications in a patient carrying a homozygous nonsense variant in PCDH12 and in adult patients with brain calcifications. METHODS: We performed a CT scan in 1 child with a homozygous PCDH12 nonsense variant. We screened DNA samples from 53 patients with primary familial brain calcification (PFBC) and 26 patients with brain calcification of unknown cause (BCUC). RESULTS: We identified brain calcifications in subcortical and perithalamic regions in the patient with a homozygous PCDH12 nonsense variant...
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28803920/open-chromatin-profiling-in-hipsc-derived-neurons-prioritizes-functional-noncoding-psychiatric-risk-variants-and-highlights-neurodevelopmental-loci
#7
Marc P Forrest, Hanwen Zhang, Winton Moy, Heather McGowan, Catherine Leites, Leonardo E Dionisio, Zihui Xu, Jianxin Shi, Alan R Sanders, William J Greenleaf, Chad A Cowan, Zhiping P Pang, Pablo V Gejman, Peter Penzes, Jubao Duan
Most disease variants lie within noncoding genomic regions, making their functional interpretation challenging. Because chromatin openness strongly influences transcriptional activity, we hypothesized that cell-type-specific open chromatin regions (OCRs) might highlight disease-relevant noncoding sequences. To investigate, we mapped global OCRs in neurons differentiating from hiPSCs, a cellular model for studying neurodevelopmental disorders such as schizophrenia (SZ). We found that the OCRs are highly dynamic and can stratify GWAS-implicated SZ risk variants...
August 4, 2017: Cell Stem Cell
https://www.readbyqxmd.com/read/28803404/polymorphisms-in-xrcc1-ercc2-and-ercc3-dna-repair-genes-cyp1a1-xenobiotic-metabolism-gene-and-tobacco-are-associated-with-bladder-cancer-susceptibility-in-tunisian-population
#8
Molka Feki-Tounsi, Rim Khlifi, Ibtihel Louati, Mohamed Fourati, Mohamed-Nabil Mhiri, Amel Hamza-Chaffai, Ahmed Rebai
Other than the established environmental risk factors associated with bladder cancer (BC), little is known about the genetic variations determining the individual susceptibility of this complex disease. This study aimed to investigate the relationship of BC with environmental agents and polymorphisms in XRCC1, ERCC2, and ERCC3 DNA repair genes and CYP1A1, CYP2D6, NAT1, and NAT2 xenobiotic metabolism genes through a hospital-based case-control study in Tunisia. The selection of the single nucleotide polymorphisms (SNPs) (rs25487, rs 13181, rs415407, rs446421, rs1058172, rs4921880, and rs1208) was performed using the dbSNP database...
August 12, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28802094/oncocytic-variant-of-medullary-thyroid-carcinoma-a-rare-tumor-with-numerous-diagnostic-mimics-by-fine-needle-aspiration
#9
Sharon B Sams, Kenneth D Tompkins, Sarah Mayson, Christopher D Raeburn, Sanjana Mehrotra
Oncocytic variant of medullary thyroid carcinoma is rare form of thyroid carcinoma that is easily misdiagnosed on fine needle aspiration specimens due to it is low incidence and cytomorphologic overlap with other more common Hurtle cell lesions. A correct initial diagnosis by fine needle aspiration is imperative as the clinical treatment for medullary carcinoma differs significantly from the mimickers. We present a case of this rare variant tumor that on initial fine needle aspiration was described as a Hurthle cell lesion and was subsequently correctly classified on the resection specimen...
August 12, 2017: Diagnostic Cytopathology
https://www.readbyqxmd.com/read/28800746/artery-of-percheron-infarction-a-case-report
#10
Axel Sandvig, Sandra Lundberg, Jiri Neuwirth
BACKGROUND: The artery of Percheron is a rare anatomic variant of arterial supply to the paramedian thalamus and rostral midbrain, and occlusion of the artery of Percheron results in bilateral paramedian thalamic infarcts with or without midbrain involvement. Acute artery of Percheron infarcts represent 0.1 to 2% of total ischemic stroke. However, of thalamic strokes, occlusion of artery of Percheron is the cause in 4 to 35% of cases. Early diagnosis of artery of Percheron infarction can be challenging because it is infrequent and early computed tomography or magnetic resonance imaging may be negative...
August 12, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28800606/whole-exome-sequencing-as-a-diagnostic-tool-for-patients-with-ciliopathy-like-phenotypes
#11
Sheila Castro-Sánchez, María Álvarez-Satta, Mohamed A Tohamy, Sergi Beltran, Sophia Derdak, Diana Valverde
Ciliopathies are a group of rare disorders characterized by a high genetic and phenotypic variability, which complicates their molecular diagnosis. Hence the need to use the latest powerful approaches to faster identify the genetic defect in these patients. We applied whole exome sequencing to six consanguineous families clinically diagnosed with ciliopathy-like disease, and for which mutations in predominant Bardet-Biedl syndrome (BBS) genes had previously been excluded. Our strategy, based on first applying several filters to ciliary variants and using many of the bioinformatics tools available, allowed us to identify causal mutations in BBS2, ALMS1 and CRB1 genes in four families, thus confirming the molecular diagnosis of ciliopathy...
2017: PloS One
https://www.readbyqxmd.com/read/28800579/primary-vaginal-melanoma-with-rhabdoid-features-a-case-report-and-literature-review
#12
Chien-Kuan Lee, Ho Lin, Chi-Feng Su, Victor C Kok
Primary vaginal melanoma is a rare mucosal neoplasm, which is more aggressive than cutaneous melanoma. Information regarding its morphologic patterns is limited. In particular, the rhabdoid phenotype, mostly observed in metastatic or recurrent cutaneous melanomas, has yet to be reported at this anatomic location. Hence, a potential diagnostic difficulty may arise because of the inability to recognize this unusual histologic variant and its immunohistochemical aberrance. In this report, we describe the case of a primary vaginal melanoma in a 62-year-old woman, who exhibited both rhabdoid and small blue round cell morphologies, absence of S100 protein, and aberrant expression of desmin, CD56, and FLI-1...
September 2017: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/28800038/subclinical-rhythmic-eeg-discharge-of-adult-sreda-in-a-child-with-generalized-epilepsy-and-literature-review-of-sreda-in-children
#13
Marcie Goeden, Lalit R Bansal
Subclinical rhythmic discharges of adult (SREDA) is a rare benign EEG variant in adults and is of unknown clinical significance. Its occurrence in children is extremely rare. In review of the literature, it has been described in only four children. We present a case of a 10-year-old female with generalized idiopathic childhood absence epilepsy who is noted to have SREDA in three subsequent EEGs performed across a 25-month span. She had no clinical change with these discharges and it was believed to be a benign variant...
August 9, 2017: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/28799320/artery-of-percheron-infarction-in-a-patient-with-atrial-fibrillation-a-rare-stroke-syndrome
#14
Amey Beedkar, Archana Sonawale
The artery of Percheron uncommon anatomic variant that provides bilateral arterial supply to the paramedian thalami and the rostral midbrain. Occlusion of this artery results in bilateral thalamic and mesencephalic infarctions. The clinical diagnosis is difficult because of the large clinical variability. We report the clinical and MR imaging findings in a patient who developed infarction in the typical distribution of the artery of Percheron.
August 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28798006/breast-adenoid-cystic-carcinoma-a-rare-case-report-and-review-of-the-literature
#15
Lamiae El Amarti, Hanan Raiss, Mohamed Layachi, Salif Baldé, Hamza Ettahri, Ibrahim Elghissassi, Hind Mrabti, Hassan Errihani
BACKGROUND: Primary adenoid cystic carcinoma (ACC) of the breast is a rare subtype of invasive breast cancer. It has a particular interest because of its excellent prognosis conversely to other triple-negative breast cancers that are associated with poor prognosis. The place of chemotherapy and radiotherapy remains controversial and there is no consensus on optimal management of the ACC of the breast. CASE REPORT: A 50-year-old woman, presented with a palpable right breast lump...
May 2017: Gulf Journal of Oncology
https://www.readbyqxmd.com/read/28798004/clear-cell-variant-of-calcifying-epithelial-odontogenic-tumor-a-rare-clinical-entity
#16
Husain Sabir, Subhash Kumbhare, Saurabh Redij, Namrata Gajbhiye
Calcifying epithelial odontogenic tumor (CEOT) is a rare benign odontogenic neoplasm of the jaws. Although clear cells have been reported in approximately 8% of cases of CEOT, the exact nature of these cells in clear cell calcifying epithelial odontogenic tumor (CCEOT) has not been elucidated. Presence of clear cells in CEOT may confer a more aggressive behavior to the lesion and a tendency for recurrence and metastatic spread. We report of a case of CCEOT in a 63 year old female patient which was first treated with enucleation; however recurrence prompted a segmental resection along with coronoid and condyle...
May 2017: Gulf Journal of Oncology
https://www.readbyqxmd.com/read/28798003/neuroendocrine-carcinoma-of-gall-bladder-a-rare-presentation-with-review-of-literature
#17
Amit Gupta, Parvez Ahmed, Prashant Durgapal, Pooja Kala, Shalinee Rao, Rajesh Pasricha, Sanjeev Misra
Neuroendocrine tumors are the rarest tumors of gallbladder. The most aggressive variant is neuroendocrine carcinoma which presents in about 0.5% of all gallbladder carcinomas and 0.2% of all neuroendocrine tumors. It seems possible that survival rates can be improved by utilizing wide surgical resection combined with chemotherapy. We report a case of neuroendocrine carcinoma of gall bladder in a 20-year old female patient. In present case, the etiology was not known as patient did not have cholelithiasis or any symptoms related to chronic inflammation...
May 2017: Gulf Journal of Oncology
https://www.readbyqxmd.com/read/28797981/rhabdoid-meningioma-arising-concurrent-in-pulmonary-and-intracranial-with-a-rare-malignant-clinical-progression-case-report-and-literature-review
#18
Peng Zhao, Ning Li, Jinfeng Cao, Xiangtao Lin, Changhu Liang
BACKGROUND: Rhabdoid meningioma (RM) is an unusual variant of meningioma, classified as WHO grade III. Although its recurrence is common, extracranial metastasis is rare and usually misdiagnosed. The transfer mechanism and pathway are ambiguous; once it develops, there is a poor prognosis and no effective management. The present case is the first report on concurrent intracranial and pulmonary RM with rapid and widespread metastasis. We hope this report can be a helpful reference for clinicians and radiologists...
August 7, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28796803/adaptive-introgression-from-distant-caribbean-islands-contributed-to-the-diversification-of-a-microendemic-adaptive-radiation-of-trophic-specialist-pupfishes
#19
Emilie J Richards, Christopher H Martin
Rapid diversification often involves complex histories of gene flow that leave variable and conflicting signatures of evolutionary relatedness across the genome. Identifying the extent and source of variation in these evolutionary relationships can provide insight into the evolutionary mechanisms involved in rapid radiations. Here we compare the discordant evolutionary relationships associated with species phenotypes across 42 whole genomes from a sympatric adaptive radiation of Cyprinodon pupfishes endemic to San Salvador Island, Bahamas and several outgroup pupfish species in order to understand the rarity of these trophic specialists within the larger radiation of Cyprinodon...
August 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28796320/congenital-cutaneous-lymphadenoma
#20
Angel Fernandez-Flores, Ina Nicklaus-Wollenteit, Dharshini Sathishkumar, Vicky Diba, Bruce Richard, Richard Carr, Celia Moss, Anita Nagy, Malobi Ogboli, Isabel Colmenero
Cutaneous lymphadenoma is an uncommon benign neoplasm often considered to be an adamantinoid variant of trichoblastoma. Lesions present in both sexes, between 14 and 87 years of age, and are mainly located on the head and neck. Cases in children are rare and there is only one previous case of a congenital lymphadenoma. An 8-year-old Asian girl presented with a congenital lesion on her forehead comprising four pink papules, the largest 5 mm in diameter. Microscopy revealed a well circumscribed tumor within the dermis and subcutis comprising well demarcated epithelial lobules of basaloid and clear cells with subtle peripheral palisading, growing in a collagenous stroma but lacking retraction artefact...
August 10, 2017: Journal of Cutaneous Pathology
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