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Katharina Wimmer, Thorsten Rosenbaum, Ludwine Messiaen
Constitutional mismatch repair (MMR) deficiency (CMMRD) is a rare childhood cancer susceptibility syndrome resulting from biallelic germline loss-of-function mutations in one of the MMR genes. Individuals with CMMRD have a high risk to develop a broad spectrum of malignancies and frequently display features reminiscent of neurofibromatosis type 1 (NF1). Evaluation of the clinical findings of genetically proven CMMRD patients shows that not only multiple café-au-lait macules but any of the diagnostic features of NF1 may be present in a CMMRD patient...
October 25, 2016: Clinical Genetics
Eiji Matsuura, Yoshimi Enose-Akahata, Karen Yao, Unsong Oh, Yuetsu Tanaka, Hiroshi Takashima, Steven Jacobson
Pathology of HTLV-1 associated myelopathy/Tropical spastic paraparesis (HAM/TSP) is believed to be the result of "bystander damage" involving effector CD8 (+) T lymphocytes (CTLs) killing of virus infected cells. But the specific cellular events leading up to tissue injury are still unclear. Here, we developed the Microscopy Imaging of Cytotoxic T lymphocyte assay with Fluorescence emission (MI-CaFé), an optimized visualization analysis to explore the interactions between CTLs and virus infected or viral antigen presenting target cells...
October 3, 2016: Journal of Neuroimmunology
Fayyaz Ul Amir Afsar Minhas, Amina Asif, Muhammad Arif
: Feature selection and ranking is of great importance in the analysis of biomedical data. In addition to reducing the number of features used in classification or other machine learning tasks, it allows us to extract meaningful biological and medical information from a machine learning model. Most existing approaches in this domain do not directly model the fact that the relative importance of features can be different in different regions of the feature space. In this work, we present a context aware feature ranking algorithm called CAFÉ-Map...
October 11, 2016: Computers in Biology and Medicine
Cecília C Café-Mendes, Luana L Righi, Jamile Calil-Silveira, Maria Tereza Nunes, Fernando Abdulkader
In international surveys, Brazilian students have been consistently ranking low in science. Continuing education for secondary school teachers is certainly a way to change this situation. To update teachers and provide teaching and learning experiences for graduate students, our department organized a "Winter Course in Physiology" where schoolteachers had the opportunity to attend lectures that were offered by graduate students and participate in discussions on teaching and learning strategies and their applicability, considering different schools and student age groups...
December 2016: Advances in Physiology Education
Abdi Mohammed, Alemayehu Chala, Mashilla Dejene, Chemeda Fininsa, David A Hoisington, Victor S Sobolev, Renee S Arias
This study was conducted to assess major Aspergillus species and aflatoxins associated with groundnut seeds and cake in Eastern Ethiopia and evaluate growers' management practices. A total of 160 groundnut seed samples from farmers' stores and 50 groundnut cake samples from cafe and restaurants were collected. Fungal isolation was done from groundnut seed samples. Aspergillus flavus was the dominant species followed by Aspergillus parasiticus. Aflatoxin analyses of groundnut seed samples were performed using ultra performance liquid chromatography; 22...
December 2016: Food Additives & Contaminants. Part B, Surveillance
Sunil Tripathi, C B Pandey, T N Dubey, Priyanka Singh
Von Recklinghausen's neurofibromatosis (NF-1) is a phacomatosis characterised by widespread nervous system tumours with cutaneous manifestations and variably associated anomalies. We report here a case, who, in addition to classical features of NF-1 (café-au-lait spots, cutaneous and subcutaneous neurofibromas) demonstrated radiological evidence of both spinal and intracranial neurofibromas and an incidentally discovered horse-shoe kidney. The unique constellation of spinal and intracranial neurofibromas, with associated horse-shoe kidney...
February 2016: Journal of the Association of Physicians of India
M Victoria Salgado, Raúl M Mejía, Celia P Kaplan, Eliseo J Pérez-Stable
BACKGROUND: Physicians in Argentina smoke at rates similar to the general population, and do not have a clear role in tobacco control strategies. OBJECTIVE: To describe the attitudes and knowledge of medical students and recent graduates towards smoking behavior in Argentina. DESIGN: Cross-sectional self-administered online survey conducted in 2011. PARTICIPANTS: Medical students and recent medical graduates from the University of Buenos Aires...
October 11, 2016: Journal of General Internal Medicine
Yoshiaki Shimada, Masayuki Horiguchi
We report a case of a 38-year-old man who presented with a recently self-detected lump under his left eyebrow. Previous ophthalmological history was unremarkable except for unilateral high myopia (left eye) since childhood. The appearance of the left eye was seemingly normal; however, with the top lid pulled up on downward gaze, a dark brown bulge emerged. The bulge was 10 × 7 mm and approximately 4 mm in height, and was covered by the extended superior rectus muscle. The diagnosis of equatorial staphyloma was made after coronal T1-weighted magnetic resonance imaging of the orbit revealed the dilatation of the vitreous cavity...
May 2016: Case Reports in Ophthalmology
A Durazzo, O Boccara, S Fraitag, T Fusade, A Picard, N Kadlub
INTRODUCTION: "Café au lait" spots (CLS) are pigmented skin lesions principally located at the trunk and the limbs. Histologically, CLSs consist in an excessive pigmentation of the epidermis, with no risk of malignant transformation. The "kissing" nevus is a rare pigmented congenital nevus affecting both lower and upper eyelids in a mirror layout. As other nevi, it presents a theoretical risk of malignant transformation. These two pigmented lesions are responsible for aesthetic discomfort when affecting the face...
October 4, 2016: Revue de Stomatologie, de Chirurgie Maxillo-faciale et de Chirurgie Orale
Catherine Cassiman, Ingele Casteels, Julie Jacob, Ellen Plasschaert, Hilde Brems, Kathia Dubron, Karel Van Keer, Eric Legius
The best known café-au-lait syndrome is neurofibromatosis type 1 (NF1). Legius syndrome (LS) is another, rarer syndrome with café-au-lait macules (CALMs). In young patients their clinical picture is often indistinguishable. We investigated the presence of choroidal abnormalities in syndromes with CALMs as a candidate tool for a more efficient diagnosis. 34 patients with NF1 (14 with a truncating mutation, 14 with a non-truncating mutation and 6 with unknown mutation) and 11 patients with LS. All patients underwent an ophthalmological examination...
September 22, 2016: Clinical Genetics
Thanigaimalai Pillaiyar, Manoj Manickam, Sang-Hun Jung
Melanin, primarily responsible in humans for hair, eye and skin pigmentation, is produced by melanocytes through a process called melanogenesis. However, the abnormal accumulation of melanin causes dermatological problems such as café-au-lait macules ephelides (freckles), solar lentigo (age spots) and melasma, as well as cancer and vitiligo. Hence the regulation of melanogenesis is very important for treating hyperpigmentary disorders. Numerous antimelanogenic agents that target tyrosinase activity and/or stability, melanosome maturation, transfer and trafficking, or melanogenesis-related signaling pathways have been developed...
September 28, 2016: Drug Discovery Today
Zuh-Kyung Seong, Sung-Yoon Lee, Amrit Poudel, Sei-Ryang Oh, Hyeong-Kyu Lee
Melanin plays an important role in protecting the skin against ultraviolet light and is responsible for skin color. However, overproduction of melanin is related to several skin disorders, such as age spots, freckles, café au lait spots, Becker's nevus and other hyperpigmentation syndromes. The aim of this study was to identify the effects of kaempferol-7-O-β-d-glucuronide (K7G) and tilianin, isolated from Cryptotaenia japonica, on melanogenesis and their mechanisms of action in murine B16 melanoma cells...
2016: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
Anne MacFarlane, Rose Galvin, Madeleine O'Sullivan, Chris McInerney, Eoghan Meagher, Daniel Burke, Joseph W LeMaster
BACKGROUND: There are increasing imperatives for patients and members of the public to engage as partners in identifying health research priorities. The use of participatory methods to engage stakeholders in health care in research prioritization is not commonly reported. OBJECTIVE: This article analyses the use of World Cafés as a participatory method for research prioritization with marginalized communities in Ireland and the USA. METHODS: The principles of purposeful and snowball sampling were followed in both settings and a diverse range of community and health care stakeholders participated (n = 63 Ireland and n = 55 USA)...
September 27, 2016: Family Practice
Fatma Mujgan Sonmez, Eyyup Uctepe, Mehmet Gunduz, Zeliha Gormez, Seval Erpolat, Murat Oznur, Mahmut Samil Sagiroglu, Huseyin Demirci, Esra Gunduz
Coffin-Siris syndrome (CSS) (MIM 135900) is characterized by developmental delay, severe speech impairment, distinctive facial features, hypertrichosis, aplasia or hypoplasia of the distal phalanx or nail of the fifth digit and agenesis of the corpus callosum. Recently, it was shown that mutations in the ARID1B gene are the main cause of CSS, accounting for 76% of identified mutations. Here, we report a 15 year-old female patient who was admitted to our clinic with seizures, speech problems, dysmorphic features, bilaterally big, large thumb, café-au-lait (CAL) spots, obesity and hyperinsulinism...
August 2016: Intractable & Rare Diseases Research
DaeHyun Kim, Hidenori Arai, SungHi Kim
AIM: Social activity seems to be important for the prevention of cognitive impairment and frailty. The objective of the present study was to investigate whether social activities are associated with the development of cognitive impairment in Korean older people. METHODS: We analyzed data from the Korean National Longitudinal Study on Aging. A total of 2495 Korean community-dwelling older adults (1163 men and 1332 women) aged between 65 and 79 years at the first wave of the Korean National Longitudinal Study on Aging were used for analysis...
September 26, 2016: Geriatrics & Gerontology International
Jia Zhang, Ming Li, Zhirong Yao
Multiple café-au-lait macules (CALM) are usually associated with neurofibromatosis type 1 (NF1), one of the most common hereditary disorders. However, a group of genetic disorders presenting with CALM have mutations that are involved in human skin pigmentation regulation signaling pathways, including KIT ligand/KIT proto‑oncogene receptor tyrosine kinase and Ras/mitogen‑activated protein kinase. These disorders, which include Legius syndrome, Noonan syndrome with multiple lentigines or LEOPARD syndrome, and familial progressive hyperpigmentation) are difficult to distinguish from NF1 at early stages, using skin appearance alone...
September 22, 2016: Molecular Medicine Reports
J Zhang, R Cheng, J Liang, C Ni, M Li, Z Yao
Pathogenic mutations in genes (SASH1 and PTPN11) can cause a rare genetic disorder associated with pigmentation defects and the well-known LEOPARD syndrome, respectively. Both conditions presented with lentiginous phenotypes. The aim of this study was to arrive at definite diagnoses of three Chinese boys with clinically suspected lentigines-related syndromes. ADAR1, ABCB6, SASH1 and PTPN11 were candidate genes for mutational screening. Sanger sequencing was performed to identify the mutations, whereas bioinformatic analysis was used to predict the pathogenicity of novel missense mutations...
October 2016: Clinical Genetics
Bas C J Majoor, Natasha M Appelman-Dijkstra, M Fiocco, Michiel A J van de Sande, P D Sander Dijkstra, Neveen A T Hamdy
INTRODUCTION: McCune-Albright syndrome (MAS) is a rare bone disorder characterized by fibrous dysplasia (FD), endocrinopathies and café-au-lait patches. FD patients have been shown to respond favourably to treatment with bisphosphonates, but data are scarce in the more severe polyostotic form (PFD), including MAS, and factors determining treatment outcome are not known, particularly in the long-term. METHODS: We evaluated the biochemical (bone turnover markers; BTMs) and clinical (pain reduction) outcome of bisphosphonate therapy in eleven patients with MAS and 30 patients with PFD: median duration of treatment 6 years (range 2-25)...
September 20, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
Guangyu Robert Yang, John D Murray, Xiao-Jing Wang
While reading a book in a noisy café, how does your brain 'gate in' visual information while filtering out auditory stimuli? Here we propose a mechanism for such flexible routing of information flow in a complex brain network (pathway-specific gating), tested using a network model of pyramidal neurons and three classes of interneurons with connection probabilities constrained by data. We find that if inputs from different pathways cluster on a pyramidal neuron dendrite, a pathway can be gated-on by a disinhibitory circuit motif...
September 20, 2016: Nature Communications
Mo-Kyung Sin, Il-Ho Kim
BACKGROUND: Gastric cancer is the most highly prevalent cancer among Korean Americans, occurring at a higher rate than among other Asian Americans and non-Latino Whites. However, little is known about the culturally specific barriers to gastric cancer screening among Korean Americans. OBJECTIVE: The aim of this study was to explore facilitators of and barriers to gastric cancer screening among Korean Americans. METHODS: In this qualitative focus group study, a convenience sample of 50 Korean Americans aged 21 to 75 years was recruited from the Puget Sound area of Washington with the assistance of Korean churches...
September 15, 2016: Cancer Nursing
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