Results 41 to 50 of about 604,020 (263)

Riley-Day Syndrome in a Hispanic Infant of Non-Jewish Ashkenazi Descent [PDF]

Journal of Clinical and Diagnostic Research, 2017
Riley-Day syndrome is an autosomal recessive sensory and autonomic neuropathy. Patients present a lack of fungiform papilla, alacrima and usually feeding difficulties.
Abel Ramírez-Estudillo, Gerardo González-Saldivar, Itzel Espinosa-Soto, Jesús González-Cortez, Alejandro Salcido-Montenegro   +4 more
doaj   +1 more source

Aetiology of MDS: With a Focus on Hereditary Predisposition

Hemato, 2021
Myelodysplastic syndromes affect an older age group with a median age at onset in the eighth decade of life. As such, there is a relationship between the pathogenesis of MDS and age-related processes affecting haematopoietic stem/progenitor cells and/or ...
Anjum B. Khan, David Bowen
doaj   +1 more source

Impact of Radiation Therapy on Physical and Psychosocial Health of Adolescents and Young Adults: A Joint Report From the Children's Oncology Group AYA and Radiation Oncology Committees

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Rates of cancer among adolescents and young adults (AYA), age 15–39 years, are increasing. Consequently, radiation oncologists are treating more AYAs who have diagnoses spanning both pediatric and adult practices. Compared to pediatric and older adult patients, AYAs face a unique set of challenges.
Hesham Elhalawani, Rachel K. Peterson, Avani D. Rao, Laurie J. McKenzie, Ahmed Magdy Elmotayam, Leslie Chang, Michael Roth, Susan L. McGovern   +7 more
wiley   +1 more source

A large pericardial effusion and bilateral pleural effusions as the initial manifestations of Familial Mediterranean Fever [PDF]

, 2015
Familial Mediterranean Fever (FMF) is a condition characterized by recurrent febrile poly-serositis. Typical presentations of the disease include episodes of fever, abdominal pain and joint pains. Chest pain is a less common presentation.
Mallia, Carmel, Mifsud, Simon, Cassar Demarco, Daniela, Coleiro, Bernard, Schembri, Emma Louise   +4 more
core  

A new model of care for familial hypercholesterolaemia: What is the role of cardiology?

, 2012
Familial hypercholesterolaemia (FH) is a co-dominantly inherited disorder that causes marked elevation in plasma cholesterol and premature coronary heart disease.
Clifton, P., Watts, G., van Bockxmeer, Frank M, Sullivan, David R, George, Peter M, Poplawski, N., Bishop, W., Semsarian, Christopher, Tonkin, Andrew, Semsarian, C., O'Brien, Richard C, O'Brien, R., Hamilton-Craig, I., Sullivan, D., van Bockxmeer, F., Tonkin, A., Hamilton-Craig, Ian, Clifton, Peter M, Watts, Gerald F, Bishop, Warrick, Poplawski, Nicola, George, P.   +21 more
core   +1 more source

Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2 [PDF]

, 2010
Context: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder as a result of mutation in genes encoding either the ACTH receptor [melanocortin 2 receptor (MC2R)] or its accessory protein [melanocortin 2 receptor accessory ...
Metherell, LA, Chung, TTLL, Clark, AJ, Chung, TT, Chan, LF, Clark, AJL   +5 more
core   +1 more source

Social Functioning Within the First Years After Pediatric Brain Tumor Diagnosis and the Relationship With Family Psychosocial Risk

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Survivors of pediatric brain tumors (PBTs) can experience long‐term social difficulties, impacting quality of life. Beyond medical and environmental factors, family psychosocial risk may play a role in social outcomes by shaping the caregiving environment and may provide intervention options.
Renske H. Houben, Marisa H. Huisman, Martha A. Grootenhuis, Femke K. Aarsen, Marita Partanen   +4 more
wiley   +1 more source

How do index patients participating in genetic screening programmes for familial hypercholesterolemia (FH) interpret their DNA results?:A UK-based qualitative interview study [PDF]

, 2011
OBJECTIVE: To explore patients' interpretations of their DNA results for familial hypercholesterolemia (FH). METHODS: In-depth interviews were conducted with patients from two lipid clinics in Scotland, who were offered genetic testing as part of a ...
Jenkins, Nick, Lawton, Julia, Douglas, Margaret, Walker, Simon, Hallowell, Nina, Finnie, Robert, Porteous, Mary   +6 more
core   +1 more source

Multiple familial trichoepitheliomas presenting as leonine facies

Indian Dermatology Online Journal, 2017
Trichoepithelioma is a benign tumor of follicular unit. It has been rarely described as the cause of leonine facies. We are presenting a classical case of multiple familial trichoepitheliomas (MFTs) with characteristic histopathological features leading ...
Sanjay Singh, Prateek Sondhi, Deepika Yadav, Savita Yadav   +3 more
doaj   +1 more source

Vécu quotidien des personnes de troisième âge dans leur environnement familial et communautaire

Revue des Sciences de la Santé, 2023
L’objectif général de cette étude est de comprendre le vécu des personnes de troisième âge dans leur environnement familial et communautaire dans le quartier MANGENGENGE dans la commune de N’sele.
Benjamin TSHIABA KABITANGAGA, Matthieu KAWULU NDAYE, Emmanuel MUKOMA KANKU, Peter NTAMBUE MULAMBA, Léonard TSHIABA MUKA, Agnès MILOLO KUINJIDI, Erick NDAYE MUAMBA, Augustin TSHITADI MAKANGU   +7 more
doaj   +1 more source