Results 81 to 90 of about 199,361 (374)

A case report of PGAP2-related hyperphosphatasia with impaired intellectual development syndrome in a Chinese family and literature review

Frontiers in Pediatrics
Recently, mutations have been identified in six genes (PIGA, PIGY, PIGO, PGAP2, PIGW and PGAP3) encoding proteins in the Glycosyl phosphatidylinositol(GPI)-anchor-synthesis pathway in individuals with hyperphosphatasia with impaired intellectual ...
Yijun Pan, Bin Ren, Lijuan Chen, Qiang Li   +3 more
doaj   +1 more source

Clinical applications of next‐generation sequencing‐based ctDNA analyses in breast cancer: defining treatment targets and dynamic changes during disease progression

Molecular Oncology, EarlyView.
Circulating tumor DNA (ctDNA) offers a possibility for different applications in early and late stage breast cancer management. In early breast cancer tumor informed approaches are increasingly used for detecting molecular residual disease (MRD) and early recurrence. In advanced stage, ctDNA provides a possibility for monitoring disease progression and
Eva Valentina Klocker, Samantha Hasenleithner, Rupert Bartsch, Simon P. Gampenrieder, Daniel Egle, Christian F. Singer, Gabriel Rinnerthaler, Michael Hubalek, Katja Schmitz, Zsuzsanna Bago‐Horvath, Andreas Petzer, Sonja Heibl, Ellen Heitzer, Marija Balic, Michael Gnant   +14 more
wiley   +1 more source

Genetic counselors' scope of practice and challenges in genetic counseling services in Saudi Arabia [PDF]

, 2016
Genetic counseling is an evolving field in Saudi Arabia. In 2015, genetic counseling was recognized as a Master's program by the Saudi Commission for Health Specialties.
Al-Zaidan, Hamad, Balobaid, Ameera, Qari, Alya   +2 more
core   +1 more source

Circulating tumor cells in metastatic breast cancer patients treated with immune checkpoint inhibitors – a biomarker analysis of the ALICE and ICON trials

Molecular Oncology, EarlyView.
In this explorative biomarker analysis, we assessed serial sampling of circulating tumor cells (CTCs) with CellSearch in two randomized trials testing immune checkpoint inhibitors (ICIs) in metastatic breast cancer. Our data demonstrate a prognostic potential of CTCs, most apparent 4 weeks into ICI therapy.
Nikolai Kragøe Andresen, Andreas Hagen Røssevold, Elin Borgen, Cecilie Bendigtsen Schirmer, Bjørnar Gilje, Øystein Garred, Jon Lømo, Marius Stensland, Oddmund Nordgård, Ragnhild Sørum Falk, Randi R. Mathiesen, Hege G. Russnes, Jon Amund Kyte, Bjørn Naume   +13 more
wiley   +1 more source

Psychological Well-Being (PWB) dan Pengambilan Keputusan untuk Mengikuti Konseling Genetika pada Orangtua Anak dengan Talasemia Mayor

Psikologika: Jurnal Pemikiran dan Penelitian Psikologi, 2012
Parents' understanding about psychological well-being could affect their efforts in facing and accepting the children with thalassemia major. Genetic counseling and genetic screening are some attempts made to provide an understanding about this illness ...
Costrie G. Widayanti, Kartika Sari Dewi
doaj   +1 more source

Circulating tumor cells: advancing personalized therapy in small cell lung cancer patients

Molecular Oncology, EarlyView.
Small cell lung cancer (SCLC) is an aggressive form of lung cancer that spreads rapidly to secondary sites such as the brain and liver. Cancer cells circulating in the blood, “circulating tumor cells” (CTCs), have demonstrated prognostic value in SCLC, and evaluating biomarkers on CTCs could guide treatment decisions such as for PARP inhibitors ...
Prajwol Shrestha, Steven Kao, Veronica K. Cheung, Wendy A. Cooper, Nico van Zandwijk, John E. J. Rasko, Dannel Yeo   +6 more
wiley   +1 more source

Speaker and Time-aware Joint Contextual Learning for Dialogue-act Classification in Counselling Conversations [PDF]

arXiv, 2021
The onset of the COVID-19 pandemic has brought the mental health of people under risk. Social counselling has gained remarkable significance in this environment. Unlike general goal-oriented dialogues, a conversation between a patient and a therapist is considerably implicit, though the objective of the conversation is quite apparent.
arxiv  

Alzheimer’s Prevention Initiative Generation Program: Development of an APOE genetic counseling and disclosure process in the context of clinical trials [PDF]

, 2019
IntroductionAs the number of Alzheimer’s disease (AD) prevention studies grows, many individuals will need to learn their genetic and/or biomarker risk for the disease to determine trial eligibility.
Bradbury, Angela, Karlawish, Jason, Kim, Scott Y.H., Langbaum, Jessica B., Langlois, Carolyn M., Liu, Fonda, Reiman, Eric M., Riviere, Marie‐emmanuelle, Roberts, J. Scott, Tariot, Pierre N., Wood, Elisabeth M.   +10 more
core   +1 more source

From genetic counseling to “genomic counseling” [PDF]

Molecular Genetics & Genomic Medicine, 2013
Genetic counseling is “the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease.” Traditionally, this process includes collecting and interpreting the family and medical history, risk assessment, a comprehensive educational process for potential genetic testing ...
openaire   +3 more sources

A comparative study of circulating tumor cell isolation and enumeration technologies in lung cancer

Molecular Oncology, EarlyView.
Lung cancer cells were spiked into donor blood to evaluate the recovery rates of the following circulating tumor cell (CTC) enrichment technologies: CellMag™, EasySep™, RosetteSep™, Parsortix® PR1, and Parsortix® Prototype systems. Each method's advantages and disadvantages are described.
Volga M Saini, Ezgi Oner, Mark P. Ward, Sinead Hurley, Brian David Henderson, Faye Lewis, Stephen P. Finn, Gerard J. Fitzmaurice, John J. O'Leary, Sharon O'Toole, Lorraine O'Driscoll, Kathy Gately   +11 more
wiley   +1 more source