Results 61 to 70 of about 544,097 (312)

Genetic Study In a Pakistani Family Reveals Autosomal Recessive Type of Artemis Deficiency

Journal of Rawalpindi Medical College
Objective: To perform clinical and genetic investigations in two patients suffering from Artemis deficiency with total deficiency of T-B- lymphocytes. Methods: We enrolled a Pakistani family with one male patient suffering from Severe Combined Immune ...
Saddaf Ayub, Abeerah Zainub, Nida Shafi, Zara Khalid Khan, Lubna Siddique, Syed Irfan Raza   +5 more
doaj   +1 more source

Genetic testing for Alpha1-antitrypsin deficiency [PDF]

Genetics in Medicine, 2004
The Alpha Coded Testing Study investigated the risks, benefits, and psychological impact of home genetic testing for alpha1-antitrypsin deficiency.In the study, 996 adult individuals requested and returned a home-administered, confidential, fingerstick blood test.Individuals highly rated the benefits of establishing a diagnosis (82%), helping family ...
Charlie, Strange, Ryan, Dickson, Cindy, Carter, Matthew J, Carpenter, Brian, Holladay, Ryan, Lundquist, Mark L, Brantly   +6 more
openaire   +2 more sources

Increased Risk of Sarcomas in Children With Congenital Anomalies: Findings From the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Registry Linkage Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Pediatric sarcomas are a heterogeneous group of tumors that contribute disproportionately to cancer mortality in children. Although congenital anomalies are among the strongest known risk factors for childhood cancer, the risk of specific sarcoma subtypes among affected individuals has not yet been thoroughly evaluated. Procedure We
Russ Wolters, Ji Yun Tark, Tiffany M. Chambers, Tania A. Desrosiers, Michael E. Scheurer, Charles Shumate, Wendy N. Nembhard, Mahsa M. Yazdy, Eirini Nestoridi, Amanda E. Janitz, Jean Paul Tanner, Russell S. Kirby, Jason L. Salemi, Yao Yu, Chad D. Huff, Sharon E. Plon, Philip J. Lupo, Jeremy M. Schraw   +17 more
wiley   +1 more source

Temporary nutrient deficiency - a difficult case for diagnosis and prognosis by plant analysis

, 2000
Plant analysis aims to either detect deficiency at the time of sampling (diagnosis) or predict its occurrence at a later stage of growth (prognosis). Its use is based on the presumption that the plant nutrient status will either be constant with plant ...
Richard W. Bell, Bell, R.W.
core   +1 more source

Development of an interpretable machine learning model associated with genetic indicators to identify Yin-deficiency constitution

Chinese Medicine
Background Traditional Chinese Medicine (TCM) defines constitutions which are relevant to corresponding diseases among people. As one of the common constitutions, Yin-deficiency constitution influences a number of Chinese population in the disease onset.
Jing Li, Yingying Zhai, Yanqi Cao, Yifan Xia, Ruoxi Yu   +4 more
doaj   +1 more source

Efficacy and Safety Analysis of Roxarestat in Regulating Renal Anemia in Patients on Maintenance Hemodialysis

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Objective To compare the efficacy and safety of roxarestat versus recombinant human erythropoietin (rhEPO) in the management of renal anemia in patients undergoing maintenance hemodialysis. Methods This was a prospective, open‐label, randomized controlled trial.
Lingling Chen, Junjie Zhu, Qiaonan Ge
wiley   +1 more source

Infection Control Practices for Vascular Access Management in Hemodialysis: Results From a Nationwide Survey of Japanese National University Hospitals

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Bloodstream infections due to repeated vascular access (VA) puncture and circuit connections remain major concerns in hemodialysis. Therefore, we examined current practices for glove, disinfectant, and personal protective equipment (PPE) use according to VA type in national university hospitals in Japan.
Aiko Yamada, Makoto Harada, Tadahiko Kikugawa, Takeshi Nakata, Koji Hashimoto, Tsuneo Konta, Yuji Kamijo   +6 more
wiley   +1 more source

Molecular epidemiological characteristics, variant spectrum and genotype-phenotype correlation of glucose-6-phosphate dehydrogenase deficiency in China: A population-based multicenter study using newborn screening.

PLoS ONE
Background and aimsNewborn screening (NBS) for glucose-6-phosphate dehydrogenase (G6PD) deficiency by biochemical tests is being used worldwide, however, the outcomes arising from combined genetic and biochemical tests have not been evaluated.
Minyi Tan, Xiulian Liu, Yinhong Zhang, Yifan Yin, Ting Chen, Yulin Li, Lulu Feng, Bo Zhu, Chunjing Xu, Chengfang Tang, Meng Sun, Liyun Jia, Weiwei Jin, Chunna Fan, Hui Huang, Xiaohua Wang, Jizhen Feng, Hui Zou, Lianshu Han, Jingkun Miao, Baosheng Zhu, Cidan Huang, Yonglan Huang   +22 more
doaj   +1 more source

Therapeutic Apheresis in Nigeria: A Multi‐Center Summary of Abstracts From the Inaugural Nigerian Society for Apheresis Scientific Meeting

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background Therapeutic apheresis (TA) is an established treatment modality for hematologic, neurologic, and immunologic disorders, yet access remains severely limited in sub‐Saharan Africa. Donor apheresis, including platelet apheresis collection from healthy donors, represents an important complementary modality supporting blood product ...
Nosa Bazuaye, Chimezie Okwuonu, Evelyn Idam, Folasade Adelekan‐Popoola, Shakirat Gold‐Olufadi, Olufunto Olufela Kalejaiye, Abdullateef Ogala, Zinnah Aloziem, Blossom Amamchukwu, Patience Elimia, Mkpoikanabasi Obot‐Obot, Henry Mbakwe, Praises Maduagwuna, Olatunji Akinrodoye, Chiamaka Anyanwu, Benjamin Anyanwu, Adedamola Akinsiku, Oluwatoyin A. Akinsiku, Muzamil O. Hassan, Fatiu A. Arogundade, Olalekan E. Ojo, Homayemem Weli, Jesupelumi Adenihun, Aderemi Adelaja, Ebun Bamgboye, Olalekan Olatise, Ade E. Faponle, Ayoola Odeyemi, Michael Muoka, Stephen Asaolu, Qudrat Busari, Blessing Dawudu, Michael Naiyeju, Rasheed A. Balogun   +33 more
wiley   +1 more source

Low iron mitigates viral survival: insights from evolution, genetics, and pandemics—a review of current hypothesis

Egyptian Journal of Medical Human Genetics, 2020
Background Upon re-examination of our human history, evolutionary perspectives, and genetics, a prevailing iron deficiency phenotype appears to have evolved to protect the human race from extinction. Body In this review, we summarize the evolutionary and
Rahma Menshawey, Esraa Menshawey, Ayman H. K. Alserr, Antoine Fakhry Abdelmassih   +3 more
doaj   +1 more source