Results 71 to 80 of about 37,714 (305)

Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness

, 2014
We examined a Korean family with complex phenotypes characterized by intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.
Jeong, SY, Hyun-Seok Jin, Shin-Young Yim, Seon-Yong Jeong, Kyung Kim, Ki-Young Lee, Lee, JB, Jong-Bin Lee, Jin, HS, Choi, VN, Lee, KY, Kim, JS, Vit-Na Choi, Jong-Soo Kim, Yim, SY, Kim, K   +15 more
core   +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

Isolated Shoulder Weakness as a Manifestation of Acute Ischemic Stroke: A Rare Presentation

Neurology India
There is somatotopic organization of body in motor and sensory cortex of brain. Distal parts of a limb have a much larger area of presentation as compared to proximal parts. So, isolated distal hand muscle weakness as a manifestation of stroke is not so uncommon, but isolated shoulder muscle weakness as a manifestation of stroke is very rare.
Tanu, Arora, S Sakthi, Velayutham, P R, Sowmini, K, Mugundhan   +3 more
openaire   +2 more sources

Various manifestations of weak magnetism and superconductivity in inclination interfaces of Bi, Sb and Bi1-xSbx

The Moldavian Journal of the Physical Sciences, 2022
The magnetic properties of the nano-width bicrystal interfaces (CIs) of Bi, Sb and 3D topological insulator Bi1xSbx (0.06 ≤ x ≤ 0.2) are studied in a temperature range of 1.6–300 K. These materials do not show superconductivity under normal rhombohedral conditions and are anomalous diamagnetics.
Muntyanu Fiodor M., Nenkov Konstantin A., Zaleski Andrzej Janusz, Condrea Elena, Chistol Vitalie   +4 more
openaire   +1 more source

Prognosis of Long‐Term Continuous Renal Replacement Therapy and the Impact of Combined Continuous Intravenous Sodium Infusion Therapy

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Patients requiring long‐term continuous renal replacement therapy (CRRT) generally have poor prognoses. This study evaluated whether adding continuous intravenous sodium infusion (cIVNa) is associated with improved hemodynamics and outcomes in patients undergoing long‐term CRRT for ≥ 7 days.
Akinori Yamaguchi, Atsuyoshi Mita, Kosuke Sonoda, Makoto Harada, Koji Hashimoto, Hiroshi Imamura, Yuji Kamijo   +6 more
wiley   +1 more source

The role of the ministry of labor in protecting labor rights and equality in authorizing justifiable dismissal for individuals with health protection [PDF]

, 2023
Los Derechos al Trabajo y a la Igualdad como ejes de la Constitución Política de Colombia deben ser respetados y a toda luz protegidos por el Estado Social de Derecho.
Duran Tellez, Diego Felipe
core  

Lumbar Spinal Stenosis: A Rare Presentation of Hereditary Transthyretin Amyloidosis

, 2022
Hereditary transthyretin amyloidosis (hATTR) is caused by the mutations of the transthyretin (TTR) gene. Length dependent sensory-motor neuropathy with autonomic involvement is the hallmark of the disease. However, it can manifest with unusual phenotypes.
Atmaca, Murat Mert, Durmus, Hacer, Cakar, Arman, Oflazer, Piraye, Parman, Yesim, Kotan, Dilcan, Deymeer, Feza   +6 more
core   +1 more source

Limb girdle muscular dystrophies [PDF]

, 2020
Limb girdle muscular dystrophies (LGMD) encompass inherited muscle disorders that are named after the distribution of muscle weakness. They manifest with symmetrical and progressive weakness of the limb girdle muscle groups – muscles of the hip/thigh and
ten Dam, L., ten Dam, Leroy
core   +1 more source

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

Primary Adenosine Monophosphate (AMP) Deaminase Deficiency in a Hypotonic Infant

, 2011
The spectrum of the adenosine monophosphate (AMP) deaminase deficiency ranges from asymptomatic carriers to patients who manifest exercise-induced muscle pain, occasionally rhabdomyolysis, and idiopathic hyperCKemia.
Elena Pintos Martínez, Carmen Gómez-Lado, Manuel Castro-Gago, Jesús Eirís-Puñal, Inés García-Consuegra, Miguel Angel Martín, Laura Pérez-Gay   +6 more
core   +1 more source