Results 41 to 50 of about 134,584 (262)

Inherited disorders of GABA metabolism [PDF]

Future Neurology, 2006
The inherited disorders of γ-amino butyric acid (GABA) metabolism require an increased index of clinical suspicion. The known genetic disorders are GABA-transaminase deficiency, succinic semialdehyde dehydrogenase (SSADH) deficiency and homocarnosinosis.
Phillip L, Pearl, Thomas R, Hartka, Jessica L, Cabalza, Jacob, Taylor, Michael K, Gibson   +4 more
openaire   +2 more sources

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

FREQUENCY OF INHERITED PLATELE FUNCTION DISORDERS–ARMED FORCES INSTITUTE OF PATHOLOGY EXPERIENCE

Pakistan Armed Forces Medical Journal, 2020
Objective: To determine the frequency and clinical features of inherited platelet function disorders diagnosed at Armed Forces Institute of Pathology. Study Design: Cross sectional study.
Saira Irum, Helen Mary Robert, Asad Mahmood, Rafia Mahmood, Ayesha Khurshid, Mansoor Ishaq   +5 more
doaj   +4 more sources

Association Between Individualized Education for Kidney Replacement Therapy Modality Selection and Peritoneal Dialysis Initiation: A Cross‐Sectional Study

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Peritoneal dialysis (PD) is an established home‐based kidney replacement therapy (KRT), but its uptake remains low in Japan. We evaluated whether individualized education in a dedicated outpatient clinic was associated with the initiation of PD.
Yasuko Ito, Ryuichi Yoshimura, Takaki Yamauchi, Yuta Funakoshi, Hirotaka Sonoda, Seiji Kobayashi, Hiroyuki Terawaki, Takafumi Ito   +7 more
wiley   +1 more source

Effect of DFPP on Ferroptosis in Peripheral Blood CD14+ Monocytes of Hyperlipidemic Patients Involving the ACSL4/LPCAT3/ALOX5 Pathway

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Hyperlipidemia is a major risk factor for atherosclerotic cardiovascular disease (ASCVD). Although statins are the cornerstone of lipid‐lowering therapy, their use may be limited in some patients by adverse effects. This study evaluated the possible impact of non‐drug treatment using double‐filtration plasmapheresis (DFPP) on CD14+
Yun Cheng, Lan Li, Qingmei Yang, Meipeng Wu   +3 more
wiley   +1 more source

The inheritance of Tourette Disorder: A review [PDF]

Journal of Obsessive-Compulsive and Related Disorders, 2014
Georges Gilles de la Tourette, in describing the syndrome that now bears his name, observed that the condition aggregated within families. Over the last three decades, numerous studies have confirmed this observation, and demonstrated that familial clustering is due in part to genetic factors.
Pauls, David L, Fernandez, Thomas V, Mathews, Carol A, State, Matthew W, Scharf, Jeremiah M   +4 more
openaire   +4 more sources

Gut microbiome and aging—A dynamic interplay of microbes, metabolites, and the immune system

FEBS Letters, EarlyView.
Age‐dependent shifts in microbial communities engender shifts in microbial metabolite profiles. These in turn drive shifts in barrier surface permeability of the gut and brain and induce immune activation. When paired with preexisting age‐related chronic inflammation this increases the risk of neuroinflammation and neurodegenerative diseases.
Aaron Mehl, Eran Blacher
wiley   +1 more source

MPN/MDS OVERLAP SYNDROME ANTICIPATED BY A SEVERE BLEEDING DIATHESIS: HYPOTHESIS OF A PRE-EXISTING PLATELET DISORDER

Mediterranean Journal of Hematology and Infectious Diseases
We report the case of a patient with a conclusive diagnosis of “MDS/MPN” Overlap Syndrome preceded by platelet disorder and hemorrhagic phenotype. We want to induce a reflection about diagnosis of oncohematological disorders in patient with a documented
Paola Ranalli, Stefano Baldoni, Daniela Bruno, Mauro Di Ianni   +3 more
doaj   +1 more source

The Ophthalmological Manifestations of Various Inborn Errors of Metabolism: A Narrative Review

Journal of Pediatrics Review, 2021
Context: Inborn errors of metabolism or Inherited Metabolic Disorders (IMD) are a class of genetic disorders that occur because of single-gene defects. Evidence Acquisition: In this narrative review article, the authors searched Institute for Scientific ...
Abdolreza Medghalchi, Afagh Hassanzadeh Rad, Setila Dalili   +2 more
doaj  

Diversity and complexity in neural organoids

FEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source