Results 41 to 50 of about 180,554 (264)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Menorrhagia in inherited bleeding disorders in Iraqi women

Iraqi Journal of Hematology
BACKGROUND: Menorrhagia, or excessive menstrual bleeding, is a common symptom in women with inherited bleeding disorders; they are conditions where the blood ability to clot is impaired.
Yusra Ghiath Yaseen, Elaf Zuhair Hmeed, Nidal Karim Al Rahal, Baan Abdulatif Mtashar   +3 more
doaj   +1 more source

Safety and Tolerability of Givinostat: Evidence From Real‐World and Clinical Practice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of our study was to establish the prevalence of adverse events in a real‐world setting in boys living with Duchenne muscular dystrophy (DMD) treated with givinostat as part of an Expanded Access Program (EAP) in Italy. Methods The cohort included 90 ambulant boys, with age when treatment started between 6 and 23 years (mean ...
Marika Pane, Anna Capasso, Chiara Arpaia, Adele D’Amico, Emilio Albamonte, Federica Trucco, Maria Sframeli, Riccardo Masson, Francesca Magri, Luca Bello, Romina Venditti, Claudia Dosi, Michela Catteruccia, Michele Tosi, Claudio Bruno, Sonia Messina, Giacomo Comi, Elena Pegoraro, Valeria A. Sansone, Eugenio Mercuri   +19 more
wiley   +1 more source

Efficacy of Blood Factors for Treatment of Temporomandibular Disorders: A Review

Journal of Craniomaxillofacial Research
Introduction: To date, no consensus has been reached on one single efficient treatment for temporomandibular disorders (TMDs). Considering the existing controversy regarding the efficacy of blood factors for the treatment of TMDs, this study aimed to do
Akram Ghannadpour, Shahab Honar, Ahmad Toumaj, Seyedeh Paniz Mousavi Sangsaraki, Farnoosh Razmara   +4 more
doaj   +1 more source

Evaluating hemostatic thresholds for neuraxial anesthesia in adults with hemorrhagic disorders and tendencies: A scoping review

Research and Practice in Thrombosis and Haemostasis, 2021
Neuraxial anesthesia can be complicated by spinal or epidural hematoma and may result in permanent neurologic injury. There is a paucity of literature characterizing this serious complication in patients with congenital and acquired hemorrhagic disorders
Wynn Peterson, Brandon Tse, Rachel Martin, Michael Fralick, Michelle Sholzberg   +4 more
doaj   +1 more source

Platelet-Like Bodies in Urine in Some Blood Disorders [PDF]

Thrombosis and Haemostasis, 1977
We had reported that it is always observed a small body resembling a platelet in urine of normal and various sick persons and the small body is a platelet itself or a ruin of platelet (Lancet, 1, 1339, 1975., N. Engl. J. Med., 293, 44, 1975., Nihon Univ. J. Med., 17, 117, 1975., Japan. J. Clin. Hemat., 17, 632, 1976., Jap. J. Urol., 67, 903, 1976.). We
N. Kōno, T.P. Chen, N. Suzawa, T. Mizokami   +3 more
openaire   +1 more source

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +1 more source

High-throughput measurement of human platelet aggregation under flow: application in hemostasis and beyond

Platelets, 2018
In recent years, considerable progress has been made in understanding the mechanisms involved in platelet activation during hemostasis and thrombosis. Parallel-plate flow chambers and other microfluidic devices have markedly contributed to this insight ...
Sanne L. N. Brouns, Johanna P. van Geffen, Johan W. M. Heemskerk   +2 more
doaj   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Homocysteine levels and platelet aggregation in patients with cerebral circulatory disorders

Терапевтический архив, 2013
AIM: To reveal platelet functional changes manifesting as abnormal rate of platelet aggregation in patients with acute cerebral circulatory disorders (ischemic stroke, transient ischemic attack), to evaluate the effect of homocysteine (Hc) on platelet ...
Z Sabaliauskiene, P Gribauskas, V Gaigalaite, J Ptašekas, V Ojeraitene, D Kalibatene   +5 more
doaj