Results 101 to 110 of about 196,983 (291)

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Transmission of mitochondrial DNA following assisted reproduction and nuclear transfer [PDF]

, 2006
Review of the articleMitochondria are the organelles responsible for producing the majority of a cell's ATP and also play an essential role in gamete maturation and embryo development.
Alam, Almeida-Santos, Anderson, Ankel-Simons, Barritt, Bavister, Blok, Boulet, Brenner, Brison, Brown, Brown, Campbell, Chang, Chen, Chen, Chinnery, Chung, Cibelli, Cohen, Cortesini, Cui, Cummins, Cummins, Dailey, Danan, Davis, De Block, Dean, Dumollard, Dunbar, D’Aurelio, E.C. Spikings, Eichenlaub-Ritter, Eisen, El Shourbagy, Falkenberg, Fisher, Fisher, Fulka, Gahan, Giles, Graziewicz, Gyllensten, Hammer, Han, Hance, Hanna, Hauswirth, He, Hecht, Hiendleder, Hiendleder, Hiendleder, Holden, Houghton, Humpherys, Inoue, Irwin, J. Alderson, J.C.St. John, Jansen, Kaneda, Keefe, Kenyon, King, Kirches, Klopstock, Koehler, Kondo, Kondo, Kong, Kong, Kraytsberg, Kvist, Laflamme, Larsson, Larsson, Larsson, Larsson, Leese, Lertrit, Lestienne, Levy, Lin, Liu, Liu, Liu, Lloyd, Ludwig, Luetjens, Machaty, Magnusson, Mancuso, Marchington, Margineantu, May-Panloup, McConnell, McCreath, McKenzie, McKenzie, McKenzie, Meirelles, Meirelles, Meirelles, Meusel, Michaels, Monnat, Moyes, Munne, Munsie, Nagao, Naini, Nakamura, Naviaux, Nishi, Nishigaki, Nishimura, Normile, Ojala, Ono, Palermo, Pfeiffer, Piko, Piko, Ponzetto, Poulton, Reynier, Reynier, Rideout, Rubart, Ruiz-Pesini, Sathananthan, Sathananthan, Sato, Satoh, Sazer, Scarpulla, Schon, Schwartz, Seifer, Sherratt, Shitara, Shoubridge, Siciliano, Smith, Sokolova, Spelbrink, Spiropoulos, St. John, St. John, St. John, St. John, St. John, St. John, St. John, St. John, Steinborn, Steinborn, Steuerwald, Stojanovski, Stojkovic, Sturmey, Sun, Sun, Suomalainen, Sutovsky, Sutovsky, Takeda, Takeda, Takeda, Takeuchi, Takeuchi, Taylor, Tessa, Thompson, Tiranti, Trounce, Trounson, Tsaousis, Vajta, Van Blerkom, Van Blerkom, Van Blerkom, Van Goethem, Wakayama, Wallace, Wallace, Wernig, White, White, Wiesner, Wilding, Wilmut, Xu, Yakes, Yang, Yang, Zhang, Zhao, Zouros   +200 more
core   +2 more sources

In‐Depth Profiling Highlights the Effect of Efgartigimod on Peripheral Innate and Adaptive Immune Cells in Myasthenia Gravis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is an autoimmune disorder characterized by antibody‐mediated complement activation. Efgartigimod, a neonatal Fc receptor (FcRn) antagonist, is approved for treating generalized MG (gMG). However, its modulatory effects on upstream innate and adaptive immune cells remain largely unexplored.
Lei Jin, Liu Dong, Ying Wang, Dingxian He, Chong Yan, Jianying Xi, Haoqin Jiang, Yu Shi, Ming Guan, Chongbo Zhao, Jie Song, Sushan Luo   +11 more
wiley   +1 more source

Blood-based bioenergetic profiling is related to differences in brain morphology in African Americans with Type 2 diabetes. [PDF]

, 2018
Blood-based bioenergetic profiling has promising applications as a minimally invasive biomarker of systemic bioenergetic capacity. In the present study, we examined peripheral blood mononuclear cell (PBMC) mitochondrial function and brain morphology in a
Freedman, Barry I, Hughes, Timothy M, Mahapatra, Gargi, Maldjian, Joseph A, Molina, Anthony JA, Smith, S Carrie, Wagner, Benjamin   +6 more
core  

Mitochondrial Dysfunction in Aging and Diseases of Aging. [PDF]

, 2019
Mitochondria have been increasingly recognized as the important players in the aging process [...]
Haas, Richard H
core   +2 more sources

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Acute Respiratory Emergencies in Pediatrics

MedEdPORTAL, 2010
This resource is designed as a simulation exercise. It is one of a series of exercises utilized for education and training about pediatric emergencies for residents, nurses, and prehospital providers. It can be utilized for education or for assessment of
Sharon Calaman, Christopher Haines
doaj   +1 more source

ALS With and Without Upper Motor Neuron Signs: A Comparative Study Supporting the Gold Coast Criteria

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The Gold Coast criteria permit diagnosis of amyotrophic lateral sclerosis (ALS) even without upper motor neuron (UMN) signs. However, whether ALS patients with UMN signs (ALSwUMN) and those without (ALSwoUMN) share similar characteristics and prognoses remains unclear.
Hee‐Jae Jung, E‐nae Cheong, Jungmin So, Heung‐Won Kang, Yangsean Choi, Eun‐Jae Lee, Hyunjin Kim, Young‐Min Lim   +7 more
wiley   +1 more source

CLINICAL MEANING OF LACTATE CONCENTRATION STUDYING IN NEWBORNS IN THE CRITICAL STATE

Вестник анестезиологии и реаниматологии, 2018
The article presents the outcomes of studying lactate concentration depending on clinical laboratory status in newborns in critical state. The study included 128 newborns with body mass of 1500 (1300-1740) gr. and gestation period 30.5 (29-32) weeks.
K. V. Pshenisnov, Yu. S. Аleksandrovich, S. A. Blinov, E. V. Parshin   +3 more
doaj   +1 more source

Disorders of Respiration and Sleep-Disordered Breathing in Patients with Chronic Renal Failure

Current Respiratory Medicine Reviews, 2006
Chronic renal failure may be associated with a wide spectrum of respiratory disorders, varying from relatively minor derangements in pulmonary function testing, to frank pulmonary edema. Although complications like uremic lung are becoming increasingly rare in these patients with timely initiation of dialysis, dialysis itself can also exert a transient
Markou, N.K., Athanasiou, M., Hroni, D., Myrianthefs, P.M.   +3 more
openaire   +2 more sources