Results 181 to 190 of about 879,135 (289)

Preoperative Medical Evaluation and Optimisation of Children and Adolescents With Cerebral Palsy (GMFCS IV and V) With Complex Medical Comorbidity Undergoing Lower Limb Orthopaedic Surgery: Results of a Combined Rehabilitation Orthopaedic Paediatric Service

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Aim To describe preoperative medical evaluation, optimisation and acute postoperative outcomes in children and adolescents with cerebral palsy (CP) undergoing lower limb orthopaedic surgery managed in a Combined Rehabilitation Orthopaedic Paediatric Service (CROPS). Methods A retrospective medical record review of children and adolescents with
Jennifer Armstrong, Emre Ilhan, Verity Pacey, Paula Bray, Matthias Axt, Jacqueline Dalby‐Payne   +5 more
wiley   +1 more source

Expanding Spectrum of FIG4-Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype-Phenotype Correlations. [PDF]

Clin Genet
Prasun P, Rasberry M.
europepmc   +1 more source

Narcolepsy and rapid eye movement sleep

Journal of Sleep Research, Volume 34, Issue 2, April 2025.
Summary Since the first description of narcolepsy at the end of the 19th Century, great progress has been made. The disease is nowadays distinguished as narcolepsy type 1 and type 2. In the 1960s, the discovery of rapid eye movement sleep at sleep onset led to improved understanding of core sleep‐related disease symptoms of the disease (excessive ...
Francesco Biscarini, Lucie Barateau, Fabio Pizza, Giuseppe Plazzi, Yves Dauvilliers   +4 more
wiley   +1 more source

A rare <i>de novo</i> contiguous 15q11.1-q13.3 duplication with tetrasomy (CN=4) and adjacent trisomy (CN=3) associated with severe global developmental delay, autism spectrum disorder, and subclinical epileptiform discharges: a case report and literature review. [PDF]

Front Genet
Zhou X, Xie H, Yu H, Zhang Z, Qi Y, Jiang K, Lin S.   +6 more
europepmc   +1 more source

Oral Manifestations of Non Vascular Ehlers‐Danlos Syndrome Cross‐Sectional Study

Oral Diseases, EarlyView.
ABSTRACT Background Ehlers–Danlos syndromes are rare hereditary connective tissue disorders; however, their oral manifestations remain poorly characterized in molecularly confirmed individuals. The aim of this study was to describe the oral phenotype of patients with non‐vascular Ehlers‐Danlos syndromes compared to healthy controls.
Aude Grand, Benjamin P. J. Fournier, Grégoire Chevalier, Karelle Benistan, François Côme Ferré   +4 more
wiley   +1 more source

Presynaptic Congenital Myasthenic Syndromes. [PDF]

Muscle Nerve
Maselli RA.
europepmc   +1 more source

Case Report: RYR1-related myopathy with hypoxic ischemic encephalopathy-a case of severe neonatal presentation due to a <i>de novo</i> variant of uncertain significance. [PDF]

Front Pediatr
Sanghamitra S, Mandala R, Budh H, Arora Y, Rivera-Hernandez P, Hpa NJ, Elberson V, Rawat M, Mani S.   +8 more
europepmc   +1 more source

A Case of Down's Syndrome recognized by Muscle Hypotonia during the Neonatal Period

ADVANCES IN OBSTETRICS AND GYNECOLOGY, 1970
SAWARAGI, Isamu, ITOH, Haruo, ETOH, Katsuma, OTSUKI, Yasunori, KUSAKA, Naoki, IWASE, Suiko   +5 more
openaire   +1 more source

Canonical and non‐canonical functions of proteins regulating mitochondrial dynamics in mammalian physiology

The Journal of Physiology, EarlyView.
Abstract figure legend Mitochondria are highly dynamic organelles that continuously remodel their architecture through coordinated cycles of fusion and fission. This review examines the four key GTPases that orchestrate mitochondrial dynamics in mammals: MFN1, MFN2, OPA1, and DRP1.
Rémi Chaney, Vincent Marcangeli, Krystel Desjardins, Shima Taherkhani, Gilles Gouspillou   +4 more
wiley   +1 more source

[Muscle hypotonia in urinary tract infection and hyperphosphaturia in infants].

Pediatria polska, 1985
K, Bittner, K, Lubicz, J, Maciejewski, K, Strzykała   +3 more
openaire   +1 more source