Results 21 to 30 of about 31,520 (324)
A Case of Anaphylaxis with Unusual Clinical Presentation that Obscured Early Diagnosis [PDF]
Pediatric Emergency Medicine Journal, 2014 Anaphylaxis is a severe systemic allergic reaction, which progresses rapidly and may cause death. However, the diagnosis of anaphylaxis is difficult because initial symptoms and signs of anaphylaxis have various patterns.
Se Uk Lee +4 more
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Peroxisomes are required for lipid metabolism and muscle function in Drosophila melanogaster. [PDF]
PLoS ONE, 2014 Peroxisomes are ubiquitous organelles that perform lipid and reactive oxygen species metabolism. Defects in peroxisome biogenesis cause peroxisome biogenesis disorders (PBDs).
Joseph E Faust +8 more
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Children, 2022 (1) Background: Decreased trunk stability is accompanied by delay in motor development in children with central hypotonia. We investigated the effect of Vojta therapy on trunk control in the sitting position in children with central hypotonia.
Sun-Young Ha, Yun-Hee Sung
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Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy. [PDF]
, 2020 Developmental and epileptic encephalopathies are a heterogeneous group of early-onset epilepsy syndromes dramatically impairing neurodevelopment. Modern genomic technologies have revealed a number of monogenic origins and opened the door to therapeutic ...
Alix, E +30 more
core +2 more sources
Research progress of floppy infant syndrome
Chinese Journal of Contemporary Neurology and Neurosurgery, 2018 The term "floppy infant" is used for describing children presenting with muscle hypotonia at or shortly after birth. The clinical manifestation of floppy infants is skeletal muscle hypotonia, which may be caused by a lot of reasons.
Chao-ping HU, Xi-hua LI
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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023 Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei +4 more
wiley +1 more source
Journal of Pediatric and Neonatal Individualized Medicine, 2014 The Floppy Infant Syndrome includes a variety of signs and symptoms: decrease in muscle tone (hypotonia), in muscle power (weakness) and ligamentous laxity and increased range of joint mobility.
Massimiliano De Vivo +4 more
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Congenital muscular dystrophy: from muscle to brain. [PDF]
, 2016 Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G +7 more
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Coincidence of Nemaline Myopathy and Agenesis of Corpus Callosum in a Newborn Infant: Case Report
Journal of Behçet Uz Children's Hospital, 2019 The diagnosis of the hypotonia at the neonatal period is difficult. In the neonatal period, the differential must include acute illnesses and systemic diseases such as sepsis, congestive heart failure and inborn errors of metabolism. Congenital disorders
Sinem Akbay +7 more
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Oral lichen planus trismus treated with a radiofrequency device: a new instrument in the treatment of oral potentially malignant disorders? [PDF]
World Cancer Research Journal, 2022 Objective: To report 2 cases of patients with oral lichen planus (OLP), with involvement of the cheeks, with reduced mouth opening, successfully treated with a single radiofrequency session.
C. Casu, G. Campanella, G. Orrù
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