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muscle hypotonia/febre
L'enllaç es desa al porta-retalls
Pàgina 1 des de 169 resultats
Intraoperative Presentation of Malignant Hyperthermia (Confirmed by RYR1 Gene Mutation, c.7522C>T; p.R2508C) Leads to Diagnosis of King-Denborough Syndrome in a Child With Hypotonia and Dysmorphic Features: A Case Report.
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We present the novel case report of a child with hypotonia and dysmorphic features who developed malignant hyperthermia (MH) intraoperatively. Neurology workup revealed the presence of a known causative ryanodine receptor (RYR1) mutation for MH, c.7522C>T; p.R2508C. Furthermore, the neurology workup
[Pathogenesis of bradycardia and hypotonia in relapsing fever].
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Hyperthermia under anesthesia with regional muscle flaccidity.
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Multiple mitochondrial DNA deletions and persistent hyperthermia in a patient with Brachmann-de Lange phenotype.
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In a newborn boy with characteristics of Brachmann-de Lange syndrome (BDLS) high temperatures were observed on the second day after birth and recurred 2-6 times daily during the 7 months of the patient's life. After transient hypertonia hypotonia developed. In muscle biopsy specimen taken on the
[Neurological complications of Argentinian hemorrhagic fever].
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The Argentine hemorrhagic fever (AHF) is an infectious disease, endemo-epidemical, of viral etiology, produced by the Junin virus and limited to the Buenos Aires Province, South of Córdoba, East of La Pampa, and South of Santa Fe. It generally assails rural workers at harvest-time, especially during
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities.
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Ral (Ras-like) GTPases play an important role in the control of cell migration and have been implicated in Ras-mediated tumorigenicity. Recently, variants in RALA were also described as a cause of intellectual disability and developmental delay, indicating the relevance of this pathway to
Mitochondrial myopathies: an unusual cause of hypotonia in infants and children.
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Children frequently undergo muscle biopsy for the workup of hypotonia under general anaesthesia which poses unique risks in patients with undiagnosed muscle disease. Mitochondrial myopathies are a relatively newly recognized cause of myopathy and multisystem disease in both adults and children. The
Severe Multiorgan Failure Following Yellow Fever Vaccination
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Background: The yellow fever (YF) vaccination is recommended by the WHO for people traveling or living in endemic areas at risk for yellow fever infections in Africa and South America. Although the live attenuated yellow fever vaccine is
Severe infantile hypotonia with ethylmalonic aciduria: case report.
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An 8-month-old girl was admitted to an outpatient clinic with significant hypotonia and weakness. Organic acid analysis in urine revealed a significant increase in ethylmalonic acid. A deoxyribonucleic analysis revealed the presence of a 625G>A (G-to-A substitution at nucleotide 625) variant
[The effect of the early treatment of patients with hemorrhagic fever with renal syndrome on the further course of the disease].
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173 case records have been analyzed to specify the role of early therapy (antipyretics, antibiotics, sulphanilamide drugs) on further development of hemorrhagic fever with renal syndrome. Early treatment of the above patients was found uneffective and not safe as to possible complications, for
Bilateral middle cerebral artery thromboembolic occlusion. Could maternal hyperthermia be a detrimental factor?
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We describe a six-month-old girl with microcephaly, developmental delay, truncal hypotonia, left pyramidal signs, partial seizures and myoclonic spasms, born to a feverish mother. MRI showed bilateral vascular lesions in the territory of the middle cerebral arteries, prevalent in the right
[Mediterranean boutonneuse fever disclosed by severe neurological involvement].
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The authors report a case of mediterranean boutonneuse fever disclosed in a 6 year-old child presenting with severe neurological disorder, coma, hypotonia, sphincteral disorders, rash and eschar at the site of bite. Rise of antibodies detected by indirect immunofluorescence test (1/80----1/320)
One in three: congenital bent bone disease and intermittent hyperthermia in three siblings with stuve-wiedemann syndrome.
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Stuve-Wiedemann syndrome (STWS) is a rare disorder characterised by congenital bowing of the long bones, contractures of the joints, neonatal onset of respiratory distress, sucking and swallowing difficulties, dysautonomia presenting as episodic hyperthermia, and usually an early death. Three
Reverse Shapiro's syndrome--an unusual cause of fever of unknown origin.
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Reverse Shapiro's syndrome was first described by Hirayama et al. in a girl with periodic hyperthermia associated with complete agenesis of the corpus callosum. Here we report another such case in a 9-month-old girl presenting with fever of unknown origin since the age of 7 months. On examination,
Nephrogenic diabetes insipidus presenting with infantile hypotonia. A report of 2 cases.
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Nephrogenic diabetes insipidus usually presents with polyuria, polydipsia, fever, vomiting, dehydration and failure to thrive. However, in infancy polyuria may be absent because of dehydration and reduced glomerular filtration rate. In 2 cases the main presenting feature was hypotonia, with marked
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