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Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: from our experience of 4 cases including an autopsy case.
TLDR
For a better prognosis in the late onset Pompe disease, an early diagnosis for the early start of ERT before the onset of respiratory failure should be important, and the deliberate management and care should be needed even after the ERT start, especially for severe cases including pulmonary dysfunction.
Modified Atkins diet therapy for a case with glucose transporter type 1 deficiency syndrome
TLDR
The modified Atkins diet, which is much less restrictive in terms of the total calorie and protein intake than the classical ketogenic diet, has been shown to be effective and well tolerated in children with intractable epilepsy.
Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards.
TLDR
TRECs quantification can be used as a neonatal mass screening for patients with SCID, and TRECs were extremely low in all neonatal Guthrie cards and peripheral blood from patients withSCID.
Beta-blocker therapy for cardiac dysfunction in patients with muscular dystrophy.
TLDR
Carvedilol plus an ACEI improves left ventricular systolic function in patients with muscular dystrophy.
Close monitoring of initial enzyme replacement therapy in a patient with childhood-onset Pompe disease
TLDR
Close monitoring of initial ERT is reported, focusing especially on the first year, in a 12-year-old boy with childhood-onset Pompe disease, finding that the timed test results corresponded better to his changing clinical course than did grip power, MMT or 6-min walking test results.
Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency
TLDR
Two new cases of congenital myasthenic syndromes with endplate acetylcholinesterase deficiency are identified, and the close similarity of the mutations of these two patients with different phenotypes suggests that other factors may modify the severity of this disease.
Severe muscle damage following viral infection in patients with Fukuyama congenital muscular dystrophy
TLDR
The reason for muscle damage induced by viral infection remains unknown; however, physicians should consider its risk, sometimes leading to death, and draw it to parents' attention, especially in the defervescent stage.
Congenital fiber type disproportion myopathy caused by LMNA mutations
TLDR
All FTD associated with LMNA-myopathy were caused by hypertrophy of type 2 fibers as compared with age-matched controls, whereas CFTD with mutations in ACTA1 or TPM3 showed selective type 1 fiber atrophy but no type 2 fiberhypertrophy.
G.P.317 Renal dysfunction in patients with Fukuyama congenital muscular dystrophy
TLDR
Though FCMD patients also have cardiac dysfunction, careful fluid management is instituted early because dysphagia emerges in the early stage, and inadequate fluid management may also cause circulatory instability, which can progress to prerenal failure.
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