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1.
Eur J Paediatr Neurol ; 49: 95-99, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38457958

ABSTRACT

The approval of disease-modifying treatment in spinal muscular atrophy made the condition less severe. The course of the disease changed, but some new concerns occurred with the different new therapies. The side effects of onasemnogene aboparvovec therapy can raise differential diagnostic challenges and necessitate immune therapy, leading to immunosuppression affecting response to vaccines. We provide a pretherapy screening proposal from an infectological point of view separately for newborns treated presymptomatically and children diagnosed with symptoms at any age. Furthermore, we summarise the guidelines on the vaccination before, during, and after immune therapy (steroids) in onasemnogene aboparvovec-treated patients.


Subject(s)
Recombinant Fusion Proteins , Vaccination , Child , Humans , Infant , Infant, Newborn , Biological Products/adverse effects , Biological Products/therapeutic use , Spinal Muscular Atrophies of Childhood/drug therapy , Vaccination/adverse effects
2.
Arch Virol ; 162(6): 1757-1763, 2017 Jun.
Article in English | MEDLINE | ID: mdl-28243803

ABSTRACT

In this case study, a co-infection with coxsackievirus A5 (family Picornaviridae) and norovirus GII.4 (family Caliciviridae) was detected by RT-PCR in a faecal sample from a six-year-old girl with symptoms of severe acute encephalopathy subsequently diagnosed as the intermittent form of maple syrup urine disease (MSUD). The two co-infecting viruses, which had been detected previously, appeared to have triggered the underlying metabolic disorder. Here, we describe the genotyping of the viruses, as well as the chronological course, laboratory test results, and clinical presentation of this case, which included recurrent vomiting without diarrhoea, metabolic acidosis, unconsciousness, seizure and circulatory collapse, but with a positive final outcome.


Subject(s)
Brain Diseases/virology , Enterovirus A, Human/isolation & purification , Maple Syrup Urine Disease/virology , Norovirus/isolation & purification , Brain Diseases/diagnosis , Child , Coinfection , Enterovirus A, Human/genetics , Enterovirus A, Human/physiology , Feces/virology , Female , Genotype , Humans , Maple Syrup Urine Disease/diagnosis , Norovirus/genetics , Norovirus/physiology
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