Perfluorodecalin lavage of a longstanding lung atelectasis in a child with spinal muscle atrophy

Spinal muscular atrophy (SMA) is an autosomal recessive disorder that is the leading genetic cause of infantile death. SMA is characterized by loss of motor neurons in the ventral horn of the spinal cord, leading to weakness and muscle atrophy. SMA occurs as a result of homozygous deletion or mutations in Survival Motor Neuron-1 (SMN1). Loss of SMN1 leads to a dramatic reduction in SMN protein, which is essential for motor neuron survival. SMA disease severity ranges from extremely severe to a relatively mild adult onset form of proximal muscle atrophy. Severe SMA patients typically die mostly within months or a few years as a consequence of respiratory insufficiency and bulbar paralysis. SMA is widely known as a motor neuron disease; however, there are numerous clinical reports indicating the involvement of additional peripheral organs contributing to the complete picture of the disease in severe cases. In this review, we have compiled clinical and experimental reports that demonstrate the association between the loss of SMN and peripheral organ deficiency and malfunction. Whether defective peripheral organs are a consequence of neuronal damage/ muscle atrophy or a direct result of SMN loss will be discussed.

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“…; Henrichsen et al. ). Most recently, lung structural defects were indicated in the severe Taiwanese mice (Schreml et al.…”

Section: Additional Organ Deficiencies In Sma Patients and Micementioning

confidence: 98%

Spinal muscular atrophy: a motor neuron disorder or a multi‐organ disease?

2013

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“…Intratracheal or intrabronchial instillation of perfluorocarbon has been used to facilitate drug delivery to the lungs, 2 to recruit atelectatic lung tissue, 3 and to facilitate treatment of meconium aspiration syndrome. 4 In the presented case, perfluorocarbon facilitated the clearance of blood from the lungs.…”

Section: Use Of Tracheal Packing and Perfluorocarbon In Life-threatenmentioning

confidence: 99%

Use of tracheal packing and perfluorocarbon in life‐threatening pulmonary hemorrhage on ECMO

Kleine‐Brueggeney

Nyman

James

2020

Pediatric Pulmonology

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“…In some patients, atelectasis is reported,38, 39 and structural lung damage is observed after autopsy. In severe SMA mice, lung abnormalities are also found 40 .…”

Section: Discussionmentioning

confidence: 99%

Efficient SMN Rescue following Subcutaneous Tricyclo-DNA Antisense Oligonucleotide Treatment

Robin

Griffith

Carter

et al. 2017

Molecular Therapy - Nucleic Acids

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Spinal muscular atrophy (SMA) is a recessive disease caused by mutations in the SMN1 gene, which encodes the protein survival motor neuron (SMN), whose absence dramatically affects the survival of motor neurons. In humans, the severity of the disease is lessened by the presence of a gene copy, SMN2. SMN2 differs from SMN1 by a C-to-T transition in exon 7, which modifies pre-mRNA splicing and prevents successful SMN synthesis. Splice-switching approaches using antisense oligonucleotides (AONs) have already been shown to correct this SMN2 gene transition, providing a therapeutic avenue for SMA. However, AON administration to the CNS presents additional hurdles. In this study, we show that systemic delivery of tricyclo-DNA (tcDNA) AONs in a type III SMA mouse augments retention of exon 7 in SMN2 mRNA both in peripheral organs and the CNS. Mild type III SMA mice were selected as opposed to the severe type I model in order to test tcDNA efficacy and their ability to enter the CNS after maturation of the blood brain barrier (BBB). Furthermore, subcutaneous treatment significantly improved the necrosis phenotype and respiratory function. In summary, our data support that tcDNA oligomers effectively cross the blood-brain barrier and offer a promising systemic alternative for treating SMA.

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Perfluorodecalin lavage of a longstanding lung atelectasis in a child with spinal muscle atrophy

Abstract: Lavage with PFC can safely be performed with a therapeutic effect in a child with unilateral total lung atelectasis.

Cited by 6 publications

References 22 publications

Spinal muscular atrophy: a motor neuron disorder or a multi‐organ disease?

Spinal muscular atrophy: a motor neuron disorder or a multi‐organ disease?

Use of tracheal packing and perfluorocarbon in life‐threatening pulmonary hemorrhage on ECMO

Efficient SMN Rescue following Subcutaneous Tricyclo-DNA Antisense Oligonucleotide Treatment

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