13 rezultatov
Spinal muscular atrophy (SMA) is a genetic neuromuscular disease characterized by progressive muscle weakness and atrophy. We report a case of a 36-year-old man with SMA type 3 who presented to our emergency department with epigastric pain and vomiting. He was found to have severe ketoacidosis on
We report a case of a 29-year-old woman with spinal muscular atrophy (SMA) type II who developed severe ketoacidosis after short-term starvation. She was hospitalized with lower respiratory tract infection. Although her symptoms improved after administration of intravenous antibiotic agents, her
Patients' perceptions of benefit-risk are essential to informing the regulatory process and the context in which potential therapies are evaluated. To bring this critical information to regulators, Cure SMA launched a first-ever Benefit-Risk Survey for spinal muscular atrophy (SMA) to Spinal muscular atrophy (SMA) is a progressive motor neuron disease causing loss of motor function and reduced life expectancy, for which limited treatment is available. We investigated the safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 SMA.
This randomised,
Treatment with nusinersen has demonstrated significant and clinically meaningful benefits in clinical trials in infants and children with spinal muscular atrophy (SMA).The objective of this analysis was to characterize the safety of nusinersen across the BACKGROUND
There are no reports describing complications with posterior spinal fusion (PSF) with segmental spinal instrumentation (SSI) using pedicle screw fixation in patients with neuromuscular scoliosis.
METHODS
Fifty neuromuscular patients (18 cerebral palsy, 18 Duchenne muscular dystrophy, 8
Astronauts and scientists are scheduled to stay aboard the International Space Station (ISS) for three-month periods, and various problems relating to the human ability to live in space for such long periods of time, as well as medical problems, are being studied. For the crews that have operated
OBJECTIVE
Methylmalonic acidemia (MMA) is one of the most common disorders of congenital organic acid metabolism. This study aimed at exploring the clinical characteristics and treatment of the disease to help improve our understanding of it.
METHODS
The clinical data of 14 patients with MMA
For long-term tube feeding in children, percutaneous endoscopic gastrostomy (PEG) has the advantages of a short surgical time, early feeding following surgery, and lower rate of complications. From July 2000 to September 2002, we enrolled fifteen children (mean age: 8.2 years old) who underwent PEG
A case of 25-year-old woman with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) was reported. She had short stature, episodic vomiting with headache, several episodes with homonymous hemianopsia, progressive intellectual decline, generalized convulsion, muscular
Gastric emphysema encompasses a broad spectrum of diseases. A 31-year-old woman presented with severe vomiting and epigastric pain. She had lost body weight for several months, and was later diagnosed as having anorexia nervosa. A radiological study demonstrated intramural gas with huge gastric
Malnutrition in maintenance haemodialysis (HD) patients is closely related with morbidity and mortality in this population.
OBJECTIVE
To evaluate feasibility, performance and information given by SGA (subjective global assessment), a semi-quantitative method of nutritional evaluation (based on a
Mitochondrial myopathy, encephalopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is one of the mitochondrial encephalomyopathies that has distinct clinical features including stroke-like episodes with migraine-like headache, nausea, vomiting, encephalopathy and lactic acidosis.