Notes

Treatment nutrition for those with frailty, impairment, sarcopenic dysphagia, as well as sarcopenic respiratory system impairment.
However, overall there was not strong evidence of a relationship between the number of antiparkinsonian medications taken and the fERG parameters.

Findings suggest that fERG may be a useful, non-intrusive measure of retinal, and, perhaps overall CNS function, in PD. However, additional studies in larger samples are needed to clarify this association.
Findings suggest that fERG may be a useful, non-intrusive measure of retinal, and, perhaps overall CNS function, in PD. However, additional studies in larger samples are needed to clarify this association.Andersen-Tawil syndrome (ATS) is a rare autosomal dominant neuromuscular disorder due to mutations in the KCNJ2 gene. The classical phenotype of ATS consists of a triad of periodic paralysis, cardiac conduction abnormalities and dysmorphic features. Episodes of either muscle weakness or cardiac arrhythmia may predominate however, and dysmorphic features may be subtle, masking the true breadth of the clinical presentation, and posing a diagnostic challenge. The severity of cardiac involvement varies but includes reports of life-threatening events or sudden cardiac death, usually attributed to ventricular tachyarrhythmias. We report the first case of advanced atrioventricular (AV) block in ATS and highlight clinical factors that may delay diagnosis.BackgroundSpinal muscular atrophy (SMA) is a motor neuron disease associated with progressive muscle weakness and motor disability.ObjectiveThis study aims to report the evaluation of nusinersen, an antisense oligonucleotide, on motor function in patients with SMA types 2 and 3.MethodsThis single-center retrospective observational study assessed nusinersen therapy outcomes, measured by HSMFSE or CHOP-INTEND scales, in patients with SMA types 2 and 3, compared to untreated patients, for at least 24 months.ResultsA total of 41 patients with SMA types 2 and 3 under nusinersen treatment were included. In 30 treated patients (mean age 10.6 years; 14 with SMA type 2), the mean change in HFMSE scores was +1.47 points (SD = 0.4) and +1.60 points (SD = 0.6) after 12 and 24 months of treatment, respectively. In contrast, the control group (N = 37) (mean age 10.2 years; 20 with SMA type 2) presented a mean change of -1.71 points (SD = 0.02) and -3.93 points (SD = 0.55) after 12 and 24 months of follow-up, respectively. The most severe patients under nusinersen treatment (N = 11) showed a change of +2.37 (SD = 1.13) on the CHOP-INTEND scale after 12 months of follow-up. Disease duration at the beginning of treatment was the main predictor of functional improvement. Despite functional gain and motor stabilization, treatment with nusinersen did not prevent the progression of scoliosis.ConclusionsOur data provide evidence for the long-term safety and efficacy of nusinersen use in the treatment of later-onset SMA, and patients with shorter disease duration showed better response to treatment.Amyotrophic lateral sclerosis (ALS) is a devastating and incurable motor neuron (MN) disorder affecting both upper and lower MNs. Despite impressive advances in the understanding of the disease's pathological mechanism, classical pharmacological clinical trials failed to provide an efficient cure for ALS over the past twenty years. Two different gene therapy approaches were recently approved for the monogenic disease Spinal muscular atrophy, characterized by degeneration of lower MNs. This milestone suggests that gene therapy-based therapeutic solutions could be effective for the treatment of ALS. This review summarizes the possible reasons for the failure of traditional clinical trials for ALS. It provides then a focus on the advent of gene therapy approaches for hereditary forms of ALS. Specifically, it describes clinical use of antisense oligonucleotides in three familial forms of ALS, caused by mutations in SOD1, C9orf72 and FUS genes, respectively.. Clinical and pre-clinical studies based on AAV-mediated gene therapy approaches for both familial and sporadic ALS cases are presented as well. Overall, this overview highlights the potential of gene therapy as a transforming technology that will have a huge impact on treatment perspective for ALS patients and on the design of future clinical trials.
Intussusception is a common cause of obstruction in paediatric patients. Rapid clinical recognition and treatment is important to prevent potentially fatal complications. The present study aims to derive a clinical scoring system for prediction of risk of operative intervention in patients with intussusception.

Data of 100 patients with intussusception were analyzed retrospectively, and a score was calculated based on clinical parameters - age, presence/absence of symptoms and signs such as abdominal distention, vomiting, lump abdomen, red currant jelly stools and duration of abdominal pain. The maximum score was 12, and the minimum score was 6. This score was then applied to other 50 consecutive patients with intussusception.

Of 100, 13 patients required operative intervention; 87 patients were managed by hydrostatic reduction. In all, four patients with a score of 12 and five patients with a score of 11 required operative intervention. Tulmimetostat order Seven patients had a score of 10, out of which four (57.14%) requiserve as a pilot work to develop a user-friendly score for early surgical decision making in the management of paediatric intussusception.
This clinical score helps to predict the risk of operative intervention required in a child with a diagnosis of intussusceptions - duration of abdominal pain of 48 h or more, presence of abdominal distention and lump and red currant jelly stools are strong predictors of need of operative intervention in patients with intussusception. Higher the score (8 or more, as concluded by this study), more the probability of requiring operative intervention in these patients. Though limited, this study could serve as a pilot work to develop a user-friendly score for early surgical decision making in the management of paediatric intussusception.Diffuse or interstitial lung disease (DLD/ILD) comprises a diverse group of disorders that involve the pulmonary parenchyma. Its aetiology varies (which makes the diagnostic process difficult), but congenital diseases, including malformation syndromes or developmental disorders, constitute one of the causative factors. They are rare conditions, and thus their frequency is not high. However, considering the progress and increasing availability of genetic testing, detection of these rare syndromes may increase. The aim of this work is, therefore, to present the symptomatology of selected congenital syndromes with ILD, taking into account the genetic background.
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