Two Japanese sibling cases of adult-onset galactosialidosis with a remarkable variation of clinical severity

2017 ◽  
Vol 381 ◽  
pp. 703
Author(s):  
S. Tsukagoshi ◽  
T. Sugawara ◽  
Y. Fujisawa ◽  
N. Furuta ◽  
K. Nagashima ◽  
...  
Author(s):  
Emmanuel Roze ◽  
Frédéric Sedel

GM1 gangliosidosis is due to beta-galactosidase deficiency. The adult-onset form is characterized by progressive generalized dystonia, often associated with akineto-rigid Parkinsonism. Mild skeletal dysplasia and short stature are good diagnostic clues. GM2 gangliosidosis is due to beta-hexosaminidase deficiency. The adult-onset form is characterized by complex neurological disorders, in which features resulting from cerebellar and motor neuron dysfunction are the most frequent. Movement disorders, psychotic symptoms, mild pyramidal signs, axonal polyneuropathy, autonomic dysfunction, and vertical supranuclear palsy can also be observed. Clinical severity and the rate of progression both vary widely from one patient to another. Diagnosis is based on measurements of enzyme activity and molecular analysis. Physiotherapy, speech therapy and management of swallowing are crucial for these patients’ quality of life and prognosis.


2021 ◽  
Vol 10 (11) ◽  
pp. 2474
Author(s):  
Mariola Molina-García ◽  
David Fraguas ◽  
Ángel del Rey-Mejías ◽  
Gisela Mezquida ◽  
Ana Sánchez-Torres ◽  
...  

Background: premorbid IQ (pIQ) and age of onset are predictors of clinical severity and long-term functioning after a first episode of psychosis. However, the additive influence of these variables on clinical, functional, and recovery rates outcomes is largely unknown. Methods: we characterized 255 individuals who have experienced a first episode of psychosis in four a priori defined subgroups based on pIQ (low pIQ < 85; average pIQ ≥ 85) and age of onset (early onset < 18 years; adult onset ≥ 18 years). We conducted clinical and functional assessments at baseline and at two-year follow-up. We calculated symptom remission and recovery rates using the Positive and Negative Symptoms of Schizophrenia Schedule (PANSS) and the Global Assessment Functioning (GAF or Children-GAF). We examined clinical and functional changes with pair-wise comparisons and two-way mixed ANOVA. We built hierarchical lineal and logistic regression models to estimate the predictive value of the independent variables over functioning or recovery rates. Results: early-onset patients had more severe positive symptoms and poorer functioning than adult-onset patients. At two-year follow-up, only early-onset with low pIQ and adult-onset with average pIQ subgroups differed consistently, with the former having more negative symptoms (d = 0.59), poorer functioning (d = 0.82), lower remission (61% vs. 81.1%), and clinical recovery (34.1% vs. 62.2%). Conclusions: early-onset individuals with low pIQ may present persistent negative symptoms, lower functioning, and less recovery likelihood at two-year follow-up. Intensive cognitive and functional programs for these individuals merit testing to improve long-term recovery rates in this subgroup.


Ob Gyn News ◽  
2005 ◽  
Vol 40 (8) ◽  
pp. 46
Author(s):  
KATE JOHNSON
Keyword(s):  

2008 ◽  
Vol 38 (21) ◽  
pp. 30
Author(s):  
SHARON WORCESTER
Keyword(s):  

2020 ◽  
Vol 88 (08) ◽  
pp. 488-489

Die wenigen Studien zum kognitiven Training bei Patienten mit früh beginnender Schizophrenie (Early-Onset-Schizophrenia, EOS) zeigten einen geringeren Behandlungserfolg als das kognitive Training bei Patienten, die als Erwachsene erkrankt sind (Adult-Onset-Schizophrenia, AOS). Eine Sekundäranalyse zweier Studien prüfte jetzt, ob ein auditorisches Training (AT) bei beiden Patientengruppen unterschiedlich wirksam ist.


Phlebologie ◽  
2010 ◽  
Vol 39 (03) ◽  
pp. 133-137
Author(s):  
H. Partsch

SummaryBackground: Compression stockings are widely used in patients with varicose veins. Methods: Based on published literature three main points are discussed: 1. the rationale of compression therapy in primary varicose veins, 2. the prescription of compression stockings in daily practice, 3. studies required in the future. Results: The main objective of prescribing compression stockings for patients with varicose veins is to improve subjective leg complaints and to prevent swelling after sitting and standing. No convincing data are available concerning prevention of progression or of complications. In daily practice varicose veins are the most common indication to prescribe compression stockings. The compliance depends on the severity of the disorder and is rather poor in less severe stages. Long-term studies are needed to proof the cost-effectiveness of compression stockings concerning subjective symptoms and objective signs of varicose veins adjusted to their clinical severity. Conclusion: Compression stockings in primary varicose veins are able to improve leg complaints and to prevent swelling.


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