Clinical Phenotype in an Early-Onset French Pediatric Population: Charcot–Marie–Tooth's Disease Type 2A

2021 ◽  
Author(s):  
C. Majorel-Beraud ◽  
E. Baudou ◽  
U. Walther-Louvier ◽  
C. Espil-Taris ◽  
P. Beze-Beyrie ◽  
...  
Keyword(s):  
Early Onset ◽  
Pediatric Population ◽  
Genetic Diagnosis ◽  
Disease Type ◽  
Severe Phenotype ◽  
Mitofusin 2 ◽  
Motor Autonomy ◽  
Onset Group ◽  
Early Onset Group ◽  
New Mutations

AbstractCharcot–Marie–Tooth's disease type 2A (MCT2A), induced by mutation of the mitofusin 2 (MFN2) gene represents the main cause of MCT2. The aim of this study is to provide details of the clinical and electromyographic phenotype of MCT2A in a pediatric population. We conducted a French multicenter retrospective study, including all children with a genetic diagnosis of MCT2A. Thirteen MCT2A children were included with a beginning of symptoms before the age of 10 years (“early-onset group”). We report two new mutations: c.1070 A → T (p.Lys357.Met) and c.280 C → G (p.Arg94Gly). The evolution of the disease is marked by a fast worsening for three patients with loss of motor autonomy, while the evolution is relatively stable for eight patients. The group of early-onset MCT2A seems more heterogeneous than previously described, with a nonconstant severe phenotype.

Intrapartum chemoprophylaxis of early-onset group B streptococcal disease

1991 ◽  
Vol 40 (1) ◽  
pp. 57-62 ◽  
Author(s):  
R. Matorras ◽  
A. García-Perea ◽  
F. Omeñaca ◽  
M. Diez-Enciso ◽  
R. Madero ◽  
...  
Keyword(s):  
Early Onset ◽  
Streptococcal Disease ◽  
Group B Streptococcal Disease ◽  
Group B ◽  
Onset Group ◽  
Early Onset Group

scholarly journals Differences in Clinical and Dietary Characteristics, Serum Adipokine Levels, and Metabolomic Profiles between Early- and Late-Onset Gout

Metabolites ◽  
2021 ◽  
Vol 11 (6) ◽  
pp. 399
Author(s):  
Young Sun Suh ◽  
Hae Sook Noh ◽  
Hyun-Jin Kim ◽  
Yun-Hong Cheon ◽  
Mingyo Kim ◽  
...  
Keyword(s):  
Early Onset ◽  
Late Onset ◽  
Clinical Information ◽  
Plasminogen Activator Inhibitor ◽  
Ultra Performance Liquid Chromatography ◽  
Plasminogen Activator Inhibitor 1 ◽  
Baseline Serum ◽  
Onset Group ◽  
Early Onset Group ◽  
Pai 1

This study aimed to identify differences in clinical and dietary characteristics, serum adipokine levels, and metabolomic profiles between early- and late-onset gout. Eighty-three men with gout were divided into an early-onset group (n = 38, aged < 40 years) and a late-onset group (n = 45, aged ≥ 40 years). Dietary and clinical information was obtained at baseline. Serum adipokines, including adiponectin, resistin, leptin, and plasminogen activator inhibitor-1 (PAI-1), were quantified by a Luminex multiplex immunoassay. Metabolite expression levels in plasma were measured in 22 representative samples using metabolomics analysis based on ultra-performance liquid chromatography coupled with quadrupole time-of-flight mass spectrometry. Average body mass index, rate of consumption of sugar-sweetened beverages, and serum uric acid levels were significantly higher in the early-onset group (p < 0.05), as was the PAI-I concentration (105.01 ± 42.45 ng/mL vs. 83.76 ± 31.16 ng/mL, p = 0.013). Changes in levels of metabolites mostly involved those related to lipid metabolism. In the early-onset group, acylcarnitine analog and propylparaben levels were downregulated and negatively correlated with the PAI-1 concentration whereas LPC (22:6) and LPC (18:0) levels were upregulated and positively correlated with the PAI-1 concentration. Dietary and clinical features, serum adipokine concentrations, and metabolites differed according to whether the gout is early-onset or late-onset. The mechanisms of gout may differ between these groups and require different treatment approaches.

Decreasing mortality in neonates with early-onset group B streptococcal infection: Reality or artifact

1981 ◽  
Vol 98 (4) ◽  
pp. 625-627 ◽  
Author(s):  
Suma P. Pyati ◽  
Rosita S. Pildes ◽  
Rajam S. Ramamurthy ◽  
Norman Jacobs
Keyword(s):  
Early Onset ◽  
Streptococcal Infection ◽  
Group B ◽  
Onset Group ◽  
Early Onset Group

scholarly journals Continued early onset group B streptococcal infections in the era of intrapartum prophylaxis

2008 ◽  
Vol 29 (1) ◽  
pp. 20-25 ◽  
Author(s):  
L S Pulver ◽  
M M Hopfenbeck ◽  
P C Young ◽  
G J Stoddard ◽  
K Korgenski ◽  
...  
Keyword(s):  
Early Onset ◽  
Streptococcal Infections ◽  
Group B ◽  
Onset Group ◽  
Early Onset Group

scholarly journals THE INFLUENCE OF LEUKOPENIA ON SURVIVAL IN EARLY ONSET GROUP B STREPTOCOCCAL SEPSIS

1977 ◽  
Vol 11 (4) ◽  
pp. 497-497
Author(s):  
Robert P Bacsik ◽  
Larry N Cook ◽  
Roger J Shott ◽  
Billy F Andrews
Keyword(s):  
Early Onset ◽  
Streptococcal Sepsis ◽  
Group B ◽  
Onset Group ◽  
Early Onset Group

The Evolution of Dementia in Idiopathic Parkinson's Disease: Neuropsychological and Clinical Evidence in Support of Subtypes

1992 ◽  
Vol 4 (4) ◽  
pp. 147-160 ◽  
Author(s):  
Wayne G. J. Reid
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Early Onset ◽  
Late Onset ◽  
Age At Onset ◽  
Critical Determinant ◽  
Drug Study ◽  
Baseline Phase ◽  
Onset Group ◽  
Early Onset Group

One hundred and seven newly diagnosed, untreated patients with Parkinson's disease (PD) were divided into two groups according to their age at reported onset of symptoms. Of these, 79 patients were under age 70 (early-onset) and 28 patients were age 70 and over (late-onset). The group of 50 control subjects comprised spouses, friends of the PD patients, and community volunteers. The patients were participants in a multicenter drug study of Parkinson's disease. Each had received a detailed neurological and neuropsychological assessment in the baseline placebo phases of the study. Thirty-4 patients with early-onset and 12 patients with late-onset were reassessed 3 years after treatment with low-dose levodopa, with bromocriptine, or with a combination of the two drugs. The results of the baseline phase of the study revealed that 8% of the early-onset group and 32% of the late-onset group were classified as demented. The 3-year follow-up revealed that the prevalence of dementia had increased to 17% in the early-onset group and to 83% in the late-onset group. This study confirms that at least two distinct subtypes of Parkinson's disease exist. The subtypes differ both clinically and neuropsychologically. The age at onset of symptoms is a critical determinant of the rate and type of cognitive decline in Parkinson's disease.

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