Search results for "onset."

Hereditary angio-oedema with normal C1 inhibitor in a family with affected women and men

2005

Recurrent angio-oedema is a sign of various acquired and inherited disease entities, including hereditary angio-oedema types I and II that result from a genetic deficiency of C1 inhibitor, and a recently described type of dominantly inherited angio-oedema, which does not show a deficiency of C1 inhibitor. Until now, this new type of hereditary angio-oedema, designated as hereditary angio-oedema type III, has been assumed to be a disorder specific to females. We now describe a four-generation family with dominantly inherited angio-oedema and normal C1 inhibitor in which, in contrast to all previous observations, not only five female but also three male family members were clinically affected…

Disease severity affects quality of life of hereditary spastic paraplegia patients

2011

Background and purpose: Hereditary spastic paraplegia (HSP) causes progressive gait disturbance because of degeneration of the corticospinal tract. To assess its impact on Health-Related Quality of Life (HRQoL), we analyzed the correlation of HRQoL with disease severity and clinical symptoms in HSP. Methods: HRQoL was assessed by the Short-Form 36 (SF-36) Mental and Physical Component summary scores (MCS and PCS) in 143 German patients with HSP. Disease severity was assessed by the Spastic Paraplegia Rating Scale (SPRS) and landmarks of walking ability. Patients with ! pure" or ! complicated" HSP were compared. Results: Higher SPRS scores indicating higher disease severity correlated signif…

HLA antigens and immunoresponsiveness to insulin in insulin-dependent diabetes mellitus.

2008

HLA-A and B antigens were determined in 112 patient with insulin-dependent juvenile onset diabetes mellitus, who could be subdivided into “non” and “high responders” to insulin. The data revealed a trend of an association of these diabetes subgroups with only one of the diabetes-associated antigens HLA-B8 and HLA-BW15 and indicated the existence of at least two different genetic constellations for susceptibility to juvenile diabetes mellitus. One form with a strong immune-response to insulin seemed to be associated with HLA-BW 15 and the other form without humoral immunoreactivity to insulin seemed to be associated with the presence of HLA-B8 and the absence of HLA-B7.

THU0582 Prognostic Factors of Macrophage Activation Syndrome in Adults: Analysis of 40 Cases in 2 Tertiary Referral Centers

2016

Background Macrophage activation syndrome (MAS) is a rare, life-threatening disease in which early diagnosis and aggressive therapeutic strategy may improve the outcome [1]. Due to its rarity, epidemiologic data are still lacking. Hyperferritinemia is frequently associated with MAS and might modulate the cytokines storm the latter contributing to the development of multi-organ failure [2]. Objectives In the current study, we aimed to investigate clinical data, treatments, and outcome of adult MAS patients secondary to autoimmune rheumatic disease. Methods We retrospectively investigated clinical data, treatments, and outcome of 40 adult MAS patients secondary to autoimmune rheumatic disease…

Mathematical simulation of Doppler changes in late-onset smallness; progression patterns of cerebral and umbilical anomalies define two types of late…

2019

To evaluate the progression of Doppler abnormalities in fetuses with late-onset fetal smallness (SGA) that become growth restricted (FGR).524 Doppler examinations of the umbilical and cerebral arteries systems, belonging to 442 late-onset SGA fetuses after week 34, were studied, evaluating by means of the statistical difference with the respective abnormal centiles, the pattern of progression into abnormal Doppler values and the distribution and cumulative sum of Doppler anomalies according to the interval to delivery.Only one third (33.5%,Two thirds of late-onset fetal smallness occurs without hemodynamic changes. In half of the remaining cases an initial cerebral vasodilation defines a gr…

Response to Letter to the Editor: Outcome of Bleb Revision With Autologous Conjunctival Graft Alone or Combined With Donor Scleral Graft for Late-ons…

2021

Anderson‐Fabry Disease: A Rare Cause of Levodopa‐Responsive Early‐Onset Parkinsonism

2021

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Acupressure therapy for insomnia in adolescents: a polysomnographic study

2013

Marco Carotenuto,1 Beatrice Gallai,2 Lucia Parisi,3 Michele Roccella,3 Maria Esposito11Sleep Clinic for Developmental Age, Clinic of Child and Adolescent Neuropsychiatry, Second University of Naples, Naples, 2Unit of Child and Adolescent Neuropsychiatry, University of Perugia, Perugia, 3Child Neuropsychiatry, Department of Psychology, University of Palermo, Palermo, ItalyBackground: The purpose of this study was to assess the efficacy of acupressure therapy in a sample of adolescents with insomnia using a standard polysomnographic evaluation.Methods: For this study, 25 adolescents affected by psychophysiological insomnia (mean age 15.04 ± 1.18 years, 12 boys) were enrolled. A dev…

Survival and developmental milestones among Pompe registry patients with classic infantile-onset Pompe disease with different timing of initiation of…

2014

s S62 strength in the arms (pulls self to stand: 72% vs 47%) and legs (bears weight on legs: 79% vs 66%). Results were similar when patients from Taiwan, who may have been identifi ed by newborn screening and not clinical diagnosis, were excluded. Earlier initiation of ERT in classic IOPD patients appears to improve the chances of survival and leads to better retention of muscle strength and improvement of symptoms in these young patients affected most severely by Pompe disease.

American College of Rheumatology Provisional Criteria for Clinically Relevant Improvement in Children and Adolescents With Childhood-Onset Systemic L…

2019

OBJECTIVE: To develop a Childhood Lupus Improvement Index (CHILI) as a tool to measure response to therapy in childhood-onset systemic lupus erythematosus (cSLE), with a focus on clinically relevant improvement (CRIc SLE ). METHODS: Pediatric nephrology and rheumatology subspecialists (n = 213) experienced in cSLE management were invited to define CRIc SLE and rate a total of 433 unique patient profiles for the presence/absence of CRIc SLE . Patient profiles included the following cSLE core response variables (CRVs): global assessment of patient well-being (patient-global), physician assessment of cSLE activity (MD-global), disease activity index score (here, we used the Systemic Lupus Eryt…