We diagnosed our cases as familial generalized AN caused by heterozygous c.1949A>C (p.K650T) mutation of FGFR3. We propose that GA peeling is a useful and safe therapeutic option to treat familial AN.
Background Kimura’s disease (KD) is known to be dominant among young Asian men, but it can also occur in middle- and advanced-aged people. The clinical characteristics of KD, especially by age, are not well known. Aim This study was performed to investigate the effects of age on the clinical characteristics of KD. Design We conducted a case series study. Methods All case studies of patients diagnosed with KD were collected via a PubMed search of studies published until August 2018. The data were analyzed by age group. Results In total, 215 studies were reviewed (238 patients; mean age of 36 years). The male:female ratio was 4:1 overall, 17:1 in patients aged <20 years, 4:1 in patients aged 20–39 years and 2:1 in patients aged ≥40 years (P = 0.01). The percentage of patients with pruritus was 15.4% overall, 3.8% in patients aged <20 years, 15.5% in patients aged 20–39 years and 21.7% in patients aged ≥40 years (P = 0.02). The time to diagnosis was 5.3 years overall, 3.2 years in patients aged <20 years, 4.7 years in patients aged 20–39 years and 7.1 years in patients aged ≥40 years (P < 0.01). Conclusions The proportion of female patients affected the incidence of pruritus, and the time to diagnosis increased as the patients’ age increased. There were no significant age-related differences in region/race, complications, multiplicity, laterality, anatomical distribution, maximum size, eosinophil count, immunoglobulin E level, initial treatment, recurrence or outcomes. This may be useful information for the diagnosis of KD.
Study Design-In vivo measurement of lumbar facet joint surface area.Objectives-To investigate lumbar facet joint surface area in relation to age and the presence of chronic low back pain.Summary of Background Data-Facet joint surface area is an important parameter for understanding facet joint function and pathology, but information on the lumbar facet joint is limited especially in relation with age and low back pain symptoms.Methods-In vivo measurements of the lumbar facet joints (L3/L4-L5/S1) were performed on 90 volunteers (57 asymptomatic subjects, 33 chronic low back pain subjects) using subject-based three-dimensional facet joint surface CT models.Results-The facet joint surface area increased significantly at each successive inferior level. In the low back pain subjects over 40 years old, both superior and inferior facet surface areas increased except superior facets at L5/S1 compared to younger subjects. In the asymptomatic subjects over 40 years old, only the superior facets showed an increase in the L3/4 facet surface area compared to younger subjects. Conclusions-The lumbar facet areas measured in vivo in the current study were similar to previous cadaveric studies. The lumbar facet area was significantly greater at the inferior lumbar levels and also increased with age. This age related increase in the facet joint surface was observed more in the low back pain subjects compared to asymptomatic subjects. The increase in the area of the facet joint surface is probably secondary to increased load-bearing in the lower lumbar segments and facet joint osteoarthritis.
Autoimmune epilepsy (AE) is an inflammatory disease of the central nervous system with symptoms that have seizures that are refractory to antiepileptic drugs. Since the diagnosis of AE tends to rely on a limited number of anti-neuronal antibody tests, a more comprehensive analysis of the immune background could achieve better diagnostic accuracy. This study aimed to compare the characteristics of anti-neuronal antibody-positive autoimmune epilepsy (AE/Ab(+)) and antibody-negative suspected autoimmune epilepsy (AE/Ab(-)) groups. A total of 23 patients who met the diagnostic criteria for autoimmune encephalitis with seizures and 11 healthy controls (HC) were enrolled. All patients were comprehensively analyzed for anti-neuronal antibodies; 13 patients were identified in the AE/Ab(+) group and 10 in the AE/Ab(-) group. Differences in clinical characteristics, including laboratory and imaging findings, were evaluated between the groups. In addition, the immunophenotype of peripheral blood mononuclear cells (PBMCs) and CSF mononuclear cells, particularly B cells and circulating Tfh (cTfh) subsets, and multiplex assays of serum and CSF were analyzed using flow cytometry. Patients with AE/Ab(+) did not show any differences in clinical parameters compared to patients with AE/Ab(-). However, the frequency of plasmablasts within PBMCs and CSF in patients with AE/Ab(+) was higher than that in patients with AE/Ab(-) and HC, and the frequency of cTfh17 cells and inducible T-cell co-stimulator (ICOS) expressing cTfh17 cells within cTfh subsets was higher than that in patients with AE/Ab(-). Furthermore, the frequency of ICOShighcTfh17 cells was positively correlated with that of the unswitched memory B cells. We also found that IL-12, IL-23, IL-6, IL-17A, and IFN-γ levels were elevated in the serum and IL-17A and IL-6 levels were elevated in the CSF of patients with AE/Ab(+). Our findings indicate that patients with AE/Ab(+) showed increased differentiation of B cells and cTfh subsets associated with antibody production. The elevated frequency of plasmablasts and ICOS expressing cTfh17 shift in PBMCs may be indicative of the presence of antibodies in patients with AE.
Study Design-In vivo measurement of lumbar facet joint surface area.Objectives-To investigate lumbar facet joint surface area in relation to age and the presence of chronic low back pain.Summary of Background Data-Facet joint surface area is an important parameter for understanding facet joint function and pathology, but information on the lumbar facet joint is limited especially in relation with age and low back pain symptoms.Methods-In vivo measurements of the lumbar facet joints (L3/L4-L5/S1) were performed on 90 volunteers (57 asymptomatic subjects, 33 chronic low back pain subjects) using subject-based three-dimensional facet joint surface CT models.Results-The facet joint surface area increased significantly at each successive inferior level. In the low back pain subjects over 40 years old, both superior and inferior facet surface areas increased except superior facets at L5/S1 compared to younger subjects. In the asymptomatic subjects over 40 years old, only the superior facets showed an increase in the L3/4 facet surface area compared to younger subjects. Conclusions-The lumbar facet areas measured in vivo in the current study were similar to previous cadaveric studies. The lumbar facet area was significantly greater at the inferior lumbar levels and also increased with age. This age related increase in the facet joint surface was observed more in the low back pain subjects compared to asymptomatic subjects. The increase in the area of the facet joint surface is probably secondary to increased load-bearing in the lower lumbar segments and facet joint osteoarthritis.
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