Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency

Somatic mosaicism has been described in several primary immunodeficiency diseases and causes modified phenotypes in affected patients. X-linked anhidrotic ectodermal dysplasia with immunodeficiency (XL-EDA-ID) is caused by hypomorphic mutations in the NF-κB essential modulator (NEMO) gene and manifests clinically in various ways. We have previously reported a case of XL-EDA-ID with somatic mosaicism caused by a duplication mutation of the NEMO gene, but the frequency of somatic mosaicism of NEMO and its clinical impact on XL-EDA-ID is not fully understood. In this study, somatic mosaicism of NEMO was evaluated in XL-EDA-ID patients in Japan. Cells expressing wild-type NEMO, most of which were derived from the T-cell lineage, were detected in 9 of 10 XL-EDA-ID patients. These data indicate that the frequency of somatic mosaicism of NEMO is high in XL-ED-ID patients and that the presence of somatic mosaicism of NEMO could have an impact on the diagnosis and treatment of XL-ED-ID patients.     

Power Doppler ultrasonography is useful for assessing disease activity and predicting joint destruction in rheumatoid arthritis patients receiving tocilizumab—preliminary data

To evaluate the responsiveness of power Doppler ultrasonography (PDUS) in comparison with conventional measures of disease activity and structural damage in rheumatoid arthritis (RA) patients receiving tocilizumab (TCZ). Seven RA patients with active arthritis were enrolled in the study and prospectively monitored for 12 months. They were treated with TCZ (8 mg/kg) every 4 weeks as monotherapy or in combination with disease-modifying antirheumatic drugs (DMARDs). Clinical, laboratory, and ultrasound examinations were conducted at baseline, 1, 3, 6, 9, and 12 months. Power Doppler (PD) signals were graded from 0 to 3 in 24 joints, and total PD score was calculated as the sum of scores of individual joints. One-year radiographic progression of the hands was estimated by using Genant-modified Sharp scoring. The averages of the clinical parameters rapidly improved, and all patients achieved good response within 6 months based on standard 28-joint Disease Activity Score (DAS28). Although the average total PD score declined in parallel with clinical improvement, radiography of the hands showed progression of destruction in the joints where PD signals remained, even among clinical responders. ΔSharp score correlated with the time-integrated value (TIV) of total PD scores (Δtotal Sharp score: r = 0.77, P = 0.04; Δerosion: r = 0.78, P = 0.04; Δjoint-space narrowing (JSN): r = 0.75, P = 0.05), but not with TIVs of clinical parameters including DAS28. PDUS can independently evaluate disease activity in RA patients receiving TCZ and is superior to DAS28, especially in predicting joint destruction.     

Investigation of the prognosis of patients with papillary thyroid carcinoma by tumor size

In papillary thyroid carcinoma (PTC), extrathyroid extension (Ex) and clinical lymph node metastasis (N) significantly affect the prognosis. We investigated the prognosis of patients with PTC 1 cm or less (1,220 patients), 1.1-2 cm (2,101 patients), 2.1-3 cm (1,249 patients), 3.1-4 cm (645 patients), and larger than 4 cm (563 patients). We classified N factor into three categories: N0, no clinical node metastasis: N1, clinical node metastasis smaller than 3 cm and without extranodal tumor extension requiring at least partial excision of adjacent organs for node dissection: and N2, clinical node metastasis 3 cm or larger or showing extranodal tumor extension. N2 markedly affected lymph node and distant recurrence-free survivals and cause-specific survival, regardless of the tumor size. N1 also adversely affected lymph node and distant recurrence-free survival but not cause-specific survival. Ex did not affect patients' prognosis with PTC 1 cm or less. It became a prognostic factor with PTC larger than 1 cm, and worsened lymph node and distant recurrence-free survival not only for N0 but also for N1 PTC larger than 3 cm and larger than 2 cm, respectively. However, its influence is limited for N2 PTC patients. Furthermore, Ex worsened the CSS with PTC larger than 2 cm in combination with N2. We have to note that the prognostic significance for lymph node and distant recurrence-free and cause-specific survival of Ex and N varies according to the tumor size in order to accurately predict the clinical outcomes and establish therapeutic strategies for PTC patients.     

Butyrylcholinesterase level as an independent prognostic factor for overall survival in patients on maintenance hemodialysis: a single-center retrospective study

Clinical and Experimental Nephrology - We investigated whether butyrylcholinesterase (BChE) was independently related to the overall survival (OS) of patients on maintenance hemodialysis (MHD)....     

Coronary artery calcium score and CT angiography in asymptomatic elderly patients with high pretest probability for coronary artery disease

Purpose

To evaluate the role of coronary artery calcium scoring (CACS) and/or coronary CT angiography (CCTA) in asymptomatic elderly patients with high pretest probability for coronary artery disease (CAD).

Materials and methods

Forty-eight consecutive asymptomatic elderly (>65 years) subjects who had a high pretest probability and underwent CACS/CCTA were included. Each CCTA was evaluated for adequacy for assessment of coronary stenosis. Significant stenosis (>50 % diameter narrowing) was assessed on evaluable CT images and by invasive catheter angiography (ICA).

Results

All subjects were men with mean CACS of 880 ± 1779. Among those with low (0–99), intermediate (100–399), and high (400–999) CACS, ICA-verified significant stenosis was present in 8 % (1/13), 23 % (2/13), and 67 % (8/12), respectively. Among those with very high CACS (≥1000) (n = 10), 90 % of CCTAs were not evaluable for stenosis.

Conclusion

In asymptomatic elderly subjects with high pretest probability, CACS followed by CCTA may be considered for those with intermediate to high CACS.