That relationship may transcend strict syndromal diagnosis.”
“Objective

To report the auditory and vestibular phenotypes of patients with GATA3 mutation.

Study Design

Case series of 6 patients.

Setting

Tertiary referral center.

Patients

All patients had the classic triad of GATA3 deficiency: hypoparathyroidism, hearing loss, and renal dysplasia.

Patients (29-60 yr old;

mean age, PARP inhibitor cancer 42.5 yr; 3 male and 3 female subjects) were confirmed to have heterozygous mutations involving GATA3 by Sanger sequencing.

Interventions

Behavioral audiometry, distortion product otoacoustic emissions (DPOAEs), and auditory brainstem responses (ABRs) were used to assess hearing. Rotational vestibular testing was used to assess vestibular function.

Results

All patients with GATA3 mutation presented with hearing loss during childhood. The mean 3-frequency (0.5/1/2 kHz) pure tone average was 67 dB HL (range, 50-83 dB HL; SD, 9.3). The average speech discrimination score was 73% (range, 36%-100%; SD, 15.9). DPOAEs were absent in all patients. PKA inhibitor ABRs were remarkably robust and provided no evidence of retrocochlear dysfunction. Some patients complained of dizziness, but rotary

chair testing was normal across participants for whom testing occurred.

Conclusion

Patients with GATA3 mutation present with early-onset sensorineural hearing loss (SNHL). DPOAEs were absent, supporting outer hair cell dysfunction, whereas ABRs were present and robust. Rotational vestibular testing revealed no evidence of abnormal horizontal semicircular canal function.”
“Background: The variation of immune cell activities over time is an immanent property of the human immune system, as can be measured by the stimulated secretion of cytokines

in cell cultures. However, inter-individual variability is considerably higher. Especially the latter is the major reason why it has not been possible to establish international standard values for cytokines as was possible for other parameters, such as leukocyte sub-population numbers. In this trial, a highly standardized whole-blood culture model (TrueCulture (R)), developed to characterise drug effects on cells of the human immune system in clinical trials, was used to analyse cytokine patterns in the blood samples of 12 healthy subjects over a period of one month.

Methods: After an overnight fast, 12 healthy learn more subjects donated blood three times a week on three consecutive days over a period of 4 weeks. TruCulture (R) blood collection and whole-blood culture systems were used to measure whole-blood leukocyte stimulation. The levels of IL-2, IL-5, IL-13, IL-6, IL-8, IL-10, IFN gamma, and MCP-1 in the culture supernatants were quantified by sandwich ELISA.

Results: The pattern of cytokine concentrations in the supernatants of the stimulated whole-blood cultures was highly individual, but considerably stable over the whole observation period of 4 weeks.