Aims/hypothesis Increased renal mast cells have been detected in diabetic nephropathy. However, only a few patients have been examined. Evidence of the involvement of mast cells in diabetic nephropathy is still scarce, and no observation of mast cells during the development of diabetic nephropathy has yet been reported in humans. Here, we examined changes in renal mast cells in patients at different stages of diabetic nephropathy and related these to the development of the disease. Methods Eighty patients at different clinical stages of diabetic nephropathy and 16 normal kidney donors were recruited. Immunohistochemical staining for tryptase, chymase, TGF-β1, renin and TNF-α was done on renal sections from patients and control participants. Changes in mast cell number, degranulation, subtype and phenotype were examined. Correlation between mast cells and patients' clinical and pathological indices was analysed. Results With progression of diabetic nephropathy, the number and degranulation level of mast cells increased. Increase in mast cell number and degranulation level correlated significantly with tubular interstitial injury. Almost all renal mast cells in patients with diabetic nephropathy were found to produce chymase, renin, TGF-β1 and TNF-α. The level of TNF-α in mast cells increased with progression of diabetic nephropathy. Conclusions/interpretation This study suggests that mast cells are involved in development of diabetic nephropathy. Through release of bioactive substances, such as tryptase, chymase, TGF-β1, renin and TNF-α, into the tubular interstitium by degranulation, mast cells could promote renal inflammation and fibrosis, and thus contribute to diabetic nephropathy.

We assessed the accuracy of a wrist-worn device WatchPAT 200 for the diagnosis of obstructive sleep apnea (OSA) and sleep and wakefulness indicators compared to standard polysomnography (PSG) using American Academy of Sleep Medicine (AASM) criteria. Twenty-eight adults with suspected OSA underwent a standard in-hospital PSG while wearing a WatchPAT 200. PSG events were manually scored using AASM criteria; WatchPAT 200 data were collected and analyzed by an automatic algorithm. The accuracy of WatchPAT 200 algorithm in apnea hypopnea index (AHI) and sleep-wake detection was compared to standard PSG methodology. The study population consisted of 21 males and 7 females, mean age of 47.45 ± 13.46 years, and mean body mass index of 29.99 ± 5.74 kg/m(2). For AHI, the mean PSG score for events per hour was 23.00 ± 21.55 compared to a mean score of 25.99 ± 19.09 for WatchPAT (r = 0.92, P < 0.001). The agreement of the sleep-wake assessment based on 30-s bins between the PSG and the WatchPAT was 89 ± 6 %. WatchPAT 200 detected OSA based on AHI with comparable accuracy, and provided a reasonably accurate estimation of sleep and wakefulness in patients with OSA on an epoch-by-epoch basis.

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The myosin VIIA (MYO7A) gene encodes a protein classified as an unconventional myosin. Mutations within MYO7A can lead to both syndromic and non-syndromic hearing impairment in humans. Among different mutations reported in MYO7A, only five led to non-syndromic sensorineural deafness autosomal dominant type 11 (DFNA11). Here, we present the clinical, genetic and molecular characteristics of two large Chinese DFNA11 families with either high-or low-frequency hearing loss. Affected individuals of family DX-J033 have a sloping audiogram at young ages with high frequency are most affected. With increasing age, all test frequencies are affected. Affected members of family HB-S037 present with an ascending audiogram affecting low frequencies at young ages, and then all frequencies are involved with increasing age. Genome-wide linkage analysis mapped the disease loci within the DFNA11 interval in both families. DNA sequencing of MYO7A revealed two novel nucleotide variations, c.652G4A (p.D218N) and c.2011G4A (p.G671S), in the two families. It is for the first time that the mutations identified in MYO7A in the present study are being implicated in DFNA11 in a Chinese population. For the first time, we tested electrocochleography (ECochG) in a DFNA11 family with low-frequency hearing loss. We speculate that the low-frequency sensorineural hearing loss in this DFNA11 family was not associated with endolymphatic hydrops.