Objective To investigate the clinical features of and GJB2 gene mutations in a Chinese Han patient with keratitis-ichthyosis-deafness syndrome (KID syndrome),in hope to offer evidence for the clinical and genetic diagnosis of KID syndrome.Methods Clinical data were collected from a patient with KID syndrome.DNA was extracted from peripheral blood of the patient and his two family members (mother and brother).PCR was performed to amplify the exon 2 and its flanking splicing sites of GJB2 gene followed by bidirectional direct DNA sequencing. Results The patient presented with the typical triad of vascularizing keratitis,ichthyosis and congenital deafness.A G148A mutation in the exon 2 of GJB2 gene,resulting in the substitution of aspartic acid by asparagine at position 50 of the junction protein connexin 26 (Cx26),was identified in the patient,but not in either of his family members.Conclusion The G148A mutation in GJB2 gene may be responsible for the clinical phenotype of KID syndrome in this Chinese patient.

Objective To establish a human keratinocyte cell line (HaCaT) stably expressing HPV16E7 protein. Methods HPV16E7 gene was amplified from CaSki cells using PCR and inserted into the eukaryotic expression plasmid pcDNA3.1. Then, the recombinant expression plasmid pcDNA3.1-HPV16E7 was transfected into HaCaT cells followed by G418 selection and identification by RT-PCR and Western blot. Results The recombinant eukaryotic expression plasmid pcDNA3.1-HPV16E7 was successfully identified by restriction enzyme digestion pattern and sequence analysis. Agarose gel electrophoresis of RT-PCR products detected the 297-bp fragment of HPV16E7 cDNA, and Western blot confirmed the stable expression of HPV16E7 protein. Conclusion A human keratinocyte cell line (HaCaT) stably expressing HPV16E7 protein is successfully established.

Objective To evaluate the efficacy of light-emitting diode (LED) irradiation at 530 nm,630 nm and 850 nm in the treatment of photoaged skin.Methods A total of 14 adults with photoaged extensor forearm were recruited in this study.Three areas were selected at the extensor forearm in each of these subjects and received LED irradiation at 530 nm,630 nm and 850 nm,respectively,thrice a week for 12 sessions.Dermoscopy was used to visualize these areas before and after the irradiation,the Corueometer CM 825 to measure stratum corneum (SC) hydration,Tewameter TM 300 to determine transepidermal water loss (TEWL),and CM-2600d spectrophotometer to measure L* value and melanin index (MI).Tissue specimens were obtained from these areas irradiated with LED at 530 nm (n =5),630 nm (n =5) and 850 nm (n =4) separately before and 6 weeks after the initial irradiation,and subjected to histopathological examination.Results Both skin texture and pigmentation were improved in 10 and 7 testees after 12 sessions of LED irradiation at 630 nm and 850 nm,respectively,but the skin texture became rougher and pigmentation was increased in 7 testees after LED irradiation at 530 nm.After LED irradiation at 630 nm and 850 nm,the testees experienced an obvious increase in SC hydration ((37.9 ± 7.7) au and (34.5 ± 7.1) au at 6 weeks after the initial irradiation vs.(33.1 ± 6.1) au and (32.0 ± 7.0) au before irradiation,both P ＜ 0.05),but a significant decrease in TEWL value ((9.8-± 2.5) and (10.9 ± 2.5) g·m-2·h-1 at 6 weeks after the initial irradiation vs.(14.0 ± 1.8) and (14.2 ± 2.6) g·m-2·h-1 before irradiation),with no significant changes in L* value or MI (both P ＞ 0.05).No evident alteration was observed in SC hydration or TEWL value (both P ＞ 0.05),while the L* value significantly decreased (P ＜ 0.05) and MI increased (P ＜ 0.05) after LED irradiation at 530 nm.Histopathological examination showed photo-induced denaturation of collagen fibers and elastic fibers in the dermis of these subjects before irradiation,as well as nascent collagen fibers and elastic fibers in a more dense and regular arrangement after irradiation at the three wavelengths.Conclusions LED irradiation at both 630 nm and 850 nm can improve the appearance and barrier function of,and stimulate the proliferation and rearrangement of collagen fibers and elastic fibers in,photoaged skin,while LED irradiation at 530 nm increases skin pigmentation.

Objective To investigate the elasticity of the radial artery wall in type 2 diabetes mellitus (T2DM) patients with elastosonography. Methods A total of 37 patients with T2DM and 42 normal subjects were studied with elastosonography. The systolic diameter (Ds) and diastolic diameter (Dd) of the radial artery were measured, and the strain ratio of the blood in the radial artery to the wall of the radial artery was calculated. Results The strain ratio of the radial artery in T2DM group was significantly higher than that in normal group (P＜0.05). There was no significant difference in Ds and Dd of the radial artery between T2DM group and the control group (P＞0.05). Conclusion The early change of the radial artery wall elasticity in patients with T2DM can be assessed with elastosonography.

Objective: To investigate the clinical characteristics, memory and neuroimaging features of nonlesional temporal lobe epilepsy (TLE-NL). Methods: Forty-four patients with TLE-NL and 53 patients with unilateral temporal lobe epilepsy with hippocampal sclerosis (TLE-HS) were recruited from the Second Affiliated Hospital of Zhejiang University from September 1st 2012 to August 31st 2017. The clinical characteristics were systematically analyzed and compared between TLE-NL and TLE-HS. Twenty healthy volunteers were also recruited. Memory assessment and high resolution magnetic resonance imaging (MRI) scanning were completed in the patients and healthy volunteers. Volume and shape of the hippocampus were compared between patients and healthy volunteers. Results: Compared with the TLE-HS, TLE-NL patients showed later seizure onset ((24.3±12.6) vs (15.8±10.3) years; t=3.684, P<0.01), shorter duration of epilepsy ((4.00 (2.00, 8.75)) vs (14.00 (7.50, 22.00)) years; Z=-4.675, P<0.01), less history of febrile convulsions (4.5% (2/44) vs 62.3% (33/53); χ²=32.270, P<0.01) and lower incidence of pharmacoresistant epilepsy (47.7% (21/44) vs 84.9% (45/53); χ²=15.282, P<0.01). However, there were no statistically significant differences between TLE-NL and TLE-HS in sex ratio, family history of epilepsy, lateralization of the epileptogenic zone, presence of aura, seizure types and seizure frequency. TLE-NL patients had normal memory quotient compared to normal controls (105.2±17.4 vs 103.8±16.2; P=1.000), while TLE-HS patients had significant memory impairment compared to normal controls (84.5±20.3 vs 103.8±16.2; P<0.01). Compared to normal controls, TLE-NL patients did not have significant alteration in hippocampal volume and shape, while TLE-HS patients had significant atrophy in the ipsilateral hippocampus ((2 953±481) mm³ vs (4 431±505) mm³; P<0.01), and shape analysis showed significant atrophy in the head and body of the hippocampus. Conclusion TLE-NL has different characteristics compared with TLE-HS, including later seizure onset, shorter duration of epilepsy, less history of febrile convulsions, better response to antiepileptic drugs, and no significant memory impairment and hippocampal atrophy.