Objective:To investigate clinical characteristics and genetic variations in a case of self-improving collodion ichthyosis in the adult stage.Methods:An adult patient with clinically suspected self-improving collodion ichthyosis was collected from the Department of Dermatology, Henan Provincial People′s Hospital in April 2023. Clinical data were collected from the patient and her parents. Peripheral blood samples were obtained from them, and whole blood DNA was extracted. Whole-exome sequencing was performed to screen genetic variation sites, which were then verified by Sanger sequencing. The deleteriousness of the identified variants was assessed using pathogenicity analysis software.Results:The 54-year-old female patient presented with facial and neck flushing, mild dry skin on the trunk and limbs, sheepskin-like skin of the dorsal hand, and short fingers. Genetic testing identified two in-frame deletion mutations c.406_408del (p.E136del) and c.769_801del (p.H257_Q267del) in the non-repetitive region of the ALOX12B gene in the patient, which were inherited from her father and mother respectively. Bioinformatics analysis revealed that both genetic variations were deleterious pathogenic mutations.Conclusions:Two in-frame deletion mutations c.406_408del (p.E136del) and c.769_801del (p.H257_Q267del) were identified in the non-repetitive region of the ALOX12B gene in the patient with self-improving collodion ichthyosis, which may contribute to the clinical phenotype of the patient. The mutation c.769_801del had not been reported in literature.

Objective:To investigate clinical characteristics and genetic variations in a case of self-improving collodion ichthyosis in the adult stage.Methods:An adult patient with clinically suspected self-improving collodion ichthyosis was collected from the Department of Dermatology, Henan Provincial People′s Hospital in April 2023. Clinical data were collected from the patient and her parents. Peripheral blood samples were obtained from them, and whole blood DNA was extracted. Whole-exome sequencing was performed to screen genetic variation sites, which were then verified by Sanger sequencing. The deleteriousness of the identified variants was assessed using pathogenicity analysis software.Results:The 54-year-old female patient presented with facial and neck flushing, mild dry skin on the trunk and limbs, sheepskin-like skin of the dorsal hand, and short fingers. Genetic testing identified two in-frame deletion mutations c.406_408del (p.E136del) and c.769_801del (p.H257_Q267del) in the non-repetitive region of the ALOX12B gene in the patient, which were inherited from her father and mother respectively. Bioinformatics analysis revealed that both genetic variations were deleterious pathogenic mutations.Conclusions:Two in-frame deletion mutations c.406_408del (p.E136del) and c.769_801del (p.H257_Q267del) were identified in the non-repetitive region of the ALOX12B gene in the patient with self-improving collodion ichthyosis, which may contribute to the clinical phenotype of the patient. The mutation c.769_801del had not been reported in literature.

ObjectiveTo evaluate the clinical effectiveness and safety of Bairui Granules （百蕊颗粒） in the treatment of acute pharyngitis with wind-heat syndrome. MethodsA multicenter， double-blind， double-simulation， randomised controlled trial was conducted， in which 162 patients with acute pharyngitis and wind-heat syndrome from 7 centers were recruited， and each center was divided into trial group and control group on the ratio of 2∶1. In the trial group， 108 cases were orally administered with Bairui Granules plus Reyanning Granules （热炎宁颗粒） simulant， and in the control group， 54 cases were orally administered with Reyanning Granules plus Bairui Granules simulant for 5 days， with a follow-up visit on the 6th day. Full analysis set （FAS） analysis and per protocol set （PPS） were used for analysis， respectively. The primary efficacy index was the disappearance rate of sore throat after 5-day treatment； the secondary efficacy indexes were the disappearance rate of sore throat after 3-day treatment， as well as the visual analogue score （VAS） of sore throat before treatment， every day during the treatment， and follow-up on day 6， and the traditional Chinese medicine （TCM） syndrome score was performed before treatment and at the follow-up on day 6. The effectiveness on TCM syndrome was evaluated at the follow-up on day 6， and the changes of vital signs， blood routine， urine routine， liver functions， kidney function， the adverse events before and after the treatment were recorded， and safety analysis set （SS） was analysed. Results162 patients entered the FAS and SS analyses， and 158 cases （105 cases in the trial group and 53 cases in the control group） entered the PPS analysis. FAS analysis showed that the disappearance rate of sore throat after 5-day treatment was 80.56% （87/108） in the trial group and 64.81% （35/54） in the control group， and the difference between groups was statistically significant （χ² = 5.10， P = 0.0239）. PPS analysis showed that the disappearance rate of sore throat after 5-day treatment was 80.00% （84/105） in the trial group and 64.15% （34/53） in the control group， and the difference between groups was statistically significant （χ² =4.85， P = 0.0277）. FAS and SS analyses both showed that the difference in disappearance rate of sore throat between groups on 3-day treatment was not statistically significant （P＞0.05）. Compared with those before treatment， the VAS scores of sore throat were lower in both groups during treatment on day 2， 3， 4， 5， and follow-up on day 6 （P＜0.01）， but the difference between groups at each time point was not statistically significant （P＞0.05）. TCM syndrome scores of both groups at the follow-up were lower than that before treatment， and those of the trial group were lower than those of the control group （P＜0.01）. The cure rate and effective rate of TCM syndrome of the trial group were significantly higher than those of the control group （P＜0.01）. There was no significant difference in blood routine， urine routine， liver function， kidney function between groups before and after treatment （P＞0.05）， and no serious adverse events occured in both groups. ConclusionBairui Granules showed clinical effectiveness in the treatment of acute pharyngitis of wind-heat syndrome， and it could significantly improve the clinical symptoms， accelerate the disappearance time of sore throat with good safety.

Objective:To investigate the feasibility and adverse reactions of simultaneous integrated boost (SIB) in volumetric modulated arc therapy (VMAT) for early breast cancer after breast-conserving surgery.Methods:A total of 67 patients with early breast cancer after breast-conserving surgery at Zhongshan People's Hospital from September 2019 to May 2021 were enrolled. All patients received VMAT-SIB to the whole breast and tumor bed. The total breast dose and tumor bed dose were 40.5Gy/15 times every 3 weeks and 48 Gy/15 every 3 weeks respectively. The exposure dose of organs at risk and acute adverse reactions of radiotherapy were evaluated.Results:The average doses of planning target volume of the whole brease (PTV WB) and planning target volume of the boost(PTV BOOST) were (42.0±2.1) Gy and (49.9±0.8) Gy, respectively. The V 95% and V 105% of PTV WB and PTV BOOST were (98.8±1.2)% and (31.4±11.3)%, (99.8±0.6)% and (22.9±10.2)%, respectively. The V 5Gy, V 20Gy, V 30Gy and mean dose (D mean) of ipsilateral lung were (52.4±12.0)%, (15.3±4.5)%, (6.7±2.2)% and (11.0±2.4) Gy respectively. The V 18Gy, V 40Gy and D mean of heart were 3.80% (0.48%,9.60%), 0 (0,0.16%) and (6.7±2.1) Gy respectively. At the end of radiotherapy, 19 patients (29%) of all 67 patients had no acute skin toxicity, 41 patients (61%) showed radiation erythema, 5 patients (7%) had radioactive dry peeling and 2 patients (3%) had wet peeling mainly located in the nipple, areola area and breast folds. None of the patients had grade 3-4 acute skin reactions. Breast swelling and breast pain were found respectively in 9 patients (13%) and 7 patients (10%). No local recurrence or distant metastases were observed during the follow-up period. The 2-year disease-free survival rate was 100%. Conclusions:VMAT combined with SIB is feasible in the treatment of early breast cancer. The adverse reactions of radiotherapy are mild and well tolerated.

Objective: To understand the current status of follow up of people living with HIV/AIDS by health service at grass root in rural area of Jiangxi province and related factors, and provide references for the promotion of the follow up by grass root health service. Methods: People living HIV/AIDS aged ≥18 years and diagnosed before 31 December 2017 in 6 townships of Xinjian, Yushan counties and Guixi city were included in the study in Jiangxi province. They had been followed up for more than one time after the first epidemiologic survey. The information about their demographic characteristics and HIV infection status were collected by using self-designed questionnaire. Univariate and multivariate logistic regression analyses were conducted to identify the factors that influencing the acceptance of follow up by grass root health service. Results: Of the 373 surveyed HIV infected subjects aged (53.06±16.15) years, 261 were males (70.0%, 261/373). Among the surveyed subjects, the illiteracy and people who received only primary school education accounted for 54.7% (204/373). The rate of follow up of the HIV infected subjects by grass root health service was 55.8% (208/373), and those through heterosexual contact were 58.5% (190/325). The multivariate regression analysis showed that the acceptance of follow up by grass root health service was higher in those who were farmers (OR=7.36, 95%CI: 2.52-21.45), had family support (OR=16.01, 95%CI: 2.25-49.73), didn’t worry about discrimination (OR=12.97, 95%CI: 4.75-35.42), trusted health care provider (OR=5.07, 95%CI: 2.19-11.76) and showed AIDS symptoms (OR=10.58, 95%CI: 2.25- 49.73). Conclusions The performance of follow up of people living with HIV/AIDS by grass root health service was well, suggesting it is a feasible management model. Being famer or not, family member supporting or not, worry about discrimination or not, trusting health care provider or not and showing AIDS symptoms or not were the main factors influencing the acceptance of follow up by grass root health service.

Objective To investigate the effect of platelet-rich plasma(PRP) on starting of AnxA1 gene and PPARγ gene of adipose-derived stem cells (ADSCs) in rabbit.Methods Epididymal adipose tissue stem cells from New Zealand white rabbits,and the cells identified by morphology and inducing differentiation,the cells were cultured to the fourth generation,PRP and PPP (platelet-poor plasma) were prepared by traditional centrifugal method from abdominal aortic of rabbit;ADSCs were cultured in culture medium containing PRP (experimental group),PPP (control group) and all medium (blank group) for each 5％ for 24 h,48h and 72 h.Cells of each group were dissociated and total RNA extracted.AnxA1 gene and PPARγ gene were detected by RT-PCR.Results Primary ADSCs of rabbit grew in the way of long spindle swirly.The results of oil red O and alizarin red staining of the ADSCs were positive.AnxA1 gene and PPARγ gene of experimental group significantly increased from the result of RT-PCR (P＜0.05).Conclusions PRP can promote proliferation of the ADSCs of rabbit and increase the expression of AnxA1 gene and PPARγ gene significantly.

Objective To investigate the safety and efficacy of embolization of inferior phrenic artery as nonbronchial systemic artery(NBSA) for hemoptysis.Methods Imaging and clinical data of 1 1 patients with inferior phrenic artery as NBSA were analyzed retrospectively, and complications and hemoptysis recurrence rate were recorded.Results Seven patients underwent enhanced CT examination and 4 patients underwent plain CT examination before embolization.Six of those patients who underwent enhanced CT examination were found abnormal arteries,and were confirmed as NBSA by angiography.The other 5 patients were found unmatch of lesion distribution and bronchial arteries during procedure,and inferior phrenic artery as NBSA were found by expanding angiography.All procedure were successfully performed,3 cases occurred hiccup and need not treatment.No serious complications occurred,such as incontinence and paraplegia.During (1 8.7 ± 1 3.8)months follow-up,only 1 patient recurrence of hemoptysis,and successful after conservative treatment,and the other 10 patients had no recurrence of hemoptysis.Conclusion The inferior phrenic artery as NBSA can induce hemoptysis.It is safe to embolization of the inferior phrenic artery,which can reduce the recurrent rate of hemoptysis.

Objective To explore the clinical value of the dual-low-dose with low tube voltage for head and neck CTA. Methods One hundred and sixty patients who were clinically suspected head and neck vascular disease underwent CTA procedure were propective selected, and whose body mass index (BMI) was also lower than 25 kg/m2. Forty cases were randomly selected as conventional group(120 kV,150 mAs, iodine 320 mg/ml), the other 120 cases were as the low dose group. The low dose group divided into three subgroups according to the random number table method, which were low iodine group (37 cases;120 kV,150 mAs, iodine 270 mg/ml), low tube voltage group (42 cases;100 kV,150 mAs, iodine 320 mg/ml) and low iodine and tube voltage group (41 cases;100 kV,150 mAs, iodine 270 mg/ml). The carotid bifurcated CT value, standard deviation (SD), signal-to-noise ratio (SNR), iodine intake and effective radiation dose (ED) of the four groups were recorded,all data undertook statistical analysis useing one-way ANOVA. Meanwhile, the subjective image quality score was applied to evaluate the image quality, and the differences among groups were compared by Wilcoxon signed ranks test. Results The image quality score were (2.85±0.19),(2.33 ± 0.34),(2.26 ± 0.32),(2.87 ± 0.22) in the four groups, and there was no statistical difference between groups(P>0.05).The carotid bifurcated CT value were respectively (380±30),(314±27),(514±52) and (425±28) HU in conventional, low iodine, low tube voltage and dual-low-dose groups, and the iodine intake were (18.85±2.10), (15.75±1.78), (18.53±1.98), (15.62±1.92) g, the ED of the four groups were (1.74±0.14), (1.73± 0.11), (1.32 ± 0.08) and (1.35 ± 0.09) mSv, the difference were all statistically significant (P<0.01). Furthermore, the iodine intake and the effective radiation dose in dual-low-dose group were significantly lower than the conventational group. Conclusions Head-and-neck CTA with dual-low-dose scan can provide same quality images as using 100 kV and high dose iodine contrast agent, and which also significantly reduced the ED and iodine intake greatly. Thus, this scanning program has great clinical value.

Objective To summarize the experiences of diagnosis and treatment for blunt tracheobronchial injuries ( BTI) . Methods From January 1993 to December 2013, 15 patients were diagnosed with BTI and underwent surgical treatment at our hospital.Mean age of the 15 patients (11 men and 4 women) was 26.4 ±4.5 years.All the patients had a history of trauma, which included crushing injury in 8 cases, deceleration injury in 4, fall injury in 2, and traction-type injury in 1.BTI loca-tion: right main bronchus in eight cases, left main bronchus in four cases, upper trachea in one case, lower trachea with the right main bronchus in one case, and cervico-thoracic trachea with left main bronchus in one case .Thoracic computerized tomo-graphy was performed in 15 patients, which showed pneumothorax, subcutaneous emphysema, pneumomediastinum or falling lung sign of Kumpe.Preoperative fiberoptic bronchoscopy examination was performed in 15 cases, which included bronchial atresia in 9 cases, bronchial transection in 3 cases, laceration of trachea in 2 cases, and tracheal transection in 1 case.An e-lective surgical procedure after BTI was performed in 10 cases, and emergency surgery was performed in 5 cases.Tracheo-bron-chial laceration repair were performed in 2 cases, tracheal end-to-end reanastomosis in 1 case, and bronchial end-to-end re-anastomosis in 12 cases.Results There was no operative death, and one case was complicated with anastomotic stenosis.The average operation time was 205.7 ±41.3 minutes, and the average blood loss was 268.4 ±109 ml.The postoperative hospi-tal stay was 11.6 ±3.7 days on average.Follow-up was completed in 15 patients (mean, 29.3 months), and 15 patients were all symptomatic improvement .Conclusion The most common site of BTI was the right main bronchus near Carina parts .Al-though the diagnosis and treatment are often delayed , our findings indicate that chest CT and endoscopic findings could be used for the diagnosis of BTI.Surgical resection and reconstruction are effective methods to repair BTI successfully even many months after they occur.Often they do not require the resection of pulmonary parenchyma .

OBJECTIVETo investigate the facial aging analysis of 1200 Han adult people in Dalian with iris diameter, so as to provide reference for facial rejuvenation in Han people.

METHODS1200 facial digital photographs from the second-generation ID card of China were stratified randomly selected as the research sample, excluding facial deformity, tattooing eyebrow, tattooing lid margin, ptosis, lip grain and eyebrow deformity cases, as well as the cases whose join point of upper eyelid and lower eyelid not exposed at the nasal side. These photos were divided into six cohorts: female aged 18, 38, and 68 years old; and male aged 18, 38, and 68 years old, with 200 cases in each cohort. The individual iris diameter was divided into 20 equal parts in each photograph, with each part marked one unit as individual iris diameter ruler. Ten values were made from a horizontal plane between the medial canthus to ten points at one face ( the line between two medial canthus is used as the horizontal line, circumocular and facial soft tissue were measured with individual iris diameter ruler on the photographs), then the results were analyzed with Adobe Photoshop software.

RESULTSThere are statistically significant differences in eyebrow height (36.42 ± 4.22 unit in 18 years old male group, 40.22 ± 6.90 unit in 38 years old male group, 34.83 ± 9.39 unit in 68 years old male group; 37.59 ± 6.72 unit in 18 years old female group, 41.09 ± 5.15 unit in 38 years old female group, 36.84 ± 9.45 unit in 68 years old female group), palpebral fissure height, physiognomic external canthus height, palpebral fissure width, pupil height and other items (P < 0.05).

CONCLUSIONS(1) The brow position rises to the peak level at middle age (38 years old group), then drops down gradually with aging. (2) The physiognomic external canthus moves towards the nasal side and caudal side with aging. (3) Eyeball moves towards caudal side with aging. (4) The soft tissue around bilateral angle of mouth, nasal tip and submaxilla moves towards caudal side with aging. (5) The measurement of individual iris diameter ruler can apply to analyze the aging changes of facial soft tissue, and is more suitable for the case when facial photographs are taken at different distances.

Adolescent ; Adult ; Age Factors ; Aged ; Aging ; China ; ethnology ; Cohort Studies ; Eye ; anatomy & histology ; Eyebrows ; anatomy & histology ; Face ; anatomy & histology ; Female ; Humans ; Iris ; anatomy & histology ; Lip ; anatomy & histology ; Male ; Nose ; anatomy & histology ; Photography ; Rejuvenation ; Sex Factors