Objective:To identify pathogenic genes in 3 cases of piebaldism, and to explore the genotype-phenotype relationships in piebaldism.Methods:Clinical data were collected from 3 patients with piebaldism and their parents at the Department of Dermatology, Henan Provincial People′s Hospital from January 2019 to December 2021. Peripheral blood samples were obtained from them and 100 unrelated healthy controls, and DNA was extracted. Whole-exome sequencing technology was used to screen genetic variation sites, and then Sanger sequencing was performed for verification. The deleteriousness of genetic variants was evaluated by using pathogenicity analysis software tools.Results:Case 1: a 23-year-old male patient presented with white patches on the forehead, chest, and abdomen for 23 years, and his parents had no similar symptoms; case 2: a 1-year- and 5-month-old male infant presented with white patches on the forehead and abdomen for 1 year, and his parents had no similar symptoms; case 3: a 6-year-old male child presented with white patches on the forehead and limbs for 6 years, and his parents had no similar clinical manifestations. Genetic testing showed that a missense mutation c.2033T>C (p.L678P) in exon 14 of the KIT gene, a splice site mutation c.2485-1G>C in exon 18 of the KIT gene, and a heterozygous missense mutation c.2346C>G (p.F782L) in exon 16 of the KIT gene were identified in the case 1, 2, 3 respectively, but no above mutations were identified in the patients′ parents or 100 unrelated healthy controls. The 3 genetic variants were all novel pathogenic mutations, and all were deleterious mutations.Conclusions:Three novel pathogenic mutations in the KIT gene were identified in the 3 cases of piebaldism, namely c.2033T>C (p.L678P), c.2485-1G>C, and c.2346C>G (p.F782L). It was further verified that the severity of piebaldism was closely related to the type and location of KIT gene mutations.

Objective:To analyze the clinical characteristics and causes of death of patients with pneumoconiosis, and to provide evidence for the prevention and management of pneumoconiosis.Methods:From June 2022 to July 2023, 38 dead patients with pneumoconiosis confirmed by Shandong Academy of Occupational Health and Occupational Medicine were selected as the research objects. The clinical data of patients were collected through hospital information system (HIS) and laboratory information management system (LIS) to analyze the basic situation of patients with pneumoconiosis who died, the distribution of industry types, the course of disease, the nature of work, the type of reimbursement, complications/comorbidities, and the direct causes of death. Univariate analysis of variance was used to compare the course of pneumoconiosis death in patients with different age of exposure to dust.Results:Among the 38 patients with pneumoconiosis, there were 37 males and 1 female. The age of exposure to dust was 5-37 (19.29±8.17) years, the duration of disease was 5-41 (20.26±8.53) years, and the age of death was 27-86 (70.42±12.26) years old. There were 10 cases of stage Ⅰ pneumoconiosis, 18 cases of stage Ⅱ, 10 cases of stage Ⅲ pneumoconiosis and 32 cases (84.21%) of silicosis. There were 30 (78.95%) people aged ≥65 years and 8 (21.05%) people aged <65 years. The industry was mainly metal products (18 workers, 47.37%), and the distribution of work was mainly excavation workers (11 workers, 28.95%). The death course of pneumoconiosis patients with 10-<30 years of exposure to dust accounted for 76.32% (29/38). The average course of pneumoconiosis patients with 20-<30 years of exposure to dust was the longest[ (24.00±9.39) years], and there was no statistically significant difference in the average course of disease among different age of exposure to dust groups ( F=1.81, P=0.165). The working units of the deceased patients were private enterprises or factories, and the hospitalization expenses were borne by individuals for 21 people (55.26%). The working unit was a state-owned enterprise, and 17 people (44.74%) were reimbursed for hospitalization expenses and work-related injuries. The main comorbidities/complications of pneumoconiosis patients were respiratory infection in 18 cases (47.37%) and chronic pulmonary heart disease (47.37%). The top 3 direct causes of death were pneumoconiosis in 13 cases (34.21%), pulmonary infection in 10 cases (26.32%) and lung cancer in 7 cases (18.42%) . Conclusion:Most of 38 cases of pneumoconiosis patients death diseases such as multiple combination of respiratory system, cardiovascular system, respiratory system disease is a major cause of death in pneumoconiosis patients.

OBJECTIVE To compare the anti-oxidative effects of "three decoctions for COVID-19" (Qingfei Paidu decoction, Huashi Baidu decoction, Xuanfei Baidu decoction) in parallel experimental models. METHODS In the cell-free system, the total antioxidant capacity was investigated by FRAP method. The scavenging effects of DPPH radicals and superoxide anions were evaluated by DPPH and NBT reduction method, respectively. The scavenging effect of hydroxyl radicals was determined by a fluorescence method based on the end-product MDA. The anti-lipid peroxidation activity was investigated using the FeSO4-induced rat liver homogenate MDA method. Based on these five antioxidant indicators, the antioxidant capabilities of the extracts of three decoctions were parallelly compared in the cell-free system. Furthermore, in lipopolysaccharide-activated RAW264.7 cells, the productions of intracellular and mitochondrial reactive oxygen species(ROS) were detected using the L-012 probe and the MitoSOX mitochondrial superoxide red fluorescence probe, respectively; and intracellular NADPH oxidase activity was measured using the lucigenin probe. These three indicators were used to parallelly compare the antioxidant capabilities of the extracts of three decoctions. RESULTS In the cell-free system, three decoctions for COVID-19 could concentration-dependently scavenge DPPH radicals, superoxide anions and hydroxyl radicals, and potently inhibit the lipid peroxidation. At the equal extract concentration, their scavenging effects on DPPH radicals and superoxide anions and the total antioxidant capacity were comparable; while Huashi Baidu decoction exhibited the strongest ability to scavenge hydroxyl radicals and inhibit lipid peroxidation. In the cell system, three decoctions could reduce lipopolysaccharide-elevated intracellular ROS level by weakening NADPH oxidase activity; meanwhile, they could decrease mitochondrial ROS productions, among which Qingfei Paidu decoction possessed the most comprehensive effection. CONCLUSION Collectively, three decoctions for COVID-19 exert diverse antioxidant effects in both cell-free and cell systems, and each of them possesses the distinct advantages. Given that oxidative stress is pivotal during the pathological process of COVID-19, the results may suggest that the antioxidant ability of three decoctions is one of the pharmacodynamic basis for their clinical use.

Objective:To analyze the clinical characteristics and causes of death of patients with pneumoconiosis, and to provide evidence for the prevention and management of pneumoconiosis.Methods:From June 2022 to July 2023, 38 dead patients with pneumoconiosis confirmed by Shandong Academy of Occupational Health and Occupational Medicine were selected as the research objects. The clinical data of patients were collected through hospital information system (HIS) and laboratory information management system (LIS) to analyze the basic situation of patients with pneumoconiosis who died, the distribution of industry types, the course of disease, the nature of work, the type of reimbursement, complications/comorbidities, and the direct causes of death. Univariate analysis of variance was used to compare the course of pneumoconiosis death in patients with different age of exposure to dust.Results:Among the 38 patients with pneumoconiosis, there were 37 males and 1 female. The age of exposure to dust was 5-37 (19.29±8.17) years, the duration of disease was 5-41 (20.26±8.53) years, and the age of death was 27-86 (70.42±12.26) years old. There were 10 cases of stage Ⅰ pneumoconiosis, 18 cases of stage Ⅱ, 10 cases of stage Ⅲ pneumoconiosis and 32 cases (84.21%) of silicosis. There were 30 (78.95%) people aged ≥65 years and 8 (21.05%) people aged <65 years. The industry was mainly metal products (18 workers, 47.37%), and the distribution of work was mainly excavation workers (11 workers, 28.95%). The death course of pneumoconiosis patients with 10-<30 years of exposure to dust accounted for 76.32% (29/38). The average course of pneumoconiosis patients with 20-<30 years of exposure to dust was the longest[ (24.00±9.39) years], and there was no statistically significant difference in the average course of disease among different age of exposure to dust groups ( F=1.81, P=0.165). The working units of the deceased patients were private enterprises or factories, and the hospitalization expenses were borne by individuals for 21 people (55.26%). The working unit was a state-owned enterprise, and 17 people (44.74%) were reimbursed for hospitalization expenses and work-related injuries. The main comorbidities/complications of pneumoconiosis patients were respiratory infection in 18 cases (47.37%) and chronic pulmonary heart disease (47.37%). The top 3 direct causes of death were pneumoconiosis in 13 cases (34.21%), pulmonary infection in 10 cases (26.32%) and lung cancer in 7 cases (18.42%) . Conclusion:Most of 38 cases of pneumoconiosis patients death diseases such as multiple combination of respiratory system, cardiovascular system, respiratory system disease is a major cause of death in pneumoconiosis patients.

Objective To explore the effect of CT slice thickness on the reproducibility of radiomic features in urinary stones.Methods A retrospective analysis was performed on 30 cases of stones diagnosed by urinary CT.Thin-slice(1 mm)images were reconstructed into two groups of images with thicknesses of 2 mm and 5 mm.Two radiologists conducted manual segmentation independently and then extracted features.The reproducibility of the radiomic features was calculated using the concordance correlation coefficient(CCC).Results Under different slice thickness conditions by the same radiologist,the average CCC of all groups was less than 0.85(P＜0.05).For radiologist A,the proportion of stone features with CCC＜0.85 were 50.13％,79.91％,and 82.38％in the 1 mm vs 2 mm group,2 mm vs 5 mm group,and 1 mm vs 5 mm group,respectively.Corresponding values for radiologist B were 44.55％,79.47％and 82.32％,respectively.Among the seven categories of radiomic features,the morphological features with CCC＜0.85 was 100％in the 1 mm vs 5 mm group.Conclusion CT slice thickness significantly affected the reproducibility of radiomic features in urinary stones,with the greatest effect observed in morphological features.Thin-slice imaging demonstrated more stable reproducibility of stone characteristics.

A 1-year and 9-month-old male proband presented with clustered rice grain-sized flat smooth red papules on the face, trunk and limbs for 1.5 years, without fever, joint swelling, or pain. The proband′s sister aged 7 years ever experienced swelling and pain in the finger joints of both hands at the age of 2 years, and had intermittent fever and papules all over the body at the same time, and the papules gradually regressed with the subsidence of fever. The proband′s mother aged 27 years suffered from swelling and pain in the finger joints of both hands when she was young, gradually leading to finger deformities, and experienced intermittent knee swelling and pain at the age of 12 years without obvious skin lesions on the body. No abnormality was found in ophthalmological and systemic physical examinations of the 3 patients. Whole-exome sequencing showed that the proband, his sister and mother all had a heterozygous missense mutation c.1001G>A (p.R334Q) in exon 4 of the NOD2 gene. A diagnosis of Blau syndrome was made. The proband was treated with topical moisturizing cream all over the body; during the 52-week follow-up, no joint swelling and pain or eye symptoms were found in the proband, while erythema and depressed scars were observed on the face, trunk and limbs. The proband′s sister and mother were treated with subcutaneous injections of adalimumab at initial doses of 40 mg and 80 mg respectively, followed 1 week later by injections at 20 mg and 40 mg respectively, and then treated with injections at 20 mg and 40 mg respectively every 2 weeks; after 12-week treatment, the joint swelling and pain were markedly relieved in the proband′s sister and mother, and most skin lesions subsided in the proband′s sister; at week 52 during the follow-up, there was no joint swelling, pain or skin lesions in the proband′s sister, and there was no swelling or pain in the knee joints of the proband′s mother, while no improvement was observed in her finger deformities. During the treatment, no eye symptoms or adverse reactions were observed neither in the proband′s sister nor in his mother.

Objective:To explore the current situation and influencing factors of personal mastery in patients with early postoperative enterostomy.Methods:From October 2020 to April 2021, convenience sampling was used to select 186 patients who underwent enterostomy at the Affiliated Hospital of Qingdao University as the study subjects. The survey was conducted using the General Information Questionnaire, the Perceived Social Support Scale, the Self-Esteem Scale, and the Personal Mastery Scale.Results:Among 186 patients with early postoperative enterostomy, the scores of personal mastery, social support, and self-esteem were (22.33±2.64) , (73.28±4.74) and (23.56±2.95) , respectively. The results of multiple linear regression analysis showed that age, education level, social support, and self-esteem were the main influencing factors for personal mastery in patients with early postoperative enterostomy ( P<0.05) . Conclusions:The level of personal mastery in patients with early postoperative enterostomy needs to be improved. Medical and nursing staff should pay attention to patients who are old, have low levels of education, have weak social support and have low levels of self-esteem. Nursing staff can enhance patients' personal mastery by strengthening health education and other measures.

OBJECTIVE: To perform gene mutation analysis in a Chinese pedigree with dystrophic epidermolysis bullosa pruriginosa (DEB-Pr), and explore phetotype, genotype, and genotypes-phenotypes relationship of DEB-Pr. METHODS: Potential variants of the COL7A1 gene were detected by skin targeted sequencing panel and verified by Sanger sequencing. The pathogenicity of the variation was analyzed. RESULTS: Compound heterozygous variants, c.4128delT and c.8234G>A, were detected in the COL7A1 gene of the two patients. The c.4128delT(p.Pro1376fs) variant was derived from their mother and unreported previously. According to the American College of Medical Genetics and Genomics Standards and Guidelines, it was suggested to be a pathogenic mutation. The c.8234G>A(p.Arg2745Gln) variant was derived from their father, and possibly is a pathogenic variation. CONCLUSION In this study, the compound heterozygous variants of c.4128delT(p.Pro1376fs) and c.8234G>A(p.Arg2745Gln) of the COL7A1 gene probably underlies the disease in this patient and his sister. And our study expands the database on mutations of DEB-Pr.
Collagen Type VII/genetics* ; Epidermolysis Bullosa Dystrophica/genetics* ; Female ; Humans ; Male ; Mutation ; Pedigree ; Phenotype

Objective:To investigate two Chinese pedigrees with dyschromatosis symmetrica hereditaria (DSH) , and to analyze gene mutations in the pedigrees.Methods:Clinical data were collected from two probands with DSH and other family members in their pedigrees. Peripheral blood samples were obtained from the two probands, their parents and 100 unrelated healthy controls. Gene mutations were detected by using a skin-targeted sequencing panel, and then verified by Sanger sequencing.Results:Case 1, an 18-year-old male patient, presented with millet-sized hyperpigmented and hypopigmented macules scattered on the dorsum of both hands and feet at the age of 5 years, and his mother had similar manifestations. A novel heterozygous frameshift mutation c.1970dupT (p.F657fs) was identified in exon 5 of the ADAR gene in case 1 and his mother, but not found in his father. Case 2, an 8-year-old male patient, presented with mottled rice- to soybean-sized brown hyperpigmented macules and hypopigmented macules on the face and neck, lower back, buttocks, lower limbs, as well as hands and feet, and his father presented with similar manifestations. A known heterozygous frameshift mutation c.2433_2434delAG (p.T811fs) was identified in exon 7 of the ADAR gene in case 2 and his father, but not found in his mother. Neither of the two mutations was identified in the 100 unrelated healthy controls.Conclusion:In this study, a novel mutation c.1970dupT (p.F657fs) in the ADAR gene was identified in a patient with DSH.

Objective:To identify causative genes for autosomal recessive woolly hair (ARWH) in a family.Methods:Clinical data were collected from two patients and other family members in a Chinese pedigree of Han nationality with ARWH. Peripheral blood samples were obtained from the two patients, their unaffected parents and 100 unrelated healthy individuals, and DNA was extracted from the blood samples. A next-generation skin-targeted sequencing panel was used to detect gene mutations in the patients, and Sanger sequencing was performed to verify the sequencing results. The function of protein encoded by the mutant gene was predicted.Results:Two missense mutations c.530T>G (p.Leu177Arg) and c.736T>A (p.Cys246Ser) were both identified in the LIPH gene of the two patients, which were inherited from their father and mother respectively. Neither of the two mutations was identified in the 100 unrelated healthy controls. Interspecies sequence alignment showed that leucine at amino acid position 177 and cysteine at amino acid position 246 of the protein encoded by the LIPH gene were highly evolutionarily conserved. As SIFT and Polyphen-2 softwares showed, the mutations c.530T>G (p.Leu177Arg) and c.736T>A (p.Cys246Ser) were both predicted to be detrimental variations.Conclusion:Two missense mutations c.530T>G (p.Leu177Arg) and c.736T>A (p.Cys246Ser) in the LIPH gene may contribute to the clinical phenotype of the two patients with ARWH in this family.