Objective:To summarize the clinical phenotypes and genetic characteristics of Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2) caused by PPP1CB variants. Methods:A case summary.Clinical data, laboratory findings, and imaging studies were collected from a patient with NSLH2 treated at Guangdong Women and Children Hospital in January 2024.Genomic DNA was extracted from the proband and his parents for whole-exome sequencing, with pathogenic variants verified by Sanger sequencing.Literature review was conducted to analyze clinical phenotypes, genetic features, and management approaches in NSLH2.Results:The patient manifested short stature, developmental delay, distinctive facial features, sparse eyebrows, slow hair growth, coarse hair texture, and hypotrichosis.Whole-exome sequencing identified a de novo heterozygous PPP1CB variant (c.146C>G, p.Pro49Arg).Literature review identified 26 reported cases (including this one), with cardinal features including developmental delay, impaired hair growth, abnormal hair texture, characteristic facies, congenital heart disease, short stature, and central nervous system abnormalities. Conclusions:NSLH2 is an autosomal dominant disorder caused by PPP1CB variants with characteristic manifestations.Genetic testing should be considered for children presenting with distinctive facies, developmental delay, impaired hair growth, and abnormal hair texture to establish a definitive diagnosis.

Objective:To summarize the clinical phenotypes and genetic characteristics of Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2) caused by PPP1CB variants. Methods:A case summary.Clinical data, laboratory findings, and imaging studies were collected from a patient with NSLH2 treated at Guangdong Women and Children Hospital in January 2024.Genomic DNA was extracted from the proband and his parents for whole-exome sequencing, with pathogenic variants verified by Sanger sequencing.Literature review was conducted to analyze clinical phenotypes, genetic features, and management approaches in NSLH2.Results:The patient manifested short stature, developmental delay, distinctive facial features, sparse eyebrows, slow hair growth, coarse hair texture, and hypotrichosis.Whole-exome sequencing identified a de novo heterozygous PPP1CB variant (c.146C>G, p.Pro49Arg).Literature review identified 26 reported cases (including this one), with cardinal features including developmental delay, impaired hair growth, abnormal hair texture, characteristic facies, congenital heart disease, short stature, and central nervous system abnormalities. Conclusions:NSLH2 is an autosomal dominant disorder caused by PPP1CB variants with characteristic manifestations.Genetic testing should be considered for children presenting with distinctive facies, developmental delay, impaired hair growth, and abnormal hair texture to establish a definitive diagnosis.

Hidden absenteeism refers to the behavior of employees who insist on going to work even when they are in poor health,but its work efficiency is low and affects the productivity.This paper reviews and sorts out the related researches on hidden absenteeism of nurses in China,expounds the definition of the con-cept of hidden absenteeism,evaluation tools,current situation and influencing factors of hidden absenteeism of nurses in China,and puts forward the suggestions on the countermeasures of hidden absenteeism,in order to provide reference for nursing managers in China on the management of hidden absenteeism.

Objective To Summarize perioperative nursing for 20 patients with the hyperreflexia of neurogenic detrusor by injection of botulinum toxin A.Methods Mental states of patients were assessed by Huaxi Emotional Distress Index questionnaire and psychological support was given to these patients,patients were assisted and instructed to record the urine diary correctly,cautions for the use of botulinum toxin A was interpreted,drinking water and activities were guided,and adverse reactions,follow-up results at 6,12 weeks were observed.Life quality by Incontinence Quality of Life Questionnaire was observed,the times of urinary incontinence,maximum pressure volume of bladder,maximum pressure of detrusor and the effect of urinary incontinence were compared.Results The absolute value of evasion and restrictive behavior,psychological effects,social fear disorders were (38.5 ± 19.6),(38.8 ±22.5),(28.1 ±20.3),respectively,on admission,and (41.2 ±27.1),(43.7 ± 26.5),(33.5 ± 28.8),respectively,at 6 weeks after nursing,and were (40.9 ± 27.7),(39.6 ± 24.3),(36.3 ± 28.7),respectively,at 12 weeks after nursing.The evasion and restrictive behavior,social fear disorderswere improved at 6,12 weeks after nursing as compared to nursing before.Conclusion Perioperative care for patients with the hyperreflexia of neurogenic detrusor by injection ofbotulinum toxin A can not only improve therapeuticeffect,improve social status,but also improve patients'self-management ability and quality of life.

Objective To Summarize perioperative nursing for 20 patients with the hyperreflexia of neurogenic detrusor by injection of botulinum toxin A.Methods Mental states of patients were assessed by Huaxi Emotional Distress Index questionnaire and psychological support was given to these patients,patients were assisted and instructed to record the urine diary correctly,cautions for the use of botulinum toxin A was interpreted,drinking water and activities were guided,and adverse reactions,follow-up results at 6,12 weeks were observed.Life quality by Incontinence Quality of Life Questionnaire was observed,the times of urinary incontinence,maximum pressure volume of bladder,maximum pressure of detrusor and the effect of urinary incontinence were compared.Results The absolute value of evasion and restrictive behavior,psychological effects,social fear disorders were (38.5 ± 19.6),(38.8 ±22.5),(28.1 ±20.3),respectively,on admission,and (41.2 ±27.1),(43.7 ± 26.5),(33.5 ± 28.8),respectively,at 6 weeks after nursing,and were (40.9 ± 27.7),(39.6 ± 24.3),(36.3 ± 28.7),respectively,at 12 weeks after nursing.The evasion and restrictive behavior,social fear disorderswere improved at 6,12 weeks after nursing as compared to nursing before.Conclusion Perioperative care for patients with the hyperreflexia of neurogenic detrusor by injection ofbotulinum toxin A can not only improve therapeuticeffect,improve social status,but also improve patients'self-management ability and quality of life.

Objective To study transforming growth factor ?_1 (TGF-?_1) expression in the lung of neonatal premature rats exposed to hyperoxia at different time. Methods 99 neonatal premature rats were assigned to hyperoxic group and air group randomly They were sacrificed at the postnatal 3 rd ,7 th and 14 th day,then their lungs were achieved for H.E staining and immunohistochemistry to measure the expression of TGF-?_1. The difference of TGF ?_1 expression were tested by rank-sum test. Results TGF-?_1 expression in hyperoxic group was always wider than that of air group at the corresponding period,and its expression in alveolar and bronchi epithelial cells as well as mesenchymal was stronger than that of control group(u respectively is: 49.0、14.0、63.0 at the 3 rd day;34.0、2.0、45.0 at 7 th day;and 32.0、13.5、33.0 at 14 th day (all P

Objective To determine the best processing technology of Prunus mume carbon.Methods L_9(3~4) Orthogonal design was used with three factors of processing temperature,stir-fry frequency,and time.The indicators of processing technology of P.mume carbon were the blood coagulation time,hemostasis time of mice,the contents of the water-solubility,the extract of alcohol-solubility,combined with product characters,yielding rate,and diameter size to optimize the processing technology of P.mume carbon.Results The optimized processing technology was as following:The processing temperature was 235℃,the stir-fry frequency was 80 times/min,and the processing time was 7.5 min.Conclusion The optimized processing technology is stable and operable,and meets the need to enhance the effect of blood coagulation,the carbonizing process of"the superficial burnt black,the internal burnt orange".

AIM: To investigate the effect of glycine on endotoxin and hypoxia-induced necrotizing exterocolitos (NEC) in rats. METHODS: In glycine+NEC group, twenty anesthetized and artificially ventilated rats received 1g/kg glycine (20%, iv). Five minutes later, the rats were treated with 2 mg/kg lipopolysaccharide (LPS). In control group (NS+NEC), twenty rats were treated with normal saline as a substitute for glycine. In all animals, FiO 2 was reduced after 90 min from 21% to 5% and ventilation continued until 180 min or death. At the end of the experiment, the samples of blood and intestine were obtained immediately. Serum TNF? was measured with ELISA, serum NO was determined by nitrate reductase. The histopathology of the necrotic lesions were categoried: grade Ⅰ, focal mild injury confined to villous tips; grade Ⅱ, partial loss of villi; grade Ⅲ, necrosis extending to submucosa; grade Ⅳ, transmural necrosis. RESULTS: The survival time [(159 25?22 78) min vs (138 75?19 05) min] was shorter in the NS+NEC group ( P