Objective:To explore the genetic basis for a Chinese pedigree and a sporadic case with Neurofibromatosis type 1 (NF1).Methods:Clinical data of the pedigree and the sporadic case were collected. Genomic DNA was extracted from peripheral venous blood samples and subjected to whole exome sequencing. Candidate variants were validated by Sanger sequencing and bioinformatic analysis.Results:All patients from the pedigree were found to harbor a c. 3251delC variant in exon 25 of the NF1 gene, whilst a c. 4312_4314delGAA variant was found in exon 32 of the NF1 gene in the sporadic case. Conclusion:Variants of the NF1 gene may account for the occurrence of NF1 in this pedigree and sporadic case.

The human gastrointestinal tract is the largest reservoir of bacteria in the body,inhabiting a very complex and active microbial community.Under normal circumstances,the interaction between the intestinal flora and the host maintains a dynamic balance.Spleen deficiency syndrome is a common classic syndrome type in TCM clinical practice.A large number of studies have shown that spleen deficiency syndrome is closely related to intestinal microorganisms,and the balance of intestinal flora is the basis for the normal functioning of the spleen's main transportation and transformation functions.Intestinal flora imbalance can lead to a series of manifestations of spleen deficiency.In addition,intestinal flora is an important medium for the metabolism of polysaccharide components and the effectiveness of traditional Chinese medicine for invigorating the spleen,and traditional Chinese medicine for invigorating the spleen can also play a therapeutic role by regulating the structure and quantity of intestinal flora.This article summarizes the relationship between intestinal flora and spleen deficiency syndrome in physiology,pathology,and the efficacy of traditional Chinese medicine for invigorating the spleen.Based on intestinal flora,the study of spleen deficiency syndrome aims to provide some thoughts and suggestions for revealing the connotation of spleen deficiency syndrome in traditional Chinese medicine.

Objective:To explore the effect of motivational enhancement group intervention conducted by nur-ses on the motivation of self-improvement,relapse tendency and self-esteem in the recovering male amphetamine addicts.Methods:Ninety-eight recovering male amphetamine addicts in the Compulsory Detoxification Center were randomly divided into control group(n=54)and motivational enhancement group(n=44).The addicts in the con-trol group received routine education while those in the motivational enhancement group received routine education combined with a 12-week motivational enhancement group intervention conducted by nurses.The Stages of Change Readiness and Treatment Eagerness Scale(SOCRATES),Relapse Tendency Questionnaire,and Rosenberg Self-es-teem Scale(RSES-T)were applied to measure the effect,before and after the intervention.Results:In both two groups,the scores of RSEST,questionnaire of relapse tendency,and self-confidence of detoxification were lower af-ter 12-week intervention than at the baseline(Ps＜0.05).After 12-week intervention,all the above scores were lower in the motivational enhancement group than in the control group(Ps＜0.05).Conclusion:Compared with routine education,the motivational enhancement group intervention conducted by nurses may be more effective to improve their self-confidence in drug rehabilitation and prevention of relapse in recovering male amphetamine ad-dicts,however,the improvement on self-esteem is limited.

Objective To investigate the distribution of TCM syndromes and syndrome elements of irritable bowel syndrome(IBS);To provide reference for clinical TCM syndrome differentiation and treatment.Methods The patients with IBS who filled in the questionnaire were collected from 18 tertiary Chinese medicine hospitals in China from November 2019 to December 2022,including Xiyuan Hospital,China Academy of Chinese Medical Sciences,Guangdong Provincial Hospital of Traditional Chinese Medicine,the First Affiliated Hospital of Henan University of Traditional Chinese Medicine.The contents of questionnaire included the patients'general condition,medical history(onset time,condition changes),Rome Ⅳ symptom diagnostic scale,somatic symptom cluster scale,quality of life scale,hospital anxiety and depression scale,TCM syndromes,etc.The methods of factor analysis and systematic clustering analysis were used,the factors of disease and syndrome were extracted,and the classification of TCM syndrome types was summarized.Results Totally 157 patients were included,87 were male and 70 were female.The age was from 18 to 74 years old.The longest course of disease was 30 years and the shortest was 3 months,with an average of(48.31±5.61)months.Anxiety score:was 3.66±0.30,depression score was 3.39±0.28.The most common TCM symptom was emotional distress(83.4%),followed by diarrhea(80.9%)and abdominal pain(72.6%).The results of factor analysis showed that rotation finally converged after 16 iterations,and 8 common factors and 33 variables were obtained,with a cumulative contribution rate of 60.016%.The sites of IBS were mainly distributed in liver,spleen,large intestine and stomach.The main syndrome factors were qi stagnation,phlegm,dampness,heat and yang deficiency.The results of clustering analysis of 8 common factors showed that the main TCM syndrome types were liver depression and qi stagnation syndrome,damp-heat internal accumulation syndrome,liver depression and spleen deficiency syndrome,and liver-stomach digression syndrome.The main TCM syndrome of diarrhea-predominant IBS was liver stagnation and spleen deficiency syndrome,and the main TCM syndrome of mixed type and constipation type was damp-heat accumulation syndrome.There were statistically significant differences in the distribution of TCM syndrome types in patients with different types(P<0.05).Conclusion The location of IBS is mainly in liver,spleen and large intestine,especially in liver.The TCM syndrome types are mainly liver depression and qi stagnation syndrome,damp-heat internal accumulation syndrome,liver depression and spleen deficiency syndrome.

Objective:To determine the clinical efficacy and safety of a fractional CO 2 laser and a 1 064 nm, Q-switched Nd∶YAG laser therapy in the treatment of xanthelasma palpebrarum. Methods:From October 2020 to October 2021, 30 patients (5 males and 25 females) with bilateralxanthelasma palpebrarum of the eyelid were enrolled in the Department of Dermatology, the First Affiliated Hospital of Xiamen University. The age ranged from 38 to 67 (51±7) years. One side was randomly treated with fractional CO 2 laser as the fractional group, and the other side was treated with Q-switch 1 064 nm Nd∶YAG laser as the Q-switch group. The treatment was given every 28 days for 4 times. Before treatment and 1 month after the last treatment, the general pictures were taken to compare the clinical effect. Skin ultrasound was used to measure the difference of tumor thickness before and after treatment. The incidence of adverse reactions, such as local scar, hyperpigmentation or hypopigmentation after inflammation, were recorded. Results:Under general photos, there was statistically significant difference in efficacy scores between the two groups before and after treatment ( Z=-3.082, P<0.05). By comparison of tumor thickness under skin ultrasound, the difference between the two groups before and after treatment was statistically significant ( t=21.60, P<0.05; t=17.29, P<0.05); there was no statistically significant difference between the two groups before treatment ( t=0.46, P=0.650), but there was statistically significant difference between the two groups after treatment ( t=8.41, P<0.001). No serious adverse reactions occurred in both groups. Conclusions:Fractional CO 2 laser or Q-switch 1 064 nm Nd∶YAG laser can safely and effectively improve xanthelasma palpebrarum, in which the effect of fractional CO 2 laser is much better.

Referring to ZHANG Xichun's experience in treating dysentery from cold-fire accumulation， the treatment of ulcerative colitis （UC） in this paper can be divided into three stages including cold-fire accumulation stage， excessive heat and putrid intestine stage， and healthy qi deficiency and pathogen lingering stage. For people with slippery and excess pulse in the cold-fire accumulation stage， Xiaochengqi Decoction （小承气汤） added with Baishao （Radix Paeoniae Alba） and Gancao （Radix et Rhizoma Glycyrrhizae） can be used for purgation， while those with deficient pulse， Huazhi Decoction （化滞汤） or Xieli Decoction （燮理汤） can be used. In the excessive heat and putrid intestine stage， Tongbian Baitouweng Decoction （通变白头翁汤） and Jiedu Shenghua Elixir （解毒生化丹） are suggested. In the healthy qi deficiency and pathogen lingering stage， it is advised to use Jiedu Shenghua Elixir added with Shanyao （Rhizoma Dioscoreae）， and Sanbao Porridge （三宝粥）. Additionally， the medication rules， dosage and administration characteristics of Huanglian （Rhizoma Coptidis）-Rougui （Cortex Cinnamomi）， Yadanzi （Fructus Bruceae）， Diyu （Radix Sanguisorbae）， Shanyao and Liuhuang （Sulphur） by ZHANG Xichun have been summarized with the help of modern pharmacological research， so as to provide new ideas for the treatment of UC by TCM.