OBJECTIVE:To prepare bovine serum albumin(BSA)liposomes coated with N-trimethyl chitosan(TMC) and study the factors influencing the quality of the preparation.METHODS:BSA liposomes were prepared by the method of reverse-phase evaporation.TMC polymers for coating liposomes were synthesized by quaternary amination reaction between chitosan and methyl iodide.The TMC-coated BSA liposomes were prepared.The entrapment efficiency of BSA liposomes was determined by high speed centrifugation-Coomassie brilliant blue G-250 dye method.The effects of the composition ratio of soybean lecithin(PC):cholesterol(CH):phospbatidylserine(PS),the mass ratio of TMC to total lipid and the ionic strength on particle size and entrapment efficiency were investigated.RESULTS:All the factors investigated had influences on particle size and entrapment efficiency.The optimal formulation was as follows:PC:CH:PS was 8:9:1,TMC to lipid phase ratio was 0.25:1 and ionic strength was less than 20 mmol?L~(-1).The entrapment efficiency prepared in the above conditions was (46.82?2.07)%.CONCLUSION:The TMC-coated BSA liposomes were obtained successfully and the preparation had uniform particle size and good stability.

To report the clinical, imaging, and pathological feature of a rare case of central precocious puberty with primary pigmented nodular adrenocortical disease(PPNAD), and to conduct a retrospective analysis of PPNAD with relevant literatures. The pubic hair was found in the child for more than one year. Physical examination showed Cushing′s syndrome. ACTH in blood decreased, cortisol rhythm was disordered, 24-hour urine free cortisol increased and the paradoxical increase of urine free cortisol after high dose dexamethasone suppression test. Adrenal enhancement computed tomography(CT)showed multiple small nodular shadows in bilateral adrenal glands. Gonadotropin releasing hormone(GnRH)stimulation test supported central precocious puberty and GnRH analogue was used to control the sexual development. PPNAD was supported by pathology result. The symptoms of Cushing′s syndrome were relieved partially after left adrenalectomy.

Objective:To develop and evaluate a medical experience assessment scale for debridement and dressing change in chronic wound patients in China, and to provide a reference for improving hospital service quality.Methods:Based on the framework of hospital consumer assessment of healthcare providers and systems survey (HCAHPS) in the United States, a preliminary draft of the scale was formed through a literature review and qualitative interviews with 12 chronic wound patients (7 males and 5 females aged 58.1±12.3 years). Five experts were invited for content validity testing, and 191 chronic wound patients (111 males and 80 females aged 53.5±19.1 years) were selected to evaluate the internal consistency reliability, half reliability, retest reliability, and structural validity of the scale.Results:The Chronic Wound Patient Debridement and Dressing Experience Scale covered 5 dimensions with 30 sub-items and 2 comprehensive evaluation items, including demand response, good and friendly communication, professional trust, optimization of the medical treatment process, and encouragement of patient participation. The scale Cronbach′s α coefficient was 0.967 and ranged from 0.890 to 0.962 for each dimension. The overall retest reliability of the scale was 0.940 and ranged from 0.895 to 0.940 for each dimension. The overall half reliability of the scale was 0.923 and ranged from 0.834 to 0.935 for each dimension. 5 factors were extracted, with a cumulative variance contribution rate of 82.061%.Conclusions:Based on the HCAHPS framework in the United States, the Chronic Wound Debridement and Dressing Experience Scale developed has high reliability and validity, and can be used to evaluate the dressing change experience of patients with chronic wounds. It has clinical practice significance for dressing change in chronic wounds.

Alzheimer's disease(AD) is a common neurodegenerative disease with increasing incidence rate. Up to now,there is no ideal treatment for AD. It has become a public health problem worldwide. Traditional Chinese medicine (TCM) believes that kidney deficiency is the key symptomatic element of deterioration and temporal progression symptoms,accompanied by the AD process. The treatment of tonifying kidneys,supplementing essence and replenishing marrow is the fundamental method for AD in TCM. Clinical studies have shown that kidney-tonifying formula can significantly improve the cognitive function and daily ability of patients with mild and moderate AD and have no obvious adverse reactions. Its mechanism of action may be related to the protection of nerves,reduction of β-amyloid (Aβ) level in the brain,inhibition of inflammatory factors activation and anti-oxidative stress. Besides reviewing the clinical and pharmacological research progress of kidney-tonifying formula for AD,this article also discusses the advantages and shortcomings of kidney-tonifying formula in the prevention and treatment of AD based on TCM theory and modern medical research. The aim of this study is to provide references of kidney nourishing therapy in TCM for the prevention and treatment of neurodegenerative diseases.

OBJECTIVE: To explore the genetic basis for a child with Rothmund-Thomson syndrome (RTS). METHODS: The child has featured poikeloderma, short stature, cataract, sparse hair and skeletal malformation. Peripheral blood samples of the child and her family members were collected and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing. RESULTS: The child was found to harbor compound heterozygous variants of the RECQL4 gene, namely c.1048_1049delAG and c.2886-1G>A, among which c.2886-1G>A was unreported previously. According to the ACMG guidelines, the c.1048_1049delAG was predicted to be pathogenic (PVS1+PM3_Strong+PM2), while the c.2886-1G>A was predicted to be likely pathogenic (PVS1+PM2). CONCLUSION The compound heterozygous variants of the RECQL4 gene probably underlay the pathogenesis of RTS in this patient. Above finding has enriched the mutational spectrum of the RECQL4 gene.
Child ; Family ; Female ; Humans ; Mutation ; RecQ Helicases/genetics* ; Rothmund-Thomson Syndrome/genetics* ; Whole Exome Sequencing

Congenital lipoid adrenal hyperplasia (CLAH) is a rare autosomal recessive disorder, which is characterized by adrenal insufficiency and 46, XY sex reversal. Two cases of CLAH with 46, XY karyotype exhibited male external genitalia were reported to explore the clinical and genetic features. A retrospective analysis of CLAH with relevant literatures was performed.

Objective:To analyze the patients′ clinical and genetic characteristics with pseudohypoparathyroidism (PHP) and investigate the correlation between clinical phenotypes and genotypes.Methods:Twenty PHP patients were ascertained at Children′s Hospital Zhejiang University School of Medicine from January 2011 to July 2020. Clinical manifestation, laboratory examination and gene test results were retrospectively analyzed.Results:In these twenty patients, eighteen cases showed resistance to parathyroid hormone (PTH) and thirteen cases had Albright′s hereditary osteodystrophy (AHO) phenotype. Gene abnormalities were found in all the twenty PHP patients, which included seven patients with GNAS gene variations (six frameshifts and one missense) and thirteen patients with GNAS gene methylation defects. Moreover, twelve children with both PTH resistance and AHO phenotype were clinically diagnosed as PHP-Ⅰa, meanwhile, seven carried GNAS variations and five had methylation abnormalities with a correct diagnosis of PHP-Ⅰb.Conclusions:Patients with AHO phenotype and PTH resistance may have a high genetic diagnosis rate. Because PHP-Ⅰb clinical phenotype may be similar to PHP-Ⅰa, early genetic detection is required for the differential diagnosis. In addition, children without PTH resistance should also be followed up regularly, which may help the early diagnosis.

OBJECTIVE： To investigate the changes of extraction rates of forsythiaside A and forsythin in Forsythia suspensa compatible with other medicinal material of Menshi huwei formula before and after decoction. METHODS： HPLC method was used to determine the extraction amounts and to calculate the extraction rates of forsythiaside A and forsythin in F. suspensa （5 g×7 doses）， F. suspensa （5 g×7 doses） compatible with Pinelliae rhizoma praeparatum cum zingibere et alumine （PRZA）， Menshi huwei formula [including 6 ingredients as F. suspense （5 g×7 doses）， PRZA] after decocted with water. The determination was performed on Diamonsil C18 column with mobile phase consisted of acetonitrile-0.2％ formic acid solution （gradient elution）. The detection wavelength was set at 278 nm， and the column temperature was 30 ℃. The flow rate was 1.0 mL/min. RESULTS： The linear range of forsythiaside A and forsythin were 0.61-6.1， 0.246-2.46 μg （r＝0.999 7， 0.999 9）， respectively； RSDs of precision， stability （within 20 h） and reproducibility tests were all lower than 2％ （n＝6）. Average recovery rates were 96.10％-99.37％ （RSD≤2.36％，n＝6） respectively. In F. suspensa， extraction rates of forsythiaside A and forsythin were 96.90％ and 66.67％. In F. suspensa compatible with PRZA， extraction rates of them were 101.61％ and 54.55％. In Menshi huwei formula， extraction rates of them were 98.39％ and 84.85％. CONCLUSIONS： After F. suspensa is compatible with PRZA， the extraction rates of forsythiaside A is increased while forsythin is decreased. After compatible with other medicinal material in Menshi huwei formula， extraction rates of both are increased slightly.

The cyclic GMP-AMP synthase (cGAS)-stimulator of interferon genes (STING) signaling exert essential regulatory function in microbial-and onco-immunology through the induction of cytokines, primarily type I interferons. Recently, the aberrant and deranged signaling of the cGAS-STING axis is closely implicated in multiple sterile inflammatory diseases, including heart failure, myocardial infarction, cardiac hypertrophy, nonalcoholic fatty liver diseases, aortic aneurysm and dissection, obesity, etc. This is because of the massive loads of damage-associated molecular patterns (mitochondrial DNA, DNA in extracellular vesicles) liberated from recurrent injury to metabolic cellular organelles and tissues, which are sensed by the pathway. Also, the cGAS-STING pathway crosstalk with essential intracellular homeostasis processes like apoptosis, autophagy, and regulate cellular metabolism. Targeting derailed STING signaling has become necessary for chronic inflammatory diseases. Meanwhile, excessive type I interferons signaling impact on cardiovascular and metabolic health remain entirely elusive. In this review, we summarize the intimate connection between the cGAS-STING pathway and cardiovascular and metabolic disorders. We also discuss some potential small molecule inhibitors for the pathway. This review provides insight to stimulate interest in and support future research into understanding this signaling axis in cardiovascular and metabolic tissues and diseases.