Objective To discuss the clinical features and therapeutic effects of adrenogenital syndrome in children. Methods Clinical and follow up data were summarized for 42 children with adrenogenital syndrome, including 30 cases of congenital adrenal hyperplasia (CAH) and 12 cases of adrenal cortex tumor. Results Endocrine function examination in 15 cases of CAH showed that 24h urine 17 KS was elevated in 10 cases and normal in 5.There was obvious clitorism in all 30 CAH children and urogenital sinus malformation in 28.Of the 12 cases of adrenal cortex tumor 7 had sexual abnormality and hypercortisolism simultaneously.Clitoris shortening or clitoridectomy was performed in CAH cases plus vaginal vestibule plasty simultaneously.Of the 12 cases of adrenal cortex tumor 10 underwent complete tumor resection;1 partial tumor resection and the remaining 1 declined treatment.During the follow up 8 case of cortex tumor,4 cases of adenoma survived tumor free with an average survival time of 7.5 years;2 cases of cortex carcinoma survived tumor free for 3 and 4 years;while the other 2 cases died soon after discharge. Conclusions The diagnosis can be established based on clitorism,labium confluence or male sexual precocity,increase in urine 24h 17 KS and blood testrone.Cortex hormone should be taken early,properly,life long in CAH patients,and appropriate perineoplasty should be performed.Early detection and resection of tumor is the key point for treating adrenogenital syndrome caused by cortex tumor.

We originally created the theory of "four separated" management of goods, by which we achieved the effective administration in the aspects of check and approval, purchase, safekeeping and usage of materials in our hospital. Combining with practical work of our hospital, this article analyzed and summarized the theory, application, effect and significance of the "four separated" management of the goods.

Objective To investigate the association of hepatitis B virus(HBV) S gene quasispecies with the outcome of HBV infection.Methods Serum samples were collected from three chronic HBV carriers, three chronic hepatitis B and three chronic severe hepatitis B patients.All subjects were male and with HBV genotype C.HBV S gene was amplified, and 20 clones of HBV fragment were randomly selected and sequenced from each sample.SPSS 15.0 software was adopted for analysis.Results Quasispecies complexity of HBV S gene in chronic HBV carriers and chronic hepatitis B tended lower than that of the severe chronic hepatitis B, but the difference was not of statistical significance (P＞0.05).In T cell epitope 45, 47, 85 amino acid sites of the HBV S gene, the constitution of quasispecies in the chronic hepatitis B was more complex than that of the HBV carriers (P=0.01), but compared with the severe chronic hepatitis, the difference was not significant (P=0.06).The computer model showed that both the dominant clones and the non dominant clones could effectively bind to the receptors of cytotoxic T lymphocytes.Conclusion Quasispecies in some T cell epitopes of HBV S gene may be related with the clinical outcome of hepatitis B.

ObjectiveTo investigate the relationships between insulin-like growth factor-Ⅰ (IGF-Ⅰ) and osteoprotegerin (OPG), RANKL, and bone mineral density (BMD) in healthy women. MethodsBMD of lumbar spine and femoral neck were measured in 504 healthy women by dual energy X-ray absorptiometry and their serum levels of IGF-Ⅰ, OPG, RANKL were also determined. ResultsAge was negatively correlated with serum level of IGF-Ⅰ in healthy women (r=-0.702, P

Objective To search the single nucleotide polymorphism (SNP) in exons of osteoprotegerin gene, and to analyse the relationship between SNP and bone mineral densities (BMD) in postmenopausal women. Methods Using PCR and direct sequencing to identify SNP and genotypes in 205 postmenopausal women. BMD at lumbar spine (L 2 4 ) and femoral neck (FN) were measured by dual energy X ray absorptiometry. Serum osteocalcin (BGP), osteoprotegerin (OPG), osteoprotegerin ligand (RANKL) and urinary N telopeptides of type Ⅰ collagen (NTx) were also measured. Results One SNP, G1181C, was found in exon 1 of OPG gene. The frequencies of G1181C genotypes in 205 postmenopausal women were 0.566, 0.346, and 0.088 for the genotypes GG, GC and CC respectively. BMD at lumbar spine (L 2 4 ) of CC genotype was significantly higher than GC and GG genotypes (P

OBJECTIVETo report the clinical characteristics, biochemical profiles, diagnosis and treatment of one Chinese pedigree with glucocorticoid-remediable aldosteronism (GRA) and to study its molecular mechanism.

METHODSPlasma and urinary aldosterone, cortisol and plasma renin activities were dynamically tested and diagnostic therapy with dexamethasone was undergone in 3 affected subjects. Long-distance PCR as well as DNA sequencing were applied to detect the fusion gene in this pedigree.

RESULTSIn this GRA pedigree, there were 4 affected subjects who had hypertension, hypokalemia and low basic and provoked renin activity. Three patients were given dexamethasone treatment, and had a significant decrease in plasma aldosterone concentrations (PACs) (from 192 +/- 9 ng/L to 87 +/- 7ng/L, P < 0.05) after 5 days. Among them, one patient (II -3) responded quite satisfactorily to the therapy, with serum K(+) rising from baseline value of 2.5 to 2.9, 3.8 and 4.15 mEq/L on the 10th, 28th and 35th days after treatment respectively. Three weeks later, his blood pressure decreased from its original level of 146.3 +/- 1 0.7/94.6 +/- 5.3 mm Hg to 138.3 +/- 3.1/87.3 +/- 6.1 mm Hg (P < 0.05). The other 2 members (III -2 and III -4) showed modest improvement although their PACs decreased significantly. Using long-distance PCR, we found a 3.9 kb band in all 4 affected individuals, which was absent in 5 unaffected members from this pedigree or 8 patients with aldosterone-producing adenoma (APA) or idiopathic hyperaldosteronism (IHA). By DNA sequence analysis, we found that the breakpoint of "unequal crossing-over" is both within intron 2 of the 11beta-hydroxylase gene (CYP11B1) and the aldosterone synthase gene (CYP11B2).

CONCLUSIONSThe excess of mineralocorticoid in patients with GRA can be inhibited by exogenous glucocorticoids. The fusion gene resulting from unequal crossing-over between the 11beta-hydroxylase gene and the aldosterone synthase gene is the pathogenesis of this Chinese GRA pedigree.

Adrenocorticotropic Hormone ; physiology ; Adult ; Aldosterone ; blood ; Female ; Glucocorticoids ; therapeutic use ; Humans ; Hyperaldosteronism ; blood ; drug therapy ; genetics ; Mutation ; Pedigree

OBJECTIVETo investigate the relationships between the polymorphisms of estrogen receptor (ER) gene, bone mineral density (BMD) and bone biochemical markers in Chinese postmenopausal women.

METHODSBMD of lumbar spine and femoral neck were measured using dual-energy X-ray absorptiometry (DEXA) in 186 Chinese postmenopausal women. The PvuII and XbaI polymorphisms of the ER gene were detected using polymerase chain reaction (PCR). Bone biochemical markers, serum alkaline phosphatase, osteocalcin and pyridinoline were measured by ELISA.

RESULTSThe femoral neck (FN) BMD (Z score) was higher in pp compared to Pp (-0.01 +/- 0.12 vs. -0.35 +/- 0.09, P < 0.05) while lumbar spine BMD (Z score) was higher in XX type compared to Xx and xx genotypes (0.01 +/- 0.45 vs -1.53 +/- 0.17, -1.29 +/- 0.10, < 0.001 and 0.001, respectively). Women without Px haplotype (n = 79) had a higher BMD Z-score for the lumbar spine (-1.03 +/- 0.14 vs -1.45 +/- 0.11, P < 0.05) and femoral neck (-0.01 +/- 0.11 vs -0.31 +/- 0.09, P < 0.05) than those who had it (n = 107).

CONCLUSIONSThe present study suggested that the pp and XX genotypes of ER gene might play a certain role in maintaining FN and lumbar spine BMD. ER genotypes without Px haplotype might be favorable to bone mass, while those with it might exert some harmful effect on bone mineral density.

Aged ; Bone Density ; Female ; Genotype ; Humans ; Middle Aged ; Polymorphism, Genetic ; Postmenopause ; metabolism ; Receptors, Estrogen ; genetics ; Regression Analysis

A 23-year-old female patient underwent hyaluronic acid injection to treat bilateral decumbent ear deformity in April 2023 in another hospital. She developed dizziness, nausea, vomiting, intense pain in the left ear canal with bleeding fluid outflow, and significant hearing loss in the left ear 12 h after surgery. She was admitted to Jinan Meiao Plastic Surgery Hospital for specialized medical examination and electronic endoscopy after admission. The patient was diagnosed as acute external otitis after hyaluronic acid injection. The patient’s external ear canal was irrigated with drugs, injected with hyaluronidase solution, followed by symptomatic treatment. After 7 days, the patient’s symptoms disappeared, and her hearing was recovered. In clinical application of hyaluronic acid injection, plastic surgeons should strictly follow indications, master the knowledge of hyaluronic acid preparation and the anatomical structure of the injection site, as well as improve injection techniques, to avoid complications. Also, plastic surgeons should be familiar with the emergency treatment of various complications.

A 23-year-old female patient underwent hyaluronic acid injection to treat bilateral decumbent ear deformity in April 2023 in another hospital. She developed dizziness, nausea, vomiting, intense pain in the left ear canal with bleeding fluid outflow, and significant hearing loss in the left ear 12 h after surgery. She was admitted to Jinan Meiao Plastic Surgery Hospital for specialized medical examination and electronic endoscopy after admission. The patient was diagnosed as acute external otitis after hyaluronic acid injection. The patient’s external ear canal was irrigated with drugs, injected with hyaluronidase solution, followed by symptomatic treatment. After 7 days, the patient’s symptoms disappeared, and her hearing was recovered. In clinical application of hyaluronic acid injection, plastic surgeons should strictly follow indications, master the knowledge of hyaluronic acid preparation and the anatomical structure of the injection site, as well as improve injection techniques, to avoid complications. Also, plastic surgeons should be familiar with the emergency treatment of various complications.

OBJECTIVE: To explore the genetic etiology of a pedigree with mental retardation and hypotonia by using chromosome microarray analysis (CMA), low coverage massive parallel copy number variation sequencing (CNV-seq) and quantitative PCR (qPCR). METHODS: Genomic DNA was extracted from peripheral blood samples from two male patients and healthy members from the pedigree. CNV-seq was carried out for one patient. Suspected CNV was verified by qPCR. CNV-seq or single nucleotide polymorphism array (SNP array) were carried out for another patient and his family members. RESULTS: Both patients showed severe hypotonia and global development delay, in particular language delay. CNV-seq and SNP array indicated that both patients had carried a Xq28 duplication, with spanned 0.26 Mb and 0.42 Mb, respectively. Both duplications encompassed the MECP2 gene. CNV-seq analysis of their family members confirmed that the mother and one sister had carried similar duplications, while an elder brother was normal. CONCLUSION CNV-seq and CMA are rapid and effective tools for the diagnosis of MECP2 duplication syndrome in children with mental retardation, hypotonia and recurrent infections.