OBJECTIVETo establish a means for prenatal prediction of spinal muscular atrophy (SMA) through survival motor neuron (SMN) gene deletion analysis and genetic counseling in families with a child affected with SMA.

METHODSGenetic analysis for prenatal prediction of Werdnig-Hoffmann disease was performed in a at risk Chinese family by polymerase chain reaction (PCR)-single-strand conformation polymorphism (SSCP) in SMN gene exons 7 and 8.

RESULTSThe pregnancy was positive for the homozygous deletion of the SMN gene, thus the fetus was diagnosed as being affected and the pregnancy was terminated.

CONCLUSIONThis approach is fast and reliable for DNA-based prenatal diagnosis of Werdnig-Hoffmann disease.

China ; Female ; Fetal Diseases ; diagnosis ; Gene Deletion ; Genetic Counseling ; Humans ; Pregnancy ; Prenatal Diagnosis ; Spinal Muscular Atrophies of Childhood ; diagnosis ; genetics

OBJECTIVETo observe the effects of Porphyromonas gingivalis (Pg), Actinobacillus actinomycetemcomitans (Aa), Escherichia coli (Ec) lipopolysaccharides (LPS) on the production of IL-11 and IL-6 from healthy human gingival fibroblasts (HGF), and the effects of endogenous prostaglandin on HGF IL-11 and IL-6 production stimulated with the above LPS.

METHODSHGF were stimulated with Pg-, Aa-, Ec-LPS of different concentrations (0.1, 1, 10 mg/L) for 24 h. And HGF were also stimulated with the combinations of 10 mg/L Pg-, Aa-, Ec-LPS and 10(-6) mol/L indomethacin respectively for 24 h. Levels of IL-11 and IL-6 in the supernatants were quantitated by ELISA.

RESULTSLPS from Aa, Ec, at the concentration of 10 mg/L and from Pg at the concentrations 1, 10 mg/L significantly augmented IL-11 production by HGF. IL-6 production was also significantly increased by stimulation with Aa-LPS at concentrations 1, 10 mg/L and with Ec-, Pg-LPS at concentrations 0.1, 1, 10 mg/L. In addition, IL-11 production was lower than IL-6 production by HGF stimulated with LPS. Indomethacin significantly inhibited IL-6 and IL-11 production in LPS-stimulated HGF.

CONCLUSIONSAa-, Pg-, Ec-LPS may significantly increase IL-11 and IL-6 level in the supernatants of HGF, and endogenous prostaglandin may upregulate IL-11 and IL-6 production in LPS-stimulated HGF.

Aggregatibacter actinomycetemcomitans ; chemistry ; Cells, Cultured ; Dose-Response Relationship, Drug ; Escherichia coli ; chemistry ; Fibroblasts ; drug effects ; metabolism ; Gingiva ; cytology ; metabolism ; Humans ; Indomethacin ; pharmacology ; Interleukin-11 ; biosynthesis ; Interleukin-6 ; biosynthesis ; Lipopolysaccharides ; pharmacology ; Porphyromonas gingivalis ; chemistry

The purpose of this study is to evaluate the efficacy of hochuekkito for late-onset hypogonadism (LOH) patients. We administered hochuekkito 7.5 g/day for 8 weeks to 47 patients with LOH whose AMS scale was more than 27. We assessed the patients' symptom change with the AMS, SHIM, SDS, BDI, and SF-36. We measured their endocrine profiles and levels of their cytokines. At the end of study, 31 of 47 patients were evaluable. No significant difference in subjective symptoms was seen with any questionnaire after 8 weeks hochuekkito administration. However, hochuekkito significantly increased free testosterone and decreased ACTH/cortisol levels. Thus we believe hochuekkito is beneficial for the treatment of LOH.

PURPOSE: The purpose of this study was to investigate the clinical and hormonal features of patients with incidentally discovered adrenal adenomas in relation to corticotropin releasing hormone (CRH) testing and the clinical outcome of adrenalectomy. MATERIALS AND METHODS: Twenty-three consecutive patients with incidentally detected adrenal adenomas were included in this retrospective study. All the patients underwent abdominal computed tomography scans and hormonal assays, including assessment of circadian rhythms of plasma cortisol and corticotropin (adrenocorticotropic hormone, ACTH), a corticotropin stimulation test, and low-dose and high-dose dexamethasone tests. The patients were reevaluated at regular intervals (6, 12, and 24 months) for a median period of 24 months. Subclinical Cushing's syndrome (SCS) was diagnosed in patients with subtle hypercortisolism who did not present clinical signs of Cushing's syndrome. RESULTS: We calculated the responsive index (peak value of ACTH in CRH test/baseline value of ACTH in CRH test). Of 23 patients, 6 had Cushing's syndrome, 8 had SCS, and 9 had a non-functioning tumor. All patients underwent laparoscopic adrenalectomy. Several patients (5 of 6 with Cushing's syndrome and 2 of 8 with SCS) required cortisol replacement therapy after surgery. The remaining patients required no hormonal replacement after surgery. Those who required hormone replacement had a responsive index of less than 1.2. Those who did not need hormone replacement therapy had a responsive index of more than 2.0. CONCLUSIONS: In our limited experience, the responsive index of the CRH test might be a valuable tool for predicting the need for cortisol replacement after surgery in patients with SCS.
Adenoma ; Adrenalectomy ; Adrenocorticotropic Hormone ; Circadian Rhythm ; Corticotropin-Releasing Hormone ; Cushing Syndrome ; Dexamethasone ; Hormone Replacement Therapy ; Humans ; Hydrocortisone ; Plasma ; Retrospective Studies