Enhanced but hypofunctional osteoclastogenesis in an autosomal dominant osteopetrosis type II case carrying a c.1856C＞T mutation in CLCN7

Type II autosomal dominant osteopetrosis(ADO2), which is the most common form of osteopetrosis, is caused by heterozygous mutations in the chloride channel 7(CLCN7) gene. The osteopetrosis of ADO2 has been attributed to hypofunctional osteoclasts. The mechanism underlying the abnormality in osteoclast function remains largely unknown. This study was designed to investigate gene mutations and osteoclast function in a case that was clinically diagnosed as ADO2. Genomic DNA was extracted from blood samples of this patient, and the 25 exons of CLCN7 were amplified. Peripheral blood from the ADO2 subject and a healthy age- and sex-matched control was used to evaluate osteoclastogenesis, osteoclast morphology, and bone resorption. Analysis of DNA from the patient showed a germline heterozygous missense mutation,c.1856C>T(p.P619L), in exon 20 of CLCN7. A similar homozygous mutation at this site was previously reported in a patient with autosomal recessive osteopetrosis. When cultured, the peripheral blood mononuclear cells(PBMCs) from the ADO2 patient spontaneously differentiated into mature osteoclasts in vitro. The ADO2 patient’s PBMCs formed enhanced, but heterogeneous, osteoclasts in both the presence and absence of macrophage-colony stimulating factor, and nuclear factor-?B ligand. Bone resorption was reduced in the ADO2 patient’s osteoclasts, which exhibited aberrant morphology and abnormal distribution of integrin avβ3. Gene analysis found increased c-fos expression and reduced Rho A and integrin beta 3expression in ADO2 cells. In conclusion, our data suggest that enhanced, heterogeneous osteoclast induction may be an intrinsic characteristic of ADO2.

SURGICAL MANAGEMENT OF EHLERS-DANLOS SYNDROME:FIRST REPORT OF A PEDIGREE IN CHINA

OBJECTIVE: To describe a case of Ehlers-Danlos syndrome type IV and its pedigree in China. METHODS: Clinical materials of a case of Ehlers-Danlos syndrome type IV and a pedigree of 6 members within 4 generations were analyzed. Dilated internal jugular vein in the proband was removed by operation. The diagnosis, surgical treatment, and postoperative complications were retrospectively reviewed. RESULTS: Vessels of the proband in the pedigree were crisp and easily lacinated during the procedure of removing his internal jugular vein. Repeating postoperative hematomas were found though complete stanching was achieved during the operation. The patient was successfully recovered by promptly debridgement and needle sucking. The other 5 members of the pedigree all had the triads of Ehlers-Danlos syndrome. CONCLUSIONS: Though it was of extremely low morbidity rate, the high mortality rate and complication of Ehlers-Danlos syndrome deserve great attention during surgical management, especially in patients with Ehlers-Danlos syndrome type IV. Surgeons should be aware of the ponderance of its complications and combined diseases to avoid fatal intraoperative vascular lascination and incontrollable hemorrhage.

Evaluation of employee profiles using a hybrid clustering and optimization model Practical study

Purpose-The purpose of this paper is to introduce an evaluation methodology for employee profiles that will provide feedback to the training decision makers.Employee profiles play a crucial role in the evaluation process to improve the training process performance.This paper focuses on the clustering of the employees based on their profiles into specific categories that represent the employees’characteristics.The employees are classified into following categories:necessary training,required training,and no training.The work may answer the question of how to spend the budget of training for the employees.This investigation presents the use of fuzzy optimization and clustering hybrid model(data mining approaches)as a fuzzy imperialistic competitive algorithm(FICA)and k-means to find the employees’categories and predict their training requirements.Design/methodology/approach-Prior research that served as an impetus for this paper is discussed.The approach is to apply evolutionary algorithms and clustering hybrid model to improve the training decision system directions.Findings-This paper focuses on how to find a good model for the evaluation of employee profiles.The paper introduces the use of artificial intelligence methods(fuzzy optimization(FICA)and clustering techniques(K-means))in management.The suggestion and the recommendations were constructed based on the clustering results that represent the employee profiles and reflect their requirements during the training courses.Finally,the paper proved the ability of fuzzy optimization technique and clustering hybrid model in predicting the employee’s training requirements.Originality/value-This paper evaluates employee profiles based on new directions and expands the implication of clustering view in solving organizational challenges(in TCT for the first time).

MULTIPLE ENDOCRINE NEOPLASIA TYPE IIB REPORT OF A CASE

Multiple endocrine neoplasia (MEN) type IIb,called also MEN III or mucosal neuroma syndrome,is a rare condition. A typical case confirmed by au-topsy is here reported and discussed briefly.CASE REPORTA 27-year-old male patient complained of fre-quent epigastric pain and diarrhea for 12 years. Atthe age of 21, he had a biopsy of a papillary lesionin his eyelids, and histological examination con-firmed the diagnosis of mucosal neuromas. Twoyears later, subtotal gastrectomy was done for a sus-pected perforated peptic ulcer at a local hospital. Ex-ploration showed an ulcer at the gastric antrum andanother at the duodenal bulb and hypertrophicgastritis and proliferation of the parietal cells werefound histologically. Postoperatively, diarrhea per-sisted and epigastric distention appeared. On Septem-ber 12,1990, the patient was referred to ourhospital.