[Clinical observation on treatment of 10 patients with chronic inflammatory demyelinating polyneuropathy by gullong tongluo capsule combined with prednisone].

OBJECTIVE: To observe and evaluate objectively the clinical effect of Guilong Tongluo Capsule (GTC) in treating chronic inflammatory demyelinating polyneuropathy (CIDP). METHODS: Sixty CIDP patients were equally randomized into two groups. The treated group was administered with GTC and prednisone, while the control group with prednisone alone. Changes before and after 3-month treatment in terms of muscle force, functional and sensory disturbance of extremities, as well as scoring by Activity of Daily Living Scale (ADL) and electromyogram (EMG) for nerve conduction velocity were observed and compared. RESULTS: The total effective rate gained in the treated group and the control group was 90.0% (27/30) and 70.0% (21/30) respectively, showing significant difference between them (chi2 = 14.82, P < 0.01). The improvement in the treated group was superior to the control group in muscle force of lower limb, motive and sensory function of extremities, ADL scores and motive function of ulnar nerve (P < 0.05, P < 0.01). CONCLUSION: The curative effect of GTC combined with prednisone in treating CIDP was better than that of prednisone alone.

[Gene mutation analysis of a Chinese family with osteogenesis imperfecta].

OBJECTIVE: To study the gene mutation of collagen, type I, alpha 1 (COL1A1) associated with the clinical characterization of a Chinese family with type I osteogenesis imperfecta (OI). METHODS: Polymerase chain reaction, DNA sequencing and restriction endonuclaese analysis were used to check all the members in the family with OI and 50 normal control people for detecting the mutation of COL1A1 gene. RESULTS: A 2461G>A (G821S) mutation was found and identified in COL1A1 gene of OI patients, to whom the individual clinical characterization was displayed, however. And the other members in the family with OI and the control did not have such gene mutation as 2461G>A. CONCLUSION: The mutation of COL1A1 gene is one of the OI etiologic causes in China. There is no simple universal linkage between such gene changes and OI phenotype, but which not only involved in the OI genotype but the genetic background as well.

[A new mutation in COL1A1 gene in a family with osteogenesis imperfecta].

OBJECTIVE: Osteogenesis imperfecta (OI) is a congenital disease of connective tissue of increased bone fragility and low bone mass, most often caused by single amino acid substitution of glycine residues in the collagen, type I, alpha 1 protein (COL1A1) gene or the collagen, type I, alpha 2 protein (COL1A2) gene, encoding type I procollagen chains. We describe here the clinical, biochemical, and molecular characterization of a family with type I OI in China and would like to explore whether the biochemical characterization of OI in China is different from that in other countries. METHODS: Through clinical research, we study the clinical characteristic of the OI household. Genomic DNA was isolated from peripheral blood lymphocytes of the proband and his family members by saturation hydroxybenzene-chloroform methods; amplification of target COL1A1 gene by Polymerase chain reaction with 23 pairs of different primers; purification; direct sequencing of the Polymerase chain reaction product. According to the mutation site, we took restriction enzyme analysis to 50 normal control people. RESULTS: We found a G and A heterozygosis mutation at the exon 48 causing an a1 (I) p. G1157D substitution in the proband and his sister who is also a sufferer of OI. At the same time, other normal people in the family and other normal control people do not have this change. CONCLUSION: This is the first delineation of an aspartic acid substitution in new site of the a1 (I) chain causing nonlethal osteogenesis imperfecta. Only nine aspartic acid substitution in type I collagen has been fully reported in the world. Now we revealed a new nosogenesis of OI. Since only few of nucleotide changes in type I collagen glycine codons would result in an aspartic acid substitution, these are predicted to be infrequent. Furthermore, it is possible to suggest that nosogenesis of OI in china is different from other countries.

[Clinical features of pathologically confirmed metastatic bone tumors--a report of 390 cases].

BACKGROUND & OBJECTIVE: With the development of diagnostic techniques of imaging and pathology, early diagnosis of metastatic bone tumors has been greatly improved, but the clinical characteristics which are essential for diagnosis are rarely reported. In this article, the clinical features of pathologically confirmed metastatic bone tumors were analyzed for further improvement of early diagnosis and treatment. METHODS: Clinical data of 390 patients with pathologically confirmed metastatic bone tumors, treated from 1980 to 2003 at The First Affiliated Hospital of Sun Yat-sen University, were reviewed respectively to summarize the clinical features, including disease history, predilection sites, clinical manifestation, and imaging presentations. RESULTS: Of the 390 patients, the ratio of men to women was 2.12:1; the median age was 55.7 years, and 81.5% of the patients were over 41 years old. The primary tumors were lung cancer (21.8%), prostate cancer (13.1%), breast cancer (7.4%), liver cancer (6.4%), gastrointestinal cancer (5.7%), and unknown cancers (24.6%). The common metastatic sites were spine (47.7%), pelvis (18.2%), femur (15.4%), and rib (12.6%). Multiple metastases occurred in 20.5% of the patients. The main symptoms were skeletal pain (53.3%), pathologic fractures (10.3%), dysfunction (4.9%), and paraplegia (2.1%). Primary tumor detected before metastasis accounted for 29.7% of the patients with a median metastatic time of 319 days, and the metastatic intervals were uncertain in 70.3% of the patients. Osteolytic types accounted for 80.7% of the cases in radiographic patterns, followed by osteosclerotic (10.5%) and mixed types. CONCLUSIONS: Metastatic bone tumors most frequently occur in patients older than 41 years, and commonly originate from lung, prostate, breast, and liver. Vertebrae, pelvis, femur, and rib are the most common sites of metastases. The clinical manifestation is extensive and nonspecific. Most lesions present osteolytic patterns. Metastases with unknown origin account for 24%. In spite of complexity, the clinical features should be mastered for early diagnosis and treatment.