Purpose: To investigate the mechanism of acupuncture treatment of diabetic peripheral neuropathy. Methods: Acupuncture therapy was used to treat diabetic peripheral neuropathy, and compared with oral calcium antagonist and vitamin therapy by random control observation.Electromyography was performed for analysis at the same time. Results: Acupuncture treatment alleviated symptoms such as extremity numbness, pain and paresthesia in varying degrees in diabetic patients with peripheral neuropathy. The results of electromyography showed a marked improvement in motor and sensory conduction velocities. Conclusion: It is indicated that acupuncture therapy is markedly superior to oral calcium antagonist and vitamin therapy in clinical effect on diabetic peripheral neuropathy, and electromyographic recovery.

The study was aimed to observe the effect of recombinant human granulocyte-colony stimulating factors (rhG-CSF) in low dose on peripheral blood stem cell (PBSC) mobilization in unrelated healthy normal donors. G-CSF was administered at 5 microg/(kg x d) subcutaneously for successive 5 or 6 days to 56 unrelated donors. Stem cells were harvested on the fourth and fifth days or on the fifth and sixth days. The numbers of mononuclear cells (MNC), CD34(+) cells and Hb, Plt, and CD3(+), CD4(+), CD8(+) and CD20(+) cells were determined during the mobilization. The results showed that most common adverse events were bone pain (17.9%, 10/56), agrypnia (8.9%, 5/56) and lassitude (4.5%, 3/56) during rhG-CSF mobilization, but all donors were suffered less than grade II according to the WHO criteria, and did not need to stop the mobilization and not need to give special treatment. In harvest on day 4 - 5 and 5 - 6, MNC count was (5.95 +/- 1.52) x 10(8)/kg and (7.19 +/- 2.12) x 10(8)/kg; CD34(+) cells count was (3.03 +/- 1.09) x 10(6)/kg and (7.92 +/- 2.50) x 10(6)/kg. There were no significant differences in hemoglobin level and platelet count, the percentage of CD3(+) cells, CD4(+) cells, CD8(+) cells and CD20(+) cells between pre-mobilization and post-mobilization of rhG-CSF. It is concluded that the low dose of rhG-CSF 5 microg/(kg x d) for peripheral blood stem cell mobilization in unrelated healthy normal donors is safe and effective.
Adolescent ; Adult ; Blood Donors ; Female ; Granulocyte Colony-Stimulating Factor ; administration & dosage ; Hematopoietic Stem Cell Mobilization ; methods ; Humans ; Male ; Middle Aged ; Peripheral Blood Stem Cell Transplantation ; Recombinant Proteins

OBJECTIVEMucopolysaccharidosis type II (MPSII) is a lethal, X-linked recessive disorder caused by mutation of iduronate-2-sulfatase (IDS) gene. Up to now there is no really effective treatment for this disorder, therefore it is important to provide an accurate genetic diagnosis and prenatal diagnosis for the MPSII families. In this study, we identify the pathogenic mutation in a Chinese family with MPSII.

METHODThe 8 years old male proband from a Chinese family was clinically diagnosed with MPSII. There are other 4 patients with similar phenotypes in the family who died at 9, 11, 7 and 10 years of age, respectively. Mutation analysis was carried out by polymerase chain reaction and direct sequencing of all exons and exon/intron boundaries of IDS gene. Denaturing high performance liquid chromatography (DHPLC) analysis was performed to screen the unknown variations of IDS gene in 100 unrelated control males.

RESULTTwo allelic variants of exon 5 (c.684A > G) and exon 6 (c.851C > T) and a nonsense mutation of exon 7 (c.892C > T) were detected in IDS gene of the proband. Heterozygous mutations c.684A > G, c.851C > T and c.892C > T were detected in both proband's mother and maternal grandmother. The unknown variations of c.684A > G and c.851C > T were not found in the 100 unrelated control males. The male fetus (IV11) inherited the same mutation of IDS gene as the proband.

CONCLUSIONMutation c.892C > T of IDS gene causes MPSII in this family and prenatal diagnosis in one affected fetus was achieved.

Adolescent ; Adult ; Asian Continental Ancestry Group ; genetics ; Child ; DNA Mutational Analysis ; Family ; Female ; Humans ; Iduronate Sulfatase ; genetics ; Male ; Middle Aged ; Mucopolysaccharidosis II ; diagnosis ; genetics ; Mutation ; Phenotype ; Pregnancy ; Prenatal Diagnosis

Chromatography, High Pressure Liquid ; methods ; Cyclic AMP Response Element-Binding Protein ; genetics ; Female ; Humans ; Male ; Nerve Tissue Proteins ; genetics ; Prenatal Diagnosis ; methods ; RNA-Binding Proteins ; genetics ; SMN Complex Proteins ; Sequence Analysis, DNA ; Spinal Muscular Atrophies of Childhood ; diagnosis ; genetics

OBJECTIVETo analyze and compare the epidemiological features of rotavirus diarrhea among infants in the different areas so as to provide data for rotavirus vaccine research.

METHODSFrom Sep. 2001 through Sep. 2003, sentinel sites were set up in Suzhou Children's Hospital and Maanshan Hospital. Fecal samples from children (< 5 years) with acute diarrheal were collected and enzyme linked immunosorbent assay was used to detect rotavirus antigen. Reverse transcription-polymerase chain reaction was used to determine the G serotypes and P genotypes of rotavirus strains. The features of strains in the two places and other areas of China were analyzed and compared.

RESULTS(1) Rotavirus infection appeared in autumn and winter, but the peaks varied. In Suzhou the peaks were from December to next February in 2001, and November to next January in 2002. But in Maanshan, it was November to next January for both two years. (2) Rate of rotavirus infection in Suzhou was much higher than that in Maanshan, infective rates of Inpatient Department and Outpatient Department are 47.28%, 28.39% and 30.38%, 14.77% respectively in the two hospitals. (3) Rates of infection in two hospitals showed age difference but the highest group was in 6 - 35 month-olds. No gender difference was found. (4) Secular distribution of G-typing and P-typing of rotavirus strain was different in Suzhou and Maanshan. G3 was mainly found in Suzhou and G1 in Maanshan. From 2002-2003 on, G3 became dominant in Maanshan.

CONCLUSIONRotavirus caused diarrhea among infant and children were different in terms of areas, period and types, suggesting that the introduction of rotavirus vaccine should be adjusted according to different strains with specific types and optimal timeline.

Child, Preschool ; China ; epidemiology ; Diarrhea, Infantile ; epidemiology ; virology ; Female ; Humans ; Incidence ; Infant ; Male ; Rotavirus Infections ; epidemiology ; Seasons ; Sentinel Surveillance

OBJECTIVETo detect the underlying genetic defect in two Chinese families with hereditary multiple exostoses and provide genetic counseling.

METHODSPotential mutations in EXT1 and EXT2 genes in the probands were detected by direct sequencing of PCR-amplified exons. Suspected mutations were verified in all available family members and 200 unrelated healthy controls.

RESULTSA heterozygous frameshift mutation c.346_356delinsTAT in exon 1 of EXT1 and a heterozygous deletion mutation c.2009-2012del(TCAA) in exon 10 of EXT1 were respectively detected in affected members from the two families. The same mutations were not detected in unaffected members and 200 unrelated healthy controls. No mutations in EXT2 were detected in the two families.

CONCLUSIONTwo novel mutations of EXT1 have been detected in association with hereditary multiple exostoses in two Chinese families. Above results have provided a basis for genetic counseling for the two families and expanded the spectrum of EXT1 mutations.

Adolescent ; Adult ; Aged ; Asian Continental Ancestry Group ; genetics ; Child ; Child, Preschool ; DNA Mutational Analysis ; methods ; Exostoses, Multiple Hereditary ; enzymology ; genetics ; Female ; Heterozygote ; Humans ; Male ; Middle Aged ; N-Acetylglucosaminyltransferases ; genetics ; Pedigree ; Sequence Deletion ; Young Adult

Objective To investigate the methods of preventing and relieving the discomfort caused by indwelling after ENBD for the patients with indwelling nasal biliary drainage sets.Methods A total of 90 patients with indwelling nasal biliary drainage sets were recruited and randomly divided into experimental group (n=45),who were received sprayed into throat with mint water,and control group (n =45),who were received sprayed into throat with saline.Dry mouth nasal biliary drainage sets,odynophagia,pharyngodynia,oropharyngeal complications and nasal irritation were assessed after 6,30 and 54h therapy.Results The incidence of oropharyngeal complications [(4.33 ± 1.29) vs (5.67 ± 1.11)],odynophagia [(5.20 ± 1.47) vs (7.60 ± 1.24)] and nasal irritation [(0.80 ± 0.56) vs (1.27 ± 0.59)] in experimental group were less than that in control group after 6 hours (t =3.030,4.823,2.214,respectively; P ＜ 0.05).After 30 hours,the incidence of oropharyngeal complications [(3.33 ±0.90) vs (4.87 ±0.64)],odynophagia [(3.73 ± 1.39) vs (6.13 ± 1.25)],nasal irritation [(0.53 0.64) vs (1.07 0.70)] in experimental group were less than that in control group (t =5.379,4.985,2.172,respectively; P ＜ 0.05).And after 54 hours,the incidence of oropharyngeal complications,odynophagia,nasal irritation in experimental group were less than that in control group [(2.47±0.83) vs (4.53 ±0.92),(2.87±1.19) vs (5.27±0.96),(0.27±0.46) vs (0.93 ±0.70),respectively;P ＜0.01].Postoperative pharyngodynia after the initial in 6 hours and 30 hours has no significant difference (P ＞ 0.05).While after 54 hours,the advantages of mint water became more obvious [(2.93 ± 0.96) vs (4.06 ± 1.22),t =2.822,P ＜ 0.05].No significant difference was found in the incidence of pharyngodynia (P ＞ 0.05).Conclusions Spray homemade mint water into pharyngeal of patients can release postoperative discomfort caused by indwelling nasal biliary.

Objective To analyze the clinical features and genetic background of mitochondrial neurogastrointestinal encephalomyopathy(MNGIE). Methods The clinical data of an adult patient with MNGIE wereretrospectively reviewed. Meanwhile, the mitochondrial disease-related gene of the patient and his families weredetected by target area capture sequencing with NimbleGen solid phase chip. Results This patient presented with progressive pseudo-gastrointestinal obstruction, leukoencephalopathy, cachexia, peripheral neuropathy, extraocularmuscle weakness, and multiple metabolic disorders. A homozygous mutation(TYMP gene c.217G >A) was identified. The patient's parents and sister were heterozygous for this novel mutation. Conclusion A novel TYMP gene mutation that caused MNGIE in a Chinese adult patient was confirmed by gene detection.

OBJECTIVETo investigate the effective method for correction of nasal deformity after unilateral cleft lip.

METHODS50 cases with secondary nasal deformity after unilateral cleft lip were retrospectively analyzed. All the patients underwent nasal and lip muscle reposition operation to restore the symmetry of nasal alar.

RESULTSThe nasal deformity was greatly improved in all the 50 cases. The malposition of nasal column and nasal alar was corrected. The symmetry was markedly improved. The measurement before and after operation showed significant difference ( P<0.05).

CONCLUSIONSThe reasons of secondary nasal deformity after unilateral cleft lip are complicated. The muscle reposition operation can effectively improve the deformity.

Adolescent ; Adult ; Child ; Cleft Lip ; complications ; Facial Muscles ; surgery ; Female ; Humans ; Male ; Middle Aged ; Nose ; abnormalities ; surgery ; Nose Deformities, Acquired ; surgery ; Retrospective Studies ; Rhinoplasty ; methods ; Treatment Outcome ; Young Adult

OBJECTIVETo assist the establishment of platform and provide the reference standard for mutation detection in spinocerebellar ataxia (SCA) subtypes 1, 2, 3, 6, 7, 8, 10, 12, 17 and dentatorubral-pallidoluysian atrophy (DRPLA) in Chinese Han population.

METHODSThe nucleotide repeat numbers of the 9 SCA subtypes and DRPLA were detected using fluorescence-PCR and capillary gel electrophoresis technique in 300 healthy Chinese Han individuals.

RESULTSAmong the 300 healthy controls, the range of the CAG trinucleotide repeat number was 17 to 35 in SCA1, 14-28 in SCA2, 13-41 in SCA3/MJD, 4-16 in SCA6, 5-17 in SCA7, 5-21 in SCA12, 23-41 in SCA17, and 12-33 in DRPLA; and the range of CTA/CTG trinucleotide repeat number on SCA8 locus was 12-43 and the range of ATTCT pentanucleotide repeat number on SCA10 locus was 9-32. Of which, the 12 CTA/CTG repeats of SCA8, 9 ATTCT repeats of SCA10, 23 CAG repeats of SCA17 were the shortest normal repeat number, while the 41 CAG repeats of SCA3/MJD, 32 CAG repeats of SCA10 were the largest normal number that have not been reported.

CONCLUSIONThe normal ranges of polynucleotide repeats of different subtypes of SCA vary with geographical areas and ethnicities. It might be associated with the genetic and ethnic backgrounds. This is the first normal reference standard of polynucleotide repeat number of these ten SCA subtypes in Chinese Han.

Adult ; Asian Continental Ancestry Group ; ethnology ; genetics ; Base Sequence ; Case-Control Studies ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Myoclonic Epilepsies, Progressive ; ethnology ; genetics ; Spinocerebellar Ataxias ; ethnology ; genetics ; Trinucleotide Repeat Expansion