[Correlation analysis of low-dose X-ray ionizing radiation and thyroid function in radiation workers].

Objective: To investigate the effect of low-dose X-ray ionizing radiation on thyroid function of radiation workers. Methods: From January to December 2021, a total of 1039 medical workers in some tertiary hospitals in Wuhan were selected as the survey subjects, of which 518 radiation workers were selected as the exposure group, and 521 non-radiation workers were selected as the control group. The general conditions of the two groups were collected, and 5 indicators of thyroid function were measured, including total thyroxine (TT(4)) , total triiodothyronine (TT(3)) , free triiodothyronine (FT(3)) , thyroid stimulating hormone (TSH) , and free thyroxine (FT(4)) . The annual cumulative dose of ionizing radiation exposure in the exposure group was collected. Pearson χ(2) test and independent sample t test were used to compare the general conditions, 5 indicators of thyroid function and abnormal rate between the two groups. Linear regression model was used to analyze the correlation between the annual cumulative dose and 5 indicators of thyroid function in the exposure group. Binary logistic regression was used to analyze the influencing factors of thyroid dysfunction in the exposure group. Results: The TT(4) levels of the workers in the control group and the exposure group were (7.95±1.07) µg/dl and (8.26±1.41) µg/dl, respectively, and the FT(4) levels were (16.33±2.19) pmol/L and (17.15±2.42) pmol/L, respectively, the rate of thyroid dysfunction was 4.80% (25/521) and 8.49% (44/518) , and the above differences were statistically significant (P<0.05) . Linear regression analysis showed that the annual cumulative dose of the exposure group was significantly correlated with TT(4), TT(3), FT(4), and TSH (P<0.05) . For every 1 mSv increase in the annual cumulative dose, TT(4) increased by 1.661 µg/dl, FT(4) increased by 1.422 pmol/L, TT(3) decreased by 0.113 ng/ml, and TSH decreased by 0.731 µIU/ml. Binary logistic regression analysis showed that the older the radiation workers, the higher the risk of thyroid dysfunction (OR=1.080, 95% CI: 1.016-1.148, P=0.013) ; the greater the annual cumulative dose, the higher the risk of thyroid dysfunction (OR=6.400, 95%CI: 1.796-22.811, P=0.004) . Conclusion: The annual cumulative dose of low-dose X-ray ionizing radiation is positively correlated with thyroid function TT(4) and FT(4) of radiation workers, and negatively correlated with TT(3) and TSH; the greater the age and annual cumulative dose, the higher the risk of thyroid dysfunction.

[Electronic cigarette use-associated lung injury: a case report and literature review].

Objective: To improve the clinical recognition of electronic cigarette or vaping product use-associated lung injury. Methods: A 67 year old patient with lung injury induced by e-cigarette was reported. The concentrations of vitamin E acetate (VEA) and tetrahydrocannabinol (Δ9-THC) in BALF were measured by UHPLC-MS/MS. A literature review was performed with"Vaping-Associated Lung Injury""vape","e-cigarette","electronic cigarette","EVALI","electronic nicotine device","lung","injury","case"as Mesh terms in PubMed. Results: There were 208 cases reported in the literature, 71.6% of whom were male, and 28.4% were female, with a median age of 27 years (17-67 years), while 2 patients (1%) were over 60 years old. The median time of using e-cigarette was 90 days (2 weeks-3 years). Of the 208 patients, the most common symptoms were dyspnea, fever, chest pain, hemoptysis, and gastrointestinal symptoms such as nausea, abdominal pain or diarrhea. The most common manifestation of chest CT was bilateral ground glass opacity (n=119, 57.2%). A total of 70 patients received bronchoscopy and BALF, which showed that the ratio of macrophages was (49.5±29.8)%, neutrophil (34.7±28.7)%, lymphocytes (10.1±7.4)%, and eosinophils (2.4±3.6)%. The "foamy" alveolar macrophages were positive in 65 cases (92.9%).A total of 132 patients (63.5%) were treated with antibiotics, and 162 patients (77.9%) were treated with glucocorticoids. The initial dose of methylprednisolone was 40 mg and the maximum was 500 mg. 48 patients (23.1%) were mechanically ventilated and 10 patients (4.8%) were treated with extracorporeal membrane oxygenation (ECMO). Of the 208 patients, 202(97.1%) patients improved and 6 (2.9%) died. Conclusion: Our case and reported cases should alert physicians to the clinical presentation of vaping-associated lung injury for early diagnosis and prompt management. It is suggested that the standardized management of e-cigarette should be strengthened to avoid similar situation of e-cigarette-related lung injury in China. Additional work is needed to characterize the pathophysiology of this disease.

[Clinical characteristics and risk factors in 118 patients with systemic lupus erythematosus and osteonecrosis].

Objective: To investigate the clinical characteristics and risk factors for osteonecrosis (ON) in patients with systemic lupus erythematosus (SLE). Methods: This is a case-control study. A total of 118 patients diagnosed with SLE complicated with ON (study group) were retrospectively analyzed between 2014 and 2019. Gender, age, and course matched 118 SLE patients without ON were selected as controls. Clinical manifestations, laboratory findings, medical history, and treatments were recorded and analyzed. Results: Among 118 patients, the male to female ratio was 20 to 98 with a median age of 27 years and course of disease 1-168 months. Compared with the control group, the study group presented a longer cumulative duration of glucocorticoid therapy [36.5 (0-168) months vs. 19.0(0-168) months on average, P<0.05], a higher incidence of osteoporosis (29.7% vs. 4.2%, P<0.001), a higher frequency of immune-suppressive therapy (83.9% vs. 64.4%, P=0.035), more organs involveed [median 2 (0-5) vs. 1 (0-4)], and a higher SLE disease activity index (SLEDAI) (14.22±7.40 vs. 11.63±6.11, P<0.05) in univariate logistic regression. The control group had a higher rate of positive Coombs test (39.8% vs. 7.6%, P<0.05). No statistical difference on methylprednisolone (MP) pulse therapy (P>0.05) was observed. Multivariate logistic regression suggested that SLEDAI (OR= 1.070, 95%CI 1.026-1.116, P<0.005), osteoporosis (OR=10.668, 95%CI 3.911-29.103, P<0.001) and a positive Coombs test(OR=0.492, 95%CI 0.266-0.910, P<0.05) were related to the development of ON in SLE patients. Conclusion: A higher disease activity and the presence of osteoporosis are associated with an increased risk of ON in patients with SLE, and positive Coombs test seems a protective factor of ON.

[Associated factors of different fatigue dimensions in elderly patients with rheumatoid arthritis].

Objective: To investigate the associated factors of different dimensions of fatigue in elderly patients with rheumatoid arthritis (RA). Methods: A cross-sectional analysis was performed in the elderly outpatients with RA (age ≥ 60 years) in the First Affiliated Hospital of Sun Yat-sen University from January 2018 to June 2019. Fatigue was measured by Multidimensional Fatigue Inventory-20 (MFI-20) and 36-item Short Form Health Survey-Vitality (SF-36-VT). Physical fatigue and mental fatigue were subsequently measured by MFI-20 subscales. Results: A total of 104 patients were included. Male-to-female ratio was 1∶3.3. The average age was (68±6) years. The MFI-20 score and SF-36-VT score were 60±14 and 64±20, respectively. The score of physical fatigue measured by MFI-20 was 14±3, and mental fatigue scored 10±4 (P<0.001). Arthralgia, disease activity, disability, insomnia, depression and anxiety were correlated with fatigue assessed by MFI-20 (correlated coefficient: 0.48-0.62). Multivariable regression analysis showed that arthralgia and depression were associated with physical fatigue (Standardized regression coefficients were 0.44 and 0.38, respectively). Insomnia, depression and anxiety were associated factors of mental fatigue (Standardized regression coefficients were 0.20, 0.32 and 0.24, respectively). Conclusions: Elderly patients with RA experiencehigh level of fatigue, mainly presenting as physical fatigue. Arthralgia and depression mainly affect physical fatigue, and arthralgia is a critical factor. Insomnia, depression and anxiety are associated with mental fatigue.

[Outcomes of 33 patients with anaplastic large cell lymphoma treated after hematopoietic stem cell transplantation].

Objective: To explore the efficacy and prognostic factors of hematopoietic stem cell transplantation (HSCT) for the treatment of patients with anaplastic large cell lymphoma (ALCL) . Methods: The clinical records of 33 ALCL patients after HSCT were collected and analyzed retrospectively to evaluate the rates of overall survival (OS) and recurrence after autologous (auto-HSCT) and allogeneic HSCT (allo-HSCT) and the factors influencing prognosis. Results: The median-age of this cohort of 33 ALCL cases at diagnosis was 31 (12-57) years old with a male/female ratio of 23/10, 24 cases (72.7%) were ALK(+) and 9 ones (27.3%) ALK(-). Of them, 25 patients (19 ALK(+) and 6 ALK(-)) underwent auto-HSCT and 8 cases (5 ALK(+) and 3ALK(-)) allo-HSCT with a median follow-up of 18.7 (4.0-150.0) months. Disease states before HSCT were as follows: only 6 patients achieved CR status and received auto-HSCT, 16 patients achieved PR (14 cases by auto-HSCT and 2 ones allo-HSCT) , the rest 11 cases were refractory/relapse (5 cases by auto-HSCT and 6 ones allo-HSCT) . There were 7 cases died of disease progression (5 after auto-HSCT and 2 allo-HSCT) and 5 cases treatment-related mortality (TRM) (2 after auto-HSCT and 3 allo-HSCT) , TRM of two groups were 8.0% and 37.5%, respectively. Both the median progression-free survival (PFS) and OS were 15 months after auto-HSCT, the median PFS and OS after allo-HSCT were 3.7 (1.0-90.0) and 4.6 (1.0-90.0) months, respectively. There was no statistically significant difference in terms of survival curves between the two groups (OS and PFS, P=0.247 and P=0.317) . The 2-year OS rates in auto-HSCT and allo-HSCT groups were 72% and 50%, respectively. The 5-year OS rates in auto-HSCT and allo-HSCT groups were 36% and 25%, respectively. Conclusion: ALCL treated by chemotherapy produced high rates of overall and complete responses. Chemotherapy followed by auto-HSCT remained to be good choice for patients with poor prognostic factors. High-risk patients should be considered more beneficial from allo-HSCT.

[Evaluation of clinical outcomes of allogeneic hematopoietic stem cell transplantation for relapsed/refractory peripheral T-cell lymphoma with chemoresistance].

Objective: To evaluate the clinical outcomes in patients with relapsed or refractory peripheral T-cell lymphoma (PTCL) who had undergone allogeneic hematological stem cell transplantation (allo-HSCT). Methods: From June 2007 to June 2017, the clinical data of PTCL patients who underwent HSCT from eight hospitals were assessed retrospectively. Results: There were 23 patients diagnosed as relapsed or refractory PTCL with chemoresistance who underwent allo-HSCT. Among these patients, 18 were identified as progressive disease (PD) status and 5 patients as stable disease (SD) status before allo-HSCT. Seventeen patients received allo-HSCT from matched sibling donor (MSD),2 patients from matched unrelated donor and 4 patients from related haplo-identical donor (HD). After a median follow-up of 29 months, 21 patients survived longer than 28 days after allo-HSCT. Hematopoietic reconstitution was achieved in 20 of the 21 patients. The median time of myeloid and platelet engraftment were+13 (9-22) d and+16(10-38) d, respectively. The 100-d treatment-related mortality rate was 13.1%. Acute GVHD occurred in 11(47.8%) patients at a median time of 22(6-82) d after transplantation. Grade Ⅱ~Ⅳ aGVHD occurred in 6 patients. Chronic GVHD occurred in 10 patients at a median of 7.9 (3.5-27) months. After a median follow-up of 29 months, 13 patients died after HSCT. Four of them died of complications associated with allo-HSCT, and other 9 patients died of the primary lymphoma. The 3-years cumulative overall survival (OS) and progress-free survival (PFS) were 43.03% (95%CI: 29.79-69.16) and 39.13% (95%CI: 23.50-65.14), respectively. No significant difference was found in the 3-year PFS between patients with PD status and SD status before allo-HSCT (P=0.133). Conclusion: Allo-HSCT can be a promising treatment for relapsed or refractory PTCL with chemoresistance.

[Ultrasound screening and follow-up study of congenital anomalies of the kidney and urinary tract in neonates].

OBJECTIVE: To investigate the incidence of congenital anomalies of the kidney and urinary tract (CAKUT) in neonates, and to evaluate the value of urinary ultrasound screening in the early postnatal period. METHODS: The neonates born or treated in Beijing Tsinghua Changgung Hospital affiliated to Tsinghua University between January 2016 and December 2018 accepted the urinary ultrasound screening, and the neonates with problem were followed up. In the meanwhile, the maternal pregnancy data were analyzed to screen out the risk factors associated with the onset of CAKUT. RESULTS: (1)A total of 2 655 neonates were screened by ultrasonography, of whom 82 neonates had been diagnosed with CAKUT (male: 60 cases, female: 22 cases), the positive rate was 3.1% (82/2 655). There were 66 cases of hydronephrosis, 6 cases of duplicate kidney, 2 cases of multiple renal cysts, 2 cases of renal cystic dysplasia, 1 case of medullary sponge kidney, 3 cases of small kidney, 1 case of isolated kidney, and 1 case of horseshoe kidney. (2)Of the 66 children with hydronephrosis, 4 cases were lost to the follow-up; 8 cases were followed for less than six months with no significant changes found, and still in the follow-up observation; 54 cases were followed up for 1 year, among which 32 cases were returned to normal within 1 year, 3 cases were alleviated, 7 cases were aggravated, and 12 cases were unchanged. One case underwent surgery for repeated urinary tract infections and decreased renal function. (3) Abnormal fetal urinary ultrasound in the late pregnancy was found to be the most common in the high risk factors of CAKUT. There were 44 high-risk newborns with abnormal fetal urinary ultrasound, and 35 cases of CAKUT were diagnosed after birth. The incidence rate was 79.5%(35/44). (4)Among the 2 655 newborns screened, 2 611 newborns had normal antenatal urinary ultrasonography. Among these neonates with normal urinary ultrasound during pregnancy,47 cases of CAKUT were diagnosed after birth, with an incidence of 1.8% (47/2 611). CONCLUSION: The most common CAKUT in neonates is hydronephrosis and most cases with hydronephrosis had a good prognosis, but they should be followed up regularly. Urinary ultrasound screening for neonates, especially those high-risk neonates with abnormal fetal urinary ultrasound, has important clinical implications for the early detection of CAKUT.

[Clinical outcomes of hematopoietic stem cell transplantation for angioimmunoblastic T-cell lymphoma].

Objective: To evaluate clinical outcomes of autologous (auto-HSCT) and allogeneic hematopoietic stem cell transplantation (allo-HSCT) for angioimmunoblastic T-cell lymphoma (AITL) . Methods: From June 2007 to June 2017, clinical data of AITL patients who underwent HSCT in eight hospitals were assessed retrospectively. Results: Of 19 patients, 13 male and 6 female with a median age of 50 (32-60) years old, 12 auto-HSCT and 7 allo-HSCT recipients were enrolled in this study, all donors were HLA-identical siblings. Two of allo-HSCT recipients were relapsed auto-HSCT ones. There were 5 patients (5/12) in complete response (CR) status and 7 (7/12) in partial remission (PR) status before transplantation in auto-HSCT group, and 2 (2/7) in PR status and 3 (3/7) in progression disease (PD) status before transplantation in allo-HSCT group. The median follow-up for the surviving patients was 46.5 months (range, 1-100 months) for the whole series, two patients lost in auto-HSCT group. Three patients developed acute graft-versus-host disease (aGVHD) and 5 chronic graft-versus-host disease (cGVHD) after allo-HSCT. Three patients died of primary disease and 1bleeding in auto-HSCT group. One patient died of primary disease and 2 transplantation-related mortality in allo-HSCT group. The 3-year cumulative overall survival (OS) were 56% (95%CI 32%-100%) and 57% (95%CI 30%-100%) for auto-HSCT and allo-HSCT, respectively (P=0.979) . The 3-year cumulative progression-free survival (PFS) were 34% (95%CI 14%-85%) and 57% (95%CI 30%-100%) for auto-HSCT and allo-HSCT, respectively (P=0.451) . Conclusion: Both auto-HSCT and allo-HSCT were optimal choices for AITL. In clinical practice, which HSCT was better for AITL patients should be based on comprehensive factors including sensitivity to chemotherapy, risk stratification and disease status at transplantation.

Reemergence of high-Tc superconductivity in the (Li1-xFe x )OHFe1-ySe under high pressure.

In order to elucidate pressure-induced second superconducting phase (SC-II) in A x Fe2-ySe2 (A = K, Rb, Cs, and Tl) having an intrinsic phase separation, we perform a detailed high-pressure magnetotransport study on the isoelectronic, phase-pure (Li1-xFe x )OHFe1-ySe single crystals. Here we show that its ambient-pressure superconducting phase (SC-I) with a critical temperature Tc ≈ 40 K is suppressed gradually to below 2 K and an SC-II phase emerges above Pc ≈ 5 GPa with Tc increasing progressively to above 50 K up to 12.5 GPa. Our high-precision resistivity data uncover a sharp transition of the normal state from Fermi liquid for SC-I to non-Fermi liquid for SC-II phase. In addition, the reemergence of high-Tc SC-II is found to accompany with a concurrent enhancement of electron carrier density. Without structural transition below 10 GPa, the observed SC-II with enhanced carrier density should be ascribed to an electronic origin presumably associated with pressure-induced Fermi surface reconstruction.

Efficient biosynthesis of d-ribose using a novel co-feeding strategy in Bacillus subtilis without acid formation.

Normally, low d-ribose production was identified as responsible for plenty of acid formation by Bacillus subtilis due to its carbon overflow. An approach of co-feeding glucose and sodium citrate is developed here and had been proved to be useful in d-ribose production. This strategy is critical because it affects the cell concentration, the productivity of d-ribose and, especially, the formation of by-products such as acetoin, lactate and acetate. d-ribose production was increased by 59·6% from 71·06 to 113·41 g l-1 without acid formation by co-feeding 2·22 g l-1  h-1 glucose and 0·036 g l-1  h-1 sodium citrate to a 60 g l-1 glucose reaction system. Actually, the cell density was also enhanced from 11·51 to 13·84 g l-1 . These parameters revealed the importance of optimization and modelling of the d-ribose production process. Not only could zero acid formation was achieved over a wide range of co-feeding rate by reducing glycolytic flux drastically but also the cell density and d-ribose yield were elevated by increasing the hexose monophosphate pathway flux. SIGNIFICANCE AND IMPACT OF THE STUDY: Bacillus subtilis usually produce d-ribose accompanied by plenty of organic acids when glucose is used as a carbon source, which is considered to be a consequence of mismatched glycolytic and tricarboxylic acid cycle capacities. This is the first study to provide high-efficiency biosynthesis of d-ribose without organic acid formation in B. subtilis, which would be lower than the cost of separation and purification. The strain transketolase-deficient B. subtilis CGMCC 3720 can be potentially applied to the production of d-ribose in industry.

[Reliability and validity of Parkinson's disease sleep scale-Chinese version in the south west of China].

Objective: To evaluate the reliability and validity of Parkinson's disease sleep scale-Chinese version (CPDSS) through a study of a large PD population in southwest China, and to explore the prevalence and characteristics of sleep disorders in Parkinson's disease (PD) patients from southwest China. Methods: A total of 544 PD patients and 220 control subjects were enrolled in our study. Demographic data, CPDSS, ESS, PDQ39, HAMD and H-Y stage were assessed in all subjects. Statistical description, Cronbach's alpha coefficient, intra-class correlation coefficient (ICC), Spearman rank correlation coefficient and Mann-Whitney U test were used for statistical analyses. Result: The Cronbach's alpha coefficient for CPDSS was 0.79, ICC of the total scale was 0.94 and ICC of each item ranged from 0.73 to 0.97. The factor analysis yielded a five-factor solution, which explained 63.4% of the total variance. Total and each item scores of CPDSS in PD patients were lower than those in healthy controls. 69.3% of PD patients had sleep disorder, while prevalence in the control group was only 29.6%. Negative correlation was found between CPDSS and ESS. Daytime sleepiness was the most common factor (35.9%) leading to sleep disorders. The sleep disorders of PD patients in Southwest China were significantly related with the course of disease, the severity of disease, the quality of life, depression, cognitive level and motor symptoms. Conclusion: CPDSS has good feasibility, reliability and validity in PD population from southwest China. CPDSS is considered as an effective tool for the assessment of sleep disorder in PD patients.

[Study of the effects of three luteal phase supporting strategies on clinical outcomes of intrauterine insemination].

OBJECTIVE: To explore the effects of three luteal phase supporting strategies on clinical outcomes of intrauterine insemination (IUI). METHODS: 1 779 subjects who underwent IUI at the Center of Reproductive Medicine, Peking University Third Hospital from November 2014 to June 2015 were enrolled in this retrospectively study.According to the luteal phase supporting strategies, all the subjects were divided into three groups: subjects receiving Dydrogesterone were group A; subjects receiving oral micronized progesterone were group B; subjects receiving vaginal micronized progesterone were group C. The pregnancy outcomes, including clinical pregnancy rate, early miscarriage rate, biochemical pregnancy rate and ectopic pregnancy rate were compared in the three groups. RESULTS: There was no significant difference in the three groups in constituent ratio, average IUI times, rate of the natural cycle, rate ofovulation cycle and dropout rate(P>0.05). Similarly, there was also no significant difference in pregnancy outcomes in all groups.Subsequent stratified analysis demonstrated that pregnancy outcomes in subjects of natural cycle and ovulation cycle still showed no significant difference(P>0.05). CONCLUSION: Our study suggested that the effects of three luteal phase supporting strategies on clinical outcomes of IUI were similar.The medication in clinic should be individualized.

Identification of copy number variation in the gene for autosomal dominant optic atrophy, OPA1, in a Chinese pedigree.

Autosomal dominant optic atrophy (ADOA) is an optic neuropathy characterized by bilateral optic nerve pallor and decreased visual acuity. It has been reported to be associated with two genes, OPA1, OPA3, and the OPA4, OPA5, and OPA8 loci. However, mutations in OPA1 constitute the most prevalent cause of ADOA. The purpose of this study was to identify the underlying genetic defect in a Chinese pedigree with ADOA. DNA from six members of a Chinese pedigree was collected for testing genomic and copy number variation (CNV) by targeted region capture and next generation sequencing (targeted NGS). A new developmental CNV detection method was applied to analyze the sequence data. Further verification of CNV was performed by real-time polymerase chain reaction (PCR). Three members of the pedigree with clinically diagnosed ADOA were screened for pathogenic genes related to ophthalmic genetic disease. No eligible pathogenic point mutations associated with ADOA disease-causing genes were found in pedigree members with ADOA. Upon further analysis for CNVs, we found a heterozygous deletion in exons 1-9 of OPA1, which was confirmed by real-time PCR. In this study we used a new developmental method to detect CNVs associated with ADOA in a Chinese pedigree. To our knowledge, this is the first case of ADOA caused by a CNV of the OPA1 gene in Chinese patients. The findings suggest that CNVs might be an important mutation type in Chinese patients with ADOA, and that CNV screening should be performed when point mutation screens are negative in these patients.

Study on the treatment of the p15 gene combined with Bcr-abl-specific siRNA and STI571 for chronic myeloid leukemia.

The aim of this study was to investigate the effect of the p15 gene combined with Bcr-abl-specific siRNA and STI571 on the proliferation, cell cycle and apoptosis of K562 chronic myeloid leukemia cells. Using the gene sequence results, we amplified the p15 gene from normal peripheral blood by RT-PCR, and constructed a p15-pcDNA3.1 vector. The K562 cell line with G418 resistance was screened, synthesized and transfected for bcr-abl gene fusion point for 21-nt siRNA. In p15-pcDNA3.1-K562 cells, the growth rate was slower than that of the control K562 cells, G0/G1-phase was increased and S-phase was decreased significantly. In the siRNA group, bcr-abl fusion gene expression was significantly decreased in K562 cells accompanied by the downregulation of BCL-xL protein expression and G1-phase arrest. Cell survival rate was significantly decreased compared with the sole p15-K562 cell group and the sole RNA interference-K562 cell group. In the combination of p15-pcDNA3.1-K562 cells with STI571, the proportion of apoptosis was significantly increased and the cell survival rate was significantly decreased compared with the p15-K562 cell group and STI571-K562 cell group. siRNA at 30 pM combined with 0.5 µM STI571 promoted apoptosis compared with sole application. The p15 gene combined with siRNA had a synergistic effect on the inhibition of proliferation and the induction of apoptosis in K562 cells. Exogenous p15 protein expression combined with STI571 appeared to have a synergistic effect on proliferation inhibition and apoptosis induction in K562 cells. The combination of low-dose RNA interference with STI571 showed a synergistic effect in inducing apoptosis.

MTHFR C677T variant reduces risk of sporadic Parkinson's disease in ethnic Chinese.

BACKGROUND: Genetic variability of methylenetetrahydrofolate reductase (MTHFR) may be associated with Parkinson's disease (PD). Its role in ethnic Chinese population is still unclear. Our study aimed to investigate whether MTHFR C677T variation was linked to PD risk in a Han Chinese population from mainland China. METHODS: To investigate the association with the risk of PD, we analyzed the single-nucleotide polymorphism C677T in MTHFR gene using a case-control methodology. A total of 1482 subjects included 765 patients with idiopathic PD, and 717 age- and sex-matched controls were recruited in this study. RESULTS: The T allele of MTHFR C677T was associated with a decreased risk of PD (OR = 0.80, 95% CI: 0.688-0.926, P = 0.003). Patients with CT + TT genotypes have a decreased risk of PD compared with those with CC genotypes (OR = 0.66, 95%CI: 0.532-0.813, P = 0.000). CT + TT subjects cannot be differentiated from CC subjects based on their clinical features. CONCLUSION: We showed that the C677T polymorphism in MTHFR gene was associated with decreased PD susceptibility in a Han Chinese population from mainland China. Efforts to fully elucidate the pathophysiologic role of the variant in PD should be necessary.

Remarks on the validity of Myxobolus ampullicapsulatus and Myxobolus honghuensis (Myxozoa: Myxosporea) based on SSU rDNA sequences.

In the present study, we isolated three populations of Myxobolus ampullicapsulatus from the gills of crucian carp, Carassius auratus auratus, two from Yongchuan, Chongqing area and one from Poyang Lake, Jiangxi area, China, sequenced their complete small subunit ribosome RNA gene, analyzed their genetic distance and gene similarity, and explored their relationship based on Bayesian inference and maximum likelihood analyses of their small subunit ribosomal DNA. The results combined with their morphological characteristics suggest that M. ampullicapsulatus infecting the gills and pharynx of allogynogenetic gibel carp, Carassius auratus gibelio, should be Myxobolus honghuensis. This study highlights the importance of DNA sequence comparisons for distinguishing Myxobolus species and indicates that the intra-species identification for the two Myxobolus species mentioned in the present research should be less than ten variation sites. In morphology, M. honghuensis Liu et al. (2012) parasitic on the gills of C. auratus auratus (goldfish) was collected from Chongqing area, and its mature spore was 16.5-19.5 × 8.5-10.0 µm in size, polar capsule was 7.0-10.0 × 2.5-4.0 µm in size, and polar filament had 9-10 coils. M. honghuensis Liu et al. (2012) isolated from the pharynx of C. auratus gibelio was sampled in Hubei area, and its mature spore was 15.1-19.5 × 9.0-11.3 µm in size, polar capsule was 7.9-8.1 × 3.0-4.5 µm in size, and polar filament had 7-8 coils.

MCCC1/LAMP3 reduces risk of sporadic Parkinson's disease in Han Chinese.

BACKGROUND: A recent large-scale replication and heterogeneity study reported the new described GWAS locus (MCCC1/LAMP3 rs11711441) was associated with a reduced risk of Parkinson disease (PD) in Asian and Caucasian populations. Its role is still unknown in a Han Chinese population from mainland China. We genotyped the rs11711441 variant to investigate the association with risk of PD. METHODS: Using a case-control methodology, a total of 1428 Han Chinese study subjects were genotyped. We also conducted further stratified analysis according to age at onset and compared the clinical characteristics of GA + AA subjects with GG subjects. RESULTS: In this study, we confirmed that the A allele of MCCC1/LAMP3 (rs11711441) polymorphism reduces the risk to develop sporadic PD (P = 0.043). Additionally, subjects with GA + AA genotypes have a reduced risk compared to those with GG genotype (P = 0.022). The association was seen among the older age group (P = 0.014), but was not significant among the younger age group (P = 0.641). No significant differences were observed in gender, age at onset, and onset symptoms between GA + AA subjects and GG subjects. CONCLUSION: Our study, the first from Mainland China demonstrates that MCCC1/LAMP3 (rs11711441) is associated with a lower risk of PD. Further studies in additional Chinese populations and other cohorts will be useful.