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1.
Zhonghua Yu Fang Yi Xue Za Zhi ; 54(8): 888-891, 2020 Aug 06.
Artigo em Zh | MEDLINE | ID: mdl-32842319

RESUMO

From June 2017 to June 2018, female sanitation workers engaged in road cleaning in a district of Urumqi City, as well as government and logistics women participating in national health examination in the same community were recruited as particulate matter 2.5 (PM2.5) exposure group and control group respectively. The contents of follicle stimulating hormone (FSH) and luteinizing hormone (LH) in the PM2.5 exposed group were lower than those in the control group (all P values < 0.05). Further analysis showed that the content of FSH in the exposure group at the age of 35-39, 40-44 and 45-49 years old was lower than that of the control group (all P values < 0.05). The content of LH in the exposed group at the age of 35-39 and 45-49 years old was lower than that of the control group (all P values < 0.05). The content of FSH in the exposed group with the length of service less than 5, about 5-9 and more than 10 years was lower than that of the control group (all P values < 0.05). The content of LH in the exposed group with the length of service about 5-9 and more than 10 year was lower than that of the control group (all P values < 0.05).


Assuntos
Hormônio Luteinizante , Saneamento , Feminino , Hormônio Foliculoestimulante , Hormônios Esteroides Gonadais , Humanos , Material Particulado
2.
Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi ; 38(10): 753-756, 2020 Oct 20.
Artigo em Zh | MEDLINE | ID: mdl-33142379

RESUMO

Objective: To understand the mental health status of female workers in different industries in China, and to explore the influence of age, family per capita income, working hours and other factors on the mental health of female employees. Methods: From May to July 2016, a cluster sampling survey was conducted among female workers from 15 Provinces (autonomous regions and municipalities directly under the Central Government) in different industries. A total of 60230 questionnaires were distributed and 57777 valid questionnaires were recovered, with an effective rate of 95.9%. The survey included the basic information and Symptom Self-assessment Scale, etc. The measured data were in accordance with the normal distribution by normality test and were expressed as x±s. The rates of counting data were compared using the χ(2) test. And unconditioned logistic regression was used to analyze the influencing factors. Results: There were significant differences in the detection rates of mental health problems among female employees of different ages, marital status, education level, family per capita income, industry classification, working hours, and frequent night shifts (P<0.01) . The top 3 factors of positive mental health problems were obsessive-compulsive symptoms (23.7%) , depression (16.0%) and interpersonal sensitivity (15.4%) . The factors such as age, education level, family per capita income, industry classification, working hours and frequent night shifts had statistical significances on the risk of female employees' mental health problems (P<0.05) . Female employees aged 30-39, aged 40-49, with high school education to junior college, bachelor degree or above, engaged in tertiary industry, working time of 8-9 h/d, working time of 9-11 h/d, working time of more than 11 h/d and regular night shifts had higher risk of mental health problems (OR=1.199, 1.187, 1.296, 1.539, 1.236, 1.674, 1.601, 1.358, 1.393, P<0.05) . Conclusion: The mental health problems of female workers are still serious, we should pay attention to the illegal long-term work and night-shift work, and take effective health promotion measures to effectively improve the mental health level of female workers.


Assuntos
Saúde Mental , Jornada de Trabalho em Turnos , Adulto , China/epidemiologia , Feminino , Nível de Saúde , Humanos , Inquéritos e Questionários
3.
Zhonghua Yi Xue Za Zhi ; 99(23): 1800-1804, 2019 Jun 18.
Artigo em Zh | MEDLINE | ID: mdl-31207691

RESUMO

Objective: To investigate the clinical characterization, treatment and prognosis of anti-GQ1b antibody syndrome. Methods: The clinical data of 8 patients with positive serum anti-GQ1b antibody from the Department of Neurology of Nanjing Brain Hospital between June 2016 and July 2018 were analyzed retrospectively. Their serums were tested by immunoblotting. Relevant literatures were reviewed to investigate possible pathogenesis. Results: Of the 8 cases, 4 cases were male, 4 cases were female; their age ranged from 16 to 76 (47±21) years old. Seven of them were with acute onset, the time course of the disease ranged from 2 to 15 (7±4) days. Six cases had a history of influenza prior to the onset of the presenting symptoms. In terms of the clinical manifestations of the eight patients, two were affected with Guillain-Barre syndrome (GBS), two with Cavernous sinus syndrome, one with Miller Fisher syndrome, one with both GBS and spinal cord demyelination, one with Bulbar paralysis, and one with chronic inflammatory demyelinating polyneuropathy (CIDP). The anti-GQ1b antibody IgG in serum was positive in 6 patients, two of whom were combined with positive IgG of anti-GD1b antibody in serum. The anti-GQ1b antibody IgM in serum was positive in 1 patient, and the anti-GQ1b antibody IgM and anti-GT1b antibody IgM in cerebrospinal fluid (CSF) were both positive in the other patient. In terms of the treatment, 3 patients (3/8) received vitamin B treatment only, 2 patients (2/8) received steroid plus vitamin B treatment, 2 patients (2/8) received intravenous immunoglobulin (IVIG) plus vitamin B treatment, and 1 patient (1/8) received steroid plus IVIG treatment. During the 8-33 months' follow-up after discharge, 6 patients were significantly improved in their symptoms, one with mild diplopia, one with limbs weakness, numbness and difficulty in walking. The symptoms of one patient (case 3) fluctuated twice and recovered again after treatment. Conclusions: The disease spectrum of anti-GQ1b antibodies syndrome is broad, and main symptom is ophtalmoplegia. Immunotherapy with IVIG and steroid would be beneficial to prognosis.


Assuntos
Síndrome de Guillain-Barré , Síndrome de Miller Fisher , Adolescente , Adulto , Idoso , Autoanticorpos , Feminino , Gangliosídeos , Humanos , Imunoglobulina M , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Adulto Jovem
4.
Osteoporos Int ; 29(11): 2505-2515, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30022253

RESUMO

We investigated the association of clinical variables with TBS at baseline in the bone health sub-cohort of the VITamin D and OmegA-3 TriaL (VITAL). Lower TBS was associated with female sex, aging, BMI ≥ 25 kg/m2, SSRI use, high alcohol intake, and presence of diabetes; there was a trend towards significance between lower TBS and history of fragility fractures. INTRODUCTION: We investigated whether TBS differs by sex, race, body mass index (BMI), and other clinical variables. METHODS: The VITamin D and OmegA-3 TriaL (VITAL) is determining effects of vitamin D3 and/or omega-3 fatty acid (FA) supplements in reducing risks of cancer and cardiovascular disease. In the VITAL: Effects on Bone Structure/Architecture ancillary study, effects of these interventions on bone will be investigated. Here, we examine the associations of clinical risk factors with TBS assessments at baseline in the bone health sub-cohort, comprised of 672 participants (369 men and 303 women), mean (± SD) age 63.5 ± 6.0 years; BMI ≤ 37 kg/m2, no bisphosphonates within 2 years or other bone active medications within 1 year. RESULTS: TBS was greater in men than women (1.311 vs. 1.278, P < 0.001) and lower with elevated BMIs (P < 0.001), higher age (P = 0.004), diabetes (P = 0.008), SSRI use (P = 0.044), and high alcohol intake (P = 0.009). There was a trend for history of fragility fractures (P = 0.072), and lower TBS. TBS did not vary when analyzed by race, smoking, history of falls, and multivitamin or caffeine use. CONCLUSIONS: Lower TBS was associated with female sex, aging, BMI ≥ 25 kg/m2, SSRI use, alcohol use, and presence of diabetes; there was a trend between lower TBS and history of fragility fractures. TBS may be useful clinically to assess structural changes that may be associated with fractures among patients who are overweight or obese, those on SSRIs, or with diabetes. Ongoing follow-up studies will clarify the effects of supplemental vitamin D3 and/or FA's on TBS and other bone health measures. TRIAL REGISTRATION: NCT01747447.


Assuntos
Densidade Óssea/efeitos dos fármacos , Osso Esponjoso/efeitos dos fármacos , Colecalciferol/farmacologia , Suplementos Nutricionais , Ácidos Graxos Ômega-3/farmacologia , Absorciometria de Fóton/métodos , Idoso , Idoso de 80 Anos ou mais , Envelhecimento/fisiologia , Densidade Óssea/fisiologia , Osso Esponjoso/fisiopatologia , Método Duplo-Cego , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Inibidores Seletivos de Recaptação de Serotonina/farmacologia , Fatores Sexuais
5.
Zhonghua Yu Fang Yi Xue Za Zhi ; 52(2): 134-140, 2018 Feb 06.
Artigo em Zh | MEDLINE | ID: mdl-29429266

RESUMO

Objective: To investigate the infertility rate and influencing factors of female workers in China's nine industries. Methods: Using multi-stage sampling method, from January to November in 2016. A cross-sectional survey was conducted on the infertility of 33 685 female workers in the nine industries including medical and health, petrochemical, metallurgy, railway, machinery manufacturing and electronics,a questionnaire survey. First, three provincial capitals were randomly selected in seven regions. And then we consulted and communicated with the hospital of the provincial city's occupational disease prevention and treatment, marking and coding the target enterprise within its jurisdiction, In these enterprises, we randomly selected five companies. Finally, all women workers who meet the inclusion criteria were surveyed in those enterprises which were drawn. Use the"female workers reproductive health questionnaire" to collect female workers demographic status, occupational status and reproductive status and other data. The single factor analysis of infertility was performed by chi-square test. Multivariate analysis of infertility was carried out by logistic regression model. Results: The age of female workers in the nine industries was (35.98±7.98) years. The infertility rate for one year of female workers in typical industry was 24.81% (8 358/33 685), the infertility rate for two years being13.47% (4 537/33 685), the infertility rate for two years being 10.78% (3 632/33 685). Compared to the east China region, the infertility rate was the highest in the south region (OR=1.90, 95%CI: 1.66-2.17). Compared to non-working women, the infertility rate was the highest among railroad (OR=1.68, 95%CI: 1.43-1.98) and financial industries (OR=1.64, 95%CI: 1.38-1.95). Occupational exposure to heavy metals (OR=1.15, 95%CI:1.04-1.27) and occupational exposure to hazardous physical factors (OR=1.09, 95%CI:1.01-1.17) were infertility risk factors. Conclusion: The infertility rate of female workers in the nineindustries was high. And the region, industry, occupational exposure to heavy metals and occupational exposure to hazardous physical factors, were independent risk factors for infertility.


Assuntos
Infertilidade/epidemiologia , Doenças Profissionais , Exposição Ocupacional , Adulto , China , Estudos Transversais , Feminino , Hospitais , Humanos , Modelos Logísticos , Metalurgia , Saúde Ocupacional , Saúde Reprodutiva , Fatores de Risco , Inquéritos e Questionários
6.
Fa Yi Xue Za Zhi ; 34(4): 396-400, 2018 Aug.
Artigo em Inglês, Zh | MEDLINE | ID: mdl-30465406

RESUMO

OBJECTIVES: To observe and analyse the Amelogenin allelic loss in parent-child identification cases, and to explore the type and mechanism of Amelogenin allelic loss as well as its influence on gender identification and solutions. METHODS: After the detection by SiFaSTR™ 23plex DNA identification system, samples had the characteristics of the peak area of Amelogenin X was the same as the one of adjacent heterozygote or lower than one half of adjacent homozygote in females while Amelogenin X loss was observed in males were selected. X chromosome STR (X-STR) typing and Amelogenin X sequencing were performed. The samples with Amelogenin Y loss in males were confirmed by the detection of Y chromosome STR typing and sex-determining region of Y (SRY). The type and rate of Amelogenin allelic loss were confirmed and calculated, and the mechanism and influence of this variation were also analysed. RESULTS: Amelogenin X allelic loss was observed in one male sample, the mutation in primer-binding region was confirmed by sequencing. The suspected Amelogenin X allelic loss was observed in four female samples, but the mutation in primer-binding region was confirmed by sequencing in only one sample. Amelogenin Y allelic loss was observed in seven male samples, SRY positive cases was detected in five of them, and two were SRY negative. Y-STR type was detected in four cases of the five SRY positive cases, which was not detected in the two SRY negative cases. The rate of Amelogenin allelic loss was about 0.029%. CONCLUSIONS: Amelogenin X allelic loss does not affect the gender identification, but Amelogenin Y allelic loss may cause wrong gender identification. Thus, Y-STR or SRY should be detected for gender confirmation. When Y-STR genotypes are not detected in a "male" whose SRY detection is also negative, then the chromosome karyotype analysis and sex differentiation related genes test should be taken to further confirm the gender.


Assuntos
Amelogenina/genética , DNA/genética , Perda de Heterozigosidade/genética , Feminino , Humanos , Masculino , Análise para Determinação do Sexo
7.
Artigo em Zh | MEDLINE | ID: mdl-29699013

RESUMO

Objective: To investigate the distribution of shift work of female workers in different industries and the relationship between shift work and reproductive health, then provide reference for the female workers' labor protection. Methods: From June to September 2016, cluster sampling questionnaire survey was performed among female workers from 11 industries including electronics, medicine and health, pharmacy. To investigate the general information, shift-work information, reproductive health and childbearing history of these female workers. Results: A total of 63 711 usable questionnaires were collected, resulting in a response rate of 96.94%.A total of 13 546 workers worked in shifts, accounting for 21.26%, the highest proportion was in the medical industry 30.61%, metallurgy 30.81%, petrochemical engineerin 26.78% respectively. Compared with the workers who did not work in shifts, those who worked in shifts had significantly higher rate of abnormal menstruation, rate of reproductive system infection in married workers, the rate of infertility (χ(2)=19.108、10.673、21.510, P<0.05) ; Compared with the workers who did not work in nightshifts, those who worked in nightshifts had significantly higher rate of abnormal menstruation, rate of reproductive system infection among married workers and rate of infertility (χ(2)=140.043、71.901、29.024, P<0.01) . Conclusion: The highest rate of shift work was in the medical industry, metallurgy, petrochemical engineering industry. Workers who worked in shifts have serious reproductive health issues, the occurrence of abnormal menstruation, reproductive system infection and infertility may associated with shift work.


Assuntos
Indústrias , Ciclo Menstrual/fisiologia , Ocupações , Saúde Reprodutiva , Mulheres Trabalhadoras , Tolerância ao Trabalho Programado , Adulto , China , Feminino , Humanos , Metalurgia , Saúde Ocupacional , Inquéritos e Questionários , Local de Trabalho
8.
Fa Yi Xue Za Zhi ; 33(3): 263-266, 2017 Jun.
Artigo em Zh | MEDLINE | ID: mdl-29230991

RESUMO

OBJECTIVES: To observe and analyze the confirmed cases of paternity testing, and to explore the mutation rules of STR loci. METHODS: The mutant STR loci were screened from 20 723 confirmed cases of paternity testing by Goldeneye 20A system.The mutation rates, and the sources, fragment length, steps and increased or decreased repeat sequences of mutant alleles were counted for the analysis of the characteristics of mutation-related factors. RESULTS: A total of 548 mutations were found on 19 STR loci, and 557 mutation events were observed. The loci mutation rate was 0.07‰-2.23‰. The ratio of paternal to maternal mutant events was 3.06:1. One step mutation was the main mutation, and the number of the increased repeat sequences was almost the same as the decreased repeat sequences. The repeat sequences were more likely to decrease in two steps mutation and above. Mutation mainly occurred in the medium allele, and the number of the increased repeat sequences was almost the same as the decreased repeat sequences. In long allele mutations, the decreased repeat sequences were significantly more than the increased repeat sequences. The number of the increased repeat sequences was almost the same as the decreased repeat sequences in paternal mutation, while the decreased repeat sequences were more than the increased in maternal mutation. CONCLUSIONS: There are significant differences in the mutation rate of each locus. When one or two loci do not conform to the genetic law, other detection system should be added, and PI value should be calculated combined with the information of the mutate STR loci in order to further clarify the identification opinions.


Assuntos
Análise Mutacional de DNA/métodos , Loci Gênicos , Repetições de Microssatélites , Mutação , Paternidade , Alelos , Família , Humanos , Masculino , Taxa de Mutação
9.
Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi ; 34(12): 924-927, 2016 Dec 20.
Artigo em Zh | MEDLINE | ID: mdl-28241682

RESUMO

Objective: To investigate the reproductive health status in female staff, and to develop labor protection strategies for female staff. Methods: From May to November, 2015, cluster sampling was performed in the industries of medicine and health, petrochemical engineering, metallurgy, railway, mechanical manufacturing, and electronics in seven provinces (municipalities directly under the Central Government and autonomous regions) . A questionnaire surveywas performed for female staff, and the investigation covered general information, occupational history andexposure to occupational hazards, and reproductive health and childbearing history. Results: A total of 14 614 usable questionnaires were collected, resulting in a response rate of 96.00%. The meanage of all female staff was 36 years. Of all female staff, 80.06% were married and 40.84% were exposed to hazardous factors; 28.14% had abnormal menstruation, and the female staff in theelectronics and railway industries had higher rates of abnormal menstruation (32.28% and 32.11%, respectively) . The overall rate of abnormal gynecological examination results was 18.29%, and the female staff in therailway industry had the highest rate (29.49%) . Of all female staff, 49.01% reported gynecological diseases in the past, among which hyperplasia of mammary glands accounted for 27.11% and inflammation in the reproductive system accounted for 36.31%. The medical staff had higher rates of abnormal menstruation (33.11%) and abnormal gynecological examination results (27.46%) compared with the staff engaged in other occupations. With normal sexual life and no contraceptive measures, the 1-, 2-, and 3-year infertility rates were 24.26%, 11.88%, and 8.88%, respectively. Conclusion: The female staff in the industries of medicine and health, railway, and electronics have serious reproductive health issues. Labor protection should be enhanced and working environment should be improved.


Assuntos
Indústrias , Saúde Ocupacional , Saúde Reprodutiva , Adulto , China , Feminino , Humanos , Ocupações , Inquéritos e Questionários , Local de Trabalho
10.
Nat Genet ; 20(2): 180-3, 1998 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-9771712

RESUMO

Holoprosencephaly (HPE) is the most common structural anomaly of the human brain and is one of the anomalies seen in patients with deletions and duplications of chromosome 13. On the basis of molecular analysis of a series of patients with hemizygous deletions of the long arm of chromosome 13, we have defined a discrete region in band 13q32 where deletion leads to major developmental anomalies (the 13q32 deletion syndrome). This approximately 1-Mb region lies between markers D135136 and D13S147. Patients in which this region is deleted usually have major congenital malformations, including brain anomalies such as HPE or exencephaly, and digital anomalies such as absent thumbs. We now report that human ZIC2 maps to this critical deletion region and that heterozygous mutations in ZIC2 are associated with HPE. Haploinsufficiency for ZIC2 is likely to cause the brain malformations seen in 13q deletion patients.


Assuntos
Cromossomos Humanos Par 13 , Proteínas de Drosophila , Holoprosencefalia/genética , Proteínas de Homeodomínio/genética , Mutação , Fatores de Transcrição/genética , Dedos de Zinco/genética , Sequência de Aminoácidos , Animais , Sequência de Bases , Drosophila , Éxons , Feminino , Mutação da Fase de Leitura , Biblioteca Gênica , Humanos , Lactente , Íntrons , Masculino , Camundongos , Dados de Sequência Molecular , Polimorfismo Conformacional de Fita Simples , Alinhamento de Sequência , Software
11.
Lupus ; 21(8): 855-64, 2012 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-22433915

RESUMO

Cross-sectional studies have shown that low vitamin D (25-hydroxyvitamin D (25(OH)D)) is associated with increased systemic lupus erythematosus (SLE) activity. This study is the first to assess the temporal relationship between 25(OH)D levels and onset of SLE flare. This assessment was made possible because of the specimen bank and database of the Ohio SLE Study (OSS), a longitudinal study of frequently relapsing SLE that involved regular bimonthly patient follow-up. We identified for this study 82 flares from 46 patients that were separated by at least 8 months from previous flares. Serum 25(OH)D levels were measured at 4 and 2 months before flare, and at the time of flare (a flare interval). We found that for flares occurring during low daylight months (LDM, Oct-Mar), 25(OH)D levels were decreased at the time of flare, but only in non-African American (non-AA) patients (32% decrease at flare, compared to 4 months prior, p < 0.001). To control for seasonal effects, we also measured 25(OH)D levels in the LDM "no-flare" intervals, which were intervals that matched to the same calendar months of the patients' LDM flare intervals, but that didn't end in flare (n = 24). For these matches, a significant decrease occurred in 25(OH)D levels during the flare intervals (18.1% decrease, p < 0.001), but not during the matching no-flare intervals (6.2% decrease, p = 0.411). For flares occurring during high daylight months (HDM), 25(OH)D levels changed only in non-AA patients, increasing slightly (5.6%, p = 0.010). Analysis of flare rates for the entire OSS cohort (n = 201 flares) revealed a tendency for higher flare rates during LDM compared to HDM, but again only in non-AA patients (p = 0.060). Flare rates were lower during HDM for non-AA patients compared to AA patients (p = 0.028). In conclusion, in non-AA SLE patients, unusually large declines in 25(OH)D during LDM may be mechanistically related to SLE flare, whereas relatively high 25(OH)D levels during HDM may protect against flare.


Assuntos
Lúpus Eritematoso Sistêmico/sangue , Índice de Gravidade de Doença , Vitamina D/análogos & derivados , Adulto , Negro ou Afro-Americano , Povo Asiático , Feminino , Humanos , Estudos Longitudinais , Lúpus Eritematoso Sistêmico/etnologia , Lúpus Eritematoso Sistêmico/fisiopatologia , Masculino , Estações do Ano , Luz Solar , Fatores de Tempo , Vitamina D/sangue , População Branca
12.
Eur Rev Med Pharmacol Sci ; 26(23): 8684-8692, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-36524487

RESUMO

OBJECTIVE: Understanding factors for prolonged operative time is essential for surgery. This study aims at identifying the factors related to prolonged ileostomy closure operation time. PATIENTS AND METHODS: The data of 88 patients who underwent ileostomy reversal in the Department of Gastrointestinal Surgery of Jiaxing First Hospital between January 2018 and October 2021 were retrospectively analyzed. Prolonged operation time was defined as operative time >65 minutes. The Chi-square test was used to compare data between patients with normal operative time (≤65 minutes) and patients with prolonged operative time. Univariate and multivariate logistic regression analyses were performed to identify the factors associated with prolonged ileostomy closure operation time. RESULTS: Among the 88 patients (mean age: 62.78 years), median ileostomy retention time was 127.50 (range: 61.00-1,192.00) days. The operation time ranged from 35.00 minutes to 125.00 minutes. Prolonged ileostomy closure time occurred in 41 (46.6%) patients. In univariate analysis, the factors associated with prolonged operation time were body mass index (BMI) ≥25 kg/m2, previous history of abdominal surgery, and manual suture. History of serious complications after the primary operation was associated with shorter operation time. In multivariate analysis, the independent risk factors for prolonged operation time were BMI ≥25 kg/m2 (OR = 4.552, 95% CI: 1.369-15.136, p = 0.013), previous history of abdominal surgery (OR = 4.377, 95% CI: 1.394-13.739, p = 0.011), and manual suture (OR = 3.941, 95% CI: 1.181-13.154, p = 0.026). CONCLUSIONS: Overweight, previous history of abdominal surgery, and manual suture appear to be risk factors for prolonged operative time for ileostomy closure.


Assuntos
Ileostomia , Complicações Pós-Operatórias , Humanos , Pessoa de Meia-Idade , Ileostomia/efeitos adversos , Estudos Retrospectivos , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Fatores de Risco , Anastomose Cirúrgica/efeitos adversos
13.
Lupus ; 20(11): 1126-34, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-21784777

RESUMO

Homozygous deficiencies of early components for complement activation are among the strongest genetic risk factors for human systemic lupus erythematosus (SLE). Eleven cases of C1r deficiency are documented but this is the first report on the molecular basis of C1r deficiency. The proband is an African-American male who developed SLE at 3 months of age. He had a discoid lupus rash and diffuse proliferative glomerulonephritis. Serum complement analysis of the patient showed zero CH50 activity, undetectable C1r, and reduced levels of C1s, but highly elevated levels of complement C4, C2, and C1-inhibitor. The coding regions of the mutant C1R gene with 11 exons located at chromosome 12p13 were polymerase chain reaction (PCR)-amplified and sequenced to completion. DNA sequencing revealed a homozygous C→T mutation at nucleotide-6392 in exon 10 of the C1R gene, resulting in a nonsense mutation from Arg-380 (R380X). The patient's clinically normal mother was heterozygous for this mutation. A sequence-specific primer (SSP) PCR coupled with StuI-restriction fragment length polymorphism (RFLP) was developed to detect the novel mutation. Screening of 209 African-American SLE patients suggested that the R380X mutation is a rare causal variant. Mutations leading to early complement component deficiencies in SLE are mostly private variants with large effects.


Assuntos
Complemento C1r/deficiência , Complemento C1r/genética , Lúpus Eritematoso Sistêmico/sangue , Lúpus Eritematoso Sistêmico/genética , Negro ou Afro-Americano/genética , Sequência de Bases , Códon sem Sentido , Complemento C3/metabolismo , Complemento C4/metabolismo , Análise Mutacional de DNA , Primers do DNA/genética , Feminino , Frequência do Gene , Homozigoto , Humanos , Lactente , Masculino , Polimorfismo de Fragmento de Restrição
14.
Am J Transplant ; 10(5): 1276-83, 2010 May.
Artigo em Inglês | MEDLINE | ID: mdl-20353467

RESUMO

To evaluate the efficacy of stent placement in the treatment of portal vein (PV) stenosis or occlusion in living donor liver transplant (LDLT) recipients, 468 LDLT records were reviewed. Sixteen (10 PV occlusions and 6 stenoses) recipients (age range, 8 months-59 years) were referred for possible interventional angioplasty (dilatation and/or stent) procedures. Stent placement was attempted in all. The approaches used were percutaneous transhepatic (n = 10), percutaneous transsplenic (n = 4), and intraoperative (n = 2). Technical success was achieved in 11 of 16 patients (68.8%). The sizes of the stents used varied from 7 mm to 10 mm in diameter. In the five unsuccessful patients, long-term complete occlusion of the PV with cavernous transformation precluded catherterization. The mean follow-up was 12 months (range, 3-24). The PV stent patency rate was 90.9% (10/11). Rethrombosis and occlusion of the stent and PV occurred in a single recipient who had a cryoperserved vascular graft to reconstruct the PV during the LDLT operation. PV occlusion of >1 year with cavernous transformation seemed to be a factor causing technical failure. In conclusion, early treatment of PV stenosis and occlusion by stenting is an effective treatment in LDLT. Percutaneous transhepatic and transsplenic, and intraoperative techniques are effective approaches depending on the situation.


Assuntos
Transplante de Fígado/efeitos adversos , Transplante de Fígado/métodos , Doadores Vivos , Veia Porta/cirurgia , Adulto , Vasos Sanguíneos , Criança , Pré-Escolar , Constrição Patológica/complicações , Constrição Patológica/diagnóstico por imagem , Constrição Patológica/cirurgia , Endoscopia Gastrointestinal/efeitos adversos , Humanos , Transplante de Fígado/diagnóstico por imagem , Veia Porta/diagnóstico por imagem , Radiografia , Stents/efeitos adversos , Resultado do Tratamento , Doenças Vasculares/complicações , Doenças Vasculares/diagnóstico por imagem , Doenças Vasculares/cirurgia , Veias/cirurgia
15.
Clin Immunol ; 137(1): 166-75, 2010 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-20580617

RESUMO

Homozygous complement C4B deficiency is described in a Southern European young female patient with Membranoproliferative Glomerulonephritis (MPGN) type III characterized by renal biopsies with strong complement C4 and IgG deposits. Low C4 levels were independent of clinical evolution or type of immunosuppression and were found in three other family members without renal disease or infections. HLA typing revealed that the patient has homozygous A*02, Cw*06, B*50 at the class I region, and DRB1*08 and DQB1*03 at the class II region. Genotypic and phenotypic studies demonstrated that the patient has homozygous monomodular RCCX in the HLA class III region, with single long C4A genes coding for C4A3 and complete C4B deficiency. Her father, mother, son and niece have heterozygous C4B deficiency. The patient's deceased brother had a history of Henoch-Schönlein Purpura (HSP), an immune complex-mediated proliferative glomerulonephritis. These findings challenge the putative pathophysiological roles of C4A and C4B and underscore the need to perform functional assays, C4 allotyping and genotyping on patients with persistently low serum levels of a classical pathway complement component and glomerulopathy associated with immune deposits.


Assuntos
Complemento C4b/deficiência , Complemento C4b/genética , Glomerulonefrite Membranoproliferativa/genética , Adulto , Complemento C4a/genética , Complemento C4b/metabolismo , Creatinina/urina , Feminino , Genótipo , Glomerulonefrite Membranoproliferativa/sangue , Glomerulonefrite Membranoproliferativa/tratamento farmacológico , Glomerulonefrite Membranoproliferativa/patologia , Glomerulonefrite Membranoproliferativa/urina , Antígenos HLA/genética , Haplótipos/genética , Heterozigoto , Homozigoto , Humanos , Rim/patologia , Síndrome Nefrótica/sangue , Síndrome Nefrótica/patologia , Síndrome Nefrótica/urina , Linhagem , Polimorfismo de Fragmento de Restrição/genética , Proteinúria/urina , Esteroide 21-Hidroxilase/genética , Tenascina/genética
16.
Lupus ; 19(11): 1272-80, 2010 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-20605879

RESUMO

To assess the relationship between serum C3 or C4 levels and lupus renal flare, C3 and C4 levels were measured bimonthly in 71 lupus nephritis patients for a mean of 35 months, during which time 70 renal flares were identified. Comparing baseline, pre-flare, and at-flare values indicated that neither C3 nor C4 levels decreased pre-flare, but both decreased on average significantly at flare. However, sensitivity/specificity for C3 (75%/71%) and C4 (48%/71%) were low. To account for other influencing factors, multiple regression was performed that included bimonthly values of C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR), and genotype data on C3 (S/F), CRP (1846G > A), and the complement regulator factor H (Y402H). This analysis revealed that reduced levels of C4, but not C3, were independently associated with the two-month pre-flare period. Conversely, reduced levels of C3, but not C4, were independently associated with the flare visit. Significant pro-flare interactions included low C3 levels with the factor H 402HH-encoding genotype, and low CRP levels with the C3 F allele. Together these data suggest that C4 activation is critical for initiating renal flare while C3 activation is involved in the actual tissue damage, and that these effects are influenced by genetic variability in complement activation and regulation.


Assuntos
Biomarcadores , Complemento C3/metabolismo , Complemento C4/metabolismo , Lúpus Eritematoso Sistêmico , Nefrite Lúpica , Biomarcadores/sangue , Humanos , Lúpus Eritematoso Sistêmico/sangue , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/imunologia , Nefrite Lúpica/sangue , Nefrite Lúpica/etiologia , Nefrite Lúpica/imunologia , Valor Preditivo dos Testes , Sensibilidade e Especificidade
17.
Sci Rep ; 10(1): 21758, 2020 12 10.
Artigo em Inglês | MEDLINE | ID: mdl-33303895

RESUMO

This study aimed to develop biodegradable calcium alginate microcarriers with uniform particle size and spherical integrity for sustained-release targeting transarterial chemoembolization. To determine related parameters including the ratio of cross-linking volume (sodium alginate: CaCl2), concentrations of sodium alginate and CaCl2 solutions, collection distance, flow rate, stirring speed, syringe needle diameter and hardening time to fabricate the microcarriers, the Taguchi method was applied. Using different conditions, a total of 18 groups were prepared. The average size of microspheres from different groups was estimated as ~ 2 mm (range 1.1 to 1.6 mm). Signal-to-noise ratio analysis showed the optimal spherical integrity (F1) achieved when the above parameters were designed as 0.1, 2.5 wt%, 6 wt%, 8 cm, 30 mL/h, 150 rpm, 0.25 mm and 2 h, respectively. The best (F1), middle (F2) and worst (F3) groups were used for further experiments. Fourier-transform infrared spectroscopy spectrum showed that F1, F2 and F3 conformations were distinct from original sodium alginate. Drug-loaded calcium alginate microcarriers demonstrated rougher surfaces compared to microspheres without drug under transmission electron microscopy. Compared to pH 7.4, swelling rates in PBS were decreased at pH 6.5. Encapsulation and loaded efficiencies of the Dox-loaded microcarriers were estimated as ~ 40.617% and ~ 3.517%. In vitro experiments indicated that the F1 Dox-loaded microcarriers provide a well sustained-release efficacy for about two weeks at 37 °C in PBS. Treatments of calcium alginate microcarriers without the Dox in two distinct hepatocellular carcinoma-derived cell lines, Huh-7 and Hep-3B, indicated that these microcarriers were non-toxic. The Dox-loaded microcarriers displayed sustained-release capacity and reduced cell viabilities to ~ 30% in both cell lines on Day 12.


Assuntos
Alginatos , Cápsulas , Quimioembolização Terapêutica/métodos , Doxorrubicina/administração & dosagem , Portadores de Fármacos , Microesferas , Alginatos/farmacologia , Carcinoma Hepatocelular/patologia , Carcinoma Hepatocelular/terapia , Linhagem Celular Tumoral , Sobrevivência Celular/efeitos dos fármacos , Preparações de Ação Retardada , Doxorrubicina/farmacologia , Portadores de Fármacos/farmacologia , Humanos , Neoplasias Hepáticas/patologia , Neoplasias Hepáticas/terapia , Tamanho da Partícula
18.
Int J Tuberc Lung Dis ; 24(4): 420-427, 2020 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-32317067

RESUMO

SETTING: Eight tuberculosis treatment sites in Cavite Province, the Philippines, including two sites specialising in management of multidrug-resistant tuberculosis (MDR-TB).OBJECTIVE: To evaluate costs incurred by TB patients and to determine the proportion of households that faced catastrophic costs, then to consider cost survey responses alongside results of detailed patient-pathway modelling.DESIGN: Clustered cross-sectional survey using a field testing version of the WHO TB patient-costing tool and protocol; face-to-face interviews with 194 patients conducted in May-August 2016. Costs included direct-medical, direct non-medical and indirect costs using the human capital approach. Patients were deemed to incur catastrophic expenditure if TB-related costs exceeded 20% of annual household income. Patient pathways were modelled following multiple health staff interviews.RESULTS: Estimated mean cost incurred by patients with drug-susceptible TB was US$321 vs. $2356 for MDR-TB patients. Catastrophic costs were suffered by 28% of drug-susceptible and 80% of MDR-TB patients, with lost income being the largest contributor. Patient-pathway modelling suggested most patients had under-reported health visits.CONCLUSION: Survey results indicate that patient costs are large for all patients in Cavite, particularly for MDR-TB patients. Patient-pathway modelling suggests these costs are an underestimate due to poor recollection of health visits, suggesting that the WHO instrument and protocol could be improved to better capture the diagnostic journey.


Assuntos
Tuberculose Resistente a Múltiplos Medicamentos , Tuberculose , Estudos Transversais , Custos de Cuidados de Saúde , Humanos , Renda , Filipinas/epidemiologia , Tuberculose/diagnóstico , Tuberculose/tratamento farmacológico , Tuberculose/epidemiologia , Tuberculose Resistente a Múltiplos Medicamentos/tratamento farmacológico , Tuberculose Resistente a Múltiplos Medicamentos/epidemiologia
19.
Science ; 369(6502): 427-432, 2020 07 24.
Artigo em Inglês | MEDLINE | ID: mdl-32703875

RESUMO

Alloys that have high strengths at high temperatures are crucial for a variety of important industries including aerospace. Alloys with ordered superlattice structures are attractive for this purpose but generally suffer from poor ductility and rapid grain coarsening. We discovered that nanoscale disordered interfaces can effectively overcome these problems. Interfacial disordering is driven by multielement cosegregation that creates a distinctive nanolayer between adjacent micrometer-scale superlattice grains. This nanolayer acts as a sustainable ductilizing source, which prevents brittle intergranular fractures by enhancing dislocation mobilities. Our superlattice materials have ultrahigh strengths of 1.6 gigapascals with tensile ductilities of 25% at ambient temperature. Simultaneously, we achieved negligible grain coarsening with exceptional softening resistance at elevated temperatures. Designing similar nanolayers may open a pathway for further optimization of alloy properties.

20.
Genes Immun ; 10(5): 433-45, 2009 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-19279649

RESUMO

Complete deficiency of complement C4 is among the strongest genetic risk factors for human systemic lupus erythematosus (SLE). C4 is a constituent of the RP-C4-CYP21-TNX (RCCX) module in the human leukocyte antigen (HLA) that exhibits inter-individual copy-number and gene-size variations. Here, we studied two North-African families with complete C4 deficiency and SLE. The first included a Moroccan male SLE patient (1P) and a sibling, who were both homozygous for HLA-A*02 B*17 DRB1*07. The second had an Algerian female SLE patient (2P) homozygous for HLA-A*01 B*17 DRB1*13. Early SLE disease onset, the presence of photosensitive rashes, anti-Ro/SSA, renal disease and high titers of antinuclear antibodies were the common features of complete C4 deficiency. Southern blot analyses showed that 1P had monomodular RCCX with a long C4A, whereas 2P had bimodular RCCX with one long C4A and one short C4B. Genomic DNA fragments for these mutant genes were amplified and sequenced. A C>T transition that created the R540X nonsense mutation in C4A was found in 1P. An identical 4-bp insertion that generated the Y1537X nonsense mutation was discovered in both C4A and C4B of 2P. The high concordance of SLE and C4 deficiency among patients with non-DR3 and non-DR2 haplotypes underscores the importance of C4 proteins in the protection against SLE.


Assuntos
Complemento C4/deficiência , Lúpus Eritematoso Sistêmico/genética , Lúpus Eritematoso Sistêmico/imunologia , População Negra/genética , Complemento C4/genética , Complemento C4/imunologia , Consanguinidade , Feminino , Antígenos HLA-A/genética , Humanos , Masculino , Linhagem
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