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1.
J Multidiscip Healthc ; 16: 1151-1159, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37131934

RESUMO

Purpose: The purpose of this study is to understand the risk perception, risk emotions and humanistic care needs of nursing staff during the Novel Coronavirus 2019 (Covid-19) pandemic. Methods: A cross-sectional survey was conducted on the perceived risk, risk emotions and humanistic care needs of 35,068 nurses in 18 cities of the Henan Province, China.We collected a total of 35,188 questionnaires, of which 35,068 were effectively returned, with an effective return rate of 99.7%. The collected data were summarized and statistically analyzed using Excel 97 2003 and IBM SPSS software. Results: Nurses' risk perceptions and emotions vary during the covid-19 pandemic. In order to provide nurses with targeted psychological intervention to prevent nurses from suffering from unhealthy mental states.The results show that the total score of the nurses' risk perceptions of Covid-19 was 3.66 ± 0.39, the highest score of nurses' risk perception part is 5 points, and ≥3 points represent high risk and 88.3% of nurses believed that the Covid-19 risk was high. There were significant differences in the nurses' total perceived risk scores for Covid-19 based on gender, age, prior contact with patients with suspected or confirmed Covid-19 and previous participation in other similar public health emergencies (P < 0.050). Of the nurses included in the study, 44.8% had some level of fear relating to Covid-19 and 35.7% were able to remain calm and objective. There were significant differences in the total scores for risk emotions relating to Covid-19 based on gender, age and prior contact with patients with suspected or confirmed Covid-19 (P < 0.050). Of the nurses included in the study, 84.8% were willing to receive humanistic care and 77.6% of these expected to be provided with humanistic care by institutions in the healthcare sector. Conclusion: Nurses with different basic data have different risk cognition and risk emotions. Different psychological needs should be considered, and targeted multi-sectoral psychological intervention services should be provided to help prevent nurses from developing unhealthy psychological states.

2.
J Psychosom Res ; 152: 110690, 2021 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-34896702

RESUMO

OBJECTIVE: This study investigated the association between job burnout and quality of life (QoL) after acute coronary syndrome (ACS) in a Chinese sample. METHODS: This was a one-year longitudinal study. Participants included patients with a first episode of ACS who were still employed. The Copenhagen Burnout Inventory (CBI) assessed job burnout before discharge, and QoL was assessed using the Medical Outcome Study 8-Items Short Form Health Survey (SF-8) and the Seattle Angina Questionnaire (SAQ) before discharge (baseline), at one month, six months and 12 months after discharge. Generalized estimating equations determined the association between job burnout and longitudinal changes of QoL. RESULTS: All participants were assigned to either a "low job burnout" group (n = 70) or a "high job burnout" group (n = 50), based on the upper quartile of job burnout scores. Longitudinally over 1-year follow-up period, the scores of the SF-8 and SAQ among patients with a high level of burnout were lower than those in the low job burnout group. Job burnout was significantly associated with lower physical and mental health (SF-8), as well as greater physical limitation and lower treatment satisfaction (SAQ) over time. CONCLUSION: Job burnout at baseline predicted slow improvement of QoL after ACS in a Chinese working sample.

3.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao ; 43(5): 749-754, 2021 Oct.
Artigo em Chinês | MEDLINE | ID: mdl-34728036

RESUMO

Objective To observe the role of ultrasound biomicroscopy(UBM)in two-year post-operative follow-up for primary open-angle glaucoma patients with modified CO2 laser-assisted sclerectomy surgery(CLASS).Methods This was a case series study.A combination of modified CLASS and preoperative laser iris management was administered to 28 eyes.Visual acuity,intraocular pressure(IOP),and slit-lamp examinations,visual field testing,and gonioscopy were carried out at baseline and until 24 months postoperatively.UBM examination was performed at 1,3,12 and 24 months postoperatively.Results Compared with the mean preoperative IOP [(30.61±10.59)mmHg],the IOP at each time point after operation was significantly lowered [(15.15±5.87),(12.56±3.24),(13.15±2.73),(13.75±2.55)and(13.75±2.46)mmHg at 1,3,6,12 and 24 months,respectively;all P<0.001].Complete success rates and qualified success rates at 12 months and 24 months were 60.71%,89.29% and 53.57%,85.71%,respectively.UBM images can present "dolphin head sign" after successful CLASS.The thickness of trabeculo-Descemet's window was(0.13±0.03)mm,which had no significant correlation with postoperative IOP at 12(r=-0.278,P=0.144)and 24 months(r=0.026,P=0.895).UBM examination revealed a severe scleral lake diminution(a change > 50%)in 1 eye(3.57%)at 12 months and 3 eyes(10.71%)at 24 months.There was no statistical significance detected between the size of the scleral lake and IOP after CLASS.Non-founctional blebs were found in 16 eyes(57.14%)at 12 months and 25 eyes(89.28%)at 24 months.Two eyes(7.14%)demonstrated severe peripheral anterior synechiae at 24 months,requiring surgical intervention.Conclusions UBM can effectively observe the morphology of the scleral lake,anterior chamber angle and filtering blebs in post-operative follow-up after modified CLASS,and give early warning of complications.It plays an important role in ensuring the success of CLASS.


Assuntos
Glaucoma de Ângulo Aberto , Dióxido de Carbono , Seguimentos , Glaucoma de Ângulo Aberto/diagnóstico por imagem , Glaucoma de Ângulo Aberto/cirurgia , Humanos , Microscopia Acústica , Esclera/diagnóstico por imagem , Resultado do Tratamento
4.
Artigo em Inglês | MEDLINE | ID: mdl-33810217

RESUMO

(1) Background: Job burnout may affect the prognosis of patients with acute coronary syndrome (ACS) through mechanisms involving heart rate variability (HRV). However, no study has yet examined those potential associations. Hence, we conducted the present study to investigate this issue. (2) Method: Participants included patients who presented with a first episode of ACS and who were employed. The Copenhagen Burnout Inventory (CBI) was used to assess job burnout. Twenty-four-hour ambulatory electrocardiography recorded HRV on four occasions, i.e., during the hospitalization and follow-ups at one, six, and 12 months, respectively. (3) Results: A total of 120 participants who at least completed three Holter examinations throughout the study were enrolled in the final analysis. Job burnout scores at baseline were inversely associated with LnSDNN, LnTP, LnHF, LnLF, LnULF, and LnVLF during the consequent one-year follow-up. Each 1 SD increase in job burnout scores predicted a decline ranging from 0.10 to 0.47 in the parameters described above (all p < 0.05), and all relationships were independent of numerous confounders, including anxiety and depression. (4) Conclusion: High job burnout predicted reduced HRV parameters during the one-year period post-ACS in the working population.


Assuntos
Síndrome Coronariana Aguda , Esgotamento Profissional , Síndrome Coronariana Aguda/diagnóstico , Síndrome Coronariana Aguda/epidemiologia , Ansiedade , Esgotamento Profissional/epidemiologia , Eletrocardiografia Ambulatorial , Frequência Cardíaca , Humanos , Satisfação no Emprego
5.
Support Care Cancer ; 28(2): 819-826, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31154534

RESUMO

PURPOSE: The purpose of this study was to investigate the physical activity (PA) of colorectal cancer (CRC) survivors during chemotherapy and to explain it based on the theory of planned behavior (TPB). In addition, the effects of planning, past physical activity (P-PA), and self-efficacy on the PA of CRC survivors were analyzed. METHODS: CRC survivors were recruited in a third-grade hospital of Changchun via a convenience sampling method. All survivors were asked to complete self-report questionnaires assessing medical and demographic variables, PA, constructs from the TPB, P-PA, planning, and self-efficacy. RESULTS: A total of 174 CRC survivors were included in this study. Only 7.5% (13) of these CRC survivors had sufficient PA, and 32.2% (56) of CRC survivors were completely sedentary. Gender, education level, working status, residential location, method of payment for medical expenses, and cancer stage were all associated with PA in these patients (P < 0.05). The path model was able to explain 54% (R2 = 0.54) of the PA variance in these CRC survivors. P-PA had the greatest impact on PA during chemotherapy, and P-PA affected PA both directly and indirectly through planning. CONCLUSIONS: Insufficient PA in CRC survivors was associated with a variety of factors, with P-PA having the greatest impact on this outcome. The results of this study suggest that attention must be paid to survivors who had exhibited insufficient PA prior to initial diagnosis.


Assuntos
Sobreviventes de Câncer/psicologia , Neoplasias Colorretais/tratamento farmacológico , Exercício Físico/psicologia , Idoso , Neoplasias Colorretais/mortalidade , Neoplasias Colorretais/patologia , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
6.
Breast Cancer ; 26(2): 198-205, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30259414

RESUMO

BACKGROUND: The adherence to postoperative upper limb functional exercise in breast cancer (BC) patients is poor which can lead to adverse health outcomes. Effective intervention content to improve adherence is still unclear. The information-motivation-behavioral skills (IMB) model is a theoretical model that has been widely used to promote health behavior in many disease populations and may, therefore, help to explain and promote adherence to functional exercise. In this study, we validated the IMB model in a sample of postoperative BC patients. METHODS: A cross-sectional study of 165 postoperative patients with BC was performed in a hospital. We collected information on demographics, functional exercise knowledge (information), personal and social motivation (motivation), objective skills and self-efficacy (behavioral skills), and functional exercise adherence (behavior). Measured variable path analyses were applied for the IMB framework. RESULTS: The IMB elements explained 37.9% of the variance in adherence. As predicted, behavioral skills had a direct effect on adherence (ß = 0.509; P < 0.05) and mediated the effects of knowledge (indirect effect 0.092, P < 0.05) and motivation (indirect effect 0.251, P < 0.05) on adherence. CONCLUSIONS: Behavioral skills have a direct effect on functional exercise adherence and a mediating effect on the influence of knowledge and motivation on adherence. Thus, these factors represent key determinants of exercise adherence. The IMB model could be applied to the upper limb exercise adherence of postoperative BC patients. These findings indicate that the promotion of exercise adherence interventions may benefit from targeting patients' exercise adherence-related knowledge, motivation, and behavioral skills.


Assuntos
Neoplasias da Mama/cirurgia , Exercício Físico/psicologia , Modelos Psicológicos , Cooperação e Adesão ao Tratamento , Extremidade Superior/fisiologia , Adulto , Povo Asiático , Neoplasias da Mama Masculina/cirurgia , Estudos Transversais , Exercício Físico/fisiologia , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Masculino , Pessoa de Meia-Idade , Motivação , Período Pós-Operatório , Autoeficácia , Inquéritos e Questionários
7.
Retina ; 35(3): 582-9, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25170858

RESUMO

PURPOSE: The aim of this study is to characterize the clinical features of four unrelated Chinese patients with retinal dehydrogenase 5 (RDH5) retinopathy (fundus albipunctatus) and to identify the genetic defects underlying this disorder. METHODS: Complete ophthalmic examinations, including slit-lamp biomicroscopy, dilated indirect ophthalmoscopy, spectral domain optical coherence tomography, and full-field electroretinography were performed. Genomic DNA was prepared from peripheral venous leukocytes. Polymerase chain reaction and direct sequencing were used to screen the coding exons and exon/intron boundaries of the RDH5 gene (11-cis-retinol dehydrogenase). RESULTS: Four patients with RDH5 retinopathy, including two 6-year-old boys, from 4 unrelated Chinese families were recruited in this study. A novel c.832C>T (p.Arg278Ter) nonsense mutation of the RDH5 gene was identified in one 6-year-old boy, who has a compound heterozygous mutation with c.928delC/InsGAAG (p.Leu310GluVal). Homozygous Leu310GluVal mutations were identified in 2 male patients including the other 6-year-old boy. The other patient was a 29-year-old woman in whom compound heterozygous changes c.500G>A (p.Arg167His) and Leu310GluVal in RDH5 were identified. All patients manifested the fundus phenotype of fundus albipunctatus. Electroretinograms recorded in 1 boy (Case 3) showed scotopic waveforms within normal range under standard conditions and no change after prolonged dark adaptation. Scotopic waveforms were within the normal range for Case 4 while higher amplitudes (30% increase) were recorded after prolonged dark adaptation. The two adult patients had depressed scotopic electroretinogram responses under standard conditions. Optical coherence tomography showed discrete highly reflective lesions extending from the retinal pigment epithelium to the level of the external limiting membrane. CONCLUSION: A novel c.832C>T (p.Arg278Ter) nonsense mutation in RDH5 was identified. A specific mutation, Leu310GluVal, was seen in the homozygous state in one adult male and one boy and in the heterozygous state in one female adult and one boy with RDH5 retinopathy, suggesting a common mutation. Preserved rod function was observed in one young subject in this study.


Assuntos
Oxirredutases do Álcool/genética , Doenças Retinianas/genética , Células Fotorreceptoras Retinianas Bastonetes/fisiologia , Adulto , Criança , Códon sem Sentido/genética , Eletrorretinografia , Feminino , Humanos , Masculino , Oftalmoscopia , Reação em Cadeia da Polimerase , Doenças Retinianas/diagnóstico , Doenças Retinianas/fisiopatologia , Tomografia de Coerência Óptica , Acuidade Visual/fisiologia
9.
Doc Ophthalmol ; 126(3): 233-40, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23686677

RESUMO

BACKGROUND: This study aimed to evaluate the clinical phenotype and investigate the molecular genetic defect in a Chinese family with autosomal dominant cone-rod dystrophy (ADCRD). METHODS: Family history was collected and patients underwent regular ophthalmologic examinations. Two affected individuals underwent three-year follow-ups to analyze the course of the disease. Venous blood was collected from family members and genomic DNA was extracted. A whole genome linkage analysis of 11 family members was performed using an Illumina Infinium Human Linkage-12 panel. All exons and exon-intron boundaries of guanylate cyclase 2D gene (GUCY2D) were sequenced for familial gene mutation. RESULTS: Decreased visual acuity and photophobia usually commenced in early childhood in these patients. The family demonstrated an age-dependent increase in macular abnormalities with progressive development of geographic atrophy. Electrophysiological testing revealed a marked loss of cone function. Initially, a genome-wide linkage analysis mapped the disease to chromosome 17 (1-36 cM), with a maximum LOD score of 1.505. Sequence analysis of the GUCY2D gene in the linkage interval detected a recurrent heterozygous mutation, c.2513G > C (p.R838P). This mutation appeared in all seven patients with ADCRD but did not appear in any of the four unaffected family members. CONCLUSIONS: A missense mutation in the GUCY2D gene caused ADCRD in this family. Clinical follow-up of this family with a typical CRD phenotype revealed disease progression during the time period.


Assuntos
DNA/genética , Guanilato Ciclase/genética , Mutação , Receptores de Superfície Celular/genética , Células Fotorreceptoras Retinianas Cones/patologia , Degeneração Retiniana/genética , Segmento Externo da Célula Bastonete/metabolismo , Adolescente , Adulto , Análise Mutacional de DNA , Progressão da Doença , Eletrorretinografia , Feminino , Seguimentos , Guanilato Ciclase/metabolismo , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Fenótipo , Receptores de Superfície Celular/metabolismo , Degeneração Retiniana/epidemiologia , Degeneração Retiniana/fisiopatologia , Segmento Externo da Célula Bastonete/patologia , Fatores de Tempo , Tomografia de Coerência Óptica , Acuidade Visual , Adulto Jovem
10.
Doc Ophthalmol ; 126(2): 163-9, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-23208746

RESUMO

BACKGROUND: To present a pregnancy-associated thrombotic thrombocytopenic purpura (TTP) patient with bilateral serous retinal detachment (SRD). METHODS: Case report. RESULTS: A 28-year-old nulliparous woman with 31 weeks gestation was presented to the local hospital with preeclampsia, hemolytic anemia, thrombocytopenia and bilateral blurry vision. Funduscopic examination showed bilateral macular SRD. Within the first month after delivery of a live female baby via cesarean section (at 32 weeks gestation), the patient experienced a recurrent course of hemolytic anemia and thrombocytopenia, and was then transferred to our hospital. On admission, her best corrected visual acuity (BCVA) was 0.1 OU; optical coherence tomography (OCT) confirmed the presence of bilateral macular SRD; electroretinography (ERG) examination showed diminished rod responses with reduced a and b waves in cone and mixed rod-cone responses. She was ultimately diagnosed with TTP and was treated systemically with fresh frozen plasma, rituximab, prednisone and cyclophosphamide. Despite persistent visual disturbances, she was discharged 1 month after admission with stabilization of systemic manifestations. At her first follow-up visit 6 months after discharge, surprisingly, her BCVA had improved to 1.0 OU; fundus examination and OCT confirmed the complete resolution of bilateral macular SRD and ERG revealed subnormal (right) and normal (left) electrophysiological responses. We believe that in this case, the clinical context (pregnancy) in which TTP developed, the unreported ERG characteristics and the unexpected delayed visual recovery are worth reporting. CONCLUSIONS: TTP should be considered as a potential differential diagnosis in patients with pregnancy-associated SRD. Appropriate systemic treatment might be mandatory for visual recovery.


Assuntos
Complicações Hematológicas na Gravidez , Púrpura Trombocitopênica Trombótica/complicações , Recuperação de Função Fisiológica/fisiologia , Descolamento Retiniano/fisiopatologia , Acuidade Visual/fisiologia , Adulto , Feminino , Angiofluoresceinografia , Seguimentos , Fundo de Olho , Humanos , Gravidez , Descolamento Retiniano/diagnóstico , Descolamento Retiniano/etiologia , Fatores de Tempo , Tomografia de Coerência Óptica
11.
Mol Vis ; 18: 744-50, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22509104

RESUMO

PURPOSE: Retinal pigment epithelium-specific protein 65 kDa (RPE65) plays an essential role in vitamin A metabolism necessary for synthesizing the visual pigment 11-cis-retinal chromophore. Mutations in RPE65 cause the childhood blindness disorder known as Leber congenital amaurosis (LCA), as well as autosomal recessive retinitis pigmentosa (RP). The purpose of this study was to identify RPE65 mutations in Chinese patients with LCA, determine the prevalence of RPE65 mutations in this cohort, and assess the clinical features of those patients with RPE65 mutations. METHODS: Detailed ocular examinations were performed, and genomic DNA was isolated with standard methods for genetic diagnosis. All 14 exons of RPE65 were amplified with PCR and screened for mutation with direct DNA sequencing. Two hundred unrelated healthy Chinese subjects were screened to exclude nonpathogenic polymorphisms. Multiple alignments of eight eukaryotic RPE65 orthologs were performed. RESULTS: A total of 101 LCA patients, drawn from 100 unrelated families, were selected for mutation screening in the RPE65 gene. Compound heterozygous missense mutations Leu67Arg and Tyr368Cys were identified in two affected sisters and segregated with their family. Four previously reported polymorphisms were identified in this study. No other disease-related mutation was detected. The frequency spectrum of variations in the RPE65 gene was estimated to be 1% (1/100) in this cohort of Chinese patients with LCA. The two patients showed classical signs of LCA with relatively preserved central vision and retinal structure. CONCLUSIONS: The RPE65 mutation is a rare cause of LCA in the Chinese population. Compound heterozygous missense mutations Leu67Arg and Tyr368Cys are related to a relatively mild LCA phenotype. Genetic characterization of patients with RPE65 mutations is important for future rational therapies.


Assuntos
Povo Asiático , Amaurose Congênita de Leber/genética , Mutação de Sentido Incorreto , cis-trans-Isomerases/genética , Adolescente , Animais , Sequência de Bases , Estudos de Casos e Controles , Criança , Estudos de Coortes , Éxons , Feminino , Heterozigoto , Humanos , Dados de Sequência Molecular , Linhagem , Fenótipo , Alinhamento de Sequência , Análise de Sequência de DNA
12.
Mol Vis ; 18: 309-16, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22355242

RESUMO

PURPOSE: To describe the phenotype and genotype of three Mainland Chinese families affected by choroideremia (CHM). METHODS: Complete ophthalmic examinations were conducted in three unrelated Chinese families with CHM. Peripheral blood samples were collected from the families for genetic and immunoblot analysis. All exons and flanking intronic regions of the gene encoding Rab escort protein-1 (Rep-1) were amplified with PCR and screened for mutations with Sanger sequencing. The three-dimensional structure of mutated Rep-1 was modeled using sequence homology with rat proteins to analyze the effect of the mutation detected in one family. RESULTS: All affected males had characteristic signs and symptoms of CHM; however, central visual acuity impairment occurred earlier than expected. All female carriers older than 45 years had pigmentary changes, and one female carrier was symptomatic with vision loss. Three different mutations in Rep-1, c.1801-1G>A, c.1130 T>A, and c.612delAG, were detected in the three families. CONCLUSIONS: In Mainland Chinese families, the central visual acuity of male patients with CHM can be affected at an early age (second decade), whereas female CHM carriers may manifest signs and symptoms at a later age (≥ 45 years). One previously reported and two novel Rep-1 mutations were detected in three Chinese patients with CHM.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Coroideremia/genética , Mutação , Proteínas Adaptadoras de Transdução de Sinal/química , Adulto , Idade de Início , Idoso , Povo Asiático/genética , Sequência de Bases , China , Coroideremia/patologia , Coroideremia/fisiopatologia , Análise Mutacional de DNA , Feminino , Angiofluoresceinografia , Estudos de Associação Genética , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Modelos Moleculares , Linhagem , Conformação Proteica , Acuidade Visual/genética , Adulto Jovem
13.
Zhonghua Yi Xue Za Zhi ; 92(39): 2756-9, 2012 Oct 23.
Artigo em Chinês | MEDLINE | ID: mdl-23290162

RESUMO

OBJECTIVE: To explore the clinical features of Chinese patients with congenital stationary night blindness (CSNB). METHODS: An observational serial case study was conducted for 22 patients diagnosed as CSNB at Department of Ophthalmology, Peking Union Medical College Hospital from December 2003 through December 2011. Sixteen patients (72.7%) were males and 6 patients (27.3%) were females. Their age range was 4-73 years old. All of them underwent detailed ocular examinations including electroretinogram (ERG). Thirteen patients underwent optical coherence tomography (OCT) while 9 had visual field (VF) testing. Medical and family history was recorded. RESULTS: Seven patients had a positive family history. Thirteen patients (59.1%) complained of a poor night vision. Best corrected visual acuity was < 0.8 in both eyes for 16 patients (72.7%). There were nystagmus (n = 4) and strabismus (n = 4). Except for 1 complicated with background diabetic retinopathy, all other patients showed normal or myopic fundi. Nine patients revealed peripheral visual field defects. Twenty-one (95.5%) patients had Schubert-Bornstein type negative ERG while another one had Riggs type ERG. Among 21 Schubert-Bornstein type patients, 13 (61.9%) patients showed complete type CSNB and 8 (38.1%) were of incomplete CSNB. Before referral to our tertiary hospital, only 2 patients were suspected as CSNB. The common primary diagnoses included pathogenic myopia, amblyopia and retinitis pigmentosa. CONCLUSION: CSNB is frequently misdiagnosed in China. Poor visual acuity is one of the major complaints. And around 50% CSNB patients experience night vision problem. Complete CSNB is more common than incomplete type in China.


Assuntos
Oftalmopatias Hereditárias/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Miopia/diagnóstico , Cegueira Noturna/diagnóstico , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Eletrorretinografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Nistagmo Patológico/diagnóstico , Acuidade Visual , Adulto Jovem
14.
Mol Vis ; 18: 3021-xxx, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23288994

RESUMO

PURPOSE: To identify the mutations in the pre-mRNA processing factor 31 homolog (PRPF31) gene in Chinese families with autosomal dominant retinitis pigmentosa (adRP) and to characterize the clinical features of those patients who were found to have mutations in the PRPF31 gene. METHODS: Detailed ocular examinations were performed, and genomic DNA was isolated by standard methods for genetic diagnosis. Probands from each family were screened for mutations in the PRPF31 gene that was known to cause adRP. Cosegregation analysis was performed in the available family members. Linkage analysis was performed for one missense mutation to calculate the likelihood of its pathogenicity. Two hundred unrelated, healthy Chinese subjects were screened to exclude nonpathogenic polymorphisms. RESULTS: Forty Chinese families with adRP were selected by an analysis of pedigrees. We identified four mutations (c.196_197delAA, c.544_618del75bp, c.615delC, and c.895T>C) in total, and three deletions were novel. Cosegregation analysis of the available family members (20 patients and 17 unaffected family members) revealed that each index patient and all affected family members showed a heterozygous mutation in the PRPF31 gene. In two families, incomplete penetrance was observed. Linkage analysis achieved the maximum LOD score of c.895T>C is 2.09, achieved at θ=0. The four probands with PRPF31 mutations showed classical signs of RP, with relatively preserved central vision and severe visual field constriction. CONCLUSIONS: Our studies extended the mutation spectrum of PRPF31, and mutations in PRPF31 were found at a relatively high frequency (10%, 4 of 40 adRP families) in our cohort.


Assuntos
Povo Asiático , Proteínas do Olho/genética , Mutação , Penetrância , Retinose Pigmentar/genética , Adulto , Sequência de Bases , Estudos de Casos e Controles , Éxons , Feminino , Genes Dominantes , Ligação Genética , Heterozigoto , Humanos , Masculino , Dados de Sequência Molecular , Linhagem , Retinose Pigmentar/patologia , Testes de Campo Visual
15.
Doc Ophthalmol ; 123(1): 21-7, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-21701876

RESUMO

To assess the clinical features of and identify genetic defects in six Chinese families with X-linked retinoschisis (XLRS). Patients were recruited from ophthalmic clinics in Peking Union Medical College Hospital. A cohort of six unrelated families was identified. Clinical evaluation was performed on eight affected males (six probands) and five female carriers. Genomic DNA was extracted from peripheral leukocytes. All exons and the flanking introns of the RS1 gene were amplified by polymerase chain reaction and screened for mutations by direct DNA sequencing. One hundred control X chromosomes were screened by direct sequencing to exclude nonpathogenic polymorphisms. Typical foveal schisis was found in all eight patients, while peripheral schisis was noted in six patients. The six probands displayed electronegative electroretinography (ERG) in the standard combined response, while the remaining two patients showed non-recordable waveforms. Two novel mutations (W112X and S134P) and three previously identified missense mutations (R102Q, R200H, and R213W) were found. None of these novel nucleotide variations were observed in any of 100 ethnically matched control chromosomes. Chinese patients with XLRS displayed variability in phenotypes. Novel mutations in RS1 were associated with these patients. Identification of the disease-causing mutations in suspected families can help to confirm the diagnosis for the patients and recommend genetic counseling for the female carriers. In addition, genetic testing could provide important information for future treatment.


Assuntos
Povo Asiático/genética , Códon sem Sentido , Proteínas do Olho/genética , Mutação de Sentido Incorreto , Retinosquise/genética , Adulto , Sequência de Aminoácidos , Criança , Cromossomos Humanos X/genética , Análise Mutacional de DNA , Eletrorretinografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Linhagem , Fenótipo , Reação em Cadeia da Polimerase , Retina/fisiopatologia , Retinosquise/diagnóstico , Retinosquise/fisiopatologia , Tomografia de Coerência Óptica
17.
Zhonghua Yan Ke Za Zhi ; 41(9): 781-5, 2005 Sep.
Artigo em Chinês | MEDLINE | ID: mdl-16191342

RESUMO

OBJECTIVE: To evaluate the efficacy of two therapies, high-dose prednisone and COP in the treatment of patients with active thyroid-associated ophthalmopathy (TAO). METHODS: According to severity and compliance, the patients admitted in Peking Union Medical College Hospital from August 2000 to July 2003 were divided into two groups. Thirteen patients with active TAO were treated with high-dose prednisone. The initial dosage was 1.5-2.0 mg.kg(-1).d(-1) (maximal dosage 200 mg), tapering gradually, and shifting to alternate-day treatment. Fourteen patients in the COP group were treated with cyclophosphamide (CTX), oncovin (VCR) and prednisone. This therapy was modified from CHOP in the treatment of patients with non-Hodgkin's lymphoma: CTX 600 mg/m(2), VCR 1.1 mg/m(2) were administrated by intravenous infusion every 2-4 weeks, prednisone was given orally at 1 mg.kg(-1).d(-1) for seven days after each infusion. The duration of treatment for both groups was approximately 10 months. The parameters including clinical activity score (CAS), thickness of extra-ocular muscle as well as 24 h urinary GAG were used to evaluate the efficacy of treatment in both groups. RESULTS: There was no significant difference in age and sex between two groups. However the patients in the COP group were more severe than that in prednisone group (P < 0.05). CAS in the patients treated with prednisone before and after treatment were 4.4 +/- 1.8, 1.6 +/- 1.1 respectively, that in patients treated with COP were 6.5 +/- 1.6, 1.9 +/- 1.3 respectively. All these changes were highly significant (P < 0.01). The thickness of extra-ocular muscles in the patients treated with prednisone decreased from (6.5 +/- 1.5) mm to (5.8 +/- 1.1) mm, that in patients treated with COP decreased from (6.8 +/- 1.7) mm to (5.3 +/- 1.1) mm. Both changes were highly significant (P < 0.01). Comparative study of the changes in the thickness of extra-ocular muscle by percentage between two groups demonstrated that the muscle thickness in patients treated with COP was decreased by (23.7 +/- 4.3)%, that in patients treated with prednisone was by (13.3 +/- 4.6)%. The difference between the two groups was highly significant (P < 0.01). The 24 h urinary GAG level in patients treated by prednisone decreased from (33.6 +/- 6.6) mg/24 h before treatment to (16.7 +/- 2.5) mg/24 h after treatment. Those in COP group were (40.6 +/- 10.1) mg/24 h and (15.7 +/- 5.1) mg/24 h respectively. The difference was significant (P < 0.01) in each group. There were no serious complications during treatment. CONCLUSIONS: Both the prednisone and COP therapy are effective in the treatment of patients with active TAO. The preliminary results indicate that COP is more effective than prednisone, it suggests that COP might be feasible for treating patients with progressive and severe TAO.


Assuntos
Ciclofosfamida/uso terapêutico , Oftalmopatia de Graves/tratamento farmacológico , Prednisona/uso terapêutico , Vincristina/uso terapêutico , Adulto , Idoso , Anti-Inflamatórios/uso terapêutico , Quimioterapia Combinada , Feminino , Oftalmopatia de Graves/patologia , Humanos , Imunossupressores/uso terapêutico , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Resultado do Tratamento
18.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao ; 25(5): 585-9, 2003 Oct.
Artigo em Chinês | MEDLINE | ID: mdl-14650164

RESUMO

OBJECTIVE: To evaluate the static and dynamic contrast sensitivity changes in myopic patients before and after laser in situ keratomileusis (LASIK). METHODS: Seventy-three eyes in 37 patients with myopia (with or without astigmatism) who received LASIK were tested for static and dynamic contrast sensitivities using the METRO VISION MON ELEC I system at 0.7, 1.4, 2.7, 5.5, 11, and 22 cpd and cps prior to LASIK, and at one-, three-, and six-month intervals after LASIK. RESULTS: All eyes gained naked visual acuity of more than 0.5 after LASIK. The contrast sensitivity was depressed at all frequencies 1 month after LASIK, as compared to one week prior to LASIK. The depression at 2.7, 5.5, 11 (P < 0.01) and 22 cpd (P < 0.05) was statistically significant for static contrast sensitivity, and also at 5.5 (P < 0.01) and 11 cps (P < 0.05) for dynamic contrast sensitivity. Myopic eyes between 6.25 D and 14.0 D, and astigmatic eyes 2 DC and more, suffered more static and dynamic contrast sensitivity depression than the myopic eyes between 1.25 D and 6.00 D and astigmatic eyes less than 2 DC. Contrast sensitivities were improved and exceeded preoperative levels 3 months after LASIK, and improved even more 6 months after LASIK. All sequences were statistically significant for static contrast sensitivity (P < 0.01), while only 2.7, 5.5, and 11 cps were statistically significant for dynamic contrast sensitivity (P < 0.01). The astigmatic eyes 2 DC and more showed less improvement, even below the preoperative level at 1.4 cps of dynamic contrast sensitivity. CONCLUSIONS: While temporary depression of contrast sensitivity for myopic eyes after LASIK was seen, contrast sensitivity soon returned to exceed preoperative levels at 3 months after LASIK, while improving even more 6 months after LASIK.


Assuntos
Sensibilidades de Contraste , Ceratomileuse Assistida por Excimer Laser In Situ , Miopia/cirurgia , Adolescente , Adulto , Astigmatismo/cirurgia , Córnea/cirurgia , Feminino , Humanos , Masculino , Miopia/fisiopatologia , Acuidade Visual
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