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1.
Beijing Da Xue Xue Bao Yi Xue Ban ; 55(3): 558-562, 2023 Jun 18.
Artigo em Chinês | MEDLINE | ID: mdl-37291935

RESUMO

The patient was a 55-year-old man who was admitted to hospital with "progressive myalgia and weakness for 4 months, and exacerbated for 1 month". Four months ago, he presented with persistent shoulder girdle myalgia and elevated creatine kinase (CK) at routine physical examination, which fluctuated from 1 271 to 2 963 U/L after discontinuation of statin treatment. Progressive myalgia and weakness worsened seriously to breath-holding and profuse sweating 1 month ago. The patient was post-operative for renal cancer, had previous diabetes mellitus and coronary artery disease medical history, had a stent implanted by percutaneous coronary intervention and was on long-term medication with aspirin, atorvastatin and metoprolol. Neurological examination showed pressure pain in the scapularis and pelvic girdle muscles, and V- grade muscle strength in the proximal extremities. Strongly positive of anti-HMGCR antibody was detected. Muscle magnetic resonance imaging (MRI) T2-weighted image and short time inversion recovery sequences (STIR) showed high signals in the right vastus lateralis and semimembranosus muscles. There was a small amount of myofibrillar degeneration and necrosis, CD4 positive inflammatory cells around the vessels and among myofibrils, MHC-Ⅰ infiltration, and multifocal lamellar deposition of C5b9 in non-necrotic myofibrils of the right quadriceps muscle pathological manifestation. According to the clinical manifestation, imageological change, increased CK, blood specific anti-HMGCR antibody and biopsy pathological immune-mediated evidence, the diagnosis of anti-HMGCR immune-mediated necrotizing myopathy was unequivocal. Methylprednisolone was administrated as 48 mg daily orally, and was reduced to medication discontinuation gradually. The patient's complaint of myalgia and breathlessness completely disappeared after 2 weeks, the weakness relief with no residual clinical symptoms 2 months later. Follow-up to date, there was no myalgia or weakness with slightly increasing CK rechecked. The case was a classical anti-HMGCR-IMNM without swallowing difficulties, joint symptoms, rash, lung symptoms, gastrointestinal symptoms, heart failure and Raynaud's phenomenon. The other clinical characters of the disease included CK as mean levels >10 times of upper limit of normal, active myogenic damage in electromyography, predominant edema and steatosis of gluteus and external rotator groups in T2WI and/or STIR at advanced disease phase except axial muscles. The symptoms may occasionally improve with discontinuation of statins, but glucocorticoids are usually required, and other treatments include a variety of immunosuppressive therapies such as methotrexate, rituximab and intravenous gammaglobulin.


Assuntos
Doenças Autoimunes , Inibidores de Hidroximetilglutaril-CoA Redutases , Doenças Musculares , Miosite , Masculino , Humanos , Pessoa de Meia-Idade , Autoanticorpos , Miosite/diagnóstico , Músculo Esquelético/patologia , Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico , Necrose/patologia , Doenças Musculares/diagnóstico , Doenças Musculares/tratamento farmacológico
4.
Zhonghua Nei Ke Za Zhi ; 58(2): 91-101, 2019 Feb 01.
Artigo em Chinês | MEDLINE | ID: mdl-30704195

RESUMO

Criteria for diagnosis of Alzheimer's disease (AD) is not available in China. The international criteria is not a proper choice due to issues such as translation and lead to low diagnostic rate and high rate of missed diagnosis. The research group of Alzheimer's Disease Chinese (ADC) reviewed knowledge and techniques in neuropsychology, neuroimaging, molecular biology, and clinical neurology, and systematically studied the detection techniques such as memory, language, visuospatial, executive function, and medial temporal lobe visual scores on MRI, and their optimal threshold and diagnostic value for the diagnosis of AD. Through a systematic review and consensus meeting, a diagnostic framework for screening AD in the Chinese population was established. Among these methods, an operational standard for clinical pathology models increased the diagnostic sensitivity by 15%. The sensitivity and specificity of screening memory impairment increased by 18.1% and 11.6%, respectively. The sensitivity of screening medial temporal lobe atrophy increased by 24.5% and missed diagnosis was decreased by 34.5%. An operational standard for clinical biology models, incorporating the latest molecular imaging and molecular biology techniques, has enabled the early diagnosis of AD in China. The framework combines a principled diagnostic guideline with an operational screening protocol, which is applicable to all clinical settings and of great significance for the early detection, early diagnosis and early treatment of AD.


Assuntos
Doença de Alzheimer/diagnóstico , Programas de Rastreamento/métodos , China , Humanos , Sensibilidade e Especificidade , Revisões Sistemáticas como Assunto
5.
Zhonghua Nei Ke Za Zhi ; 57(12): 894-900, 2018 Dec 01.
Artigo em Chinês | MEDLINE | ID: mdl-30486557

RESUMO

There are no standard diagnostic criteria for Alzheimer's disease (AD) in China. The copied international criteria has led to a high rate of missed diagnosis due to issues such as translation and cultural discrepancy. Under the principles of semantic equivalence, content equivalence and performance equivalence, the research group of Alzheimer's Disease Chinese (ADC) adopted several effective methods, such as two-way translation, content conversion, performance evaluation, etc. to systematically study the cognitive, behavioral, functional, and general assessment techniques in dementia screening and diagnosis, as well as their screening thresholds and diagnostic values. We also established a dementia screening and assessment framework in clinical practice through systematic reviews and group consensus. It has improved the early diagnosis rate of dementia in China, been accepted by home and abroad academic institutions, which is of great significance for early diagnosis and treatment of dementia.


Assuntos
Povo Asiático , Transtornos Cognitivos/diagnóstico , Demência/diagnóstico , Programas de Rastreamento/métodos , Guias de Prática Clínica como Assunto , Idoso , China , Transtornos Cognitivos/classificação , Demência/etnologia , Diagnóstico Precoce , Humanos
6.
Beijing Da Xue Xue Bao Yi Xue Ban ; 49(6): 1019-1026, 2017 Dec 18.
Artigo em Chinês | MEDLINE | ID: mdl-29263475

RESUMO

OBJECTIVE: To assess the midterm clinical and radiological outcomes of internal fixation and fusion for the treatment of Hirayama disease and to evaluate the clinical significance and value of this procedure. METHODS: In the study, 36 patients were treated with anterior cervical internal fixation and fusion. The clinical outcomes including muscle strength and atrophy were recorded. The radiological outcomes including range of motion of cervical spine and the cross-sectional area of spinal cord at each level on MRI scan were measured before and at 3 month, 1 year and 2 years follow-up time points after surgery. RESULTS: (1) Clinical outcomes: all the patients showed no further progression of symptoms except one patient with mild progression of muscular weakness and atrophy. As the time passed by, the ratio of the patients with muscle strength and atrophy improvement increased. There were 26.5% of patients in 3 months, 36.0% in 1 year and 85.7% in 2 years who experienced muscle strength improvement. 8.8% of patients in 3 months, 24.0% in 1 year and 35.8% in 2 years felt muscle atrophy improvement. And 12 of the 14 patients showed improved muscle strength and atrophy at the end of 2 years period follow-up. (2) Radiological outcomes: the range of motion (ROM) of C2-C7 was significantly decreased after the operation. The ROM of preoperation was 62.25°±2.10° and that of 2 years postoperation was 13.67°±7.51°(P<0.01). The spinal cord was of no compression on flexion MRI. The cross-section area of spinal cord on MRI was significantly increased only at C6 level (P<0.05) at the end of three months follow-up. The level of increased cross-section area rose to C4-C5-C6 levels (P<0.01) in 1 year and to C4-C5-C6-C7 levels at the end of 2 years follow-up (P<0.05). The cross-section area increased 15.60% at C4, 19.08% at C5, 21.60% at C6 and 23.91% at C7 with significant difference (P<0.05) 2 years after the operation. CONCLUSION: Anterior cervical internal fixation and fusion is an effective surgical treatment for Hirayama disease and may provide preferable midterm clinical and radiological outcomes. This procedure has clinical significance and value in terms of control of the progression and outcome of this disease.


Assuntos
Imageamento por Ressonância Magnética , Radiografia , Atrofias Musculares Espinais da Infância/cirurgia , Vértebras Cervicais , Fixação Interna de Fraturas , Humanos , Amplitude de Movimento Articular , Fusão Vertebral , Atrofias Musculares Espinais da Infância/diagnóstico por imagem , Resultado do Tratamento
7.
Zhonghua Yi Xue Za Zhi ; 96(43): 3485-3488, 2016 Nov 22.
Artigo em Chinês | MEDLINE | ID: mdl-27903343

RESUMO

Objective: To summarize the therapeutic approaches of patients with Hirayama disease and investigate the patient's compliance to cervical collar therapy and its influencing factors. Methods: This was a retrospectively study.The clinical data of 73 patients was collected from Peking university 3rd hospital between 2010 and 2014. Results: (1)Of the 73 patients, 10 patients received surgery, 36 patients received collar therapy , and 27 patients received other conservative therapy at first visit.(2)The mean collar wearing time was from 0.3 to 36 months (means was 7±11 months). 28 patients (77.8%) wore less than 6 months, only 8 patients (22.2%) wore for more than 1 year. (3)The influencing factors were affecting appearance (33.3%), inconvenience to work (22.2%), surgical treatment performed after the exacerbation of symptoms(14.3%), illness stabilization (9.5%), choosing other conservative therapy (9.5%), personally feeling not seriously (8%) and discomfort while wearing (3.2%). (4)The patients with younger age of onset and treatment were more likely to choose neck care, while patients with older age of onset and treatment tended to choose more conservative treatment(P<0.05). Conclusions: As Hirayama disease can cause disability, application of a cervical collar to minimize neck flexion can prevent progressive muscular weakness in the early stages of the disease. But from our study, the compliance to cervical collar therapy is unsatisfactory.Multiple factors influence the compliance.Education for patients must be enhanced, and other methods to promote the therapeutic compliance should also be developed.


Assuntos
Pescoço , Atrofias Musculares Espinais da Infância , Vértebras Cervicais , Humanos , Cooperação do Paciente , Estudos Retrospectivos
8.
Eye (Lond) ; 24(7): 1171-6, 2010 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-20139912

RESUMO

PURPOSE: To report the surgical outcomes of 24 patients undergoing single-staged three horizontal muscles squint surgery for extra-large angle exotropia. PATIENTS AND METHODS: Prospective case series of 24 consecutive patients with primary exotropia>60 prism diopters (PD) at distant and underwent single-staged three horizontal muscles squint surgery from 2003 to 2006. Surgery consisted of bilateral lateral rectus recession of 9.0 mm for 50 PD exotropic correction. For every 5 PD remaining angle exceeding 50 PD, we additionally performed 1.0 mm of unilateral medial rectus resection. The mean follow-up period was 15.8 months (range 6.0-38.0 months; SD 9.5 months). RESULTS: The mean age at surgery was 31.2 years old (range 7-78 years old, SD 18.2 years old). The mean distant preoperative deviation was 71.3 PD (range 60-85 PD, SD 7.7 PD). No limitation of eye movement or diplopia was found. The success rate was higher in the intermittent group (88.2%) than the constant group (42.9%) (P=0.02) and in cases with preoperative deviation of <80 PD (84.2%) compared with those with deviation>or=80 PD (40.0%) (P=0.042). CONCLUSION: Measurement of preoperative deviation and the surgery for extra-large angle exotropia made management of this condition difficult. Single-staged three horizontal muscles squint surgery can be one of the options. Further researches on management of exotropia of >80 PD are warranted.


Assuntos
Exotropia/cirurgia , Músculos Oculomotores/cirurgia , Adolescente , Adulto , Idoso , Criança , Exotropia/fisiopatologia , Medições dos Movimentos Oculares , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Procedimentos Cirúrgicos Oftalmológicos , Estudos Prospectivos , Adulto Jovem
9.
Eye (Lond) ; 24(1): 44-9, 2010 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19300466

RESUMO

PURPOSE: To assess surgical, visual, refractive, and aesthetic outcomes 13 years after mersilene mesh frontalis sling (MMFS) operation for severe unilateral congenital ptosis performed in 10 infants before 1 year of age. METHODS: Longitudinal follow-up of an interventional case series by structured ocular examinations, external photographs, and questionnaire-based interviews. RESULTS: Mean age at surgery was 6.9+/-2.7 months. After a mean follow-up of 13.0+/-0.6 years, one patient (10%) had recurrent ptosis with the upper lid 2 mm below the superior limbus at 3 months postoperatively. Best-corrected visual acuities were within two Snellen lines between the two eyes in all patients. Astigmatic errors were 1.20+/-1.00 D and 1.10+/-1.70 D between operated and unoperated eyes. Four patients had 2 mm lid lag on down-gaze and one of them had 2 mm lagophthalmos. Mean satisfaction scores (scale of 1 to 100) for lid position, cosmesis, function, and to the procedure were 83.3+/-11.8, 77.0+/-22.9, 89.4+/-5.5, and 86.8+/-6.3, respectively. No case of overcorrection, sling extrusion, stitch granuloma, or exposure keratopathy was noted. CONCLUSIONS: In view of the low recurrence rate (10%) and absence of serious complication or need for revision after 13 years, the use of MMFS seems effective and feasible in infants less than 1 year old. Achieving compatible long-term stability, satisfactory aesthetic, and visual outcomes, MMFS may offer an alternative to delaying operations for autogenous fascia lata harvesting in infants requiring early ptosis correction.


Assuntos
Blefaroptose/congênito , Blefaroptose/cirurgia , Procedimentos Cirúrgicos Oftalmológicos/métodos , Polietilenotereftalatos , Telas Cirúrgicas , Seguimentos , Humanos , Lactente , Masculino , Satisfação do Paciente , Refração Ocular/fisiologia , Inquéritos e Questionários , Acuidade Visual
10.
Br J Ophthalmol ; 93(12): 1616-9, 2009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19586931

RESUMO

AIM: To study postoperative residual vertical deviation and abnormal head posture (AHP) after surgical treatment for congenital superior oblique palsy (SOP). METHOD: Children with both SOP and AHP who underwent extraocular muscle surgery for correction of AHP were recruited. The patients received complete ophthalmic and orthopaedic examinations. Residual AHP was classified according to severity of face turn, head tilt and chin elevation. RESULTS: Thirty-two children with mean age at operation of 82.6 months were recruited, with mean follow-up of 37.9 months. Of these children, 65.6% had a postoperative vertical deviation of less than three prism dioptres. In addition, 34.4% patients had resolved (0 degrees ), 34.4% had mild (1 degrees -10 degrees ), and 31.3% had significant residual torticollis (>10 degrees ). Of the patients with significant residual torticollis, 33.3% had ocular causes. The mean age at operation for the patients with residual torticollis (95.9 months) was older than those without torticollis (79.9 months) (p = 0.018). Residual torticollis was found to be related to sternocleidomastoid muscle tightness (p = 0.013). CONCLUSION: The success rate for eliminating significant AHP after strabismus surgery for patients with congenital SOP was 68.8%. Early surgery was associated with a better outcome. Association was also found between sternocleidomastoid tightness and AHP. A multidisciplinary approach is recommended in the management of torticollis as ophthalmic and orthopaedic comorbidities can coexist.


Assuntos
Complicações Pós-Operatórias , Estrabismo/cirurgia , Torcicolo/etiologia , Doenças do Nervo Troclear/cirurgia , Adolescente , Fatores Etários , Criança , Pré-Escolar , Assimetria Facial/etiologia , Movimentos da Cabeça , Humanos , Músculos Oculomotores/cirurgia , Postura , Estudos Prospectivos , Estrabismo/complicações , Resultado do Tratamento , Doenças do Nervo Troclear/complicações , Doenças do Nervo Troclear/congênito
11.
Eye (Lond) ; 19(8): 885-90, 2005 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-15389275

RESUMO

AIMS: To assess the safety and efficacy of phacoemulsification with intravitreal triamcinolone (ivTA) injection in diabetics with cataract and clinically significant macular oedema (CSMO). METHODS: A total of 19 eyes of 15 consecutive diabetic patients with cataract and CSMO were prospectively recruited. Patients underwent phacoemulsification and intraocular lens implantation with 4 mg ivTA injection at completion of surgery. Patients were followed up on day 1, then weekly for 1 month, and thereafter monthly until 6 months postoperatively. Best corrected visual acuity (BCVA), central macular thickness (CMT) measured by optical coherence tomography, and adverse events were recorded. RESULTS: In total, 17 eyes completed 6 months of follow-up. In all, 58.8% showed improvement in BCVA of >or=2 lines, with statistically significant improvement in mean Snellen BCVA of 2.4 lines at 6 months. The peak BCVA was achieved at 4 months. The mean CMT decreased from a baseline of 449 microm to a minimum of 321+/-148 microm (28.5% reduction) achieved at 2 months, with statistically significant reduction at all postoperative time intervals until 6 months. Of 17 eyes, 4 (23.5%) developed transiently elevated intraocular pressure that normalised by 6 months in all but one patient. No injection- or surgery-related complications were encountered. CONCLUSIONS: Phacoemulsification with concurrent 4 mg ivTA injection appears to be a safe option for managing diabetics with cataract and CSMO. However, large-scaled randomised controlled trials are necessary for delineating the relative contributions of cataract removal and CMT reduction to visual improvement. Moreover, the transient effect on CMT may warrant further studies to determine optimal timing and dosage of further ivTA injections.


Assuntos
Catarata/complicações , Retinopatia Diabética/complicações , Edema Macular/complicações , Facoemulsificação/métodos , Triancinolona Acetonida/uso terapêutico , Idoso , Idoso de 80 Anos ou mais , Anti-Inflamatórios/uso terapêutico , Métodos Epidemiológicos , Feminino , Glucocorticoides/uso terapêutico , Humanos , Edema Macular/tratamento farmacológico , Edema Macular/patologia , Masculino , Pessoa de Meia-Idade , Facoemulsificação/efeitos adversos , Resultado do Tratamento , Acuidade Visual
12.
Eye (Lond) ; 19(5): 546-8, 2005 May.
Artigo em Inglês | MEDLINE | ID: mdl-15319792

RESUMO

PURPOSE: To investigate the long-term outcome of using autogenous palmaris longus tendon (PLT) sling for correcting congenital ptosis in children. METHODS: This is an observational case series involving 15 eyelids of 14 consecutive children with congenital ptosis who underwent frontalis suspension surgery using PLT in a university teaching hospital. RESULTS: One child had bilateral ptosis and the other children had unilateral ptosis. The age of patients at the time of surgery ranged from 2 to 7 years, with an average of 4.7 years. At a mean follow-up of 92 months (range, 80-104 months), all eyelids were successfully corrected with good lid height. No recurrence or other postoperative complications were encountered except one patient who developed a small skin fold over the PLT harvest site. CONCLUSION: Long-term lid position is remarkably stable after surgical correction using PLT. PLT sling appears to be a safe and effective treatment for children with congenital ptosis requiring frontalis sling operation. It could be a good alternative to autogenous fascia lata, and further studies, to compare these two sling materials seem warranted.


Assuntos
Blefaroplastia/métodos , Blefaroptose/cirurgia , Tendões/transplante , Blefaroptose/congênito , Blefaroptose/patologia , Criança , Pré-Escolar , Pálpebras/patologia , Pálpebras/cirurgia , Feminino , Seguimentos , Humanos , Masculino , Resultado do Tratamento
13.
Eye (Lond) ; 19(6): 625-30, 2005 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-15184946

RESUMO

PURPOSE: To assess the intraocular pressure (IOP) and corneal endothelial changes, over a 6-month period, after a single injection of intravitreal triamcinolone (ivTA) in Chinese patients. METHODS: A total of 43 eyes of 43 consecutive Chinese patients with various macular diseases received a single bolus injection of 4 mg ivTA, of which, 14 eyes with significant cataracts underwent simultaneous phacoemulsification and primary intraocular lens implantation. IOP was measured preoperatively and weekly in the first month, and then monthly until 6 months postinjection. Specular microscopy was performed on 24 of the 29 eyes without simultaneous cataract surgery, preoperatively and at months 1, 3, and 6. RESULTS: All patients completed 6 months of follow-up. Nine out of 43 (20.9%) eyes had IOP >21 mmHg. Their mean maximum IOP was 29.2 mmHg (range 23.0-37.0), necessitating the use of 2.0 types of topical antiglaucomatous medications on average. The IOP elevation occurred at a mean of 5.2 weeks (range 1-17) postinjection. All IOPs returned to normal, without additional antiglaucomatous medications, by 6 months. There was no statistically significant difference (paired t-test, P<0.05) in the corneal endothelial cell count and other specular microscopy parameters up to 6 months after the injections. CONCLUSION: A single 4 mg bolus injection of ivTA appeared to have no harmful effects on the corneal endothelium. IvTA caused transient IOP elevations in 20.9% of Chinese patients, similar to that observed in Caucasians. As the IOP rise can occur as early as 1 week after the injection, early monitoring will help its early detection and prevent optic nerve damage.


Assuntos
Anti-Inflamatórios/administração & dosagem , Extração de Catarata , Pressão Intraocular/efeitos dos fármacos , Triancinolona/administração & dosagem , Adulto , Idoso , Idoso de 80 Anos ou mais , China , Endotélio Corneano/efeitos dos fármacos , Feminino , Seguimentos , Humanos , Injeções , Período Intraoperatório , Degeneração Macular/complicações , Edema Macular/complicações , Masculino , Pessoa de Meia-Idade , Corpo Vítreo
14.
Eye (Lond) ; 16(5): 608-18, 2002 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-12194077

RESUMO

PURPOSE: To establish the incidence, etiology and risk factors for microbial keratitis (MK) in Hong Kong. METHODS: Two hundred and twenty-three new cases of presumed MK were recruited over a period of 17 months and comprehensive microbiologic studies performed. A nested case-control study was pursued for patients wearing contact lenses (CLW) to determine risk factors for MK with regards to types of CLW and hygiene practice. RESULTS: Of the 223 patients recruited, 59 (26%) wore contact lenses. Corneal scrapes yielded positive cultures from 77 patients (35% overall, 56 non-CLW, 21 CLW). Two hundred and six CLW volunteers were recruited to participate in the case-control study, of whom 135 were matched with 45 CLW patients. The annual incidence of MK was 0.63 per 10,000 population and 3.4 per 10,000 CLW with rates for daily, extended and rigid lens wear of 3.09, 9.30 and 0.44 per 10,000 CLW respectively. Pseudomonas aeruginosa was the dominant bacterial pathogen. Six cases of Acanthamoeba keratitis occurred, five in CLW (incidence 0.33 per 10,000 CLW) and one following corneal abrasion. Non-CLW developed MK at a peak age of 73, which is 10 years younger than expected for Scotland and USA. CONCLUSIONS: Previous ocular surface disease and trauma were the main risk factors for MK in Hong Kong. CLW appears at least as safe as that found in Scotland and the USA. Acanthamoeba keratitis was detected but with an incidence rate five times lower than Scotland. Factors predisposing hydrogel CLWs to MK, that were statistically significant, included overnight wear, poor hygiene and smoking.


Assuntos
Lentes de Contato/efeitos adversos , Infecções Oculares/etiologia , Ceratite/etiologia , Ceratite por Acanthamoeba/epidemiologia , Ceratite por Acanthamoeba/etiologia , Adulto , Idoso , Estudos Epidemiológicos , Infecções Oculares/epidemiologia , Infecções Oculares Bacterianas/epidemiologia , Infecções Oculares Bacterianas/etiologia , Infecções Oculares Fúngicas/epidemiologia , Infecções Oculares Fúngicas/etiologia , Feminino , Hong Kong/epidemiologia , Humanos , Higiene , Ceratite/epidemiologia , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Países Baixos/epidemiologia , New England/epidemiologia , Escócia/epidemiologia
15.
Ophthalmologica ; 215(6): 408-11, 2001.
Artigo em Inglês | MEDLINE | ID: mdl-11741105

RESUMO

Mutations in the adenomatous polyposis coli gene (APC) often cause both congenital hypertrophy of the retinal pigment epithelium (CHRPE) and familial adenomatous polyposis (FAP). To investigate the relationship between APC mutations, CHRPE and FAP, all FAP patients at the Prince of Wales Hospital, Hong Kong, were asked to participate in a study. Ten Chinese patients from 6 kindreds and their family members volunteered, along with 12 healthy control subjects selected among hospital visitors and staff. All were examined for dilated fundus by indirect ophthalmoscopy. Mutations in APC coding exons were detected by sequencing. In one FAP patient, a novel A insertion at codon 1023 was detected. Three previously reported mutations were detected in 6 FAP patients: a deletion of ACAAA at codon 1061, and 2 truncating point substitutions at codons 216 and 283. In 3 FAP patients, no APC mutation was found, suggesting that mutations in APC coding regions are not the sole cause of FAP or CHRPE. A total of 64 CHRPE lesions were found in FAP patients and some relatives with and without APC mutations. Contrary to most reports, APC mutations before exon 9 did cause CHRPE lesions, albeit relatively few.


Assuntos
Polipose Adenomatosa do Colo/genética , Genes APC , Mutação , Epitélio Pigmentado Ocular/patologia , Polipose Adenomatosa do Colo/etnologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Povo Asiático , Criança , Pré-Escolar , Análise Mutacional de DNA , Éxons , Feminino , Hong Kong/epidemiologia , Humanos , Hipertrofia/congênito , Hipertrofia/etnologia , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase
16.
Ophthalmology ; 108(11): 1973-7, 2001 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-11713064

RESUMO

OBJECTIVE: To investigate the ocular hypertensive and antiinflammatory response to different dosages of fluorometholone (FML). DESIGN: Prospective clinical trial with randomization of fellow eyes to different postoperative treatment. PARTICIPANTS: Thirty-one consecutive children undergoing bilateral symmetrical strabismus operation. INTERVENTION: Among 31 children who received bilateral squint operations, one eye was randomized to receive topical FML six times daily (group 1), whereas the other eye received topical FML three times daily (group 2), both for 4 weeks. Intraocular pressure (IOP) and antiinflammatory response were measured serially in the postoperative period for 8 weeks. MAIN OUTCOME MEASURES: Intraocular pressure was measured on the day before surgery and on postoperative days 1, 3, 6, 13, 20, 27, 41, and 55. The antiinflammatory response was also assessed subjectively and objectively at days 6, 13, 20, and 27 after the operations. Peak IOP, net increase in IOP, and antiinflammatory responses in the two study groups were analyzed. RESULTS: Thirty-one children, age 3 to 9 years, (mean +/- standard deviation [SD], 5.52 +/- 1.81) participated in the study. Intraocular pressure increased significantly in both groups compared with the preoperative values (P < 0.001). The peak IOP ranged from 12.00 to 31.00 mmHg and 12.30 to 25.00 mmHg in groups 1 and 2, respectively. The mean peak IOP (19.00 +/- 5.06 mmHg vs. 17.13 +/- 3.32 mmHg) was significantly higher in group 1 (P < 0.001). The net increase in IOP was similar (mean +/- SD, 4.37 +/- 4.79 vs. 2.57 +/- 3.32 mmHg; P = 0.005). Ranges of the net IOP increase were -1.00 to 16.00 mmHg and -2.50 to 10.30 mmHg in groups 1 and 2, respectively. Children in group 1 reached the peak IOP earlier than those in group 2 (median, 6 vs. 13 days; P = 0.033). However, there was no significant difference in antiinflammatory response between the two groups. CONCLUSIONS: Ocular hypertension occurs in a dose-dependent manner in children treated with FML. Children in group 1 had a quicker onset and more severe ocular hypertensive response than those in group 2. It would be desirable to monitor the IOP regularly when FML is used with a high frequency and for a long duration in children.


Assuntos
Anti-Inflamatórios/efeitos adversos , Conjuntivite/tratamento farmacológico , Fluormetolona/efeitos adversos , Pressão Intraocular/efeitos dos fármacos , Hipertensão Ocular/induzido quimicamente , Administração Tópica , Anti-Inflamatórios/administração & dosagem , Criança , Pré-Escolar , Conjuntivite/fisiopatologia , Relação Dose-Resposta a Droga , Feminino , Fluormetolona/administração & dosagem , Glucocorticoides , Humanos , Masculino , Hipertensão Ocular/fisiopatologia , Estudos Prospectivos , Fatores de Risco , Estrabismo/cirurgia
17.
Am J Ophthalmol ; 132(2): 172-7, 2001 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-11476675

RESUMO

PURPOSE: To report the rate of ultrasonically visible vitreous incarceration and longitudinal changes of incarcerated vitreous in pars plana sclerotomies after conventional suturing or sutureless technique using ultrasound biomicroscopy. METHODS: Twenty-five consecutive eyes (25 patients) undergoing primary three-port pars plana vitrectomy participated. The first 16 pars plana vitrectomies were performed with standard conventional sutured sclerotomies, and the following nine pars plana vitrectomies were performed with modified sutureless sclerotomies. Patient demographics, diagnoses, procedures, and complications were recorded. Each patient had ultrasound biomicroscopy performed 1 week before surgery, and also after surgery at 1 week, 2 weeks, 3 weeks, 4 weeks, 2 months, 3 months, and 6 months. Visible vitreous incarceration was graded as 0 to 3. RESULTS: Vitreous incarceration was seen in 41 of 48 sclerotomies (85.4%) in the conventionally sutured group, and in 23 of 27 sclerotomies (85.2%) in the sutureless group, with no significant difference in severity among sclerotomies within each group and between the two groups. There was a significant difference in the rate of vitreous incarceration between diabetic patients with proliferative retinopathy and others (P =.002). No progressive change of visible vitreous incarceration was noted in any eye during the 6-month postoperative period. No sclerotomy-related complications occurred during the study period. CONCLUSIONS: Ultrasound biomicroscopy showed no difference in the amount of visible vitreous incarceration in conventionally sutured or sutureless sclerotomies. There was no visible longitudinal change in the incarcerated vitreous during the 6 months of follow-up in uncomplicated cases.


Assuntos
Procedimentos Cirúrgicos Minimamente Invasivos , Esclera/diagnóstico por imagem , Esclerostomia/métodos , Técnicas de Sutura , Vitrectomia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Seguimentos , Humanos , Masculino , Microscopia , Pessoa de Meia-Idade , Estudos Prospectivos , Doenças Retinianas/cirurgia , Ultrassonografia
19.
J Cataract Refract Surg ; 27(2): 297-302, 2001 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-11226798

RESUMO

PURPOSE: To evaluate the effect of preoperative keratometry on the refractive outcome after laser in situ keratomileusis (LASIK) for myopia. SETTING: University Eye Clinic, Prince of Wales Hospital, Hong Kong, China. METHODS: In this retrospective study, the records of patients who had LASIK for myopia greater than -6.0 diopters (D) using the Chiron Automated Corneal Shaper and the Schwind Keratome-F excimer laser were reviewed. RESULTS: Laser in situ keratomileusis was performed in 167 eyes of 103 patients (mean age 34.7 years +/- 7.5 [SD]). Preoperative myopic spherical equivalent (SE) refraction was -9.0 +/- 2.0 D (range -6.0 to -13.9 D). Three months after surgery, SE refraction was -0.04 +/- 1.1 D (range +2.3 to -3.3 D); uncorrected visual acuity > or = 20/40 was present in 91.8% of 110 eyes in which emmetropia was the postoperative goal. Mean preoperative keratometry was 43.9 +/- 1.5 D (range 40.3 to 48.1 D). When eyes were stratified by the degree of preoperative myopia in 1.0 D steps, a trend toward greater undercorrection was noted in eyes with preoperative keratometry < 43.5 D than in those with steeper keratometry (> 44.5 D) in all myopia groups except the -7.0 to -7.9 D group. This difference was statistically significant in eyes with a preoperative SE of -10.0 to -10.9 D and -11.0 to -11.9 D. CONCLUSIONS: Preoperative keratometry appeared to influence the refractive outcome after myopic LASIK. Eyes with flatter corneas tended to have greater undercorrection than eyes with similar myopia and steeper corneas. Validation of these findings in larger data sets using the methodology described may improve the predictability of current LASIK nomograms, particularly in eyes with high myopia.


Assuntos
Córnea/patologia , Técnicas de Diagnóstico Oftalmológico , Ceratomileuse Assistida por Excimer Laser In Situ , Miopia/diagnóstico , Refração Ocular , Adolescente , Adulto , Córnea/cirurgia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Miopia/cirurgia , Cuidados Pós-Operatórios , Cuidados Pré-Operatórios , Estudos Retrospectivos , Resultado do Tratamento , Acuidade Visual
20.
J Neural Transm Suppl ; (58): 181-91, 2000.
Artigo em Inglês | MEDLINE | ID: mdl-11128607

RESUMO

Parkinson's disease (PD) is characterized by the progressive loss of the dopaminergic neurons in the substantia nigra and a severe decrease in dopamine in the striatum. A promising approach to the gene therapy of PD is intrastriatal expression of dopamine-synthesizing enzymes [tyrosine hydroxylase (TH) and aromatic L-amino acid decarboxylase (AADC)]. The most appropriate gene-delivery vehicles for neurons are adeno-associated virus (AAV) vectors, which are derived from non-pathogenic virus. Therefore, TH and AADC genes were introduced into the striatum in the lesioned side using separate AAV vectors in parkinsonian rats, and the coexpression of TH and AADC resulted in better behavioral recovery compared with TH alone. Another strategy for gene therapy of PD is the protection of dopaminergic neurons in the substantia nigra using an AAV vector containing a glial cell line-derived neurotrophic factor (GDNF) gene. Combination of dopamine-supplement gene therapy and GDNF gene therapy would be a logical approach to the treatment of PD.


Assuntos
Dependovirus/genética , Terapia Genética/métodos , Vetores Genéticos , Doença de Parkinson/terapia , Animais , Técnicas de Transferência de Genes , Humanos
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