Health-related quality of life and binocular vision in patients with diplopia in acute-onset comitant esotropia with press-on prism improves / 国际眼科杂志(Guoji Yanke Zazhi)

AIM:To assess the effect of press-on prisms in patients with acute-onset comitant esotropia and diplopia,focusing primarily on vision-related quality of life and binocular vision.METHODS:Retrospective case-series study.Totally 16 acute-onset comitant esotropia patients with diplopia who received treatment in the Huzhou Central Hospital were included in this study from March 2014 to March 2017.Vision-related quality of life before press-on prism correction and 1mo after press-on prism correction were performed with the Chinese version of the 25-item National Eye Institute Visual Functioning Questionnaire (CHI-NEI-VFQ-25).In each time of follow-up,we made a minute examination,includes worth four dot test and stereo tests.Data was statistically analyzed with paired sample t test,Chi-square test and Fisher's exact test.RESULTS:Except the degree of eye pain,color vision and perimetry,the indicators from CHI-NEI-VFQ-25 table including general health status,overall vision,mental health,social role difficulties,social functional,near activities,distant activities,independency and driving of acute-onset comitant esotropia patients with diplopia were obviously significant improved 1 mo after press-on prism correction (P＜0.05).One month after press-on prism correction,the fusion function and stereo acuity were significant enhanced (P＜0.05).CONCLUSION:Press-on prism correction may be helpful for binocular vision recovery in acute-onset comitant esotropia patients with diplopia,so as improve the vision-related quality of life.

[Mechanism underlying spatial vision deficit of monocular amblyopia based on the theory of Magnocellular and Parvocellular (M-P) pathways].

OBJECTIVE: To investigate the relationship between the characteristics of spatial vision deficit and the degree of amblyopia in monocular amblyopes, and to analyze its mechanism with the theory of Magnocellular and Parvocellular pathways. METHODS: One hundred and eleven patients with monocular amblyopes aged 7-34 were included in this study. Distance best corrected visual acuity (BCVA) in logMAR units and contrast sensitivity function test were performed on both eyes in all patients with ETDRS digital visual chart and functional test system OPTECR 6500. The spatial vision of amblyopic and non-amblyopic eyes was evaluated by the AULCSF, Smax, Frmax and cutSF derived from the curve of contrast sensitivity function. RESULTS: The degree of amblyopia was significantly correlated with the difference of AULCSF between the amblyopic and non-amblyopia eyes (r=-0.83, P<0.01). BCVA of amblyopic eyes was significantly correlated with AULCSF, CutSF, Smax, Frmax(r=-0.68, -0.80, -0.73, -0.56, respectively; P<0.01). In amblyopic eyes, significant difference in BCVA, AULCSF, Smax, Frmax and CutSF was seen among different amblyopic groups (P<0.01), which was defined by the degree of amblyopia. In non-amblyopic eyes,no significant difference in BCVA, AULCSF, Smax, Frmax and CutSF was noted among different amblyopic groups (P>0.05). In mild amblyopes, no significant difference in AULCSF and Frmax was found between the amblyopic eyes and non-amblyopic eyes (P>0.05), while Smax and CutSF were significantly different. However, in moderate and severe amblyopes, significant differences in BCVA, AULCSF, Smax, Frmax and CutSF was seen between the amblyopic and non-amblyopic eyes (P<0.01). In amblyopic eyes, significant difference in contrast sensitivity was noted in all kinds of spatial frequencies among different amblyopic groups (P<0.01), and in non-amblyopic eyes, significant differences in contrast sensitivity was not seen in all kinds of spatial frequencies among different amblyopic groups. CONCLUSIONS: The AULCSF, CutSF, Smax and Frmax are accorded with visual acuity for evaluation of the spatial vision of amblyopia. As the severity of amblyopia increases, the overall function of spatial vision in amblyopic eyes gradually decreases, the resolution ability of high spatial frequency is gradually weaken, the peak of contrast detection function gradually descends, and the optimal spatial frequency for contrast detection offsets toward low level of spatial frequency. Mild monocular amblyopia produces spatial contrast sensitivity loss in high spatial vision, suggesting there may be decreased sensitivity of the Parvocellular pathway, and no significant anomalous processing of Magnocellular Pathway. Whereas, in moderate and severe amblyopes, a generalized loss of sensitivity is observed at each spatial frequency. This result shows that both Magnocellular and Parvocellular pathways are damaged in different degrees, especially in Parvocellular pathway.

Identification of a novel frameshift mutation in PITX2 gene in a Chinese family with Axenfeld-Rieger syndrome.

OBJECTIVE: Axenfeld-Rieger syndrome (ARS) is phenotypically and genetically heterogeneous. In this study, we identified the underlying genetic defect in a Chinese family with ARS. METHODS: A detailed family history and clinical data were recorded. The ocular phenotype was documented using slit-lamp photography and systemic anomalies were also documented where available. The genomic DNA was extracted from peripheral blood leukocytes. All coding exons and intron-exon junctions of paired-like homeodomain transcription factor 2 (PITX2) gene and the forkhead box C1 (FOXC1) gene were amplified by polymerase chain reaction (PCR) and screened for mutation by direct DNA sequencing. Variations detected in exon 5 of PITX2 were further evaluated with cloning sequencing. The exon 5 of PITX2 was also sequenced in 100 healthy controls, unrelated to the family, for comparison. Structural models of the wild type and mutant homeodomain of PITX2 were investigated by SWISS-MODEL. RESULTS: Affected individuals exhibited variable ocular phenotypes, whereas the systemic anomalies were similar. After direct sequencing and cloning sequencing, a heterozygous deletion/insertion mutation c.198_201delinsTTTCT (p.M66Ifs*133) was revealed in exon 5 of PITX2. This mutation co-segregated with all affected individuals in the family and was not found either in unaffected family members or in 100 unrelated controls. CONCLUSIONS: We detected a novel frameshift mutation p.M66Ifs*133 in PITX2 in a Chinese family with ARS. Although PITX2 mutations and polymorphisms have been reported from various ethnic groups, we report for the first time the identification of a novel deletion/insertion mutation that causes frameshift mutation in the homeodomain of PITX2 protein.

Anisometropia magnitude and visual deficits in previously untreated anisometropic amblyopia.

AIM: To assess the quantitative association between anisometropia magnitude and the losses of resolution and contrast sensitivity; and to exemplify how the function of fusion and stereopsis vary with anisometropia magnitude (AM) in previously untreated anisometropic amblyopes. METHODS: A total of 57 patients with previously untreated anisometropic amblyopia without strabismus (range: 8-35 years), were measured refractive error, best corrected visual acuity (BCVA), fusion and stereopsis, and 48 patients have completed contrast sensitivity function test. AM was determined by dioptric vector addition model, and the amblyopia depth was determined by the difference of BCVA in logMAR units between the amblyopic and fellow eyes. RESULTS: AM was significantly correlated with both amblyopia depth (Pearson R=0.728, P<0.001) and the inter-ocular difference of the area under the log contrast sensitivity function (AULCSF) (R=0.505, P<0.001). Depth of amblyopia and the inter-ocular difference of AULCSF was also significantly correlated (R=0.761, P<0.001). The more severity of amblyopia, the poorer levels of contrast sensitivity. Most pure anisometropes with AM was less than 3.0D retain fusion and some stereopsis, but when AM were more than 3.0D, especially for the anisometropes whose AM was more than 6.0D, fusion and stereopsis function were seriously impaired. CONCLUSION: In the patients with previously untreated anisometropia amblyopia, higher degree of anisometropia is significantly associated with deeper amblyopia, worse contrast sensitivity, fusion and stereopsis functions.

[Study of the visual deficits pattern in strabismic and anisometropic amblyopia].

OBJECTIVE: To elucidate the difference in the pathogenesis between strabismic and anisometropic amblyopia. METHODS: It was a case-control study.We used psychophysical methods, including grating acuity, edge contrast sensitivity, contrast sensitivity function tests, and examined the visual functions of 150 cases from 8 to 40-year-old. Then we applied the Origin 8.0 software for statistical analysis of experimental data, we did the correlation analysis between the grating acuity, edge contrast sensitivity and optotype acuity, and the similarity comparison of the contrast sensitivity function curve between the strabismic and anisometropic amblyopia. RESULTS: The grating acuity had a strong correlation with optotype acuity, the correlation value was 0.81. The grating acuity of the strabismic group was roughly 15% lower than the whole abnormal population, for any given level of optotype acuity; the edge contrast threshold had a weak correlation with optotype acuity, the correlation value was 0.24. Anisometropia, for a given level of optotype acuity, had edge contrast thresholds that were 15% higher (worse) than the whole population, while strabismic and strabismic-anisometropia had edge contrast thresholds that are 17% lower (better) than the whole population. The CSF of all amblyopic eyes were reduced in comparison with the non-amblyopic eye of the same person, the peak sensitivity shifted toward to the low spatial frequency region, the CS curve was depressed especially in the middle and high spatial frequencies, there were no significant difference, but at low frequency area(1.0 c/d) there were statistically significant between the two types of amblyopia(t = 2.239, P < 0.05). CONCLUSION: There were differences in the patterns of visual loss between strabismic and anisometropic amblyopic patients.

Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus.

OBJECTIVE: To screen mutations in FERM domain-containing protein 7 (FRMD7) gene in two Chinese families with X-linked idiopathic congenital nystagmus (XLICN). METHODS: Common ophthalmic data and peripheral blood of two Chinese XLICN families (families A and B) were collected after informed consent. Genomic DNA was prepared from the peripheral blood of members of the two families and from 100 normal controls. Mutations in the FRMD7 gene were determined by directly sequencing polymerase chain reaction (PCR) products. RESULTS: We identified a novel mutation c.980_983delATTA compound with c.986C>A mutation in the 11th exon of FRMD7 in family B, and a previously reported splicing mutation c.781C>G (p.R261G) [corrected] in family A. The mutations were detected in patients and female carriers, while they were absent in other relatives or in the 100 normal controls. CONCLUSIONS: Our results expand the spectrum of FRMD7 mutations in association with XLICN, and further confirm that the mutations of FRMD7 are the underlying molecular mechanism for XLICN.

Harmonic scalpel versus conventional resection in thyroid surgery: a meta analysis on the safety outcomes / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To compare the safety between harmonic scalpel and conventional resection in total or near total thyroidectomy with meta-analysis.</p><p><b>METHODS</b>The prospective randomized controlled studies were searched for in electronic databases (MEDLINE, EMBASE, Cochrane Library). Meta analysis of acquired data was performed through the use of RevMan 5.2 software.</p><p><b>RESULTS</b>According to the inclusion criterion, 13 articles were enrolled which compared on the safety between harmonic scalpel and conventional resection in thyroid surgery. A total of 1620 patients with thyroid tumor were enrolled, including 802 patients in harmonic scalpel group and 818 patients in conventional resection group. Compared with conventional resection group, the harmonic scalpel group showed shorter time of surgery, the weighted mean difference (WMD) and their 95% confidence interval (95%CI) was -21.06[-25.65, -16.47], Z = 8.99, P < 0.00001; less intra-operative blood loss, WMD and 95%CI was -14.36[-20.67, -8.06], Z = 4.46, P < 0.00001; less post-operative drain output (WMD and 95%CI was -7.47[-11.35, -3.58], Z = 3.77, P = 0.0002); less hospitalization charges (WMD and 95%CI was -117.97[-131.65, -104.29], Z = 16.90, P < 0.00001). The incidence of postoperative transient recurrent laryngeal nerve dysfunction and transient hypocalcemia were similar in both groups.</p><p><b>CONCLUSION</b>Using the harmonic scalpel in thyroid surgery was as safe as that of the conventional technique with the advantage of shorter time of surgery, less intraoperative blood loss and less postoperative drain output.</p>

Progression of solitary and multifocal papillary thyroid carcinoma - a retrospective study of 368 patients / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Papillary thyroid carcinoma (PTC) represents one of the most frequent endocrine malignancies. Several factors have been found to be involved in determining the outcome of treatment for patients with PTC. Large tumor size, diagnosis at an early age, extra-thyroidal invasion, aggressive histological variants, and distant metastases are the most important determinants of a poor outcome. BRAF(V600E) mutation has been found to be a major genetic alteration in PTC. This study aimed to evaluate progression in patients with multifocal and solitary PTC.</p><p><b>METHODS</b>We performed a retrospective study to analyze 368 patients with PTC who underwent surgery, including 282 patients with solitary PTC and 86 patients with multifocal PTC. The status of BRAF(V600E) mutation in all tumor foci from multifocal PTC was detected.</p><p><b>RESULTS</b>Our study suggested that multifocal PTC was more related to lymph node metastasis and vascular invasion than solitary PTC. However, the distant metastasis rate and 10-year survival rate showed no difference between these two groups. The number of tumor foci did not affect progression of disease in multifocal PTC patients. Lymph node metastasis in multifocal PTC patients was associated with larger tumors, diagnosis at early stage, and extra-thyroidal invasion.</p><p><b>CONCLUSION</b>The status of BRAF(V600E) mutation was more frequent in multifocal PTC patients with lymph node metastasis and diagnosis at later age.</p>

Analysis of variation trends of thyroid cancer treated in Tianjin Cancer Hospital form 1954 to 2009 / 中华肿瘤杂志

<p><b>OBJECTIVE</b>To investigate and analyze the variation trends in the pathological composition of thyroid cancer patients treated in Tianjin Cancer Hospital from 1954 to 2009.</p><p><b>METHODS</b>To retrospectively analyze the incidence and clinical features of different pathological types of thyroid cancers in 4342 patients between different time periods from 1954 to 2009.</p><p><b>RESULTS</b>In the four main pathological types of thyroid cancers, the component ratio of papillary thyroid cancer in every period was 68.1%, 78.3%, 81.3%, 82.1%, 85.8%, respectively, while the morbidity of patients with papillary thyroid carcinoma concurrent with Hashimoto's thyroiditis was increased, so was the proportion of tumors in diameter < or = 2 cm. The proportion of follicular thyroid carcinoma and anaplastic thyroid carcinoma was decreasing accordingly; however, the proportion of medullary thyroid carcinoma did not change significantly.</p><p><b>CONCLUSIONS</b>The pathological classification of the thyroid carcinoma patients has significant changes in the 4342 cases treated in our Hospital from 1954 to 2009. The proportion of papillary carcinoma is increased, while that of follicular carcinoma and anaplastic carcinoma is decreased. The reasons might attribute to the improved level of consultations and iodized diet or other factors.</p>

Biological characteristics and management of familial papillary thyroid carcinoma / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To analyze the clinical biological characteristics and investigate the managements of familial papillary thyroid carcinoma (FPTC).</p><p><b>METHODS</b>Clinical data of 36 patients with PTC from 15 families were retrospectively analyzed compared with 95 control cases taken randomly from the patients with sporadic PTC diagnosed and treated in Tianjin Cancer Hospital between January 2010 and August 2011.</p><p><b>RESULTS</b>Of the 36 patients with FPTC, 15 (41.7%) were ≥45 years old, 12 (33.3%) had bilateral carcinoma, 20 (55.6%) were multifocality, 27 (75.0%) had neck lymph node metastases, 17 (47.2%) coexisted thyroid benign tumors. Of the 95 patients with SPTC, 60 (63.2%) were ≥45 years old, 12(12.6%)had bilateral carcinomas, 21 (22.1%) were multifocality, 51 (53.7%) had neck lymph node metastases, and 26(27.4%)coexisted thyroid benign tumors. Of the 36 patients with FPTC, 22 (61.1%) underwent total thyroidectomy and 14 (38.9%) with unilateral thyroidectomy plus isthmusectomy, 3 (8.3%) received unilateral or bilateral lateral neck dissection and central compartment neck dissection (CND), 7 (19.4%) received unilateral or bilateral posterolateral neck dissection and CND, 6 (16.6%) received posterolateral neck dissection and bilateral CND, and 20 (55.6%) received unilateral or bilateral CND.</p><p><b>CONCLUSIONS</b>Age at disease presentation of FPTC was younger than that of SPTC. FPTC has higher rates of multifocality and bilateral carcinoma coexisting with thyroid benign tumor than those of SPTC. It necessary to take family history in detail and to evaluate diseases before operation.</p>