Clinical characteristics and surgical outcomes of school-age pediatric monocular retinal detachment / 国际眼科杂志(Guoji Yanke Zazhi)

AIM:To evaluate the underlying aetiology and clinical characteristics of retinal detachment(RD)in school-age pediatric monocular RD.METHODS:Patients with RD and contralateral blind(monocular RD)aged 7-14 years, from November 2015 to May 2021 in our hospital were retrospectively reviewed. Demographic characteristics and etiology of RD, clinical type, surgical modality, type of intraocular tamponade, pre-and postoperative visual and anatomical outcomes were recorded and evaluated.RESULTS: There were 27 children(27 eyes)with monocular RD at least 6mo follow-up. The average age at presentation was 10.63±2.30 years. Familial exudative vitreoretinopathy(FEVR)(11/27, 41%), postoperative congenital glaucoma(6/27, 22%)and Stickler syndrome(3/27, 11%)were main underlying etiologies. Among them, rhegmatogenous retinal detachment(RRD)comprised 78%(21/27)of the patients, of which 81% patients(17/21)had proliferative vitreoretinopathy(PVR)C3 or worse. Pars plana vitrectomy(PPV)was done in 85%(23/27)of the patients, of which 83%(19/23)received silicone oil tamponade. Best corrected visual acuity(BCVA, LogMAR)worse than 1.7 was seen in 78%(21/27)of the patients at final visit, and 82%(22/27)had reattached retina, but 41%(11/27)of the patients remained status of silicone oil tamponade at last visit.CONCLUSION:School-age pediatric monocular RD is often associated with underlying congenital or hereditary conditions, and often presented with severe RD and severe PVR reaction which needed vitrectomy combined with silicon oil tamponade, and with poor visual and anatomical short-term prognosis.

Clinical assessment of 25G micro-incision vitrectomy for treatment of intraocular foreign bodies / 眼科新进展

Objective To investigate the clinical efficacy of 25G minimally invasive vitrectomy for the removal of foreign bodies in the posterior segment of the ball.Methods The clinical data of 21 patients (21 eyes) with intraocular foreign bodies who underwent 25G minimally invasive vitrectomy combined with intrabulbar foreign body removal were retrospectively analyzed,including magnetic foreign bodies in 17 patients and non-magnetic foreign bodies in 4 patients.All the patients had cataract and vitreous hemorrhage,with 3 patients (3 eyes) suffering secondary endophthalmitis,and 12 patients (12 eyes) suffering secondary retinal detachment.Cataract extraction,retinal reattachment and silicone oil tamponade were combined according to different conditions,and the complications and surgical outcomes were analyzed for 6-month followup.Results All patients received preoperative examinations,immediately following implementation of 25G minimally invasive vitrectomy and intrabulbar foreign body removal procedures.The removal rate of foreign bodies in phase Ⅰ was 100％.All the endophthalmitis and retinal detachment were cured before operation.The turbid lens was removed during operation from the corneal incision in 20 patients (20 eyes),and from a scleral incision in 1 patient after cataract extraction.A total of 19 eyes had better postoperative visual acuity than preoperative vision,14 eyes underwent phase Ⅱ intraocular lens implantation,and silicone oil was retained in 2 eyes.No postoperative complications related to minimally invasive surgery occurred.Conclusion 25G minimally invasive vitrectomy has good clinical outcomes in the removal of intraocular foreign bodies in the posterior segment of the eye,with minimal surgical trauma,rapid visual function recovery,and fewer complications,but great attention should be paid to its indications.

Genetic analysis of Mulao nationality using 15 short tandem repeats / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the genetic polymorphism of 15 short tandem repeats (STR)(D2S1338, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D19S433, D21S11, CSF1PO, TPOX, TH01, vWA, FGA) in Mulao nationality of Guangxi province, and to explore genetic relationship between Mulao nationality and other 10 nationalities.</p><p><b>METHODS</b>The allelic frequencies and the genotype of 15 STR loci were generated from 183 unrelated individuals in Mulao nationality and other 10 nationalities of Guangxi by PCR-STR and genescan. Phylogenetic tree were constracted neighbor-Joining method.</p><p><b>RESULTS</b>There were 136 STR alleles and 422 genotypes in the 15 STR of Mulao nationality, with its allele frequencies ranging from 0.0027 to 0.5243. The average heterozygosity was 0.7632, the accumulative discrimination power was more than 0.999 999 999 9, and the probability of paternity exclusion was more than 0.999 998 469 8. The genetic distances between Mulao nationality and other minority of Guangxi were much closer than those between Mulao nationality and Han nationality and Uighur nationlity.</p><p><b>CONCLUSION</b>The 15 STR loci of Mulao nationality in Guangxi possesses the characteristics of high genetic diversity, except the TPOX locus. They can be employed in group genetic investigation, individual and paternity test in forensic medicine. The genetic distances between Mulao nationality and other minority of Guangxi are more closer than those between Mulao nationality and Han nationality and Uighur nationality.</p>

Polymorphism of fifteen short tandem repeat loci in Maonan minority of Guangxi / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the genetic polymorphism of 15 short tandem repeat (STR) (D2S1338ì D3S1358ì D5S818ì D7S820, D8S1179, D13S317, D16S539, D18S51, D19S433, D21S11, CSF1PO, TPOX, TH01, vWA, FGA) in Maonan minority of Guangxi province.</p><p><b>METHODS</b>The allele frequencies and the genotype of 15 STR loci were analyzed in 143 unrelated individuals in Maonan minority of Guangxi by PCR-STR and genescan.</p><p><b>RESULTS</b>There were 130 STR alleles and 390 genotypes in the 15 STR of Maonan minority, with allele frequencies ranging from 0.0035 to 0.5385. The average heterozygosity was 0.7697, the discrimination power was higher than 0.8 except for that of TPOX, the accumulative discrimination power was more than 0.999999999, and the probability of paternity exclusion was more than 0.99999918.</p><p><b>CONCLUSION</b>The 15 STR loci of Maonan minority in Guangxi possesses the characteristics of high genetic diversity, except for the TPOX locus. They can be employed in minority genetics investigation, individual and paternity test in forensic medicine.</p>

Genetic polymorphism of 6 short-tandem repeat loci in Miao minority group of Rongshui county in Guangxi province / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the distributions of six short-tandem repeat (STR) loci, namely D7S820, D13S317, D16S539, HUMCSF1PO, HUMTPOX and HUMTH01, in Miao minority group at Rongshui county in Guangxi province and construct the relevant genetic database.</p><p><b>METHODS</b>Sodium-citrated blood specimens were collected from 208 healthy unrelated Miao individuals in Rongshui county. The DNAs from the specimens were extracted with phenol-chloroform method; AmplFSTR Identifier PCR Amplification Kit was used to amplify the extracted DNAs, and 3100 Genetic Analyzer was used to analyze and screen the amplified products.</p><p><b>RESULTS</b>In this study, 7, 8, 6, 7, 5, 7 alleles were observed at the 6 STR loci respectively. The expected distribution of genotype accorded with Hardy-Weinbery equilibrium. The total discrimination power, cumulative paternity exclusion power and total polymorphism information were 0.999995, 0.9959 and 0.9987 respectively.</p><p><b>CONCLUSION</b>The results demonstrate that these 6 STR loci are of high polymorphism and hereditary stability and are in accord with Mendel's law. The data obtained are valuable in population genetics research, forensic application, and individual identifications.</p>

Value of Seeking Tumor Cells Through Cerebrospinal Fluid in Retinoblastoma / 实用儿科临床杂志

Objective To explore the value of seeking tumor cells through cerebrospinal fluid in the metastasis and prognosis of retinoblastoma.Methods Two hundred and fifty-six cases clinic diagnosed retinoblastoma were collected,154 cases were boys and 102 cases were girls.There were 85 children with bilateral disease and 171 children with unilateral disease.Lumbar puncture was examined before treatment,compare the result and prognosis.Children who were found tumor cells in their cerebrospinal fluid were treated with 6 to 9 cycles of systemic chemotherapy with CTV(carboplatin,teniposide and vincristine)protocol and 8 to 10 intrathecal injections with cytrarabine,methotrexate and dexametha-sone.Follow-up were between 8 to 23 months,the mean time was 14.6 months.Results There were 8 cases found tumor cells in their cerebrospinal fluid in all 256 children,one of them died of wide spread intracranial metastasis;the other patient was given high dose chemotherapy with autologous perip-heral stem cell transplantation(APBSCT) because of intracranial metastasis,follow-up to now the patient′s condition was stable.The rest 6 children were enucleated in follow-up period,there were 4 cases(67%) with the histopathology of the eye indicates spread of tumour cells beyond the lamina cribrosa,and 2 cases with invading the cut end of the optic nerve.Six children were no metabasis evidences at other tissues.Conclusions Intracranial metastasis is the common metastasis style in retinoblastoma,so lumbar puncture to seeking tumor cells was important to evaluate intracranial metastasis,early treatment and prognosis.