●AIM:To study the different treatment modalities needed in cases of Duane’s Retraction Syndrome(DRS).●METHODS:This prospective study undergone in more than four years,in Alexandria,included 238 patients of DRS,incl...●AIM:To study the different treatment modalities needed in cases of Duane’s Retraction Syndrome(DRS).●METHODS:This prospective study undergone in more than four years,in Alexandria,included 238 patients of DRS,including type I,162 patients(68%),type II 12 patients(5%)and type III 64 patients(27%).Surgery was indicated in 98(41%)of them,to eliminate abnormal head posture,deviation of the eye in primary position,severe retraction of the globe or cosmetically unacceptable upshoot with attempted adduction.●RESULTS:Type I was the most common and type II was the least.Females were predominant in this study,constituting 125 patients(52.5%),and males 113 patients(47.5%).Left eye was more affected,in 110 patients(46.2%),right eye in 91 patients(38.2%)and bilateral in 37 patients(15.6%).Amblyopia was found in 27 patients(11.3%)and treated in 13 patients under 10 years of age,by patching the normal eye.Ninety-eight patients(41%)were operated,the results were most satisfactory and a nomogram is followed in the surgical plan.●CONCLUSION:The surgical management is needed in less than half of the cases and should be planned for every case individually according to the clinical findings,planned nomogram and modified intraoperatively according to the anatomical findings during surgery.展开更多
The triple A or AIIgrove＇s syndrome is an autosomal recessive disorder characterized by the triad of achalasia cardia, alacrima and ACTH resistant adrenocortical insufficiency. Mutations of the Achalasia-Addisonianis...The triple A or AIIgrove＇s syndrome is an autosomal recessive disorder characterized by the triad of achalasia cardia, alacrima and ACTH resistant adrenocortical insufficiency. Mutations of the Achalasia-AddisonianismAlacrima-Syndrome （AAAS） gene on chromosome 12q13 are associated with this syndrome. We report an Indian family where two siblings were homozygous for a known mutation of the AAAS gene and presented with the classical triad of symptoms. The mother and the brother were heterozygous and asymptomatic. The affected siblings had iron deficiency anemia and the younger sister had pes cavus and palmoplantar keratosis. Neurological symptoms were absent in both affected children. Recognition of this syndrome can lead to early treatment of adrenal insufficency and genetic counselling.展开更多
The regulation of mRNA localization and local translation play vital roles in the maintenance of cellular structure and function.Many human neurodegenerative diseases,such as fragile X syndrome,amyotrophic lateral scl...The regulation of mRNA localization and local translation play vital roles in the maintenance of cellular structure and function.Many human neurodegenerative diseases,such as fragile X syndrome,amyotrophic lateral sclerosis,Alzheimer’s disease,and spinal muscular atrophy,have been characterized by pathological changes in neuronal axons,including abnormal mRNA translation,the loss of protein expression,or abnormal axon transport.Moreover,the same protein and mRNA molecules have been associated with variable functions in different diseases due to differences in their interaction networks.In this review,we briefly examine fragile X syndrome,amyotrophic lateral sclerosis,Alzheimer’s disease,and spinal muscular atrophy,with a focus on disease pathogenesis with regard to local mRNA translation and axon transport,suggesting possible treatment directions.展开更多
文摘●AIM:To study the different treatment modalities needed in cases of Duane’s Retraction Syndrome(DRS).●METHODS:This prospective study undergone in more than four years,in Alexandria,included 238 patients of DRS,including type I,162 patients(68%),type II 12 patients(5%)and type III 64 patients(27%).Surgery was indicated in 98(41%)of them,to eliminate abnormal head posture,deviation of the eye in primary position,severe retraction of the globe or cosmetically unacceptable upshoot with attempted adduction.●RESULTS:Type I was the most common and type II was the least.Females were predominant in this study,constituting 125 patients(52.5%),and males 113 patients(47.5%).Left eye was more affected,in 110 patients(46.2%),right eye in 91 patients(38.2%)and bilateral in 37 patients(15.6%).Amblyopia was found in 27 patients(11.3%)and treated in 13 patients under 10 years of age,by patching the normal eye.Ninety-eight patients(41%)were operated,the results were most satisfactory and a nomogram is followed in the surgical plan.●CONCLUSION:The surgical management is needed in less than half of the cases and should be planned for every case individually according to the clinical findings,planned nomogram and modified intraoperatively according to the anatomical findings during surgery.
文摘The triple A or AIIgrove＇s syndrome is an autosomal recessive disorder characterized by the triad of achalasia cardia, alacrima and ACTH resistant adrenocortical insufficiency. Mutations of the Achalasia-AddisonianismAlacrima-Syndrome （AAAS） gene on chromosome 12q13 are associated with this syndrome. We report an Indian family where two siblings were homozygous for a known mutation of the AAAS gene and presented with the classical triad of symptoms. The mother and the brother were heterozygous and asymptomatic. The affected siblings had iron deficiency anemia and the younger sister had pes cavus and palmoplantar keratosis. Neurological symptoms were absent in both affected children. Recognition of this syndrome can lead to early treatment of adrenal insufficency and genetic counselling.
基金This work was supported by the National Natural Science Foundation of China,Nos.81830036(to GC),81771255(to GC),81771254(to HYL),81971106(to ZQY)Project of Jiangsu Provincial Medical Innovation Team,No.CXTDA2017003(to GC)+2 种基金Jiangsu Provincial Medical Youth Talent,No.QNRC2016728(to HYL)the Natural Science Foundation of Jiangsu Province,No.BK20170363(to HYL)Gusu Health Personnel Training Project,No.GSWS2019030(to HYL)。
文摘The regulation of mRNA localization and local translation play vital roles in the maintenance of cellular structure and function.Many human neurodegenerative diseases,such as fragile X syndrome,amyotrophic lateral sclerosis,Alzheimer’s disease,and spinal muscular atrophy,have been characterized by pathological changes in neuronal axons,including abnormal mRNA translation,the loss of protein expression,or abnormal axon transport.Moreover,the same protein and mRNA molecules have been associated with variable functions in different diseases due to differences in their interaction networks.In this review,we briefly examine fragile X syndrome,amyotrophic lateral sclerosis,Alzheimer’s disease,and spinal muscular atrophy,with a focus on disease pathogenesis with regard to local mRNA translation and axon transport,suggesting possible treatment directions.
