[Genotype-phenotype analysis of Fabry disease caused by GLA gene variation in a pedigree].

Objective: To investigate the clinical phenotype and genetic characteristics of patients with Fabry disease caused by a GLA variant, IVS4+919G>A. Methods: It was a prospective study. Fabry disease screening was conducted among high-risk population in Ninghai from October 2021 to August 2023. Those children with decreased α-galactosidase enzyme activity<2.40 µmol/(L·h) or elavated Lyso-GL-3 level>1.10 µg/L in dried blood spot (DBS) method underwent GLA genetic testing for diagnosis confirmation. Meanwhile, family screening was carried out. A proband and his family members diagnosed with Fabry disease were research subjects. The clinical and genetic characteristics of patients with Fabry disease caused by the GLA variant (IVS4+919G>A) were analyzed. Results: The female proband aged 9.8 years with pain in both lower limbs as the initial symptom was found to have a heterozygous GLA variant IVS4+919G>A among 102 patients. In family screening, there were 4 family members (proband's father, elder sister, elder male cousin and elder female cousin) with Fabry disease and a family member (proband's fifth aunt) with a GLA variant. Among these 4 diagnosed family members, the elder male cousin of the proband, a boy aged 13.2 years had a heterozygous GLA variant, IVS4+919G>A with intermittent pain in both lower limbs as the initial symptom. The proband's father had knee joint pain. The proband's elder sister had decreased vision and his elder female cousin had no obvious symptoms. The proband's fifth aunt with a GLA variant had decreased vision. Conclusions: High-risk screening in children and family screening are helpful for early diagnosis and treatment of Fabry disease. Neuropathic pain may be a early symptom in children with Fabry disease caused by the GLA variant, IVS4+919G>A.

Idiopathic macular holes and direction of vitreomacular traction: structural changes and surgical outcomes.

PurposeTo compare the structural changes, clinical course, and treatment outcomes of vertical and horizontal vitreomacular traction (VMT) induced impending macular holes (IMHs) and full-thickness macular holes (FTMHs).MethodsIn this retrospective study, 23 and 32 cases of IMHs and FTMHs, respectively, were analyzed. The IMH cases were divided into two subgroups: IMH with and without foveal detachment. Vitreofoveal traction angles (TAs) between the inner retinal surface and posterior hyaloid were measured from horizontal and vertical optical coherence tomography (OCT) images by using the trigonometric function (the angle equals the arctangent of the height over the base) after adjustments for magnification factors. The largest angle was defined as the vitreomacular TA for the examined case. The critical angle-the TA differentiating cases with (vertical traction) or without (horizontal traction) foveal detachment (vertical traction)-was determined using regression analysis. Pretreatment and posttreatment OCT images, clinical courses, and treatment outcomes were compared between the two groups.ResultsThe critical angle was 27.2°. Cases of vertical traction had higher foveal height in the IMH group and wider bases in the FTMH group (P<0.05 respectively). IMHs with vertical traction had greater VM attachment than those with horizontal traction. In the FTMH group, postoperative visual improvement was lower (P=0.002); in the vertical traction group, inner segment:outer segment defects persisted longer (P=0.02).ConclusionsThe critical angle separating vertical from horizontal traction was 27.2°. Vertical VMT results in greater foveal structural changes in IMHs and possibly less favorable surgical outcomes in FTMHs.

Incidence and risk factors for cystoid macular edema following scleral buckling.

PurposeTo investigate the incidence of cystoid macular edema (CME) after scleral buckling (SB) and verify the possible risk factors of CME.MethodsA retrospective, non-comparative, interventional case series study was conducted. Clinical charts of 130 consecutive patients who were underwent successful SB for primary retinal detachment (RD) from 2009 to 2013 were reviewed. Optical coherence tomography (OCT) was applied to detect CME. Data pertaining to patient demographics, pre- and postoperative visual acuity, surgical procedures, and postoperative OCT findings were recorded. Factors associated with CME were also analyzed.ResultsThe incidence of CME was 9/130 (6.9%). Risk factors for developing CME were older age (non-CME vs CME: 44.8±14.8 vs 57.3±5.3 years, P<0.05), more extensive RD (RD extent by clock hours; non-CME vs CME: 4.61±1.57 vs 5.78±1.39, P<0.05), macular detachment (non-CME vs CME: 51.2 vs 88.9%, P<0.05), and external drainage (non-CME vs CME: 38.8% vs 77.8%, P<0.05). There was no significant difference between patient with and without CME regarding the use of gas tamponade and the lens status. In patients with more extensive RD (macular detachment plus RD of more than 3 clock hours before surgery), 8 of 68 patients had CME after SB and only older age and external drainage factors were associated with CME.ConclusionsThe risk factors associated with CME after SB were older age, more extended RD, macular detachment, and external drainage. External drainage should be used with caution in older patients with more extensive RD.

Auditory learning and adaptation after cochlear implantation: a preliminary study of discrimination and labeling of vowel sounds by cochlear implant users.

This study examined two possible reasons underlying longitudinal increases in vowel identification by cochlear implant users: improved labeling of vowel sounds and improved electrode discrimination. The Multidimensional Phoneme Identification (MPI) model was used to obtain ceiling estimates of vowel identification for each subject, given his/her electrode discrimination skills. Vowel identification scores were initially lower than the ceiling estimates, but they gradually approached them over the first few months post-implant. Taken together, the present results suggest that improved labeling is the main mechanism explaining post-implant increases in vowel identification.

Polarography of lead itaconate complexes.

The complexation of lead ions with itaconic acid (H(2) A) has been studied polarographically at 30 degrees . At pH < pK(1), the complex species Pb(HA)(+) was identified. At pK(1) < pH < pK(2) and pH > pK(2) the formation of Pb(A) and Pb(A)(2)(2-) respectively, was confirmed. The dissociation constant of Pb(A)(2)(2-) was found to be 8.3 x 10(-5). The electrode reactions were established.