Biomedical subjects

Z J He

Publications and source records attributed to Z J He.

6 recordsLinked to original sources

PubMed2026

[Analysis of clinical spectrum and genotype characteristics of 9 cases of Fabry disease].

Objective: To investigate the genetic characteristics and clinical phenotypes across different genotypes in patients with Fabry disease. Methods: Clinical data of 9 confirmed FD patients treated from June 2019 to December 2025 at the Affiliated Huai'an No.1 people's Hospital of Nanjing Medical University were retrospectively analyzed. The diagnostic criteria for FD included α-galactosidase A (α-GalA) activity, GLA gene sequencing, globotriaosylsphingosine levels, and renal biopsy findings, supplemented by clinical symptoms and signs. Genetic testing was performed on both the proband and their family members. Proband underwent next-generation sequencing of the GLA gene using the long-range PCR. Family members were verified by conventional PCR combined with Sanger sequencing. Variants were classified according to the 2015 American College of Medical Genetics and Genomics guidelines for sequence variation interpretation. Results: Of the 9 patients, 4 were males and 5 were females. The mean α-Gal A activity was (0.47±0.13) μmol·L-1·h-1 in males and (2.38±0.91) μmol·L-1·h-1 in females. The mean age at diagnosis was (43.0±16.7) years. The main clinical manifestations included renal impairment in 7 cases (proteinuria, chronic kidney disease, or end-stage renal disease), cardiac involvement in 8 cases (myocardial hypertrophy, arrhythmia, etc.), and autonomic nervous system symptoms in 6 cases (hypohidrosis). Pathogenic or likely pathogenic GLA variants were identified in all 9 patients, of which 8 were classified as pathogenic and 1 as a variant of uncertain significance. Three patients underwent family screening: in one case, the variant was possibly inherited from the maternal grandmother; one case was confirmed as a de novo mutation; and in one case, paternal inheritance could not be excluded. Renal biopsy in one patient revealed characteristic myeloid bodies and zebra bodies. Among the 9 patients, 1 received agalsidase α and 8 received agalsidase β, with one case developing infusion-associated reactions after 12 infusions. During the follow-up period, one patient died due to cardiac complications. Conclusions: FD patients exhibit a broad clinical spectrum and diverse genotypes. Atypical presentations should be closely monitored to enable early diagnosis and treatment, thereby improving prognosis.

Humans↗

PubMed1992

Surfaces versus features in visual search.

Often implicit in the interpretation of visual search tasks is the assumption that the detection of targets is determined by the feature-coding properties of low-level visual processing. But higher level processes have also been implicated as visual search ability is enhanced in a depth plane or when two-dimensional shapes are interpreted as three-dimensional forms. Here we manipulate binocular disparity to degrade visual search, so that otherwise identical features become parts of surfaces through perceptual completion, rendering them less clearly distinguishable as targets and distractors. Our results indicate that visual search has little or no access to the processing level of feature extraction but must have as an input a higher level process of surface representation.

Humans↗

PubMed1992

Spectral sensitivity of monocularly deprived cats.

The reports of rod-dominated psychophysical spectral sensitivity from the deprived eye of monocularly lid-sutured (MD) monkeys are intriguing but difficult to reconcile with the absence of any reported deprivation effects in retina. As most studies of MD retina have been from cat, we have examined psychophysically the increment threshold spectral sensitivity of MD cats using both reaction time and simultaneous two-choice behavioral procedures. Although the deprived eyes exhibited an absolute increment threshold sensitivity deficit, both rod and cone spectral sensitivity functions were obtained on large white backgrounds. This normal transition from rod to cone vision, as background luminance increased, was also found in threshold vs. intensity functions. Using their deprived eye, some cats exhibited a rod spectral sensitivity function when a smaller, normally photopic, background was used providing some support for a hypothesis that the rod-dominated spectral sensitivity observed in monkey may represent detection of scattered stimulus light. Alternatively monocular deprivation may reveal a rod-dominated mechanism which exists in monkey but not in cat.

Animals↗

PubMed1991

Luminance sensitivity recovers quickly in monocularly deprived cats.

We measured increment thresholds, using a reaction time or two-choice behavioral technique, in three cats monocularly deprived of normal vision for 14-16 months. Luminance increment thresholds could be obtained as early as nine days after lid opening and improved by 0.5-2.0 log units over the next few weeks. Also, visual reaction times decreased during the sensitivity improvement. When compared to the data for grating discrimination, these results suggest that visual recovery from monocular deprivation may proceed at different rates for different psychophysical discriminations.

Animals↗

PubMed1991

[The qualitative and quantitative diagnostic significance of P-VEP in the evaluation of glaucomatous visual function damage].

The pattern visual evoked potential (P-VEP) and the central visual field in 63 cases (95 eyes) of primary glaucoma were simultaneously measured with the American Compact Four electrophysiology apparatus and the Chinese TBC-IA central field analyzer. The data showed that the mean latency of P1 in the glaucomatous eyes was significantly lengthened, and this occurred before the visual field and disk abnormalities, indicating that VEP is sensitive in the detection of early glaucoma. Furthermore, the VEP changes were consistent with the central visual field defects qualitatively and quantitatively. Therefore, the latency of P1 can be a useful quantitative index in the evaluation of glaucomatous visual function damage. The difference in diagnostic sensitivity to glaucoma between VEP and visual field changes were discussed. The authors suggest that combination of the two may be a more useful index.

Adult↗

PubMed1990

Peripheral field stimulation affects foveal flicker, but not color, sensitivity.

Human observers have different thresholds for flicker detection and color detection of a rapidly flickering spectral stimulus presented on a steady white background. A flickering surround, which did not overlap the stimulus or background, reduced flicker sensitivity but not color sensitivity for both monocular and binocular viewing. However, a flickering surround presented to one eye had no influence upon either color or flicker thresholds of the other eye.

Adult↗