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Biomedical subjects

Z J He

Publications and source records attributed to Z J He.

At least 19 recordsLinked to original sources

[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↗

Distance determined by the angular declination below the horizon.

A biological system is often more efficient when it takes advantage of the regularities in its environment. Like other terrestrial creatures, our spatial sense relies on the regularities associated with the ground surface. A simple, but important, ecological fact is that the field of view of the ground surface extends upwards from near (feet) to infinity (horizon). It forms the basis of a trigonometric relationship wherein the further an object on the ground is, the higher in the field of view it looks, with an object at infinity being seen at the horizon. Here, we provide support for the hypothesis that the visual system uses the angular declination below the horizon for distance judgement. Using a visually directed action task, we found that when the angular declination was increased by binocularly viewing through base-up prisms, the observer underestimated distance. After adapting to the same prisms, however, the observer overestimated distance on prism removal. Most significantly, we show that the distance overestimation as an after-effect of prism adaptation was due to a lowered perceived eye level, which reduced the object's angular declination below the horizon.

Accommodation, Ocular↗

Sequential priming of 3-D perceptual organization.

In four experiments, the effects of sequential priming on the perceptual organization of complex three-dimensional (3-D) displays were examined. Observers were asked to view stereoscopic arrays and to search an embedded subset of items for an odd-colored target while 3-D orientation of the stimuli was varied randomly between trials. Search times decreased reliably when 3-D stimulus orientation was unchanged on consecutive trials, indicating substantial sequential priming by 3-D stimulus layout. The priming was nonsensory and was independent of priming by additional stimulus characteristics. Finally, priming by 3-D layout was unaffected by observers' foreknowledge of display orientation. Results indicate that perceptual organization of 3-D stimuli is guided by a short-term trace of 3-D spatial relationships between stimuli.

Adult↗

Sensory eye dominance.

BACKGROUND: Sensory eye dominance is revealed in tasks like the Red Lens test and binocular rivalry. To understand its neural basis, we used a new protocol based on binocular rivalry to quantify its consequent interocular imbalance. Then we investigated whether the extent or sign of interocular imbalance is correlated with the difference in monocular contrast responses at threshold and suprathreshold and with the observer's motor eye dominance. METHODS: To evaluate sensory eye dominance, the stimulus intensity in each eye during rivalry was adjusted to achieve equal predominance. The difference in stimulus intensity constitutes the interocular imbalance. Standard procedures were used to measure monocular spatial contrast sensitivity, suprathreshold brightness judgment, and motor eye dominance. RESULTS: There was no positive correlation between interocular imbalance (sensory eye dominance) and motor eye dominance. No systematic correlation was found between interocular imbalance and monocular contrast sensitivities at 1 and 3 cycles/degree. Correlation coefficient between interocular imbalance and monocular suprathreshold brightness judgment was close to significant, suggesting that a difference in monocular brightness percept might (in part) account for interocular imbalance. But this explanation is only partial, since the difference in the monocular brightness percept was too small to account for the interocular imbalance. CONCLUSIONS: Interocular imbalance is a sensory eye dominance that cannot be equated with motor eye dominance. It manifests largely as a binocular phenomenon, which bears little relationship with the monocular neural mechanisms of contrast detection and brightness perception.

Adult↗

Perceiving binocular depth with reference to a common surface.

A common surface is a spatial regularity of our terrestrial environment. For instance, we walk on the common ground surface, lay a variety of objects on the table top, and display our favorite paintings on the wall. It has been proposed that the visual system utilizes this regularity as a reference frame for coding objects' distances. Presumably, by treating the common surface as such--i.e. an anticipated constant--the visual system can reduce its coding redundancy, and divert its resources to representing other information. For intermediate-distance space perception, it has been found that absolute distance judgment is most accurate when a common ground surface is available. Here we explored if the common surface also serves as the reference frame for the processing of binocular-disparity information, which is a predominant cue for near-distance space perception. We capitalized on an established observation where the perceived slant of a surface with linear binocular-disparity gradient is underestimated. Clearly, if the visual system utilizes this incorrectly represented slant surface as a reference frame for coding the objects' locations, the perceived depth separation between the objects will be adversely affected. Our results confirm this, by showing that the depth judgment of objects (two laterally separated vertical lines) on, or in the vicinity of, the surface is underestimated. Furthermore, we show that the impact of the common surface on perceived depth separation most likely occurs at the surface-representation level where the visual surface has been explicitly delineated, rather than at the earlier disparity-processing level.

Cues↗

Asymmetry in 3-D perceptual organization: ground-like surface superior to ceiling-like surface.

Attneave (1954) and Barlow (1961) proposed that the visual system might increase efficiency of representation by preferentially encoding spatiotemporally redundant patterns of the external world. The present experiments tested the application of this principle to three-dimensional (3-D) perceptual organization, capitalizing on the ecological constraint that human observers must frequently interact with objects arranged on the ground or on a surface parallel to it (Gibson, 1950). Observers performed a task that required them to perceptually segregate and search multiple items distributed in depth and embedded within a larger, 3-D array of distractors. Stimulus displays were organized to globally recede top-away in depth, as if attached to an underlying ground-like surface, or bottom-away, as if attached to an overhanging ceiling-like surface; ground-like and ceiling-like displays differed only in the direction of disparity gradient within the displays. Primary findings revealed superior performance with ground-like displays, suggesting that spatially and stereoscopically distributed items are more easily organized to represent an ecologically representative pattern, even when no inherent physical regularities favor that pattern.

Adult↗

Apoptosis in acute pancreatitis.

BACKGROUND: Apoptosis may be involved in the mechanism of acinar cell injury in acute experimental pancreatitis. AIM: This study was to investigate whether apoptosis also is involved in human acute pancreatitis. METHOD: A needle biopsy pancreatic specimen was obtained from a patient with acute oedematous pancreatitis. The specimen was stained with In Situ Cell Death Detection Kit. Similar specimen from a patient undergoing pancreatoduodenectomy for bile duct cancer served as a control. RESULTS: Extended acinar cell apoptosis was found in the pancreatitis specimen. No single apoptotic cell was found in the control pancreas. CONCLUSION: Apoptosis probably is involved not only in acute experimental pancreatitis but also in human acute oedematous pancreatitis. The induction and role of apoptosis in pancreatis is discussed based on literature.

Acute Disease↗

Ultrathin cutting needle biopsy histology in the tissue diagnosis of acute pancreatitis--experimental study and application in a human case.

BACKGROUND AND AIMS: This study was to assess whether the tissue obtained with an ultrathin cutting needle, that is as thin as used for aspiration cytology and bacteriology, can give enough material to diagnose acute pancreatitis in rat model and in a human case. METHODS: Wistar rats were randomly allocated into control group (n = 6), cerulein group (n = 6), ligation group (n = 6) and bile salt group (n = 6). In the cerulein, ligation and bile salt groups acute pancreatitis was induced by cerulein intraperitoneal injections, low ligation of common biliopancreatic duct and sodium taurodeoxycholate intraductal injection, respectively. Serum amylase activity was measured and a large cut specimen and two ultrathin needle biopsy specimens were obtained from the pancreas for light microscopic histology. Oedema, acinar cell necrosis, haemorrhage or fat necrosis, and leukocyte infiltration were evaluated semiquantitatively and compared with large cut specimens. RESULTS: The pancreatitis groups revealed different severity in oedema, acinar cell necrosis, haemorrhage or fat necrosis, and leukocyte infiltration. The needle biopsy showed 100% sensitivity and 100% specificity in the diagnosis of acute pancreatitis. The histopathologic scores showed a good and significant correlation between ultrathin biopsy and large cut specimens in all the four histologic parameters, especially in oedema and acinar cell necrosis. A human case is presented, whose percutaneous ultrathin needle biopsy histology was successfully applied for diagnosing acute pancreatitis. CONCLUSIONS: The ultrathin needle biopsy histology can give enough material for the diagnosis of acute pancreatitis. Further studies with ultrasonography guided percutanous or endosonography guided transduodenal technique will be needed to assess the role of tissue sampling in acute pancreatitis.

Acute Disease↗

Binocular rivalry and visual awareness: the role of attention.

When the right eye and the left eye view dissimilar scenes, the observer does not experience a stable superimposed percept of the images presented to the two eyes, but instead perceives an alternation between the images seen by each eye. A critical question confronting this robust and intriguing phenomenon of binocular rivalry is how the visual system selects the image to be perceived (dominant). The current main-stream literature emphasizes a bottom-up explanation in which the rivalry stimulus with the higher contour strength has the advantage, and becomes dominant in rivalry. Nevertheless, some workers in the past have favored an attention-selection explanation for binocular rivalry. We investigated the role of attention in binocular rivalry by employing novel psychophysical paradigms which capitalized on several established phenomena (e.g. the Cheshire Cat effect, attention cueing, pop-out effect). Our results revealed two major aspects of attention modulation in binocular rivalry. We found that a dominant image is less likely to be suppressed when voluntary attention is directed to it. This suggests the role of voluntary attention in retaining the dominant image in visual awareness. Second, a rivalry stimulus is more likely to become dominant if accompanied by a pop-out cue (in the same eye and proximity). Since a pop-out cue attracts involuntary attention to its location/eye, this result suggests that cue-mediated involuntary attention can promote the ability of a rivalry stimulus to reach visual awareness.

Attention↗

Perceptual organization of apparent motion in the Ternus display.

A typical Ternus display has three sequentially presented frames, in which frame 1 consists of three motion tokens, frame 2 (blank) defines the interstimulus interval, and frame 3 has similar motion tokens with their relative positions shifted to the right. Interestingly, what appears to be a seemingly simple arrangement of stimuli can induce one of two distinct apparent-motion percepts in the observer. The first is an element-motion perception where the left-end token is seen to jump over its two neighboring tokens (inner tokens) to the right end of the display. The second is a group-motion perception where the entire display of the three tokens is seen to move to the right. How does the visual system choose between these two apparent-motion perceptions? It is hypothesized that the choice of motion perception is determined in part by the perceptual organization of the motion tokens. Specifically, a group-motion perception is experienced when a strong grouping tendency exists among the motion tokens belonging to the same frame. Conversely, an element-motion perception is experienced when a strong grouping tendency exists between the inner motion tokens in frames 1 and 3 (i.e. the two tokens that overlap in space between frames). We tested this hypothesis by varying the perceptual organization of the motion tokens. Both spatial (form similarity, 3-D proximity, common surface/common region, and occlusion) and temporal (motion priming) factors of perceptual organization were tested. We found that the apparent-motion perception of the Ternus display can be predictably affected, in a manner consistent with the perceptual organization hypothesis.

Analysis of Variance↗

Extrapancreatic organ impairment in caerulein induced pancreatitis.

BACKGROUND AND AIMS: Multiorgan function failures are the major fatal complications in acute pancreatitis. In this experiment, we studied 1) the manifestation and time course of extrapancreatic organ damage in an acute pancreatitis model and 2) whether the obstructive liver damage in this model is caused by the obstruction of common biliopancreatic duct compressed by oedematous pancreas. MATERIAL AND METHODS: 80 male Wistar rats were divided into two groups: control and caerulein groups (five subgroups in each group). In the caerulein group, the acute pancreatitis was induced by caerulein intraperitoneal injections. In the controls equal volume of saline was injected. Two subgroups, one in caerulein and one in control groups, had an intrapancreatic bile duct stent inserted transduodenally before the injections. The pancreas, liver, lung and kidney tissues and blood samples were obtained for the measurement or analysis of interstitial oedema, plasma amylase, alanine aminotransferase, bilirubin, urea, creatinine, alkaline phosphatase, lactate dehydrogenase, blood gas and electron microscopy at 1, 6, 12 and 24 hours after the last injection in unstented animals, and at 6 hours in stented animals. RESULTS: Lungs and kidney remained unchanged. Liver damage was found during the first 6-12 hours, manifest as increased plasma alanine aminotransferase and bilirubin and dilatation of bile canaliculi and hepatocyte damage in electron microscopy. The intrapancreatic bile duct stent did not resolve these changes. CONCLUSIONS: The liver may be the first evolved extrapancreatic organ in the early stage in this mild oedematous pancreatitis model and the hepatocyte damage is not caused by the obstruction of common biliopancreatic duct compressed by the oedematous pancreas.

Animals↗

Extrapancreatic multiorgan injury in a severe sublethal acute pancreatitis model.

In order to develop a new severe but sublethal acute pancreatitis model for the study of clinically relevant extrapancreatic multiorgan injury, we have induced acute pancreatitis in a rat model by intraductal injection with low dose and moderate concentration of bile acid under low pressure. We examined the structural and functional features in the pancreas, lung, liver and kidney. The animals were divided into two groups: the bile acid injection group and the control group. In the bile acid injection group, acute necrotizing pancreatitis was induced by intraductal administration of 0.2 ml of 2.0% bile acid under 30 cm H2O pressure, while the controls underwent the sham operation. The two groups were divided into six subgroups (8 rats for each) and sacrificed at 12, 24, 36, 48, 72 and 144 h, respectively. The pancreatitis induced hyperamylasemia, ascites, pancreatic oedema, haemorrhage, acinar cell necrosis and extensive fat necrosis without early mortality. Accompanied with the pancreatic injury, the function and histologic changes have developed continuously in the kidney and liver for 72 and 144 h in the bile acid injection animals respectively. No pancreatitis associated pulmonary changes were found. Taking into account the results with the two previously developed models of pancreatitis, we conclude that the extrapancreatic injury in acute pancreatitis is found in the liver, kidney and lung, in that order, depending on the severity of pancreatitis. The present sublethal pancreatitis model, in comparison with the two previously studied acute pancreatitis models, is perfect for pathogenetic and therapeutic study of liver and renal changes in acute necrotizing pancreatitis.

Acute Disease↗

Extrapancreatic organ manifestations in a moderately severe acute pancreatitis model.

In order to study the extent of clinically relevant extrapancreatic organ injury in a moderately severe pancreatitis model, we examined the structural and functional features of the pancreas, lung, liver and kidney in a rat model simulating gallstone pancreatitis. The animals were divided into three groups: the low-ligation group, the high-ligation group and the control group, and sacrificed at 6, 24, 42, 60 and 96 h. In the low-ligation group, moderately severe acute pancreatitis was induced by the ligation of the common biliopancreatic duct plus intralipid intragastric injection, while controls underwent the ligation of the bile duct above the pancreas (the high-ligation group) or only sham operation (the control group) with fat injection. The pancreatitis induced hyperamylasemia, pancreatic oedema, haemorrhage, acinar cell necrosis and extensive fat necrosis. Accompanied with a peak value of serum amylase activity 24 h after the induction, the kidney changes developed, characterized by decrease in urine output, increase in serum urea and creatinine, and proximal convoluted tubular damage under electron microscope. There were no pancreatitis associated lung or liver changes. These results suggest that this model can be used to study the pathogenesis and therapy of renal injury during acute moderately severe pancreatitis.

Acute Disease↗

Terrain influences the accurate judgement of distance.

Mathematically, three-dimensional space can be represented differently by the cartesian, polar, and other coordinate systems. However, in physical sciences, the choice of representation system is restricted by the need to simplify a machine's computation while enhancing its efficiency. Does the brain, for the same reasons, 'select' the most cost-efficient way to represent the three-dimensional location of objects? As we frequently interact with objects on the common ground surface, it might be beneficial for the visual system to code an object's location using a ground-surface-based reference frame. More precisely, the brain could use a quasi-two-dimensional coordinate system (x(s), y(s)) with respect to the ground surface (s), rather than a strictly three-dimensional coordinate system (x, y, z), thus reducing coding redundancy and simplifying computations. Here we provide support for this view by studying human psychophysical performance in perceiving absolute distance and in visually directed action tasks. For example, when an object was seen on a continuous, homogeneous texture ground surface, the observer judged the distance to the object accurately. However, when similar surface information was unavailable, for example, when the object was seen across a gap in the ground, or across distinct texture regions, distance judgement was impaired.

Brain↗

Illusory-contour formation affected by luminance contrast polarity.

We report a new type of illusory contour (Illusory-O) whose formation is contingent upon the contrast polarity of its juxtaposed inducing elements being similar, i.e. both elements must either be positive or negative in contrast sign. To test the hypothesis that this contingency is primarily dictated by factors that determine amodal surface completion (occlusion) between the inducing elements we conducted a series of experiments employing known spatial properties of the amodal completion mechanism, to show that spatial conditions unfavorable to occlusion lead to a concurrent weakening of the Illusory-O formation. For instance, we found that when the juxtaposed inducing elements (solid rectangles) were spatially misaligned, or when their spatial separation increased, our observers rated the perception of the Illusory-O as reduced. We also showed that, in addition to using solid-form inducing elements, the Illusory-O can be induced by line terminals, as long as these lines respect the requirements of the amodal completion mechanism such as similar contrast polarity and spatial alignment. Then we demonstrated that the role of the amodal completion mechanism is not limited to our particular arrangement of inducing elements by showing that the formation of the illusory Necker cube also relies on similar contrast polarity. Finally, to explain why some illusory contours like the Illusory-O are dependent on contrast polarity while others (e.g. Kanizsa square) are not, we propose that the key rests upon the visual system's presumption of occlusion. That is, in forming the illusory contour, if the visual system infers that it is a byproduct of the inducing elements being occluded, then having inducing elements of similar contrast polarity becomes a prerequisite. This assumption can be traced to the occurrence in the real world where partially occluded objects usually have visible parts (on both ends) with similar contrast polarity. Along this line of thinking, we suggest a plausible neural circuitry that may be implemented to form both contrast polarity sensitive and insensitive types of illusory contours.

Contrast Sensitivity↗

Identification of PN1, a predominant voltage-dependent sodium channel expressed principally in peripheral neurons.

Membrane excitability in different tissues is due, in large part, to the selective expression of distinct genes encoding the voltage-dependent sodium channel. Although the predominant sodium channels in brain, skeletal muscle, and cardiac muscle have been identified, the major sodium channel types responsible for excitability within the peripheral nervous system have remained elusive. We now describe the deduced primary structure of a sodium channel, peripheral nerve type 1 (PN1), which is expressed at high levels throughout the peripheral nervous system and is targeted to nerve terminals of cultured dorsal root ganglion neurons. Studies using cultured PC12 cells indicate that both expression and targeting of PN1 is induced by treatment of the cells with nerve growth factor. The preferential localization suggests that the PN1 sodium channel plays a specific role in nerve excitability.

Amino Acid Sequence↗

Visual attention to surfaces in three-dimensional space.

Although attention plays a significant role in vision, its spatial deployment and spread in the third dimension is not well understood. In visual search experiments we show that we cannot easily focus attention across isodepth loci unless they are part of a well-formed surface with locally coplanar elements. Yet we can easily spread our attention selectively across well-formed surfaces that span an extreme range of stereoscopic depths. In cueing experiments, we show that this spread of attention is, in part, obligatory. Attentional selectivity is reduced when targets and distractors are coplanar with or rest on a common receding stereoscopic plane. We conclude that attention cannot be efficiently allocated to arbitrary depths and extents in space but is linked to and spreads automatically across perceived surfaces.

Attention↗