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1.
Front Psychiatry ; 13: 1002809, 2022.
Article in English | MEDLINE | ID: mdl-36262627

ABSTRACT

Objective: The retrospective study aimed to explore the difference in mood outcomes and cognitive function between high-frequency repetitive transcranial magnetic stimulation (HF-rTMS) over dorsolateral prefrontal cortex (DLPFC) and electroconvulsive therapy in major depression disorder (MDD) patients and to examine the improvement of HF-rTMS on cognitive impairment evoked by electroconvulsive therapy (ECT). Materials and methods: A total of 116 participants with MDD, who completed a 4-week follow-up assessment, were enrolled. The cohort consisted of 26 cases classed as control, 46 participants administrated with HF-rTMS (HF-rTMS group), 22 patients treated with ECT (ECT group), and 23 cases treated with HF-rTMS and ECT at the course of hospitalization (HF-rTMS + ECT group). Medication was kept constant as well in all participants. The 17-item Hamilton Depression Rating Scale for Depression (HAMD-17) and 14-item Hamilton Anxiety Rating Scale (HAMA-14) were used to assess depression and anxiety, respectively. Montreal Cognitive Assessment (MoCA) was to elevate cognitive function. Results: No statistical significance was found for baseline in sociodemographic, characteristics of depression, anxiety and cognition, and psychopharmaceutic dosages among control, HF-rTMS, ECT, and HF-rTMS + ECT groups (p > 0.05). Compared with baseline level, total scores of HAMD-17 and HAMA-14 significantly decreased at the end of 4 weeks after treatment (p < 0.001). Furthermore, the decline in scores of HAMD-17 and its sleep disorder and retardation factors from baseline to post-treatment was greater in HF-rTMS, ECT, and HF-rTMS + ECT group than in control (p < 0.05), and there was a significant difference between control and HF-rTMS group in the decline of psychological factor of HAMA-14 (p < 0.01). ECT treatment evoked total score of MoCA to decrease significantly at the end of 4-week after intervention (p < 0.001), and the decline in scores of MoCA and its delayed recall and language performances from baseline to post-treatment was greater in ECT than control, HF-rTMS, and HF-rTMS + ECT (p < 0.05). Conclusion: High-frequency repetitive transcranial magnetic stimulation improved psychological anxiety and ameliorated the cognition impairment evoked by ECT though it had the same anti-depressant efficacy as ECT.

2.
Diabetes ; 67(5): 861-871, 2018 05.
Article in English | MEDLINE | ID: mdl-29483183

ABSTRACT

Strong associations between HLA alleles and infectious and autoimmune diseases are well established. Although obesity is also associated with these diseases, the relationship between HLA and obesity has not been systematically investigated in a large cohort. In the current study, we analyzed the association of HLA alleles with BMI using data from 1.3 million healthy adult donors from the Chinese Marrow Donor Program (CMDP). We found 23 HLA alleles, including 12 low-resolution and 11 high-resolution alleles, were significantly associated with BMI after correction for multiple testing. Alleles associated with high BMI were enriched in haplotypes that were common in both Chinese and European populations, whereas the alleles associated with low BMI were enriched in haplotypes common only in Asians. Alleles B*07, DRB1*07, DRB1*12, and C*03:02 provided the strongest associations with BMI (P = 6.89 × 10-10, 1.32 × 10-9, 1.52 × 10-9, and 4.45 × 10-8, respectively), where B*07 and DRB1*07 also had evidence for sex-specific effects (Pheterogeneity = 0.0067 and 0.00058, respectively). These results, which identify associations between alleles of HLA-B, DRB1, and C with BMI in Chinese young adults, implicate a novel biological connection between HLA alleles and obesity.


Subject(s)
Asian People/genetics , HLA-B7 Antigen/genetics , HLA-C Antigens/genetics , HLA-DRB1 Chains/genetics , Obesity/genetics , Adolescent , Adult , Body Mass Index , China , Female , Genotype , Humans , Male , Middle Aged , Overweight/genetics , Phenotype , Sex Factors , Young Adult
3.
PLoS One ; 10(9): e0139485, 2015.
Article in English | MEDLINE | ID: mdl-26421847

ABSTRACT

Allogeneic hematopoietic stem cell transplantation is a widely used and effective therapy for hematopoietic malignant diseases and numerous other disorders. High-resolution human leukocyte antigen (HLA) haplotype frequency distributions not only facilitate individual donor searches but also determine the probability with which a particular patient can find HLA-matched donors in a registry. The frequencies of the HLA-A, -B, -C, -DRB1, and -DQB1 alleles and haplotypes were estimated among 169,995 Chinese volunteers using the sequencing-based typing (SBT) method. Totals of 191 HLA-A, 244 HLA-B, 146 HLA-C, 143 HLA-DRB1 and 47 HLA-DQB1 alleles were observed, which accounted for 6.98%, 7.06%, 6.46%, 9.11% and 7.91%, respectively, of the alleles in each locus in the world (IMGT 3.16 Release, Apr. 2014). Among the 100 most common haplotypes from the 169,995 individuals, nine distinct haplotypes displayed significant regionally specific distributions. Among these, three were predominant in the South China region (i.e., the 20th, 31st, and 81sthaplotypes), another three were predominant in the Southwest China region (i.e., the 68th, 79th, and 95th haplotypes), one was predominant in the South and Southwest China regions (the 18th haplotype), one was relatively common in the Northeast and North China regions (the 94th haplotype), and one was common in the Northeast, North and Northwest China (the 40th haplotype). In conclusion, this is the first to analyze high-resolution HLA diversities across the entire country of China, based on a detailed and complete data set that covered 31 provinces, autonomous regions, and municipalities. Specifically, we also evaluated the HLA matching probabilities within and between geographic regions and analyzed the regional differences in the HLA diversities in China. We believe that the data presented in this study might be useful for unrelated HLA-matched donor searches, donor registry planning, population genetic studies, and anthropogenesis studies.


Subject(s)
Bone Marrow/immunology , Gene Frequency , Histocompatibility Antigens Class I/genetics , Adolescent , Adult , Alleles , China , Female , Genetic Association Studies , Haplotypes , Humans , Linkage Disequilibrium , Male , Middle Aged , Registries , Volunteers , Young Adult
4.
Ann N Y Acad Sci ; 1233: 78-84, 2011 Sep.
Article in English | MEDLINE | ID: mdl-21950979

ABSTRACT

We investigated monocular viewing and trigeminal (V) deafferentation on the vertical deviation (VD) in monkeys following intracranial IV section. Two monkeys wore a patch for four to six weeks, one over the paretic eye and the other over the normal eye following IV section. Two other monkeys had combined IV and V section with the paretic eye patched postlesion. In monkeys with IV section alone, the VD lessened within the first week postlesion but then increased gradually with the same eye still patched. Thus binocular viewing was unnecessary for the later VD increase. With combined IV and V section, the VD also transiently lessened postlesion. We have proposed that the decrease in VD after IV section is adaptive, driven by an error signal using ocular proprioception and efference copy. Since V section did not eliminate the early decrease in VD, we suggest some orbital afference is transmitted centrally via other cranial nerves. However, the later increase in VD suggests either that the proprioceptive effect cannot be sustained or that mechanical changes supervene to increase the VD.


Subject(s)
Eye Movements/physiology , Trigeminal Nerve/physiology , Trochlear Nerve/physiology , Afferent Pathways/physiology , Animals , Denervation , Female , Macaca mulatta , Male , Oculomotor Muscles/innervation , Oculomotor Muscles/physiology , Proprioception/physiology , Strabismus/physiopathology
5.
PLoS One ; 5(11): e13981, 2010 Nov 15.
Article in English | MEDLINE | ID: mdl-21085587

ABSTRACT

BACKGROUND: The otolith-driven translational vestibulo-ocular reflex (tVOR) generates compensatory eye movements to linear head accelerations. Studies in humans indicate that the cerebellum plays a critical role in the neural control of the tVOR, but little is known about mechanisms of this control or the functions of specific cerebellar structures. Here, we chose to investigate the contribution of the nodulus and uvula, which have been shown by prior studies to be involved in the processing of otolith signals in other contexts. METHODOLOGY/PRINCIPAL FINDINGS: We recorded eye movements in two rhesus monkeys during steps of linear motion along the interaural axis before and after surgical lesions of the cerebellar uvula and nodulus. The lesions strikingly reduced eye velocity during constant-velocity motion but had only a small effect on the response to initial head acceleration. We fit eye velocity to a linear combination of head acceleration and velocity and to a dynamic mathematical model of the tVOR that incorporated a specific integrator of head acceleration. Based on parameter optimization, the lesion decreased the gain of the pathway containing this new integrator by 62%. The component of eye velocity that depended directly on head acceleration changed little (gain decrease of 13%). In a final set of simulations, we compared our data to the predictions of previous models of the tVOR, none of which could account for our experimental findings. CONCLUSIONS/ SIGNIFICANCE: Our results provide new and important information regarding the neural control of the tVOR. Specifically, they point to a key role for the cerebellar nodulus and uvula in the mathematical integration of afferent linear head acceleration signals. This function is likely to be critical not only for the tVOR but also for the otolith-mediated reflexes that control posture and balance.


Subject(s)
Cerebellum/physiology , Macaca mulatta/physiology , Otolithic Membrane/physiology , Reflex, Vestibulo-Ocular/physiology , Animals , Cerebellum/physiopathology , Eye Movements/physiology , Female , Head Movements/physiology , Humans , Male , Models, Neurological , Motion Perception/physiology , Otolithic Membrane/physiopathology , Time Factors , Visual Perception/physiology
6.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 27(3): 333-4, 2010 Jun.
Article in Chinese | MEDLINE | ID: mdl-20533277

ABSTRACT

OBJECTIVE: To identify a novel HLA-DRB1 allele in Chinese. METHODS: A novel HLA-DR allele was detected by PCR-SSP and SBT in a patient with leukemia. RESULTS: The sequence of the novel allele was different from all other known alleles. The novel allele differed from the closet matching allele HLA-DRB1*1404 by one nucleotide substitution in exon 2, at position 33 T>C, this resulted in an amino acid change from Tyr to His at codon 17. CONCLUSION: The novel allele is confirmed as a new HLA allele and it was officially named HLA-DRB1*1461 by WHO Nomenclature Committee in May, 2006.


Subject(s)
Alleles , HLA-DR Antigens/genetics , Asian People/genetics , HLA-DRB1 Chains , Humans , Polymerase Chain Reaction , Sequence Analysis, DNA
7.
Invest Ophthalmol Vis Sci ; 51(7): 3485-93, 2010 Jul.
Article in English | MEDLINE | ID: mdl-20164458

ABSTRACT

PURPOSE. Although cyclovertical strabismus in humans is frequently attributed to superior oblique (SO) palsy, anatomic effects of SO denervation have not been studied. Magnetic resonance imaging (MRI) and orbital histology was used to study the effects of acute trochlear (CN4) denervation on the monkey SO. METHODS. Five juvenile macaque monkeys were perfused with formalin for 5 weeks: 15 months after unilateral or bilateral 10-mm intracranial trochlear neurectomy. Denervated and fellow orbits were imaged by MRI, embedded whole in paraffin, serially sectioned at 10-mum thickness, and stained with Masson trichrome. Whole muscle and individual fiber cross sections were quantified in SO muscles throughout the orbit and traced larger fibers in one specimen where they were present. RESULTS. MRI demonstrated marked reduction in midorbital cross section in denervated SO muscles, with anterior shift of SO mass preserving overall volume. Muscle fibers exhibited variable atrophy along their lengths. Denervated orbital layer (OL) fiber cross sections were slightly but significantly reduced from control at most anteroposterior locations, but this reduction was much more profound in global layer (GL) fibers. Intraorbital and intramuscular CN4 were uniformly fibrotic. In one animal, there were scattered clusters of markedly hypertrophic GL fibers that exhibited only sparse myomyous junctions only anteriorly. CONCLUSIONS. CN4 denervation produces predominantly SO GL atrophy with relative OL sparing. Overall midorbital SO atrophy was evident by MRI as early as 5 weeks after denervation, as denervated SO volume shifted anteriorly. Occasional GL fiber hypertrophy suggests that at least some SO fibers extend essentially the full muscle length after trochlear neurectomy.


Subject(s)
Oculomotor Muscles/innervation , Oculomotor Muscles/pathology , Strabismus/diagnosis , Trochlear Nerve Diseases/diagnosis , Trochlear Nerve/physiology , Animals , Atrophy , Denervation , Macaca mulatta , Magnetic Resonance Imaging , Muscle Fibers, Skeletal/pathology , Nerve Fibers/pathology , Orbit , Subarachnoid Space
8.
Ann N Y Acad Sci ; 1164: 482-5, 2009 May.
Article in English | MEDLINE | ID: mdl-19645954

ABSTRACT

In two monkeys, we recorded spontaneous eye movements before and after ablation of the cerebellar nodulus and uvula (Nod/Uv). In both monkeys, there was an increase in upward ocular drift (downbeat nystagmus [DBN]) in darkness (M1: 1.5 degrees/s pre, 3.4 degrees/s post; M2: 1.3 degrees/s pre, 7.0 degrees/s post), but not in light. There was little effect of orbital position on drift velocity. These findings suggest that the Nod/Uv may play a role in the bias component of DBN.


Subject(s)
Nystagmus, Pathologic/physiopathology , Uvula/pathology , Animals , Macaca mulatta
9.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 17(3): 787-92, 2009 Jun.
Article in Chinese | MEDLINE | ID: mdl-19549409

ABSTRACT

This study was aimed to investigate a beneficial approach for resolving the deficiency of blood source, preventing the infection resulting from blood transfusion and overcoming the knotty match of patients with rare blood group by using massive expansion of erythroid cells from cord blood CD34(+) cells in vitro. The CD34(+) cells from human cord blood were cultured in serum-free medium supplemented with stem cell factor (SCF), interleukin-3 (IL-3) and erythropoietin (EPO) for 1 week, then expansion and differentiation of CD34(+) cells into erythroid cells were supported by co-culture with human mesenchymal stem cells (MSCs) derived from bone marrow for 2 weeks. The results indicated that after culture for 23 days, the expansion multiple of total cell number reached 2.52 x 10(5), and over 95% of these cells were erythroid cells as compared with less than 1% of myelomonocytic (CD14(+) or CD15(+)) cells and megakaryocytic (CD41(+)) cells. However, the culture system without MSC support was significantly disadvantaged both in expansion ability and ratio of erythroid cells when compared with MSC supporting system. It is concluded that the erythroid cells can be produced from CD34(+) cells in large scale by culturing in the system comprised of cytokine sets and MSC feeders, in which MSCs can support the proliferation and differentiation of erythroid cells.


Subject(s)
Cell Culture Techniques/methods , Cell Differentiation , Fetal Blood/cytology , Hematopoietic Stem Cells/cytology , Antigens, CD34 , Humans
10.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 26(2): 216-8, 2009 Apr.
Article in Chinese | MEDLINE | ID: mdl-19350520

ABSTRACT

OBJECTIVE: To investigate a recombination event occurring between the HLA-B and DRB1 loci in a Chinese family with a leukemia patient. METHODS: HLA class I (-A and -B) low resolution typing was carried out by polymerase chain reaction-sequence specific oligonucleotide, PCR-SSO). HLA class II low resolution typing was performed by PCR-sequence specific primer (PCR-SSP). And HLA class I and II high resolution typing was done by sequencing-based typing (SBT). Then the recombination event was analyzed by family study. RESULTS: The 2 haplotypes of the patient were A*3101-B*1301-DRB1*0701 and A*3303-B*4403-DRB1*1302. His father's 2 haplotypes were A*3001-B*1302-DRB1*0701 and A*3101-B*1301-DRB1*1501. Family study demonstrated that the HLA-A*3101-B*1301 was from one of his father's chromosome and the DRB1*0701 was from the other chromosome of his father. So the result indicated that the recombination event occurred between the HLA-B and -DRB1 loci during meiosis of his father and resulted in a new HLA haplotype that was transferred to the son. CONCLUSION: A HLA-B/DR recombination event occurring between the HLA-B and -DRB1 loci has been found in a Chinese family, which may help further study of the mechanism of HLA recombination.


Subject(s)
Asian People/genetics , HLA-A Antigens/genetics , HLA-B Antigens/genetics , HLA-DQ Antigens/genetics , HLA-DR Antigens/genetics , Adolescent , Crossing Over, Genetic/genetics , Family , Female , HLA-DQ beta-Chains , HLA-DRB1 Chains , Humans , Male , Pedigree , Polymerase Chain Reaction , Recombination, Genetic
11.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 17(2): 493-5, 2009 Apr.
Article in Chinese | MEDLINE | ID: mdl-19379596

ABSTRACT

This study was to identify a novel HLA-DRB1 allele in Chinese population by nucleotide sequence ana- lysis. The HLA typing of genes was performed by PCR-SSO and PCR-SSP, the ambiguous novel allele was identified by DNA sequence analysis. The results showed that the sequence of this new allele differed from DRB1*140101 by one nucleotide substitution at position 256 in exon 2 (G- > A), resulting in an amino acid change from Ala to Thr at codon 57. In conclusion, this allele is a novel one, which has been officially given the name DRB1*1462 by the WHO nomenclature committee in January 2006.


Subject(s)
Alleles , HLA-DR Antigens/genetics , Sequence Analysis, DNA , Asian People/genetics , HLA-DRB1 Chains , Histocompatibility Testing , Humans , Molecular Sequence Data
12.
Prog Brain Res ; 171: 47-52, 2008.
Article in English | MEDLINE | ID: mdl-18718281

ABSTRACT

We investigated the immediate and long-term changes in static eye alignment with acute superior oblique palsy (SOP) in the monkey. When the paretic eye was patched immediately after the lesion for 6-9 days, vertical alignment slowly improved. When the patch was removed and binocular viewing was allowed, alignment slowly worsened. In contrast when a monkey was not patched immediately after the lesion vertical alignment did not improve. We also show that a model of the eye plant can reproduce the observed acute deficit induced by SOP, but only by abandoning Robinson's symmetric simplification of the reciprocal innervation relationship within pairs of agonist-antagonist muscles. The model also demonstrated that physiologic variability in orbital geometry can have a large impact on SOP deficits.


Subject(s)
Eye Movements/physiology , Models, Biological , Strabismus/physiopathology , Trochlear Nerve Diseases/physiopathology , Vision, Binocular/physiology , Animals , Convergence, Ocular/physiology , Fixation, Ocular/physiology , Haplorhini , Humans
13.
Prog Brain Res ; 171: 167-72, 2008.
Article in English | MEDLINE | ID: mdl-18718296

ABSTRACT

We studied two rhesus monkeys before and after surgical ablation of the nodulus and uvula (Nod/Uv) of the cerebellum. Three-axis eye movements were recorded with the magnetic-field scleral search coil system during a variety of vestibular and ocular motor tasks. Here we describe the effects of the Nod/Uv lesions on dynamic (head translation) and static (head tilt) otolith-mediated vestibulo-ocular reflexes. The main findings were: 1. eye velocity during sinusoidal vertical translation (1.5 Hz) was reduced by 59% in the dark and 36% in the light; 2. eye velocity during steps of horizontal translation was reduced, but only in the dark and more so during the sustained (constant velocity) than the initial (acceleration) part of the response, and 3. there was a torsional nystagmus that depended on the position of roll head tilt, but static ocular counterroll was unchanged. These results suggest new roles for the Nod/Uv in the processing of otolith signals. This is likely important not only for facilitating gaze during linear head motion, but also for maintaining postural stability and one's orientation relative to gravity. The lesions appeared to have a greater effect on responses to vertical motion, particularly in the light (in contrast, responses to interaural translation in the light were nearly normal), suggesting a particular importance of the Nod/Uv in processing signals arising from the sacculi.


Subject(s)
Cerebellum/anatomy & histology , Cerebellum/pathology , Otolithic Membrane/physiology , Reflex, Vestibulo-Ocular/physiology , Animals , Cerebellum/physiology , Haplorhini , Motion Perception/physiology , Space Perception/physiology
14.
J Neurophysiol ; 100(4): 1813-23, 2008 Oct.
Article in English | MEDLINE | ID: mdl-18650313

ABSTRACT

We studied sinusoidal (SIN) and step-ramp (SR) pursuit in two rhesus monkeys, before and after surgical lesions of the cerebellar nodulus and uvula (Nod/Uv). Eye movements were recorded using the magnetic field scleral search coil method. Pursuit targets were generated by an LCD projector and back-projected onto a tangent screen in an otherwise dark room. After the Nod/Uv lesions, both monkeys showed a reduced eye velocity during downward pursuit (SIN: 42% decrease in M1, 91% decrease in M2; SR: 37% decrease in M1, 85% decrease in M2). For SR, the decrease was seen only for the closed-loop response; initial eye acceleration did not change (P>0.05). Upward pursuit gains increased for SIN (M1: 9%, M2: 11%); they decreased for SR (M1: 27%, M2: 18%), but to a lesser degree than for downward pursuit. Horizontal pursuit was little changed in M1 but was reduced in one direction in M2, the animal with the larger lesion. The deficit in downward tracking was limited to foveal pursuit; ocular following of random-dot stimuli was retained, even when the target subtended only several degrees. Our findings support a critical role for the Nod/Uv in vertical pursuit, particularly for sustained downward pursuit. Finally, in both monkeys, the lesion increased spontaneous upward ocular drift in the dark (mean prelesion, 1.43 degrees/s; postlesion, 5.92 degrees/s), suggesting a role for the Nod/Uv in holding the eyes still and in the genesis of downbeat nystagmus.


Subject(s)
Cerebellum/injuries , Psychomotor Performance/physiology , Pursuit, Smooth/physiology , Uvula/injuries , Animals , Cerebellum/physiology , Data Interpretation, Statistical , Eye Movements/physiology , Female , Fixation, Ocular , Macaca mulatta , Male , Motion Perception/physiology , Nystagmus, Physiologic/physiology , Saccades/physiology , Uvula/innervation , Uvula/physiology
15.
Invest Ophthalmol Vis Sci ; 49(9): 3927-32, 2008 Sep.
Article in English | MEDLINE | ID: mdl-18469189

ABSTRACT

PURPOSE: To investigate vertical smooth pursuit eye movements in monkeys with acute acquired superior oblique palsy (SOP). METHODS: The trochlear nerve was severed intracranially in two rhesus monkeys. After surgery, the paretic eye was patched for 6 or 9 days, and then binocular viewing was allowed. Eye movements were measured with binocular, dual search coils, before and after surgery, under monocular viewing conditions. Vertical pursuit movements along the midline were elicited by using triangular-wave (20 deg/s, +/-20 degrees ) or step-ramp (20 deg/s) stimuli at a distance of 66 cm. RESULTS: During the early post-lesion period, before binocular viewing was allowed, pursuit velocity of the paretic eye during triangular-wave tracking was lower than that of the normal eye. When the viewing eye crossed straight ahead, the changes in pursuit velocity conjugacy were similar for upward and downward tracking. After habitual binocular viewing was allowed, differences between upward and downward pursuit emerged. When measured approximately 30 days after lesioning, this directional asymmetry was less during the open-loop period of step-ramp tracking than during triangular-wave tracking. CONCLUSIONS: Rhesus monkeys with acute acquired SOP show characteristic changes in vertical pursuit, with deficits for both upward and downward tracking, and differences between the initiation of step-ramp pursuit and the sustained response during triangular-wave tracking. The habitual viewing condition (monocular versus binocular) also affected the pattern of deficit.


Subject(s)
Oculomotor Nerve Diseases/physiopathology , Pursuit, Smooth/physiology , Saccades/physiology , Trochlear Nerve Diseases/physiopathology , Trochlear Nerve/physiopathology , Animals , Haplorhini
16.
Invest Ophthalmol Vis Sci ; 49(4): 1421-8, 2008 Apr.
Article in English | MEDLINE | ID: mdl-18385059

ABSTRACT

PURPOSE: To investigate the effects of acquired superior oblique palsy (SOP) and corrective strabismus surgery on torsional optokinetic nystagmus (tOKN) in monkeys. METHODS: The trochlear nerve was severed intracranially in two rhesus monkeys (M1 and M2). For each monkey, more than 4 months after the SOP, the ipsilateral inferior oblique muscle was denervated and extirpated. For M2, 4 months later, the contralateral inferior rectus muscle was recessed by 2 mm. tOKN was elicited during monocular viewing of a rotating stimulus that was rear projected onto a screen 43.5 cm in front of the animal. Angular rotation of the stimulus about the center was 40 deg/s clockwise or counterclockwise. RESULTS: The main findings after trochlear nerve sectioning were (1) the amplitude and peak velocity of torsional quick and slow phases of the paretic eye was less than that in the normal eye for both intorsion and extorsion, and (2) the vertical motion of the paretic eye increased during both torsional slow and quick phases. After corrective inferior oblique surgery, both of these effects were even greater. CONCLUSIONS: Acquired SOP and corrective inferior oblique-weakening surgery create characteristic patterns of change in tOKN that reflect alterations in the dynamic properties of the extraocular muscles involved in eye torsion. tOKN also provides information complementary to that provided by the traditional Bielschowsky head-tilt test and potentially can help distinguish among different causes of vertical ocular misalignment.


Subject(s)
Nystagmus, Optokinetic/physiology , Oculomotor Muscles/physiopathology , Strabismus/physiopathology , Torsion Abnormality/physiopathology , Trochlear Nerve Diseases/physiopathology , Acute Disease , Animals , Denervation , Female , Macaca mulatta , Oculomotor Muscles/innervation , Trochlear Nerve/physiology
17.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 24(6): 629-34, 2007 Dec.
Article in Chinese | MEDLINE | ID: mdl-18067072

ABSTRACT

OBJECTIVE: To determine the possible myocilin molecular genetic defect underlying POAG in China and to identify the pathogenic mutation causing the disease. METHODS: The majority of 1 branch of a large Chinese POAG family were personally examined by two senior ophthalmologists. The diagnoses were made by both doctors according to the signs of elevated intraocular pressure, glaucomatous optic neuropathy and glaucomatous visual field defect. All coding sequences of the myocilin gene plus the flanking sites were amplified by polymerase chain reaction (PCR) using genomic DNA from all examined family members followed by sequencing of the PCR products. One hundred normal control subjects were screened by single strand confirmational polymorphism analysis for the mutation. RESULTS: This Chinese pedigree exhibited autosomal dominant mode of inheritance. The onset age ranged from 26 to 59 years. A novel disease-causing missense mutation T455K in the third exon of the myocilin gene was identified in all affected family members, all glaucoma suspects and 4 individuals who have not shown apparently signs of glaucoma. None of the subjects without the mutation had glaucoma. Affected individuals with the T455K mutation showed variable onset between 26 and 59 years of age. Filtering surgery was performed on all of 7 affected family members. The T455K mutation in myocilin gene was not found in the normal controls. A previously reported polymorphism IVS2+35(A to G)was detected in 4 individuals. CONCLUSION: The novel myocilin sequence alteration T455K that is highly associated with the development of glaucoma and locates in a very conserved residue is proven to be a disease-causing missence mutation. All affected individuals and all POAG suspects in this family are identified to have this mutation. The mutation in this family is associated with a phenotype characterized by mix-onset open angle glaucoma and associated with a high penetrance. It is important for the mutation screening and periodical checkups of presymptomatic individuals belonging to the family of a POAG patient with T455K mutation.


Subject(s)
Asian People/genetics , Cytoskeletal Proteins/genetics , Eye Proteins/genetics , Glaucoma, Open-Angle/genetics , Glycoproteins/genetics , Polymorphism, Single-Stranded Conformational , Adult , Age of Onset , Aged , Amino Acid Substitution , China , DNA Mutational Analysis , Female , Humans , Intraocular Pressure/genetics , Male , Middle Aged , Pedigree , Point Mutation
18.
Strabismus ; 15(3): 137-47, 2007.
Article in English | MEDLINE | ID: mdl-17763250

ABSTRACT

PURPOSE: We examined the effects of the Harada-Ito procedure on static and dynamic alignment in an adult with acquired bilateral superior oblique palsy (SOP). METHODS: 3D eye movements were recorded before and six weeks after a bilateral Harada-Ito procedure. Superior oblique muscle (SOM) size and contractility were assessed with orbital imaging. RESULTS: On MRI, the left SOM was smaller than the right. Little contractile thickening was present in down gaze for either eye. Preoperatively, the patient had a hypertropia: 1.9 degrees right hypertropia (at down 20 degrees , left 20 degrees ) and 6.4 degrees left hypertropia (at down 20 degrees , right 20 degrees ). Postoperatively, the vertical tropia in all positions was < 1 degrees . Listing's primary position rotated toward straight ahead for the RE but was unchanged for the LE. Postoperatively, for 40 degrees upward saccades peak dynamic intrasaccadic extorsion decreased by 2.2-3.2 degrees for both eyes and for 40 degrees downward saccades by 2.3-3.6 degrees for the RE but was unchanged for the LE. Saccade conjugacy improved and post-saccadic drift lessened for all vertical saccades. CONCLUSIONS: The Harada-Ito procedure produced striking improvements in static and dynamic alignment in bilateral SOP. Some changes were binocular (decreased post-saccadic drift, improved saccade conjugacy, less dynamic extorsion for upward saccades) but others were much greater in the less paretic eye (torsional gradients from up to down gaze, less dynamic extorsion for downward saccades). Both central adaptive and peripheral mechanical changes explain these findings. Our results also imply that the Harada-Ito procedure has more effect when there is residual function of the SOM.


Subject(s)
Eye Movements , Ophthalmologic Surgical Procedures , Trochlear Nerve Diseases/physiopathology , Trochlear Nerve Diseases/surgery , Female , Humans , Magnetic Resonance Imaging , Middle Aged , Postoperative Period , Trochlear Nerve Diseases/diagnosis
19.
Invest Ophthalmol Vis Sci ; 48(6): 2602-11, 2007 Jun.
Article in English | MEDLINE | ID: mdl-17525190

ABSTRACT

PURPOSE: To investigate immediate and long-term changes in static ocular alignment with acute acquired superior oblique palsy (SOP) in monkeys. METHODS: The trochlear nerve was severed intracranially in two rhesus monkeys. After the surgery, the paretic eye was patched for 6 to 9 days, and then binocular viewing was allowed. Three-axis eye movements (horizontal, vertical, and torsional) were measured with binocular, dual search coils. Eye movements were recorded over a +/-20 degrees horizontal and vertical range of fixations before the lesion and then, beginning the first day after surgery. Changes in alignment with +/-30 degrees head tilt were also studied. RESULTS: The main findings were (1) misalignment (10-12 degrees vertical in adduction, down; 10-12 degrees torsional in abduction, down); (2) changes in vertical deviation (VD) with head tilt (Delta 2-6 degrees with left versus right 30 degrees tilt); and (3) changes in comitance and VD over time. During the early postlesion period, before binocular viewing was allowed, VD decreased and comitance improved. Once binocular viewing was allowed, VD increased and comitance worsened. CONCLUSIONS: Rhesus monkeys with induced SOP show a characteristic pattern of misalignment that helps define the ocular motor signature of acute denervation of the superior oblique muscle. The animals also showed striking changes over time in the amount and comitance of the vertical misalignment that depended on whether viewing was monocular or binocular, suggesting a role for proprioception in adaptation to misalignment with habitual monocular viewing.


Subject(s)
Eye Movements/physiology , Oculomotor Muscles/physiopathology , Strabismus/physiopathology , Trochlear Nerve Diseases/physiopathology , Acute Disease , Adaptation, Physiological , Animals , Disease Models, Animal , Female , Macaca mulatta , Proprioception/physiology , Trochlear Nerve/surgery , Vision, Binocular/physiology
20.
Invest Ophthalmol Vis Sci ; 48(6): 2612-20, 2007 Jun.
Article in English | MEDLINE | ID: mdl-17525191

ABSTRACT

PURPOSE: To investigate vertical and torsional eye motion during and immediately after vertical saccades with acute acquired superior oblique palsy (SOP) in monkeys. METHODS: The trochlear nerve was severed intracranially in two rhesus monkeys. After surgery, the paretic eye was patched for 6 to 9 days, and then binocular viewing was allowed. Three-axis eye movements (horizontal, vertical, and torsion) were measured with binocular, dual search coils. Eye movements were recorded before surgery and then beginning 2 to 3 days after surgery during 20 degrees vertical saccades over a +/-20 degrees horizontal and vertical range. RESULTS: The main findings were: (1) Saccade amplitude in the paretic eye (PE) was smaller than that of the normal eye (NE), especially for downward saccades with the PE in adduction; (2) vertical drift was backward after upward saccades with the PE in adduction or abduction, onward after downward saccades with the PE in adduction, but backward for downward saccades with the PE in abduction, drift time constants averaged 35 ms; (3) peak dynamic blip intrasaccadic torsion increased (relative extorsion), the most for upward saccades with the PE in abduction; (4) postsaccadic torsional drift increased (relative intorsion), the most for downward saccades with the PE in adduction; and (5) the peak velocity-amplitude relationship in vertical saccades was little affected, but the ratio between the peak velocity of the two eyes was a consistent indicator of the palsy. CONCLUSIONS: Rhesus monkeys with acute acquired SOP show characteristic changes in vertical and torsional movements during and immediately after vertical saccades that help define the ocular motor signature of denervation of the SO muscle. These dynamic changes were largely unrelated to the changes in static alignment over time, suggesting that static and dynamic disturbances in SOP are influenced by separate central mechanisms.


Subject(s)
Eye Movements/physiology , Oculomotor Muscles/physiopathology , Saccades/physiology , Trochlear Nerve Diseases/physiopathology , Acute Disease , Animals , Female , Macaca mulatta , Vision, Binocular/physiology
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