先天性眼外肌纤维化ARIX基因多态性研究

目的 分析两个先天性眼外肌纤维化(congenital fibrosis of the extrapcular muscles,CFEOM)家系的临床表型,探讨家系ARIX基因多态性及其意义.方法 对两个CFEOM家系中所有成员共13人进行详细的临床检查,确定患者和正常人.提取DNA,进行PCR扩增,扩增产物进行纯化、DNA测序鉴定,测序结果与GenBank中人ARlX基因序列进行同源性比较.结果 两个家系的遗传方式均是常染色体隐性遗传,两个家系中共8例患者均表现为典型的CFEOM特征.家系I中3例患者均在ARIX基因外显子1出现同义突变156C＞T,在外显子2出现116G＞A,也为同义突变;家系Ⅱ中5例患者在ARIX基因外显子2发生两处突变,即21G＞A和116G＞A,其中116G＞A为同义突变;两家系中正常人均无上述改变.结论 此两家系均属于CFEOM2型,ARIX基因突变可能是导致该两家系致病的分子基础.     

Antigenic difference of acetylcholine receptor between single and multiple form endplates of human extraocular muscle

The acetylcholine receptor (AChR) of human extraocular muscle (EOM) has been studied by the immunological method using anti-AChR antibodies obtained from the sera of patients with myasthenia gravis (MG) of ocular type, whose symptoms have been restricted to EOM. Those antibodies could distinguish the AChR of multiple (en grappe) form endplates from that of single (en plaque) form endplates. This result indicates the antigenic difference of AChR between those two forms of endplates of human EOM.     

Transsphenoidal surgery of parasellar pituitary adenomas

Summary A series of 147 transsphenoidal operations for parasellar pituitary adenomas performed in a 4.5 year period is presented. The clinical and radiological features of the tumours are described and a new practical classification for the neurosurgeon is introduced. The results of surgery are analyzed with special attention to normalization rates in endocrinologically active adenomas and to the recovery rate of optomotoric nerve lesions in 10 of these cases. While in intraand parasellar microadenomas the surgical normalization rates are comparable to those not extending beyond the confines of the sella, correction of hormonal oversecretion is only exceptionally observed in invasive parasellar macroadenomas. The prognosis for extraocular nerve palsies was found to be favourable, irrespective of the duration of the palsies before surgical intervention. It is to be stressed that even adenomas invading the cavernous sinus can be totally removed via the transsphenoidal approach.     

Localization of motoneurons controlling the extraocular muscles of the rat

The localization of extraocular motoneurons in the rat was investigated by injecting horseradish peroxidase and [¹²⁵I]wheat germ agglutinin¹⁷ as retrogade tracer substances into individual eye muscles. The organization of subnuclei was found to be most similar to the rabbit. The subgroups representing the medial rectus and inferior rectus muscles are located in the rostral two thirds of the ipsilateral oculomotor nucleus (nIII) with some medial rectus motoneurons scattered laterally along the edge of the medial longitudinal fasciculus. The motor pool controlling the inferior oblique muscle is located in the middle third of the ipsilateral nIII. The motoneurons of the superior rectus muscles are in the caudal two-thirds of contralateral nIII while the levator palpebrae muscle has a bilateral innervation in the oculomotor nucleus. The motoneurons of the superior oblique are located in the contralateral trochlear nucleus although a few labeled neurons were scattered laterally in amongst the fibers of the medial longitudinal fasciculus. The cell bodies of lateral rectus motoneurons regional separation between the latter and internuclear neurons was found after injecting HRP into the oculomotor nucleus.     

Advances in Management of Retinoblastoma

Retinobiastoma is a highly malignant intraocular tumor of children that requires accurate diagnosis to prompt treatment. This article reviewed clinical, pathological and follow-up data on 1 147 cases of retinobiastoma registered in Japan from 1975 to 1982. It is obvious that the prognosis of children with retinobiastoma has improved remarkably in recent years. The current advances in the management of the retinobiastoma were discussed.     

Afferent and efferent connections of the medial, inferior and lateral vestibular nuclei in the cat and monkey

Attempts were made to determine the afferent and efferent connections of the medial (MVN), inferior (IVN) and lateral (LVN) vestibular nuclei (VN) in the cat and monkey using retrograde and anterograde axoplasmic transport technics. Injections of HRP and [3H]amino acids were made selectively into MVN, IVN and LVN and into: (1) MVN and IVN, (2) LVN and IVN and (3) all 4 VN. Contralateral afferents to MVN arise from (1) the nuclei prepositus (NPP) and intercalatus (NIC), (2) all parts of MVN and cell group 'y' and (3) parts of the superior vestibular nucleus (SVN), IVN and the fastigial nucleus (FN). Ipsilateral projections to MVN arise from: (1) a central band of the flocculus and the nodulus and uvula, (2) the interstitial nucleus of Cajal (INC), and (3) visceral nuclei of the oculomotor nuclear complex (OMC). Efferent projections of MVN are to: (1) the ipsilateral supraspinal nucleus (SSN), and (2) the contralateral central cervical nucleus (CCN), MVN, SVN, cell group 'y', the rostroventral region of LVN, the trochlear nucleus (TN) and the INC. Projections to the abducens nuclei (AN) and the OMC are bilateral. Some ascending fibers in the cat cross within the OMC. In the monkey fibers from MVN end in a central band of the ipsilateral flocculus. Afferents to IVN arise ipsilaterally from SVN, the nodulus, the uvula and the anterior lobe vermis. Contralateral afferents arise from: (1) parts of CCN, MVN, SVN, IVN and cell group 'y' and (2) the central third of the FN. IVN receives bilateral projections from the perihypoglossal nuclei (PH) and the visceral nuclei of the OMC. Efferents from IVN project: (1) ipsilaterally to nucleus beta of the inferior olive, (2) contralaterally to parts of MVN, SVN and cell group 'y' and (3) bilaterally to the paramedian reticular nuclei. No commissural fibers interconnect cell groups 'f' and 'x'. Ascending fibers from IVN terminate contralaterally in the TN and the OMC. In the monkey fibers from IVN terminate in the ipsilateral nodulus, uvula and anterior lobe vermis; no fibers project to FN in either the cat or the monkey. Afferents to the LVN arise primarily from the ipsilateral anterior lobe vermis and bilaterally from rostral parts of the FN. No commissural fibers interconnect the LVN. Projections of the LVN are primarily to spinal cord via the vestibulospinal tract (VST); collaterals of the VST terminate in the lateral reticular nucleus (LRN). Ascending uncrossed projections from LVN in the cat terminate in the medial rectus subdivision of the OMC.(ABSTRACT TRUNCATED AT 400 WORDS)     

Evidence for wide range of time scales in oculomotor plant dynamics: implications for models of eye-movement control

Oculomotor-plant dynamics are not well characterised, despite their importance for modelling eye-movement control. We analysed the time course of the globe's return after horizontal displacements in three rhesus monkeys lightly anaesthetised with ketamine. The eye-position traces were well fitted by a sum of four exponentials (time constants 0.012, 0.099, 0.46, 7.8 s). The two long time-constant terms accounted for 25% of plant compliance, and led to a model that accounted for hitherto unexplained features of ocular motoneuron firing such as (i) hysteresis, and (ii) the inability of a 2 time-constant model to fit data for both fast and slow eye-movements.     

Ultrastructural organization of muscle fiber types and their distribution in the rat superior rectus extraocular muscle

Extraocular muscles (EOMs) are unique as they show greater variation in anatomical and physiological properties than any other skeletal muscles. To investigate the muscle fiber types and to understand better the structure-function correlation of the extraocular muscles, the present study examined the ultrastructural characteristics of the superior rectus muscle of rat. The superior rectus muscle is organized into two layers: a central global layer of mainly large-diameter fibers and an outer C-shaped orbital layer of principally small-diameter fibers. Six morphologically distinct fiber types were identified within the superior rectus muscle. Four muscle fiber types, three single innervated fibers (SIFs) and one multiple innervated fiber (MIF), were recognized in the global layer. The single innervated fibers included red, white and intermediate fibers. They differed from one another with respect to diameter, mitochondrial size and distribution, sarcoplasmic reticulum and myofibrillar size. The orbital layer contained two distinct MIFs in addition to the red and intermediate SIFs. The orbital MIFs were categorized into low oxidative and high oxidative types according to their mitochondrial content and distribution. The highly specialized function of the superior rectus extraocular muscle is reflected in the multiplicity of its fiber types, which exhibit unique structural features. The unique ultrastructural features of the extraocular muscles and their possible relation to muscle function are discussed.     

麻痹性斜视183例临床分析

目的:探讨近年来麻痹性斜视的病因、麻痹肌分布和对视功能的影响。方法:对我院2009-03/2012-03住院行斜视矫正术的183例麻痹性斜视患者的病历资料进行回顾性研究。结果:先天性麻痹性斜视占80.87%,后天性麻痹性斜视占19.13%;原因不明者最多(77.60%),其次为外伤(14.21%)。垂直斜视中上斜肌麻痹占81.19%,下直肌麻痹占8.26%,上直肌麻痹占6.88%,下斜肌麻痹占2.29%,双上转肌麻痹占0.92%,双下转肌麻痹占0.46%。水平斜视中外直肌麻痹占54.17%,内直肌麻痹占45.83%。166例患者术前进行同视机检查,有双眼视功能患者占28.92%。结论:麻痹性斜视病因复杂,眼外肌中上斜肌最常累及,对双眼视功能有明显的影响,应尽早进行手术治疗。     

布比卡因在斜视治疗中应用的研究进展

布比卡因是长效酰胺类钠通道阻滞剂,除麻醉作用外,肌注后还能导致局部骨骼肌细胞变性、坏死、再生,使肌肉增粗、肌力增强,有研究者提出可以利用这一特性治疗斜视.目前,已有研究者对以共同性水平斜视为主的患者进行试治疗,大多数患者的眼位得到不同程度的改善,同时,亦有学者在病理学、分子生物学及细胞生物学等方面对布比卡因的作用机制进行研究.本文将对布比卡因在斜视领域的试用现状及可能的作用机制进行综述,以探讨未来的研究方向.