免疫细胞在黄体发育及退化过程中的作用

在哺乳动物卵巢中,黄体是一个重要的内分泌组织,在生殖周期调控与早期妊娠建立的过程中具有举足轻重的作用。在研究黄体发育及其分子调控过程中,我们发现多种类型的免疫细胞存在于黄体,如T淋巴细胞、巨噬细胞、中性粒细胞和嗜酸性粒细胞。这些免疫细胞在黄体发育阶段中积累、支持血管生成和孕激素生产,从而参与黄体功能调节。在黄体退化过程中,前列腺素F2α可以刺激细胞炎性因子和趋化因子的产生,这些因子使免疫细胞进入黄体,并通过炎症反应,增强黄体分解,参与黄体退化过程。因此,本文根据课题组前期研究结果,综述了不同类型的免疫细胞在哺乳动物黄体发育及退化过程中的作用,旨在进一步理解卵巢黄体生物学,同时为临床黄体功能操控提供参考。     

Luteal phase support in intrauterine insemination cycles: a prospective randomized study of 300 mg versus 600 mg intravaginal progesterone tablet

Vaginal progesterone (P) has been suggested to be used for luteal phase support (LPS) in controlled ovarian stimulation (COH)–intrauterine insemination (IUI) cycles, however, no concensus exists about the best P dose. Therefore, considering the fecundability rate as the primary end point, our main objective was to find the optimal dose of P in COH–IUI cycles, comparing the two groups of women, each of which comprised of 100 women either on 300?mg or 600?mg of intravaginal P tablets, in a prospective randomized study design. The mean age of the women, duration of infertility, basal and day of hCG injection hormone levels in the female and sperm parameters were similar in the two study groups. Also, duration and dose of gonadotropin given, number of follicles, endometrial thickness, the total, ongoing and multiple pregnancy rates were comparable in both groups. We, therefore, claim that 300?mg of intravaginal micronized P should be the maximum dose of LPS in IUI cycles.     

Marked elevation of interleukin-6 in mild encephalopathy with a reversible splenial lesion (MERS) associated with acute focal bacterial nephritis caused by Enterococcus faecalis

This report describes two cases of mild encephalitis/encephalopathy with reversible splenial lesion (MERS) associated with acute focal bacterial nephritis (AFBN). The patients, who presented with fever and delirious behavior, exhibited hyponatremia and markedly elevated interleukin (IL)-6 in cerebrospinal fluid (CSF) and serum. Enterococcus faecalis was detected in the urine culture. After ampicillin treatment, their consciousness improved without neurological sequelae. Moreover, a diffusion-weighted MRI abnormality, i.e., intensified signals in splenium of the corpus callosum, disappeared. MERS is a possible complication of AFBN. Elevated CSF IL-6 levels suggest that remote activation of intracerebral immune response through the immune–neuroendocrine pathway might play an important role in the pathophysiology of MERS.     

Different patterns of cerebellar abnormality and hypomyelination between POLR3A and POLR3B mutations

Background

Mutations of POLR3A and POLR3B have been reported to cause several allelic hypomyelinating disorders, including hypomyelination with hypogonadotropic hypogonadism and hypodontia (4H syndrome). Patients and methods: To clarify the difference in MRI between the two genotypes, we reviewed MRI in three patients with POLR3B mutations, and three with POLR3A mutations. Results: Though small cerebellar hemispheres and vermis are common MRI findings with both types of mutations, MRI in patients with POLR3B mutations revealed smaller cerebellar structures, especially vermis, than those in POLR3A mutations. MRI also showed milder hypomyelination in patients with POLR3B mutations than those with POLR3A mutations, which might explain milder clinical manifestations. Conclusions: MRI findings are distinct between patients with POLR3A and 3B mutations, and can provide important clues for the diagnosis, as these patients sometimes have no clinical symptoms suggesting 4H syndrome.     

胼胝体病变-肝豆状核变性的少见脑部影像学表现

目的研究肝豆状核变性患者胼胝体病变及其临床价值。方法收集3例肝豆状核变性患者的临床及影像资料,参照2001年第八届莱比锡肝豆状核变性国际会议制定的诊断评分系统评分。利用磁共振成像(MRI)技术检查胼胝体压部病变。结果 3例患者均存在胼胝体压部病变,但均无胼胝体病变所致的失连接综合征表现。头颅MRI技术提示3例患者胼胝体病变主要为长T2异常信号、FLAIR像稍高信号,其中1例DWI呈高信号。出现胼胝体病变的3例肝豆状核变性患者均病情较重、脑部损伤弥漫(尾状核、壳核、苍白球、丘脑、中脑及桥脑)。结论胼胝体病变为肝豆状核变性患者少见的影像学表现,若在有典型基底节病变的同时还伴有胼胝体病变则高度支持肝豆状核变性的诊断。胼胝体病变也提示患者病情较重、脑部损伤弥漫,预后相对较差。     

Facial emotion recognition in agenesis of the corpus callosum

Background

Impaired social functioning is a common symptom of individuals with developmental disruptions in callosal connectivity. Among these developmental conditions, agenesis of the corpus callosum provides the most extreme and clearly identifiable example of callosal disconnection. To date, deficits in nonliteral language comprehension, humor, theory of mind, and social reasoning have been documented in agenesis of the corpus callosum. Here, we examined a basic social ability as yet not investigated in this population: recognition of facial emotion and its association with social gaze.

Methods

Nine individuals with callosal agenesis and nine matched controls completed four tasks involving emotional faces: emotion recognition from upright and inverted faces, gender recognition, and passive viewing. Eye-tracking data were collected concurrently on all four tasks and analyzed according to designated facial regions of interest.

Results

Individuals with callosal agenesis exhibited impairments in recognizing emotions from upright faces, in particular lower accuracy for fear and anger, and these impairments were directly associated with diminished attention to the eye region. The callosal agenesis group exhibited greater consistency in emotion recognition across conditions (upright vs. inverted), with poorest performance for fear identification in both conditions. The callosal agenesis group also had atypical facial scanning (lower fractional dwell time in the eye region) during gender naming and passive viewing of faces, but they did not differ from controls on gender naming performance. The pattern of results did not differ when taking into account full-scale intelligence quotient or presence of autism spectrum symptoms.

Conclusions

Agenesis of the corpus callosum results in a pattern of atypical facial scanning characterized by diminished attention to the eyes. This pattern suggests that reduced callosal connectivity may contribute to the development and maintenance of emotion processing deficits involving reduced attention to others'' eyes.     

中药益坎胶囊对动脉性勃起功能障碍大鼠阴茎海绵体平滑肌细胞表型转化的影响

目的:探讨中药益坎胶囊对动脉性勃起功能障碍(ED)大鼠阴茎海绵体平滑肌细胞表型转化的影响,以揭示益坎胶囊治疗ED的机制。方法:选取SD大鼠50只,其中10只设为正常组,另40只通过结扎双髂内动脉造成动脉性ED模型。造模后将其中10只设为模型对照组,其余30只灌胃给予ED治疗中药益坎胶囊,浓度分别为1.88、0.94、0.47 g/kg。给药1个月后,经腹腔注射阿朴吗啡,观察大鼠呵欠次数和阴茎勃起次数;切取大鼠的阴茎组织标本,通过免疫组化法观测海绵体平滑肌细胞收缩型性标志物碱性调宁蛋白(calponin 1)和合成型标志物骨桥蛋白(OPN)的表达,实验组结果与正常组和对照组进行比较。结果:注射阿朴吗啡后,正常组大鼠勃起次数为(4.48±1.25)次,模型对照组为(1.63±0.22)次,两组比较,差异有统计学意义(P0.01);给药后,中药益坎胶囊高、中、低剂量组大鼠勃起次数有明显改善[高剂量:(3.05±1.37)次;中剂量:(2.98±0.16)次;低剂量:(1.75±0.40)次]。免疫组化结果显示,模型对照组大鼠海绵体平滑肌细胞calponin 1表达减少,而OPN表达增多,与正常组相比差异有统计学意义(P0.05);与模型对照组相比,给药后,中药益坎胶囊高、中、低剂量组大鼠海绵体平滑肌细胞calponin 1表达增多,OPN表达减少。结论:中药益坎胶囊能改善动脉性ED大鼠的勃起功能,抑制海绵体平滑肌细胞表型由收缩型向合成型转化。     

A switch from inter‐ocular to inter‐hemispheric suppression following monocular deprivation in the rat visual cortex

Binocularity is a key property of primary visual cortex (V1) neurons that is widely used to study synaptic integration in the brain and plastic mechanisms following an altered visual experience. However, it is not clear how the inputs from the two eyes converge onto binocular neurons, and how their interaction is modified by an unbalanced visual drive. Here, using visual evoked potentials recorded in the juvenile rat V1, we report evidence for a suppressive mechanism by which contralateral eye activity inhibits responses from the ipsilateral eye. Accordingly, we found a lack of additivity of the responses evoked independently by the two eyes in the V1, and acute silencing of the contralateral eye resulted in the enhancement of ipsilateral eye responses in cortical neurons. We reverted the relative cortical strength of the two eyes by suturing the contralateral eye shut [monocular deprivation (MD)]. After 7 days of MD, there was a loss of interocular suppression mediated by the contralateral, deprived eye, and weak inputs from the closed eye were functionally inhibited by interhemispheric callosal pathways. We conclude that interocular suppressive mechanisms play a crucial role in shaping normal binocularity in visual cortical neurons, and a switch from interocular to interhemispheric suppression represents a key step in the ocular dominance changes induced by MD. These data have important implications for a deeper understanding of the key mechanisms that underlie activity‐dependent rearrangements of cortical circuits following alteration of sensory experience.     

Myxoid glioneuronal tumor,PDGFRA p.K385‐mutant: clinical,radiologic, and histopathologic features

“Myxoid glioneuronal tumor, PDGFRA p.K385‐mutant” is a recently described tumor entity of the central nervous system with a predilection for origin in the septum pellucidum and a defining dinucleotide mutation at codon 385 of the PDGFRA oncogene replacing lysine with either leucine or isoleucine (p.K385L/I). Clinical outcomes and optimal treatment for this new tumor entity have yet to be defined. Here, we report a comprehensive clinical, radiologic, and histopathologic assessment of eight cases. In addition to its stereotypic location in the septum pellucidum, we identify that this tumor can also occur in the corpus callosum and periventricular white matter of the lateral ventricle. Tumors centered in the septum pellucidum uniformly were associated with obstructive hydrocephalus, whereas tumors centered in the corpus callosum and periventricular white matter did not demonstrate hydrocephalus. While multiple patients were found to have ventricular dissemination or local recurrence/progression, all patients in this series remain alive at last clinical follow‐up despite only biopsy or subtotal resection without adjuvant therapy in most cases. Our study further supports “myxoid glioneuronal tumor, PDGFRA p.K385‐mutant” as a distinct CNS tumor entity and expands the spectrum of clinicopathologic and radiologic features of this neoplasm.     

A 14q distal chromoanagenesis elucidated by whole genome sequencing

Chromoanagenesis represents an extreme form of genomic rearrangements involving multiple breaks occurring on a single or multiple chromosomes. It has been recently described in both acquired and rare constitutional genetic disorders. Constitutional chromoanagenesis events could lead to abnormal phenotypes including developmental delay and congenital anomalies, and have also been implicated in some specific syndromic disorders. We report the case of a girl presenting with growth retardation, hypotonia, microcephaly, dysmorphic features, coloboma, and hypoplastic corpus callosum. Karyotype showed a de novo structurally abnormal chromosome 14q31qter region. Molecular characterization using SNP-array revealed a complex unbalanced rearrangement in 14q31.1-q32.2, on the paternal chromosome 14, including thirteen interstitial deletions ranging from 33 kb to 1.56 Mb in size, with a total of 4.1 Mb in size, thus suggesting that a single event like chromoanagenesis occurred. To our knowledge, this is one of the first case of 14q distal deletion due to a germline chromoanagenesis. Genome sequencing allowed the characterization of 50 breakpoints, leading to interruption of 10 genes including YY1 which fit with the patient's phenotype. This precise genotyping of breaking junction allowed better definition of genotype-phenotype correlations.