Development of Cerebellar Hypoplasia in Jaundiced Gunn Rats: A Morphological Study

Abstract The developmental process of cerebellar hypoplasia was investigated in homozygous (j/j) Gunn rats (born from heterozygous (+/j) mothers) with hereditary hyperbilirubinemia by light microscopy of Epon-embedded sections and Golgi preparations, electron microscopy and immunofluorescence with anti-SlOO protein immune serum. No abnormalities were found in the cerebellar cortex at postnatal day 1. But at day 3, some Purkinje cells contained whorled membranous inclusions, enlarged Golgi cisternae and vesicles, and/or dilated endoplasmic reticulum. Membranous inclusions filled the cytoplasm of a large number of Purkinje cells at day 10. These severely damaged Purkinje cells died and disappeared by day 30. The remaining Purkinje cells contained only a few membranous inclusions at day 30. At the adult stage, membranous inclusions were no longer detected in the remaining Purkinje cells. In these Purkinje cells, the dendrites were poorly developed and primitive synaptic junctions with parallel fibers were occasionally found on the dendritic shafts even at the adult stage. The perisomatic processes were often present on the remaining Purkinje cell soma from day 18 to the adult stage and were in synaptic contact with climbing fibers. The external granular layer was thinner in j/j than in +/j rats without hyperbilirubinemia at days 12 and 15 and disappeared at day 18 in j/j rats, i.e., earlier in j/j than in +/j rats. The molecular layer was thinner at day 10 and became slightly thicker thereafter. Cells in the molecular layer were scarce after day 12. The internal granular layer was thinner after day 12. An insufficient number of cells in the internal granular layer was apparent after day 12. Bergmann glia cells were hypertrophied after day 10 and filledthe spaces where Purkinje cells had disappeared. Subsequently, Bergmann fibers and astrocytes in the internal granular layer were hypertrophied after day 15. Thus, in the developmental process of cerebellar hypoplasia in j/j Gunn rats, Purkinje cell damage preceded the histogenetic abnormalities of the cortex including astrocytic changes.     

Hypoplasia of the epiglottis in a middle-aged man

Hypoplasia of the epiglottis diagnosed at adulthood is extremely rare. Most patients with epiglottic hypoplasia have presented life-threatening symptoms of respiratory distress and severe aspiration in infancy or early childhood. This is a case of congenital epiglottic hypoplasia found in a 42-year-old man complaining of mild hoarseness and throat discomfort. Strobolaryngoscopy and CT scans revealed a unique anomaly with isolated epiglottic hypoplasia and normal appearance of other laryngeal structures. This case is discussed with a review of the literature on this rare occurrence.     

Pontomedullary disconnection: fetal and neonatal considerations

The cerebellar and pontocerebellar hypoplasias present a unique challenge when detected in the developing fetus. A diverse aetiology and prognosis make counselling of these families difficult. Advances in fetal imaging allow for more accurate diagnosis and counselling, but postnatal MRI is still required. A case is presented in which cerebellar hypoplasia was detected at 20 weeks gestation. Later fetal imaging provided further information, but a diagnosis of pontomedullary disconnection was not made until the postnatal MRI scan. The clinical findings and possible causes of such pontocerebellar abnormalities are discussed.     

An infrarenal abdominal aortic coarctation

We describe a case of infrarenal abdominal coarctation in a 44-year-old woman who presented with severe uncontrolled hypertension. She had no signs of lower limb ischemia with normal distal pulses. Electron beam tomography revealed abdominal aortic coarctation extending from the superior mesenteric artery to the inferior mesenteric artery with a diameter of 9 mm. Also, at the level of coarctation, the aortic branches including the renal arteries were in a serpentine shape.     

复合姑息手术治疗肺动脉发育不良型先天性心脏病

目的 探讨复合姑息手术治疗合并难治性肺动脉发育不良的肺血减少型复杂先天性心脏病(先心病)临床经验.方法 对自2001年8月至2009年9月我院外科治疗的31例合并难治性肺动脉发育不良的肺血减少型复杂先心病患儿进行回顾性分析,其中合并室间隔缺损的肺动脉闭锁26例,其他合并肺动脉狭窄的复杂先心病5例.根据两侧肺动脉发育情况选择2种或2种以上的姑息手术:一侧肺动脉发育良好者行格林(Glenn)术;肺动脉发育较差者常规行改良Blalock-Taussig分流或改良Waterston分流术;肺动脉极度发育不良者采用改良Melbourne分流.对合并的粗大体肺侧支血管者行肺动脉融合或侧支血管结扎及封堵术.两侧均行体肺分流23例;一侧行体肺分流,另一侧行Glenn者8例.结果 术后早期1例死于心跳骤停,早期死亡率为3.2%,术后并发症包括低心排综合征5例,灌注肺3例,肺部感染3例.3例因分流管道堵塞而再次行分流手术.平均随访(25±16)(6～72)个月,与术前比较,左肺动脉指数(14.9±6.2比8.1±3.7)、右肺动脉指数(17.7±7.8比12.7±8.1)和肺动脉指数(32.6±11.7比20.9±9.4)均显著提高,差异均有统计学意义(均P＜0.001),与术前比较,Blalock-Taussig分流术(7.0±2.0比5.5±1.0)、改良Waterston分流术(9.2±3.6比5.7±4.0)和Melbourne分流术(7.4±2.5比2.2±0.4)术后肺动脉直径均增加,差异均有统计学意义(均P＜0.05),两侧肺动脉均明显发育,血红蛋白浓度和末梢血氧饱和度分布由术前的(194±27)g/L和(65±11)%改善至(174±24)g/L(P＜0.05)和(84±6)%(P＜0.001).4例肺动脉发育良好,已行二期矫治手术,另1例术后2年完成了二期Glenn手术.结论 对合并难治性肺动脉发育不良的肺血减少型复杂先心病,外科治疗应遵循个性化原则,不管是作为根治手术前的过渡治疗,还是最终治疗,复合姑息手术都是值得推荐的一种术式选择.     

Bilateral implantation in children with cochleovestibular nerve hypoplasia

To report on the outcomes of sequential bilateral cochlear implantation (CI) in children with inner ear malformation. The study design is a retrospective case study. The setting is a tertiary reference center. Two children presenting a profound bilateral congenital hearing loss with bilateral hypoplasia of the cochleovestibular nerves and hypoplasic external semicircular canal had a cochlear implant at respectively 16 months and 33 months. A second implant was proposed at respectively 17 and 20 months after the first implant. The main outcome measures are audiometry, perceptive results in closed and open set words (CSW and OSW) and oral production at follow-up. The first cochlear implant gave respectively mean thresholds at 60 dB and 70 dB. Bilateral CI showed mean threshold at respectively 40 dB and 55 dB. In case 1, perceptive assessment was 83% and 70% in respectively CSW and OSW with oral production and comprehension of sentences after 1 year follow-up. In case 2, the perceptive assessment showed no perceptive or linguistic evolution at 6 months follow-up. In cochleovestibular nerve hypoplasia, bilateral implantation could be discussed in cases of limited result after unilateral implant.     

促黄体激素受体突变导致的性器官发育异常

Testosteroneisobligatoryforthedevelopmentofmaleinternalandexternalgenitalia ,andfortheestab lishmentofsecondarysexualcharacteristicsduringpu berty .Testosteroneisalmostexclusively (morethan95 % )oftesticularorigin .Undernormalphysiologicalconditions ,Leyd…     

Total Anomalous Pulmonary Venous Drainage to Coronary Sinus Combined with Left‐sided Obstructive Lesions: A Previously Unreported Association

We present a very rare cardiac lesion where we found a combination of abnormal pulmonary venous drainage and left‐sided obstructive lesions. This case gives new insight into the complex malformation of the heart, raising questions about cardiac embryology and timing of interfering events. Here we describe the lesion for the first time and review the related literature. To the best of our knowledge, this combination has never been reported.     

Invasive Lobular Carcinoma in a Hypoplastic Breast

Breast hypoplasia is encountered as part of genetic syndromes or as a result of iatrogenic factors. The incidence of this malformation and the occurrence of breast carcinoma in such cases are unknown. The authors present a 66-year-old patient with a severe breast hypoplasia and invasive lobular carcinoma. The advanced clinical stage required neoadjuvant chemotherapy. After 5 CMF cycles with no significant effect, a modified radical mastectomy with axillary lymph node dissection was performed. The pathological report revealed an infiltrating lobular carcinoma with combined classical and alveolar growth and with minor morphological changes after the chemotherapy. Immunostaining for cell proliferation markers, apoptotic regulators, and cell adhesion molecules, such as the CD44 family and members of the cadherin-catenin group, was performed. The tumor expressed a high bcl-2/low bax ratio and lacked p53 immunoreactivity, which could explain the resistance to neoajuvant therapy. The lack of adhesion molecules, except for strong E-cadherin and &#103 -catenin reactivity, and weak CD44v6 expression were demonstrated. To the authors' knowledge this is the first case of an invasive lobular carcinoma in a hypoplastic breast reported in the English literature.     

Bilateral total ovarian hypoplasia in a Holstein Friesian heifer

A report of a female Holstein Friesian heifer with ovarian hypoplasia is presented. The heifer had normal female external genitalia, but showed neither estrus nor became pregnant after siring with a fertile bull. At necropsy the vagina, uterine body and uterine horns appeared normal. Bilateral streak structures surrounded by mesovarium were observed and dissected for further investigation. Histological investigation revealed that a case of bilateral total ovarian hypoplasia was the cause of infertility. This is the first published report of ovarian hypoplasia from Antalya province in Turkey.