Macro/microscopic distribution of the dorsal nerve of penis in human glans penis

This study aimed to elucidate the macroscopic and microscopic distributions of the dorsal nerve of penis (DNP) that provides the greatest sensitivity over the glans penis. The glandes of 23 penises of formalin-embalmed cadavers were investigated to confirm the macroscopic and microscopic distributions of the DNP within the glans penis by whole-mount Sihler's staining and histological sectioning. Superficial regions of the mid-glans were reconstructed in three dimensions to define the microstructure of terminal branches of the DNP that project towards the skin surface. A mean of 6.7 bundles of the DNP consisting of several nerve fibres converged linearly towards the distal end of the penis, rather than diverging laterally as they travelled. Lateral branches of the DNP extended linearly to the distal end with ramifications, while dorsomedial branches of the DNP gave off nerve fibres to the dorsum of the mid-glans and the corona. The intrastromal ramifications of the DNP were more developed in the distal half of the glans penis than the proximal glans containing the corpus cavernosum. These ramifications gave rise to radial nerve fibres that project towards the skin surface to form a plexiform network of terminal branches in the dermis. Linear projections of the main branches of the DNP throughout the glans and fine networks of terminal branches in the dermis were distinctly visualized in the human penis.     

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.     

改良 Devine 术治疗儿童隐匿性阴茎治疗体会

目的：探讨采用改良 Devine 术治疗儿童隐匿性阴茎（CP）的临床效果及应用价值。方法：采用改良 Devine 术对46例CP 患儿进行矫治。结果：本组患儿的平均手术时间40.3±1.7min,术后平均阴茎长度较术前明显延长,手术有效率达100%,术后随访7～26个月,所有患儿的阴茎显露均明显改善,外观满意。结论：改良 Devine 术是治疗儿童 CP 的较佳手术方式,较好地克服传统 Devine 术式的缺陷,具有手术操作简单、安全,创伤小,并发症少,效果显著等特点。     

经阴道彩超在卵巢黄体血肿诊断中的临床价值

目的探讨经阴道彩超在卵巢黄体血肿诊断中的临床价值。方法对经阴道超声检查疑是黄体血肿的57例病例进行追踪观察,追踪时间1-6个月,了解病变的变化,对手术病例追踪病理结果。结果1-6个月后病变消失49例,手术8例,其中巧克力囊肿6例,黄体破裂2例。结论经阴道彩超检查对卵巢黄体血肿的诊断准确性较高（该组病例符合率89．5％）,可避免不必要的手术。