Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions.

The most common form of autosomal recessive hereditary spastic paraplegia is caused by mutations in the SPG11/KIAA1840 gene on chromosome 15q. The nature of the vast majority of SPG11 mutations found to date suggests a loss-of-function mechanism of the encoded protein, spatacsin. The SPG11 phenotype is, in most cases, characterized by a progressive spasticity with neuropathy, cognitive impairment and a thin corpus callosum on brain MRI.

Effect of butyrate enemas on gene expression profiles and endoscopic/histopathological scores of diverted colorectal mucosa: A randomized trial.

Background: A temporary stoma is often created to protect a distal anastomosis in colorectal surgery. Short-chain fatty acids, mainly butyrate, are the major fuel source for the epithelium and their absence in the diverted tract may produce mucosal atrophy and inflammation.

Aims: To investigate whether the administration of sodium butyrate enemas (Naburen(©), Promefarm, Italy) could prevent mucosal inflammation and atrophy and affect gene expression profiles after ileo/colostomy.

Hysteroscopic polypectomy in an office setting: specimen quality assessment for histopathological evaluation.

Objective: Polypectomy under hysteroscopic guidance is the treatment of choice for most endometrial polyps, but mechanical or electrical effects at the time of surgery may result in artifactual displacement of tissue with obvious resultant diagnostic problems. The purpose of this study was to record qualitative and quantitative histopathological artifacts and to assess differences between artifacts found in specimens obtained by different surgical polypectomy techniques.

Study Design: During the period from November 2012 to March 2013, 90 retrospective consecutive polyp histopathological slides and their reports were identified for this study.

Levonorgestrel-releasing intrauterine system alone as primary treatment in young women with early endometrial cancer: case report.

Young women with polycystic ovary syndrome (PCOS) are at increased risk of endometrial adenocarcinoma (EAC) through chronic unopposed estrogen production. We describe the first case, to our knowledge, of grade 1 endometrioid EAC arising in the context of complex atypical endometrial hyperplasia in a 26-year-old woman with thrombophilia and PCOS who wished to retain fertility potential and was treated using a levonorgestrel-releasing intrauterine system alone. At first follow-up biopsy, a single focus of complex hyperplasia without atypia was documented.

Skin-type adnexal tumor with trichoblastic germinative differentiation in the breast: a case report.

Adnexal tumors with follicular differentiation in the breast parenchyma are rarely encountered. The authors present a unique case arising in a 64-year-old woman, in whom they observed composite differentiation toward follicular germinative cells of the hair follicle with focal areas of outer root sheath differentiation and pilar-type keratinization. The histogenesis of this tumor is analyzed in light of the peculiar pathological, immunohistochemical, and molecular genetic findings.