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. Full neuropathological characterization has not been reported to date despite the description of >100 SPG11 mutations. We describe here the clinical and pathological features observed in two unrelated females, members of genetically ascertained SPG11 families originating from Belgium and Italy, respectively. We confirm the presence of lesions of motor tracts in medulla oblongata and spinal cord associated with other lesions of the central nervous system. Interestingly, we report for the first time pathological hallmarks of SPG11 in neurons that include intracytoplasmic granular lysosome-like structures mainly in supratentorial areas, and others in subtentorial areas that are partially reminiscent of those observed in amyotrophic lateral sclerosis, such as ubiquitin and p62 aggregates, except that they are never labelled with anti-TDP-43 or anti-cystatin C. The neuropathological overlap with amyotrophic lateral sclerosis, associated with some shared clinical manifestations, opens up new fields of investigation in the physiopathological continuum of motor neuron degeneration.

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. METHODS: We performed a randomized, double-blind, placebo-controlled clinical trial, in patients with enterostomy performed for inflammatory bowel disease, colorectal cancer or diverticulitis. Twenty patients were randomly allocated to receive 30ml of sodium butyrate 600mmol/L (group A) or saline (group B), b.i.d. for 30 days. RESULTS: In group A endoscopic scores were significantly improved (p<0.01) while mucosal atrophy was reduced or unchanged; in group B mucosal atrophy was increased in 42.8% of patients. Despite the high dose of butyrate used, no short-chain fatty acids were detectable by gas chromatography-mass spectrometry in colorectal biopsies. Group A patients showed up-regulation of genes associated with mucosal repair such as Wnt signalling, cytoskeleton regulation and bone morphogenetic protein-antagonists. CONCLUSION: Butyrate enemas may prevent the atrophy of the diverted colon/rectum, thus improving the recovery of tissue integrity.

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. Initially reported slides were reviewed blind by two histopathologists, who were not provided with any surgical details. The issued reports and those of the reviewing pathologists were then compared. RESULTS: Of the 90 reviewed polyp slides, there was complete agreement on the initial issued report in all cases. CONCLUSIONS: Removal of endometrial polyps in an office setting using mechanical instruments, bipolar electrode or a hysteroscopic morcellator provides adequate tissue for histological diagnosis, and there is no difference between these three techniques for adequacy of histological examination, despite the effects of thermal injury or tissue fragmentation.

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.

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. All specimens sampled during subsequent follow-up demonstrated inactive endometrium with pseudodecidual changes, and no ultrasonographic or magnetic resonance (MR) images exhibiting myometrial invasion or endoabdominal spread were observed. This successful outcome suggests that insertion of a levonorgestrel-releasing intrauterine system is a treatment option in selected young women with early-stage EAC who are not candidates for systemic therapy and who wish to maintain fertility potential. Close histologic follow-up is required, and immediate surgery is mandatory if endometrial cancer persists.