Search results for " histopathology"
showing 5 items of 15 documents
Muscle Histopathological Abnormalities in a Patient With a CCT5 Mutation Predicted to Affect the Apical Domain of the Chaperonin Subunit.
2022
Recognition of diseases associated with mutations of the chaperone system genes, e.g., chaperonopathies, is on the rise. Hereditary and clinical aspects are established, but the impact of the mutation on the chaperone molecule and the mechanisms underpinning the tissue abnormalities are not. Here, histological features of skeletal muscle from a patient with a severe, early onset, distal motor neuropathy, carrying a mutation on the CCT5 subunit (MUT) were examined in comparison with normal muscle (CTR). The MUT muscle was considerably modified; atrophy of fibers and disruption of the tissue architecture were prominent, with many fibers in apoptosis. CCT5 was diversely present in the sarcolem…
Mucosal Neuroma Syndrome without mutations of the RET-protooncogene: A histologic study on a case, supported by molecular genetic analysis.
2010
Mucosal neuromas are nerve hamartomas of the digestive tract and larynx, usually observed in the setting of Multiple Endocrine Neoplasia type 2B (MEN2B), i.e. in the presence of typical mutations and in association with medullary thyroid carcinoma, pheochromocytoma and marfanoid habitus. Exceptionally, they arise without the accompanying mutations and endocrine tumors, and in this paper we are reporting a histologic study on a case lacking the specific mutations. The patient was an adolescent girl with marfanoid habitus, with a left-sided epidermal nevus of the neck, and a bulging left upper lip and cheek. The left side of her tongue was considerably enlarged and studded with multiple protr…
Tick Bites - the View from Inside-Out
2009
The tick feeding process in humans and its effects on the host skin have been studied histologically on specimens of tick bites, some of which included the attached parasite, and on ticks extracted from lesions or caught in the wild. The specimens, included in paraffin, were stained with hematoxylin-eosin, orcein–Giemsa for elastic fibers, periodic acid-Schiff for polysaccharides, Weigert method for fibrin, Warthin-Starry stain for spirochetes, and Bodian’s method for nerve fibers. The mouthparts of the attached ticks were embedded in a cement cone, with the chelicerae and the hypostome lining the oral canal, while the basis capituli contained the pharynx with its anti-reflux valves, the hy…
Histologic analysis of specimens from laparoscopic endometrioma excision performed by different surgeons: does the surgeon matter?
2011
Objective To evaluate whether the amount of ovarian tissue inadvertently removed along with the endometrioma cyst wall at laparoscopy differs in relation to the operating surgeon's level of expertise. Design Multicenter, prospective trial. Setting Four tertiary care university hospitals. Patient(s) Fifty patients, aged 25 to 40 years, with monolateral ovarian endometriomas who underwent laparoscopic excision. Intervention(s) Operation with the stripping technique by surgeons with specific expertise in endometriosis surgery in four centers (groups A, B, C, and D) and by residents with average training in laparoscopic surgery (group E). Main Outcome Measure(s) Histologic examination for the e…
TP53 mutations and S-phase fraction but not DNA-ploidy are independent prognostic indicators in laryngeal squamous cell carcinoma
2005
To prospectively evaluate the prognostic significance of TP53, H-, K-, and N-Ras mutations, DNA-ploidy and S-phase fraction (SPF) in patients affected by locally advanced laryngeal squamous cell carcinoma (LSCC). Eight-one patients (median follow-up was 71 months) who underwent resective surgery for primary operable locally advanced LSCC were analyzed. Tumor DNA was screened for mutational analysis by PCR/SSCP and sequencing. DNA-ploidy and SPF were performed by flow cytometric analyses. Thirty-six patients (44%) had, at least, a mutation in the TP53 gene. Of them, 22% (8/36) had double mutations and 3% (1/36) had triple mutations. In total, 46 TP53 mutations were observed. The majority (41…