Ricerc@Sapienza

Primary mitochondrial myopathies (PMM) are a group of mitochondrial disorders characterized by a predominant skeletal muscle involvement. The aim of this study was to evaluate whether the biochemical profile determined by Fourier-transform infrared (FTIR) spectroscopic technique would allow to distinguish among patients affected by progressive external ophthalmoplegia (PEO), the most common PMM presentation, oculopharyngeal muscular dystrophy (OPMD), and healthy controls. Thirty-four participants were enrolled in the study.

Tumors of the parapharyngeal space are rare entities that represent less than 1 % of all head and neck neoplasms. Parapharingeal masses may represent a relevant differential diagnostic challenge for clinicians. The common benign character of these conditions does not exclude malignancy, such as in this case in which malignant transformation was observed.

Purpose:The differential diagnosis between primary adenocarcinoma of the pancreas head and distalcholangiocarcinoma remains a clinical challenge. Recent studies have shown important differences in terms ofsurvival between these tumors. Therefore, different treatments should be considered, but the preoperativehistological diagnosis is still difficult.

Intravascular papillary endothelial hyperplasia (IPEH), also known as Masson's tumour, is an unusual vascular lesion characterized by the proliferation of endothelial cells. The principal significance of IPEH is its clinical and radiological resemblance to angiosarcoma, resulting in a potential misdiagnosis and overtreatment. The aim of the present study is to report a rare case of IPEH of the right maxillary sinus, focusing on the radiological and histopathological features of the neoplasm and their role in the differential diagnosis with angiosarcoma.

Background: The diagnosis of Coeliac disease (CD) requires a combination of sign/symptoms, positivity of specific antibodies and duodenal histological evidence of villous atrophy. Duodenal villous atrophy, despite representing the CD landmark, is not specific since it is found in many gastrointestinal disorders. Giardiasis is one of the most common human intestinal protozoan infestations in industrialized countries whose histological duodenal mucosa damage could mimic that of CD. The present report shows how a wise clinical and laboratory assessment led us shortly to a correct diagnosis.

Given the heterogeneous nature of frontotemporal dementia (FTD), sensitive biomarkers are greatly needed for the accurate diagnosis of this neurodegenerative disorder. Circulating miRNAs have been reported as promising biomarkers for neurodegenerative disorders and processes affecting the central nervous system, especially in aging.

Angioleiomyoma (ALM) is a benign tumor of the skin and soft tissues composed of well differentiated smooth muscle cells arranged around and among many vascular channels. Few cases have been reported in the sinonasal region, where ALM may show a variable amount of mature adipose tissue that may make hard the distinction from angiomyolipoma.

Lingual cyst with respiratory epithelium (LCRE) is a very rare congenital cyst of the tongue, floor of the mouth, pharynx or hypopharynx with 21 cases reported in the literature (1, 2). Differential diagnosis is very important for patients presenting with lingual cysts, as this may impact treatment and follow-up. LCRE should be included in the different diagnosis of dermoid cyst (3), teratoid cyst (4), epidermoid cyst (5), thyroglossal duct cyst (6), lymphoepithelial cyst (7), mucocele or ranula (8).

Hypogammaglobulinemias are characterized by low or deficient levels of any of the
immunoglobulins (IgG, IgA, IgM, IgE, and IgG subclasses). This condition repre-
sents a diagnostic challenge for clinicians, due to its association with many patho-
logical entities with different manifestations and outcomes. At the initial evaluation,
several factors should be considered to correctly recognize the possible cause of
hypogammaglobulinemia, including age of onset, sex, number and type immuno-