Amyloidoma of the Tongue: Case Report, Surgical Management, and Review of the Literature.

Purpose: Localized amyloidosis of the tongue is a benign condition in which surgical management may be considered. The aim of the study was to review the current literature and report a case.

Materials And Methods: We searched the PubMed database for all relevant articles reporting cases of localized tongue amyloidosis published between 1980 and February 2020.

Ovarian borderline tumors, a subtype of neoplasm with controversial behavior. Role of Ki67 as a prognostic factor.

Introduction: Ovarian borderline tumors (OBT) are tumors with an intermediate grade of malignancy whose diagnosis is purely based on morphological criteria. They usually occur in young women (under 40 years) and are characterized by a cellular proliferation with slight nuclear atypia and lacking stromal invasion with a destructive pattern. Aim of this study was to explore the immunohistochemical expression of Ki67 proliferative index in OBT and to correlate it with known clinicopathologic prognostic factors in patients older than 40 years.

Lung structure and function similarities between primary ciliary dyskinesia and mild cystic fibrosis: a pilot study.

Background: Primary ciliary dyskinesia (PCD) and cystic fibrosis (CF) are increasingly compared. There are no chest magnetic resonance imaging (MRI) comparative studies of PCD and CF. We assessed clinical, functional, microbiological and MRI findings in PCD and mild CF patients in order to evaluate different expression of lung disease.

White matter involvement in a family with a novel PDGFB mutation.

Primary familial brain calcification (PFBC) (formerly idiopathic basal ganglia calcification; Fahr disease) is an autosomal dominant cerebral microvascular calcifying disorder with variable clinical and imaging features.(1) Four causative genes have been identified: SLC20A2,(2) PDGFRB,(3) PDGFB,(4) and XPR1.(5).

Essential role of ultrastructural examination for spindle cell oncocytoma: Case report of a rare neoplasm and review of the literature.

Spindle cell oncocytoma (SCO) is an extremely rare neoplasm of the sellar region recognized as a distinct benign histopathological subtype of pituitary tumors in the 2007 World Health Organization classification of tumors of the central nervous system. The morphology of its neoplastic cells (spindle cells and granular eosinophilic cytoplasm) is common to several other lesions so that immunohistochemistry, together with ultrastructural examination, becomes essential in solving this differential diagnosis. Despite being labeled as benign, recurrence is described.

A disorder of surfactant metabolism without identified genetic mutations.

Background: Surfactant metabolism disorders may result in diffuse lung disease in children.

Case Presentation: We report a 3-years-old boy with dry cough, progressive hypoxemia, dyspnea and bilateral ground glass opacities at chest high-resolution computed tomography (HRCT) who had no variants in genes encoding surfactant proteins or transcription factors. Lung histology strongly suggested an abnormality of surfactant protein.

Are granular osmiophilic material deposits an epiphenomenon in CADASIL?

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the NOTCH3 gene. Pathophysiologically, there seems to be multimerization of the extracellular domain of the protein with a possible gain of function on vascular smooth muscular cells. However, the mechanisms and determinants of NOTCH3 multimerization are not completely understood, and it is not completely elucidated whether NOTCH3 multimerization contributes to the appearance of granular osmiophilic material (GOM) deposits, which are the pathological hallmark of CADASIL.

Comparison of Left Ventricular Myocardial Structure and Function in Patients with Aortic Stenosis and Those with Pure Aortic Regurgitation.

Objective: We aimed to support the structural and functional distinction between aortic stenosis (AS) and aortic regurgitation (AR).

Methods: Biopsy specimens taken from 70 selected patients (35 with AS and 35 with AR) undergoing aortic valve replacement (AVR) were analyzed for their cardiomyocyte dimensions and structure, interstitial fibrosis and contractile function. To determine normal values of contractile function, 10 donor hearts were analyzed.

Hypomorphic NOTCH3 mutation in an Italian family with CADASIL features.

The cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is because of NOTCH3 mutations affecting the number of cysteine residues. In this view, the role of atypical NOTCH3 mutations is still debated. Therefore, we investigated a family carrying a NOTCH3 nonsense mutation, with dominantly inherited recurrent cerebrovascular disorders.

Melt-spun bioactive sutures containing nanohybrids for local delivery of anti-inflammatory drugs.

In this work, a novel concept is introduced in drug-eluting fibres to ensure a good control of drug delivery features and wide applicability to different bioactive compounds. Composite bioactive sutures based on fibre grade poly(ε-caprolactone) (PCL) and loaded with the anti-inflammatory drug Diclofenac (Dic) or a Dic nanohybrid where the drug is intercalated in a synthetic hydrotalcite (Mg/Al hydroxycarbonate) (HT-Dic) were developed. Fibres were prepared by melt-spinning at different PCL/HT-Dic/Dic ratios and analysed in terms of morphology, mechanical properties and drug release features.

Acinic cell carcinoma of the breast arising in microglandular adenosis.

Acinic cell carcinoma is a rare breast tumour belonging to salivary gland-like tumours of the breast. They are "triple-negative" breast cancers even if their biological behaviour seems to be more favourable. Herein we present an acinic cell carcinoma arising on a background of typical and atypical microglandular adenosis in a 58-year-old woman, along with a review of the literature.

Cytological and histological detection of amyloid deposits in bone marrow of patients affected by multiple myeloma.

We recently published a study aiming to verify the frequency of amyloid deposits in the bone marrow of patients with multiple myeloma (MM) who did not present any signs or symptoms of systemic amyloidosis, applying the Congo red technique on bone marrow smears obtained by aspiration from the posterior iliac spine. The results suggested that nearly 40% of patients affected by MM may have amyloid deposits in their bone marrow. Subsequently, this finding has not been confirmed by another study performed with histological specimens of bone marrow in a similar clinical setting.

22-year-old girl with status epilepticus and progressive neurological symptoms.

A 22-year-old girl presented with convulsive status epilepticus and a previous history of recurrent seizures, myoclonus, ataxia and impaired cognitive functions. Neurological examination revealed rest and action-induced myoclonus, pyramidal signs and opposition hypertonia. Testing revealed severe metabolic acidosis, elevated transaminases and creatine kinase, and respiratory insufficiency.

A case of pure uterine lipoma: immunohistochemical and ultrastructural focus.

Background: Pure uterine lipoma is a rare clinical event and only a few cases have been reported in literature. The histogenesis of these lesions is still debatable. Preoperative diagnosis is difficult and should be pathologically confirmed postoperatively.

Typical progression of myoclonic epilepsy of the Lafora type: a case report.

Background: A 20-year-old woman presented to a specialist epilepsy center with a 3-year history of drug-resistant epileptic seizures, progressive myoclonus, ataxia, and cognitive decline.

Investigations: Neurological examination, neuropsychological testing, electrophysiological studies, skin biopsy, MRI, genetic testing, and autopsy.

Diagnosis: Lafora disease (EPM2), resulting from a homozygous missense mutation in EPM2B (NHLRC1; c205C>G; Pro69Ala).

Clinical phenotype of lathosterolosis.

Lathosterolosis (LS) is a defect of cholesterol biosynthesis due to the deficiency of the enzyme sterol-C5-desaturase. Only two patients have been described to date, both presenting with multiple malformations, mental retardation, and liver involvement. In addition in one of them pathological examination revealed mucolipidosis-like inclusions on optic microscopy analysis, and peculiar lysosomal lamellar bodies on electron microscopy analysis.