BACKGROUND: We estimated plasma amyloid-peptides levels (Aβ1-42 and Aβ1-40) as diagnostic biomarker of Alzheimer\'s disease (AD) and evaluated its association with clinical severity and 18F-fluorodeoxyglucose positron emission tomography (18F-FDG PET) Z score of the different brain regions in the Indian population.
METHODS: A case-control study was conducted. Diagnostic and statistical manual-IV, Dubois, and NIA-AA criteria were used for the diagnosis of AD. The plasma Aβ1-42 and Aβ1-40 concentration and 18F-FDG PET Z score were estimated for different brain regions.
RESULTS: Forty-seven cognitive impairment patients (AD = 29, mild cognitive impairment = 18) and 33 age-matched controls were enrolled. Plasma Aβ1-42 level was significantly higher in the AD group compared to controls (P = 0.046) and a cut-off >5.7 ng/mL has a specificity of 96.9%, sensitivity of 27.6%, positive predictive value 88.9%, and negative predictive value 60.4% for differentiating AD patients from controls. Significant correlation was seen between Aβ1-40/Aβ1-42 ratio and 18F-FDG PET Z score in the bilateral-parietal, temporal, frontal-association area, and posterior-cingulate areas.
CONCLUSIONS: As a diagnostic biomarker of AD, plasma Aβ1-42 level showed good specificity but low sensitivity in the Indian population.

Small cell carcinoma of hypercalcemic type (SCCOHT) is a rare gynaecological neoplasm, originating mostly in the ovaries. Cervical origin of this very aggressive malignancy with unknown histogenesis is an extremely rare condition, without published management recommendations. Alterations in SMARCA4 gene are supposed to play the major role in SCCOHT oncogenesis and their identification is crucial for the diagnosis. Adequate genetic counselling of the patients and their families seems to be of great importance. Optimal management and treatment approaches are not known yet but may extremely influence the prognosis of young female patients that suffer from this very resistant disease. Nowadays, a translational research seems to be the key for the further diagnostic and treatment strategies of SCCOHT. The purpose of the case report is to provide practical information and useful recommendations on the diagnosis, management, and treatment of SMARCA4-deficient carcinoma of the uterine cervix resembling SCCOHT.