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1.
Int J Mol Sci ; 25(8)2024 Apr 13.
Article in English | MEDLINE | ID: mdl-38673907

ABSTRACT

Neurodegenerative disorders (NDs) represent a group of different diseases characterized by the progressive degeneration and death of the nervous system's cells. The diagnosis is challenging, especially in the early stages, due to no specific clinical signs and symptoms. In this context, laboratory medicine could support clinicians in detecting and differentiating NDs. Indeed, biomarkers could indicate the pathological mechanisms underpinning NDs. The ideal biofluid for detecting the biomarkers of NDs is cerebrospinal fluid (CSF), which has limitations, hampering its widespread use in clinical practice. However, intensive efforts are underway to introduce high-sensitivity analytical methods to detect ND biomarkers in alternative nonivasive biofluid, such as blood or saliva. This study presents an overview of the ND molecular biomarkers currently used in clinical practice. For some diseases, such as Alzheimer's disease or multiple sclerosis, biomarkers are well established and recommended by guidelines. However, for most NDs, intensive research is ongoing to identify reliable and specific biomarkers, and no consensus has yet been achieved.


Subject(s)
Biomarkers , Neurodegenerative Diseases , Humans , Biomarkers/cerebrospinal fluid , Neurodegenerative Diseases/diagnosis , Neurodegenerative Diseases/cerebrospinal fluid , Neurodegenerative Diseases/metabolism , Alzheimer Disease/diagnosis , Alzheimer Disease/cerebrospinal fluid , Alzheimer Disease/metabolism , Alzheimer Disease/genetics
2.
Transl Med UniSa ; 26(1): 15-29, 2024.
Article in English | MEDLINE | ID: mdl-38560614

ABSTRACT

Gender medicine is a multidisciplinary science and represents an important perspective for pathophysiological and clinical studies in the third millennium. Here, it is provided an overview of the topics discussed in a recent course on the Role of Sex and Gender in Ageing and Longevity. The paper highlights three themes discussed in the course, i.e., the interaction of gender/sex with, i) the pathophysiology of age-related diseases; ii), the role of genetics and epigenetics in ageing and longevity and, iii) the immune responses of older people to pathogens, vaccines, autoantigens, and allergens. Although largely unexplored, it is clear that sex and gender are modulators of disease biology and treatment outcomes. It is becoming evident that men and women should no longer be considered as subgroups, but as biologically distinct groups of patients deserving consideration for specific therapeutic approaches.

3.
Clin Chem Lab Med ; 2024 Apr 22.
Article in English | MEDLINE | ID: mdl-38639193

ABSTRACT

OBJECTIVES: Non-celiac wheat sensitivity (NCWS) is an emerging clinical condition characterized by gastrointestinal and extraintestinal symptoms following the ingestion of gluten-containing foods in patients without celiac disease (CD) or wheat allergy. Despite the great interest for NCWS, the genetic risk factors still need to be fully clarified. In this study, we first assessed the possible contribution of KIR genes and KIR haplotypes on the genetic predisposition to NCWS. METHODS: Fifty patients with NCWS, 50 patients with CD, and 50 healthy controls (HC) were included in this study. KIR genes and KIR genotyping were investigated in all subjects by polymerase chain reaction with the sequence oligonucleotide probe (PCR-SSOP) method using Luminex technology. RESULTS: We found a statistically different distribution of some KIR genes among NCWS, CD, and HC. Specifically, NCWS showed a decreased frequency of KIR2DL1, -2DL3, -2DL5, -2DS2, -2DS3, -2DS4, -2DS5, and -3DS1 genes, and an increased frequency of -3DL1 gene respect to both CD and HC. No difference was detected in the KIR haplotype expression. At the multivariate analysis, KIR2DL5, -2DS4, and -2DS5 were independent predictors of NCWS. CONCLUSIONS: Our findings suggest a role of KIR genes in NCWS susceptibility, with KIR2DL5, -2DS4, and -2DS5 having a protective effect. Further large-scale multicentric studies are required to validate these preliminary findings.

4.
Cancers (Basel) ; 15(15)2023 Aug 01.
Article in English | MEDLINE | ID: mdl-37568728

ABSTRACT

P-element-induced wimpy testis (PIWI)-interacting RNAs (piRNAs) are a new class of small noncoding RNAs (ncRNAs) that bind components of the PIWI protein family. piRNAs are specifically expressed in different human tissues and regulate important signaling pathways. Aberrant expressions of piRNAs and PIWI proteins have been associated with tumorigenesis and cancer progression. Recent studies reported that piRNAs are contained in extracellular vesicles (EVs), nanosized lipid particles, with key roles in cell-cell communication. EVs contain several bioactive molecules, such as proteins, lipids, and nucleic acids, including emerging ncRNAs. EVs are one of the components of liquid biopsy (LB) a non-invasive method for detecting specific molecular biomarkers in liquid samples. LB could become a crucial tool for cancer diagnosis with piRNAs as biomarkers in a precision oncology approach. This review summarizes the current findings on the roles of piRNAs in different cancer types, focusing on potential theranostic applications of piRNAs contained in EVs (EV-piRNAs). Their roles as non-invasive diagnostic and prognostic biomarkers and as new therapeutic options have been also discussed.

5.
APMIS ; 119(10): 701-9, 2011 Oct.
Article in English | MEDLINE | ID: mdl-21917007

ABSTRACT

Surveillance of human papillomavirus (HPV) prevalence and genotype distribution in migrant women from middle and low-income countries to developed countries is limited. The aim of this study was to analyze the spectrum of HPV genotypes and prevalence of cervical abnormalities in women emigrated mainly from Eastern Europe and West Africa and living in Southern Italy. The study included 233 migrant and 98 Italian-born women who self-referred to two gynecological outpatient clinics in the Campania region. Cervical specimens were subjected to cytological examination and viral testing by broad spectrum PCR. The prevalence rates of HPV infection were 57.9% and 94.1% among migrant and 19.4% and 88.5% among Italian women with normal and abnormal cytology respectively. HPV infection was detected in 56.1% of Southern and Eastern European, 62.5% of Central and South American, 55.5% of West African, and 73.3% of Southern Asian women with normal cervix. Among the 140 HPV-positive migrants, a total of 28 mucosal HPV genotypes were identified of which 11 types (HPV16, 18, 31, 33, 35, 39, 45, 51, 52, 56, and 58), epidemiological classified as carcinogenic to humans (group 1), accounted for 73.4% of all infections. As expected, HPV16 was the most common viral type in all groups with frequency rates ranging from 12.5% in African to 30.1% in Eastern and Southern European women. In conclusion, the estimated prevalence of HPV infection among migrant women is very high, probably reflecting either lifestyle or high incidence of HPV in their country of origin. The implementation of vaccination strategies and cervical cancer surveillance are critical for women in this risk group.


Subject(s)
Papillomaviridae/isolation & purification , Papillomavirus Infections/epidemiology , Adult , Africa/ethnology , Aged , Cervix Uteri/cytology , Cervix Uteri/virology , Chi-Square Distribution , DNA, Viral/chemistry , DNA, Viral/genetics , Europe, Eastern/ethnology , Female , Humans , Italy/epidemiology , Middle Aged , Papillomaviridae/genetics , Papillomavirus Infections/diagnosis , Papillomavirus Infections/virology , Polymerase Chain Reaction , Prevalence , Uterine Cervical Diseases/diagnosis , Uterine Cervical Diseases/epidemiology , Uterine Cervical Diseases/virology , Vaginal Smears , Young Adult
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