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Introduction The chemokine prokineticin-2 (PROK2) is a small peptide belonging to the prokinetidn family. The preokineticins (PROK1 and PROK2) and their receptors (PKR1 and PKR2) are widely distributed in the [...], The prokineticin-2 (PROK2) is a small peptide belonging to the prokineticin family. In humans and rodents this chemokine is primarily involved in the control of central and peripheral reproductive processes. Klinefelter's syndrome (KS) is the first cause of male genetic infertility, due to an extra X chromosome, which may occur with a classical karyotype (47, XXY) or mosaic forms (46, XY/47, XXY). In affected subjects, pubertal maturation usually begins at an adequate chronological age, but when development is almost complete, they display a primary gonadal failure, with early spermatogenesis damage, and later onset of testosterone insufficiency. Thus, the main aim of the present study was to investigate the serum levels of PROK2 in prepubertal and adult KS patients, comparing them with healthy subjects. We showed for the first time the presence of PROK2 in the children serum but with significant changes in KS individuals. Indeed, compared with healthy subjects characterized by PROK2 serum elevation during the growth, KS individuals showed constant serum levels during the sexual maturation phase (higher during the prepubertal phase but lower during the adult age). In conclusion, these data indicate that in KS individuals PROK2 may be considered a biomarker for investigating the SK infertility process. Key words: Klinefelter syndrome, prepubertal, adults, prokineticin-2, infertility. La procineticine 2 (PROK2) est un petit peptide faisant partie de la famille des procineticines. Chez l'humain et les rongeurs, cette chimiokine joue principalement un role dans le controle central et peripherique des processus de la reproduction. Le syndrome de Klinefelter (SK) constitue la principale cause d'infertilite masculine de nature genetique en raison d'un chromosome X supplementaire, ce qui peut survenir avec un caryotype classique (47, XXY) ou des formes mosarques (46, XY/47, XXY). Chez les sujets atteints, le passage a la puberte commence habituellement a un age chronologique adequat, mais lorsque le developpement est presque termine, ils presentent une insuffisance gonadique primitive, avec des dommages de la spermatogenese precoces et une insuffisance de testosterone d'apparition plus tardive. Par consequent, la presente etude portait avant tout sur la comparaison des taux seriques de PROK2 entre des patients atteints de SK en prepuberte ou a l'age adulte et des sujets en bonne sante. Nous avons montre pour la premiere fois la presence de PROK2 dans le serum des enfants, mais avec des modifications importantes chez les personnes atteintes du SK. De fait, comparativement aux sujets en bonne sante caracterises par une hausse des taux seriques de PROK2 au cours de la croissance, les personnes atteintes du SK presentaient une augmentation des taux seriques de maniere constante au cours de la phase de maturation sexuelle (plus elevee au cours de la phase prepubere, mais moins elevee a l'age adulte). En conclusion, ces donnees montrent que l chez les personnes atteintes de SK, es taux de PROK2 pourraient etre consideres comme etant des biomarqueurs permettant d'etudier le processus d'infertilite dans le SK. [Traduit par la Redaction] Mots-cles: syndrome de Klinefelter, prepuberte, adultes, procineticine 2, infertilite.

Transthyretin-mediated amyloidosis (ATTR) is a systemic disease with protein precipitation in many tissues, mainly the peripheral nerve and heart. Both genetic (ATTRv, "v" for variant) and wild-type (ATTRwt) forms are known. Beyond the steric encumbrance, precipitated transthyretin seems to have a toxic effect. In this study carried out in men, we recruited 15 ATTRv patients, 7 ATTRv asymptomatic carriers, 14 ATTRwt patients and 10 young and 13 old healthy controls to evaluate the oxidative stress using FORD (Free Oxygen Radicals Defense) and FORT (Free Oxygen Radicals Test) analyses. ATTRv patients showed reduced FORD compared to ATTRwt and ATTRv asymptomatic carriers. FORD independently predicted the disease stage, with the early stages characterized by the highest consumption. These findings suggest a role for oxidative stress in the early stages of ATTRv. [ABSTRACT FROM AUTHOR]

The inherited motor neuron disease spinal muscular atrophy (SMA) is caused by mutation of the telomeric survival motor neuron 1 (SMN1) gene with retention of the centromeric SMN2 gene. We [...]

Laryngeal cancer accounts for one-third of all head and neck tumors, with squamous cell carcinoma (SCC) being the most predominant type, followed by neuroendocrine tumors. Chromogranins, are commonly used as biomarkers for neuroendocrine tumors, including laryngeal cancer. It has been reported that secretogranin VGF, a member of the chromogranin family, can be also used as a significant biomarker for neuroendocrine tumors. However, the expression and role of VGF in laryngeal carcinomas have not been previously investigated. Therefore, the present study aimed to determine the expression levels of VGF in laryngeal SCC (LSCC). The present study collected tumor tissues, as well as serum samples, from a cohort of 15 patients with LSCC. The results of reverse transcription-quantitative PCR, western blot analysis and immunofluorescence assays showed that the selective VGF precursor was downregulated in patients with LSCC. Notably, in tumor tissue, the immunoreactivity for VGF was found in vimentin-positive cells, probably corresponding to T lymphocytes. The current preliminary study suggested that the reduced expression levels of VGF observed in tumor tissue and at the systemic level could sustain LSCC phenotype. Overall, VGF could be a potential biomarker for detecting neoplastic lesions with a higher risk of tumor invasiveness, even in non-neuroendocrine tumors. [ABSTRACT FROM AUTHOR]

Disconnection between membrane signalling and actin networks can have catastrophic effects depending on cell size and polarity. The survival motor neuron (SMN) protein is ubiquitously involved in assembly of spliceosomal small nuclear ribonucleoprotein particles. Other SMN functions could, however, affect cellular activities driving asymmetrical cell surface expansions. Genes able to mitigate SMN deficiency operate within pathways in which SMN can act, such as mRNA translation, actin network and endocytosis. Here, we found that SMN accumulates at membrane protrusions during the dynamic rearrangement of the actin filaments. In addition to localization data, we show that SMN interacts with caveolin-1, which mediates anchoring of translation machinery components. Importantly, SMN deficiency depletes the plasma membrane of ribosomes, and this correlates with the failure of fibroblasts to extend membrane protrusions. These findings strongly support a relationship between SMN and membrane dynamics. We propose that SMN could assembly translational platforms associated with and governed by the plasma membrane. This activity could be crucial in cells that have an exacerbated interdependence of membrane remodelling and local protein synthesis. [ABSTRACT FROM AUTHOR]

Background and Objectives: This retrospective study aims to disclose further early parameters of COVID-19 morbidity and mortality., Methods: Three hundred and eighty-two COVID-19 patients, recruited between March and April 2020, were divided into three groups according to their outcome: (1) hospital ward group (patients who entered the hospital wards and survived); (2) intensive care unit (ICU) group (patients who attended the ICU and survived); (3) the deceased group (patients admitted to ICU with a fatal outcome). We investigated routine laboratory parameters such as albumin, glycemia, hemoglobin amylase, lipase, AST, ALT, GGT, LDH, CK, MGB, TnT-hs, IL-6, ferritin, CRP, PCT, WBC, RBC, PLT, PT, INR, APTT, FBG, and D-dimer. Blood withdrawal was carried out at the beginning of the hospitalization period., Results: ANOVA and ROC data evidenced that the concomitant presence of alterations in albumin, lipase, AST, ALT, LDH, MGB, CK, IL-6, ferritin in women, CRP and D-dimer is an early sign of fatal outcomes., Conclusion: The present study confirms and extends the validity of routine laboratory biomarkers (i.e., lipase, AST, ALT, LDH, CK, IL-6, ferritin in women, CRP and D-dimer) as indicators of COVID-19 morbidity and mortality. Furthermore, the investigation suggests that both gross changes in albumin and MGB, markers of liver and heart damage, may early disclose COVID-19 fatal outcomes., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)