1,721,110 research outputs found
Vitamin D in hypoparathyroidism. insight into pathophysiology and perspectives in clinical practice
No full textHypoparathyroidism (HypoPT) is a rare endocrine disorder characterized by the absence or insufficient parathyroid hormone production resulting in chronic hypocalcemia. Complications of HypoPT include perturbation of several target organs. The conventional treatment consists of the administration of active vitamin D, namely calcitriol. Regarding vitamin D status, few data are available, mostly in HypoPT subjects supplemented with parent vitamin D. In addition, perturbation of vitamin D metabolism has been poorly investigated, as well as the contribution of altered vitamin D status on the clinical expression of the disease. The most recent consensus on the management of chronic HypoPT suggests the baseline evaluation of serum 25-hydroxy-vitamin D [25(OH)D] and supplementation with parent vitamin D with the aim to achieve and maintain serum 25(OH)D levels in the range of 30-50 ng/mL. The rationale for using supplementation with parent vitamin D (either ergocalciferol or cholecalciferol) in HypoPT would be to provide sufficient 25(OH)D substrate to the residual 1-alpha-hydroxylase activity, thus ensuring its conversion to active vitamin D in renal and extra-renal tissues. More data from experimental and clinical studies are needed for better assessing how these mechanisms may significantly influence metabolic control in HypoPT and eventually skeletal and extra-skeletal manifestation of the disease. Finally, future data will clarify how the currently available parent vitamin D compounds (ergocalciferol, cholecalciferol, calcifediol) would perform in addressing these specific issues
Quality of life in primary hyperparathyroidism
No full text: Quality of life is impaired in primary hyperparathyroidism (PHPT), regardless of the severity of the disease. Clinical studies have employed different instruments, including standardized and disease-specific questionnaires, and including patients with different phenotypes of PHPT. Neuropsychiatric symptoms and decline in cognitive status are common in PHPT. Patients may complain of these issues or they can be ascertained by questionnaires; they include depression, anxiety, impaired vitality, social and emotional functions, sleep disturbances, and altered mental function. Randomized controlled trials on the effects of surgical versus non-surgical treatments have collectively shown improvement in quality of life after parathyroidectomy, but results have been heterogeneous
Long-term effects of COVID-19 pandemic on physical activity and eating behaviour of the Italian population: a longitudinal study
No full textBackground: Restrictive measures due to the Covid-19 pandemic strongly impacted lifestyle and daily behaviour. The purpose of this longitudinal retrospective study was to investigate short-term and long-term effects of Covid-19 pandemic on physical activity and eating habits of the Italian population investigating three time periods: pre-, during- and post-lockdown. Methods: A sample of 2773 adults recruited through social media provided data by an online survey administered from July to October 2023. Participants completed the International Physical Activity Questionnaire-Short Form (IPAQ-SF), the Mediterranean Diet Adherence Screener (MEDAS) and provided information about eating habits, socio-demographic and anthropometric characteristics. Results: There was a significant increase (p < 0.001) in mean BMI from pre-pandemic period (24.53 ± 5.34 Kg/m2) to post-pandemic period (25.22 ± 6.0 Kg/m2). Physical Activity significantly decreased during the pandemic period compared to the pre-pandemic period (χ2 = 271.97; p < 0.001; φ = 0.31) with an increase in inactive subjects from 25.7% to 52.8%. In the post pandemic period, there was an increase in the level of Physical Activity compared to the pandemic period (χ2 = 413.61; p < 0.001; φ = 0.39) with a reduction of inactive subjects from 52.8% to 25.6%. Adherence to Mediterranean Diet score significantly (p < 0.001) increase from pre-pandemic (7.18 ± 1.58) to during-pandemic (7.29 ± 1.69) and post-pandemic (7.75 ± 1.63) periods with significant differences emerged in the consumption of single MEDAS items during the pandemic period by different BMI classes. Consumption of seasonal fruit and vegetables, water intake, the preparation/consumption of traditional or local dishes and the time dedicated for dinner and lunch significant increase (p < 0.001) during pandemic. Conclusions: The Covid-19 pandemic changed people's lifestyles, but in different ways for Physical Activity and diet. During the pandemic there was a negative effect for PA that decreased while the time spent sitting increased. This seems to be a temporary effect as, after the end of the phase of mandatory restrictions, it returns to the original level. The lockdown period improved the quality of the Italian population's eating habits, with an increase in adherence to the Mediterranean diet even after the end of the pandemic showing a rediscovery of traditional dishes, increase in consumption of seasonal products, greater preference for local products and more time spent preparing meals
CaSR protein expression analysis in stem cells derived from human skeletal muscle and human adipose tissue
No full textCaSR protein expression in skeletal muscle and adipose tissue-derivedd stem cell
A new mutation of the MEN1 gene in an italian kindred with multiple endocrine neoplasia type 1
No full textAbstract
OBJECTIVE: To report a new mutation of the multiple endocrine neoplasia type 1 (MEN1) gene in an Italian kindred.
DESIGN: The study included the female proband, aged 50 years, affected by primary hyperparathyroidism, insulinoma and prolactinoma, and ten relatives. Blood samples were obtained for biochemical and genetic analyses. Clinical screening tests included serum glucose, ionized calcium, intact parathyroid hormone, GH, insulin and prolactin. The coding sequence, including nine coding exons and 16 splice sites, was amplified by PCR and directly sequenced.
RESULTS: Two additional cases of primary hyperparathyroidism were identified among the paternal family members. The sequence analysis showed a heterozygous T to C transition at codon 444 in exon 9, resulting in a leucine to proline substitution (L444P) in the patient and in the two paternal family members with primary hyperparathyroidism. The L444P amino acid change was absent in 50 normal subjects. The mutation determined the loss of a BlnI restriction site of the wild-type sequence and the creation of a new restriction EcoRII site. The patient, but not her paternal affected relatives, also had a common heterozygous polymorphism (D418D) in exon 9.
CONCLUSIONS: A new MEN1 mutation (L444P) in exon 9 has been identified; this substitution caused the loss of a BlnI restriction site and the creation of a new EcoRII site
Normocalcemic primary hyperparathyroidism: a survey in a small village of Southern Italy
Full text linkWe investigated the prevalence of normocalcemic primary hyperparathyroidism (NPHPT) in the adult population living in a village in Southern Italy. All residents in 2010 (n=2045) were invited by calls and 1046 individuals accepted to participate. Medical history, calcium intake, calcium, albumin, creatinine, parathyroid hormone (PTH) and 25OHD were evaluated. NPHPT was defined by normal albumin-adjusted serum calcium, elevated plasma PTH, and exclusion of common causes of secondary hyperparathyroidism (SHPT) (serum 25OHD <30 ng/ml, estimated glomerular filtration rate (eGFR) <60 ml/min per 1.73 m(2) and thiazide diuretics use), overt gastrointestinal and metabolic bone diseases. Complete data were available for 685 of 1046 subjects. Twenty subjects did not meet the inclusion criteria and 341 could not be evaluated because of thawing of plasma samples. Classical PHPT was diagnosed in four women (0.58%). For diagnosing NPHPT the upper normal limit of PTH was established in the sample of the population (n=100) who had 25OHD ≥30 ng/ml and eGFR ≥60 ml/min per 1.73 m(2) and was set at the mean+3s.d. Three males (0.44%) met the diagnostic criteria of NPHPT. These subjects were younger and with lower BMI than those with classical PHPT. Our data suggest, in line with previous studies, that NPHPT might be a distinct clinical entity, being either an early phenotype of asymptomatic PHPT or a distinct variant of it. However, we cannot exclude that NPHPT might also represent an early phase of non-classical SHPT, since other variables, in addition to those currently taken into account for the diagnosis of NPHPT, might cumulate in a normocalcemic subject to increase PTH secretion
The Epidemiology of Hypoparathyroidism in Italy: An 8-Year Register-Based Study
Full text linkHypoparathyroidism is a rare endocrine disorder,
but few studies have focused on the epidemiology and
hospital management of the disease and none has been
performed in Italy. We investigated the prevalence of dif-
ferent forms of hypoparathyroidism among hospitalized
patients in Italy during an 8-year period. This study is
designed as a retrospective register-based study. We
retrieved data from the ‘‘Record of Hospital Discharge’’
(SDO) of the Italian Health Ministry, from the year 2006 to
2013
and
analyzed
the
codes
corresponding
to
hypoparathyroidism-related
diagnoses.
The
inpatient
prevalence of the disease was also calculated after
excluding repeated hospitalizations. Overall, 27,692 hos-
pitalization episodes for hypoparathyroidism were identi-
fied during the entire period (72.2% in women and 27.8%
in men; mean age 49.5
±
22.9 years). The mean length of
stay was 7.4
±
9.8 days (25.9% of the episodes requiring
less than 3 days of stay). The mean hospitalization rate for
hypoparathyroidism was 5.9/100,000 inhabitants per year
and there was a significant decrease during the period of
2006–2013 (
p
\
0.0001). The mean hospitalization rate for
postsurgical hypoparathyroidism was 1.4/100,000 inhabi-
tants per year and the trend showed a significant reduction during the years (
p
\
0.0001). The mean prevalence of
hypoparathyroidism among inpatients was 5.3/100,000
inhabitants per year, and there was a significant decrease
over the years (
p
\
0.0001). Hypoparathyroidism, partic-
ularly the postsurgical form of the disease, is not an
uncommon condition among hospitalized patients in Italy.
We observed a tendency to a decrease in the frequency of
hospitalization during the period 2006–201
Cellule satelliti isolate da muscolo scheletrico umano come modello per lo studio della differenziazione muscolare
No full textIntroduzione e Scopo
Nel muscolo scheletrico risiede una piccola popolazione di cellule mononucleate staminali, chiamate cellule satelliti (CS), che rappresentano circa il 2-10% delle cellule muscolari totali. Tali cellule sono localizzate in una nicchia situata tra il sarcolemma della miofibra e la lamina basale, e sono di fondamentale importanza per la crescita e la rigenerazione del muscolo scheletrico. Nel muscolo adulto sano, le CS sono quiescenti e si attivano durante la rigenerazione muscolare, per differenziarsi e auto-rigenerarsi.
Scopo del lavoro è stato quello di isolare le CS dal muscolo scheletrico umano e testare la loro capacità a formare miofibre, al fine di sviluppare un modello utile per gli studi di differenziazione muscolare e nello screening di nuove molecole terapeutiche da impiegare nel trattamento delle malattie muscolari.
Materiali e Metodi
Le CS sono state isolate dal muscolo scheletrico umano dopo frantumazione e digestione enzimatica con collagenasi di tipo I a 37°C per 3 ore. Le cellule primarie sono state coltivate in terreno di crescita (PromoCell cod.C-39360) e differenziate per 14 giorni con terreno di induzione (PromoCell cod.C-39366) per valutare, in RealTime-qPCR e immunocitochimica, i principali marker implicati nella miodifferenziazione.
Risultati
Le CS isolate esprimono PAX-7, il principale marker cellulare. Dopo 4g di induzione sono state osservate cellule multinucleate allungate, riconducibili a miotubuli. Dopo 10g è stato verificato un incremento significativo dell’espressione genica dei marker del differenziamento (*p<0.005) ed è stata confermata la presenza della proteina Myosin Heavy Chain, indice dell’effettiva maturazione della miofibra.
Conclusioni
Tali risultati hanno evidenziato che le CS isolate dal tessuto muscolare rappresentano un buon modello per studiare i meccanismi di differenziazione muscolare e per promuovere lo studio di nuovi approcci terapeutici nel trattamento delle patologie muscolo-degenerative
MEN1 gene alterations do not correlated with the pèhenotype of sporadic primary hyperparathyroidism
No full textAbstract: Loss of heterozygosity (LOH) in the MEN1 region on chromosome 11q13 and MEN1 gene mutations have been found in a subset of sporadic parathyroid tumors. The question of whether these genetic abnormalities in the parathyroid tumors might influence the clinical and biochemical characteristics of primary hyperparathyroidism (PHPT) remains to be elucidated. The aim of the present study was to correlate the presence of MEN1 gene alterations in PHPT tumors with the clinical phenotype. Using microsatellite analysis for LOH at 11q13 and DNA sequencing of the coding exons, the MEN1 gene was studied in 38 parathyroid tumors of patients with sporadic PHIPT. Fourteen tumors showed LOH at 11q13, and mutations of MEN1 gene were detected in 7 cases. The clinical and biochemical characteristics of patients were unrelated to the presence or absence of LOH and/or MEN1 gene mutations. In conclusion, MEN1 gene alterations are rather common in sporadic PHPT and their presence does not correlate with the clinical manifestations of the disease. (C) 2002, Editrice Kurtis
Gene expression analysis during in vitro myogenesis of human skeletal muscle satellite cells
No full textGene expression analysis during in vitro myogenesis of human skeletal muscle satellite cell
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