Search

Purpose “Non thyroidal illness syndrome” (NTIS) or “euthyroid sick syndrome” (ESS) is a possible biochemical finding in euthyroid patients with severe diseases. It is characterized by a reduction of serum T3 (fT3), sometimes followed by reduction of serum T4 (fT4). The relationship between thyroid hormones levels and mortality is well known and different studies showed a direct association between NTIS and mortality. The sudden spread of the 2019 novel coronavirus (SARS-CoV 2) infection (COVID-19) and its high mortality become a world healthcare problem. Our aim in this paper was to investigate if patients affected by COVID-19 presented NTIS and the relationship between thyroid function and severity of this infection. Methods We evaluated the thyroid function in two different groups of consecutive patients affected by COVID-19 with respect to a control group of euthyroid patients. Group A included patients hospitalized for COVID-19 pneumonia while patients requiring intensive care unit (ICU) for acute respiratory syndrome formed the group B. Group C identified the control group of euthyroid patients. Results Patients from group A and group B showed a statistically significant reduction in fT3 and TSH compared to group C. In group B, compared to group A, a further statistically significant reduction of fT3 and TSH was found. Conclusions COVID-19 in-patients can present NTIS. FT3 and TSH serum levels are lower in patients with more severe symptoms.

La sindrome da carcinoide, la cui incidenza e in aumento, rappresenta e la piu frequente sindrome correlata ai tumori neuroendocrini (NET). L’eziopatogenesi non e ancora chiaramente definita, anche se e ormai chiaro assodato il ruolo patogenetico della serotonina. Il quadro clinico e dominato da diarrea e flushing, che possono assumere diverse caratteristiche a seconda della sede del tumore (midgut o foregut). La piu grave associazione e la cardiopatia da carcinoide, spesso asintomatica ma che necessita di screening e follow-up per prevenirne le gravi conseguenze. La diagnosi biochimica si basa sulla misura dell’acido 5-idrossi-indolacetico (5-HIAA) nelle urine delle 24 ore e, quando e dove disponibile, anche sulla sua concentrazione ematica. La terapia medica classica si basa sugli analoghi della somatostatina, ma stanno tuttavia emergendo nuove possibilita di trattamento (inibitori della sintesi della serotonina e terapia radiorecettoriale). Necessaria un’adeguata prevenzione delle crisi da carcinoide che possono essere associate a interventi chirurgici e anestesia. Diagnosi tempestiva e appropriata e follow-up integrato sono garanzie per una gestione ottimale della condizione morbosa.

Objectives: To investigate the association between sex hormones and the severity of coronavirus disease 2019 (COVID-19). Furthermore, associations between sex hormones and systemic inflammation markers, viral shedding and length of hospital stay were studied. Design and methods: This case–control study included a total of 48 male patients with COVID-19 admitted to an Italian reference hospital. The 24 cases were patients with PaO2/FiO2 300 mmHg at all times and who may have required low-flow oxygen supplementation during hospitalization (mild COVID-19). For each group, sex hormones were evaluated on hospital admission. Results: Patients with severe COVID-19 (cases) had a significantly lower testosterone level compared with patients with mild COVID-19 (controls). Median total testosterone (TT) was 1.4 ng/mL in cases and 3.5 ng/mL in controls (P = 0.005); median bioavailable testosterone (BioT) was 0.49 and 1.21 in cases and controls, respectively (P = 0.008); and median calculated free testosterone (cFT) was 0.029 ng/mL and 0.058 ng/mL in cases and controls, respectively (P = 0.015). Low TT, low cFT and low BioT were correlated with hyperinflammatory syndrome (P = 0.018, P = 0.048 and P = 0.020, respectively) and associated with longer length of hospital stay (P = 0.052, P = 0.041 and P = 0.023, respectively). No association was found between sex hormone level and duration of viral shedding, or between sex hormone level and mortality rate. Conclusions: A low level of testosterone was found to be a marker of clinical severity of COVID-19.

Biallelic pathogenic variants in POC1A result in SOFT (Short-stature, Onychodysplasia, Facial-dysmorphism, and hypoTrichosis) and variant POC1A-related (vPOC1A) syndromes. The latter, nowadays described in only two unrelated subjects, is associated with a restricted spectrum of variants falling in exon 10, which is naturally skipped in a specific POC1A mRNA. The synthesis of an amount of a POC1A isoform from this transcript in individuals with vPOC1A syndrome has been believed as the likely explanation for such a genotype-phenotype correlation. Here, we illustrate the clinical and molecular findings in a woman who resulted to be compound heterozygous for a recurrent frameshift variant in exon 10 and a novel variant in exon 9 of POC1A. Phenotypic characteristics of this woman included severe hyperinsulinemic dyslipidemia, acanthosis nigricans, moderate growth restriction, and dysmorphisms. These manifestations overlap the clinical features of the two previously published individuals with vPOC1A syndrome. RT-PCR analysis on peripheral blood and subsequent sequencing of the obtained amplicons demonstrated a variety of POC1A alternative transcripts that resulted to be expressed in the proband, in the healthy mother, and in controls. We illustrate the possible consequences of the two POC1A identified variants in an attempt to explain pleiotropy in vPOC1A syndrome.

La strategia terapeutica dei tumori neuroendocrini (NET) comprende la chirurgia per le forme localizzate e le terapie sistemiche per quelle metastatiche o inoperabili. La peculiarita biologica dei NET vede utilizzati in prima linea gli analoghi della somatostatina, anche ad alto dosaggio o in combinazione con gli altri farmaci, gli inibitori delle tirosinochinasi e di mTOR e la terapia radiorecettoriale. Chemioterapia e immunoterapia sono riservate ai NET piu aggressivi. Nuovi studi clinici valuteranno, insieme a efficacia e sicurezza, le migliori sequenze terapeutiche.

La versione originale di questo articolo purtroppo conteneva un errore. I nomi di due farmaci sono stati erroneamente inseriti nella tabella al momento della pubblicazione iniziale. La tabella corretta e riportata di seguito e la tabella dell’articolo originale e stata aggiornata. L’editore desidera scusarsi per questo errore. QUADRO SINOTTICO DEI FARMACI CITATI Principio attivo Nomi commerciali Dosaggi Octreotide Sandostatina fl 50 mcg/ml, 100 mcg/ml, 500 mcg/ml; sc, ev Octreotide LAR Sandostatina LAR 1 fl 10 mg, 20 mg, 30 mg; im (ogni 28 giorni) Lanreotide Ipstyl 1 fl 60 mg, 90 mg, 120 mg; im (ogni 14, 21, 28 giorni) Telotristat Xermelo cp 250 mg; os Pasireotide Signifor fl 0,3 mg, 0,6 mg, 0,9 mg; sc Everolimus Afinitor cp 2,5 mg, 5 mg, 10 mg: os 177Lu-DOTATATE Lutathera fl 370 MBq/mL; ev 131I-MIBG Iobenguano 131 I fl 185 MBq/ml, 246,7 MBq/ml, 493,3 MBq/ml; ev

In the last few years, molecular targeted therapies have replaced traditional cytotoxic chemotherapy in the fight against many cancers to the extent that our understanding of tumor biology has become more sophisticated. This shift has markedly changed adverse event profiles, compared to cytotoxic chemotherapy, affecting a diverse range of organ systems. Everolimus was approved by the FDA in 2011 for the treatment of progressive pancreatic NE tumors. It is an inhibitor of mammalian target of rapamycin (mTOR) and exhibits antitumor activity via disruption of various signaling pathways and it's used in the treatment of advanced renal cell cancer, breast cancer and neuroendocrine tumors (NET); it’s used also as anti-rejection agent for transplantation but with lower doses for anti-rejection (1.5–3.0 mg/day) than for anti-cancer (5–10 mg/day) treatment. Metabolic side effects are the most frequent reported and will be discussed in this review.

Background : A growing body of evidence suggests that styles of adaptation, assessed with the Serial Color-Word Test (S-CWT, a 5-trials Stroop task), are able to differentiate several mental and psychosomatic disorders. Recent findings have confirmed a very high rate of cases of autoimmune thyroiditis (so called Hashimoto disease) among bipolar patients, suggesting an etio-pathogenetic relatedness between the two ailments. Based on the latter relatedness, it was hypothesized that the same styles of adaptation, which are known to differentiate bipolar and control subjects are also characteristic of patients with autoimmune thyroiditis. Methods : Three groups (autoimmune thyroiditis, fully remitted bipolar I, and nonclinical) of 40 women, matched on age and schooling, were administered the S-CWT. The following variables were considered: (a) early discontinuity (i.e. the summed nonlinear change of the first three trials), (b) late discontinuity (i.e. the summed nonlinear change of the last two trials), (c) across-trials discontinuity (i.e. the nonlinear change of the five measures of nonlinear change). Results : The thyroiditis group had (1) higher values of early discontinuity ( P =0.006) and of late discontinuity ( P =0.004) compared with nonclinical controls, (2) lower values of early discontinuity ( P =0.005) and of across-trials discontinuity ( P =0.008) compared with the bipolar group. Limitations : The study did not include men patients and lacked a quantification of affective symptoms among clinical and nonclinical participants. Conclusion : A discontinuous style of adaptation is more marked among remitted bipolar than among thyroiditis patients, and more marked among the latter ones than among nonclinical controls, thus delineating a sort of adaptive continuum.