Identification and Functional Studies of Two New Dual-Oxidase 2 (DUOX2) Mutations in a Child with Congenital Hypothyroidism and a Eutopic Normal-Size Thyroid Gland

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Variability in genes regulating vitamin D metabolism is associated with vitamin D levels in type 2 diabetes

Mortality rate is increased in type 2 diabetes (T2D). Low vitamin D levels are associated with increased mortality risk in T2D. In the general population, genetic variants affecting vitamin D metabolism (DHCR7 rs12785878, CYP2R1 rs10741657, GC rs4588) have been associated with serum vitamin D. We studied the association of these variants with serum vitamin D in 2163 patients with T2D from the "Sapienza University Mortality and Morbidity Event Rate (SUMMER) study in diabetes". Measurements of serum vitamin D were centralised. Genotypes were obtained by Eco™ Real-Time PCR. Data were adjusted for gender, age, BMI, HbA1c, T2D therapy and sampling season. DHCR7 rs12785878 (p = 1 x 10-4) and GC rs4588 (p = 1 x 10-6) but not CYP2R1 rs10741657 (p = 0.31) were significantly associated with vitamin D levels. One unit of a weighted genotype risk score (GRS) was strongly associated with vitamin D levels (p = 1.1 x 10-11) and insufficiency (<30 ng/ml) (OR, 95%CI = 1.28, 1.16-1.41, p = 1.1 x 10-7). In conclusion, DHCR7 rs12785878 and GC rs4588, but not CYP2R1 rs10741657, are significantly associated with vitamin D levels. When the 3 variants were considered together as GRS, a strong association with vitamin D levels and vitamin D insufficiency was observed, thus providing robust evidence that genes involved in vitamin D metabolism modulate serum vitamin D in T2D

A challenging surgical approach to locally advanced primary urethral carcinoma: A case report and literature review

Primary urethral carcinoma (PUC) is a rare and aggressive cancer, often underdetected and consequently unsatisfactorily treated. We report a case of advanced PUC, surgically treated with combined approaches. A 47-year-old man underwent transurethral resection of a urethral lesion with histological evidence of a poorly differentiated squamous cancer of the bulbomembranous urethra. Computed tomography (CT) and bone scans excluded metastatic spread of the disease but showed involvement of both corpora cavernosa (cT3N0M0). A radical surgical approach was advised, but the patient refused this and opted for chemotherapy. After 17 months the patient was referred to our department due to the evidence of a fistula in the scrotal area. CT scan showed bilateral metastatic disease in the inguinal, external iliac, and obturator lymph nodes as well as the involvement of both corpora cavernosa. Additionally, a fistula originating from the right corpus cavernosum extended to the scrotal skin. At this stage, the patient accepted the surgical treatment, consisting of different phases. Phase I: Radical extraperitoneal cystoprostatectomy with iliac-obturator lymph nodes dissection. Phase II: Creation of a urinary diversion through a Bricker ileal conduit. Phase III: Repositioning of the patient in lithotomic position for an overturned Y skin incision, total penectomy, fistula excision, and "en bloc" removal of surgical specimens including the bladder, through the perineal breach. Phase IV: Right inguinal lymphadenectomy. The procedure lasted 9-and-a-half hours, was complication-free, and intraoperative blood loss was 600 mL. The patient was discharged 8 days after surgery. Pathological examination documented a T4N2M0 tumor. The clinical situation was stable during the first 3 months postoperatively but then metastatic spread occurred, not responsive to adjuvant chemotherapy, which led to the patient's death 6 months after surgery. Patients with advanced stage tumors of the bulbomembranous urethra should be managed with radical surgery including the corporas up to the ischiatic tuberosity attachment, and membranous urethra in continuity with the prostate and bladder. Neo-adjuvant treatment may be advisable with the aim of improving the poor prognosis, even if the efficacy is not certain while it can delay the radical treatment of the disease

Annali storici di Principato Citra, A. 9, n. 1.1 (2011)

A.9, n.1.1(2011): G. Guardia, Editoriale, P. 3 ; A. Botti, D.L. Thurmond, F. La Greca, Un palmento ben conservato a Novi Velia ed altri palmenti nel territorio del Cilento. Osservazioni ed ipotesi, P. 5 ; G. Aromando, Una dipendenza cavense: Sant'Arsenio e la badia della SS. Trinità di Cava, P. 53 ; C. Schiavo, Avventure etimologiche in forma di prosa nelle terre del Cilento, P. 81 ; A. Capano, Caselle in Pittari: note storiche e il catasto murattiano del 1815, P. 104 ; A. Di Gennaro, Il porto romano di San Marco di Castellabate, P. 134 ; F. De Nigris, I comunisti in parrocchia: il Sessantotto cattolico in Italia, P. 147 ; S. De Divitiis, Il '68 dei cattolici: l'Azione cattolica a Salerno, P. 165 ; C. Schiavo, Santa Maria di Vito a Fogna, P. 176 ; P. Romanelli, La cappella dei SS. Pietro e Paolo nel palazzo vescovile di Novi Velia, P. 182 ; A. Tesauro, Vietri. Dalla guerra alla vigilia della Costituzione, P. 188

Changes in renal function after nephroureterectomy for upper urinary tract carcinoma: analysis of a large multicenter cohort (Radical Nephroureterectomy Outcomes (RaNeO) Research Consortium)

Purpose To investigate prevalence and predictors of renal function variation in a multicenter cohort treated with radical nephroureterectomy (RNU) for upper tract urothelial carcinoma (UTUC). Methods Patients from 17 tertiary centers were included. Renal function variation was evaluated at postoperative day (POD)-1, 6 and 12 months. Timepoints differences were Delta 1 = POD-1 eGFR - baseline eGFR; Delta 2 = 6 months eGFR - POD-1 eGFR; Delta 3 = 12 months eGFR - 6 months eGFR. We defined POD-1 acute kidney injury (AKI) as an increase in serum creatinine by >= 0.3 mg/dl or a 1.5 1.9-fold from baseline. Additionally, a cutoff of 60 ml/min in eGFR was considered to define renal function decline at 6 and 12 months. Logistic regression (LR) and linear mixed (LM) models were used to evaluate the association between clinical factors and eGFR decline and their interaction with follow-up. Results A total of 576 were included, of these 409(71.0%) and 403(70.0%) had an eGFR < 60 ml/min at 6 and 12 months, respectively, and 239(41.5%) developed POD-1 AKI. In multivariable LR analysis, age (Odds Ratio, OR 1.05, p < 0.001), male gender (OR 0.44, p = 0.003), POD-1 AKI (OR 2.88, p < 0.001) and preoperative eGFR < 60 ml/min (OR 7.58, p < 0.001) were predictors of renal function decline at 6 months. Age (OR 1.06, p < 0.001), coronary artery disease (OR 2.68, p = 0.007), POD-1 AKI (OR 1.83, p = 0.02), and preoperative eGFR < 60 ml/min (OR 7.80, p < 0.001) were predictors of renal function decline at 12 months. In LM models, age (p = 0.019), hydronephrosis (p < 0.001), POD-1 AKI (p < 0.001) and pT-stage (p = 0.001) influenced renal function variation (ss 9.2 +/- 0.7, p < 0.001) during follow-up. Conclusion Age, preoperative eGFR and POD-1 AKI are independent predictors of 6 and 12 months renal function decline after RNU for UTUC

Meiofaunal communities of Nisida and the environmental status of the Flegrean area

Nisida is a volcanic islet of the Flegrean Islands archipelago connected to the mainland by a stone bridge. It lies very close to Cape Posillipo, just north of Napoli. The islet has a circular shape, with a flooded crater forming the bay of Porto Paone. In the 1800s Nisida was the site of a Bourbon prison, then an Italian state penitentiary, and, now, a reformatory for juvenile offenders. Since then the access to the island has been limited and this results in a very preserved area, but in the 1900 Nisida was encroached upon by the unsightly steel industry in Bagnoli affecting the state of health of marine communities. Recently Meiofauna has acquired an important role as a indicator of the marine ecosystem. We performed a meiofauna survey in Porto Paone, sampling were made from June 2014 to December 2015 in 4 areas resulting by the division of the bay in 4 quadrants (North-South; West-East), in each area 4 samples to cover all kind of substrate present were collected. To have a comparable parameter of the anthropic effect on meiofauna communities we performed sampling also in the closest area of Bagnoli during the period from November to December 2015. The fauna extraction was performed according to Heip et al. (1985). In Porto Paone, throughout the whole study period we found a diversity resulting in the presence of 24 taxa. A seasonal fluctuation has been observed with a major diversity during fall with the presence of 20 taxa versus 14 taxa in summer. Comparing the same period (November/December 2015) of sampling in Porto Paone and in Bagnoli we found a significant differences in taxa presence resulting in respectively 20 and 8. Beside to give an overview of the meiofaunal communities in Porto Paone to fill the gap in the recent literature, this work represent a starting point to monitor the environmental recovering of the Flegrean marine area

Meiofaunal communities of Nisida and the environmental status of the Flegrean area.

Nisida is a volcanic islet of the Flegrean Islands archipelago connected to the mainland by a stone bridge. It lies very close to Cape Posillipo, just north of Napoli. The islet has a circular shape, with a flooded crater forming the bay of Porto Paone. In the 1800s Nisida was the site of a Bourbon prison, then an Italian state penitentiary, and, now, a reformatory for juvenile offenders. Since then the access to the island has been limited and this results in a very preserved area, but in the 1900 Nisida was encroached upon by the unsightly steel industry in Bagnoli affecting the state of health of marine communities. Recently Meiofauna has acquired an important role as a indicator of the marine ecosystem. We performed a meiofauna survey in Porto Paone, sampling were made from June 2014 to December 2015 in 4 areas resulting by the division of the bay in 4 quadrants (North-South; West-East), in each area 4 samples to cover all kind of substrate present were collected. To have a comparable parameter of the anthropic effect on meiofauna communities we performed sampling also in the closest area of Bagnoli during the period from November to December 2015. The fauna extraction was performed according to Heip et al. (1985). In Porto Paone, throughout the whole study period we found a diversity resulting in the presence of 24 taxa. A seasonal fluctuation has been observed with a major diversity during fall with the presence of 20 taxa versus 14 taxa in summer. Comparing the same period (November/December 2015) of sampling in Porto Paone and in Bagnoli we found a significant differences in taxa presence resulting in respectively 20 and 8. Beside to give an overview of the meiofaunal communities in Porto Paone to fill the gap in the recent literature, this work represent a starting point to monitor the environmental recovering of the Flegrean marine area

Primeros conocimientos sobre la comunidad meiofáunica del lecho de maerl en la bahía de Brest (Bretaña)

Maerl beds, particularly those of Brittany, are important, structurally complex biogenic coastal habitats that form a unique ecosystem with high benthic biodiversity. Although they are relatively well studied throughout Europe, several faunal groups of maerl beds, such as those belonging to the meiofauna, have received little attention. We investigated the meiofaunal abundance, distribution and community structure, with a focus on nematode biomass and diversity, in a maerl area in the Bay of Brest, Brittany, compared with that on a sandy beach (Anse de Dinan, Brittany). Meiofauna was five times more abundant on the maerl bed than on the sandy beach, and 1.5 times more diversified (12 vs. 8 taxa, respectively). Nematode diversity was more than three times higher on the maerl bed than on the sandy beach and showed a distinctive nematode community that was absent from the sandy beach. Maerl beds create more heterogeneous microhabitats and promote a higher diversification of meiofauna and nematode communities than sandy beaches.Los lechos de maerl y, en particular, los de Bretaña, son un importante hábitat costero biogénico y estructuralmente complejo, que forma un ecosistema único con una alta biodiversidad bentónica. A pesar de que varios grupos faunísticos son relativamente bien estudiados en toda Europa, aquellos pertenecientes a la meiofauna han recibido poca atención. Hemos investigado la abundancia, distribución y estructura de la comunidad de la meiofauna, con especial atención a la biomasa y diversidad de nematodos de un área de maerl en la bahía de Brest (Bretaña), en comparación con la de una playa de arena (Anse de Dinan, Bretaña). La meiofauna del maerl fue cinco veces más abundante que la de la playa arenosa, y 1,5 veces más diversificada (12 taxones frente a 8 respectivamente). La diversidad de nematodos del maerl fue más de tres veces mayor que la de la playa arenosa y mostró un único nematodo que, a su vez, resultó ausente en la playa arenosa. Los lechos de maerl crean microhábitats más heterogéneos y promueven una mayor diversificación de la meiofauna y las comunidades de nematodos que los hábitats de playas arenosas

The Membranotropic Peptide gH625 to Combat Mixed Candida albicans/Klebsiella pneumoniae Biofilm: Correlation between In Vitro Anti-Biofilm Activity and In Vivo Antimicrobial Protection

The antibiofilm activity of a gH625 analogue was investigated to determine the in vitro inhibition and eradication of a dual-species biofilm of Candida albicans and Klebsiella pneumoniae, two leading opportunistic pathogens responsible for several resistant infections. The possibility of effectively exploiting this peptide as an alternative anti-biofilm strategy in vivo was assessed by the investigation of its efficacy on the Galleria mellonella larvae model. Results on larvae survival demonstrate a prophylactic efficacy of the peptide towards the infection of each single microorganism but mainly towards the co-infection. The expression of biofilm-related genes in vivo showed a possible synergy in virulence when these two species co-exist in the host, which was effectively prevented by the peptide. These findings provide novel insights into the treatment of medically relevant bacterial&ndash;fungal interaction

A dietary tomato supplement prevents prostate cancer in TRAMP mice

Transgenic adenocarcinoma of the mouse prostate (TRAMP) is a model for progressive prostate cancer that mirrors the stages of the human form. In this study, the effects of a diet enriched with processed whole tomatoes on survival, tumorigenesis, and progression of prostate cancer, and the antioxidant and inflammatory status of TRAMP mice were investigated. Tomato diet significantly increased overall survival (P < 0.01), delayed progression from prostatic intraepithelial neoplasia to adenocarcinoma, and decreased the incidence of poorly differentiated carcinoma. Biochemical data disclosed an increase in serum antioxidant activity and a reduction of serum inflammation/angiogenesis biomarkers of particular importance in prostate carcinogenesis