Light environment and Seasonal Dynamics of Microalgae in the Annual Sea Ice at Terra Nova Bay, Ross Sea, Antarctica

We investigated the physical conditions of the Spring pack ice environment at Terra Nova Bay to understand their influence on the structure and physiology of sympagic microalgae. Bio-optical methods were used to study the availability and spectral quality of solar radiation, both inside and underneath the ice cover. Pack ice thickness was around 2.5 m, with a temperature between -2 and -7°C. On average, only 1.4% of surface PAR penetrated to the bottom ice and less than 0.6% below platelet ice level. Surface UV-B radiation under the bottom ice was 0.2-0.4%. Biomass concentrations up to 2400 mg Chl a m-3, dominated by two species of diatoms (Entomoneis kjellmannii and Nitschia cf. stellata), showed marked spatial and temporal patterns. Maximum values were in the platelet ice during the first half of November, and in the bottom ice two weeks later. Strong shade adaptation characteristics emerged clearly and explained the relevant abundance of microalgae within the sea ice, with specific absorption coefficients (a*) as low as 0.005 m2 (mg Chl a)-1 and the photo-acclimation index (Ek) in the range of in situ irradiance. The biomass specific production values were low, around 0.12-0.13 mg C mg Chl a-1 h-1. The hypothesis suggesting bottom ice colonization by platelet ice microalgae is supported here

Variable phenotype in 17q12 microdeletions: Clinical and molecular characterization of a new case

Microdeletions of 17q12 including the hepatocyte nuclear factor 1 beta (HNF1B) gene, as well as point mutations of this gene, are associated with the Renal Cysts and Diabetes syndrome (RCAD, OMIM 137920) and genitourinary alterations. Also, microdeletions encompassing HNF1B were identified as a cause of Mayer\u2013Rokitansky\u2013 K\ufcster\u2013Hauser Syndrome (MRKH, OMIM277000) in females and, recently,were associatedwith intellectual disability, autistic features, cerebral anomaly and facial dysmorphisms. In this report, we describe a boywith a deletion in 17q12 region detected by SNP array, encompassing the HNF1B gene, that showed dysmorphic features, intellectual disability (ID), serious speech delay and autistic features. In addition, obesity was observed. In order to study the parental origin of the rearrangement, we analyzed selected SNPs in the deleted area in the patient and his parents, showing Mendelian incompatibilities suggesting a de novo deletion on the chromosome of maternal origin. Our case confirms the incomplete penetrance and variable expressivity of this deletion, its complex clinical variability, and strengthens the evidence that ID and stereotyped behaviors may be part of the phenotypic spectrum characterizing the affected patients. Also, it is useful to further delineate the phenotypes associated to the deletion being the first case in which obesity has been documented. We present a genotype\u2013phenotype correlation discussing the possible role of some genes, encompassed by the deletion, in the etiology of the observed phenotypes

Autism spectrum disorder in Italy: demand for an integrated epidemiological surveillance system.

Autism spectrum disorder (ASD) is a complex neurodevelopmental syndrome of emerging public health concern, according to a documented significant increase of diagnosed cases of ASD in Europe and USA. In Italy, actually, it is not possible to estimate at national level a reliable ASD occurrence by using existing health and scholastic data flows. The lack of information has implications on social and healthcare services dedicated to subjects affected by ADS. The database of the Italian institute in charge of social and security assistance was accessed at the provincial level to investigate the ASD cases occurred in the Palermo province. The official reports of all subjects visited in 2013 by INPS physicians were analyzed by using an automatic software and diagnosis consistent with ASD were ex- tracted and flagged. Our findings support the choice of alternative use of INPS administrative database in order to define a reliable ASD occurrence estimate as first step to develop an integrated epidemiological surveillance system on AS

Tumoral calcinosis: a case report.

Tumoral calcinosis is a rare tumour-like mass characterized by soft tissue calcification of obscure aetiology. A case of tumoral calcinosis is presented here, and its clinical, radiological and pathological features are described. The differential diagnosis versus hydatid cyst is discussed. Diagnosis is possible with imaging techniques but histopathological study is essential to establish it with certainty. Complete surgical excision appears to be the only effective treatme

[Obstructive jaundice caused by hepatocellular carcinoma].

The Authors take a hint from recent observation of two patients with hepatocellular carcinoma presenting with obstructive jaundice to analyse the litterature and their clinical cases. They conclude that in the evolution of hepatocellular carcinoma can be found "early" or "late" jaundice. The latest is hepatocellular and/or obstructive jaundice and it is harbinger of fatal prognosis because of a big hepatocelluar carcinoma that has invaded biliary tree and/or liver failure by concomitant cirrhosis. The "early" jaundice appears when the tumor is still small and it is always obstructive due to intrabile duct tumor growth. This kind of jaundice has a good prognostic meaning because, together with imaging techniques, permits an early diagnosis of the hepatocellular carcinoma necessary for satisfactory palliation or occasional cure

Biliary complications of laparoscopic cholecystectomy: our experience compared with laparotomic cholecystectomy

[]. . Jun-Jul;(): Authors: Abstract Major bile ducts injuries during cholecystectomy were one of the most common complications, but they were becoming rare. With the introduction and the fast diffusion of laparoscopy their incidence has increased. For this reason we have reviewed our experience about open and laparoscopic cholecystectomy. We report 18 patients, 8 male and 10 female with age ranged from 27 to 73 years, with common bile duct injuries. Only three patients (20%) underwent surgery in our Department of Surgery of the University of Cagliari. Of these patients, two were operated on open and one laparoscopic cholecystectomy. They represent 0.08% and 0.36% of the respective groups. The most common cause of this complication is peritonitis (94.5%), followed by bleeding and congenital anomalies of the biliary tree, that were present in 5.5% respectively. The conversion to laparotomy was necessary in 3.9% of our patients, while residual choledocholithiasis in one patient was treated by laparotomic reexploration because of the unsuccessful ERCP. In summary in our opinion the prevention of this complication depends on appropriate indication and choice of the patients, as well as an adequate training. The ERCP, if indicated, must be done before laparoscopic cholecystectomy. PMID: [PubMed - indexed for MEDLINE