Ultrastructure of euspermatozoa and paraspermatozoa in the marine gastropod Adelomelon beckii (Caenogastropoda, Volutidae)

The sperm morphology of Adelomelon beckii is described by optical and transmission electron microscopy. Both euspermatozoa and paraspermatozoa were found in the specimens studied. Euspermatozoa are filiform and have an elongate nucleus capped by an acrosome. A small basal plate lies between the base of the acrosome and the nucleus. The mid-piece consists of U-shaped mitochondria wrapped helically around the central axoneme. A dense annulus at the junction of the mid-piece and glycogen piece is found, ending in a short end-piece, composed of the axoneme surrounded by a plasma membrane. Two types of paraspermatozoa are found, both vermiform but differing internally with respect to the disposition and number of axonemes, as well as to the types of secretory vesicles. We suggest the use of paraspermatozoa as a systematic character to reveal phylogenetic relationships in this family.     

Geographical variation in the diet of the Antarctic fur seal<Emphasis Type="Italic"> Arctocephalus gazella</Emphasis>

The diet of non-breeding male Antarctic fur seals Arctocephalus gazella was investigated at different localities of the Antarctic Peninsula (Cierva Point and Hope Bay), South Shetland Islands (Deception Island and Potter Peninsula) and the South Orkney Islands (Laurie Island), by the analysis of 438 scats collected from January to March 2000. The composition of the diet was diverse, with both pelagic and benthic-demersal prey represented in the samples. Antarctic krill Euphausia superba was the most frequent and numerous prey at all the study sites except at Cierva Point, followed by fish, penguins and cephalopods. Antarctic krill also predominated by mass, followed by either fish or penguins. Fish were the second most important prey by mass at the Antarctic Peninsula whereas penguins were the second most important prey by mass at the South Shetland and South Orkney Islands. Among fish, Pleuragramma antarcticum was the most important species in the diet of the Antarctic fur seals at the Antarctic Peninsula whereas Gymnoscopelus nicholsi predominated at the South Shetland and South Orkney Islands. The results are compared with previous studies, and the possibility of implementing monitoring studies on the distribution/abundance of myctophids and P. antarcticum based on the analysis of the diet of the Antarctic fur seal is considered.     

Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene

We report a 14-year-old-boy with markedly elevated serum creatine kinase (CK) levels, in whom massive triglyceride storage was found in peripheral blood leukocytes and in muscle biopsy. Sequencing PNPLA2, the gene encoding the adipose triglyceride lipase (ATGL) and responsible for the neutral lipid storage disease with myopathy (NLSDM), we identified two heterozygous mutations, including a previously reported nonsense and a novel missense mutation in the patatin domain of the gene.Lipid storage myopathy can be clinically silent in childhood and presenting only with hyperCKemia.     

Improving the characterization of radiologically isolated syndrome suggestive of multiple sclerosis

Objective

To improve the characterization of asymptomatic subjects with brain magnetic resonance imaging (MRI) abnormalities highly suggestive of multiple sclerosis (MS), a condition named as “radiologically isolated syndrome” (RIS).

Methods

Quantitative MRI metrics such as brain volumes and magnetization transfer (MT) were assessed in 19 subjects previously classified as RIS, 20 demographically-matched relapsing-remitting MS (RRMS) patients and 20 healthy controls (HC). Specific measures were: white matter (WM) lesion volumes (LV), total and regional brain volumes, and MT ratio (MTr) in lesions, normal-appearing WM (NAWM) and cortex.

Results

LV was similar in RIS and RRMS, without differences in distribution and frequency at lesion mapping. Brain volumes were similarly lower in RRMS and RIS than in HC (p<0.001). Lesional-MTr was lower in RRMS than in RIS (p = 0.048); NAWM-MTr and cortical-MTr were similar in RIS and HC and lower (p<0.01) in RRMS. These values were particularly lower in RRMS than in RIS in the sensorimotor and memory networks. A multivariate logistic regression analysis showed that 13/19 RIS had ≥70% probability of being classified as RRMS on the basis of their brain volume and lesional-MTr values.

Conclusions

Macroscopic brain damage was similar in RIS and RRMS. However, the subtle tissue damage detected by MTr was milder in RIS than in RRMS in clinically relevant brain regions, suggesting an explanation for the lack of clinical manifestations of subjects with RIS. This new approach could be useful for narrowing down the RIS individuals with a high risk of progression to MS.     

Vitellogenesis and changes in lipid and protein content of oocytes of Trophon geversianus (Neogastropoda: Muricidae) in Golfo San José (Chubut,Argentina)

The reproductive cycle of Trophon geversianus (Pallas 1774) population from Golfo San José (Chubut, Argentina, 42°33′S, 64°33′W) was studied using histochemical methods and digital image analysis. For such purpose, ovary samples were taken monthly between July 2006 and August 2007 and stained with hematoxylin and eosin, Sudan black B (to identify lipids) or Schiff’s ninhydrin (to identify proteins). Four different gametogenic stages were described: oogonias, previtellogenic oocytes, early vitellogenic oocytes, and late vitellogenic oocytes. Two spawning events were registered; one between September and October 2006, and a second one between February and March 2007. Oocyte quality was determined by the changes in lipid and protein composition during gametogenesis. Through digital image analysis, a lipid and a protein indexes (LI and PI) were calculated. Significant differences were observed in LI over month sampled, contrarily to what PI showed. A significant and positive correlation was found between lipid and protein content and oocytes areas, indicating that these nutrients accumulate during the entire vitellogenesis. Also, when dividing the oocytes into two size groups, analysis indicates a positive correlation between LI and oocyte area for smaller area oocytes. This demonstrates that while proteins accumulate linearly throughout vitellogenesis process, lipids accumulate in two steps: first at a growing rate, secondly at constant rate. This information is essential to determine the nutritional requirements of brood stock individuals at hatcheries in this potential fishery resource that inhabits patagonian waters.     

Trophi morphology and its usefulness for identification of formalin-preserved species of Synchaeta Ehrenberg, 1832 (Rotifera: Monogononta: Synchaetidae)

A study of temporal and spatial distribution of zooplankton frequently requires identification to species level. In such studies, samples are usually fixed, but according to different authors rotifer genera such as Synchaeta (Ehrenberg, 1832) can only be identified in live samples. A procedure for the identification of preserved specimens of Synchaeta is presented, permitting ecological studies without the examination of live material. Trophus morphology, investigated by light and scanning electron microscopy, was related to morphological characteristics of preserved specimens. In this way, body length was used to group formalin-preserved specimens into Synchaeta gr. tremula-oblonga sensu Ruttner-Kolisko (1974) (170 μm) or Synchaeta gr. stylata-pectinata sensu Ruttner-Kolisko (1974) (190 μm). Furthermore, body length, colour and shape were used to identify Synchaeta grandis (Zacharias, 1893), Synchaeta pectinata (Ehrenberg, 1832), Synchaeta kitina (Rousselet, 1902) and Synchaeta lakowitziana (Lucks, 1930). It was, however, impossible to distinguish Synchaeta tremula (Müller, 1786) from Synchaeta oblonga (Ehrenberg, 1832) by their trophi because of contradictions in the diagnostic keys and monographs regarding trophus morphology.     

Vitellogenesis in spiders: first analysis of protein changes in different reproductive stages of Polybetes pythagoricus

Vitellogenesis represents one of the most vital processes of oviparous species during which various proteins, carbohydrates, and lipids are synthesized and stored inside the developing oocytes. Through analyzing protein changes in the midgut diverticula, hemolymph, and ovaries of females throughout the different vitellogenic stages of the spider Polybetes pythagoricus, we determined the origin of the different proteins involved in the formation of lipovitellins (LVs) along with the existence of a linkage between the hemocyanin and this vital process. An increase in the total protein content of the midgut diverticula, hemolymph, and ovary occurred throughout vitellogenesis followed by a decrease in those levels after laying. The presence of hemocyanin in egg and in LV2, as well as its accumulation in the ovary throughout the vitellogenesis process, was determined. Considering that all biologic processes depend on the correct structure and function of proteins, this study establishes, for the first time for the Order Araneae, the coexistence of three different origins of vitellogenesis-related proteins: one predominantly ovarian involving peptides of 120, 75, 46, and 30 kDa; another extraovarian one originated from the midgut diverticula and represented by a 170 kDa peptide, and a third hemolymphatic one, represented by the 67 kDa peptide.

     

A prospective observational study of associated anomalies in Hirschsprung’s disease

Background

Associated anomalies have been reported in around 20% of Hirschsprung patients but many Authors suggested a measure of underestimation. We therefore implemented a prospective observational study on 106 consecutive HSCR patients aimed at defining the percentage of associated anomalies and implementing a personalized and up-to-date diagnostic algorithm.

Methods

After Institutional Ethical Committee approval, 106 consecutive Hirschsprung patients admitted to our Institution between January 2010 and December 2012 were included. All families were asked to sign a specific Informed Consent form and in case of acceptance each patient underwent an advanced diagnostic algorithm, including renal ultrasound scan (US), cardiologic assessment with cardiac US, cerebral US, audiometry, ENT and ophthalmologic assessments plus further specialist evaluations based on specific clinical features.

Results

Male to female ratio of our series of patients was 3,4:1. Aganglionosis was confined to the rectosigmoid colon (classic forms) in 74,5% of cases. We detected 112 associated anomalies in 61 (57,5%) patients. The percentage did not significantly differ according to gender or length of aganglionosis. Overall, 43,4% of patients complained ophthalmologic issues (mostly refraction anomalies), 9,4% visual impairment, 20,7% congenital anomalies of the kidney and urinary tract, 4,7% congenital heart disease, 4,7% hearing impairment or deafness, 2,3% central nervous system anomalies, 8,5% chromosomal abnormalities or syndromes and 12,3% other associated anomalies.

Conclusions

Our study confirmed the underestimation of certain associated anomalies in Hirschsprung patients, such as hearing impairment and congenital anomalies of the kidney and urinary tract. Subsequently, based on our results we strongly suggest performing renal US and audiometry in all patients. Conversely, ophthalmologic assessment and cerebral and heart US can be performed according to guidelines applied to the general population or in case of patients with suspected clinical features or chromosomal abnormalities. This updated diagnostic algorithm aims at improving overall outcome thanks to better prognostic expectations, prevention strategies and early rehabilitation modalities. The investigation of genetic background of patients with associated anomalies might be the next step to explore this intriguing multifactorial congenital disease.

     

A very rare association of three mutations of the HFE gene for hemochromatosis

In the present paper, we describe a patient who is a compound heterozygote for three mutations in the HFE gene: C282Y, H63D, and E168Q. The patient's mother carries two copies of H63D and one copy of E168Q; the patient's father is heterozygous for C282Y. The family study indicates that the patient, as well as his sister, a maternal uncle, and a first cousin, all have inherited a single HFE allele that contains two mutations H63D and E168Q. The clinical symptoms and laboratory findings of the patient and his relatives are consistent with the conclusion that the E168Q mutation by itself is unlikely to result in hemochromatosis.