Mean reticolocyte hemoglobin content index plays a key role to identify children who are carriers of β –thalassemia

Reticulocyte (r) and red blood cell (RBC) indices provide reliable parameters for screening and monitoring iron deficiency anemia (IDA) patients and β-thalassemia trait (BTT) carriers. The aim of this study is to identify a simple method for use to distinguish β-thalassemia trait carriers from IDA and to evaluate the correlation between BTT genetic mutation and MCV values and new discrimination index for the detection of β-thalassemia trait (DI-BTT). We analyzed CHr, MCHCr, MCVr, RBC, mean cellular hemoglobin concentration (MCHC) and mean cellular volume (MCV) indices among a pediatric population of IDA patients (n=90), βthalassemia trait carriers (n=72) and normal controls (NC) (n=131). Furthermore, to distinguish IDA patients from β-thalassemia trait carriers we evaluated clinical utility of new DI for the detection BTTcarriers, using the following polynomial: (RBC × MCHC × 50/MCV)/CHr. We found that CHr, MCVr and DI-BTT mean values were significantly different between βthalassemia trait carriers and IDA patients. CHr, MCVr and DI-BTT plotting curves showed exclusive distribution in β-thalassemia trait carriers. Moreover, DI-BTT was very accurate in differentiating β-thalassemia trait carriers from IDA patients. All BTT patients showed a heterozygous mutation of the β-globin gene including CD39, IVS1.110, IVS1.6 and IVS2.745, IVS2.1 and IVS1.1. The highest MCV values were displayed by those carrying the IVS1.6 mutation. Conclusions: The simultaneous measurement and plotting of CHr and MCVr indices, as well as the DI-BTT allow to distinguish β-thalassemia carriers from IDA patients

The inositol 5-phosphatase SHIP2 regulates endocytic clathrin-coated pit dynamics

SHIP2 is recruited early to clathrin-coated pits by the scaffold protein intersectin and dissociates before fission

Genetic Interaction between MTMR2 and FIG4 Phospholipid Phosphatases Involved in Charcot-Marie-Tooth Neuropathies

We previously reported that autosomal recessive demyelinating Charcot-Marie-Tooth (CMT) type 4B1 neuropathy with myelin outfoldings is caused by loss of MTMR2 (Myotubularin-related 2) in humans, and we created a faithful mouse model of the disease. MTMR2 dephosphorylates both PtdIns3P and PtdIns(3,5)P2, thereby regulating membrane trafficking. However, the function of MTMR2 and the role of the MTMR2 phospholipid phosphatase activity in vivo in the nerve still remain to be assessed. Mutations in FIG4 are associated with CMT4J neuropathy characterized by both axonal and myelin damage in peripheral nerve. Loss of Fig4 function in the plt (pale tremor) mouse produces spongiform degeneration of the brain and peripheral neuropathy. Since FIG4 has a role in generation of PtdIns(3,5)P2 and MTMR2 catalyzes its dephosphorylation, these two phosphatases might be expected to have opposite effects in the control of PtdIns(3,5)P2 homeostasis and their mutations might have compensatory effects in vivo. To explore the role of the MTMR2 phospholipid phosphatase activity in vivo, we generated and characterized the Mtmr2/Fig4 double null mutant mice. Here we provide strong evidence that Mtmr2 and Fig4 functionally interact in both Schwann cells and neurons, and we reveal for the first time a role of Mtmr2 in neurons in vivo. Our results also suggest that imbalance of PtdIns(3,5)P2 is at the basis of altered longitudinal myelin growth and of myelin outfolding formation. Reduction of Fig4 by null heterozygosity and downregulation of PIKfyve both rescue Mtmr2-null myelin outfoldings in vivo and in vitro

Defective Membrane Remodeling in Neuromuscular Diseases: Insights from Animal Models

Proteins involved in membrane remodeling play an essential role in a plethora of cell functions including endocytosis and intracellular transport. Defects in several of them lead to human diseases. Myotubularins, amphiphysins, and dynamins are all proteins implicated in membrane trafficking and/or remodeling. Mutations in myotubularin, amphiphysin 2 (BIN1), and dynamin 2 lead to different forms of centronuclear myopathy, while mutations in myotubularin-related proteins cause Charcot-Marie-Tooth neuropathies. In addition to centronuclear myopathy, dynamin 2 is also mutated in a dominant form of Charcot-Marie-Tooth neuropathy. While several proteins from these different families are implicated in similar diseases, mutations in close homologues or in the same protein in the case of dynamin 2 lead to diseases affecting different tissues. This suggests (1) a common molecular pathway underlying these different neuromuscular diseases, and (2) tissue-specific regulation of these proteins. This review discusses the pathophysiology of the related neuromuscular diseases on the basis of animal models developed for proteins of the myotubularin, amphiphysin, and dynamin families. A better understanding of the common mechanisms between these neuromuscular disorders will lead to more specific health care and therapeutic approaches

Laboratory study on a beach drainage system

none4P. Contestabile; F. Aristodemo; D. Vicinanza; P. CiavolaP., Contestabile; Aristodemo, Francesco; D., Vicinanza; P., Ciavol

Swash zone hydrodynamic of a drained beach

The present paper deals with an experimental investigation performed at Large Wave Channel (Grosser Wellen Kanal, GWK) in Hannover. The general aim of the project was to improve the knowledge of the hydrodynamic and morphodynamic behavior of a drained beach to define reliable design criteria of the system. The tests allowed to investigate the shore zone processes, including in-filtration and ex-filtration flows. The obtained results gave information to discuss the weakness and strength points of the Beach Drainage System (BDS) as a tool able to reduce beach erosion. This paper shows the experimental set up and first results concerning water table behavior. Drain efficiency in water table lowering has been evaluated. Measures of water table levels, also in undrained conditions, can be useful to investigate shore zone hydrodynamics

Aspetti idrodinamici della zona di swash in presenza di un sistema di drenaggio delle spiagge

I sistemi di drenaggio delle spiagge (BDS) possono rappresentare, in alcuni casi, una possibile alternativa ai tradizionali sistemi rigidi per la difesa dei litorali dall’erosione costiera. Il sistema ha lo scopo di abbassare artificialmente la linea di falda, aumentando lo spessore della fascia insatura all’interno della spiaggia e favorendo l’infiltrazione del flusso di risalita e, quindi, il deposito dei sedimenti nella zona di swash. Nel presente lavoro sono descritti alcuni aspetti idrodinamici derivanti da un’attività sperimentale 2D in larga scala condotta presso il canale GWK di Hannover. In particolare, vengono analizzate le variazioni della water table e le portate drenate indotte da un particolare sistema costituito da 4 dreni installati all’interno della spiaggia e posti a distanza variabile dalla linea di riva. L’obiettivo della configurazione adottata, attraverso prove a regime statico e dinamico, è stato indirizzato alla verifica della posizione ottimale dei dreni. I risultati dedotti dalle analisi hanno mostrato l’efficacia dei dreni in termini di abbassamento della linea di falda, con conseguente aumento della zona insatura all’interno della spiaggia. Tuttavia, non è risultato possibile definire un’univoca correlazione tra l’abbassamento della linea di falda e la distanza dalla linea di riva dei dreni al fine di definire una loro corretta sistemazione planimetrica. Le ridotte portate drenate sono risultate essere dipendenti dal regime di moto a pelo libero che s’instaura all’interno dei dreni

Offshore Wind and Wave Energy assessment around Malè and Magoodhoo Island (Maldives)

The Maldives are situated in the remote equatorial Indian Ocean, covering 900 km from north to south. The 26 coral atolls forming the archipelago are composed of sand and coral with a maximum height of about 2.30 m above the mean sea level. Periodic flooding from storm surges and the frequent freshwater scarcity are perceived by the population and the economic operators as the major environmental stresses. Moreover, the strong dependence on imported fossil fuels increases, even more, the environmental concerns. Diesel, in fact, still represents the main source of power generation, typically through privately managed small diesel sets. The real challenge for this area is to promote the environmental quality with socioeconomic growth. The present study aims to evaluate the strategic effectiveness to face these issues by wave and offshore wind energy. Resources using a 10-year hindcast dataset are here examined. The annual offshore wave power was found to range between 8.46 kW/m and 12.75 kW/m, while the 10 m and 100 m mean wind power density is respectively 0.08 kW/m2 and 0.16 kW/m2. Based on these results, an environmentally and socio-economically sustainable best-case scenario is constructed and two atoll islands (Malè and Magoodhoo) are specifically investigated. As a result, multifunctional structures and multi-use systems, which combine power generation, desalinization and coastal defence, are strongly recommended