Rebound macular edema following oral acetazolamide therapy for juvenile X-linked retinoschisis in an Italian family

BACKGROUND: Juvenile X-linked retinoschisis (RS1, OMIM: 312700) is a hereditary vitreoretinal dystrophy characterized by bilateral foveal schisis and, in half of the patients, splitting through the nerve fiber layer in the peripheral retina. In the first decade of life, patients usually develop a decrease in visual acuity. Long-term visual outcomes can be poor due to the limited number of known successful treatments. PURPOSE: The purposes of this study were to present, for the first time, a p.Arg197Cys missense mutation in the RS1 gene (OMIM: 300839) in a four-generation Italian family with RS1 and to examine the clinical response to the treatment with acetazolamide tablets alone or in combination with dorzolamide eye drops as assessed by spectral-domain optical coherence tomography (SD-OCT). METHODS: Eleven individuals, including two brothers with RS1 (patients 1 and 2), underwent a full medical history examination and a comprehensive ocular assessment that involved SD-OCT, fluorescein angiography, electroretinography and DNA analysis. Each RS1 patient received oral acetazolamide (375 mg daily) during the first three months. Thereafter, patient 1 continued only with dorzolamide eyedrops three times a day for a period of three months, while patient 2 spontaneously stopped both medications. RESULTS: Sequence analysis of the RS1 gene identified a hemizygous c.589C>T (p.Arg197Cys) missense mutation in exon 6, which has not been previously reported in an Italian family. A different response to the medical therapy was observed in the four eyes of the two affected brothers hemizygous for this abnormality. Of note, after acetazolamide interruption, a rebound effect on cystoid macular edema reduced the beneficial effects of the initial therapy for RS1 from p.Arg197Cys mutation. Indeed, a minimal rebound effect on cystoid macular edema, and an improvement in visual acuity, was observed in patient 1 during the six months of treatment. Conversely, in patient 2, an initial improvement in cystoid macular edema was not associated with visual acuity changes, followed by a marked rebound effect. CONCLUSION: This study showed that the sequential use of acetazolamide tablets and dorzolamide eye drops should be considered and studied further as a possible treatment for macular edema and visual impairment in patients with RS1 from a hemizygous p.Arg197Cys mutation

Constrained and unconstrained rearrangement minimization problems related to the p-Laplace operator

In this paper we consider an unconstrained and a constrained minimization problem related to the boundary value problem −∆pu = f in D, u = 0 on ∂D. In the unconstrained problem we minimize an energy functional relative to a rearrangement class, and prove existence of a unique solution. We also consider the case when D is a planar disk and show that the minimizer is radial and increasing. In the constrained problem we minimize the energy functional relative to the intersection of a rearrangement class with an affine subspace of codimension one in an appropriate function space. We briefly discuss our motivation for studying the constrained minimization problem

Age and growth of Todaropsis eblanae (Ommastrephidae) through comparison of statoliths, beaks and eye lenses

The age composition of Todaropsis eblanae from the Sardinian waters (western Mediterranean Sea) was studied for the first time through the analysis of growth increments and the comparison of three structures: statoliths, beaks and eye lenses. The analysis was performed on 270 wild specimens of both sexes at different sizes (45-200 mm of mantle length; 6.98-443 g of total weight) and maturity stages (immature, maturing and mature) caught from July to September by trawl net. Significant differences in growth and length-weight relationship were observed between sexes, due to females reach a larger size than males. All the three structures had dimensions positively correlated with the size of the animals and showed clearly readable growth increments. Low values of IAPE, CV and PA confirmed the accuracy and good reproducibility of age readings. Eye lenses showed a very high number of growth increments (106-640), and a daily deposition was excluded. In contrast, beaks and statoliths showed NI values (70-316 and 73-310, respectively) always consistent with the size and maturity of the specimens, then a daily deposition has been suggested and their value compared. Moreover, the Mann-Whitney W-test confirmed a highly significant relationship between the number of growth increments in beaks and statoliths, suggesting that the beak can be considered a valid alternative to statoliths for age estimation in T. eblanae. The absolute growth rates confirm that females grow faster than males. Both sexes showed a higher initial growth rate, which gradually decreases, with the highest values at the age of 101-151 days, before reaching sexual maturity. According to a semelparous cycle, the estimated ages for the largest mature female (310-316 days) and male (288-292 days) suggest a lifespan of less than one year. Overall, the age and growth results reported, although referred to a specific area and a short sampling, could represent useful knowledge for a correct evaluation and management of this important commercial species in the future

Reproduction in Heteroteuthis dispar (Rüppell, 1844) (Mollusca: Cephalopoda): a sepiolid reproductive adaptation to an oceanic lifestyle

Small cephalopods of the genus Heteroteuthis are the most pelagic members in the family Sepiolidae. This study examines the reproductive biology of Heteroteuthis dispar (Rüppell, 1844), the first such study on any member of the genus, based on 46 specimens (27 females and 19 males) collected during the Mar-Eco cruise in the North Atlantic in the region of the Mid-Atlantic Ridge in 2004, and compares it with reproductive features in the less pelagic members of the family. The unusually large spermatophores of the males have a very small ejaculatory apparatus and cement body, relative to the size of the sperm mass. Females first mate when they are still maturing: a large sperm mass (up to 3.4% of the female body mass), consisting of one to several spermatangia, was found in an internal seminal receptacle of the majority of the females examined regardless of their maturity state. The seminal receptacle has a unique form and position in this species. The receptacle is a thin-walled sac at the posterior end of the visceral mass that is an outpocketing of, and opens into, the visceropericardial coelom. Spermatangia and sperm from the spermatangia apparently enter into the visceropericardial coelom (which is mostly occupied by the ovary) from the seminal receptacle indicating that ova are fertilised internally, a strategy unknown for decapodiform cephalopods (squid and cuttlefish), but present in most octopods. Fecundity of Heteroteuthis dispar (1,100–1,300 oocytes) is much higher than in other sepiolids whereas the egg size (mean max. length ∼1.6 mm) is the smallest within the family. Spawning is continuous (sensu Rocha et al. in Biol Rev 76:291–304, 2001). These and other reproductive traits are discussed as being adaptations to an oceanic lifestyle

Molecular and Biological Analysis on Ommastrephes caroli Findings in the Central Western Mediterranean Sea (Sardinian Waters) Including First Age Investigation Using Eye Lenses and Beaks

Molecular identifications based on two mitochondrial markers (cytochrome c oxidase subunit I -COI- and 16S ribosomal RNA gene -16S-) have been implemented to confirm the morphological identification of eight specimens collected in the Central western Mediterranean. Molecular data show they belonged to a recently resurrected species of the genus Ommastrephes, i.e., O. caroli, known to be distributed in the Atlantic Ocean and Mediterranean Sea. Despite this, molecular analyses of COI sequences evidenced the presence of potential genetic differentiation between Mediterranean and Atlantic samples, highlighting the need for further studies, with more individuals to investigate the connectivity between individuals living in the two areas. Furthermore, morphological, biometric and reproductive features here reported, could be useful in evaluating possible distinctive biological features between the Mediterranean and Atlantic individuals. Female mature size was larger than the male. The relationships obtained between the beak measurements and body sizes (DML; TW) were better described by a power model. Asynchronous oocytes development with relatively small oocytes (0.05–1.10 mm) and a protracted intermittent spawning with active feeding were observed. This study also reported for the specie O. caroli the first data on the potential fecundity estimated (840061 oocytes), the oviducal load (90000 ripe oocytes) as well as the number of seminal receptacles and the size and morphology of the spermatangia found in the buccal mass of all mated females. Even if on a low sample size, beaks and eye lenses were used for the first time in O. caroli for age estimation. The statistically significant relationship found between increments counted in eye lenses and beaks highlighted the reliability of the lenses to estimate age in O. caroli, even if further studies will be needed for its validation. Assuming a daily increment for both structures, a mean life span of about 12–13 months was estimated for both sexes, which is consistent with the sexual maturity condition observed in all the samples and the semelparity known for cephalopods coleoids

Health-related quality of life in patients with primary open-angle glaucoma. An italian multicentre observational study

PurposeAs a progressive condition, glaucoma may impair health-related quality of life (HRQoL), due to vision loss and other factors. This study evaluated HRQoL in a cohort of patients treated for primary open-angle glaucoma (POAG) and assessed its association with clinical features. MethodsThis was an Italian, multicentre, cross-sectional, observational study with the subgroup of newly diagnosed patients with POAG prospectively followed up for one year. Patients with previous or new diagnosis (or strong clinical suspicion) of POAG aged >18years were considered eligible. Information was collected on demographic characteristics, medical history, clinical presentation and POAG treatments. HRQoL was measured using the 25-item National Eye Institute Visual Function Questionnaire (NEI-VFQ-25) and Glaucoma Symptom Scale (GSS). Subscale and total scores were obtained and a Pearson correlation coefficient between instruments' scores calculated. ResultsA total of 3227 patients were enrolled from 2012 to 2013 and 3169 were analysed. Mean age was 66.9years. A total of 93.8% had a previous diagnosis (median duration: 8.0years). Median values for mean deviation and pattern standard deviation were 3.9 and 3.6 dB, respectively. Mean scores on most subscales of the NEI-VFQ-25 exceeded 75.0 and mean GSS subscale scores ranged between 70.8 and 79.7 (with a total mean score of 74.8). HRQoL scores on both scales were significantly inversely associated with POAG severity. ConclusionIn this large sample of Italians treated for POAG, disease severity was limited and HRQoL scores were high. QoL decreased with advancing disease severity. These findings confirm the role of vision loss in impairing QoL in POAG, underlying the importance of timely detection and appropriate treatment

A Periodic Transmission Line Model for Body Channel Communication

Body channel communication (BCC) is a technique for data transmission exploiting the human body as communication channel. Even though it was pioneered about 25 years ago, the identification of a good electrical model behind its functioning is still an open research question. The proposed distributed model can then serve as a supporting tool for the design, allowing to enhance the performances of any BCC system. A novel finite periodic transmission line model was developed to describe the human body as transmission medium. According to this model, for the first time, the parasitic capacitance between the transmitter and the receiver is assumed to depend on their distance. The parameters related to the body and electrodes are acquired experimentally by fitting the bio-impedentiometric measurements, in the range of frequencies from 1 kHz to 1 MHz, obtaining a mean absolute error lower than 4° and 30 $Omega$ for the phase angle and impedance modulus, respectively. The proposed mathematical framework has been successfully validated by describing a ground-referred and low-complexity system called Live Wire, suitable as supporting tool for visually impaired people, and finding good agreement between the measured and the calculated data, marking a ±3% error for communication distances ranging from 20 to 150 cm. In this work we introduced a new circuital approach, for capacitive-coupling systems, based on finite periodic transmission line, capable to describe and model BCC systems allowing to optimize the performances of similar systems

A Periodic Transmission Line Model for Body Channel Communication

Body channel communication (BCC) is a technique for data transmission exploiting the human body as communication channel. Even though it was pioneered about 25 years ago, the identification of a good electrical model behind its functioning is still an open research question. The proposed distributed model can then serve as a supporting tool for the design, allowing to enhance the performances of any BCC system. A novel finite periodic transmission line model was developed to describe the human body as transmission medium. According to this model, for the first time, the parasitic capacitance between the transmitter and the receiver is assumed to depend on their distance. The parameters related to the body and electrodes are acquired experimentally by fitting the bio-impedentiometric measurements, in the range of frequencies from 1 kHz to 1 MHz, obtaining a mean absolute error lower than 4° and 30Ω for the phase angle and impedance modulus, respectively. The proposed mathematical framework has been successfully validated by describing a ground-referred and low-complexity system called Live Wire, suitable as supporting tool for visually impaired people, and finding good agreement between the measured and the calculated data, marking a ±3% error for communication distances ranging from 20 to 150 cm. In this work we introduced a new circuital approach, for capacitive-coupling systems, based on finite periodic transmission line, capable to describe and model BCC systems allowing to optimize the performances of similar systems