Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management.

Mucopolysaccharidosis type IVA (MPS IVA, or Morquio syndrome type A) is an inherited metabolic lysosomal disease caused by the deficiency of the N-acetylglucosamine-6-sulfate sulfatase enzyme. The deficiency of this enzyme accumulates the specific glycosaminoglycans (GAG), keratan sulfate, and chondroitin-6-sulfate mainly in bone, cartilage, and its extracellular matrix. GAG accumulation in these lesions leads to unique skeletal dysplasia in MPS IVA patients. Clinical, radiographic, and biochemical tests are needed to complete the diagnosis of MPS IVA since some clinical characteristics in MPS IVA are overlapped with other disorders. Early and accurate diagnosis is vital to optimizing patient management, which provides a better quality of life and prolonged life-time in MPS IVA patients. Currently, enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT) are available for patients with MPS IVA. However, ERT and HSCT do not have enough impact on bone and cartilage lesions in patients with MPS IVA. Penetrating the deficient enzyme into an avascular lesion remains an unmet challenge, and several innovative therapies are under development in a preclinical study. In this review article, we comprehensively describe the current diagnosis, treatment, and management for MPS IVA. We also illustrate developing future therapies focused on the improvement of skeletal dysplasia in MPS IVA

Tsunami hazard assessment in the southern Colombian Pacific basin and a proposal to regenerate a previous barrier island as protection

ABSTRACT: In this study, the tsunami hazard posed to 120 000 inhabitants of Tumaco (Colombia) is assessed, and an evaluation and analysis of regenerating the previous El Guano Island for tsunami protection is conducted. El Guano Island was a sandy barrier island in front of the city of Tumaco until its disappearance during the tsunami of 1979; the island is believed to have played a protective role, substantially reducing the scale of the disaster. The analysis is conducted by identifying seismotectonic parameters and focal mechanisms of tsunami generation in the area, determining seven potential generation sources, applying a numerical model for tsunami generation and propagation, and evaluating the effect of tsunamis on Tumaco. The results show that in the current situation, this area is vulnerable to impact and flooding by tsunamis originating nearby. El Guano Island was found to markedly reduce flood levels and the energy flux of tsunami waves in Tumaco during the 1979 tsunami. By reducing the risk of flooding due to tsunamis, the regeneration and morphological modification of El Guano Island would help to protect Tumaco

Prevalence and associated factors with poor sleep quality in non-professional caregivers

This study aimed to determine the prevalence and associated factors of poor sleep quality in non-professional caregivers. With this purpose, cross-sectional data were collected from 201 dependent people’s family caregivers using the Pittsburgh Sleep Quality Index (PSQI), the Caregiver Burden Inventory (CBI), the General Health Questionnaire (GHQ-12), and an ad hoc questionnaire to obtain sociodemographic data. A total of 153 family caregivers were categorized as poor sleepers (PSQI > 5), resulting in a prevalence of poor sleep quality of 76.1% (95% CI = 70.5–82.5). Poor sleepers were more likely to care for persons with mental disorders (χ2 = 7.31; p < 0.01) and scored significantly higher on perceived burden (z = −4.44; p < 0.001), psychological distress (z = −6.24; p < 0.001), and in all the PSQI subscales (p < 0.001), compared with good sleepers (PSQI ≤ 5). By contrast, no differences were found between poor and good sleepers in age, gender, years providing care, and daily hours of care. Multiple linear regression analysis showed that the factors of caregiver burden (β = 0.15; p < 0.05) and psychological distress (β = 0.53; p < 0.001) were significantly associated with sleep quality in dependent people’s family caregivers. Cognitive-behavioral strategies to improve sleep quality in the primary health care of family caregivers are suggestedSpin-off of the University of Santiago de Compostela (Santiago de Compostela, Spain) “Xuntos. Psychological and Psychiatric Care” (2019-CE081-6)S

Variations in AXIN2 predict risk and prognosis of colorectal cancer

Objective: Colorectal cancer (CRC) and hypodontia are frequent and different diseases with common genes are involved in their etiology. The objective of this study was to identify the association between AXIN2 rs2240308 with hypodontia and CRC. Patients and methods: This study consisted of 50 individuals with hypodontia, 50 individuals with CRC, and 155 healthy individuals from Colombia. SNP genotyping assays of rs2240308 were performed and family history of cancer in individuals with hypodontia was documented. In silico analysis was implemented to define the genomic profile of the AXIN2 gene associated with CRC. Multivariate analysis, chi square, odd ratio tests, and R software were used for statistical analysis. Results: AXIN2 rs2240308 showed association with CRC (OR = 5.4 CI: 2.7–10.4; p < 0.001) and with other familial cancer in individuals with hypodontia (p < 0.005 OR = 1.75, 95% CI: 1.22–6.91). In silico analysis showed that variations in AXIN2 found in CRC patients, were more frequently in earlier stages of tumor and patients who carry variations in the AXIN2 gene have a worse prognosis (p < 0.05). The association between AXIN2 rs2240308 with hypodontia was not significant. Conclusions: These results suggest that AXIN2 rs2240308 polymorphism is associated with CRC and AXIN2 could be a risk marker for predisposition and prognosis of CRC.Fil: Otero, L.. Pontificia Universidad Javeriana; ColombiaFil: Lacunza, Ezequiel. Universidad Nacional de La Plata. Facultad de Ciencias Médicas. Centro de Investigaciones Inmunológicas Básicas y Aplicadas; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - La Plata; ArgentinaFil: Vasquez, V.. Pontificia Universidad Javeriana; ColombiaFil: Arbelaez, V.. No especifíca;Fil: Cardier, F.. Pontificia Universidad Javeriana; ColombiaFil: González, F.. No especifíca

Tsunami Resonance in Palma Bay and Harbor, Majorca Island, as induced by the 2003 Western Mediterranean Earthquake

ABSTRACT: he tsunami induced by the May 21, 2003, Algerian Boumerde`s-Zemmouri earthquake (moment magnitude Mw=6.9) propagated across the western Mediterranean Basin, thereby causing material damages in some harbors and coastal areas. This was the case in the Balearic Islands and particularly the Palma harbor. Attempts to simulate the 2003 tsunami event found discrepancies between tsunami arrival times and wave amplitude when comparing tide gauge records with results from numerical models. To date, all published model results of the amplitude of the tsunami are underestimations, attributed to numerical limitations due to the lack of high-resolution bathymetry and poor definition of harbor geometry. Other views suggest the nappropriateness of the available seismic source parameterizations and the possible occurrence of submarine landsliding triggered by the earthquake that has not been included in the numerical simulations. In this article we present the results of a numerical study aimed at better understanding the response of the interacting Palma bay and harbor under the impact of the 2003 western Mediterranean tsunami. The transference of the tsunami energy from the generation area to the continental shelf, the bay, and the harbor has been studied and compared with the natural oscillation modes of the bay and harbor water bodies. Our work includes a sensitivity analysis of the source parameterization and the bathymetry grid size for the bay and harbor as a way to explain the discrepancies between simulations and observations. The Palma harbor tide gauge shows that energy from the tsunami concentrated mainly in periods that fitted to the natural modes of oscillations of the bay. Therefore, the significant wave amplification observed inside the harbor, mainly in its northern basin, was generated by a resonance effect induced by Palma bay. The improvement of the bathymetry grid resolution in the bay and harbor domains and the inclusion in the simulations of the exact harbor geometry and internal configuration result in a slight wave-high increment that is much below the wave height recorded in the tide gauge. Our results strongly point to a necessary revision of the tsunami seismic source parameters

HIV and antiretroviral treatment knowledge gaps and psychosocial burden among persons living with HIV in Lima, Peru

This study aims to describe knowledge on HIV and antiretroviral (ARV) treatment and psychosocial factors among people living with HIV (PLWH) in Lima, Perú, to explore characteristics associated to this knowledge, and determine its impact on sustained viral suppression. A cross-sectional survey was conducted among 171 PLWH at the largest referral health care center in Lima. The psychosocial factors measured were depression, risk of alcoholism, use of illegal drugs and disclosure. A participant had "poor knowledge" when less than 80% of replies were correct. Sustained viral suppression was defined as two consecutive viral loads under 50 copies/mL. A total of 49% and 43% had poor HIV and ARV knowledge respectively; 48% of the study population screened positive for depression and 27% reported feeling unsupported by the person they disclosed to. The largest gaps in HIV and ARV knowledge were among 98 (57%) that did not recognize that HIV increased the risk of cancer and among 57 (33%) participants that did not disagree with the statement that taking a double dose of ARV if they missed one. Moderate depression was significantly associated to poor HIV and ARV knowledge. Non-disclosure and being on ARVs for less than 6 months were associated with not achieving sustained viral suppression. Our findings highlight important HIV and ARV knowledge gaps of PLWH and a high burden of psychosocial problems, especially of depression, among PLWH in Lima, Peru. Increasing knowledge and addressing depression and disclosure could improve care of PLWH

8000 years of environmental evolution of barrier–lagoon systems emplaced in coastal embayments (NW Iberia)

The rocky and indented coast of NW Iberia is characterized by the presence of highly valuable and vulnerable, small and shallow barrier– lagoon systems structurally controlled. The case study was selected to analyse barrier–lagoon evolution based on detailed sedimentary architecture, chronology, geochemical and biological proxies. The main objective is to test the hypothesis of structural control and the significance at regional scale of any highenergy event recorded. This work is also aimed at identifying general patterns and conceptualizing the formation and evolution of this type of coastal systems. The results allowed us to establish a conceptual model of Holocene evolution that applies to rock-bounded barrier–lagoon systems. The initial stage (early Holocene) is characterized by freshwater peat sedimentation and ended by marine flooding. The timing of the marine flooding depends on the relation between the elevation of the basin and the relative mean sea-level position; the lower the topography, the earlier the marine inundation. Thus, the age of basin inundation ranged from 8 to 4 ka BP supporting significant structural differences. Once marine inundation occurred, all systems followed similar evolutionary patterns characterized by a phase of landward barrier migration and aeolian sedimentation towards the back-barrier (i.e. retrogradation) that extended circa 3.5 ka BP. The later phases of evolution are characterized by a general trend to the stabilization of the barriers and the infilling of the lagoons. This stabilization may be temporally interrupted by episodes of enhanced storminess or sediment scarcity. In this regard, washover deposits identified within the sedimentary architecture of the case study explored here suggest pervasive high-energy events coeval with some of the cooling events identified in the North Atlantic during the mid- to late Holocene

POLYBIUS2020, a cost-effective underwater autonomous video system to record fishing gear selectivity performance catching fish and marine litter

Underwater video cameras are a highly versatile survey solution for marine fisheries research. The POLYBIUS2020 is a system specially designed to be used as a tool for video recording inside towed fishing gears. Its design allows for rapid installation onboard commercial fishing vessels as well as for quick reconfiguration and battery replacement. The system is based on simple commercial components to ensure low costs and the opportunity of future studies using house technology. The field experiments carried out have shown the flexibility and ability of the system to obtain key information about fishing selectivity, flora and fauna characterization and marine litter presence

8000 years of environmental evolution of barrier–lagoon systems emplaced in coastal embayments (NW Iberia)

The rocky and indented coast of NW Iberia is characterized by the presence of highly valuable and vulnerable, small and shallow barrier– lagoon systems structurally controlled. The case study was selected to analyse barrier–lagoon evolution based on detailed sedimentary architecture, chronology, geochemical and biological proxies. The main objective is to test the hypothesis of structural control and the significance at regional scale of any highenergy event recorded. This work is also aimed at identifying general patterns and conceptualizing the formation and evolution of this type of coastal systems. The results allowed us to establish a conceptual model of Holocene evolution that applies to rock-bounded barrier–lagoon systems. The initial stage (early Holocene) is characterized by freshwater peat sedimentation and ended by marine flooding. The timing of the marine flooding depends on the relation between the elevation of the basin and the relative mean sea-level position; the lower the topography, the earlier the marine inundation. Thus, the age of basin inundation ranged from 8 to 4 ka BP supporting significant structural differences. Once marine inundation occurred, all systems followed similar evolutionary patterns characterized by a phase of landward barrier migration and aeolian sedimentation towards the back-barrier (i.e. retrogradation) that extended circa 3.5 ka BP. The later phases of evolution are characterized by a general trend to the stabilization of the barriers and the infilling of the lagoons. This stabilization may be temporally interrupted by episodes of enhanced storminess or sediment scarcity. In this regard, washover deposits identified within the sedimentary architecture of the case study explored here suggest pervasive high-energy events coeval with some of the cooling events identified in the North Atlantic during the mid- to late Holocene