Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report

Background We report the ophthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DGS), cataract and optic nerve head drusen (ONHD). Case presentation A 26-year-old white woman, born at term by natural delivery presented with a post-natal diagnosis of GSD Ia. Genetic testing by array-comparative genomic hybridization (CGH) for DGS was required because of her low levels of serum calcium. The patient has been followed from birth, attending the day-hospital every six months at the San Paolo Hospital, Milan, outpatient clinic for metabolic diseases and previously at another eye center. During the last day-hospital visit, a complete eye examination showed ONHD and cataract in both eyes. Next Generation Sequencing (NGS) was subsequently done to check for any association between the eye problems and metabolic aspects. Conclusions This is the first description of ocular changes in a patient with GSD Ia and DGS. Mutations explaining GSD Ia and DGS were found but no specific causative mutation for cataract and ONHD. The metabolic etiology of her lens changes is known, whereas the pathogenesis of ONHD is not clear. Although the presence of cataract and ONHD could be a coincidence; the case reported could suggest that hypocalcemia due to DGS could be the common biochemical pathway

Perceived Impact of the COVID-19 Lockdown on the Family Context of Foster and Non-Foster Families

The COVID-19 pandemic and the resulting lockdown have had a far-reaching impact across all levels of society. In Spain,severe restrictions were placed on people’s mobility, and leaving the home was only possible under special circumstances.This study analyzes the impact of lockdown on the family context of foster and non-foster families, focusing particularly ontheir levels of cohesion, adaptability, and perceived stress. It also examines a series of variables that may have influencedfoster families’ perceptions of their family context during lockdown. Data were gathered through an online survey that wascompleted by 347 individuals corresponding to 100 foster families and 247 non-foster families from different regions ofSpain. Analyses were descriptive and exploratory in nature. The results appear to suggest that lockdown has had a greaterimpact on the family context of non-foster families. With respect to foster families’ experiences of lockdown, variables suchas loss of employment and having a child with special educational needs would seem to be important. For both types offamilies, lockdown has provided an opportunity to improve certain aspects of their family context. Given that furtherlockdowns of some degree may be necessary in the future, it is important to ensure that families have access to thepsychoeducational resources they need to maintain, as far as possible, a positive family context

Direct and indirect use of water in a dairy system

La gestión de los recursos hídricos se ha convertido en un tema de suma importancia a nivel mundial. El objetivo del trabajo fue evaluar el uso del agua en un sistema de producción de leche Se evaluó el uso directo e indirecto del agua en un sistema de base pastoril (40%), con una carga de 2 VT/ha, contemplando el alimento importado al sistema versus el suministrado a los animales. El periodo evaluado fue desde junio de 2011 hasta julio de 2012. El agua directa es aquella usada en las tareas de higiene de la máquina de ordeño (MqO) y del equipo de frío (EF), en la placa de refrescado (PR) y como bebida animal. Los consumos de agua para la limpieza de la instalación de ordeño, corrales anexos y el agua de bebida se obtuvieron por caudalímetro y por fórmula para: MqO, litros/día (l/d)=27,75*número de unidades de ordeño+134,4 y EF, l/d=0,0403*capacidad tanque (l)+11,153. Para la PR se utilizó un valor promedio de 2,75 l agua/l leche a refrescar. El agua indirecta es la necesaria para producir los alimentos importados (balanceado, grano maíz, semilla algodón y pellet soja) y propios (pasturas y cultivos anuales en secano). Para su cálculo se utilizaron los programas CLIMWAT 2.0 y CROPWAT de la FAO, adaptando los ciclos de los cultivos con datos del sistema y regionales. En el Cuadro se observa que el consumo de agua total en el sistema considerando el alimento suministrado fue de 951,2 y con alimento importado fue 1.151,5 l/l (21,1% mayor). El consumo directo de agua solo representó menos del 1% de la cantidad total utilizada en el sistema, siendo el agua de bebida y la de PR las principales contribuyentes. El consumo indirecto representó más del 99%, compuesto mayoritariamente por el agua utilizada por las pasturas y por los alimentos importados. El análisis más detallado de esta fracción permitiría detectar las variables de mayor peso en el uso del agua, mejorando el manejo de este recurso en un sistema de producción lechero.Fil: Tieri, M. P.. Instituto Nacional de Tecnología Agropecuaria. Centro Regional Santa Fe. Estación Experimental Agropecuaria, Rafaela; Argentina;Fil: Pece, Marta Graciela del Valle. Instituto Nacional de Tecnología Agropecuaria. Centro Regional Santa Fe. Estación Experimental Agropecuaria, Rafaela; Argentina;Fil: Charlon, Veronica. Instituto Nacional de Tecnología Agropecuaria. Centro Regional Santa Fe. Estación Experimental Agropecuaria, Rafaela; Argentina;Fil: Comerón, E.. Instituto Nacional de Tecnología Agropecuaria. Centro Regional Santa Fe. Estación Experimental Agropecuaria, Rafaela; Argentina;Fil: Civit, Bárbara María. Universidad Tecnológica Nacional. Facultad Regional de Mendoza; Argentina; Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico - CONICET - Mendoza. Instituto de Ciencias Humanas, Sociales y Ambientales; Argentina

Liposomal amphotericin B for visceral leishmaniasis in human immunodeficiency virus-coinfected patients: 2-year treatment outcomes in Bihar, India

Reports on treatment outcomes of visceral leishmaniasis (VL)-human immunodeficiency virus (HIV) coinfection in India are lacking. To our knowledge, none have studied the efficacy of liposomal amphotericin B in VL-HIV coinfection. We report the 2-year treatment outcomes of VL-HIV-coinfected patients treated with liposomal amphotericin B followed by combination antiretroviral treatment (cART) in Bihar, India

Influence of ursodeoxycholate-enriched diet on liver tumor growth in HBV transgenic mice.

Hepatitis B virus (HBV) transgenic mice (official designation, Tg [Alb-1 HBV] Bri 44) invariably develop macroscopically evident tumors within the 20th month of life. Sustained proliferative activity seems to play an important role in the development of these lesions. We previously showed that ursodeoxycholate (UDC) stimulates hepatocyte proliferation in various experimental settings. Herein, we tested the assumption that biological factors able to further increase liver cell proliferation, such as UDC, could accelerate tumor development in this animal model. For this study, 22 eight-week-old male transgenic mice were divided into 2 groups; 11 animals received a standard diet, and 11 received a UDC-enriched diet. The 2 groups were further divided into 2 subgroups of 5 and 6 animals each and were sacrificed at 3 and 15 months of age, respectively. These different times were chosen to exclude diet-related toxicity (in 3-month-old mice) and evaluate tumor growth (in 15-month-old mice). In addition, hepatocyte proliferation was assessed in all animals. In 3-month-old mice receiving UDC, cholestatic and cytolytic indices as well as liver histology were comparable to those in controls. At 15 months, all UDC-treated mice showed large multinodular tumors whereas only 33% of controls developed smaller uninodular neoplasms. Hepatocyte proliferation was increased in all animals receiving UDC compared with controls. In conclusion, the increase in serum UDC (undetectable in mice fed a standard diet), in the absence of any toxic effect on the liver, suggests the involvement of this bile salt in the stimulation of hepatocyte proliferation and tumor growth