Occult macular dystrophy in an Italian family carrying a mutation in the RP1L1 gene.

Occult macular dystrophy (OMD) is an inherited macular disease characterized by progressive visual decline with the absence of visible retinal abnormalities. Typical alterations of the retinal structure are detectable by spectral domain optical coherence tomography (SD\u2011OCT). Mutations in the RP1L1 gene have been identified to be responsible for the disease in Asian subjects. The present study assessed the role of mutations in the RP1L1 gene in an Italian family with OMD. One patient with OMD and five related subjects (two male offspring affected by progressive visual decline and three asymptomatic siblings of the patient) were subjected to complete ophthalmological examination. SD\u2011OCT was also performed. All subjects were screened for OMD\u2011associated genetic mutations in the RP1L1 gene. The OMD patient and the two symptomatic offspring presented with a reduced best\u2011corrected visual acuity. Although no fundus abnormalities were observed, SD\u2011OCT examination showed that the external limiting membrane and the inner segment/outer segment band were not clearly identifiable and a focal disruption of the photoreceptor layer was present. The degree of photoreceptor alterations was correlated with the severity of visual impairment. Clinical and tomographic results in the three asymptomatic relatives were normal. A p.Arg45Trp mutation in the RP1L1 gene was identified in the OMD patient, in the two symptomatic offspring and also in two of the asymptomatic siblings of the patient. The identification of RP1L1 mutations in subjects with OMD may improve the accuracy of diagnosis of this rare condition and may aid in enhancing the efficacy of genetic counseling

Long-term rearrangement of retinal structures in a novel mutation of X-linked retinoschisis

The aim of the present study was to report a novel mutation in the retinoschisin 1 (RS1) gene in a Caucasian family affected by X-linked juvenile retinoschisis (XLRS) and to describe the long-term modification of retinal structure. Two brothers with an early onset maculopathy were diagnosed with XLRS. Fundus photography, fluorescein angiography, spectral domain optical coherence tomography and electroretinogram analyses were performed. Their sister was also examined. All subjects were screened for mutations in the RS1 gene. XLRS patients demonstrated a marked reduction of best-corrected visual acuity. SD-OCT scans reported a cystic degeneration primarily involving the inner nuclear layer, though some cysts were detected in the outer plexiform layer and in the ganglion cell layer. During the ten-year follow-up, a progressive retinal thickening and coalescence of the cysts was observed. Genetic testing revealed a novel mutation (p.Ile212Asn) in the RS1 gene in both XLRS patients, whereas their sister was not a genetic carrier. Several mutations of the RS1 gene were recognized to be responsible for XLRS. Although the correspondence between genotype and phenotype is still under debate, is reasonable that siblings affected by XLRS could share other genetic and/or epigenetic factors capable to influence clinical course of the disease

AGRICULTURAL COOPERATION AND PRODUCE MARKETING IN SOUTHWEST VIRGINIA

Growers and community leaders have expressed interest in establishing a horticultural shipping-point market in Southwest Virginia. This paper reports on a study that assessed whether horticultural production would be profitable in the region and, if so, the physical and organizational requirements for a successful shipping-point market. It appears that tomatoes, peppers, and pumpkins can be produced and marketed profitably to large-volume wholesale buyers if growers meet the exacting requirements of the retailers. A cooperative association is the organizational structure with the greatest chance of success. At the conclusion of this study, a shipping-point market in the recommended form was established in Southwest Virginia.Agribusiness, Marketing,

Non\u2011syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene

Autosomal dominant optic atrophy (DOA) is the most frequent form of hereditary optic atrophy, a disease presenting with considerable inter- and intra-familial clinical variability. Although a number of mutations in different genes are now known to cause DOA, many cases remain undiagnosed. In an attempt to identify the underlying genetic defect, whole exome sequencing was performed in a 19-year-old male that had been affected by isolated DOA since childhood. The exome sequencing revealed a pathogenic mutation (p.R468C, c.1402C>T) in the AFG3 like matrix AAA peptidase subunit 2 (AFG3L2) gene, a gene known to be associated with spinocerebellar ataxia. The patient did not show any signs other than DOA. Thus, the result demonstrates the possibility that mutations in the AFG3L2 gene may be a cause of isolated autosomal DOA

Parenting Practices In Adolescence And Their Influence On Subsequent Eating Disorders

Eating disorders in adolescents have increased in recent years. Risk factors for eating disorders come from many domains of life, though there seems to be a gap in knowledge on the effects of family environment, more specifically parenting practices, and their influence on eating disorder pathology. This paper seeks to investigate parenting practices as risk factors for eating disorders, including Anorexia Nervosa (AN) and Bulimia Nervosa (BN), in adolescents. Given increased prevalence, there is a need for updated conversations on risk factors and influences on eating disorders such as Anorexia Nervosa and Bulimia Nervosa to contribute to new prevention and intervention efforts. A secondary data analysis was conducted using data from the National Longitudinal Survey’s NLS97 dataset. A multinomial logistic regression was conducted using MPlus 8.7 to determine whether presence of certain parenting practices is associated with eating disorders in adolescents. Three groups were compared: those who selected they had a mental health condition, those who selected “eating disorder” from the list of conditions, and those of the “normative” group of those who did not select that they had a mental health condition. The regression was broken down into three models: those with variables related to the mother, those with variables related to the father, and one full model. Significant results in all three models demonstrated that females had a higher odds of being in the eating disorder category compared to the normative category and that Black participants had a higher odds of being in the normative category than White participants. Non-significant results showed a potential pattern of those with parents of the permissive parenting style may have higher odds of being in the normative category. Main limitations of this study include small sample size and vague and exclusionary questionnaire material. Future research should further investigate patterns of demandingness and responsiveness within parenting styles and how it could be associated with a subsequent eating disorder diagnosis

Parenting Practices In Adolescence And Their Influence On Subsequent Eating Disorders

Eating disorders in adolescents have increased in recent years. Risk factors for eating disorders come from many domains of life, though there seems to be a gap in knowledge on the effects of family environment, more specifically parenting practices, and their influence on eating disorder pathology. This paper seeks to investigate parenting practices as risk factors for eating disorders, including Anorexia Nervosa (AN) and Bulimia Nervosa (BN), in adolescents. Given increased prevalence, there is a need for updated conversations on risk factors and influences on eating disorders such as Anorexia Nervosa and Bulimia Nervosa to contribute to new prevention and intervention efforts. A secondary data analysis was conducted using data from the National Longitudinal Survey’s NLS97 dataset. A multinomial logistic regression was conducted using MPlus 8.7 to determine whether presence of certain parenting practices is associated with eating disorders in adolescents. Three groups were compared: those who selected they had a mental health condition, those who selected “eating disorder” from the list of conditions, and those of the “normative” group of those who did not select that they had a mental health condition. The regression was broken down into three models: those with variables related to the mother, those with variables related to the father, and one full model. Significant results in all three models demonstrated that females had a higher odds of being in the eating disorder category compared to the normative category and that Black participants had a higher odds of being in the normative category than White participants. Non-significant results showed a potential pattern of those with parents of the permissive parenting style may have higher odds of being in the normative category. Main limitations of this study include small sample size and vague and exclusionary questionnaire material. Future research should further investigate patterns of demandingness and responsiveness within parenting styles and how it could be associated with a subsequent eating disorder diagnosis