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Diabetic retinopathy is a leading cause of visual morbidity worldwide. Fundus autofluorescence is a rapid, non-invasive imaging modality that has gained increased popularity in recent years in the multimodal evaluation of diabetic retinopathy and, in particular, of diabetic macular oedema. Acquired using either a fundus camera or the confocal scanning laser ophthalmoscope, short-wavelength and near-infrared autofluorescence are the most used techniques in diabetic retinopathy. In diabetic macular oedema, short-wavelength autofluorescence, in its cystoid pattern, is useful for detecting cystoid macular oedema. Increased spot hyperautofluorescence in short-wavelength and granular changes in near-infrared autofluorescence correlate well with other imaging findings, indicating photoreceptor and retinal pigment epithelium damage and being associated with decreased visual acuity. While also being a marker of oxidative stress, increased short-wavelength autofluorescence in the setting of diabetic macular oedema appears to be a prognostic factor for poor visual outcome, even after the resolution of the intraretinal fluid. Autofluorescence also helps in the assessment of diabetic retinal pigment epitheliopathy and choroidopathy. Fundus autofluorescence is an evolving technology that will assist in gaining further insight into the pathophysiology of diabetic retinopathy and allow for a more comprehensive evaluation of these patients. [ABSTRACT FROM AUTHOR]

Genetic epilepsy with febrile seizures plus (GEFS+) is characterized by a group of genetic epilepsies associated predominately with an autosomal dominant pattern, but also with de novo and autosomal-recessive inheritance, these last two found in a small number of cases. It was believed that GEFS+ is associated only with generalized seizures, but now the term “genetic epilepsy” is preferred because it has been demonstrated that GEFS+ is associated with both generalized and focal seizures. The “GEFS+ family” was defined as a family with more than two individuals with GEFS+ phenotypes, including at least one with febrile seizure or febrile seizure plus. The GEFS+ spectrum includes febrile seizures (FS), febrile seizures plus (FS+), myoclonic seizures, myoclonic- atonic seizures, absences seizures, focal or generalized seizures. The genetic mutations responsible for inhibitor- excitatory imbalance in neurons network were found in sodium voltage-gated channel alpha subunit 1 (SCN1A), sodium voltage-gated channel beta subunit 1 (SCN1B), sodium voltage-gated channel alpha subunit 2 (SCN2A), sodium voltage-gated channel alpha subunit 9 (SCN9A), gamma-aminobutyric acid type A receptor subunit gamma 2 (GABRG2), which are the main gene in GEFS+ genotype. [ABSTRACT FROM AUTHOR]

The existence of heredity is so implicit that it is often difficult to imagine a time when we did not have any knowledge of it. The rationale of investigating the acquisition and content of genetic concepts is complex. In addition to theoretical implications, the practical applications of such studies in genetic counselling are essential. The main objective of our research was to explore children's perception of heredity. We were particularly interested in seeing how children understand heredity and what their theories of various genetic mechanisms are. Data was gathered by conducting using semi-structured interviews with 20 children aged from 11 to 13 years old. The interview was based on 17 questions aimed at exploring their understanding and explanations of heredity. Responses to each question were later on analyzed using thematic analysis. Implications for genetic counselling are discussed. [ABSTRACT FROM AUTHOR]