Palliative and supportive care: At the frontier of medical omnipotence

Summary Cancer patients have physical, social, spiritual and emotional needs. They may suffer from severe physical symptoms, from social isolation and a sense of spiritual abandonment, and emotions such as sadness and anxiety, or feelings of deception, helplessness, anger and guilt. In some of them, the disease is rapidly progressive and they ultimately die. Their demanding care evokes intense feelings in health care providers, the more so since these incurable patients represent a challenge, which can be characterized as one of ‘medical onmipotence'. It may be assumed that the way health care providers cope with these circumstances profoundly influences the way these patients are cared for. Attitudes regarding the emerging heterogeneous movement of palliative and supportive care and its different models of implementation can be viewed from this vantage point. Here we look at these interrelations and discuss the potential pitfalls if they are ignored and remain unexamine

Ophtalmologie. Rétinopathie diabétique: nouvelles possibilités thérapeutiques [Diabetic retinopathy: new therapeutic possibilities].

La rétinopathie diabétique touche un nombre croissant de personnes, soit quatre millions en Europe, ce chiffre va probablement doubler d'ici 2030. Si l'on considère que 25-30% de ces patients sont atteints de rétinopathie diabétique, un dépistage et un traitement précoce permettent d'éviter les complications oculaires sévères telles que l'oedème maculaire cystoïde où la rétinopathie diabétique proliférative. Un résumé des dernières données de la littérature ophtalmologique est présenté en insistant sur le rôle de l'anti-VEGF (vascular endothelial growth factor) et des implants intravitréens de corticostéroïdes pour une pathologie oculaire récemment classée dans les pathologies inflammatoires. Diabetic retinopathy affects an increasing number of persons, about 4 millions in Europe, a number that will probably double until 2030. If we consider that 25-30% of patients are affected by diabetic retinopathy, an ophthalmologic screening and early therapy will allow a better visual prognosis and avoid severe ocular complications such as diabetic macular edema and proliferative diabetic retinopathy. A summary of current ophthalmologic literature was performed and was focused on the role of anti-VEGF (vascular endothelial growth factor) therapies and intraocular drug delivery of corticosteroids in a pathology that was recently classified in inflammatory pathologies

Hamstring Architectural and Functional Adaptations Following Long vs. Short Muscle Length Eccentric Training.

Most common preventive eccentric-based exercises, such as Nordic hamstring do not include any hip flexion. So, the elongation stress reached is lower than during the late swing phase of sprinting. The aim of this study was to assess the evolution of hamstring architectural (fascicle length and pennation angle) and functional (concentric and eccentric optimum angles and concentric and eccentric peak torques) parameters following a 3-week eccentric resistance program performed at long (LML) vs. short muscle length (SML). Both groups performed eight sessions of 3-5 × 8 slow maximal eccentric knee extensions on an isokinetic dynamometer: the SML group at 0° and the LML group at 80° of hip flexion. Architectural parameters were measured using ultrasound imaging and functional parameters using the isokinetic dynamometer. The fascicle length increased by 4.9% (p < 0.01, medium effect size) in the SML and by 9.3% (p < 0.001, large effect size) in the LML group. The pennation angle did not change (p = 0.83) in the SML and tended to decrease by 0.7° (p = 0.09, small effect size) in the LML group. The concentric optimum angle tended to decrease by 8.8° (p = 0.09, medium effect size) in the SML and by 17.3° (p < 0.01, large effect size) in the LML group. The eccentric optimum angle did not change (p = 0.19, small effect size) in the SML and tended to decrease by 10.7° (p = 0.06, medium effect size) in the LML group. The concentric peak torque did not change in the SML (p = 0.37) and the LML (p = 0.23) groups, whereas eccentric peak torque increased by 12.9% (p < 0.01, small effect size) and 17.9% (p < 0.001, small effect size) in the SML and the LML group, respectively. No group-by-time interaction was found for any parameters. A correlation was found between the training-induced change in fascicle length and the change in concentric optimum angle (r = -0.57, p < 0.01). These results suggest that performing eccentric exercises lead to several architectural and functional adaptations. However, further investigations are required to confirm the hypothesis that performing eccentric exercises at LML may lead to greater adaptations than a similar training performed at SML

Multimodale Bildgebung eines retinalen Astrozyten-Hamartoms assoziert mit angeborener Hypertrophie des retinalen Pigmentepithels [Multimodal Imaging of Retinal Astrocytic Hamartoma Associated with Congenital Hypertrophy of Retinal Pigment Epithelium]

Hamartoma is a nodular malformation, with a single or multiple malformations, it is a recognized prenatal developmental abnormality. This benign tumor lesion has the same histological components of normal parenchyma, but these components are arranged haphazardly which disrupts normal function. Hamartomas usually remain connected with the tissue of origin; as is the case with pulmonary hamartoma or the splenic hamartoma. The exact incidence of retinal astrocytic hamartoma (RAH) is not well known, but it is estimated at one case per 100 000 births per year [1]. The astrocytic hamartoma is a neuroglial tissue and produces astrocytes within the optic nerve [2], and consequently it often appears within papillary region

A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy.

GEMIN5 is a multifunctional RNA-binding protein required for the assembly of survival motor neurons. Several bi-allelic truncating and missense variants in this gene are reported to cause a neurodevelopmental disorder characterized by cerebellar atrophy, intellectual disability (ID), and motor dysfunction. Whole exome sequencing of a Pakistani consanguineous family with three brothers affected by ID, cerebral atrophy, mobility, and speech impairment revealed a novel homozygous 3bp-deletion NM_015465.5:c.3162_3164del that leads to the loss of NM_015465.5 (NP_056280.2):p. (Asp1054_Ala1055delinsGlu) amino acid in one of the α-helixes of the tetratricopeptide repeats of GEMIN5. In silico 3D representations of the GEMIN5 dimerization domain show that this variant likely affects the orientation of the downstream sidechains out of the helix axis, which would affect the packing with neighboring helices. The phenotype of all affected siblings overlaps well with previously reported patients, suggesting that NM_015465.5: c.3162_3164del (NP_056280.2):p. (Asp1054_Ala1055delinsGlu) is a novel GEMIN5 pathogenic variant. Overall, our data expands the molecular and clinical phenotype of the recently described neurodevelopmental disorder with cerebellar atrophy and motor dysfunction (NEDCAM) syndrome