Effects of nutraceuticals on sexual satisfaction and lower urinary tract symptoms in a cohort of young-old men.

The aim of this study was to evaluate the effects of nutraceuticals containing multiple supplemental facts (Virherbe®/Rekupros®) on sexual satisfaction and lower urinary tract symptoms (LUTS) in young-old men. In an open-label trial, 40 males (mean age 66 ± 13) with sexual disturbances and mild LUTS but without cognitive/motor impairment and clinical hypogonadism were enrolled. Sexual desire (SD; IIEF-SD domain) and satisfaction (Global Assessment Question; GAQ), the capacity to perform daily activities (evaluated by 6-min walking test [6MWT]), and International Prostate Symptoms Scores (IPSS) were evaluated before and after oral administration of 2 capsules/day of each supplement for 8 weeks. The difference from baseline for SD was +2.6 (p < .05) and -4.2 points for IPSS (p < .05), with significance in subscales of urinary streaming/nocturia (p < .01), respectively; 6MWT increased from 507 ± 44 versus 527 ± 58 meters (p < .001). GAQ scale-responses showed overall improvement in overall 75% population, with a significant improvement in QoL (p < .01). These changes returned to baseline at 1-month withdrawal follow-up. No adverse events were reported. These supplemental facts improved sexual desire, satisfaction with sex life, physical performance, and LUTS in young-old men, suggesting that they may be effective in patients in whom standard treatments are not suitable.

Alström syndrome: an ultra-rare monogenic disorder as a model for insulin resistance, type 2 diabetes mellitus and obesity.

BACKGROUND: Alström syndrome (ALMS) is a monogenic ultra-rare disorder with a prevalence of one per million inhabitants caused by pathogenic variants of ALMS1 gene. ALMS1 is located on chromosome 2p13, spans 23 exons and encodes a predicted 461.2-kDa protein of 4169 amino acids. The infantile cone-rod dystrophy with nystagmus and severe visual impairment is the earliest and most consistent clinical manifestation of ALMS. In addition, infantile transient cardiomyopathy, early childhood obesity with hyperphagia, deafness, insulin resistance (IR), type 2 diabetes mellitus (T2DM), systemic fibrosis and progressive renal or liver dysfunction are common findings. ALMS1 encodes a large ubiquitously expressed protein that is associated with the centrosome and the basal body of primary cilium. CURRENT RESEARCH: The localisation of ALMS1 to the ciliary basal body suggests its contribution to ciliogenesis and/or normal ciliary function, or centriolar stability. ALMS1 regulate glucose transport through the actin cytoskeleton, which plays an important role in insulin-stimulated GLUT4 transport. Both extreme IR and ß-cell failure are the two determinant factors responsible for the development of glucose metabolism alterations in ALMS. TREATMENT: Currently, there is no known cure for ALMS other than managing the underlying systemic diseases. When possible, individuals with ALMS and families should be referred to a centre of expertise and followed by a multidisciplinary team. Lifestyle modification, aerobic exercise and dietary induced weight loss are highly recommended as primary treatment for ALMS patients with T2DM and obesity. CONCLUSION: Managing a rare disease requires not only medical care but also a support network including patient associations.

Consensus clinical management guidelines for Alström syndrome.

Alström Syndrome (ALMS) is an ultra-rare multisystem genetic disorder caused by autosomal recessive variants in the ALMS1 gene, which is located on chromosome 2p13. ALMS is a multisystem, progressive disease characterised by visual disturbance, hearing impairment, cardiomyopathy, childhood obesity, extreme insulin resistance, accelerated non-alcoholic fatty liver disease (NAFLD), renal dysfunction, respiratory disease, endocrine and urologic disorders. Clinical symptoms first appear in infancy with great variability in age of onset and severity. ALMS has an estimated incidence of 1 case per 1,000,000 live births and ethnically or geographically isolated populations have a higher-than-average frequency. The rarity and complexity of the syndrome and the lack of expertise can lead to delayed diagnosis, misdiagnosis and inadequate care. Multidisciplinary and multiprofessional teams of experts are essential for the management of patients with ALMS, as early diagnosis and intervention can slow the progression of multi-organ dysfunctions and improve patient quality of life.These guidelines are intended to define standard of care for patients suspected or diagnosed with ALMS of any age. All information contained in this document has originated from a systematic review of the literature and the experiences of the authors in their care of patients with ALMS. The Appraisal of Guidelines for Research & Evaluation (AGREE II) system was adopted for the development of the guidelines and for defining the related levels of evidence and strengths of recommendations.These guidelines are addressed to: a) specialist centres, other hospital-based medical teams and staffs involved with the care of ALMS patients, b) family physicians and other primary caregivers and c) patients and their families.