Analysis of potential anti-aging beverage Pru, a traditional Cuban refreshment, by desorption electrospray ionization-mass spectrometry and FTICR tandem mass spectrometry.

Aging has been established as a major risk factor for prevalent diseases and hence, the development of anti-aging medicines is of great importance. Recently, herbal fermented beverages have emerged as a promising source of potential anti-aging drug. Pru, a traditional Cuban refreshment produced by decoction and fermentation of multispecies plants with sugar, has been consumed for many years and is claimed to have multiple medicinal properties.

Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation in recently admixed populations.

Background: Association studies in recently admixed populations are extremely useful to identify the genetic architecture of pigmentation, due to their high genotypic and phenotypic variation. However, to date only four Genome-Wide Association Studies (GWAS) have been carried out in these populations.

Results: We present a GWAS of skin pigmentation in an admixed sample from Cuba (N = 762).

Exome sequencing in large, multiplex bipolar disorder families from Cuba.

Bipolar disorder (BD) is a major psychiatric illness affecting around 1% of the global population. BD is characterized by recurrent manic and depressive episodes, and has an estimated heritability of around 70%. Research has identified the first BD susceptibility genes.

Exploring Cuba's population structure and demographic history using genome-wide data.

Cuba is the most populated country in the Caribbean and has a rich and heterogeneous genetic heritage. Here, we take advantage of dense genomic data from 860 Cuban individuals to reconstruct the genetic structure and ancestral origins of this population. We found distinct admixture patterns between and within the Cuban provinces.

Cuba: exploring the history of admixture and the genetic basis of pigmentation using autosomal and uniparental markers.

We carried out an admixture analysis of a sample comprising 1,019 individuals from all the provinces of Cuba. We used a panel of 128 autosomal Ancestry Informative Markers (AIMs) to estimate the admixture proportions. We also characterized a number of haplogroup diagnostic markers in the mtDNA and Y-chromosome in order to evaluate admixture using uniparental markers.

I. 'Street of twins': multiple births in Cuba II. The Cuban twin registry: an update / twin research reports: cord entanglement; heritability of clubfoot; school separation / twins and twin researchers in the news: reunited at seventy-eight; basketball duo dissolved; delivered holding hands; the better brew; award winners.

I was part of a people-to-people tour of Havana, Cuba during the first week in April 2014. Among the many highlights of that adventure were an informal meeting with Dr Beatriz Marcheco-Teruel, from Cuba's National Center for Medical Genetics, and a visit to the famous 'Street of Twins'. A fortuitous meeting with parents of twins in the fishing town of Jaimanitas was also an extraordinary event.

The Cuban Twin Registry: initial findings and perspectives.

The Cuban Twin Registry is a nation-wide, prospective, population-based twin registry comprising all zygosity types and ages. It was initiated in 2004 to study genetic and environmental contributions to complex diseases with high morbidity and mortality in the Cuban population. The database contains extensive information from 55,400 twin pairs enrolled in the period 2004-2006.

Attitudes and knowledge about genetic testing before and after finding the disease-causing mutation among individuals at high risk for familial, early-onset Alzheimer's disease.

This study was designed to investigate the influence of finding a disease-causing mutation for an early-onset form of Alzheimer's disease, with the intention of taking a presymptomatic genetic test. First-degree relatives of patients with Alzheimer's disease from a large Cuban family with a newly described mutation in presenilin 1 gene were interviewed before and after molecular studies. Significant differences were observed regarding the knowledge of the disease (p=0.

Angiotensin II type 2 receptor gene is not responsible for familial vesicoureteral reflux.

Purpose: The renin-angiotensin system has an important role in the development of the kidney and ureter. It has been reported that disruption of the angiotensin II type 2 receptor (AT2) gene leads to congenital anomalies of the kidney and ureter in mice, including vesicoureteral reflux. In humans a single base A to G transition at position -1332 in intron 1 (A-1332G) of the AT2 gene has been reported to occur significantly more often in patients with ureteropelvic junction obstruction and primary obstructive megaureter than in controls.

Reproductive behaviour of couples at risk for sickle cell disease in Cuba: a follow-up study.

Three hundred and forty-three Cuban women at risk of having children with sickle cell anaemia or sickle cell-haemoglobin C disease were interviewed 2-8 years after the index pregnancy (that in which their risk was detected). The aim was to collect information on their attitude towards prenatal diagnosis in subsequent pregnancies. Twenty-two per cent (75/343) had dissolved their marriage and 9 per cent of these (7/75) considered that their at-risk status had influenced the separation.

Results from a reference laboratory for prenatal diagnosis of sickle cell disorders in Cuba.

A nationwide programme for the prevention of sickle cell (SS and SC) disorders was initiated in Cuba in 1983. Couples at risk were identified by screening pregnant women and the partners of those who carry an abnormal haemoglobin, followed by genetic counselling and the offer of prenatal diagnosis. Prenatal diagnosis was performed in one laboratory, which had carried out 1068 prenatal tests for Hb SS and SC disorders by the end of 1992.

Cuban programme for prevention of sickle cell disease.

The percentage of carriers of the sickle cell gene in Cuba ranges from 3 to 7% in different regions. In 1983 the National Medical Genetics Centre initiated a programme for the control of sickle cell disease, which was started in Havana and later extended nationwide. The programme is based on mass education, screening and supportive genetic counselling, care of affected individuals, and availability of prenatal diagnosis.