Reconstructing an African haploid genome from the 18th century.

A genome is a mosaic of chromosome fragments from ancestors who existed some arbitrary number of generations earlier. Here, we reconstruct the genome of Hans Jonatan (HJ), born in the Caribbean in 1784 to an enslaved African mother and European father. HJ migrated to Iceland in 1802, married and had two children.

Dispersals and genetic adaptation of Bantu-speaking populations in Africa and North America.

Bantu languages are spoken by about 310 million Africans, yet the genetic history of Bantu-speaking populations remains largely unexplored. We generated genomic data for 1318 individuals from 35 populations in western central Africa, where Bantu languages originated. We found that early Bantu speakers first moved southward, through the equatorial rainforest, before spreading toward eastern and southern Africa.

Disease impact on general well-being and therapeutic expectations of European Type II and Type III spinal muscular atrophy patients.

Spinal muscular atrophy (SMA) is a neurodegenerative disorder showing a broad clinical spectrum and no cure to date. To design and select evaluation criteria for the potential assessment of drugs currently being developed, the patient's perspective is critical. A survey, aiming to obtain a view on the current clinical state of European Type II and Type III SMA patients, the impact of this situation on their quality of life and their expectations regarding clinical development, was carried out by SMA-Europe member organizations in July 2015.

Genetic population study of Y-chromosome markers in Benin and Ivory Coast ethnic groups.

Ninety-six single nucleotide polymorphisms (SNPs) and seventeen short tandem repeat (STRs) were investigated on the Y-chromosome of 288 unrelated healthy individuals from populations in Benin (Bariba, Yoruba, and Fon) and the Ivory Coast (Ahizi and Yacouba). We performed a multidimensional scaling analysis based on FST and RST genetic distances using a large extensive database of sub-Saharan African populations. There is more genetic homogeneity in Ivory Coast populations compared with populations from Benin.

Future trends in cystic fibrosis demography in 34 European countries.

Median survival has increased in people with cystic fibrosis (CF) during the past six decades, which has led to an increased number of adults with CF. The future impact of changes in CF demographics has not been evaluated. The aim of this study was to estimate the number of children and adults with CF in 34 European countries by 2025.

Comparing Mycobacterium massiliense and Mycobacterium abscessus lung infections in cystic fibrosis patients.

Background: Mycobacterium massiliense is closely related to Mycobacterium abscessus and is also a frequent cause of mycobacterial lung disease in patients with cystic fibrosis (CF). There has been no previous investigation of possible differences between M. massiliense and M.

CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders.

Background: The high frequency of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene mutation p.Arg117His in patients with congenital bilateral absence of the vas deferens (CBAVD) and in newborns screened for CF has created a dilemma.

Methods: Phenotypic and genotypic data were retrospectively collected in 179 non-newborn French individuals carrying p.

Inhaled therapies, azithromycin and Mycobacterium abscessus in cystic fibrosis patients.

Cystic fibrosis (CF) patients are at particularly high risk of developing lung disease caused by Mycobacterium abscessus complex (MABSC). Over the last 10 years, changes in CF treatment, with increasing use of inhaled therapies and low-dose azithromycin, have been accompanied by an increase in the prevalence of MABSC infections in CF patients. There is therefore some concern about the role of new CF treatments in the emergence of MABSC infections.

Mycobacterium avium and Mycobacterium abscessus complex target distinct cystic fibrosis patient subpopulations.

Background: Clinical observations suggest that Mycobacterium avium complex (MAC) and Mycobacterium abscessus complex (MABSC) may affect cystic fibrosis (CF) patients with different characteristics and risk factors, but this has never been demonstrated within a single prospective cohort.

Methods: We studied 50 MABSC-positive and 23 MAC-positive patients from a French prevalence study of non-tuberculous mycobacteria (NTM) in CF. Risk factors specifically associated with MABSC and MAC were analyzed by nested case-control studies, with two NTM-negative controls matched by age, sex and center for each case.

Growth during puberty in cystic fibrosis: a retrospective evaluation of a French cohort.

Objectives: To assess the longitudinal growth pattern in a large French cohort of patients with cystic fibrosis (CF), to determine to what extent puberty contributed to final height and to explore a potential relationship between growth, nutritional status and respiratory function.

Methods: Retrospective data were drawn from the French CF registry from 1999 to 2004. Height, weight and forced expiratory volume in 1 s (FEV(1)) were recorded annually.

Multicenter study of prevalence of nontuberculous mycobacteria in patients with cystic fibrosis in france.

We performed a multicenter prevalence study of nontuberculous mycobacteria (NTM) involving 1,582 patients (mean age, 18.9 years; male/female ratio, 1.06) with cystic fibrosis in France.

Long-term noninvasive ventilation in patients with cystic fibrosis.

Background: The benefits of long-termnoninvasive positive pressure ventilation (NPPV) have not yet been evaluated in patients with cystic fibrosis (CF).

Objectives: To evaluate the effect of 1 year of NPPV on lung function in patients with advanced CF.

Methods: Data were obtained from the French CF Registry.

Cystic fibrosis mortality trends in France.

Background: In 1992 France set up a national cystic fibrosis observatory (Observatoire national de la mucoviscidose, ONM) to monitor the state of health of patients on an annual basis. Using the ONM data, this study estimates the main indicators for life expectancy and assesses the total number of cystic fibrosis patients.

Methods: The data for the years 1994 to 2003 are divided into 3-year periods.

Paternity in men with cystic fibrosis: a retrospective survey in France.

Background: Because more patients reach adulthood, new questions as "what about having a child and/or paternity responsibility?" arose.

Method: We performed a retrospective investigation based on the French CF registry. The context of the paternity and the health status of fathers were recorded.

Cystic fibrosis at the Reunion Island (France): spectrum of mutations and genotype-phenotype for the Y122X mutation.

Background: The Reunion Island is a French administrative department located in the Indian Ocean between the islands of Madagascar and Mauritius. Its population is known to be at a high risk of cystic fibrosis (CF).

Methods: Data concerning all CF patients born at the Reunion Island was extracted from the French CF Registry.

Reproductive attitudes of couples having a child with cystic fibrosis in Brittany (France).

Cystic fibrosis (CF) has an incidence of one in 2,636 livebirths and a carrier rate of one in 26 inhabitants in Brittany. One objective of a major enquiry among parents having a CF child as well as CF adolescents and adults was to evaluate the reproductive behavior of 124 couples attending a CF care center. Knowledge of recurrence risk resulted in deciding against further progeny or in reducing the number of children (average number of children: 1.

Spatial and temporal distribution of cystic fibrosis and of its mutations in Brittany, France: a retrospective study from 1960.

Cystic fibrosis (CF) is the most common severe inherited disorder that affects children in Caucasian populations. The aim of this study was to define the spatial and temporal distribution of CF and its mutations in Brittany (western France) where the frequency of the disease is high. We retrospectively registered all CF patients born in Brittany since 1960 by cross-checking various data sources (e.

Cystic fibrosis and pregnancy. Report from French data (1980-1999).

Objective: To study the consequences of pregnancy on women affected by cystic fibrosis and to clarify the impact of the disease on maternal and newborn health.

Design: Retrospective study.

Setting: Pregnancy survey from the French Cystic Fibrosis Registry.