Aortopulmonary window and double aortic arch. A rare association

We report the case of a 27-year-old male patient with dyspnea on physical exertion. Clinical assessment and various tests led to the diagnosis of aortopulmonary window and double aortic arch. According to a literature search, this may be the first report on such association.

Tetralogy of Fallot and hypertrophic cardiomyopathy: a rare association

Tetralogy of Fallot is known as the most common cyanotic congenital heart disease and has a prevalence of 10% of all congenital heart diseases. Although many other heart anomalies may coexist, the association of tetralogy of Fallot and hypertrophic cardiomyopathy is extremely rare. We report this association in a 15-month-old female, cyanotic since birth, in her first hospital admission for diagnosis and treatment of recurring cyanotic crises. In addition, a review of the literature and of the problems related to the treatment is provided.

Flora Americae Septentrionalis; or, A systematic arrangement and description of the plants of North America. Containing, besides what have been described by preceding authors, many new and rare species, collected during twelve years travels and residence in that country,

v.1 (1814)

Flora Americae Septentrionalis; or, A systematic arrangement and description of the plants of North America. Containing, besides what have been described by preceding authors, many new and rare species, collected during twelve years travels and residence in that country,

v.2 (1814)

C allele of the IL-1B-511 SNP is associated with higher risk for Gastric Cancer and its premalignant lesion : a prospective case-control study in Peru

Magdeburg, Univ., Medizin. Fakultät, Diss., 2008

Rare fishes of the deep-sea genus Halieutopsis : a review with descriptions of four new species (Lophiiformes; Ogcocephalidae) : a contribution in celebration of the distinguished scholarship of Robert F. Inger on the occasion of his sixty-fifth birthday /

n.s. no.44(1988)

Some rare or little-known Mexican coral snakes.

v.39:no.19(1958)

New or rare frogs from the Coastal Ranges of Brazil: eleutherodactylus venancioi n.sp., E. hoehnei n.sp. Holoaden bradei n.sp. e H. lüderwaldti Mir. Rib., 1920

Field-work in the sierras near the sea-board of south-eastern Brazil continues to yield new or rare frogs. Four more of these forms are presented here. Two of them, both new, are put into the genus Eleutherodactylus, to which they belong by their general habitat, morphology, and also by the osteological characters. They differs from the known regional species of this genus only by the wider and shorter disks of some of the digits and the more lanceolate build. The other two species belong to the very little known genus Holoaden, established by MIRANDA RIBEIRO in 1920. One of them is his type-species, H. lüderwaldti, which continues to be very rare. The other, H. bradei, is new. It seems endemic to the Upper Itatiaia and is very plentiful there.

Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity.

The limited ability of common variants to account for the genetic contribution to complex disease has prompted searches for rare variants of large effect, to partly explain the 'missing heritability'. Analyses of genome-wide genotyping data have identified genomic structural variants (GSVs) as a source of such rare causal variants. Recent studies have reported multiple GSV loci associated with risk of obesity. We attempted to replicate these associations by similar analysis of two familial-obesity case-control cohorts and a population cohort, and detected GSVs at 11 out of 18 loci, at frequencies similar to those previously reported. Based on their reported frequencies and effect sizes (OR≥25), we had sufficient statistical power to detect the large majority (80%) of genuine associations at these loci. However, only one obesity association was replicated. Deletion of a 220 kb region on chromosome 16p11.2 has a carrier population frequency of 2×10(-4) (95% confidence interval [9.6×10(-5)-3.1×10(-4)]); accounts overall for 0.5% [0.19%-0.82%] of severe childhood obesity cases (P = 3.8×10(-10); odds ratio = 25.0 [9.9-60.6]); and results in a mean body mass index (BMI) increase of 5.8 kg.m(-2) [1.8-10.3] in adults from the general population. We also attempted replication using BMI as a quantitative trait in our population cohort; associations with BMI at or near nominal significance were detected at two further loci near KIF2B and within FOXP2, but these did not survive correction for multiple testing. These findings emphasise several issues of importance when conducting rare GSV association, including the need for careful cohort selection and replication strategy, accurate GSV identification, and appropriate correction for multiple testing and/or control of false discovery rate. Moreover, they highlight the potential difficulty in replicating rare CNV associations across different populations. Nevertheless, we show that such studies are potentially valuable for the identification of variants making an appreciable contribution to complex disease.

Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe.

The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000-2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the European Surveillance of Congenital Anomalies database were analysed on all the cases from 16 population-based registries in 11 European countries diagnosed prenatally or before 1 year of age, and delivered between 2000 and 2006. Cases were all unbalanced chromosome abnormalities and included live births, fetal deaths from 20 weeks gestation and terminations of pregnancy for fetal anomaly. There were 10,323 cases with a chromosome abnormality, giving a total birth prevalence rate of 43.8/10,000 births. Of these, 7335 cases had trisomy 21,18 or 13, giving individual prevalence rates of 23.0, 5.9 and 2.3/10,000 births, respectively (53, 13 and 5% of all reported chromosome errors, respectively). In all, 473 cases (5%) had a sex chromosome trisomy, and 778 (8%) had 45,X, giving prevalence rates of 2.0 and 3.3/10,000 births, respectively. There were 1,737 RCA cases (17%), giving a prevalence of 7.4/10,000 births. These included triploidy, other trisomies, marker chromosomes, unbalanced translocations, deletions and duplications. There was a wide variation between the registers in both the overall prenatal diagnosis rate of RCA, an average of 65% (range 5-92%) and the prevalence of RCA (range 2.4-12.9/10,000 births). In all, 49% were liveborn. The data provide the prevalence of families currently requiring specialised genetic counselling services in the perinatal period for these conditions and, for some, long-term care.