Variant-to-function mapping of late-onset Alzheimer's disease GWAS signals in human microglial cell models implicates at the locus.

Late-onset Alzheimer's disease (LOAD) research has principally focused on neurons over the years due to their known role in the production of amyloid beta plaques and neurofibrillary tangles. In contrast, recent genomic studies of LOAD have implicated microglia as culprits of the prolonged inflammation exacerbating the neurodegeneration observed in patient brains. Indeed, recent LOAD genome-wide association studies (GWAS) have reported multiple loci near genes related to microglial function, including , , and .

Patient-reported outcome survey of user-experiences in the spinal cord injured-community with MPPT for treating wounds and pressure injuries and for controlling soft tissue infection caused by osteomyelitis.

Background: People with spinal cord injury (SCI) are at high risk of developing pressure injuries. Reports in the SCI-community had indicated that a new class of wound treatment, MPPT (micropore-particle-technology), was effective in treating pressure injuries. The British Spinal Injuries Association therefore conducted a survey among MPPT-users to learn from their experiences.

Time trade-off study to establish utility decrements in individuals with a spinal cord injury who perform intermittent catheterization.

Aims: To generate utility decrements for three attributes associated with catheterization for individuals with a spinal cord injury (SCI): the process of catheterization, the physical impact of urinary tract infections (UTIs) and worry associated with hospitalization.

Materials And Methods: Health state vignettes comprising various levels of the three attributes were developed. Two cohorts of respondents, corresponding to people with SCIs and a sample broadly representative of the UK population, were presented with nine vignettes (three vignettes for the mild, moderate and severe health states in addition to a random set of six vignettes).

Ecosystem properties of semiarid savanna grassland in West Africa and its relationship with environmental variability.

The Dahra field site in Senegal, West Africa, was established in 2002 to monitor ecosystem properties of semiarid savanna grassland and their responses to climatic and environmental change. This article describes the environment and the ecosystem properties of the site using a unique set of in situ data. The studied variables include hydroclimatic variables, species composition, albedo, normalized difference vegetation index (NDVI), hyperspectral characteristics (350-1800 nm), surface reflectance anisotropy, brightness temperature, fraction of absorbed photosynthetic active radiation (FAPAR), biomass, vegetation water content, and land-atmosphere exchanges of carbon (NEE) and energy.

Arrhythmogenic consequences of action potential duration gradients in the atria.

Background: Atrial action potential duration (APD) has been shown to decrease with increasing distance from the sinoatrial node in several species, including humans. This gradient has been postulated to be cardioprotective by reducing repolarization gradients.

Objectives: This study tests the effect of the APD gradient on reentry initiation and characteristics.

Action potential duration gradient protects the right atrium from fibrillating.

Atrial fibrillation (AF) is the most common cardiac arrhythmia. It is characterized by rapid and disorganized electrical activity in the atria. Atrial arrhythmias can be triggered from an ectopic focus, i.

A balanced autosomal translocation (3;9) associated with primary hypogonadism and dorsal spine stenosis.

A man with a balanced translocation between chromosomes 3 and 9 associated with primary hypogonadism and dorsal spine stenosis is reported. The possible significance of this chromosomal abnormality is discussed.

Prenatal detection of monosomy 18p and trisomy 18q mosaicism with unexpected fetal phenotype.

A mosaic karyotype 46,XX,del(18)(p11)/46,XX,-18,+?i(18q) was found in cultured amniotic cells. Fetal blood sampling confirmed the presence of both cell lines. The pregnancy was terminated and the two cell lines were demonstrated in varying proportions in the fetal tissues.

Further examples of trisomy-20 mosaicism in amniotic cell cultures.

Amniotic fluid cultures from two patients showed trisomy-20 mosaicism. No trisomy-20 cells were found in a normal full term infant and in multiple tissue biopsies and fetal blood from a fetus after a termination of pregnancy. No definitive advice is yet possible for parents where trisomy-20 amniotic cell mosaicism is detected.

Prenatal diagnosis and outcome of pregnancy in 2036 women investigated by amniocentesis.

The report presents the indications for prenatal diagnosis, the results from amniocentesis and details of outcome of pregnancy in 2036 women. Aneuploidy was found in 26 fetuses (1.3%) including 16 with trisomy 21 and 9 sex chromosome abnormalities.

A case of a paracentric inversion inv(7)(q11q22). Prenatal detection and counselling.

A paracentric inversion in the long arm of a number 7 chromosome was detected in an amniotic cell culture from a 41 year old woman, screened because of maternal age. The karyotype was 46, XX, inv(7) (q11q22). Her husband carried an identical inversion.

A diagnostic survey of infants referred for chromosome analysis in the neonatal period.

Examination and assessment of 140 liveborn and stillborn infants referred within two weeks of birth for chromosome analysis showed that 48 had Down's syndrome, 12 other chromosome abnormalities, 17 single gene disorders, 18 recognisable anomalads, 8 recognisable syndromes of unknown aetiology, and the remainder were undiagnosed. Of the non-Down's cases that were diagnosed, 21% had a chromosomal abnormality. These results suggest that a request for chromosome analysis in the newborn period should be viewed as one step in syndrome identification.

Partial monosomy 7 with interstitial deletions in two infants with differing congenital abnormalities.

Two cases of interstitial deletion of chromosome 7 are presented, one involving the short arm and the other the long arm. The cytogenetic, dermatoglyphic, and clinical findings are compared with previously reported cases of chromosome 7 deletion. The patient with a short arm deletion differs clinically from the previously reported cases but, in common with a least one previous case, has a low total finger ridge count.

11q aneuploidy: partial monosomy and trisomy in the children of a mother with a t(3;11)(p27;q23) translocation.

A woman with a balanced translocation t(3;11)(p27;q23) has had three abnormal children. The first child died in infancy, and of the two survivors who show segregation of the derivative maternal translocated chromosomes, one exhibits partial trisomy 11q and the other partial monosomy 11q. The two cases are compared with each other and with reported examples.

Trisomy 16q arising from a maternal 15p;16q translocation.

Trisomy 16q is reported in a malformed infant who died at 12 days of age. The karyotype was 46,XX,der(15)t(15;16) (p11;q11)mat. A balanced translocation was found in the mother.

Segregation of ABO, AK1 and ACONs in families with abnormalities of chromosome 9.

Some families with abnormalities of chromosome 9 have been combined with others from the literature to show that AK1 and ABO must lie near the end of that chromosome. Current evidence suggests that both lie in band 9q34. MNSs, GPT and Gc can be excluded from chromosome 9.

A family with syndactyly type II (synpolydactyly).

Syndactyly Type II is reported in eight members of a family in four generations. Affected individuals show two distinctive patterns of variation in the expression of the gene. Distortion of dermatoglyphic patterns is associated with the severe but not the mild manifestation of the malformation.

Recurrent abortion associated with a balanced 22;22 translocation, or isochromosome 22q in a monozygous twin.

A 45,XX,t(22;22)(p11;q11) or 45,XX,i(22q) chromosomal rearrangement was found in a woman with a history of recurrent abortion. A twin sister did not have the translocation even though marker studies indicate that the twins are probably monozygotic.

An etiological survey of the severely retarded Hertfordshire children who were born between January 1, 1965 and December 31, 1967.

An etiological survey is presented of all suveryl retarded children living in Hertfordshire, at home and in residential care, born between January 1, 1965, and December 31, 1967. One hundred and forty-six children (87 boys and 59 girls) were ascertained, out of a total population of 46,960, with a prevalence of 1 in 320 or 3.1 per 1,000.

Family with probable achondrogenesis and lipid inclusions in fibroblasts.

Three stillborn sibs, two males and a female, with probable achondrogenesis, whose parents are first cousins, are reported. Fibroblast cultures revealed numerous large intracellular lipid inclusions in the two stillborns, which were available for investigation, and these were found to a lesser degree in the mother. No similar inclusions were detected in cultured amniotic cells from a 16-week pregnancy which eventually terminated in the term birth of a healthy female.