Fragile X‐associated tremor/ataxia syndrome (FXTAS) is an adult‐onset neurodegenerative disorder associated with premutation alleles of the fragile X mental retardation 1 (FMR1) gene. Approximately ...40% of older male premutation carriers, and a smaller proportion of females, are affected by FXTAS; due to the lower penetrance the characterization of the disorder in females is much less detailed. Core clinical features of FXTAS include intention tremor, cerebellar gait ataxia and frequently parkinsonism, autonomic dysfunction and cognitive deficits progressing to dementia in up to 50% of males.
In this study, we report the clinical, molecular and neuropathological findings of eight female premutation carriers. Significantly, four of these women had dementia; of the four, three had FXTAS plus dementia. Post‐mortem examination showed the presence of intranuclear inclusions in all eight cases, which included one asymptomatic premutation carrier who died from cancer. Among the four subjects with dementia, three had sufficient number of cortical amyloid plaques and neurofibrillary tangles to make Alzheimer's disease a highly likely cause of dementia and a fourth case had dementia with cortical Lewy bodies. Dementia appears to be more common than originally reported in females with FXTAS. Although further studies are required, our observation suggests that in a portion of FXTAS cases there is Alzheimer pathology and perhaps a synergistic effect on the progression of the disease may occur.
Premutation alleles (55–200 CGG repeats) of the fragile X mental retardation (FMR1) gene have been linked to various types of clinical involvement ranging from mood and anxiety disorders to ...immunological disorders and executive function deficits. Carrier females typically have a premutation allele and a normal allele (<55 CGG repeats). Although rare, seven cases of females that carry two expanded alleles (compound heterozygous premutation) have been reported. Here, we report on four members of a family including two compound heterozygous premutation sisters with similar CGG allele sizes, affected with different levels of clinical severity.
Background Fullbred Chinese and Indian rhesus macaques represent genetically distinct populations. The California National Primate Research Center introduced Chinese founders into its Indian‐derived ...rhesus colony in response to the 1978 Indian embargo on exportation of animals for research and the concern that loss of genetic variation in the closed colony would hamper research efforts. The resulting hybrid rhesus now number well over a thousand animals and represent a growing proportion of the animals in the colony.
Methods We characterized the population genetic structure of the hybrid colony and compared it with that of their pure Indian and Chinese progenitors.
Results The hybrid population contains higher genetic diversity and linkage disequilibrium than their full Indian progenitors and represents a resource with unique research applications.
Conclusions The genetic diversity of the hybrids indicates that the strategy to introduce novel genes into the colony by hybridizing Chinese founders and their hybrid offspring with Indian‐derived animals was successful.
Abstract
Background
Anthrax is a zoonotic infection caused by the bacteria
Bacillus anthracis
. Humans acquire cutaneous infection through contact with infected animals or animal products. On May 6, ...2018, three cows suddenly died on a farm in Kiruhura District. Shortly afterwards, a sub-county chief in Kiruhura District received reports of humans with suspected cutaneous anthrax in the same district. The patients had reportedly participated in the butchery and consumption of meat from the dead cows. We investigated to determine the magnitude of the outbreak, identify exposures associated with illness, and suggest evidence-based control measures.
Methods
We conducted a retrospective cohort study among persons whose households received any of the cow meat. We defined a suspected human cutaneous anthrax case as new skin lesions (e.g., papule, vesicle, or eschar) in a resident of Kiruhura District from 1 to 26 May 2018. A confirmed case was a suspected case with a lesion testing positive for
B. anthracis
by polymerase chain reaction (PCR). We identified cases through medical record review at Engari Health Centre and active case finding in the community.
Results
Of the 95 persons in the cohort, 22 were case-patients (2 confirmed and 20 suspected, 0 fatal cases) and 73 were non-case household members. The epidemic curve indicated multiple point-source exposures starting on May 6, when the dead cows were butchered. Among households receiving cow meat, participating in slaughtering (RR = 5.3, 95% CI 3.2–8.3), skinning (RR = 4.7, 95% CI = 3.1–7.0), cleaning waste (RR = 4.5, 95% CI = 3.1–6.6), and carrying meat (RR = 3.9, 95% CI = 2.2–7.1) increased the risk of infection.
Conclusions
This cutaneous anthrax outbreak was caused by handling infected animal carcasses. We suggested to the Ministry of Agriculture, Animal Industry and Fisheries to strengthen surveillance for possible veterinary anthrax and ensure that communities do not consume carcasses of livestock that died suddenly. We also suggested that the Ministry of Health equip health facilities with first-line antibiotics for community members during outbreaks.
This study examines spatial and temporal variation in the forest structure of the Kibale National Park, Uganda by contrasting tree density, tree size, and forest composition among four areas each ...separated by less than 15 km, and by quantifying changes in the composition of one of these forests over a 20‐year period. Densities of some tree species differed markedly between sites, and some species common at one location were absent at others. Monthly phenological monitoring demonstrated that it was not uncommon for phenological patterns to differ between the forests. To examine temporal variation in the tree composition over a 20‐year period, a sampling regime that was carried out in the early 1970s was replicated on the floristic composition of one of these sites, using identical methods in the same sampling areas. While no form of human intervention occurred in this area between the early 1970s and 1992, there were marked changes in the densities of some tree species. Twenty‐seven percent of the identified species increased in abundance, 33% decreased, and 40% remained relatively unchanged. The observed spatial and temporal variation in forest composition could be the result of abiotic factors, such as altitude or rainfall, or biotic factors such as elephant and/or human influences on ecosystem dynamics; the implications of this variation for frugivores are discussed.
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