Lymphangioleiomyomatosis and tuberous sclerosis HANCOCK, E.; TOMKINS, S.; SAMPSON, J. ...
Respiratory medicine,
January 2002, 2002, 2002-Jan, 2002-01-00, 20020101, Letnik:
96, Številka:
1
Journal Article
Recenzirano
Odprti dostop
Tuberous sclerosis (TSC) is an inherited disorder best known for its association with severe learning difficulties, epilepsy, behavioural problems, skin and renal pathology. Lymphangioleiomyomatosis ...(LAM), characterized by alveolar smooth muscle proliferation and cystic destruction of parenchyma, occurs as an infrequent symptomatic pulmonary complication in TSC and as a very rare sporadic disease in those without signs of TSC. Considered a generalized and progressive cystic lung disease that is difficult to treat with a poor prognosis, it has been reported almost exclusively in women, most commonly presenting with dyspnoea and pneumothorax in those of childbearing age. We investigated the clinical features and prognosis of LAM in patients with TSC including the effects of treatment, stratified by the method of diagnosis of LAM (i.e. histological or radiological). We found histological proof of diagnosis in 10 of 21 patients with TSC and symptomatic lung disease, onset in childhood in four, three males with LAM, individuals with apparently focal disease, great variation in clinical course and no clear treatment benefit. In those with TSC, symptomatic LAM is infrequent but causes a significant morbidity and mortality. It was not possible to detect predisposing factors, other than being female. Males with apparent LAM should be rigorously investigated.
Abstract
Background
Behavioural sleep interventions to improve infant sleep disturbance commonly include extinction where an unwanted behaviour (night time crying) is periodically ignored. There have ...been conflicting findings regarding the impact of extinction methods on infant stress levels as measured with cortisol and as perceived by mothers and only one that measured cortisol at the time of the separation. This study aimed to compare a responsive method to extinction (controlled crying) and a control group evaluating subjective and objective stress for mother/infant dyads at the time of bedtime separation.
Methods
Mother/infant dyads were randomly allocated to behavioural sleep interventions (Responsive - n= 7, Controlled Crying - n=6 or Controls - n=4). Cortisol (two oral swabs on two nights at T2), maternal self-reported stress (Subjective Units of Distress - SUDS), and perceived infant distress (PIS) were compared over eight weeks. Correlations tested relationships between PIS, SUDS and infant cortisol levels. Mixed models analysis were used for cortisol analyses.
Results
There were no significant differences in cortisol levels between groups across time points but significant inter and intra-individual variability. Maternal stress was positively correlated with infant cortisol and PIS (p<0.05) and mothers in the Responsive group were significantly less stressed (p=0.02).
Conclusion
In this small sample, infant cortisol during bedtime separation was variable, elevated in all sleep interventions and not significantly different. Mothers were less stressed in the Responsive group. Findings indicate responsive methods are comparable to extinction and less stressful for mothers offering a possible gentler choice at bedtime separation.
We present a catalogue of refined positions of 68 gamma ray burst (GRB) afterglows observed by the Swift X-ray Telescope (XRT) from the launch up to 2005 Oct. 16. This is a result of the refinement ...of the XRT boresight calibration. We tested this correction by means of a systematic study of a large sample of X-ray sources observed by XRT with well established optical counterparts. We found that we can reduce the systematic error radius of the measurements by a factor of two, from 6.5´´ to 3.2´´ (90% of confidence). We corrected all the positions of the afterglows observed by XRT in the first 11 months of the Swift mission. This is particularly important for the 37 X-ray afterglows without optical counterpart. Optical follow-up of dark GRBs, in fact, will be more efficient with the use of the more accurate XRT positions.
Sequence analysis of the L RNA genome segment and predicted encoded L polymerase protein of Crimean–Congo hemorrhagic fever (CCHF) virus (genus
Nairovirus, family
Bunyaviridae) demonstrates that they ...are approximately twice the size of those found in viruses of other bunyavirus genera. The CCHF virus L segment and encoded protein (12164 nucleotides and 3944 amino acids, respectively) are similar in size and sequence to those of the nairovirus Dugbe virus (12255/62% and 4036/62% nucleotide and amino acid length/identity, respectively). The identification of an ovarian tumor (OTU)-like protease motif in the L protein amino termini of the nairoviruses Dugbe, CCHF, and Nairobi sheep disease (NSD) indicates these proteins are members of the recently described OTU-like protease family and suggests that these large proteins may be polyproteins that are autoproteolytically cleaved or involved in deubiquitination.
Cannabis use is of increasing public health interest globally. Here we examined the effect of heavy cannabis use, with and without tobacco, on genome-wide DNA methylation in a longitudinal birth ...cohort (Christchurch Health and Development Study, CHDS). A total of 48 heavy cannabis users were selected from the CHDS cohort, on the basis of their adult exposure to cannabis and tobacco, and DNA methylation assessed from whole blood samples, collected at approximately age 28. Methylation in heavy cannabis users was assessed, relative to non-users (n = 48 controls) via the Illumina Infinium® MethylationEPIC BeadChip. We found the most differentially methylated sites in cannabis with tobacco users were in the AHRR and F2RL3 genes, replicating previous studies on the effects of tobacco. Cannabis-only users had no evidence of differential methylation in these genes, or at any other loci at the epigenome-wide significance level (P < 10
). However, there were 521 sites differentially methylated at P < 0.001 which were enriched for genes involved in neuronal signalling (glutamatergic synapse and long-term potentiation) and cardiomyopathy. Further, the most differentially methylated loci were associated with genes with reported roles in brain function (e.g. TMEM190, MUC3L, CDC20 and SP9). We conclude that the effects of cannabis use on the mature human blood methylome differ from, and are less pronounced than, the effects of tobacco use, and that larger sample sizes are required to investigate this further.
Quantum gates for the manipulation of topological qubits rely on interactions between non-Abelian anyonic quasiparticles. We study the collective behavior of systems of anyons arising from such ...interactions. In particular, we study the effect of favoring different fusion channels of the screened Majorana spins appearing in the recently proposed topological Kondo effect. Based on the numerical solution of a chain of SO(5) sub(2) anyons we identify two critical phases whose low-energy behavior is characterized by conformal field theories with central charges c = 1 and c = 8/7, respectively. Our results are complemented by exact results for special values of the coupling constants which provide additional information about the corresponding phase transitions.
Objective The evidence for an association between mutations in the HFE (hemochromatosis) gene and the risk of hip or knee osteoarthritis is inconsistent. Total joint replacement is considered a ...surrogate measure for symptomatic end-stage osteoarthritis. We examined the relationship between HFE gene mutations and risk of total hip and knee replacement using a prospective cohort study. Methods The Melbourne Collaborative Cohort Study recruited participants between 1990 and 1994. Participants born in Australia, New Zealand, the United Kingdom, or Ireland ( n = 27,848) were genotyped for the HFE C282Y mutation. Total hip and knee replacements for osteoarthritis during 2001 to 2009 were ascertained from the Australian Orthopaedic Association National Joint Replacement Registry. Hazard ratios (HR)/odds ratios (OR) and confidence intervals (CI) were obtained from Cox regression or logistic regression. Results Compared with those with no C282Y mutation, C282Y homozygotes had an increased risk of single total hip replacement (HR 1.94, 95% CI 1.04-3.62) and bilateral total hip replacement (OR 5.86, 95% CI 2.36-14.57) for osteoarthritis, adjusting for age, sex, body mass index, and educational level. Only 3 C282Y homozygotes had single total knee replacement; the HR was 0.51 (95% CI 0.16-1.57). C282Y/H63D compound heterozygosity was not related to the risk of total hip or knee replacement. Conclusions HFE C282Y homozygosity was associated with an increased risk of both single and bilateral total hip replacement for osteoarthritis.
The influence of early life exposures on later life disease has for some time provided clues to modifiable risk factors of disease. The "atopic march" is thought to play a role in the progression of ...allergic diseases and may offer an opportunity to lower asthma's health and socioeconomic burden, although evidence remains controversial. We aimed to examine the relationship between early life eczema and asthma later in life. Using the National Child Development Study, we examined infant eczema and childhood and adult asthma. Data related to asthma or wheezing bronchitis were available for 13,503 (73%; 95% CI 72⁻74), 11,503 (61%; 95% CI 60⁻61), 12,524 (68%; 95% CI 67⁻69), 11,194 (60%; 95% CI 60⁻60), 9377 (51%; 95% CI 51⁻51), and 9760 (53%; 95% CI 52⁻53) subjects at ages 11, 16, 23, 33, 44, and 50 years, respectively. Logistic regression models were fitted to examine each wave separately before and after adjusting for a range of potential confounders. Generalised estimating equation (GEE) methods were undertaken to examine the associations after pooling all data from questionnaires. The prevalence of self-reported asthma in those that had previously reported infant eczema ranged from 1.0%; 95% CI 0.9⁻1.4 (age 44 years) to 2.2%; 95% CI 2.1⁻2.3 (age 33 years). Participants with infant eczema had a 2⁻3-fold increased risk of reporting asthma in childhood and adulthood; this was 1.6 times at age 44 years when using spirometry measures. Similar effect sizes were observed in the GEE models when considering all participants (OR 2.9; 95% CI 2.6⁻3.2). Childhood and adult asthma were consistently associated with infant eczema both by using the self-reported data and lung measures.
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