Hereditary lymphoedema-distichiasis (LD) is an autosomal dominant disorder that classically presents as lymphoedema of the limbs, with variable age of onset, and extra aberrant growth of eyelashes ...from the Meibomian gland (distichiasis). Other major reported complications include cardiac defects, cleft palate, and extradural cysts. Photophobia, exotropia, ptosis, congenital ectropion, and congenital cataracts are additional eye findings. Recently, we reported that truncating mutations in the forkhead transcription family member FOXC2 resulted in LD in two families.
The clinical findings in seven additional families with LD, including the original family described by Falls and Kertesz, were determined and mutational analyses were performed.
Distichiasis was the most common clinical feature followed by age dependent lymphoedema. There is a wide variation of associated secondary features including tetralogy of Fallot and cleft palate. The mutational analyses identified truncating mutations in all of the families studied (two nonsense, one deletion, three insertion, and one insertion-deletion), which most likely result in haploinsufficiency of FOXC2.
FOXC2 mutations are highly penetrant with variable expressivity which is not explicable by the pattern of mutations.
Substance use disorders (SUD) are inheritable and the culprit is hypodopaminergic function regulated by reward genes. We evaluated a natural dopaminergic agonist; KB220 intravenous (IV) and oral ...variants, to improve dopaminergic function in SUD. Our pilot experiment found a significant reduction of chronic symptoms, measured by the Chronic Abstinence Symptom Severity (CASS) Scale. The combined group (IV and oral) did significantly better than the oral-only group over the first week and 30-day follow-up period. Next, the combination was given to129 subjects and three factors; Emotion, Somatic, and Impaired Cognition, with eigenvalues greater than one were extracted for baseline CASS-Revised (CASS-R) variables. Paired sample t-tests for pre and post-treatment scales showed significant declines (p = .00001) from pre- to post-treatment: t = 19.1 for Emotion, t = 16.1 for Somatic, and t = 14.9 for Impaired Cognition. In a two-year follow-up of 23 subjects who underwent KB220IV therapy (at least five IV treatments over seven days) plus orals for 30+ days: 21 (91%) were sober at six months, 19 (82%) having no relapse; 19 (82%) were sober at one year, 18 (78%) having no relapse; and 21 (91%) were sober two-years post-treatment, 16 (70%) having no relapse. We await additional research and advise caution in interpreting these encouraging results.
Here, we jointly summarise scientific evidence for genetic variation in resistance to infection with Mycobacterium bovis, the primary agent of bovine tuberculosis (TB), provided by two recent and ...separate studies of Holstein-Friesian dairy cow populations in Great Britain (GB) and Ireland.
The studies quantified genetic variation within archived data from field and abattoir surveillance control programmes within each country. These data included results from the single intradermal comparative tuberculin test (SICTT), abattoir inspection for TB lesions and laboratory confirmation of disease status. Threshold animal models were used to estimate variance components for responsiveness to the SICTT and abattoir confirmed M. bovis infection. The link functions between the observed 0/1 scale and the liability scale were the complementary log-log in the GB, and logit link function in the Irish population.
The estimated heritability of susceptibility to TB, as judged by responsiveness to the SICTT, was 0.16 (0.012) and 0.14 (0.025) in the GB and Irish populations, respectively. For abattoir or laboratory confirmation of infection, estimates were 0.18 (0.044) and 0.18 (0.041) from the GB and the Irish populations, respectively.
Estimates were all significantly different from zero and indicate that exploitable variation exists among GB and Irish Holstein Friesian dairy cows for resistance to TB. Epidemiological analysis suggests that factors such as variation in exposure or imperfect sensitivity and specificity would have resulted in underestimation of the true values.
Two plots in a red pine stand at the Harvard Forest, Massachusetts, havebeen fertilized for 7 yr with 5 g·m-2·yr-1or 15 g·m-2·yr-1of N and compared to an unfertilized control to study the effects of ...chronic N additions on nutrient cycling, plants, and soil. Movement of added N into soils and plant biomass was tracked using additions of an15N label to the 5 g·m-2·yr-1and control plots for two of these years. We present data on changes in the understory plant community of these plots. We measured aboveground biomass, density, N and other elemental concentrations, and15N tracer recoveries to catalogue the effects of the N additions on this community. Nitrogen contents increased while biomass and nutrient cation concentrations decreased in some species. Percent recoveries of15N tracers were small but detectable. The natural abundances of15also increased in a fertilized treatment without tracer additions. Though this forest has not yet reached N saturation by some definitions, it is possible that the understory is already saturated with N. Understory species may be useful indicators for N saturation through their increasing N content, decreasing nutrient concentrations, and increasing δ15N in tissues.
The nature of dimethylalane, Me2AlH n , in the vapor phase and in hydrocarbon solutions has been reinvestigated experimentally by gas electron diffraction (GED), IR and mass spectrometric, and vapor ...pressure depression measurements, and also by quantum chemical calculations. The predominant vapor species at low pressures and temperatures near 470 K is the dimer (n = 2), but at temperatures near 330 K the vapor consists of a mixture of the dimer and a smaller proportion (ca. 30%) of the trimer (n = 3). The results of the GED measurements have been analyzed, together with those of ab initio calculations, using the SARACEN method to determine the most reliable structures of the doubly hydrogen-bridged dimer, Me2Al(μ-H)2AlMe2, and singly hydrogen-bridged trimer, Salient structural parameters in the r a structures were thus found to be (a) for the dimer, r(Al−H) 177.6(7), r(Al−C) 195.2(2), r(Al···Al) 262.5(6), r(C−H) 111.4(2) pm; ∠C−Al−C 117.7(4), ∠Al−H−Al 95.3(6), ∠Al−C−H 108.9(7)°; and (b) for the trimer, r(Al−H) 171.1(23), r(Al−C) 195.8(3), r(Al···Al) 315.3(8) pm; ∠Al−H−Al 134.3(36), ∠Al−C−H 110.1(31)°. However, solution studies indicate the presence of an oligomer Me2AlH n with n > 3, in addition to the dimer and, probably, the trimer.
Accessory lung lobe torsion and chylothorax in an Afghan hound Gelzer, A.R.M. (The University of Georgia, Athens, GA.); Downs, M.O; Newell, S.M ...
The Journal of the American Animal Hospital Association,
03/1997, Letnik:
33, Številka:
2
Journal Article
Recenzirano
Torsion of the accessory lung lobe is extremely rare and has been reported only in one human. Accessory lung lobe torsion (LLT) and chylothorax occurred in a 3.5-year-old, male Afghan hound. An ...exploratory thoracotomy was used to remove the torsed lung lobe. When medical management of the chylous effusion failed, thoracic duct ligation was performed, resulting in resolution of the effusion. The dog remains clinically healthy 29 months postoperatively.
The bisphosphonate alendronate and conjugated equine estrogens are both
widely used for the treatment of postmenopausal osteoporosis. Acting by
different mechanisms, these two agents decrease bone ...resorption and
thereby increase or preserve bone mineral density (BMD). The
comparative and combined effects of these medications have not been
rigorously studied. This prospective, double blind, placebo-controlled,
randomized clinical trial examined the effects of oral alendronate and
conjugated estrogen, in combination and separately, on BMD, biochemical
markers of bone turnover, safety, and tolerability in 425
hysterectomized postmenopausal women with low bone mass. In addition,
bone biopsy with histomorphometry was performed in a subset of
subjects. Treatment included placebo, alendronate (10 mg daily),
conjugated equine estrogen (CEE; 0.625 mg daily), or alendronate (10 mg
daily) plus CEE (0.625 mg daily) for 2 yr. All of the women received a
supplement of 500 mg calcium daily. At 2 yr, placebo-treated patients
showed a mean 0.6% loss in lumbar spine BMD, compared with mean
increases in women receiving alendronate, CEE, and alendronate plus CEE
of 6.0% (P < 0.001 vs. placebo),
6.0% (P < 0.001 vs. placebo), and
8.3% (P < 0.001 vs. placebo and
CEE; P = 0.022 vs. alendronate),
respectively. The corresponding changes in total proximal femur bone
mineral density were +4.0%, +3.4%, +4.7%, and +0.3% for the
alendronate, estrogen, alendronate plus estrogen, and placebo groups,
respectively. Both alendronate and CEE significantly decreased
biochemical markers of bone turnover, specifically urinary
N-telopeptide of type I collagen and serum bone-specific alkaline
phosphatase. The alendronate plus CEE combination produced slightly
greater decreases in these markers than either treatment alone, but the
mean absolute values remained within the normal premenopausal range.
Alendronate, alone or in combination with CEE, was well tolerated. In
the subset of patients who underwent bone biopsies, histomorphometry
showed normal bone histology with the expected decrease in bone
turnover, which was somewhat more pronounced in the combination
group.
Thus, alendronate and estrogen produced favorable effects on BMD.
Combined use of alendronate and estrogen produced somewhat larger
increases in BMD than either agent alone and was well tolerated.
PDF
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