Studies of Linkage in Populations. IX. the Effect of Altitude on X-Chromosomal Arrangement Combinations in DROSOPHILA ROBUSTA.

Data are presented concerning the gene arrangements in both arms of the X-chromosome of Drosophila robusta in eight altitudinal transects. The major change appears to be the increase of gene arrangement XL-1 (and decrease in XL, sometimes also XL-2) with increasing altitude. In each transect only one combination of XL-1 with a right arm arrangement seems primarily responsible for the increases with altitudinal change, and only one combination of XL for the decreases. In four of the transects the increasing combination appears to be XL-1.XR, XL-1.XR-2 in the other four. A substantial decrease with elevation in XL-2.XR-2 occurs only in the four areas where XL-1.XR exhibits the major increase. These results indicate that interactions between arrangements play a significant role in the adaptation of this species to altitude. The interactions appear related to the X-chromosomal linkage equilibriums in these regions. The data also suggest that the species employs its inversions in different methods of adaptation in the Appalachian Mountains from those it uses in other parts of the range.

Association of alleles of the malic dehydrogenase locus with a pericentric inversion in Drosophila robusta.

Associations of Malic dehydrogenase alleles with the third chromosome arrangement 3R and the pericentric arrangement 3L-R are described. Even though significant associations between alleles and inversions exist within a population, there is an overall similarity in MDH allele frequencies in different populations inspite of large differences in inversion frequencies.

Associations of alleles of the esterase-1 locus with gene arrangements of the left arm of the second chromosome in Drosophila robusta.

Evidence of strong associations of Est-1 alleles with the 2L, 2L1 and 2L3 gene arrangements of the left arm of the second chromosome in D. robusta is presented. Each gene arrangement is polymorphic for three to four Est-1 alleles. The allele frequencies differ in the 2L3 and 2L arrangements; the allele Est-1(.92) is 8% in the 2L3 arrangement (n=203)-this allele is 82% in the 2L arrangement (n=203); the allele Est-1(1.0) is 66% and 14.8% in the 2L3 and 2L arrangements, respectively. There are no differences in allele frequencies in 2L3 arrangements from any of the widely separated seven different populations; similarly the allele frequencies in the 2L arrangement are alike in all five widely separated populations studied. The allele frequencies in the 2L1 arrangement are intermediate to those observed in the 2L3 and the 2L arrangements and show north-south clinal change. These associations between Est-1 alleles and gene arrangements of the left arm of the second chromosome are due to natural selection favoring different allele frequencies in different gene arrangements, as a result of epistatic interactions between the Est-1 locus and the loci on the gene arrangements. As expected, we observe that the proportion of heterozygotes is greater in the inversion heterokaryotypes than in the homokaryotypes.

Studies of linkage in populations. XIV. Historical changes in frequencies of gene arrangements and arrangement combinations in natural populations of Drosophila robusta.

Data are reported showing large directional changes in the frequencies of some gene arrangements and arrangement combinations in certain natural populations of Drosophila robusta in the eastern United States. The changes involve the same X-chromosomal inversion differences in two of the three localities studied and similar autosomal inversions in all three. These genetic changes provide a rare opportunity to observe evolutionary forces at work in nature. They are interpreted as being due to natural selection.

25 years of a unique chromosome-breakage system. I. Principal features and comparison to other systems.

The principal features of the D. robusta chromosome-breakage system are reviewed and compared to intrinsic chromosome-breakage systems in other Drosophila species, particularly the 'hybrid dysgenesis' systems of D. melanogaster. The data indicate that the D. robusta system is unique in many respects, especially in its combination of a reciprocal cross effect, traceable to its maternal or cytoplasmic inheritance, exclusive susceptibility of the paternal chromosomes, and the randomness of the breaks on the chromosomes.

Adult onset systemic carnitine deficiency: favorable response to L-carnitine supplementation.

We report the case of a patient who at age 39 first developed an episode of muscle weakness and transient ketoacidosis with biopsy proven fatty infiltration of the liver. Over the next several years, myopathy ensued; biopsy revealed extensive deposition of lipid globules in type 1 muscle fibres. Further investigations established the diagnosis of systemic carnitine deficiency (SCD) with skeletal muscle, hepatic, and cardiac involvement. The patient has benefited from L-carnitine supplementation. Our case represents an unusually late onset of SCD and highlights the necessity, when appropriate, of a high index of suspicion of this rare but treatable disorder.

[Giant spreading villous tumors of the colon and rectum]. / Gigantskie steliushchiesia vorsinchatye opukholi obodochnoi i priamoi kishok.

Two rare observations in which villous tumors affected the mucous membranes of the rectum and transverse colon are described. In one case the lesions extended for 60 cm, in the other the neoplasm occupied the entire inner surface of the rectum and colon as well as the adjacent area of the ileum, whereas in the area of the liver and spleen bends there were areas of adenocarcinoma. Both observations were characterized by marked inflammatory infiltration in some parts of the villous tumor.

[Features of inflammation of the mucosa of the large intestine in nonspecific ulcerative colitis and Crohn's disease]. / Osobennosti vospaleniia slizistoi obolochki tolstoi kishki pri nespetsificheskom iazvennom kolite i bolezni Krona.

Histological, morphometric, and immunohistochemical studies (with detection of the local production of IgA, IgM, IgG, IgE, and IgD, secretory component of IgA, and deposition of the third complement component, C3) were carried out on biopsies of the colon mucosa from 66 patients with recurrent and continuous forms of nonspecific ulcerative colitis and 16 patients with Crohn's disease. Inflammation in the colon mucosa in the diseases under study was found to be accompanied by marked activation of the local immune system, increased local production of IgA and IgM as well as IgG, particularly in those parts of the mucosa which had no glands. Local synthesis of IgE and IgD also increases indicating allergic reaction in the mucosa alongside with tissue eosinophilia. The basal membrane of the surface epithelium was found to have C3 depositions. A typical feature was the lack of correlation between infiltration of the layer proper of the mucosa and epithelium which is regarded to be a manifestation of deficiency of T-lymphocytes (subpopulation of suppressors or lymphocytes taking part in regulation of epithelium regeneration).

[Determination of cyclic AMP and protein kinases in the diagnosis of colonic tumors]. / Opredelenie tsAMF i proteinkinaz v diagnostike opukholei tolstoi kishki.

The cAMP level and the activity of cAMP-dependent and independent protein kinases were measured in adenomatous polyps, villous polyps (premalignant condition) and adenocarcinomas. The cAMP concentration and ratio of cAMP level versus cAMP-independent casein kinase activity were significantly lower in adenocarcinomas compared to adenomatous polyps, thus permitting differentiation between benign and malignant lesions. The cAMP versus cAMP-dependent histone kinase level ratio was used as a test for differentiation between malignancies and premalignant condition. It was markedly lower in adenocarcinomas than in villous polyps.

[Effect of panangin on potassium level in patients with non-specific ulcerative colitis]. / Vliianie panangina na uroven' kaliia u bol'nykh nespetsificheskim iazvennym kolitom.

Daily injections of panangin to patients with non-specific ulcerative colitis results in the increased concentration of potassium in biological media of the organism.

Postural balance in patients with social anxiety disorder.

Body stability is controlled by the postural system and can be affected by fear and anxiety. Few studies have addressed freezing posture in psychiatric disorders. The purpose of the present study was to assess posturographic behavior in 30 patients with social anxiety disorder (SAD) and 35 without SAD during presentation of blocks of pictures with different valences. Neutral images consisted of objects taken from a catalog of pictures, negative images were mutilation pictures and anxiogenic images were related to situations regarding SAD fears. While participants were standing on a force platform, similar to a balance, displacement of the center of pressure in the mediolateral and anteroposterior directions was measured. We found that the SAD group exhibited a lower sway area and a lower velocity of sway throughout the experiment independent of the visual stimuli, in which the phobic pictures, a stimulus associated with a defense response, were unable to evoke a significantly more rigid posture than the others. We hypothesize that patients with SAD when entering in a situation of exposure, from the moment the pictures are presented, tend to move less than controls, remaining this way until the experiment ends. This discrete body manifestation can provide additional data to the characterization of SAD and its differentiation from other anxiety disorders, especially in situations regarding facing fear.

Psychopharmacotherapy of panic disorder: 8-week randomized trial with clonazepam and paroxetine.

The objective of the present randomized, open-label, naturalistic 8-week study was to compare the efficacy and safety of treatment with clonazepam (N = 63) and paroxetine (N = 57) in patients with panic disorder with or without agoraphobia. Efficacy assessment included number of panic attacks and clinician ratings of the global severity of panic disorders with the clinical global impression (CGI) improvement (CGI-I) and CGI severity (CGI-S) scales. Most patients were females (69.8 and 68.4% in the clonazepam and paroxetine groups, respectively) and age (mean ± SD) was 35.9 ± 9.6 years for the clonazepam group and 33.7 ± 8.8 years for the paroxetine group. Treatment with clonazepam versus paroxetine resulted in fewer weekly panic attacks at week 4 (0.1 vs 0.5, respectively; P < 0.01), and greater clinical improvements at week 8 (CGI-I: 1.6 vs 2.9; P = 0.04). Anxiety severity was significantly reduced with clonazepam versus paroxetine at weeks 1 and 2, with no difference in panic disorder severity. Patients treated with clonazepam had fewer adverse events than patients treated with paroxetine (73 vs 95%; P = 0.001). The most common adverse events were drowsiness/fatigue (57%), memory/concentration difficulties (24%), and sexual dysfunction (11%) in the clonazepam group and drowsiness/fatigue (81%), sexual dysfunction (70%), and nausea/vomiting (61%) in the paroxetine group. This naturalistic study confirms the efficacy and tolerability of clonazepam and paroxetine in the acute treatment of patients with panic disorder.