Autosomal dominant inheritance of left ventricular outflow tract obstruction

Most nonsyndromic congenital heart malformations (CHMs) in humans are multifactorial in origin, although an increasing number of monogenic cases have been reported recently. We describe here four new families with presumed autosomal dominant inheritance of left ventricular outflow tract obstruction (LVOTO), consisting of hypoplastic left heart (HLHS) or left ventricle (HLV), aortic valve stenosis (AS) and bicuspid aortic valve (BAV), hypoplastic aortic arch (HAA), and coarctation of the aorta (CoA). LVOTO in these families shows a wide clinical spectrum with some family members having severe anomalies such as hypoplastic left heart, and others only minor anomalies such as mild aortic valve stenosis. This supports the suggestion that all anomalies of the LVOTO spectrum are developmentally related and can be caused by a single gene defect.     

DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients

Duchenne and Becker muscular dystrophy (DMD and BMD) are caused by mutations in the dystrophin gene. Large rearrangements in the gene are found in about two-thirds of DMD patients, with approximately 60% carrying deletions and 5-10% carrying duplications. Most of the remaining 30-35% of patients are expected to have small nucleotide substitutions, insertions, or deletions. To detect these subtle changes within the coding and splice site determining sequences of the dystrophin gene, we established a semiautomated denaturing gradient gel electrophoresis (DGGE) mutation scanning system. The DGGE scan covers the dystrophin gene with 95 amplicons, PCRed either individually or in a multiplex setup. PCR and pooling were performed semiautomatically, using a pipetting robot and 384-well plates, enabling concurrent amplification of DNA of four patients in one run. Amplification of individual fragments was performed using one PCR program. The products were pooled just before gel loading; DGGE requires only a single gel condition. Validation was performed using DNA samples harboring 39 known DMD variants, all of which could be readily detected. DGGE mutation scanning was applied to analyze 135 DMD/BMD patients and potential DMD carriers without large deletions or duplications. In DNA from 25 out of 44 DMD patients (57%) and from 5 out of 39 BMD patients (13%), we identified clear pathogenic changes. All mutations were different, with the exception of one DMD mutation, which occurred twice. In DNA from 10 out of 44 potential DMD carriers, including four obligate carriers, we detected causative changes, including one pathogenic change in every obligate carrier. In addition to these pathogenic changes, we detected 15 unique unclassified variants, i.e., changes for which a pathogenic nature is uncertain.     

A dual vulnerability hypothesis for seasonal depression is supported by the seasonal pattern assessment questionnaire in relation to the temperament and character inventory of personality in a general population

BACKGROUND: Personality structure obtained from the psychobiological Temperament and Character Inventory (TCI) was studied in relation to self-reported seasonal variations in mood and behavior measured by the Seasonal Pattern Assessment Questionnaire (SPAQ). METHODS: The subjects comprised 1761 adults (57.6% women) in the age range 35-85 years, enrolled in the Betula prospective random cohort study of Umea, Sweden. RESULTS: Personality profiles of subjects who reported the occurrence of a high degree of seasonal variation as such were associated with a combination of high self-transcendence (ST) and high persistence (PS), irrespective of the level of harm avoidance (HA). Subjects who reported feeling worst in winter were associated with high HA, irrespective of the levels of ST and PS. Also, subjects feeling worst in summer or experiencing overall problems with seasonal variation were associated with high HA in their personality profiles. Using the SPAQ criteria to define seasonal affective disorder (SAD) or subsyndromal SAD (S-SAD), subjects with these disorders often had combinations of high self-transcendence (ST) and high persistence (PS), but with different associations with HA. LIMITATIONS: No evaluations were made for SAD or subsyndromal SAD according to the DSM-IV or ICD 10 criteria. CONCLUSIONS: Our results relating SPAQ with TCI give support for a dual vulnerability hypothesis for seasonal depression proposed in the literature, where it is attributed to a combination of a seasonal factor and a depression factor. Examining the literature regarding the relationships between the different TCI scales and monoamine neurotransmitter functions, those relationships suggest that these two vulnerability factors for seasonal depression may be modulated by different neurotransmitter systems.     

Monoclonal antibodies specific for the two types of wall-forming bodies of Eimeria tenella macrogametes (Coccidia, Apicomplexa)

Two monoclonal antibodies (mAbs) raised against the macrogamonts of Eimeria tenella identified antigens located in the wall-forming bodies of type I (WF I) and type II (WF II) by indirect immunofluorescence and by immunoelectron microscopy. With these mAbs, the involvement of both types of wall-forming body at the protein level in the formation of the inner and outer oocyst walls of E. tenella was shown by indirect immunofluorescence assay. On Western blots of pure macrogamont, mAb E1D8 against WF I reacted with a series of bands between 42 kDa and 105 kDa. In pure, unsporulated extract, this mAb recognized a complex of bands between 26 kDa and 153 kDa. mAb E2E5 against WF II, on Western blots of pure extract of macrogamonts, recognized an antigen of 51 kDa. Later in the development, after the formation of the inner oocyst wall, mAb E2E5 reacted with three polypeptide of 23, 25 and 30 kDa. Proteolytic processing may be forwarded as the mechanism regulating the distinct regulation protein involved in the oocyst wall.     

Reactions of Musca domestica L. (Diptera: Muscidae) to parasitism by Aphaereta pallipes (Say) (Hymenoptera: Braconidae), with special reference to host diet and parasitoid toxin

Summary Varying host reaction of the house fly, Musca domestica L., to parasitism by the braconid Aphaereta pallipes (Say) was chiefly correlated with the diet of the host. Some evidence was found that implicated the strain of the host, the rearing temperatures, the ages of the parasitoid and the host, and the site of oviposition. Though development of A. pallipes embryos was inhibited before they became encapsulated with melanin within the host, the presence of the parasitoid and (or) the effect of its paralyzing toxin that was injected into the host just before oviposition prevented normal larval, pupal, or adult development of the six house fly strains tested. A considerable increase of parasitoid survival occurred when M. domestica larvae were reared on a chemically defined diet.

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Zusammenfassung Musca domestica L. reagierte unterschiedlich auf die Parasitierung durch die Braconide Aphaereta pallipes (Say). Die verschiedenen Reaktionen waren im wesentlichen mit der Art der Wirtsnahrung korreliert. Daneben finden sich Hinweise, daß auch der Wirtsstamm, dessen Zuchttemperatur, das Alter von Parasit und Wirt und der Eiablageort des Parasiten die Reaktionen beeinflussen. Obgleich die Entwicklung von Parasitenembryonen bereits gehemmt war, ehe sie innerhalb des Wirtes von Melanin eingeschlossen wurden, so verhinderten doch die Parasiten-embryonen und/oder die Wirkung der vor der Eiablage abgegebenen Paralysierungstoxine die normale Entwicklung der Wirte aus sechs Fliegenstämmen. Eine beträchtliche Steigerung der Überlebensrate der Parasiten trat ein, wenn M. domestica-Larven in einem Gemisch chemisch genau definierter Nahrung gezogen wurden.

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With 8 Figures in the Text

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Formerly National Research Council Postdoctorate Fellow, Research Institute, Belleville, Ontario.     

Patient involvement in oral hygiene cooperation: a factor analytic study

In a previous study the concept "patient involvement" was found to be strongly predictive of therapy outcome. On the basis of a questionnaire concerning patients' background and motivation, 82 patients were interviewed before treatment. To cover the concept "patient involvement" 16 variables were considered as relevant measures. In a factor analysis four factors accounted for 90% of the common variance. The factors were interpreted in terms of: initial attitudes, attendance, self-confidence and teeth-mindedness.     

The bilateral conchal cartilage graft: A new technique in augmentation rhinoplasty

The most common procedures to reconstruct a severe saddle-nose deformity are autogenous costal cartilage, iliac bone grafting, or Silastic implants. Each of them has its specific disadvantages. As an alternative solution, an autogenous bilateral conchal graft in sand-wich technique is described. A 3-layer graft for the dorsum and a 2-layer graft to support the depressed columellar-tip area grants a more natural and elastic reconstruction of the nasal framework. The conchal grafts are taken by an incision made on the preauricular surface of the ear. How to plane the curved grafts by meticulous cross-hatching and to immobilize them in the recipient area by transcutaneous suturing is demonstrated.Presented at the VIII International Congress of Plastic and Reconstructive Surgery, Montreal, Canada, June, 1983