Secondary Aural Symptoms in Relation to Cranio-Cervical and General Disorders

The present thesis comprises two study populations. The first study sample (SS1) consisted of 411 adults examined and interviewed at three annual visits. The second study sample (SS2) consisted of 1720 adults who filled in a mailed questionnaire about secondary otalgia, tinnitus and fullness of ears. In the second phase of the SS2, 100 subjects with otalgia were examined and interviewed by specialist in stomatognathic physiology and otorhinolaryngology. In the third phase, 36 subjects participated in a randomized, controlled and blinded trial of effectiveness of occlusal appliance on secondary otalgia, facial pain, headache and treatment need of temporomandibular disorders (TMD). The standardized prevalence of recurrent secondary otalgia was 6%, tinnitus 15% and fullness of ears 8%. Aural symptoms were more frequent among young than old subjects. They were associated with other, simultaneous aural symptoms, TMD pain, head and neck region pain, and visits to a physician. The subjects with aural symptoms more often had tenderness on palpation of masticatory muscles and clinical signs of temporomandibular joint than the subjects without. 85% of the subjects reporting secondary otalgia had cervical spine or temporomandibular disorder or both. In SS1, the final model of secondary otalgia included active need treatment for TMD, elevated level of stress symptoms, and bruxism. In SS2, the final models of aural symptoms included associated aural symptoms, young age, TMD pain, headache and shoulder ache. Stabilization splint more effectively alleviated secondary otalgia and active treatment need for TMD than a palatal control splint. In patients with aural pain, tinnitus or fullness of ears, it is important to first rule out otologic and nasopharyngeal diseases that may cause the symptoms. If no explanation for aural symptoms is found, temporomandibular and cervical spine disorders should be rouled out to minimize unnecessary visits to a physician.

Maize response to nitrogen fertilization timing in two tillage systems in a soil with high organic matter content

No-tillage systems, associated to black oat as preceding cover crop, have been increasingly adopted. This has motivated anticipated maize nitrogen fertilization, transferring it from the side-dress system at the stage when plants have five to six expanded leaves to when the preceding cover crop is eliminated or to maize sowing. This study was conducted to evaluate the effects of soil tillage system and timing of N fertilization on maize grain yield and agronomic efficiency of N applied to a soil with high organic matter content. A three-year field experiment was conducted in Lages, state of Santa Catarina, from 1999 onwards. Treatments were set up in a split plot arrangement. Two soil tillage systems were tested in the main plots: conventional tillage (CT) and no-tillage (NT). Six N management systems were assessed in the split-plots: S1 - control, without N application; S2 - all N (100 kg ha-1) applied at oat desiccation; S3 - all N applied at maize sowing; S4 - all N side-dressed when maize had five expanded leaves (V5 growth stage); S5 - 1/3 of N rate applied at maize sowing and 2/3 at V5; S6 - 2/3 of nitrogen rate applied at maize sowing and 1/3 at V5. Maize response to the time and form of splitting N was not affected by the soil tillage system. Grain yield ranged from 6.0 to 11.8 t ha-1. The anticipation of N application (S2 and S3) decreased grain yield in two of three years. In the rainiest early spring season (2000/2001) of the experiment, S4 promoted an yield advantage of 2.2 t ha-1 over S2 and S3. Application of total N rate before or at sowing decreased the number of kernels produced per ear in 2000/2001 and 2001/2002 and the number of ears produced per area in 2001/2002, resulting in reduced grain yield. The agronomic efficiency of applied N (kg grain increase/kg of N applied) ranged from 13.9 to 38.8 and was always higher in the S4 than in the S2 and S3 N systems. Short-term N immobilization did not reduce grain yield when no N was applied before or at maize sowing in a soil with high organic matter content, regardless of the soil tillage system.

Population-based registration of phenotypic anatomic and familial data for melanoma: results from a Swiss multicentric study

CONTEXT AND OBJECTIVES: A multicentric study was set up to assess the feasibility for Swiss cancer registries of actively retrieving 3 additional variables of epidemiological and a etiological relevance for melanoma, and of potential use for the evaluation of prevention campaigns. MATERIAL AND METHODS: The skin type, family history of melanoma and precise anatomical site were retrieved for melanoma cases registered in 5 Swiss cantons (Neuchâtel, St-Gall and Appenzell, Vaud and Wallis) over 3 to 6 consecutive years (1995-2002). Data were obtained via a short questionnaire administered by the physicians - mostly dermatologists - who originally excised the lesions. As the detailed body site was routinely collected in Ticino, data from this Cancer Registry were included in the body site analysis. Relative melanoma density (RMD) was computed by the ratio of observed to expected numbers of melanomas allowing for body site surface areas, and further adjusted for site-specific melanocyte density. RESULTS: Of the 1,645 questionnaires sent, 1,420 (86.3%) were returned. The detailed cutaneous site and skin type were reliably obtained for 84.7% and 78.7% of questionnaires, and family history was known in 76% of instances. Prevalence of sun-sensitive subjects and patients with melanoma affected first-degree relatives, two target groups for early detection and surveillance campaigns were 54.1% and 3.4%, respectively. After translation into the 4th digit of the International Classification of Diseases for Oncology, the anatomical site codes from printed (original information) and pictorial support (body chart from the questionnaire) concurred for 94.6% of lesions. Discrepancies occurred mostly for lesions on the upper, outer part of the shoulder for which the clinician's textual description was "shoulder blade". This differential misclassification suggests under-estimation by about 10% of melanomas of the upper limbs and an over-estimation of 5% for truncal melanomas. Sites of highest melanoma risk were the face, the shoulder and the upper arm for sexes, the back for men and the leg for women. Three major features of this series were: (1) an unexpectedly high RMD for the face in women (6.2 vs 4.2 in men), (2) the absence of a male predominance for melanomas on the ears, and (3) for the upper limbs, a steady gradient of increasing melanoma density with increasing proximity to the trunk, regardless of sex. DISCUSSION AND CONCLUSION: The feasibility of retrieving the skin type, the precise anatomical location and family history of melanoma in a reliable manner was demonstrated thanks to the collaboration of Swiss dermatologists. Use of a schematic body drawing improves the quality of the anatomical site data and facilitate the reporting task of doctors. Age and sex patterns of RMD paralleled general indicators of sun exposure and behaviour, except for the hand (RMD=0.2). These Swiss results support some site or sun exposure specificity in the aetiology of melanoma.

Partial trisomy 20q in a newborn with dextrocardia.

A female newborn is reported with dextrocardia and a partial trisomy 20q, derived from a t(2;20) paternal translocation. The most discriminating findings of the condition include brachycephaly, bulging forehead, deep set eyes, short nose, large ears, dimpled chin, short neck and a heart defect. Previously reported patients with this rare chromosomal anomaly are reviewed.

Comparison of the site distribution of melanoma in New Zealand and Canada

A comparison of the site distribution of cutaneous malignant melanoma in New Zealand and Canada was performed. This series deals with 41,331 incident cases registered between 1968 and 1990 and is the largest to date to evaluate the influence of age and gender on the site distribution of melanoma. Site-specific, age-standardized rates per unit surface area and relative tumour density were assessed by gender and country and differences compared with statistical techniques adapted to this context. The age-standardized rates for all sites were higher in New Zealand than in Canada, the ratio being 3.2 for men and 3.8 for women. Occurrence of melanoma was denser for chronically than intermittently exposed sites in both New Zealand and Canada. The highest incidence rate per unit area was for the ears in men which was more than 5 times the rate for the entire body in each country. For each gender, melanomas were relatively commoner on the trunk and the face in Canada, and on the lower limbs in New Zealand. The variations in the site distribution were similar in each country and consistent with the effect of differential patterns of sun exposure between genders. Our results show that the levels of risk of melanoma between phenotypically comparable populations exposed to different amount of UV radiation vary in a site-specific manner, especially for intermittently exposed sites. This suggests that both environmental conditions and lifestyle factors influence the site distribution of melanoma in these two populations.

Combining ability of twelve maize populations

Genetic progress depends on germplasm quality and breeding methods. Twelve maize populations and their crosses were evaluated to estimate combining ability and potential to be included as source populations in breeding programs. Plant height, point of insertion of the first ear, number of ears per plant, number of grains per ear, root and stalk lodging and grain yield were studied in two locations in Brazil, during the 1997/98 season. Genotype sum of squares was divided into general (GCA) and specific (SCA) combining ability. Results indicated the existence of genetic divergence for all traits analyzed, where additive effects were predominant. The high heterosis levels observed, mainly in Xanxerê, suggested the environmental influence on the manifestation of this genetic phenomenon. Populations revealed potential to be used in breeding programs; however, those more intensively submitted to selection could provide larger genetic progress, showing the importance of population improvement for the increment of the heterosis in maize.

Patogeenisen Yersinia enterocolitican korkea esiintyvyys sian sydämen, maksan, munuaisten ja korvien pinnalla

Artikkeli on osa Hertta Pulkkisen syventävien opintojen projektityötä

Failure to thrive in a girl born into a family affected by familial dysalbuminemic hyperthyroxinemia

Autosomal dominant familial dysalbuminemic hyperthyroxinemia (FDH)is characterized by modified human serum albumin (HSA) inducing asubstantially higher affinity for thyroxine (T4). Histidin or prolinsubstitution on residue R218 produces localized conformationalchanges of HSA creating additional room for T4 binding, leadingto 14-20 fold normal total T4 (TT4) levels. Affected individuals areconsidered euthyroid. Our patient is an 18 months-old swiss girl bornto a mother known for the rare R218P mutation in the HSA gene.She presented with severe failure to thrive (height -2.92 SD, weight-3.6 SD), habitual hip dislocation without anatomical anomaly, latefontanelle closing and protruding ears. Psychomotor development isslightly retarded. Thyroid function testing confirmed extremely high TT4(1446.0 nmol/l) levels, which are similar to her brother's values (1534.4nmol/l and 1757.6 nmol/l respectively). Free T4 seems slightly elevated(26 pmol/l), probably due to methodological reasons. TSH (0.92 mU/l),free T3 (4.4 pmol/l) and thyroxin binding globulin (32 mg/l) are withinthe normal range. Her two half-brothers, affected by the samemutation, are now 18.7 (P1) and 16.6 (P2) years old and wereoriginally described by S. Pannain et al. in 2000. Both werecharacterized by growth retardation (-2.1 and -2.2 SD) before the ageof 4 years. P1 has reached a normal adult height (-0.4 SD) and P2has caught up to normal growth (-0.68 SD) with moderate bonematuration delay. Pubertal development and anterior pituitary functionare adequate. Primary growth and developmental retardation in thefirst years of life with adequate catch-up seem to be a distinctcharacteristic in FDH with R218P mutation. Hip dislocation is typicallyseen in other situations associated to thyroid disorders, like Downsyndrome. These findings might be explained by altered early thyroidhormone utilization in children with FDH.

Comparison of flag leaf and ear photosynthesis with biomass and grain yield of durum wheat under various water conditions and genotypes

Photosynthetic activity of cereals has traditionally been studied using leaves, thus neglecting the role of other organs such as ears. Here, we studied the effects of water status and genotypes on the photosynthetic activity of the flag leaf blade and the ear of durum wheat. The various parameters related to the photosynthetic activity were analysed in relation to the total above-ground plant biomass and grain yield at maturity. Four local varieties plus two cultivars adapted to the semiarid areas of South Morocco were grown in pots in a greenhouse. Five different water treatments were maintained from the beginning of stem elongation to maturity, when shoot biomass and grain yield were recorded. The net photosynthesis (A), stomatal conductance (gs) and transpiration (T) of the ear and the flag leaf were measured at anthesis. In both organs these factors decreased significantly with water deficit, whereas the A/T and A/gs ratios increased. The genotype effect was also significant for all traits studied. Whole-organ photosynthesis was much higher in the ear than in the flag leaf in well-watered conditions. As water stress developed, photosynthesis decreased less in the ear than in the flag leaf. Whole-ear photosynthesis correlated better than flag leaf photosynthesis with biomass and yield. Nevertheless, the relationships of the whole flag leaf with biomass and yield improved as the water stress became more severe, suggesting a progressive shift of yield from sink to source limitation. For all water regimes the ratios A/gs and A/T of the ear also showed a higher (negative) correlation with both biomass and yield than those of the flag leaf. The results indicate that the ear has a greater photosynthetic role than the flag leaf in determining grain yield, not only in drought but also in the absence of stress.

Can MRI replace CT in evaluating semicircular canal dehiscence?

BACKGROUND AND PURPOSE: Patients with symptoms of semicircular canal dehiscence often undergo both CT and MR imaging. We assessed whether FIESTA can replace temporal bone CT in evaluating patients for SC dehiscence. MATERIALS AND METHODS: We retrospectively reviewed 112 consecutive patients (224 ears) with vestibulocochlear symptoms who underwent concurrent MR imaging and CT of the temporal bones between 2007 and 2009. MR imaging protocol included a FIESTA sequence covering the temporal bone (axial 0.8-mm section thickness, 0.4-mm spacing, coronal/oblique reformations; 41 patients at 1.5T, 71 patients at 3T). CT was performed on a 64-row multidetector row scanner (0.625-mm axial acquisition, with coronal/oblique reformations). Both ears of each patient were evaluated for dehiscence of the superior and posterior semicircular canals in consensual fashion by 2 neuroradiologists. Analysis of the FIESTA sequence and reformations was performed first for the MR imaging evaluation. CT evaluation was performed at least 2 weeks after the MR imaging review, resulting in a blinded comparison of CT with MR imaging. CT was used as the reference standard to evaluate the MR imaging results. RESULTS: For SSC dehiscence, MR imaging sensitivity was 100%, specificity was 96.5%, positive predictive value was 61.1%, and negative predictive value was 100% in comparison with CT. For PSC dehiscence, MR imaging sensitivity was 100%, specificity was 99.1%, positive predictive value was 33.3%, and negative predictive value was 100% in comparison with CT. CONCLUSIONS: MR imaging, with a sensitivity and negative predictive value of 100%, conclusively excludes SSC or PSC dehiscence. Negative findings on MR imaging preclude the need for CT to detect SC dehiscence. Only patients with positive findings on MR imaging should undergo CT evaluation.

Long diagnostic delay in Crohn's disease is associated with complicated disease course and increased operation rate

Background and Aims: The impact of d iagnostic delay ( a period from appearance of f irst s ymptoms t o diagnosis) o n the clinical c ourse o f Crohn's disease (CD) i s unknown. W e examined whether length of d iagnostic delay a ffects d isease outcome. Methods: Data from the Swiss IBD cohort study were analyzed. T he frequencies of o ccurrence of b owel s tenoses, internal fistulas, perianal f istulas, and CD-related surgery at distinct i ntervals a fter C D diagnosis (0 - < 2 , 2 - < 6,  6 years) were c ompared f or g roups o f patients w ith different length of d iagnostic delay. Results: T he data from a g roup o f 200 CD patients with long diagnostic delay (> 24 months, 76th - 100th p ercentile) were c ompared to t hose from a group of 4 61 patients with a short diagnostic delay ( within 9 months, 1st - 50th p ercentile). T reatment r egimens d id n ot d iffer between t he two groups. Two years following diagnosis, p atients with long diagnostic delay presented more frequently with bowel stenoses (25% vs. 13.1%, p = 0.044), internal fistulas (10% vs. 2%, p = 0.018), perianal f istulas ( 20% vs. 8 .1%, p = 0.023) a nd more frequently underwent intestinal surgery (15% vs. 5 .1%, p = 0.024) t han patients with short diagnostic delay. Intestinal surgery was a lso m ore frequently p erformed  6 y ears after diagnosis in t he group with long d iagnostic delay ( 56.2% vs. 42.3%, p = 0.005) w hen compared to t he g roup with short diagnostic delay. Conclusions: L ong diagnostic delay i s associated with worse o utcome c haracterized by t he development o f increased bowel damage, n ecessitating more frequently operations in t he years following CD d iagnosis. Efforts should be undertaken to shorten the diagnostic delay.

Relationship between grain colour and preharvest sprouting-resistance in wheat

Since red alleles (R) of the genes that control grain colour are important for the improvement of preharvest sprouting resistance in wheat and there are three independently inherited loci, on chromosomes 3A, 3B and 3D of hexaploid wheat, it is possible to vary the dosage of dominant alleles in a breeding program. The objective of this work was to evaluate the dosage effect of R genes on preharvest sprouting, in a single seed descent population, named TRL, derived from the cross between Timgalen, white-grained wheat, and RL 4137, red-grained wheat. The study was carried out using sprouting data in ripe ears obtained under artificial conditions in a rainfall simulator over three years. According to the results there is a significant effect on preharvest sprouting provided by colour and a weaker effect of increasing R dosage. However, the significant residual genotypic variation between red lines and all lines (reds and whites) at 0.1% level showed that preharvest sprouting was also controlled by other genes. There are no significant correlations between sprouting and date of ripeness or between ripeness, R dosage and colour intensity.

Further delineation of the facial 13q14 deletion syndrome in 13 retinoblastoma patients.

Thirteen years ago, Motegi and colleagues (J Med Genet 1987;24:696-697) summarized the specific facial phenotype of six Japanese retinoblastoma patients with interstitial 13q14 deletions. Among a series of 228 propositi with retinoblastoma referred to the Lausanne Retinoblastoma Clinic for treatment and genetic counseling between 1986 and 1997, 13 (5.7%) were diagnosed with a cytogenetic de-novo 13q14 deletion. We confirm the presence of the reported facial phenotype in our population of Caucasian patients and describe additional clinical traits, thus extending the facial phenotype associated with the 13q14 deletion. Del(13q14) comprises, among others, cranial anomalies, frontal bossing, deeply grooved and long philtrum, depressed and broad nasal bridge, bulbous tip of the nose, thick lower lip, thin upper lip, broad cheeks, and large ears and lobules. Recognition of this particular facial appearance was instrumental in the genetic diagnosis of 13q deletions and in the presymptomatic diagnosis of retinoblastoma in a significant number of our cases. Identification of this phenotype in a retinoblastoma patient allows for efficient diagnosis of recurrence in his progeny and/or sibship, while its ignorance will compromise genetic counseling due to the possible difficulties in detecting large deletions by standard molecular mutation analysis. Recognition of this syndrome in newborns without known familial risk for retinoblastoma is even more important as it is a clear warning sign that indicates immediate ophthalmic examination.

Real-time full field laser Doppler imaging.

We present a full field laser Doppler imaging instrument, which enables real-time in vivo assessment of blood flow in dermal tissue and skin. This instrument monitors the blood perfusion in an area of about 50 cm(2) with 480 × 480 pixels per frame at a rate of 12-14 frames per second. Smaller frames can be monitored at much higher frame rates. We recorded the microcirculation in healthy skin before, during and after arterial occlusion. In initial clinical case studies, we imaged the microcirculation in burned skin and monitored the recovery of blood flow in a skin flap during reconstructive surgery indicating the high potential of LDI for clinical applications. Small animal imaging in mouse ears clearly revealed the network of blood vessels and the corresponding blood perfusion.