Aromatic L-Amino acid decarboxylase deficiency: A new case from Turkey with a novel mutation

Aromatic L-amino acid decarboxylase (AADC), a vitamin B6-requiring enzyme that converts L-dopa to dopamine and 5-hydroxytryptophan to serotonin. Deficiency of this enzyme results in developmental delay, muscular hypotonia, dystonia, involuntary movements, autonomic dysfunction, and oculogyric crises. We now report a 2-year-old Turkish boy with AADC deficiency confirmed by greatly reduced AADC activity in the plasma and by genetic studies. Mutation analysis revealed a homozygous mutation c.208C > T (p. His70Tyr) in exon 3 of the AADC gene which has not been described to date.     

Percutaneous single- and double-balloon aortic valvotomy in adolescents and young adults with congenital aortic stenosis

Percutaneous balloon aortic valvotomy was attempted in six consecutiveadolescents and young adults, (meanage 18 ± 5 years),with severe congenital aortic valvular stenosis. Peak systolicaortic valve gradient measurement and aortography was performedbefore and immediately after valvotomy, and a 1–6 monthsfollow-up. The single-balloon technique was used in two patientsand the double-balloon technique in four patients. After balloonvalvotomy the mean peak systolic aortic valve gradient (PSG)decreased from 122 ± 53 to 43 ± 20 mmHg (P >001). The haemodynamic improvement persisted at follow-up (PSG= 47 ±31 mmHg), except in one patient who had previouslyundergone aortic surgical valvotomy. One balloon valvotomy wasunsuccessful, presumably because of the selection of an inappropriatelysmall balloon. Two patients with critical aortic stenosis (PSG>165mmHg), who exhibited a thick aortic valve on echocardiographywith a relatively small aortic root and annulus, had a dramaticreduction in PSG. However, the degree of aortic regurgitationincreased significantly in both cases. The theoretical haemodynamicadvantage of the double versus the single balloon techniqueswas confirmed in one patient. We have demonstrated that percutaneousballoon aortic valvotomy using either the single- or double-balloontechnique is feasible in young adults with severe congenitalaortic stenosis. Further studies are required both to defineappropriate patients and the selection of balloon diameter andlength.     

Three-dimensional computed tomography is not indicated for the classification and characterization of calcaneal fractures

This study determined inter- and intra-observer reliability for measurement of the angles of Böhler and Gissane, for the decision between surgical or conservative management and for the three mostly used classification systems for calcaneal fractures with the use of 2D-CT imaging versus 2D- and 3D-CT imaging.     

Factors Affecting Job Satisfaction and Their Correlation with Educational Standards among Dental Assistants

A disparity exists in the educational qualifications of dental assistants working in various public and private institutions in Riyadh, Saudi Arabia. The aim of this study was to assess the influence of professional and personal characteristics on job satisfaction among dental assistants. A cross-sectional survey was performed among dental assistants using a 24-item self-administered questionnaire. Multinomial logistic regression was used to assess the relationship between overall job satisfaction and other variables. The overall response rate was 72.1%. Factor analysis suggested that five underlying factors were related to job satisfaction. The mean score for overall job satisfaction was 3.86 (satisfied) out of 5. Among the work environment factors, the highest mean score, 4.26 (satisfied), was obtained for quality of service, and the lowest mean score, 2.78 (neutral), was obtained for the perception of income. The income and general prospects of the profession was significantly associated with overall job satisfaction. This study suggests that for dental assistants, professional and personal life, quality of service, perception of income and prestige and self-respect are important factors for job satisfaction. Despite differences in professional formation standards, in general, the study participants were considerably satisfied with their jobs.     

Father involvement with three-to-four-year olds at home: giving fathers a chance

This study examined fathers' perceptions regarding their home-based activities (HBA) and the influence of fathers' demographic characteristics on their perceptions and practices at home. A total of 396 fathers completed a survey questionnaire describing their demographic information, perceptions and their practices regarding their involvement in HBA. Results indicated that fathers have moderate level of practice concerning their HBA, yet they have low perception of their actual practice at HBA. In addition, there was a statistical significance in HBA due to fathers' age, educational level and specialisation which had an influence on their perceptions as well. Recommendations and implications of future research were discussed.     

Measurement properties of the Work Limitations Questionnaire were sufficient among cancer survivors

Purpose

The purpose of this study was to determine reproducibility, validity, and responsiveness of the Work Limitations Questionnaire (WLQ) among cancer survivors.

Methods

A cohort of 53 cancer survivors completed the WLQ and other questionnaires at baseline, 4-week, and 6-month follow-up. We assessed internal consistency, intraclass correlation coefficient, standard error of measurement, floor- and ceiling effects and compared the WLQ with other constructs. For responsiveness, we assessed the following anchor-based measures: minimal important change (MIC) versus smallest detectable change (SDC) and area under the curve (AUC) of receiver operation characteristic (ROC).

Results

We found sufficient reproducibility at group level but not at individual level as the MIC (4.0) exceeded SDC at group level (3.1) but not at individual level (18.0). There was no indication of systematic bias or proportional bias. The internal consistency and construct validity for the WLQ and its subscales were sufficient or slightly less than sufficient. There was a floor effect for one subscale, but there were no ceiling effects. Responsiveness was sufficient with an AUC of a ROC of 0.65.

Conclusions

The WLQ is reproducible, valid, and responsive for use at group level among cancer survivors but not sufficiently reproducible for use at individual level.     

Lettuce necrotic leaf curl virus,a new plant virus infecting lettuce and a proposed member of the genus Torradovirus

A new virus was isolated from a lettuce plant grown in an open field in the Netherlands in 2011. This plant was showing conspicuous symptoms that consisted of necrosis and moderate leaf curling. The virus was mechanically transferred to indicator plants, and a total RNA extract of one of these indicator plants was used for next-generation sequencing. Analysis of the sequences that were obtained and further biological studies showed that the virus was related to, but clearly distinct from, viruses belonging to the genus Torradovirus. The name “lettuce necrotic leaf curl virus” (LNLCV) is proposed for this new torradovirus.     

Mammographic screening after the age of 65 years: Evidence for a reduction in breast cancer mortality

We evaluated whether regular mammographic screening of women aged 65 years or older affected breast cancer mortality. In Nijmegen, a population-based screening program for breast cancer was started in 1975, with biennial mammography for women aged 35–64 years. Since 1977, elderly women have also been participating. For the present case-control study, women were selected who were over 64 years of age at the most recent invitation. Eighty-two of them had died from breast cancer. For these cases, 410 age-matched population controls were selected. The ratio of breast cancer mortality rates of the women who had participated regularly (i.e., in the 2 most recent screening rounds prior to diagnosis) vs. the women who had not participated in the screening was 0.56 (95% Cl = 0.28−1.13). The rate ratio was 0.45 in the women aged 65–74 years at the most recent invitation (95% Cl = 0.20−1.02), whereas it was 1.05 in the women aged 75 years and older (95% Cl = 0.27−4.14). While the breast cancer survival rate of the non-participant patients was fairly equal to that of patients from a control population, the underlying incidence rate of breast cancer was higher in the participants than in the no-participants. Therefore, we conclude that bias was present, but that it had decreased our effect estimate. The real reduction in breast cancer mortality due to regular screening will be even larger. Regular mammographic screening of women over age 65 (at least up to 75 years) can reduce breast cancer mortality by approximately 45%. © 1996 Wiley-Liss, Inc.     

Isolated brachial artery aneurysm: a rare presentation of paediatric Behçet’s disease

Behçet’s disease is a rare disease characterised by recurrent oral ulcers, with systemic manifestations including genital ulcers, ocular disease, skin lesions, gastrointestinal disease, neurologic disease, vascular disease and arthritis. Most clinical manifestations of Behçet’s disease are believed to be due to vasculitis. The heterogeneous clinical spectrum is influenced by sex, ethnicity and country of residence. Vascular manifestation in the form of isolated large brachial artery aneurysm is rare in children. Treatment involves aneurysmorrhaphy to avoid rupture or ischaemic sequelae in addition to lifelong medical management to control vasculitis.