Outcome measurement in the correction of mandibular asymmetry.

This study related clinical assessments of the severity of mandibular asymmetry with computerized measurements, obtained by digitizing mandibular outlines from standardized facial photographs. Four ratios were calculated: area (size), compactness (shape), perimeter (length of outline), and moment (center of area). When comparing clinical severity with computer assessment, significant correlations were observed; those for area and compactness were the highest. Sixteen patients subsequently underwent corrective surgery, and their ratios were used to relate the degree of improvement to the original severity of the asymmetry. The posttreatment ratios were also used to audit the outcome, comparing the patients' scores as a group with results previously obtained from patients with normal symmetry and mild asymmetry. Posttreatment outcomes were significantly different from the normal outline group but were comparable with outcomes of patients with mild mandibular asymmetry. The system provided a sensitive, noninvasive method of assessing treatment change and could be useful in providing an objective means of quantifying treatment outcomes.     

Reversible changes in cerebral activity associated with acidosis in preterm neonates

Murdoch Eaton DG, Wertheim D, Oozeer R, Dubowitz LMS, Dubowitz V. Reversible changes in cerebral activity associated with acidosis in preterm neonates. Acta Paediatr 1994;83:486–92. Stockholm. ISSN 0803–5253
Computerized online EEG monitoring in ventilated preterm infants less than 32 weeks' gestation enabled evaluation of the effect of acidosis on cerebral function. All episodes of acidosis were found to be associated with changes in the levels of cerebral activity. In 21 of the 32 episodes, EEG activity returned to pre-acidosis levels after therapeutic intervention. The duration of EEG abnormality was related to the severity of acidosis. However, the time to recovery of the EEG after therapeutic procedures was not related to duration of the EEG change.     

Partial replication of a DRD4 association in ADHD individuals using a statistically derived quantitative trait for ADHD in a family-based association test.

BACKGROUND: Previous research found an association between single nucleotide polymorphisms (SNPs) in the promoter region of DRD4 and statistically derived phenotypes generated from attention-deficit/hyperactivity disorder (ADHD) symptoms. We sought to replicate this finding by using the same methodology in an independent sample of ADHD individuals. METHODS: Four SNPs were genotyped in and around DRD4 in 2631 individuals in 642 families. We developed a quantitative phenotype at each SNP by weighting nine inattentive and nine hyperactive-impulsive symptoms. The weights were selected to maximize the heritability at each SNP. Once a quantitative phenotype was generated at each SNP, the screening procedure implemented in PBAT was used to select and test the five SNPs/genetic model combinations with the greatest power to detect an association for DRD4. RESULTS: One of the four SNPs was associated with the quantitative phenotypes generated from the ADHD symptoms (corrected p-values = .02). A rank ordering of the correlation between each of the ADHD symptoms and the quantitative phenotype suggested that hyperactive-impulsive symptoms were more strongly correlated with the phenotype; however, including inattentive symptoms was necessary to achieve a significant result. CONCLUSIONS: This study partially replicated a previous finding by identifying an association between rs7124601 and a quantitative trait generated from ADHD symptoms. The rs7124601 is in linkage disequilibrium (LD) with the SNPs identified previously. In contrast to the previous study, this finding suggests that both hyperactive-impulsive and inattentive symptoms are important in the association.     

Cystic fibrosis detection in high-risk Egyptian children and CFTR mutation analysis.

BACKGROUND: Knowledge about Cystic Fibrosis (CF) in Egypt is very limited. The objective of this study was to screen for CF in Egyptian children with suggestive clinical features and to identify causative genetic mutations. METHODS: Sixty-one patients from the Chest Unit, Cairo University Children's Hospital, Egypt, were included. Subjects presented with persistent or recurrent respiratory symptoms, failure to thrive, diarrhea and/or steatorrhea and unexplained persistent jaundice. Patients were screened using the CF Indicatortrade mark sweat test system (PolyChrome Medical, Inc., Brooklyn Center, MN). A quantitative sweat testing was conducted on 10 of the 12 positive patients. Seven probands and one sibling underwent molecular analysis by direct DNA sequencing of the coding region and of the intronic sequences adjacent to the 27 exons of the CFTR gene. RESULTS: Of 61 patients, 12 (20%) had positive sweat chloride screening. Ten of the 12 patients underwent quantitative sweat testing and were positive. Eight CFTR sequence changes were identified in seven affected probands and two were confirmed in one sibling by direct DNA sequencing. CONCLUSION: The study results suggest that CF is more common in Egypt than previously anticipated. Larger studies are warranted to identify the incidence, molecular basis and clinical pattern of CF in the Egyptian population.     

Human Herpesvirus 6 in Bronchalveolar Lavage Fluid after Lung Transplantation: A Risk Factor for Bronchiolitis Obliterans Syndrome?

Bronchiolitis obliterans syndrome (BOS) is the limiting factor to long-term survival after lung transplantation. Previous studies suggested respiratory viral tract infections are associated with the development of BOS. To identify the impact of virus detection in bronchoalveolar lavage (BAL) fluid, we analyzed BAL samples from 87 consecutive lung transplant recipients for human herpesvirus (HHV)-6, Epstein-Barr virus, Herpes simplex virus 1/2, Cytomegalovirus, respiratory syncytical virus and adenovirus by PCR. Acute rejection, BOS and death were recorded for a mean follow-up time of 3.27 +/- 0.47 years. Results of PCR analysis and other potential risk factors were entered into a Cox regression analysis of BOS predictors and death. Only acute rejection was a distinct risk factor for BOS of all stages, death and death from BOS. HHV-6 was detected in 20 patients. Univariate and multivariate analysis revealed that HHV-6 was associated with an increased risk to develop BOS > orb = stage 1 and death, separate from the risk attributable to acute rejection. Identification of HHV-6 DNA in BAL fluid is a potential risk factor for BOS. Our results warrant further studies to elucidate a possible causal link between HHV-6 and BOS.     

Expression of the protein related to Dan and Cerberus gene--prdc--During eye, pharyngeal arch, somite, and swim bladder development in zebrafish.

The protein related to Dan and Cerberus, or PRDC, is a secreted glycoprotein, which belongs to the DAN subfamily of bone morphogenetic protein (BMP) antagonists. In zebrafish, prdc is expressed initially around 17 hours postfertilization in the developing eyes and the first two pharyngeal arches. Expression in the eye starts in the outer layers of the optic cup. Later, prdc expression domains are juxtaposed at the edges of the optic cup surrounding the choroid fissure, then gradually becoming restricted to a small site in the ventral marginal zone. Prdc expression in the arch mesenchyme expands stepwise to the remaining posterior arches. Prdc is also detectable in the ventral part of the somites and the mesenchyme of the swim bladder. The relatively late appearance during development is a unique feature of Prdc among BMP antagonists. Moreover, the complexity of the prdc expression pattern suggests possible roles in eye development, pharyngeal arch remodeling, somitogenesis, and swim bladder organogenesis.     

Reflex tear ascorbate in Hong Kong Chinese subjects: method comparison and biological variation.

BACKGROUND: Tear ascorbate is important for corneal health. A rapid and simple method for measurement of ascorbate in tears is needed, and adequate knowledge of physiological variation of tear ascorbate is important to facilitate comparative studies of the effect of, for example, contact lens wear and environmental conditions and stresses. However, there are currently no data on physiological variation of tear ascorbate. This study validated a simple and speedy method for tear ascorbate and investigated between-eye and between-day variation in tear ascorbate in healthy young adults. METHODS: Yawn-induced reflex tears were collected from 32 healthy Hong Kong Chinese subjects and measured by both high-performance liquid chromatography (HPLC) and by an enzyme-linked colorimetric method known as FRASC (total ferric reducing (antioxidant) activity and ascorbate concentration measurement). For between-eye variation, yawn reflex tears were collected from each eye of the same 32 healthy subjects, and ascorbate was measured using HPLC; in a separate experiment for between-day variation, tears were collected on two separate days from 14 subjects, and ascorbate was measured by FRASC. RESULTS: Both HPLC and FRASC showed high precision, and results obtained using FRASC were not statistically different from those using HPLC; mean +/- SD were, respectively, 18.5 +/- 4.4 microM and 18.5 +/- 4.8 microM for HPLC and FRASC methods (p = 0.943). No significant between-eye difference in tear ascorbate was found (p = 0.386), and no significant between-day variation was found overall: mean +/- SD ascorbate was 20.0 +/- 6.2 microM on day 1 and 19.3 +/- 6.8 microM on day 2 (p = 0.772). However, between-day variation was large in seven of 14 subjects. CONCLUSION: FRASC is an acceptable alternative to HPLC for measurement of tear ascorbate. Tears for ascorbate investigation can be collected from either eye or, if necessary, from both eyes and pooled. However, tear ascorbate may vary widely from day to day in the same individual. The reasons for this variation require further study but may relate to differences in ascorbate supply or demand within the precorneal tear layer.