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.     

Keratoameloblastoma: a tumor sui generis or a chimera?

The term keratoameloblastoma has been used to describe a histologically heterogeneous group of ameloblastoma variants which have in common the formation of keratin by the ameloblastomatous epithelium. The English language literature contains reports of only 12 cases of keratoameloblastoma, of which 4 cases exhibited a papilliferous component. We report a unique tumor that we believe falls within the broad histopathologic spectrum of keratoameloblastoma. We review the key clinical and histopathologic features of the previously reported cases of keratoameloblastoma and present an additional case that presented as an expansile, radiolucent lesion with internal opacification between the roots of teeth in the left anterior maxillary alveolar ridge of a 45-year-old white male. There is wide variation in the histopathologic appearance of cases reported under the appellation keratoameloblastoma. Our case exhibited a histopathologic feature shared by only 2 of the previously reported cases, notably islands and anastomosing cords of epithelium forming lamellated, pacinian-like stacks of parakeratin that extruded into the collagenous tumor stroma without eliciting a foreign body response. Due to the small number of reported cases, we are unable to accurately assess whether the biologic behavior of keratoameloblastoma differs from other histologic types of ameloblastoma.     

The symptoms of varicose veins: difficult to determine and difficult to study.

OBJECTIVES: To investigate the activities which may exacerbate symptoms in patients with varicose veins. METHODS: Questionnaires sent to patients before clinics and at least six months later. RESULTS: Both questionnaires were returned by 149 of 203 patients (74%) but only 124 contained adequate data for comparison--55 from patients who had surgical treatment and 69 who had no surgery. At initial presentation, worsening of discomfort attributed to varicose veins was common during (58%) or after (48%) standing and in hot weather (44%), but less when sitting with the feet down (31%), and after (31%) or when walking (19%). Surgery significantly reduced the total number of symptoms reported by patients at follow-up (p<0.02). However, none of the symptoms reported during specific activities was significantly lessened by surgery compared with no treatment--possibly because the attrition of patients during the study resulted in small numbers for analysis. CONCLUSIONS: Symptoms are a common indication for treating varicose veins and it is therefore important to be sure that they are due to the veins, rather than other causes. This report highlights traditional and logical questions which may help to identify symptoms caused by varicose veins but illustrates the difficulty of validating them.     

Phonological features of child African American English.

The production of phonological features of African American English (AAE) was examined for 64 typically developing African American children in the 2nd through the 5th grade. Students read aloud passages written in Standard American English. Sixty of the students read the passages using AAE, and 8 different phonological features were represented in their readings. Phonological features were more frequent than morphosyntactic features. The findings as a whole support use of the taxonomy developed for this investigation in characterizing the phonological features of child AAE.     

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle

Human Molecular Genetics     

Complications of choledochal cysts in adulthood

Choledochal cyst is a well-recognised entity, presenting primarily in infants and young children. Where symptoms are delayed until adulthood, associated hepatobiliary pathology may complicate the presentation. These problems may be aggravated by previous treatment with bypass surgery rather than resection. We report seven cases from our recent experience presenting with complications in adulthood. These included cholangitis, hepatic abscess, pancreatitis and malignancy within the cyst. Two patients presented during pregnancy. These complications and their implications for management are discussed.