Cytogenetic analysis of tissues from patients with familial paragangliomas of the head and neck

Background. Paragangliomas of the head and neck are slow-growing tumors that originate from neural crest cells. Between 7% and 9% of these tumors have a familial occurrence. The suspected gene for familial paragangliomas (FP) is transmitted with an autosomal dominant mode of inheritance with incomplete penetrance, and appears to exhibit genomic imprinting. It has been demonstrated by family studies that individuals who inherit the gene(s) from their father will develop the disease. Through linkage analysis, the gene(s) for FP has been postulated to be located on the long arm of chromosome 11. The discovery of many different genes has been elucidated through the cytogenetic analysis of affected individuals who carry specific chromosome aberrations. This project was designed to look for chromosome abnormalities in several second-generation family members to further assist in the localization of the gene(s) for FP. Methods. This study involved the cytogenetic evaluation of lymphocytes, fibroblasts, and tumor cells of several second-generation family members from a three-generation family with FP of the head and neck to look for chromosome abnormalities generally, and for abnormalities of chromosome 11 specifically. Standard cytogenetic techniques were used for lymphocyte and fibroblast cultures. Tumor cells were cultured in a collagen matrix with F12 medium supplemented with 3% L-glutamine and 10% fetal calf serum. Results. There were no detectable abnormalities of chromosome 11 in any of the cells. However, nonrandom abnormalities of chromosomes 5 and 7 were seen in some of the tumor cells of one FP patient. To our knowledge, this is the first article which demonstrated the ability to successfully culture FP of the head and neck. © 1995 Jons Wiley & Sons, Inc.     

CURRENT CONCEPTS IN INFANT NUTRITION

Nutritional needs vary during the first year of life according to the infant's individualized pattern of growth and amount of physical activity. After delivery, the infant must make many physiologic adjustments, develop immunologic defenses, and take in adequate nutrients for survival. The type and consistency of foods change as the gastrointestinal system matures and becomes able to metabolize the components and excrete the needed metabolites of increasingly complex foods. The recommended dietary allowance for infancy is based on the amount of nutrients provided to healthy infants in human milk during the first six months of life and on the consumption of formula and increasing amounts of solid food during the second six months. The introduction of solid foods should parallel the developmental changes that occur within the central nervous system throughout the first year; these provide a level of readiness for the infant to manage foods of various textures from full liquid to soft. Even though significant technologic advances have led to changes in the way infants can be fed, human milk is still the optimal choice. Most women can be encouraged to breast-feed regardless of their own nutritional status or dietary intake. Contraindications can be managed on an individual basis. If women do not elect to breast-feed, suitable commercial formulas are available. The important issue in feeding is that of providing a variety of appropriately prepared foods offered in a nonjudgmental atmosphere so that the foundation is laid for the development of good food habits.     

A quantitative analysis of eye movements during the cover test – a preliminary report

The aim of this study was to carry out quantitative analyses of eye movements during the cover test on a group ( n = 57) of asymptomatic emmetropes. Eye movements were recorded during an automated cover test while subjects fixated a distance (3.4 m) and near (0.4 m) target. There was a significant difference between the amplitude of phoria measured after 2 s of occlusion compared to 10 s ( P < 0.01). The mean phoria after 10 s of occlusion was 0.1° (eso) for distance fixation and 1.6° (exo) for near fixation. The distribution was approximately normal for both distance and near fixation but the standard deviation was greater for near (2.0°) than distance fixation (1.4°). The pattern of eye movements during the recovery phase was more complex than is often assumed, in many cases consisting of a variety of saccadic and vergence movements involving both the covered and 'fixing' eye. The latency of the first recovery movement was significantly shorter for exophoric than esophoric deviations ( P < 0.01) and the latency of some recovery movements were very short (< 150 ms).     

Squamous cell carcinoma arising in recurrent odontogenic keratocyst: Case report and literature review

Background. Keratinizing odontogenic cysts of the mandible commonly have an aggressive clinical course, marked by multiple recurrences. Primary intraosseus carcinoma (PIOC) of the mandible is rare, and when it occurs it is often found to be arising in or closely associated with some type of cystic structure. Methods. A patient with squamous cell carcinoma arising from an odontogenic keratocyst is studied clinically, radiographically, and pathologically. Results. The patient who was documented to have an odontogenic keratocyst, 1 year later had a squamous carcinoma removed from the recurrent cyst. Conclusion. We report the occurrence of squamous cell carcinoma arising from a recurrent odontogenic keratocyst, which has not previously been documented in the literature. The literature on this subject is reviewed. © 1994 John Wiley & Sons, Inc.     

Natural history of atopic dermatitis and its relationship to serum total immunoglobulin E in a population-based birth cohort study

We investigated the natural history of atopic dermatitis (AD) in a population-based birth cohort and assessed whether children at risk of visible eczema at 5 years of age can be identified from total immunoglobulin E (IgE) levels measured at 8, 12 and 18 months. AD data collected included a whole body examination for visible eczema at 49 months (4 years) and 61 months (5 years) of age and parent completed questionnaire data throughout their early lives. Children were divided into four groups based on their natural history of early AD: persistent (AD at 1, 6, 18, 30 and 42 months, n  = 34), intermittent early onset (before 18  months of age, n  = 495), intermittent late onset (18–42 months of age, n  = 273) and unaffected ( n  = 429). Visible eczema at 5 years of age was present in 12.2% (117/957) (95% confidence interval [CI] 10.1–14.3%) of the children. Levels of total IgE at 8, 12 and 18 months of age were associated with early onset of AD, but not with AD of later onset. For all four natural history groups, the geometric mean total IgE at 12 months was higher in those who subsequently had visible eczema than those who did not. However, the degree of overlap was such that total IgE at 12 months of age was a poor predictor of eczema at age five. A cutoff point of 78 kU/l had the highest positive predictive value for visible eczema at 5 years of age of 28.6%, with a sensitivity of 12% and specificity of 95%.     

Giving patients an audiotape of their GP consultation: a randomised controlled trial.

BACKGROUND: Providing patients with an audiotape of their medical consultation has been a relatively common practice in oncology clinics for some years. However, broader generalisability of the technique has yet to be examined. AIMS: To investigate the efficacy of providing patients with an audiotape of their consultation in a general practice setting. DESIGN OF STUDY: Randomised controlled trial: 95 experimental participants, 85 controls. SETTING: Routine surgeries run by two general practitioners (GPs) in two different health centres. METHOD: All patients attending GP appointments were eligible for inclusion. Patients were followed up by telephone 7-10 days later. RESULTS: More than half (61%) of the patients who received a tape listened to it. Among listeners, 64% rated the tape useful or very useful; 24% noticed information not heard in the consultation. Half of listeners (46%) said that their understanding of the consultation improved after listening to the tape. Half of the listeners (48%) shared the tape with others, of whom 71% found sharing helpful or very helpful. However, 21% of those who shared the information with others found this unhelpful or very unhelpful, suggesting that patients may need to be briefed on the potential risks of sharing. At follow-up a week later, it emerged that being given a tape had no effect on adherence with GPs' advice, nor on anxiety about conditions. CONCLUSION: Providing patients with an audiotape of their GP consultation was positively rated by many patients. Although there were no detectable clinical effects at follow-up, the technique merits further evaluation in general practice.