The HGAR1 familial hypercholesterolemia pedigree

Data on 232 members of a single pedigree, descended from two pairs of original parents, were made available to the participants of Genetic Analysis Workshop 8 (GAW8). In addition to information concerning age and sex, measurements for 10 quantitative traits and genotypes at 22 polymorphic marker loci were also provided for a subset of 193 of these family members. © 1993 Wiley-Liss, Inc.     

Infantile Digital Fibroma Treated With Mohs Micrographic Surgery

BACKGROUND: Infantile digital fibroma (IDF) is a rare benign fibrous tumor of childhood that frequently recurs despite local excision. Conservative, nonsurgical management may result in regression and/or joint deformity. OBJECTIVE: To describe the histologic features of IDF and discuss a case excised using Mohs micrographic surgery (MMS). METHODS: Case report and review of the clinical, histologic, and ultrastructural features. RESULTS: Characteristic inclusion bodies of actin were identified with hematoxylin and eosin, Masson's trichrome, and rapid actin immunostain. The tumor was debulked and the majority was removed after one stage of MMS, except where the deep margin approached the joint space. The defect healed by secondary intention. At 2 years the patient had no recurrence or functional joint deformity. CONCLUSION: MMS is a surgical treatment option for IDF.     

Scabies

Scabies is an ectoparasite caused by the mite Sarcoptes scabiei var hominis , an obligate human parasite. There are about 300 million cases of scabies in the world each year. Common predisposing factors are overcrowding, immigration, poor hygiene, poor nutritional status, homelessness, dementia, and sexual contact. Direct skin-to-skin contact between 15 and 20 minutes is needed to transfer the mites from one person to another. The diagnosis suspected with a clinical history of itch, worse at night, affecting other family members, clinical distribution, and appearance. Definite diagnosis relies on microscopic identification of the mites, eggs, or fecal pellets with 10% potassium hydroxide, ink enhancement, tetracycline fluorescence tests, or mineral oil; other methods include: epiluminescence light microscopy and S. scabiei DNA. The most commonly used treatment modalities are permethrin and ivermectin. Persistence of symptoms for 2–6 weeks after successful treatment is common. Most recurrences are because of reinfection from untreated contacts.     

Familial risk of cancer among randomly selected cancer probands

Several investigators have reported that relatives of lung cancer probands have a greater-than-normal likelihood for developing some form of cancer. To evaluate whether this familial risk is general for probands with cancer at any site or limited to lung cancer probands, we did a case-control study in which probands having cancer affecting any body site were identified and their pedigree data were tabulated. Telephone interviews and a mailed questionnaire were used to obtain cancer histories and environmental exposures on the families of 41 lung cancer probands, 105 probands with cancer other than lung, and 127 spouse families. Cumulative tobacco exposure (P less than .05), occupational hazards (P less than .005), and age of the family relatives (P less than .0001) were found to be statistically significant predictors of cancer risk. With consideration given for these variables, we determined that siblings of lung cancer probands were at slightly greater risk of cancer of any kind (odds ratio [OR] = 1.43, P = .06) than siblings in the control group. Much of the elevated risk was attributable to an excess of lung cancer (OR = 2.49, P = .06). Siblings of non-lung/non-breast cancer probands were also determined to be at increased risk of lung cancer as well (OR = 1.61, P = .06). For parents, the risk was lower, although parental information may have been underreported.     

Models of adult day care: findings from a national survey

We examined a nationally representative sample of 60 adult day care centers to describe the state of this evolving care modality after a decade's growth. Results indicate that day care centers can be categorized into three models of care, each of which serves a distinctive subpopulation. Model appropriateness was tested with analysis of variance of differences in participant characteristics. Services, staffing, costs, and other program features are contrasted among the three models.     

Combining two-point genetic linkage analyses using mapping functions

A likelihood ratio statistic is proposed for combining two-point genetic linkage analyses when the two-point analyses are between a trait and a well-defined map of markers. It is assumed that the two-point analyses are independent, as in the case of choosing only the most informative marker per family. The asymptotic distribution of the likelihood ratio statistic is derived under the null hypothesis of no linkage of the trait with a map of 2 markers, with intermarker genetic distance δ. This distribution is shown to be a chi-square mixture distribution with mixing probability depending on δ and the assumed mapping function. We use this asymptotic result to approximate the distribution of the likelihood ratio statistic for the more general case of more than 2 markers. Simulation results indicate that this may be reasonable. Power is evaluated by simulations and results indicate that this approach, which constrains the intermarker distances to their known values, tends to be more powerful than other methods proposed in the literature. © 1994 Wiley-Liss, Inc.     

Microdochectomy for single-duct discharge from the nipple

Microdochectomy has been the accepted treatment for single-duct nipple discharge. Review of 97 consecutive patients undergoing microdochectomy between 1980 and 1987 revealed a total of eight patients with ductal carcinoma in situ. All of these had pre-operative mammography, results of which were highly suspicious of malignancy in six patients. Tiny foci of ductal carcinoma in situ were found in the two patients with normal mammograms. We suggest an expectant policy in cases where the mammogram is normal, omitting routine microdochectomy.     

Amaurosis fugax in young people.

Nine young adults (median age 19.5 years) who suffered from amaurosis fugax (AF) are described. The attacks of AF were short in duration and preceded by premonitory symptoms in five cases and by a migrainous headache in two. In five patients the visual loss progressed in a lacunar pattern unlike the 'curtain' pattern characteristic of AF in older patients. Investigation revealed no evidence of an embolic or atheromatous aetiology. In two cases a minor abnormality was found on echocardiography. We conclude that AF in young adults has a different clinical pattern and may have a different aetiology, possibly migrainous, compared with that seen in older patients. The pattern of visual loss in some of the cases suggests that the choroidal circulation rather than the retinal circulation is primarily affected.