Tay-Sachs disease carrier screening: a 21-year experience

This paper presents the findings of a community-based carrier screening program for Tay-Sachs disease, initiated on the University of Wisconsin-Madison campus in 1978. The Madison Community Tay-Sachs Screening Program (MCTSSP) is a collaborative, interdisciplinary program that organizes and conducts periodic screening for Tay-Sachs disease (TSD) for the purpose of identifying Tay-Sachs carriers. We present and analyze data on carrier detection with regard to various demographics, including family history of TSD, ancestry, gender, medication exposure, and illness. Individuals participating in the MCTSSP between 1978 and 1999 were primarily of the target population, and the carrier rate was within the expected range (1/25). Despite aggressive publicity efforts and a well-established program, attendance at the screens has declined. A recent survey of Jewish undergraduate students at the University of Wisconsin-Madison showed poor recall of family screen history and carrier status and reinforced the perception that utilization of the Madison screening program has been low. Ways to increase awareness of and interest in carrier screening for TSD are explored.     

Polyurethane implants: a 6-year review of 416 patients

The author reviews 6 years of experience and 416 patients in whom polyurethane implants were used for augmentation and reconstruction of the breast. As with many other plastic surgeons, early use was confined to "salvage cases." Owing to the impressive results, use was extended to routine augmentation. Polyurethane implants are now used exclusively for aesthetic breast surgery. Results are evaluated for replacement of gel capsules and simple and radical mastectomy reconstruction. Gel capsules (Baker stages III to IV), in which prostheses were removed and replaced with polyurethane-covered implants, improved in 29 of 32 patients (87 percent). For reconstruction, placement of polyurethane implants in unscarred situations gives far superior results than following repeated procedures. The incidence of infection is no higher than with gel implants. Removal without capsulectomy was not a problem in most instances. However, on two recent occasions capsulectomy was extremely difficult.     

Snowmobile-related deaths in Ontario: a 5-year review.

OBJECTIVES: To investigate the demographic characteristics and circumstances surrounding fatal snowmobile accidents in Ontario, to examine the risk factors and to observe any fatality trends over the study period. DESIGN: Case series. PATIENTS: All 131 people who died accidentally while operating a snowmobile in Ontario from 1985-86 to 1989-90. Records were obtained from the chief coroner''s office; registration data were obtained from the Ministry of Transportation. RESULTS: Although the absolute number of deaths increased each year, owing to a rapid increase in the number of registered snowmobiles, the risk of death from snowmobile accidents remained relatively constant. Deaths occurred most frequently in northeastern Ontario. Youths and men predominated among the victims. Fatal accidents occurred more often on lakes (in 66% of the cases in which this information was known) than on roads (in 26%) or trails (in 8%). Weekend fatalities predominated, and deaths occurred most often during times of suboptimal lighting (from 4 pm to 8 am). The driver was killed in 84% of the cases in which the person''s role was known. Alcohol use before death was implicated in 69% of the cases, the level exceeding the Ontario legal limit in 59%. CONCLUSION: Snowmobile-related deaths result from factors that are generally avoidable. Strategies need to be instituted to reduce the rate of these events.     

Cannibalism among phytoseiid mites: a review

Cannibalism, the killing and consumption of conspecific individuals, is a common and widespread phenomenon in the animal kingdom. Cannibalism in phytoseiid mites has been known for decades but until recently reports were mainly observational and experimental data were lacking. Recently, diverse aspects of cannibalism, such as life stage-related cannibalism and preference, nutritional benefits, the role of diet specialization, species discrimination, and kin discrimination were assessed and compared within and among diverse phytoseiid species. As a result, species of the family Phytoseiidae provide a rather well studied group with respect to cannibalism at the individual level. The present review aims at summarizing and canalizing the wealth of recent experimental data on cannibalistic phytoseiid mites and seeks to emphasize and discuss the behavioral and ecological significance of cannibalism. In an ideal case, it will stimulate studies on topics related to cannibalism that are currently underrepresented such as the consequences of cannibalism for population dynamics and species composition in a given habitat. Partitioned in six sections, the key determinants of cannibalism in phytoseiid mites are treated by extracting features that are common among species and, where applicable, by indicating the circumstances that minimize the costs and maximize the benefits of cannibalism. This revised version was published online in July 2006 with corrections to the Cover Date.     

Steroid hormones regulate programmed cell death: a review

Programmed cell death (PCD) is a physiologically active process which is essential for the proper functioning of any living tissue. The steroid hormones modulate the programme in the immunological and reproductive organs and tissues, such as the thymus gland, circulating thymocytes, uterus, vagina, testis, ovary and prostrate gland. The influence of steroid hormones on cell death is tissue specific; the same hormone can inhibit PCD in one tissue, and may promote PCD in another tissue. The roles of apoptosis and terminal differentiation have been examined, and the regulation of PCD by steroid hormones, assessed.     

Trisomy 21 and Down syndrome: a short review

Even though the molecular mechanisms underlying the Down syndrome (DS) phenotypes remain obscure, the characterization of the genes and conserved non-genic sequences of HSA21 together with large-scale gene expression studies in DS tissues are enhancing our understanding of this complex disorder. Also, mouse models of DS provide invaluable tools to correlate genes or chromosome segments to specific phenotypes. Here we discuss the possible contribution of HSA21 genes to DS and data from global gene expression studies of trisomic samples.     

Nasal reconstruction--beyond aesthetic subunits: a 15-year review of 1334 cases

A retrospective analysis was performed on 1334 patients who underwent nasal reconstruction between 1986 and 2001. The senior author performed all reconstructions in this series after Mohs' histographic excisions. Only secondary reconstructions were performed without a preceding Mohs' excision. Methods of reconstruction, number of operations per patient, locations of defects, and complications were recorded. Using preoperative and postoperative photographs, aesthetic results were reviewed. Basal cell carcinoma was the most common lesion, followed by squamous cancer and melanoma. The average age of the patients was 51 years. Cancers most commonly arose on the dorsum, ala, and tip. Of 1334 cases, a 1.9 percent recurrence rate was documented. The average time between surgery and clinical recognition of recurrence was 39 months. All recurrent lesions were reexcised by the Mohs' technique. Eighty-one percent of reconstructions were completed in three or fewer stages. Seventy-five percent of reconstructions were completed in two stages. Primary dermabrasion or primary laserbrasion using carbon dioxide or erbium lasers was used in nearly every case. Early secondary dermabrasion or laserbrasion was used in a few cases where indicated. A 1.2 percent revision rate was noted (16 patients). Thirteen partial flap necroses required revision. Three patients experienced dehiscence at the donor site of paramedian forehead flaps. A preferred philosophy toward nasal reconstruction is described. The goal is to achieve optimal cosmetic and functional results while minimizing stages and resection of healthy tissue. Six core principles are advocated that guide efficient and successful nasal reconstruction: (1) maximal conservation of native tissue is advised; (2) reconstruction of the defect, not the subunit, is advised; (3) complementary ablative procedures, such as primary dermabrasion, enhance the final result and decrease the number of revisionary procedures; (4) primary defatting also decreases the number of revisionary procedures; (5) when possible, the use of axial pattern flaps is preferred; and (6) good contour is the aesthetic endpoint.     

Mating systems among European passerines: a review

A review of the mating systems of 122 relatively well-studied European passerines (out of 172 species) is given. Of all species, 39% are polygynous and 25 of the 47 polygynous species are regular polygynists exceeding the limit of 5% polygyny in a population. Of 46 polygynous species, 63% are monoterritorial (having a maximum of one territory), the rest being polyterritorial (having a maximum of more than one territory). Regular polygyny is more common among polyterritorial passerines. Polygyny is frequently found among species breeding in open habitats (marshes, meadows, pastures and low shrubs). Polyterritorial species tend to have tropical winter quarters more frequently than monoterritorial species do. Colonial breeding is absent from the polyterritorial group. Monogamous male passerines participate more frequently in feeding nestlings than their polygynous counterparts do. Regular polygynists tend to be sexually dimorphic in plumage more often than infrequent polygynous passerines, and polyterritorial passerines similarly tend to be plumage dimorphic more often than monoterritorial species. Sexual size dimorphism was more pronounced in monoterritorial than in polyterritorial passerines.     

Targeting of cancer cell death mechanisms by resveratrol: a review

Cancer cell death is the utmost aim in cancer therapy. Anti-cancer agents can induce apoptosis, mitotic catastrophe, senescence, or autophagy through the production of free radicals and induction of DNA damage. However, cancer cells can acquire some new properties to adapt to anti-cancer agents. An increase in the incidence of apoptosis, mitotic catastrophe, senescence, and necrosis is in favor of overcoming tumor resistance to therapy. Although an increase in the autophagy process may help the survival of cancer cells, some studies indicated that stimulation of autophagy cell death may be useful for cancer therapy. Using some low toxic agents to amplify cancer cell death is interesting for the eradication of clonogenic cancer cells. Resveratrol (a polyphenol agent) may affect various signaling pathways related to cell death. It can induce death signals and also downregulate the expression of anti-apoptotic genes. Resveratrol has also been shown to modulate autophagy and induce mitotic catastrophe and senescence in some cancer cells. This review focuses on the important targets and mechanisms for the modulation of cancer cell death by resveratrol.

     

Mortality among patients treated for alcoholism: a 5-year follow-up.

During a 5-year follow-up of 154 male and female patients treated for alcoholism at the Donwood Institute, 22 deaths were recorded--almost 4 times the expected number. Typical causes were accidents, suicide, cirrhosis of the liver, cancers of the upper digestive and respiratory tracts and ischemic heart disease. Compared with other samples of alcoholics, unusually few deaths occurred during the first 2 years of follow-up, which suggests the importance of the post-treatment attention given to these patients and the need to greatly extend the duration of aftercare.     

Histocompatibility gene mutation rates in the mouse: a 25-year review

 Mutation rates of H2 and non-H2 histocompatibility genes in the mouse are examined over a 25-year period. Detected by skin graft rejections, the mutations were screened in inbred and hybrid mice from a continuously maintained and monitored colony and from a regularly supplied set of mice provided from the National Cancer Institute for monitoring of genetic integrity. Twenty-five H2 mutations were recovered, involving the K, D, L, and Ab loci, as well as over 80 mutations of non-H2 histocompatibility genes. Aside from a single allele at a single locus (H2-K ^b ), the spontaneous mutation rate of H2 class I genes appears to be equivalent to that found estimated for non-H2 histocompatibility genes, and comparable to rates reported for a variety of mouse genes. This is in contrast with previous suggestions that H2 genes mutate at orders of magnitude greater than do “average” mammalian genes. The discrepancy is attributed to the H2-K ^b gene which accounts for over half of all reported H2 mutations and which mutates spontaneously at a rate of 1–2×10^–4 per gene per generation. Furthermore, over half of the spontaneous H2-K ^b mutations result in a single mutant phenotype (the “bg” group) which involve similar changes at amino acid residues 116 and 121. Thus, the high spontaneous mutation rate for H2-K ^b appears to be the exception among major histocompatibility genes, rather than the rule. Received: 18 April 1997 / Revised: 22 May 1997     

Primary correction of unilateral cleft lip nasal deformity: a 10-year review

A 10-year follow-up of patients who underwent primary correction of their cleft lip nasal deformity is presented. These are the first 10 consecutive patients who were treated following a change in treatment plan in 1973. Primary correction of the cleft lip nasal deformity essentially consists in elevating the displaced alar cartilage at the time of lip repair. There has been no interference with nasal growth, and the position of the alar cartilages and nasal tip has been maintained.     

Hookworm-related anaemia among pregnant women: a systematic review

Background and Objectives

Hookworm infection is among the major causes of anaemia in poor communities, but its importance in causing maternal anaemia is poorly understood, and this has hampered effective lobbying for the inclusion of anthelmintic treatment in maternal health packages. We sought to review existing evidence on the role of hookworm as a risk factor for anaemia among pregnant women. We also estimate the number of hookworm infections in pregnant women in sub-Saharan Africa (SSA).

Methods

Structured searches using MEDLINE and EMBASE as well as manual searches of reference lists were conducted, and unpublished data were obtained by contacting authors. Papers were independently reviewed by two authors, and relevant data were extracted. We compared haemoglobin concentration (Hb) according to intensity of hookworm infection and calculated standardised mean differences and 95% confidence intervals. To estimate the number of pregnant women, we used population surfaces and a spatial model of hookworm prevalence.

Findings

One hundred and five reports were screened and 19 were eligible for inclusion: 13 cross-sectional studies, 2 randomised controlled trials, 2 non-randomised treatment trials and 2 observational studies. Comparing uninfected women and women lightly (1–1,999 eggs/gram [epg]) infected with hookworm, the standardised mean difference (SMD) was −0.24 (95% CI: −0.36 to −0.13). The SMD between women heavily (4000+ epg) infected and those lightly infected was −0.57 (95% CI: −0.87 to −0.26). All identified intervention studies showed a benefit of deworming for maternal or child health, but since a variety of outcomes measures were employed, quantitative evaluation was not possible. We estimate that 37.7 million women of reproductive age in SSA are infected with hookworm in 2005 and that approximately 6.9 million pregnant women are infected.

Conclusions

Evidence indicates that increasing hookworm infection intensity is associated with lower haemoglobin levels in pregnant women in poor countries. There are insufficient data to quantify the benefits of deworming, and further studies are warranted. Given that between a quarter and a third of pregnant women in SSA are infected with hookworm and at risk of preventable hookworm-related anaemia, efforts should be made to increase the coverage of anthelmintic treatment among pregnant women.     

Twin death and mourning worldwide: a review of the literature.

Cultural beliefs about the nature of multiples appear in the mourning practices of many civilizations. Ethnographic literature suggests common themes that echo modern concepts. Many societies viewed twins as fragile, likely to die without preferential or meticulously equal treatment. A shared soul between twins is a common tenet, and the death of one is often felt to herald the other's prompt demise. The close relationship between multiples influences funerary rites. Honor, fear and mysticism are often evident in rituals. Twin infanticide was widely practiced, yet mourning customs were still observed. Many peoples recognize the special status of multiples and their families after one, two or more die.