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[Potter-syndrome (author's transl)].

Bilateral renal agenesis (or dysplasia without any functioning kidney tissue) is almost constantly associated with a characteristic facial appearance. Extra-uterine existence is limited to less than 24 hours because of severe hypoplasia of the lungs. This pulmonary anomaly, together with the eventual positional bowing of the legs and feet and hands and perhaps some features of the "Potter face" may be attributed to the oligohydramnios which is a regular observation, but certain other findings like the obligatory epicanthic fold, swinging outwards to form a most peculiar "prominent" semi-circle below the orbital space, the dysplasia and low slanted position of the ears, the predominance of the boys, and the very high frequency of additional malformations and even total defects of the internal organs (especially of the urogenital and intestinal tract) can hardly be explained as being secondary resp. consequent upon the "foetal compression", resulting from the amniotic fluid deficit (due to anuria). Ten children, including a case of hermaphroditismus verus, with the full-scale Potter syndrome have been seen in this clinic during a six years period and are described and discussed in detail.

Abnormalities, Multiple↗

Measurement and replication: evaluating the consistency of eight U. S. fertility surveys.

This paper addresses the comparability of data from eight national fertility surveys conducted in the United States between 1955 and 1980. We examine the extent to which substantive conclusions about the levels and correlates of the timing of first birth vary across these data sources by comparing samples of women who were eligible to be included in more than one study. Results obtained from Ordinary Least Squares (OLS) and logistic regression analyses of several measures of timing indicate few study effects. Thus findings based on data from one survey can be replicated with comparable data from another. One notable exception is the relationship between contraceptive use prior to the first birth and the timing of that birth. The contraceptive variable appears to be poorly measured, leading to unstable estimates of the relationship. In general, our results suggest: (1) the feasibility of pooling data from the various surveys when modeling delayed childbearing; and (2) reasonable accuracy in assessing trends in the timing of first birth from multiple data sources.

Adolescent↗

An infant with trisomy 6q21 leads to 6qter.

A female who died shortly after birth with multiple congenital anomalies corresponding to the clinical picture of partial 6q trisomy is described and the autopsy findings are presented. The patient had an unbalanced chromosome complement with a 6q21 leads to 6qter duplication. Her mother is a balanced 46,XX,t(6;10)(q21;q26) carrier.

Chromosomes, Human, 6-12 and X↗

Beemer-Langer type short rib-polydactyly syndrome: report of two cases.

Two sibs who died shortly after birth had multiple congenital anomalies that included hydrops, narrow thorax, short limbs, and absence of polydactyly; therefore short rib (polydactyly) syndrome Beemer-Langer type was suggested. We report these cases and discuss the differentiation with Majewski type.

Abnormalities, Multiple↗

Differential fertility of mothers of twins and mothers of singletons: study in Limon, Costa Rica.

The reproductive performance of mothers of twins is of interest from an evolutionary perspective. Because mothers of twins have the potential of leaving a greater number of offspring, they could be favored by natural selection. At the same time, twin pregnancies are known to be associated with higher pre- and postnatal mortality. Thus mothers of twins at least have potentially higher fertility, a potential that may be hampered by greater mortality of twins. Here, I examine the completed fertility of 149 females, 50 years of age and older, from Limon, Costa Rica. In particular, the number of surviving children of mothers of twins and mothers of singletons at the time of the interview is compared. In this sample mothers of twins have a higher fertility at the end of their reproductive career. Their selection coefficient indicates that natural selection favors them through differential fertility.

Costa Rica↗

[Reproductive risk factors and sexual history associated with cervical cancer in Mexico].

Uterine cervical cancer is one of the principal public health problems in Mexico. The national mortality rate for cervical cancer in 1991 is estimated at 9.5 per 100,000 women, representing 4,194 deaths. In the period from August 1990 to December 1992, a case-control study was carried out that included 630 cases of histologically confirmed cervical cancer in eight Mexico City hospitals (two for people with no social security cover, four of the social security system and two private). As controls, 1,005 women were chosen from a random sampling of houses in the Mexico City metropolitan area. The main cervical cancer risk factors found in this study, adjusted for a multivariate model, were multiple normals births (with five births OR of 1.93 and 95% C.I. of 1.22-2.73) and a history of two or more sex partners (the OR with four or more sex partners was 5.56 and a C.I. of 2.3-13.4). In addition, there was an estimated lower risk of disease related to starting a sex life after 25 years of age (OR 0.41 with C.I. of 0.25-0.69) and to having cesareans as compared versus one normal birth (OR 0.28 and C.I. of 0.13-0.61). The information obtained is relevant since it identifies Mexican women with a high-risk of developing cervical cancer which can be used in planning programs for the early detection of cancer in this population.

Adult↗

[A population based study on factors related to bone mineral density in Wakayama Prefecture].

For evaluation of the community health program, 1543 inhabitants aged 40-79 years were recruited as cohort members in Miyama Village, Wakayama Prefecture. In this cohort, bone mineral density (BMD) of 400 subjects, 50 males and 50 females each randomly selected from each of four age strata, was measured at the lumbar spine and femur neck by dual energy X-ray absorptiometry. Information on exposure to possible risk factors was obtained from a self-administered questionnaire. The results were as follows; BMD at the lumbar spine and femur neck in women aged 70-79 who maintained an exercise habit (> or = one hour/week) was significantly higher than women with no exercise habit. The BMD at the femur neck in men aged 60-79 with alcohol drinking habit was significantly higher than those with no drinking habit. Significant correlation was not seen between milk intake or smoking and the BMD. BMD at the femur neck in women aged 60-69 with multiple child births (> or = 4) were significantly higher than those with fewer child births. The BMD in women aged 50-59 with earlier onset of menarche was higher than those with late menarche. Significant reduction in BMD of postmenopausal women was observed compared to premenopausal women analyzed after matching for age. The result of analysis of quantification method of the first type showed that age and menopause had a marked effect on BMD. Concerning lifestyles as other factors, a positive correlation was observed between BMD and drinking for men and exercise for women. These factors appear to be useful indicators of risk for osteoporosis.

Adult↗

Chemical-induced inflammation and inflammatory diseases.

It is now known that human exposure to certain chemicals e.g. benzene, halocarbons, ketones, nitrosamines, etc. can result in adverse health effects that are often not easily recognised as manifestations of chemical toxicity. These are inflammatory states, such as hepatitis, nephritis, scleroderma, and lupus, due to production of reactive oxygen species (ROS) through activation of cytochrome P4502E1 by the chemical, or by metabolism of the chemical to reactive intermediates and neoantigens which initiate immunotoxic effects. Intracellular glutathione (GSH), vitamins C, E and A protect against this ROS toxicity and inflammation; fasting and consumption of alcohol exacerbate it. Chronic inflammatory states may subsequently develop, including rheumatoid disease, atherosclerosis, diabetes, infertility and birth defects, multiple system organ failure (MSOF), Alzheimer's disease, and cancer.

Hazardous Substances↗

Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities.

We describe 13 unrelated children with abnormalities of somatic growth, face, brain, and connective tissue including vasculature. Although the condition in these children falls under the general group of disorders known as cutis marmorata telangiectatica congenita (CMTC), the constellation of abnormalities appears to constitute a distinct and easily recognizable phenotype within this general group. In contrast to most children reported with CMTC, children in this subgroup have a high risk for neurologic abnormalities, including developmental delay, mental retardation, megalencephaly, and hydrocephalus. Early recognition of this condition is important for appropriate surveillance for known complications and parental counseling.

Abnormalities, Multiple↗

Introduction of a donor exposure reduction programme for multiple-transfused very-low-birth-weight infants.

OBJECTIVE: To conduct an audit of the frequency of red cell concentrate transfusions (RCCTs) in infants of different weight categories, the donor exposure rate (DER), in these transfused infants and the volume of blood wasted during each transfusion, and to identify from this baseline information specific categories of infants who would benefit from the introduction of a limited donor exposure programme (LDEP). STUDY SETTING: Neonatal wards and neonatal intensive care unit (NICU), Tygerberg Hospital, Western Cape. STUDY DESIGN: A prospective descriptive study and comparison with a historic control group. SUBJECTS: Information on the birth weight, age at the time of each RCCT and number of blood donors to whom an infant was exposed were collected post factum for all infants admitted to the neonatal wards and NICU between May 1993 and May 1994. During this time, the red blood cell concentrate was supplied as single paediatric bags (180 ml) transfused within 14 days of donation. An LDEP was introduced in February 1995. With this system, red blood cells were supplied as triple packs: a main unit of 250 ml with three empty satellite packs allowing up to three separate transfusions. These were assigned to a specific infant and were to be transfused within 21 days of donation. A second system where one adult blood bag was divided into two 180 ml bags and assigned to one infant to be transfused within 35 days of donation was also assessed. RESULTS: Of the 7854 infants admitted during the first 12-month audit period, 387 (4.9%) received 977 RCCTs. Of these, 183 (47.3%) received one transfusion, 72 (18.6%) two transfusions, 51 (13.2%) three transfusions, 27 (7.0%) four transfusions and 54 (13.9%) five or more transfusions. Infants (N = 188) with a birth weight below 1500 g admitted to the NICU were identified as the group with the highest prevalence of RCCTs (68.6%), and it was therefore decided that in the prospective study such infants would qualify for the LDEP. A total of 81 infants was transfused with either the double (N = 47) or the triple bags (N = 34) over a 5-month period. The decrease in the mean DER (+/-SD) was clinically significant when the triple (1.9 +/- 0.8) (P = 0.0001) and the double bags (1.6 +/- 0.8) (P = 0.0001) were compared with the previous single-bag system (4.4 +/- 3.5). Of concern was the large mean volume of concentrated red cells (118.5 +/- 12.5 ml) wasted per transfusion with the single-bag system. CONCLUSIONS: This survey confirmed a high RCCT rate as well as a very high DER in very-low-birth-weight (VLBW) infants treated at a tertiary centre. By assigning a triple or double bag of red cells from one blood donor and extending the storage of blood for small-volume RCCTs in infants from 14 days to 35 days, donor exposure was reduced significantly. We urge the introduction of the multibag blood transfusion system and extended storage period of blood for small-volume RCCT for VLBW infants in South Africa.

Adult↗

Maternal mortality in twin gestations.

OBJECTIVE: To review various aspects of maternal morbidity and delivery complications leading to maternal death in twin gestations. STUDY DESIGN: Literature research. RESULTS: The incidence of maternal mortality associated with twin gestation is not known but can be estimated from a few community-based series and from studies on maternal morbidity related to twins. The combination of physiologic changes and perinatal pathologies that are either unique or more common in twin gestations (e.g., preeclampsia/eclampsia, need for tocolysis, anemia, abruption placentae, special delivery circumstances and cesarean section) is certainly increasing the maternal risk for serious morbidity and even mortality. CONCLUSION: Twin pregnancies should be included among the categories of pregnancy-related maternal death in order to learn how to eliminate avoidable mortality in twin gestations.

Abruptio Placentae↗

MRI findings in macrocephaly-cutis marmorata telangiectatica congenita.

We describe a child with macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC), cherry red macules, megalencephaly with hemifacial and segmental overgrowth, macrosomia, and cutis marmorata telangiectasia congenita of the trunk, and visceral and subcutaneous cavernous hemangiomas. The megalencephaly is accompanied by MRI findings of CNS dysgenesis with protrusion of the cerebellar tonsils through the foramen magnum (Chiari I), lumbar syrinx, and hydrops of the optic nerves. The report of this additional patient further confirms the newly described macrocephaly-cutis marmorata telangiectatica congenita as a distinct clinical phenotype.

Abnormalities, Multiple↗