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PubMed1976

Aspirin and congenital malformations.

In a cohort of 50 282 gravidas and their offspring in the U.S.A., malformation rates were similar in the children of 35 418 women not exposed to aspirin, 9736 with intermediate exposure, and 5128 women heavily exposed during the first four lunar months of pregnancy. After controlling a wide range of potential confounding factors using multi-variate analysis, the observed and expected numbers for a variety of malformation categories were similar in all three comparison groups. The data suggest that aspirin is not teratogenic.

Abnormalities, Drug-Induced↗

PubMed2004

Demographic and reproductive factors associated with hemifacial microsomia.

OBJECTIVE: To identify demographic and reproductive risk factors for hemifacial microsomia in offspring. DESIGN: In a case-control study, maternal interviews were conducted within 3 years after delivery. Cases with hemifacial microsomia were ascertained from craniofacial centers in 26 cities in the United States and Canada. Controls were patients of the cases' pediatricians. Two hundred thirty-nine cases were compared with 854 controls. Odds ratios for various infant and maternal factors were estimated. RESULTS: Cases had lower birth weights, were more often male or a twin, and had more relatives with craniofacial malformations or hearing loss than controls. Case mothers had lower family incomes, had a lower body mass index, had more vaginal bleeding in the second trimester, and were more likely to have had a spontaneous abortion in a previous pregnancy. CONCLUSIONS: Nonmodifiable factors (age and parity) were not associated with hemifacial microsomia risk. Factors that are related to poverty (low family income, late recognition of pregnancy, and low body mass index) are associated with an increase in risk. High risk estimates for multiple pregnancies and second-trimester vaginal bleeding suggest a vascular etiology.

Case-Control Studies↗

PubMed2001

Low acute insulin secretory responses in adult offspring of people with early onset type 2 diabetes.

The offspring of Pima Indians with early onset type 2 diabetes are at high risk for developing diabetes at an early age. This risk is greater among those whose mothers were diabetic during pregnancy. To define the metabolic abnormalities predisposing individuals in these high-risk groups to diabetes, we conducted a series of studies to measure insulin secretion and insulin action in healthy adult Pima Indians. In 104 normal glucose-tolerant subjects, acute insulin secretory response (AIR) to a 25-g intravenous glucose challenge correlated with the age at onset of diabetes in the mother (r = 0.23, P = 0.03) and, in multiple regression analyses, the age at onset of diabetes in the father (P = 0.02), after adjusting for maternal age at onset and after allowing for an interaction between these terms. In contrast, insulin action (hyperinsulinemic glucose clamp) did not correlate with the age at onset of diabetes in the parents. To determine whether early onset diabetes in the parents affected insulin secretion in the offspring across a range of glucose concentrations, responses to a stepped glucose infusion were measured in 23 subjects. Insulin secretion rates were lower in individuals whose mothers had developed diabetes before 35 years of age (n = 8) compared with those whose parents remained nondiabetic until at least 49 years of age (n = 15) (average insulin secretory rates: geometric mean [95% CI] 369 [209-652] vs. 571 [418-780] pmol/min, P = 0.007). Finally, the AIR was lower in individuals whose mothers were diabetic during pregnancy (n = 8) than in those whose mothers developed diabetes at an early age but after the birth of the subject (n = 41) (740 [510-1,310] vs. 1,255 [1,045-1,505] pmol/l, P < 0.02). Thus, insulin secretion is lower in normal glucose tolerant offspring of people with early onset type 2 diabetes. This impairment may be worsened by exposure to a diabetic environment in utero.

Adipose Tissue↗

PubMed1994

Follow-up of pregnancies, infants, and families after multifetal pregnancy reduction.

OBJECTIVE: To evaluate the course of multifetal pregnancies and also the long-term pediatric and psychosocial follow-up of surviving offspring and their parents after selective reduction. DESIGN: Follow-up study. SETTING: University hospital and subject's homes. PATIENTS: Twenty-one couples with high-order multiple pregnancies resulting from infertility treatment were referred from all over the Netherlands. A total of 36 infants (15 twins and 2 triplets) were included in the follow-up. INTERVENTION: Pregnancy reduction by transabdominal approach at a median of 11 (9 to 13) weeks gestation. One assessment took place between the age of 9 months and 6 years after delivery. MAIN OUTCOME MEASURES: Pregnancy outcome, health of the infants, and psychosocial impact upon their parents after infertility treatment and the multifetal pregnancy reduction. RESULTS: Abortion within 4 weeks after pregnancy reduction did not occur in this series. Six infants (13.7%) died perinatally. Two infants (4.4%) died at the ages of 12 days and 3 months, respectively. Early preterm delivery was the cause of death in all cases. The development of the infants was appropriate to gestational age and birth weight. At follow-up, 14 couples disclosed at the time they were unaware of the risks and the consequences of infertility treatment. Nine couples indicated they had feelings of guilt after pregnancy reduction. These feelings, however, were not disclosed at the time of the interviews, during which none of the families showed either regret or distress about their decision. Two couples only occasionally experienced some grief and mourning reactions for the reduced fetuses. CONCLUSIONS: Pregnancy reduction is an acceptable option in the case of excessive multifetal conceptions after infertility treatment regimes. There are no adverse effects on either the infants and their families provided that the procedure is carefully planned and performed and the couples are given full support both before and after the procedure.

Female↗

PubMed1983

International Commission for Protection against Environmental Mutagens and Carcinogens. ICPEMC Working Paper 5/6. Perspectives in mutation epidemiology, 6. A 1983 view of sentinel phenotypes.

A sentinel phenotype is a clinical disorder or syndrome that (1) occurs sporadically as a consequence of a single, highly penetrant mutant gene, (2) is a dominant or X-linked trait of considerable frequency and low fitness, and (3) is uniformly expressed and accurately diagnosable with minimal effort at or near birth. Although 1828 autosomal dominant traits are known in human beings, 36 can be considered as candidate sentinel phenotypes, along with 5 X-linked disorders. Based on surveys of malformations in infants and children, 16 additional traits are proposed beyond previous lists. In Hungary, the 24 syndromes or defects with reliable manifestations in newborn infants occur with a frequency of 2.5-3.3 per 10 000 live births. As markers of human mutations, sentinel phenotypes have the advantage of representing germinal mutations that result in significant health problems. There are severe disadvantages that have, to date, prevented the launching of a field demonstration of the value of these phenotypes in mutation epidemiology. Agreement on a list of phenotypes has been delayed by continued recognition of two or more distinct genetic diseases within what was once thought to be a single disorder. For the same reason, most of the candidate sentinel phenotypes have not been assigned unique codes in the International Classification of Diseases. Each of the disorders is so rare and has features that overlap with so many other syndromes that highly trained clinical dysmorphologist and pediatric ophthalmologists would have to be engaged in any study. The sentinel phenotype approach, like other strategies in mutation epidemiology, would encounter problems with linkage among files of data, privacy, and access to sufficiently large populations. In contrast with the approach using multiple protein variants (as in the study of blood from offspring of survivors of the atomic bombs in Hiroshima and Nagasaki), the sentinel phenotype approach would likely be much less expensive and would encounter far fewer false attributions of paternity, but also would require a much larger study population. The best option for the present, in our opinion, is to broaden and sustain critical discussion of the approach. Perhaps the goal should be to plan a field demonstration by involving appropriate clinicians, epidemiologists, and public health officials. A pilot effort underway in Hungary may well give insight to applying the approach in a significantly larger population.

Chromosome Aberrations↗

PubMed1982

Duplication (5p13 leads to pter): prenatal diagnosis and review of the literature.

We describe a patient with a reciprocal translocation t(5,13) and her three offspring. The chromosome anomaly was ascertained after the birth of her first child, who had the cri-du-chat syndrome. Amniocentesis demonstrated the presence of a dup(5p). The anomalies affecting that fetus are described and compared with the reported phenotypes of dup(5p). The extent of clinical findings in the reported cases depends on the length of the duplicated portion. The larger the duplication (p11 leads to pter), the more pronounced are the clinical signs. Physical signs are nearly absent when 5p14 leads to ter is involved. Also, translocations affecting chromosome 5 have an increased abnormal outcome when compared to D/D Robertsonian translocations. This is the first instance of antenatal diagnosis of trisomy 5p.

Abnormalities, Multiple↗

PubMed1998

Ovarian function in superoxide dismutase 1 and 2 knockout mice.

Copper/zinc superoxide dismutase (SOD1) and manganese superoxide dismutase (SOD2) are the two major intracellular enzymes which inactivate superoxide radicals. SOD1 is present in both cytoplasmic and nuclear compartments whereas SOD2 is localized to mitochondria. Both enzymes are expressed in multiple tissues as well as ovaries of several species including humans and rodents. Dominant mutations in SOD1 are associated with amyotrophic lateral sclerosis. We have previously demonstrated that SOD2-deficient mice die within three weeks of birth due to oxidative mitochondrial injury in central nervous system neurons and cardiac myocytes. In this report, we demonstrate that female homozygous mutant mice lacking SOD1 can survive to the adult stage but are subfertile. Whereas breeding of 5 SOD1 heterozygote females produced an average of 1.0 litter/month with 8.6 offspring/litter (n = 31 litters), only 11 of 16 SOD1 homozygote mice over a 2-6 month period became pregnant averaging 0.23 litters/month with an average litter size of 2.7 (n = 21 litters). Histological analysis of the ovaries from SOD1-deficient mice often reveals many primary and small antral follicles but few corpora lutea. In addition, ovaries from postnatal SOD2-deficient mice, transplanted to the bursa of wild-type hosts, show all stages of folliculogenesis including corpora lutea and can give rise to viable offspring. These studies support an important role of SOD1 in female reproductive function and suggest that SOD2 is not essential for ovarian function.

Animals↗

PubMed1997

Sibship size and self-reported inhalant allergy among adult women. ALSPAC Study Team.

BACKGROUND: An association of allergic sensitization with small families and low birth order has been described and attributed to a protective effect of early infection. The influence of like-sex and unlike-sex siblings has not been investigated, although the severity of viral infections may be greater if acquired from unlike-sex siblings. OBJECTIVE: To investigate the association of self-reported inhalant allergy with family composition. METHODS: Reports of allergy to grass, dust or cats by 11042 pregnant women recruited to a longitudinal study of pregnancy and childhood in Avon, UK, were analysed in relation to respondent's age, maternal age and sibship composition (older and younger brothers and sisters) by multiple logistic regression. RESULTS: The prevalence of self-reported inhalant allergy decreased with increasing numbers of brothers (test for trend: P < 0.0001), but was unrelated to the number of sisters. The unadjusted prevalences for subjects with none, one, two and three or more brothers were 26%, 23%, 20% and 17%, respectively. The corresponding prevalences for numbers of sisters were 23%, 24%, 22% and 23%. After adjustment for total sibship size, offspring of older mothers were more likely to report allergy (test for trend: P < 0.001), but there was no association with position in the sibship. CONCLUSION: Although it is not possible to determine whether brothers specifically, or unlike-sex siblings in general, are inversely associated with inhalant allergy, these findings are consistent with the hypothesis that patterns of sibling interaction within young families influence the risk of future aeroallergen sensitization.

Adolescent↗

PubMed1999

What is a marmoset?

Callitrichid primates typically give birth to twin offspring that are somatic chimeras of cells derived from two products of conception. Each individual is thus the phenotype of two sibling genotypes, one of which may be more closely related to the germ line of the individual's parents than to the individual's own germ line. Chimerism could therefore help to explain the evolution of alloparental care and social suppression of reproduction in callitrichids. Placental chimerism may also have important implications for understanding kin interactions within the womb: on one side of the coin, the intimate juxtaposition of genotypes provides unique opportunities for antagonistic interactions between embryos; on the other side, chimerism could facilitate cooperation between sibling genotypes.

Animals↗

PubMed2026

Gene-Temperature Interactions and Risk of Childhood Acute Lymphoblastic Leukemia.

BACKGROUND: High ambient temperature in early pregnancy has been linked to an increased risk of childhood acute lymphoblastic leukemia (ALL). To better understand biological mechanisms, the current study evaluated potential interaction between temperature and genetic characteristics. METHODS: We used data from California birth records (1982-2008) and California Cancer Registry (1988-2011) to identify ALL cases (n=3,353) diagnosed ≤14 years of age and non-cancer controls (n=3,530) matched 1:1 on sex, race, ethnicity, and birth year and month. Weekly ambient temperatures throughout pregnancy were assessed on a 1-km grid around the birth address, while genetic data were available from a genome-wide association study using neonatal blood spots. We evaluated the association between ambient temperature and ALL risk by quartiles of established genetic risk score for ALL. Next, we formally tested gene-temperature interactions in the association with ALL, correcting for multiple testing, for genes previously identified with epigenetic changes due to both temperature and ALL. All analyses were adjusted for potential confounders. RESULTS: The elevated risk of ALL per 5 °C increase of weekly mean ambient temperature, confined to early pregnancy, was more pronounced among children with the lowest genetic susceptibility to ALL, especially among Latino children (first quartile: odds ratio [OR] = 1.50, 95% confidence interval [CI]: 1.14-1.97); fourth quartile: OR=1.03, 95% CI: 0.83-1.28). There were significant interactions (p<0.002) between ambient temperature and polymorphisms in BNC1 among non-Latino White children, and suggestive interactions (p<0.05) with TBPL2 and NRXN1 in the full population. CONCLUSIONS: Our findings suggest that there may be interactions between ambient temperature in early pregnancy and offspring genotype in the risk of childhood ALL. IMPACT: If replicated, these findings could help elucidate the biological mechanisms linking high ambient temperature in early pregnancy and the risk of childhood ALL.

Journal Article↗

PubMed1990

Perturbation of differentiated functions during viral infection in vivo. In vivo relationship of host genes and lymphocytic choriomeningitis virus to growth hormone deficiency.

Retarded growth and disordered glucose metabolism secondary to growth hormone (GH) deficiency are associated with persistent lymphocytic choriomeningitis virus (LCMV) infection of GH-producing cells in the anterior lobe of the pituitary gland. Infected C3H/ST mice, which are H-2k haplotype, become GH deficient, and LCMV replicates in most (more than 90%) of their GH-producing cells. In contrast, BALB/WEHI and SWR/J mice, which are H-2d and H-2q, respectively, do not develop this GH deficiency, and less than 20% of their GH-producing cells are infected by virus. Yet all three strains infected at birth with LCMV strain Armstrong (ARM) carry equivalent amounts of virus in their blood, brain, heart, kidney, liver, spleen, and thymus throughout life. Of five additional H-2k murine strains tested, C3H/HEJ and CBA/N mice develop this GH-like disorder, whereas neither AKR/J, B10/BR, nor BALB/KAE mice do, indicating that the H-2K haplotype does not control the GH susceptibility. Furthermore C3H/SW mice, which have the H-2b haplotype on the C3H background, develop the disease, again negating any correlation with H-2k but inferring that the C3H background is responsible. One half of the hybrid offspring produced by crossing the C3H/ST GH-deficient strain with BALB/WEHI-resistant mice develop the disease, but the trait is not sex linked. F1 hybrid backcrosses with the susceptible C3H/ST parental strain or resistant BALB/WEHI strain indicate the involvement of more than two genes. Hence the development of a GH deficiency by LCMV-infected C3H/ST mice is not linked to the MHC haplotype, is not sex linked, and is not due to a dominant gene. Multiple genes are involved and these are related to C3H background.

Animals↗

PubMed1991

Congenital malformations before and after the onset of maternal epilepsy.

A total of 222 pregnancies in 56 mothers were studied, 48 pregnancies occurred in 17 mothers before the onset of epilepsy (Group 1). The same group went on to develop epilepsy, receive anticonvulsants and further conceive 43 pregnancies (Group 1a). In the other 39 mothers 131 pregnancies occurred after the onset of epilepsy and while receiving anticonvulsants (Group 2). The incidence of major congenital malformations among live births was significantly higher in Group 2 (14.4%) when compared with all pregnancies in Groups 1 and 1a (1.2%), P less than 0.025 and in Group 1 alone (2.2%) P less than 0.05. There was no significant difference between Groups 1 and Group 1a. Age at first pregnancy in Group 1 was 18.9 years +/- 3.7 SD, which was significantly younger than Group 2, 21.7 years +/- 5.1 SD, p less than 0.05. The age of onset of epilepsy was significantly younger in Group 2 than in Group 1, 15.1 years +/- 6 SD vs 23.3 years +/- 4.6 SD, p less than 0.001. The duration of epilepsy was significantly longer in Group 2 compared with Group 1, 13.8 years +/- 8.7 SD vs 6.1 years +/- 2.6 SD, p less than 0.001. Patients on polytherapy had a significantly higher risk of major malformations compared to those on monotherapy, 20.2% vs 1.3%, p less than 0.001. Our data suggest that epileptic mothers with the highest risk of having offspring with major malformations were those with a long duration of epilepsy combined with exposure to multiple anticonvulsant drugs.

Abnormalities, Drug-Induced↗

PubMed1987

Maternal phenylketonuria. Review with emphasis on pathogenesis.

Maternal phenylketonuria (PKU) refers to fetal damage from PKU in the pregnant woman. The progeny from such pregnancies are almost always microcephalic and mentally subnormal and have an increased frequency of congenital heart disease and low birth weight. Treatment with a phenylalanine-restricted diet, if begun before conception, seems to protect the fetus. The degree of protection is much less if dietary treatment is delayed until the pregnancy is in progress. The origin of fetal damage in maternal PKU is not known. Due to placental concentration of amino acids, the fetus is exposed to a higher concentration of phenylalanine than that in the mother, but it is not certain that phenylalanine is the toxic agent. Animal models made hyperphenylalaninemic by the administration of phenylalanine, often accompanied by a phenylalanine hydroxylase inhibitor, do not reproduce the full maternal PKU syndrome; but fetuses and newborns from these models have had reduced growth of the body and brain, and offspring later may show evidence of impaired learning ability.

Abnormalities, Multiple↗

PubMed1987

Cryptophthalmos syndrome. Clinical and histopathological findings.

The clinical and histological findings in two cases of complete bilateral cryptophthalmos from two families are described. In one family, the genetic mode of transmission is most probably autosomal recessive. The parents were first cousins and from the ten deliveries only two children were alive. Seven offspring died soon after birth. At least two of these had complete bilateral cryptophthalmic features in addition to the described offspring. In the other family, the mode of transmission is unclear as the offspring was the first born of non-consanguineous parents with negative family history. Both cases showed similar external clinical appearance and anomalies. Chromosomal studies revealed normal female (first case) and male (second case) karyotypes. The latter, who died a few minutes after delivery, had bilateral agenesis demonstrating features compatible with Potter's syndrome. Apart from the complete covering of the eye globes with skin, the lack of eyebrows and eyelids, the two patients showed also similar histological ocular findings. The eyes in both cases demonstrated well developed posterior segment architecture including optic nerves, with a complete early arrest of anterior segment development and differentiation.

Abnormalities, Multiple↗

PubMed2002

Familial and second gastric carcinomas: a nationwide epidemiologic study from Sweden.

BACKGROUND: Familial risks in gastric carcinoma have been assessed mainly through case-control studies based on reported but not medically verified carcinomas in family members. Reliable data on familial risks are needed for prevention and clinical decisions. METHODS: The authors used the nationwide Swedish Family-Cancer Database on 10.2 million individuals and more than 34,000 gastric carcinomas to calculate standardized incidence ratios (SIRs) and 95% confidence intervals (CIs) for gastric carcinoma in offspring, from birth to 66 years old, by carcinomas in family members. In addition, SIRs for second gastric carcinomas were analyzed. RESULTS: Standardized incidence ratios for gastric carcinoma were 1.31 (95% CI, 0.97-1.70) and 1.47 (95% CI, 1.08-1.92) when a parent presented with gastric carcinoma or gastric adenocarcinoma, respectively. The risk was 1.59 (95% CI, 1.10-2.16) in offspring whose diagnosis was at ages older than 50 years. Offspring risk from parental corpus carcinoma was of borderline significance whereas that from cardia carcinoma was below unity. The sibling risk for gastric carcinoma was 3.16 (95% CI, 1.35-5.72) and 5.75 (95% CI, 2.07-11.26) when diagnosed before age 50. The population attributable proportion of familial gastric carcinoma was 0.45%. Risks for second gastric carcinomas were increased in men and women after esophageal and skin carcinomas, and after non-Hodgkin lymphoma. CONCLUSIONS: The data suggest that environmental factors, perhaps Helicobacter pylori infections are the main reason for familial clustering of gastric carcinoma. The population attributable proportion of familial gastric carcinoma is much lower than that cited in the literature. The patterns of multiple carcinomas suggest that immunologic factors modulate susceptibility to gastric carcinoma.

Adult↗

PubMed2006

Paternal age and birth defects: how strong is the association?

BACKGROUND: Although the association between maternal age and the risks of birth defects has been well studied, the evidence from population data linking paternal age with birth defects was limited and inconsistent. METHODS: We conducted a population-based retrospective cohort study of 5,213,248 subjects from the 1999-2000 birth registration data of the USA. Multiple logistic regressions were used to estimate the independent effect of paternal age on all birth defects and 21 specific defects groups after adjusting for potential confounding of maternal age, race, education, marital status, parity, prenatal care initiation, maternal smoking and alcohol drinking during pregnancy. RESULTS: A total of 77,514 (1.5%) birth defects were recorded in the study cohort. The adjusted odds ratios were 1.04 (1.01, 1.06), 1.08 (1.04, 1.12), 1.08 (1.02, 1.14) and 1.15 (1.06, 1.24), respectively, for infants born to fathers 30-35, 40-44, 45-49 and over 50 years (test for trend, P = 0.0155), when compared with those infants born to fathers aged 25-29 for any birth defect. Advanced paternal age was associated with increased risks of heart defects, tracheo-oesophageal fistulaoesophageal atresia, other musculoskeletal/integumental anomalies, Down's syndrome and other chromosomal anomalies. Fathers under 25 years of age were also at increased risks of spina bifida/meningocele, microcephalus, omphalocele/gastroschisis and other musculoskeletal/integumental anomalies. CONCLUSIONS: Infants born to older fathers have a slightly increased risk of birth defects. Young paternal age is also associated with slightly increased risk of several selected birth defects in their offspring. However, given the weak association, paternal age appears to play a small role in the aetiology of birth defects.

Adult↗

PubMed2002

Report from the National Transplantation Pregnancy Registry (NTPR): outcomes of pregnancy after transplantation.

The NTPR maintains an ongoing database to study the outcomes of pregnancies in female transplant recipients as well as those pregnancies fathered by male transplant recipients. Recipients are entered into the database by completing. a single page questionnaire. There is steady follow-up of recipients and their offspring. While the majority of pregnancy outcomes have occurred in kidney recipients, data continue to accrue in the other types of organ recipients. KIDNEY: A small percentage of pregnancies in female kidney recipients are complicated by rejection with poorer outcomes with respect to both maternal graft function and their newborn. Other analyses this year focused on outcomes of recipients with systemic lupus erythematosus and those with multiple gestations. It was observed that recipients with systemic lupus erythematosus were able to maintain a pregnancy with outcomes that appear to be similar to other diagnoses. In an analysis of multiple gestations in female kidney recipients maintained on calcineurin inhibitors, no multiple gestations higher than triplets have been reported to the NTPR. Successful outcomes have been noted among these recipients. This does require continued surveillance, as there has been an increase in the number of multiple gestations in the general population with the use of adjunctive technologies. OTHER ORGANS: In analyzing outcomes in female liver recipients, no specific graft or newborn outcome differences have been noted when a comparison has been made between different caicineurin inhibitor regimens. Pregnancies in female pancreas-kidney recipients appear to be tolerated with respect to pancreas graft function with no diagnoses of gestational diabetes reported to the NTPR. Data continue to accrue among thoracic recipients. Poorer maternal survival postpartum in lung recipients may be related to higher risks inherent in this population and requires further experience and investigation. OTHER ISSUES: With the recent proliferation of newer immunosuppressive agents, a question that is raised is whether a regimen can be specifically designed with recipients of childbearing age in mind. Extensive data published on azathioprine and cyclosporine treated recipients suggests that while there is a pattern of prematurity among the newborn there has not been an increase in the incidence or pattern of specific malformations noted among the newborn. Less assurance can be given with newer agents such as sirolimus and MMF. Calcineurin inhibitor minimization or steroid withdrawal would require that other agents with less reproductive information be implemented. The unknown risk of teratogenicity must be balanced against the potential risk of rejection or graft dysfunction when deciding which agent to use during pregnancy. Through each of the organ recipient groups, there are sporadic cases of rejection, graft dysfunction, and graft deterioration. Birth defect patterns have not appeared to be specific to any specific regimen as yet. Two newborns with malformations have been noted among a limited series with MMF exposure, but other factors may also be at play. The use of MMF during pregnancy continues to be an unresolved issue in the transplant community. As yet, no one regimen has been identified as superior to another for use during pregnancy. Continued surveillance with the newer agents is necessary. Investigators have taken differing views regarding the safety of breastfeeding in the transplant recipient population, especially with regard to drug exposure to the infant. This issue remains unresolved and some transplant recipient mothers have chosen to breastfeed. Other factors for consideration are the potential long-term effects on offspring of transplant recipients. While there may not be specific structural defects noted at birth, more subtle effects on either immunologic or reproductive function may not manifest until later in life. Scott and his group in Utah have raised this issue with a case report and have initiated a study to focus on the next generation. The safety of pregnancy for parent and child remain the goals of the NTPR. Continued entries to the registry, especially in light of newer combinations of immunosuppressive agents, should assist in developing guidelines needed for management in this era of expanding immunosuppressive agents. All centers are encouraged to participate.

Creatinine↗

PubMed1993

Alpers progressive infantile neuronal poliodystrophy: an acute neonatal form with findings of the fetal akinesia syndrome.

We report on 8 patients from two families with Alpers syndrome. The onset in one family was prenatal and in the 4 patients who were examined, severe microcephaly, intrauterine growth retardation, and typical manifestations of fetal akinesia, including retrognathia, joint limitations, and chest deformity were found. The second family presented with an early infantile form. All the affected offspring had micrognathia and one had findings of fetal akinesia, comparable to those seen in the other family. Microcephaly was mild at birth and progressed with age. Refractory neonatal convulsions, swallowing difficulties, and pneumonia complicated the clinical course of patients in both families, and all the patients died before age 20 months. Results of comprehensive biochemical and metabolic studies in both families were normal and the diagnosis was supported by demonstration of extensive progressive brain atrophy on CT and typical histological findings. Patients without a detectable defect in energy metabolism and normal liver histology comprise a distinct subset of Alpers syndrome. Until the metabolic defect(s) is defined, we suggest naming the acute neonatal form of this subset of Alpers syndrome "type 1."

Abnormalities, Multiple↗