First birth of a healthy infant following intra-cytoplasmic sperm injection using a new permeable cryoprotectant-free sperm vitrification protocol

PurposeThe purpose of this study is to present the first birth of healthy infant born following ICSI using the new permeable cryoprotectant-free sperm vitrification protocol Easy-Sperm^®.Principal resultsA 39 years old woman and his 40 years old partner underwent egg donation treatment at IVF-Spain Alicante (Spain). Half of the mature oocytes obtained from a young and healthy donor were fertilized by ICSI, using slow-frozen spermatozoa and the other half with vitrified spermatozoa. A total of 5 blastocysts were obtained on day 5 (3 resulting from vitrified spermatozoa and 2 from frozen sperm). The best embryo, with AA quality (derived from one of the oocytes fertilized with vitrified sperm) was transferred. The woman conceived and, following a normal pregnancy, delivered a healthy boy.ConclusionsTo the best of our knowledge, this is the first case report of a successful pregnancy and delivery of a healthy infant from ICSI with permeable vitrified spermatozoa in an oocyte donation program with transfer on blastocyst stage.     

Modeling continuous auxiliary covariate data in generalized linear mixed models using the kernel smoother

Auxiliary covariate data are often collected in biomedical studies when the primary exposure variable is only assessed on a subset of the study subjects. In this study, we investigate a semiparametric‐estimated likelihood estimation for the generalized linear mixed models (GLMM) in the presence of a continuous auxiliary variable. We use a kernel smoother to handle continuous auxiliary data. The method can be used to deal with missing or mismeasured covariate data problems in a variety of applications when an auxiliary variable is available and cluster sizes are not too small. Simulation study results show that the proposed method performs better than that which ignores the random effects in GLMM and that which only uses data in the validation data set. We illustrate the proposed method with a real data set from a recent environmental epidemiology study on the maternal serum 1,1‐dichloro‐2,2‐bis(p‐chlorophenyl) ethylene level in relationship to preterm births.     

Relations among birth condition, maternal condition, and postnatal growth in captive common marmoset monkeys (Callithrix jacchus)

The present study characterizes the relations among maternal condition, litter size, birth condition, and growth in body weight for a population of common marmosets. The subjects of the study were marmosets born into a single colony between 1994 and 2001. Three sets of analyses were conducted to answer the following questions: 1) Is there a relationship between litter size, maternal condition, and birth condition? In the study population, maternal body weight, maternal age, litter size, and birth condition were related in a complex fashion. Birth weight and prenatal long‐bone growth, as reflected in knee–heel length, were both related to maternal age, with older mothers supporting higher prenatal growth. Age and maternal condition appeared to interact as determinants of long‐bone growth, as the combination of older and larger mothers resulted in significantly longer knee–heel lengths in their offspring. 2) Is there a relationship between birth condition or maternal condition and subsequent growth or final adult size? The early growth rate in this population was similar to early growth rates reported for three different marmoset colonies, suggesting that early growth may be relatively inflexible in this species. However, within this population, the variation that did occur in early growth rate was related to birth weight and maternal weight. Later growth and adult weight were related to birth weight and litter size: small twin infants displayed slower later growth rates and were smaller as adults than twins that began life at a higher birth weight, while the birth weight of triplets was not related to adult size. In these marmosets, small infants that were the result of increased litter size differed from small infants whose small birth size resulted from other factors. This reinforces the proposal that the causes of low birth weight will be relevant to the development of the marmoset as a model of prenatal environmental effects. Am. J. Primatol. 62:83–94, 2004. © 2004 Wiley‐Liss, Inc.     

Clinical and cytogenetic manifestations of subtelomeric aberrations: Report of six cases

BACKGROUND: Fluorescent subtelomeric probes for the 41 different subtelomeric regions (the p arms of the acrocentric chromosomes were excluded) have been developed over the last 10 years. These probes can detect deletions, duplications, and translocations in the gene-rich subtelomeric regions of human chromosomes, regions where crossing over frequently occurs and where a high number of abnormalities have been found. Recently, commercially produced probes have become available, which has led to the detection of subtelomeric abnormalities in 7.4% of patients with moderate to severe mental retardation (Knight et al., 1999). CASES: We evaluated 43 dysmorphic children with developmental delay and/or mental retardation of unknown etiology and/or autism who were previously assessed for chromosome abnormalities, metabolic disorders, or recognizable dysmorphic syndromes, all of which were ruled out. Of the 43 children tested, 6 (14%) were found to have subtelomeric aberrations. CONCLUSIONS: We recommend that patients with dysmorphic features and mental retardation of unknown etiology who also have a normal standard chromosome analysis should have subtelomeric FISH testing performed earlier in their clinical workup.     

Recommendations for accelerating global action to prevent folic acid-preventable birth defects and other folate-deficiency diseases: meeting of experts on preventing folic acid-preventable neural tube defects

BACKGROUND: In April of 2003, The Micronutrient Initiative, in collaboration with several other organizations, convened a group of knowledgeable scientists and policy experts to discuss ways to accelerate the global pace at which countries implement effective and sustainable programs to prevent folic acid-preventable birth defects and other folate-deficiency diseases. Programs implemented to date by fewer than 40 countries have prevented only 10% of the estimated 240,000 annual cases of folic acid-preventable spina bifida and anencephaly. METHODS: Participants in this meeting summarized and presented scientific evidence showing that increased consumption of synthetic folic acid prevents a large proportion of spina bifida and anencephaly cases. They also reviewed related guidance and endorsement issued by national professional societies and advisory bodies as well as policies and programs implemented by some countries that have already demonstrated successful results in terms of reduced rates of neural tube defects and improved folate nutrition. CONCLUSIONS: The group formulated and discussed recommendations and strategies for increasing the pace of neural tube defect prevention globally. The recommendations and strategies are published here.     

Why are human newborns so big and fat?

Human newborns and infants have morphological and physiological traits protecting them against hypothermia. These traits are unusual for primates, with some of them rarely seen in other mammals evolving in an African environment. We can include the following: 1.) A non-allometric, bigger size of the newborn, resulting in the decrease of surface to body mass ratio (S/W). 2.) Greater amount of subcutaneous fat tissue (SFT) increasing insulation. 3.) Greater amount of brown fat tissue increasing nonshivering thermogenesis. 4.) Active thermoregulation when sleeping. 5.) Thermal balance moved in the direction of heat conservation in a few months' old babies. I here present a hypothesis that it was the risk of nocturnal hypothermia in open habitats of late Pliocene that was the selective pressure promoting evolutionary emergence of these traits inHomo erectus. The inverse radiation at night in open habitats causes strong gradient of temperatures. In effect the temperatures near the ground (even in the tropics) can be low enough to endanger newborns and infants with hypothermia. If earlyHomo was naked, slept on the ground and if mortality of their babies caused by hypothermia was high, then selection pressures could have promoted those traits protecting infants against the risk of hypothermia. Since the most important traits (1. & 2.) in respect of heat conservation, depend on mother size, it is postulated that they appeared when female body size increased dramatically i.e. duringHomo erectus stage of human phylogeny.     

Patterns of reproduction in Malayan silvered leaf monkeys at the Bronx Zoo

Within phylogenetic limits reproductive characteristics of a given species may vary between populations in response to ecological and social factors. For instance, in environments where high quality nutrition is readily available, the onset and speed of reproduction are often accelerated. Other influencing factors might be maternal experience or the sex of the infant. Here we present data on reproductive characteristics for the silvered leaf monkey (Trachypithecus cristatus), a medium‐sized Asian colobine housed at the Wildlife Conservation Society's Bronx Zoo as a one‐male group. To place the species into an appropriate phylogenetic context, we limited our comparison to other colobine species. Demographic data span 21.4 years (October 1985 to March 2007) and derive from 30 adult females (128.0 female years). Detailed behavioral data stem from a 2.2 years study (November 2002 to January 2005; 734 days, 4,225 hr). As in other Asian colobines, receptive periods were short (mean=4.3 days, n=68). This is expected for one‐male groups where receptivity likely indicates, rather than conceals, ovulation. Gestation length was estimated based on a change in the pattern of sexual behavior (mean=194.6 days, n=7). It fell within the range reported for the taxon. Births occurred year round, at an early age (mean=2.9 years, n=8), at short intervals (mean=14.9 months, n=59) in combination with a short lactation (mean 12.1 months, n=9) likely due to the nearly unlimited availability of nutrition in this zoo setting. Primiparous females tended to have a longer first interbirth interval but infant survival rates were similar to multipara possibly due to the absence of predators. Maternal investment was independent of the infant's sex and birth sex ratio was even. Our results emphasize that when interpreted with caution, zoo populations yield realistic reproductive characteristics that can help fill the gap in our knowledge about colobine life history. Am. J. Primatol. 71:852–859, 2009. © 2009 Wiley‐Liss, Inc.     

Placental 5-methylcytosine and 5-hydroxymethylcytosine patterns associate with size at birth

Altered placental function as a consequence of aberrant imprinted gene expression may be one mechanism mediating the association between low birth weight and increased cardiometabolic disease risk. Imprinted gene expression is regulated by epigenetic mechanisms, particularly DNA methylation (5mC) at differentially methylated regions (DMRs). While 5-hydroxymethylcytosine (5hmC) is also present at DMRs, many techniques do not distinguish between 5mC and 5hmC. Using human placental samples, we show that the expression of the imprinted gene CDKN1C associates with birth weight. Using specific techniques to map 5mC and 5hmC at DMRs controlling the expression of CDKN1C and the imprinted gene IGF2, we show that 5mC enrichment at KvDMR and DMR0, and 5hmC enrichment within the H19 gene body, associate positively with birth weight. Importantly, the presence of 5hmC at imprinted DMRs may complicate the interpretation of DNA methylation studies in placenta; future studies should consider using techniques that distinguish between, and permit quantification of, both modifications.