In humans, unpaired organs are placed in a highly ordered pattern along the left-right axis. As indicated by animal studies, a cascade of signaling molecules establish left-right asymmetry in the developing embryo. Some of the same genes are involved also in limb patterning. To provide a better insight into the connection between these processes in humans, we analysed the symmetry of limb deficiencies among infants with multiple congenital anomalies. The study was based on data collected by the International Clearinghouse for Birth Defects Monitoring Systems (ICBDMS). Registries of the ICBDMS provided information on infants who, in addition to a limb deficiency, also had at least one major congenital anomaly in other organ systems. We reviewed 815 such cases of which 149 cases (18.3 %) were syndromic and 666 (81.7 %) were nonsyndromic. The comparisons were made within the associated limb deficiencies, considering the information on symmetry, using a comparison group with malformations associated not involved in the index association. Among the non-syndromic cases, the left-right distribution of limb deficiencies did not differ appreciably between limb deficiency subtypes (e.g., preaxial, transverse, longitudinal). The left-right distribution of limb anomalies did not differ among most types of non-limb anomalies, though a predominance of left-sided limb deficiencies was observed in the presence of severe genital defects - odds ratio [OR], 2.6; 95 % CI, 1.1-6.4). Limb deficiencies (LDs) were more often unilateral than bilateral when accompanied by gastroschisis (OR, 0.1) or axial skeletal defects (OR, 0.5). On the contrary, LDs were more often bilateral than unilateral when associated with cleft lip with or without cleft palate (OR, 3.9) or micrognathia (OR, 2.6). Specifically, we found an association between bilateral preaxial deficiencies and cleft lip, bilateral amelia with gastroschisis and urinary tract anomalies, and bilateral transverse deficiencies and gastroschisis and axial skeleton defects. Of 149 syndromic cases, 62 (41.6 %) were diagnosed as trisomy 18. Out of the 30 cases of trisomy 18 with known laterality, 20 cases were bilateral. In the remainder the right and left sides were equally affected. Also, in most cases (74.4 %) only the upper limbs were involved. In conclusion the left-right distribution of limb deficiencies among some non-limb anomalies may suggest a relationship between the development of the limb and the left-right axis of the embryo.

Abnormalities, Multiple↗

PubMedDate not supplied

[Improving in the quality of mortality coding through press reports].

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Cause of Death↗

PubMedDate not supplied

What is the surface specific area of porous cement-based material? A nuclear magnetic relaxation dispersion approach.

We propose a new NMR method to measure and follow the evolution of the surface specific area, Sp, of a porous cement-based material. This method, that does not require any preliminary drying process, uses nuclear magnetic relaxation dispersion (NMRD), the measurement of spin-lattice relaxation rate as a function of magnetic field strength or nuclear Larmor frequency. The method is applied for three different mortars samples prepared by mixing cement, sand, silica fume, water and superplasticizer with a water to cement ratio w/c=0.25, 0.38 and 0.65, respectively. The evolution of Sp grows linearly with the degree of advancement of chemical reactions measured by thermal heating and we evidence two relaxation processes independent of the w/c ratio.

Construction Materials↗

PubMedDate not supplied

In vitro analysis of platelet concentrates stored in the presence of modulators of 3',5' adenosine monophosphate, and organic anions.

The storage of conventional platelet concentrates (PCs) under standard blood bank conditions is limited to five days, in part because longer storage periods lead to increasing damage in platelet integrity and functionality. The growing demand of PCs for clinical use, raises the interest to develop agents that would potentially permit a more extended period of storage. We have evaluated and compared the in vitro quality of PCs treated with: (1) Modulators of levels of cAMP (PGE1, foskolin, theophylline and isobutyl-methyl-xanthine [IBMX]); and (2) organic anions that function as alternative substrates of platelets (pyruvate and acetate). Platelet rich plasma (PRP) from pools (n = 6) of PCs was distributed into storage bags, and the agents to be tested were added, using saline as a control substance. PCs were stored at 22 degrees C with continuous agitation for up to 10 days. At 0, 5 and 10 days of storage, samples were analyzed for platelet counts, mean platelet volume (MPV), metabolic markers, and expression of glycoproteins (GPs). The addition of modulators of levels of cAMP, at the concentration used in the study, did not lead to substantial improvement in the parameters being evaluated, with respect to those in control units. The supplementation with organic anions, while not affecting the surface levels of GPs, favored the maintenance of metabolic values, such as pH, PCO2, and bicarbonate concentrations, as well as the preservation of MPV (p values < 0.05 respect to control units both at 5 and 10 days of storage). Our results indicate that while the use of modulators of levels of cAMP do not provide substantial benefit in the prevention of platelet storage lesions, organic anions have some advantageous effect in the storage promoted metabolic changes of PCs. These data might be considered when designing strategies to improve PC storage.

1-Methyl-3-isobutylxanthine↗

PubMedDate not supplied

Maternal and fetal factors related to abnormal amniotic fluid.

OBJECTIVE: The objective of this study was to identify maternal and infant characteristics related to alteration of amniotic fluid volume at birth. STUDY DESIGN: A series of 27,145 consecutive malformed newborn infants from the Spanish Collaborative Study of Congenital Malformations (ECEMC) was analyzed. From this total, 3.01% were found to have oligohydramnios and 3.69% were found to have polyhydramnios. RESULTS: As expected, renal/urinary tract and lung defects were associated with oligohydramnios, whereas esophageal and intestinal atresias, neural tube defects, and other central nervous system malformations were associated with polyhydramnios. In addition, other defects such as cardiovascular anomalies, hydrocephaly, and microcephaly were also related to abnormalities of amniotic fluid volume. After excluding the defects whose association to oligo- or polyhydramnios is well recognized, we compared the frequency of different variables among them and with infants with a normal volume of amniotic fluid. In comparison with infants with normal amniotic fluid volume, the groups with oligo- and polyhydramnios had lower birth weight, shorter gestational age and umbilical cord, higher parental ages, and a greater frequency of spontaneous abortions. The differences were more marked for weight in newborn infants with oligohydramnios, and for gestational age, umbilical cord length, number of previous pregnancies, and spontaneous abortions in polyhydramnios cases. Placental weight was lower in oligohydramnios cases than in infants with normal amniotic fluid, and higher in polyhydramnios cases. Parental consanguinity and twinning were more frequent in polyhydramnios. Maternal morbidity was higher in both groups with abnormal amniotic fluid volume, especially for acute diseases such as hypertension, diabetes mellitus, and gestational diabetes. Chromosomal aberrations were more frequent in the oligo- and polyhydramnios groups than in cases with a normal volume of amniotic fluid, which supports the suggestion of performing prenatal cytogenetic analysis in any pregnancy complicated by an abnormal volume of amniotic fluid. CONCLUSION: The fact that all of these results are similar in the control group of healthy infants suggests that at least some of the variables associated with abnormal amniotic volume could be considered as causal factors altering the production of fluid.

Birth Weight↗

PubMedDate not supplied

Periconceptional exposure to contraceptive pills and risk for Down syndrome.

OBJECTIVE: There are some studies which analyzed the relationship between prenatal exposure to oral contraceptives (OCs) and Down syndrome, with conflicting results even in women using OCs and conceiving at different intervals after discontinuing the use of contraceptive pills. We analyzed the risk for Down syndrome in infants of women who become pregnant while taking OC. STUDY DESIGN: We used the data from the Spanish Collaborative Study of Congenital Malformations (ECEMC). The ECEMC is a case-control study and surveillance system. For each malformed infant (case), the next non-malformed infant of the same sex born in the same hospital is selected as a control subject, from whom the collaborating physicians collected the same data as for the malformed infant. For the present study, we used two different approaches. First, the pair-matching analysis. Second, a case-control using the rest of the total of 17,183 controls from the ECEMC database with specified data on maternal use of OCs and maternal age. To control for maternal age, we used a logistic regression analysis. RESULTS: The results show an increased risk of 2.8-fold for infants with Down syndrome in women younger than 35 years of age if the mother became pregnant while she was taking OCs. We did not observe this result for women older than 34 years of age. CONCLUSION: Our results showed that the risk for Down syndrome in infants born to mothers with less than 35 years of age (as a group) who became pregnant while taking OCs is near the risk for Down syndrome of mothers with more than 34 years of age, women who are candidates for prenatal diagnosis. Thus, based on our results, one may consider the possibility of offering prenatal diagnosis for Down syndrome to young women who became pregnant while taking OCs.

Abnormalities, Drug-Induced↗