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Detection of significant demographic differences between subpopulations of prehispanic Maya from Copan, Honduras, by survival analysis.

Heterogeneity and small sample size are problems that affect many paleodemographic studies. The former can cause the overall distribution of age at death to be an amalgam that does not accurately reflect the distributions of any of the groups composing the heterogeneous population. The latter can make it difficult to separate significant from nonsignificant demographic differences between groups. Survival analysis, a methodology that involves the survival distribution function and various regression models, can be applied to distributions of age at death in order to reveal statistically significant demographic differences and to control for heterogeneity. Survival analysis was used on demographic data from a heterogeneous sample of skeletons of low status Maya who lived in and around Copan, Honduras, between A.D. 400 and 1200. Results contribute to understanding the collapse of Classic Maya civilization.

Age Factors

A novel variant combination in COASY associates with severe prenatal onset PCH12: expanding the clinical and genetic spectrum.

Pontocerebellar hypoplasia type 12 (PCH12) is an ultra-rare, perinatal lethal, neurodegenerative disorder with microcephaly and arthrogryposis. Previous reports have associated PCH12 with complete loss-of-function variants in COASY identified in 14 fetuses and newborns from eight unrelated families. In contrast, COASY partial loss-of-function variants have been linked to COASY protein-associated neurodegeneration (CoPAN), a subtype of neurodegeneration with brain iron accumulation (NBIA). Emerging evidence suggests that COASY-related disorders may represent a phenotypic continuum between PCH12 and CoPAN. Using exome sequencing, we identified a previously reported missense variant (c.641C>T, p.Ala214Val) as well as a previously unreported rare nonsense variant (c.1015C>T, p.Arg339*) in a compound heterozygous state in the COASY gene in a patient presenting with clinical features consistent with PCH12. The p.Ala214Val variant has only been described in combination with another missense variant (p.Arg499Cys) in two siblings with CoPAN. The presence of p.Ala214Val in trans with the truncating p.Arg339* variant in this patient is associated with a severe perinatal lethal phenotype resembling PCH12. This case broadens the reported genetic and phenotypic spectrum of COASY-associated disorders and highlights the importance of continued genotype-phenotype correlation investigation.

Humans

Sudden dilatation of right ventricle in two patients with thrombosis of a mitral Björk valve detected by echocardiography: different aspects of acute and chronic overloads of the right ventricle in these patients.

Acute thrombotic obstruction of disc valve prosthesis is a rare but catastrophic event without an immediate correct diagnosis and precocious treatment (Amman et al., 1984; Assanelli et al., 1986; Copans et al., 1980; Mann et al., 1986; Gibson et al., 1974; Johnson et al., 1973; Ledain et al., 1986). That is the main reason it is important to consider each helpful sign in order to recognize such a situation. We detected an important dilatation of the right ventricle in two patients with different stages of thrombosis of mitral Björk, the first one had also a chronic dilatation of the right ventricle due to tricuspid regurgitation. The clinical and pathophysiological aspects of these unusual situations are described in this article.

Adult

Idiopathic degeneration of the aortic valve: a common cause of isolated aortic regurgitation.

To establish the etiology of isolated aortic valvular regurgitation, histologic examination was carried out on 27 consecutive surgically removed aortic valves from patients with aortic regurgitation. In 12 patients, the regurgitation was due to rheumatic or syphilitic valvular disease or a congenital bicuspid aortic valve. In the remaining 15, no etiology was apparent. In the latter group, seven aortic valves were identified by the surgeon as redundant and eight as thickened and retracted. Despite these gross differences, the histologic features of the 15 valves were similar and consisted of increased and disorganized elastic and collagen fibers, with variable quantities of acid mucopolysaccharide and calcium. Although small foci of myxomatous stroma were present, they did not differ substantially from those observed in age-matched competent aortic valves removed at necropsy, nor were they as extensive as described in reports of floppy aortic valves. Idiopathic degeneration was the most common cause of aortic regurgitation, occurring in more than half of the surgically treated patients. An underlying defect in the synthesis of collagen or elastic fibers, similar to that described in mitral valve prolapse, may be an important feature in aortic valve degeneration.

Adult

Father identity.

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Adult

Local-regional anesthesia during childbirth: effect on newborn behaviors.

Administration of local-regional anesthesia during norgnal deliveries was correlated significantly with newborn behaviors as evaluated by the Brazelton neonatal assessment scale. Three days after birth, infants whose mothers received local-regional anesthesia were more irritable and motorically less mature than those infants whose mothers were not medicated.

Anesthesia, Conduction

Dimensions of prenatal anxiety and their influence on pregnancy outcome.

Wtih the use of perinatal data from a prospective study of 73 primigravid women and their newborn infants, we determined that prenatal anxiety is not a unitary construct, but that it is useful to consider the distinct concerns of pregnancy. From interviews with the pregnant women, three dimensions of anxiety were identified: (1) anxiety about the pregnancy and approaching birth, (2) anxiety about anticipated care of the child, and (3) psychiatric symptomatology. Correlations of the three anxiety dimensions with background and perinatal outcome variables reveal the strongest associations between anxiety about pregnancy and birth with maternal age, education, and preparation for childbirth. Anxieties about pregnancy and birth and about parenting are related to administration of anesthesia during childbirth and the motor maturity of the neonate. The findings thus give evidence that even in a medically uncomplicated population, emotional states of pregnancy are rooted in the woman's background and may have an impact on perinatal events and infant functioning.

Adolescent

Multidimensional sources of infant temperament.

Previous research on infant temperament has implicated a variety of prenatal and perinatal conditions, but most studies have investigated a single source of infant variability. This study examined the impact of several prenatal and perinatal factors on infant outcome according to a conceptual system of hypothetical models of influence. Seventy-five couples expecting their first child were recruited and interveiwed in the last trimester of pregnancy, providing demographic data and measures of the pregnancy experience and expectations of parenting. Childbirth information was obtained from hospital records, and infant behaviors were measured at three days of age by the Neonatal Behavioral Assessment Scale. Results indicate that the antecedent variables are themselves intercorrelated in that older, more highly educated, and financially secure couples are more likely to have a satisfying pregnancy and to be confident about childbirth and parenting than their young, more anxious counterparts. Two statistical methods--partial correlation and path analysis--were used to analyze relative relationships with infant behaviors. Results from both methods indicate that most of the antecedent variables (parental characteristics of age and socioeconomics, parental pregnancy orientation, and use of obstetric anesthesia) must be considered sources of infant behaviors. These findings thus demonstrate the imprecision of inferring a single causal pathway of parental or perinatal influence on infant temperament.

Age Factors