Polymorphisms in the fetal progesterone receptor and a calcium-activated potassium channel isoform are associated with preterm birth in an Argentinian population.

OBJECTIVE: To investigate genetic etiologies of preterm birth (PTB) in Argentina through evaluation of single-nucleotide polymorphisms (SNPs) in candidate genes and population genetic admixture. STUDY DESIGN: Genotyping was performed in 389 families. Maternal, paternal and fetal effects were studied separately. Mitochondrial DNA (mtDNA) was sequenced in 50 males and 50 females. Y-chromosome anthropological markers were evaluated in 50 males. RESULT: Fetal association with PTB was found in the progesterone receptor (PGR, rs1942836; P=0.004). Maternal association with PTB was found in small conductance calcium activated potassium channel isoform 3 (KCNN3, rs883319; P=0.01). Gestational age associated with PTB in PGR rs1942836 at 32-36 weeks (P=0.0004). MtDNA sequencing determined 88 individuals had Amerindian consistent haplogroups. Two individuals had Amerindian Y-chromosome consistent haplotypes. CONCLUSION: This study replicates single locus fetal associations with PTB in PGR, maternal association in KCNN3, and demonstrates possible effects for divergent racial admixture on PTB.

An approach on determining the displacements of the pelvic floor during voluntary contraction using numerical simulation and MRI.

The present study was conducted in order to establish a methodology based on the finite element method to simulate the contraction of the pelvic floor (PF) muscles. In the generated finite element model, a downward pressure of 90 cm H(2)O was applied, while actively contracting the PF muscles with different degrees of muscular activation (10, 50 and 100%). The finite element methodology of the active contraction behaviour proposed in this study is adequate to simulate PF muscle contraction with different degrees of muscular activation. In this case, in particular, for an activation of 100%, the numerical model was able to displace the pubovisceral muscle in a range of values very similar to the displacement found in the magnetic resonance imaging data. In the analysed case study, it would be possible to conclude that an intensity contraction of 50% would be necessary to produce enough stiffness to avoid possible urine loss.

A mosaic pattern of alopecia in the oral-facial-digital syndrome type I (Papillon-Léage and psaume syndrome).

We present an infant girl with oral-facial-digital syndrome type I, who had alopecia following the scalp lines of Blaschko, and we discuss the characteristics of alopecia in this syndrome.

Extensive symmetric truncal aplasia cutis congenita without fetus papyraceus or macroscopic evidence of placental abnormalities.

Aplasia cutis congenita is a rare disorder characterized by localized absence of skin at birth. Type V in Frieden's classification, which is associated with fetus papyraceous or placental infarcts, occurs as a large cutaneous defect on the trunk and extremities. The patient we report had a lesion affecting the trunk and extremities symmetrically, with no family history of the disorder or chromosomal abnormalities. In our opinion, despite the absence of fetus papyraceous or placental infarct, this patient's condition can be classified as type V.