No abstract

Pathogenic factors suggest that different forms of vascular injury to the fetal brain (emboli, haemorrhage, vasoconstriction, disseminated intravascular coagulation) can produce partial brain destruction, diminished intracranial pression and skull collapse in the fetal brain disruption sequence.

A holoprosencephaly, hypertelorism, and ectrodactyly syndrome (HHES) was described in three previous cases in whom chromosomes were apparently normal. We report on a 3-year-old boy with HHES and a de novo apparently balanced t(2;4)(q14.2;q35) confirmed by fluorescent in situ hybridization. He had severe growth and mental retardation, lobar holoprosencephaly, hypertelorism, microphthalmos, and iris, choroid, and retina colobomata. Less-severe facial involvement correlates with the semilobar type of holoprosencephaly; limb defects consisted of foot ectrodactyly and syndactyly. All previous HHES cases were sporadic and of unknown cause. A cryptic imbalance secondary to the translocation (2;4) in our patient may explain the phenotype.

Mexico is recognized as a country with a high prevalence of gastroschisis, although the cause of this remains unclear. We define the prevalence and potential risk factors for gastroschisis in a public hospital from west México. A casecontrol study was conducted among 270 newborns, including 90 patients with nonsyndromic gastroschisis (cases) and 180 infants without birth defects (controls), born all during the period 2009 to 2013 at the Hospital Civil de Guadalajara "Dr. Juan I. Menchaca" (Guadalajara, Mexico), from a total of 51 145 live births. Potential maternal risk factors for gastroschisis were compared using multivariate logistic regression analysis to evaluate the deviance explained by different variables of interest. The overall prevalence of gastroschisis in live births was 17.6 per 10 000 births (95% confidence interval [CI] 14.0-21.2), whereas in offspring of women ≤19 years old was 29.9 per 10 000 births (95% CI 21.9-38.0). Mothers ≤19 years (adjusted odds ratio [aOR] 2.8: 95% CI 1.5-5.1), anemia during pregnancy (aOR 10.7; 95% CI 2.0-56.9), first-trimester exposure to hormonal contraceptives (aOR 3.7; 95% CI 1.0-13.0), and first-trimester alcohol consumption (aOR 3.4; 95% CI 1.6-7.3), were associated with gastroschisis. Contrarily, adjusted OR for pre-pregnancy body mass index ≥25 kg/m 2 has protective odds (aOR 0.2; 95% CI 0.1-0.5). Our results suggest an increased risk for gastroschisis among mothers under the age of 20, with anemia during pregnancy, and those who used hormonal contraceptives or consumed alcohol during early pregnancy, whereas, pre-pregnancy overweight has a protective OR, and they are discussed as clues in its pathogenesis.

No abstract

To our knowledge, there are nine previous reports of patients with congenital scrotal agenesis (CSA), seven of which were bilateral, and unilateral in two, also named as hemiscrotal agenesis (HSA). Here, we report a male infant with the previously undescribed co-occurrence of HSA with cutis marmorata telangiectatica congenita (CMTC), and hydronephrosis due to vesicoureteral reflux, all of them on the left side. CMTC is a segmental vascular malformation usually attributed to mosaicism of a postzygotic mutation, whereas the mechanisms in the CSA involve a failure on the labioscrotal fold (LSF) development due to a localized 5α-reductase deficiency and/or androgen insensitivity. Since the skin with HSA was affected also by CMTC and by the fact that it exhibited lack of response to the topical testosterone treatment, all this suggests to us an androgen insensitivity mosaicism in our patient restricted to the left LSF, because skin with intact androgen receptors normally shows some type of response. Since CSA and/or HSA have been also seen in patients with PHACES, popitleal pterygium syndrome, or as part of a recently proposed familial entity with CSA (or agenesis of labia majora as its female counterpart), developmental delay, visual impairment, and moderate hearing loss, further reports could confirm this manifest genetic heterogeneity, highly evocative of somatic mosaicism in our patient.

No abstract

Curcumin is a phytochemical with antiinflammatory, antioxidant and anticarcinogenic activities. Apparently, curcumin is not genotoxic in vivo, but in vitro copper and curcumin interactions induce genetic damage. The aim of this study was to test if in vivo copper excess induces DNA damage measured by comet and micronucleus assays in the presence of curcumin. We tested 0.2% curcumin in Balb-C mice at normal (13 ppm) and high (65, 130 and 390 ppm) copper ion concentrations. The comet and micronucleus assays were performed 48 hr after chemical application. Comet tail length in animals treated with 0.2% curcumin was not significantly different from the control. Animals exposed to copper cations (up to 390 ppm) exhibited higher oxidative DNA damage. Curcumin reduced the DNA damage induced by 390 ppm copper. We observed statistically significant increase in damage in individuals exposed to 390 ppm copper versus the control or curcumin groups, which was lowered by the presence of curcumin. Qualitative data on comets evidenced that cells from individuals exposed to 390 ppm copper had longer tails (categories 3 and 4) than in 390 ppm copper + curcumin. A statistically significant increase in frequency of micronucleated erythrocytes (MNE/10000TE) was observed only in 390 ppm copper versus the control and curcumin alone. Also cytotoxicity measured as the frequency of polychromatic erythrocytes (PE/1000TE) was attributable to 390 ppm copper. The lowest cytotoxic effect observed was attributed to curcumin. In vivo exposure to 0.2% curcumin for 48 hr did not cause genomic damage, while 390 ppm copper was genotoxic, but DNA damage induced by 390 ppm copper was diminished by curcumin. Curcumin seems to exert a genoprotective effect against DNA damage induced by high concentrations of copper cations. The comet and micronucleus assays prove to be suitable tools to detect DNA damage by copper in the presence of curcumin.