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1.
Cureus ; 15(10): e46328, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37916235

RESUMEN

Alterations in gonad formation or function can lead to congenital conditions in which chromosomal, gonadal, or anatomical sex is atypical. These conditions are referred to as disorders of sex development (DSD) and have a heterogeneous etiology. The assessment of these children by a multidisciplinary team is crucial for an accurate diagnosis and should be initiated promptly due to the potentially life-threatening nature of congenital adrenal hyperplasia, a common cause of DSD. We present a neonate born at 39 weeks with a weak cry, slight hypotonia, poor suction reflex, peculiar facies, and ambiguous genitalia. From the study carried out, the abdominopelvic ultrasound revealed a nodular structure compatible with the left gonad. Aneuploidy screening confirmed the presence of the Y chromosome. Additionally, normal endocrinological studies and the karyotype showed a genotype compatible with cri-du-chat syndrome with partial trisomy of chromosome 3. Children with cri-du-chat syndrome characteristically exhibit a cat-like cry and distinctive facial features, along with developmental delay and intellectual disability. Duplication of 3p is a rare genetic disorder, usually associated with other chromosomal anomalies and congenital malformations, namely, of the genitals.

2.
PLoS One ; 9(9): e107144, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-25191758

RESUMEN

Attempts to meet biodiversity goals through application of the mitigation hierarchy have gained wide traction globally with increased development of public policy, lending standards, and corporate practices. With interest in biodiversity offsets increasing in Latin America, we seek to strengthen the basis for policy development through a review of major environmental licensing policy frameworks in Argentina, Brazil, Chile, Colombia, Mexico, Peru and Venezuela. Here we focused our review on an examination of national level policies to evaluate to which degree current provisions promote positive environmental outcomes. All the surveyed countries have national-level Environmental Impact Assessment laws or regulations that cover the habitats present in their territories. Although most countries enable the use of offsets only Brazil, Colombia, Mexico and Peru explicitly require their implementation. Our review has shown that while advancing quite detailed offset policies, most countries do not seem to have strong requirements regarding impact avoidance. Despite this deficiency most countries have a strong foundation from which to develop policy for biodiversity offsets, but several issues require further guidance, including how best to: (1) ensure conformance with the mitigation hierarchy; (2) identify the most environmentally preferable offsets within a landscape context; (3) determine appropriate mitigation replacement ratios; and (4) ensure appropriate time and effort is given to monitor offset performance.


Asunto(s)
Biodiversidad , Conservación de los Recursos Naturales/legislación & jurisprudencia , Formulación de Políticas , Política Pública , Animales , Ecosistema , Ambiente , Regulación Gubernamental , Humanos , América Latina , Concesión de Licencias , Política Pública/legislación & jurisprudencia
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