RESUMEN
We investigated the evolutionary history of the striped field mouse to identify factors that initiated its past demographic changes and to shed light on the causes of its current genetic structure and trans-Eurasian distribution. We sequenced mitochondrial cyt b from 184 individuals, obtained from 35 sites in central Europe and eastern Mongolia. We compared genetic analyses with previously published historical distribution models and data on environmental and climatic changes. The past demographic changes displayed similar population trends in the case of recently expanded clades C1 and C3, with the glacial (MIS 3-4) expansion and postglacial bottleneck preceding the recent expansion initiated in the late Holocene and were related to environmental changes during the upper Pleistocene and Holocene. The past demographic trends of the eastern Asian clade C3 were correlated with changes in sea level and the formation of new land bridges formed by the exposed sea shelf during the glaciations. These data were supported by reconstructed historical distribution models. The results of our genetic analyses, supported by the reconstruction of the historical spatial distributions of the distinct clades, confirm that over time the local populations mixed as a consequence of environmental and climatic changes resulting from cyclical glaciation and the interglacial period during the Pleistocene.
Asunto(s)
Cambio Climático , Evolución Molecular , Muridae/genética , Distribución Animal , Animales , Biomasa , ADN Mitocondrial/genética , Fenómenos Geológicos , Muridae/clasificación , FilogeniaRESUMEN
BACKGROUND: SHORT syndrome is a rare genetic congenital defects condition. The frequency of the disease still remains unknown. CASE PRESENTATION: We report the two-year-four-month old female with SHORT syndrome who present growth retardation and dysmorphic features (triangular-shaped face, prominent forehead, ocular depression, lipodystrophy at the lumbar region and around elbows), consistent with the phenotype described for this syndrome. The molecular analysis showed the presence of heterozygous variant c.1956dupT (p.Lys653*) in exon 15 of PIK3R1. CONCLUSIONS: The frequency of the disease still remains unknown; solely several dozen cases have been described worldwide.
Asunto(s)
Anomalías Múltiples/diagnóstico , Discapacidades del Desarrollo/fisiopatología , Predisposición Genética a la Enfermedad , Trastornos del Crecimiento/diagnóstico , Hipercalcemia/diagnóstico , Enfermedades Metabólicas/diagnóstico , Nefrocalcinosis/diagnóstico , Anomalías Múltiples/genética , Preescolar , Discapacidades del Desarrollo/etiología , Femenino , Trastornos del Crecimiento/genética , Humanos , Hipercalcemia/genética , Enfermedades Metabólicas/genética , Nefrocalcinosis/genética , Pronóstico , Enfermedades RarasRESUMEN
INTRODUCTION: Graves' disease (MGB) is the most common cause of hyperthyroidism in children and adolescents. This condition is more common in girls than boys, in a ratio of about 5:1. The coexistence of Graves' disease (MGB) with growth hormone deficiency (GHD) is not common. Much more often GHD connects with hypothyroidism. CASE REPORT: We present the case of 13-year old female patient with Graves' disease, diagnosed at 10 years of age and growth hormone deficiency, which was confirmed at the age of 12. Currently, the girl was qualified to growth hormone therapy. CONCLUSIONS: 1) Described by our case is interesting because of the rarity of coexistence Graves' disease with growth hormone deficiency. 2) GH deficiency often accompanies hypothyroidism. Note, however, that hyperthyroidism may be associated with short stature in the course of growth hormone deficiency. 3) The coexistence of endocrine disorders in childhood is not uncommon, so the diagnosis of one disease entity should not exclude further observation for the presence of other endocrine disorders.