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1.
Nat Commun ; 9(1): 3547, 2018 09 11.
Artículo en Inglés | MEDLINE | ID: mdl-30206220

RESUMEN

Despite centuries of research, much about the barbarian migrations that took place between the fourth and sixth centuries in Europe remains hotly debated. To better understand this key era that marks the dawn of modern European societies, we obtained ancient genomic DNA from 63 samples from two cemeteries (from Hungary and Northern Italy) that have been previously associated with the Longobards, a barbarian people that ruled large parts of Italy for over 200 years after invading from Pannonia in 568 CE. Our dense cemetery-based sampling revealed that each cemetery was primarily organized around one large pedigree, suggesting that biological relationships played an important role in these early medieval societies. Moreover, we identified genetic structure in each cemetery involving at least two groups with different ancestry that were very distinct in terms of their funerary customs. Finally, our data are consistent with the proposed long-distance migration from Pannonia to Northern Italy.


Asunto(s)
Genómica , Migración Humana/historia , Paleontología/historia , Conducta Social , Arqueología , Cementerios , Geografía , Historia Medieval , Humanos , Filogenia , Análisis de Componente Principal , Isótopos de Estroncio
2.
Am J Emerg Med ; 31(4): 670-5, 2013 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-23380115

RESUMEN

UNLABELLED: We present a multicenter validation of a modified Manchester Triage System (MTS) flowchart for pediatric patients who present with headache to the emergency department. A prospective observational study was conducted across 5 European pediatric emergency departments. The standard MTS headache flowchart and a modified MTS headache flowchart were tested in the participating centers, and results were compared with triage categories identified by either the physician at the end of the clinical examination or the reference classification matrix (RCM). Fifty-three patients were enrolled in the preimplementation phase and 112 in the postimplementation phase. When compared with physician's triage and RCM, the modified MTS flowchart demonstrated good sensitivity (79% and 70%, respectively), specificity (77% and 76%, respectively), and a high positive likelihood ratio (9.14 and 16.75, respectively) for the identification of low-risk children. CONCLUSIONS: Our modified headache flowchart is safe and reliable in pediatric emergency settings, especially for lower classes of urgency.


Asunto(s)
Cefalea/clasificación , Triaje/métodos , Adolescente , Niño , Preescolar , Servicio de Urgencia en Hospital , Femenino , Adhesión a Directriz , Cefalea/etiología , Humanos , Masculino , Estudios Prospectivos
4.
Clin Immunol ; 128(3): 322-8, 2008 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-18708023

RESUMEN

The identification of a Btk mutation in a male patient with <2% CD19(+) B cells warrants making the diagnosis of X-linked Agammaglobulinemia (XLA). Herein we report the case of a 31 year-old male with a gradual decline of peripheral B lymphocytes and low IgA and IgM but normal IgG levels. His clinical history revealed recurrent respiratory and skin infections, sclerosing cholangitis and chronic obstructive pancreatitis. Molecular studies revealed a novel aminoacidic substitution in Btk protein (T316A). His mother, maternal aunts and a maternal female cousin were heterozygotes for the same Btk mutation and were variably affected with pulmonary emphysema. This is a puzzling case where the patient's clinical history and laboratory findings divorce molecular genetics. Either this case confirms the variable expressivity of XLA disease or the T316A change in Btk SH2 domain is a novel non-pathogenic mutation and another unknown gene alteration is responsible for the disease.


Asunto(s)
Agammaglobulinemia/diagnóstico , Agammaglobulinemia/genética , Linfocitos B , Enfermedades Genéticas Ligadas al Cromosoma X/diagnóstico , Subgrupos Linfocitarios/inmunología , Mutación Missense , Proteínas Tirosina Quinasas/genética , Adulto , Agammaglobulinemia Tirosina Quinasa , Agammaglobulinemia/inmunología , Sustitución de Aminoácidos , Linfocitos B/inmunología , Femenino , Enfermedades Genéticas Ligadas al Cromosoma X/inmunología , Enfermedades Genéticas Ligadas al Cromosoma X/metabolismo , Humanos , Recuento de Linfocitos , Subgrupos Linfocitarios/metabolismo , Masculino , Linaje , Proteínas Tirosina Quinasas/química , Proteínas Tirosina Quinasas/metabolismo
6.
Acta Paediatr ; 96(3): 469-71, 2007 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-17407484

RESUMEN

UNLABELLED: Temporary henna tattoos have become increasingly popular as a safe alternative to permanent tattoos among American and European children and teenagers during the summer holidays. Currently, temporary henna tattoos contain not only henna, but also other additives such as para-phemylenediamine (PPD), which is considered to be the chemical agent that most frequently causes skin reactions associated with the use of commercial black henna. In this report, we describe an 11-year-old boy who applied a temporary black henna tattoo on his right arm during the summer holidays in Greece and developed a severe contact dermatitis at the tattoo site with residual hypopigmentation. He had no previous history of contact dermatitis, however he did suffer from seasonal allergic rhinitis and atopic dermatitis. Patch testing revealed a strong reaction to PPD, a substance commonly contained in temporary henna tattoo preparations. CONCLUSION: Henna tattoos are an increasing problem worldwide since they carry an increased risk of severe skin reactions; therefore we suggest that the use of temporary henna tattoos in children be discouraged.


Asunto(s)
Colorantes/efectos adversos , Dermatitis Alérgica por Contacto/etiología , Naftoquinonas/efectos adversos , Tatuaje/efectos adversos , Niño , Dermatitis Alérgica por Contacto/epidemiología , Dermatitis Alérgica por Contacto/inmunología , Dermatitis Atópica/epidemiología , Humanos , Masculino , Naftoquinonas/inmunología
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