RESUMO
The figurative arts and precisely the ancient Pompeian wall paintings portraits can provide an additional source of information in supplementing bio-anthropological studies. There are several genetic diseases with a wide spectrum of congenital bone stigmata in association to distinctive facial features. Gorlin-Goltz syndrome, also named nevoid basal cell carcinoma syndrome, is an autosomal dominant syndrome characterized by unusual skeletal changes, such as macrocephaly, facial asymmetry, hypertelorism, frontal and parietal bossing caused by germline mutations of the gene PTCH1. The Gorlin syndrome, clinically defined in 1963, existed during Dynastic Egyptian times, as revealed by a spectrum of skeletal findings compatible with the syndrome in mummies dating back to three thousand years ago and, most likely, in the ancient population of Pompeii. In the present research, we discuss the potential relationship between Pompeian wall paintings portrait and the cranio-metric bone changes revealed among the Pompeian skull collections assuming that the ancient portraits can constitute an important tool that should be strictly integrated with osteologic and biomolecular data in order to argue a syndromic diagnosis in ancient population.
Assuntos
Síndrome do Nevo Basocelular/genética , Síndrome do Nevo Basocelular/história , Osso e Ossos/patologia , Fácies , Mutação em Linhagem Germinativa , Pinturas/história , Receptor Patched-1/genética , Antropologia Médica , Síndrome do Nevo Basocelular/epidemiologia , Síndrome do Nevo Basocelular/patologia , Antigo Egito/epidemiologia , Expressão Gênica , Genes Dominantes , Grécia Antiga/epidemiologia , História Antiga , Humanos , Múmias/diagnóstico por imagem , Múmias/história , Prevalência , Cidade de Roma/epidemiologiaRESUMO
There are several genetic diseases with a wide spectrum of congenital bone stigmata in association to cutaneous and visceral benign and malignant neoplasms. Gorlin-Goltz syndrome, also named nevoid basal cell carcinoma syndrome, is an autosomal dominant systemic disease with almost complete penetrance and high intra-familial phenotypic variability, caused by germline mutations of the gene PTCH1. The syndrome is characterized by unusual skeletal changes and high predisposition to the development of multiple basal cell carcinomas, odontogenic keratocysts tumors and other visceral tumors. The Gorlin syndrome, clinically defined as distinct syndrome in 1963, existed during Dynastic Egyptian times, as revealed by a costellation of skeletal findings compatible with the syndrome in mummies dating back to 3000years ago and, most likely, in the ancient population of Pompeii. These paleogenetic and historical evidences, together with the clinical and biomolecular modern evidences, confirm the quite benign behavior of the syndrome and the critical value of the multiple and synchronous skeletal anomalies in the recognition of these rare and complex genetic disease.
Assuntos
Síndrome do Nevo Basocelular/genética , Síndrome do Nevo Basocelular/história , Osso e Ossos/patologia , Mutação em Linhagem Germinativa , Receptor Patched-1/genética , Antropologia Médica , Síndrome do Nevo Basocelular/epidemiologia , Síndrome do Nevo Basocelular/patologia , Egito/epidemiologia , Expressão Gênica , Genes Dominantes , Grécia/epidemiologia , História do Século XX , História Antiga , Humanos , Prevalência , Cidade de Roma/epidemiologiaRESUMO
The life of Giuseppe Moscati (1880-1927) as a man, as a physician and as a scientist may be framed within the cultural climate of Positivism, which spread over the last years of the 19th century and the beginning of the 20th Century. His activity contributed to patients' care improvement; in addition to meticulous drug regimens, he also prescribed a methodology of spiritual care, involving meditation and self-control as part of an holistic approach to healthcare. Our review deals with his published researches, highlighting the innovative findings on the juvenile diabetes treatment and extensive clinical changes consequent upon nephritis. This extraordinary man put considerable emphasis on primary care and holistic health in Italy, pioneering a new patient-centred, and holistic approach to medicine.
Assuntos
Médicos , Diabetes Mellitus/terapia , História do Século XIX , História do Século XX , Humanismo , Humanos , Itália , Masculino , Nefrite/terapiaRESUMO
Giuseppe Moscati was a physician, medical school professor and a pioneer in the field of biochemistry and Italian studies on diabetes. He was declared a Catholic saint in 1987. In order to respond better to both the physical and spiritual needs of his patients, he developed his own holistic approach to healthcare involving meticulous drug regimens, meditation and discipline.