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1.
Med Hypotheses ; 122: 134-138, 2019 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-30593397

RESUMEN

Cystic fibrosis, hereditary hemochromatosis and palmar fibromatosis are often described as "Celtic", based on their contemporary prevalence. The former two are among genetically defined disorders that seem to provide survival advantages to heterozygote individuals, while severe health problems happen in homozygote mutation carriers. Although palmar fibromatosis has no defined mutations, its prevalence has been linked to the prevalence of Y-Chromosome Haplogroup I that expanded after the Last Ice Age, thus making th distribution of all three "Celtic" diseases dependent on the global climate from 40 to 8 Kya. During the Last Ice Age, the global climate was dry and dark due to dust-laden atmosphere (20-25 times more than today). It has been postulated that skin pigmentation was related to insolation, UV protection and skin synthesis of vitamin D, so when our ancestors moved to Eurasia, individuals with pale skin became advantageous. Deficiency of vitamin D has several health consequences and some of them have been proposed by other authors as important for the spreading of cystic fibrosis mutations: rickets/osteomalacia; susceptibility to diarrheal diseases and tuberculosis and salt induced arterial hypertension. The here proposed link is between vitamin D deficiency and the anaemia of chronic disease that might have facilitated spreading of the hemochromatosis mutation. It seems plausible that the risk of health problems in the offspring of close relatives might have resulted in social taboos of consanguinity in Eurasian protosocieties. Ancient steam bath rituals seem linked to lower incidences of cystic fibrosis in several European populations, thus suggesting health protection in an arid, dusty climate of the last glaciation, that made CFTR mutations in heterozygote carriers less advantageous.


Asunto(s)
Clima , Fibrosis Quística/epidemiología , Contractura de Dupuytren/epidemiología , Polvo , Hemocromatosis/epidemiología , Migración Humana/historia , Anemia , Consanguinidad , Fibrosis Quística/genética , Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Contractura de Dupuytren/genética , Europa (Continente) , Hemocromatosis/genética , Heterocigoto , Historia Antigua , Homocigoto , Humanos , Mutación , Riesgo , Deficiencia de Vitamina D
2.
Microsurgery ; 24(1): 26-9, 2004.
Artículo en Inglés | MEDLINE | ID: mdl-14748021

RESUMEN

Dupuytren's disease (DD) is a proliferative disorder of autosomal-dominant inheritance, with variable penetrance of gene expression. The treatment of DD is challenging. Both operative and nonoperative approaches were reported for treatment of the disease, but no perfect approach has gained popularity as the best choice of treatment. Most of the emphasis has been placed on surgical techniques, but outcomes were reported to be dependent on some variables such as case selection, timing of surgery, and the surgeon's training and experience. In this paper, we report on a hyperbaric oxygen (HBO) treatment for early-phase DD. HBO treatment was applied to a female aged 23 years who had a mild form of DD. Physical findings and complaints before and after HBO treatment were compared. Total relief of symptoms as well as physical findings were obtained with HBO treatment. HBO for the treatment of DD is a novel concept. Having treated only one case is not enough to conclude that HBO is the only effective mode of treatment for DD. HBO should also be tried to treat early-phase or mild contractures of DD. Unfortunately, HBO has a disadvantage, i.e., cost. But HBO is not invasive, and because of the nature of HBO treatment, most of the complications seen after surgeries, e.g., wound-healing problems, damage to the digital nerves and vessels, buttonholing of the skin, and tendon sheath opening, are not seen.


Asunto(s)
Contractura de Dupuytren/terapia , Oxigenoterapia Hiperbárica , Adulto , Contractura de Dupuytren/genética , Femenino , Humanos , Factores de Tiempo
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