Nunez Serrano A.A.,Clinico Universitario |
Elena Sorando E.,Clinico Universitario |
Arranz Lopez J.L.,Clinico Universitario |
Garcia Martinez L.,Clinico Universitario
Cirugia Plastica Ibero-Latinoamericana | Year: 2010
Congenital Adrenal Hyperplasia is a rare patology, whith clinical expressions like female pseudohermaphroditism or true hermaphroditism. Females affected mainly suffer clitoral hypertrophy and external genitalia abnormalityes. The complete diagnosis includes: careful examination of the genitals, complementary imaging proofs, hormonal and genetic testing. The surgical correction of the external genitals and megaloclitoris improves the physical and psychological condition of patients and relatives. Many surgical procedures has been used to correct these malformations, such as total clitorectomy, clitoris reposition, and partial clitorectomy. We report a female patient with Congenital Adrenal Hyperplasia caused by enzyme 21-hydroxilasa deficit, who suffered severe masculinizing of the external genitals. We describe surgical correction. Patient gave birth successufully two times and her descendents have not genetic disorders.
Timmermann L.,University of Cologne |
Schupbach M.,University of Bern |
Schupbach M.,Center dInvestigation Clinique |
Hertel F.,Idar Oberstein Klinikum |
And 11 more authors.
European Neurology | Year: 2013
Background: Deep brain stimulation (DBS) is highly successful in treating Parkinson's disease (PD), dystonia, and essential tremor (ET). Until recently implantable neurostimulators were nonrechargeable, battery-driven devices, with a lifetime of about 3-5 years. This relatively short duration causes problems for patients (e.g. programming and device-use limitations, unpredictable expiration, surgeries to replace depleted batteries). Additionally, these batteries (relatively large with considerable weight) may cause discomfort. To overcome these issues, the first rechargeable DBS device was introduced: smaller, lighter and intended to function for 9 years. Methods: Of 35 patients implanted with the rechargeable device, 21 (including 8 PD, 10 dystonia, 2 ET) were followed before and 3 months after surgery and completed a systematic survey of satisfaction with the rechargeable device. Results: Overall patient satisfaction was high (83.3 ± 18.3). Dystonia patients tended to have lower satisfaction values for fit and comfort of the system than PD patients. Age was significantly negatively correlated with satisfaction regarding process of battery recharging. Conclusions: Dystonia patients (generally high-energy consumption, severe problems at the DBS device end-of-life) are good, reliable candidates for a rechargeable DBS system. In PD, younger patients, without signs of dementia and good technical understanding, might have highest benefit. Copyright © 2013 S. Karger AG, Basel.
Ibarrola-Villava M.,Clinico Universitario |
Pena-Chilet M.,Clinico Universitario |
Fernandez L.P.,Autonomous University of Madrid |
Aviles J.A.,Gregorio Maranon Hospital |
And 12 more authors.
European Journal of Cancer | Year: 2011
Background: Base excision repair (BER) and nucleotide excision repair (NER) pathways eliminate a wide variety of DNA damage, including UV photoproducts. The ability of each individual to repair DNA damage following different causes might explain at least in part the variability in cancer susceptibility. Moreover, inflammatory response to UV exposure may further contribute to skin carcinogenesis by oxidative stress mechanisms. Single nucleotide polymorphisms in genes encoding various DNA-repair enzymes and oxidative stress factors may be candidate low-penetrance variants with a role in susceptibility to different cancers, particularly in those with aetiologies linked to environmental exposure, such as malignant melanoma (MM). Methods: In this case-control study, 684 Spanish sporadic MM patients and 406 cancer-free control subjects were included and the role of 46 polymorphisms belonging to 16 BER and NER genes as well as 11 genes involved in oxidative stress processes were investigated. Results: One polymorphism was identified to be individually associated with MM in the Spanish population. The variant was found in the NOS1 oxidative stress gene (rs2682826; p-value = 0.01). These results suggest a putative role of oxidative stress processes in the genetic predisposition to melanoma. Conclusion: To the authors' knowledge, this is the largest DNA repair-related SNP study in melanoma risk conducted in the Spanish population up to now. Furthermore, it also represents a comprehensive genetic study of several oxidative stress polymorphisms tested in relation to MM susceptibility. © 2011 Elsevier Ltd. All rights reserved.
Cauli O.,Centro Investigacion Principe Felipe |
Cauli O.,University of Valencia |
Gonzalez-Usano A.,Centro Investigacion Principe Felipe |
Cabrera-Pastor A.,Centro Investigacion Principe Felipe |
And 14 more authors.
NeuroMolecular Medicine | Year: 2014
Treatment of patients with acute liver failure (ALF) is unsatisfactory and mortality remains unacceptably high. Blocking NMDA receptors delays or prevents death of rats with ALF. The underlying mechanisms remain unclear. Clarifying these mechanisms will help to design more efficient treatments to increase patient's survival. The aim of this work was to shed light on the mechanisms by which blocking NMDA receptors delays rat's death in ALF. ALF was induced by galactosamine injection. NMDA receptors were blocked by continuous MK-801 administration. Edema and cerebral blood flow were assessed by magnetic resonance. The time course of ammonia levels in brain, muscle, blood, and urine; of glutamine, lactate, and water content in brain; of glomerular filtration rate and kidney damage; and of hepatic encephalopathy (HE) and intracranial pressure was assessed. ALF reduces kidney glomerular filtration rate (GFR) as reflected by reduced inulin clearance. GFR reduction is due to both reduced renal perfusion and kidney tubular damage as reflected by increased Kim-1 in urine and histological analysis. Blocking NMDA receptors delays kidney damage, allowing transient increased GFR and ammonia elimination which delays hyperammonemia and associated changes in brain. Blocking NMDA receptors does not prevent cerebral edema or blood-brain barrier permeability but reduces or prevents changes in cerebral blood flow and brain lactate. The data show that dual protective effects of MK-801 in kidney and brain delay cerebral alterations, HE, intracranial pressure increase and death. NMDA receptors antagonists may increase survival of patients with ALF by providing additional time for liver transplantation or regeneration. © 2013 Springer Science+Business Media New York.
Ingles M.,University of Valencia |
Gambini J.,University of Valencia |
Gambini J.,Clinico Universitario |
Carnicero J.A.,Hospital Virgen Del Valle Complejo |
And 10 more authors.
Journal of the American Geriatrics Society | Year: 2014
Objectives To ascertain whether indicators of oxidative damage to lipids (malondialdehyde (MDA)) and proteins (protein carbonylation) are biomarkers of frailty, after adjusting for age, sex, and other possible confounders. Design Cross-sectional cohort study. Setting Community. Participants Toledo Study for Healthy Aging participants (N = 742, aged 65-95), classified as frail (n = 54), prefrail (n = 278) and nonfrail (n = 410) according to the Fried criteria. Measurements Blood plasma was obtained using centrifugation (1,500 G, 15 minutes) and immediately frozen at -80C. Plasma lipid peroxidation was determined by measuring the MDA formed from lipoperoxides using high-performance liquid chromatography and protein carbonylation was measured using Western blot. Results Age- and sex-adjusted levels of lipoperoxides (measured as MDA) and protein carbonylation in plasma proved to be related to frailty, even after including possible independent confounders. Conclusion Circulating oxidative damage biomarkers, such as MDA and protein carbonylation, are related to frailty and not to age or sex. These parameters may be considered as potential biomarkers of frailty in the context of a multidisciplinary health-promoting approach for older adults. © 2014, Copyright the Authors Journal compilation © 2014, The American Geriatrics Society.