Orejas en asa. Presentación de casos y revisión bibliográfica / Earpining. Presentation of cases and bibliographic review

Las orejas prominentes se deben a una o varias anomalías congénitas que pueden asociarse entre sí en grados diversos. Los pabellones auriculares son considerados demasiado visibles tanto por la falta de plegamiento del antihélix, la abertura del ángulo cefaloconchal y la hipertrofia de la concha, según la clasificación de Davis. Son un problema estético frecuente, observándose en el 5% de la población. El conocimiento de la anatomía del pabellón normal y de los criterios antropométricos es indispensable. El grosor del cartílago condiciona la rigidez y la elasticidad del pabellón, mientras que sus relieves definen la forma y la posición. La finalidad en la otoplastia es corregir estas anomalías, remodelando el cartílago para obtener unas orejas con una plicatura adecuada, situadas y orientadas según parámetros estéticos, simétricas, con un tamaño y aspecto natural. Se pueden combinar distintos procedimientos quirúrgicos los cuales deben ser simples, rápidos, tener un resultado armonioso y duradero. Se realizó una revisión retrospectiva entre los años 2018 a 2020 en el Servicio de Cirugía Plástica del Hospital Tornú, en la que se presentan 4 casos de orejas prominentes a los cuales se les realizaron diferentes técnicas quirúrgicas de otoplastia (Davis, Stentstrom y Furnas). El total de los pacientes (n=4) tratados presentó un resultado satisfactorio tanto para el paciente como para el equipo quirúrgico, sin complicaciones significativas. La resolución quirúrgica de las orejas prominentes puede realizarse mediante numerosas técnicas; estas se dividen entre aquellas que realizan un procedimiento agresivo sobre el cartílago (resectivas) y las que intentan ser más conservadoras, sin resección del mismo para evitar al máximo las complicaciones. La diversidad de enfoques indica que no existe una técnica definitiva para corregir estos problemas. Las orejas prominentes o en asa, si bien no presentan alteraciones funcionales, tienen consecuencias sobre los efectos estéticos y psicológicos en el paciente que pueden ser sustanciales. Es importante conocer su base anatómica y realizar una adecuada evaluación, elegir técnicas para la corrección de la deformidad y conocer las posibles complicaciones del procedimiento para obtener un buen resultado estético y duradero.

Prominent ears are due to one or more congenital anomalies that may be associated with each other to varying degrees. The pinnae are considered too visible due to the lack of folding of the antihelix, the opening of the cephalo-conchal angle and the hypertrophy of the concha, according to the Davis classification. They are a frequent esthetic problem, being observed in 5% of the population. Knowledge of normal pinna anatomy and anthropometric criteria is essential. The thickness of the cartilage determines the rigidity and elasticity of the pinna, while its relief defines its shape and position. The purpose of otoplasty is to correct these anomalies, remodeling the cartilage to obtain ears with an adequate plication, positioned and oriented according to aesthetic parameters, symmetrical, with a natural size and appearance. Different surgical procedures can be combined, which must be simple, fast, have a harmonious and lasting result. A retrospective review was performed from 2018 to 2020 in the Plastic Surgery Department of the Tornú Hospital, presenting 4 cases of prominent ears which underwent different otoplasty surgical techniques (Davis, Stentstrom and Furnas). The total number of patients (n=4) treated presented a satisfactory result for both the patient and the surgical team without significant complications. Surgical resolution of protruding ears can be performed by numerous techniques, divided between those that perform an aggressive procedure on the cartilage (resective) and those that try to be more conservative, without resection of the cartilage to avoid complications as much as possible. The diversity of approaches indicates that there is no definitive technique to correct these problems. Prominent or protruding ears, although they do not present functional alterations, the consequences on the esthetic and psychological effects on the patient can be substantial. It is important to know their anatomical basis and to perform an adequate evaluation, to choose techniques for the correction of the deformity and to know the possible complications of the procedure in order to obtain a good esthetic and lasting result.

Resolución de hipertrofia de labios menores mediante técnicas simples / Resolution of hypertrophy of the labia minora using simple techniques

Introducción. La hipertrofia de los labios menores se define como tejido labial que sobresale más allá de los labios mayores, puede afectar de manera uni- o bilateral y resultar en dispareunia, interferencia con los deportes, dificultades con la limpieza, irritación e infecciones crónicas del tracto urinario, incomodidad para el uso de prendas ajustadas, además de trastornos psicológicos. Todos estos motivos llevan a las mujeres a la consulta. La reducción de labios menores es el procedimiento estético genital femenino más común. Este trabajo tiene como objetivo presentar técnicas de baja complejidad para resolver diferentes grados de hipertrofia de labios menores. Materiales y métodos. Estudio retrospectivo, observacional que comprendió 3 pacientes entre el periodo de marzo del 2019 a febrero 2020 que Incluyó a pacientes con hipertrofias leves y moderadas. Resultados. En 2 pacientes se realizó escisión directa y en 1, técnica del desepitelizado más lipotransferencia de labios mayores, sin evidenciar complicaciones mayores. Discusión. Si bien en la literatura se han reportado un gran número de técnicas quirúrgicas, cada una de ellas debe adecuarse al tipo de hipertrofia labial. La técnica del desepitelizado permite conservar un borde natural, con conservación de la coloración y textura original de la paciente, aporte neurovascular, pero no es conveniente utilizarla en pacientes de grados mayores de hipertrofia. La escisión directa proporciona una técnica simple para la escisión del exceso de tejido en pacientes con mayor tamaño de sus labios menores, pero elimina el contorno, la coloración y la textura naturales del borde libre, aun así, las pacientes resultan conformes con su nuevo aspecto. Conclusión. La reconstrucción de los labios menores, utilizando las técnicas de desepitelización y escisión directa, es confiable y da un resultado cosmético y funcional exitoso. Estas técnicas son de baja complejidad, tiempo operatorio breve, técnicamente reproducibles, dando gran conformidad y resultando un método seguro

Introduction. Hypertrophy of the labia minora is defined as lip tissue that protrudes beyond the labia majora, can affect unilaterally or bilaterally and result in dyspareunia, interference with sports, difficulties with cleaning, irritation and chronic infections of the urinal tract, discomfort for wearing tight clothes, in addition to psychological disorders. All these reasons lead women to the consultation. Labia minora reduction is the most common female genital cosmetic procedure. This work aims to present low complexity techniques to resolve different degrees of hypertrophy of the labia minora. Materials and methods: retrospective, observational study that comprised 3 patients between the period of March 2019 to February 2020 that included patients with mild and moderate hypertrophy. Results: Direct excision was performed in 2 patients and in 1, de-epithelialization technique plus lipotransference of the labia majora. Without showing major complications. Discussion: Although a large number of surgical techniques have been reported in the literature, each of them must be adapted to the type of lip hypertrophy. The de-epithelialization technique allows a natural border to be preserved, with preservation of the patient's original color and texture, neurovascular supply, but it is not convenient to use it in patients with higher degrees of hypertrophy. Direct excision provides a simple technique for excision of excess tissue in patients with larger labia minora, but removes the natural contour, coloration and texture of the free edge, yet patients are still satisfied with their new appearance. Conclusion. The reconstruction of the labia minora, using de-epithelialization and direct excision techniques is reliable and gives a successful cosmetic and functional result. These are low complexity techniques, short operating time, technically reproducible, giving great conformity and resulting in a safe method

Factors associated with sepsis development in 606 Spanish adult patients with cellulitis.

BACKGROUND: Cellulitis, a frequent cause of admission of adult patients to medical wards, occasionally evolves to sepsis. In this study we analyze the factors related to sepsis development. METHODS: Prospective and observational study of 606 adult patients with cellulitis admitted to several Spanish hospitals. Comorbidities, microbiological, clinical, lab, diagnostic, and treatment data were analyzed. Sepsis was diagnosed according to the criteria of the 2016 International Sepsis Definitions Conference. Multiple logistic regression modelling was performed to determine the variables independently associated with sepsis development. RESULTS: Mean age was 63.4 years and 51.8% were men. Overall 65 (10.7%) patients developed sepsis, 7 (10.8%) of whom died, but only 4 (6.2%) due to cellulitis. Drawing of blood (P < 0.0001) or any (P < 0.0001) culture, and identification of the agent (P = 0.005) were more likely among patients with sepsis. These patients had also a longer duration of symptoms (P = 0.04), higher temperature (P = 0.03), more extensive cellulitis (P = 0.02), higher leukocyte (P < 0.0001) and neutrophil (P < 0.0001) counts, serum creatinine (P = 0.001), and CRP (P = 0.008) than patients without sepsis. Regarding therapy, patients with sepsis were more likely to undergo changes in the initial antimicrobial regimen (P < 0.0001), received more antimicrobials (P < 0.0001), received longer intravenous treatment (P = 0.03), and underwent surgery more commonly (P = 0.01) than patients without sepsis. Leukocyte counts (P = 0.002), serum creatinine (P = 0.003), drawing of blood cultures (P = 0.004), change of the initial antimicrobial regimen (P = 0.007) and length of cellulitis (P = 0.009) were independently associated with sepsis development in the multivariate analysis. CONCLUSIONS: Increased blood leukocytes and serum creatinine, blood culture drawn, modification of the initial antimicrobial regimen, and maximum length of cellulitis were associated with sepsis in these patients.

Fístula colecistocutánea espontánea / Spontaneous cholecystocutaneous fistula

Background: Spontaneous cholecystocutaneous fistula is a rare complication of acute cholecystitis. The incidence has decreased due to prompt and early surgical management of patients with acute cholecystitis. Case report: We report a 64 years old woman consulting for erythematous soft and non-tender mass in right flank. Ultrasound revealed the cholecystocutaneous fistula. The fistulous tract and the gallbladder were excised from average laparotomy.

Introducción: La fístula colecistocutánea es una rara complicación de la colecistitis aguda. La incidencia de esta patología ha disminuido debido al abordaje quirúrgico precoz de los pacientes con colecistitis aguda. Caso clínico: Reportamos el caso de una mujer de 64 años de edad que consulta por un nódulo con signos inflamatorios en el flanco derecho. La fístula fue diagnosticada mediante ecografía. La fístula y la vesícula fueron extirpadas mediante una laparotomía media.

Relation of the rs6923761 gene variant in glucagon-like peptide 1 receptor with weight, cardiovascular risk factor, and serum adipokine levels in obese female subjects.

BACKGROUND: Studies of the glucagon-like peptide 1 (GLP-1) receptor have been directed at identifying polymorphisms in the GLP-1 receptor gene that may be a contributing factor in the pathogenesis of diabetes mellitus and cardiovascular risk factors. Nevertheless, the role of GLP-1 variants on body weight, cardiovascular risk factors, and adipokines remains unclear in obese patients. OBJECTIVE: Our aim was to analyze the effects of rs6923761 GLP-1 receptor polymorphism on body weight, cardiovascular risk factors, and serum adipokine levels in nondiabetic obese females. DESIGN: A sample of 645 obese nondiabetic Caucasian females was enrolled in a prospective way. Basal fasting glucose, c-reactive protein (CRP), insulin, insulin resistance (homeostasis model assessment (HOMA)), total cholesterol, LDL cholesterol, HDL cholesterol, triglycerides concentration, and adipokines were measured. Weights, body mass index (BMI), waist circumference, fat mass by bioimpedance, and blood pressure measures were measured. RESULTS: Three hundred and twenty-seven participants (50.7%) had the genotype GG and 318 (49.3%) study subjects had the next genotypes; GA (270 study subjects, 41.9%) or AA (48 study subjects, 7.4%) (second group). In wild group (GG genotype), BMI (1.8 ± 2.3 kg/m(2) ; P < 0.05), weight (3.1 ± 1.3 kg; P < 0.05), fat mass (2.4 ± 1.1 kg; P < 0.05), waist circumference (2.7 ± 1.9 cm; P < 0.05), triglyceride levels (10.4 ± 5.3 mg/dl; P < 0.05), interleukin 6 (IL-6) (1.5 ± 0.9 ng/dl; P < 0.05), resistin (1.1 ± 0.3 ng/dl; P < 0.05), and leptin (30.1 ± 10.3 ng/dl; P < 0.05) levels were higher than mutant group (GA + AA). CONCLUSION: Data from our study revealed an association with decreased metabolic and cardiovascular markers in obese females. BMI weight, fat mass, waist circumference, triglycerides, leptin, resistin, and IL-6 serum levels were lower in subjects with A allele than non-A allele subjects.

Clinical effects of a hypercaloric and hyperproteic oral suplemment enhanced with W3 fatty acids and dietary fiber in postsurgical ambulatory head and neck cancer patients.

BACKGROUND: Patients with head and neck cancer undergoing surgery have a high risk of nutritional complications. OBJECTIVE: The aim of our study was to investigate the influence of a hypercaloric and hyperproteic oral supplement enriched with w3 FATTY ACIDS and fiber in clinical parameters in head and neck tumor postsurgical ambulatory patients with or without radiotherapy. DESIGN: A population of 37 ambulatory postsurgical patients with oral and laryngeal cancer was enrolled. At Hospital discharge postsurgical head and neck cancer patients were asked to consume two units per day of a hypercaloric and hyperproteic oral supplement for a twelve week period. RESULTS: The mean age was 63.8+/-7.1 years (16 female/ 21 males). Duration of supplementation was 98.1±19.1 days. A significant increase of albumin and transferrin levels was observed, in total group and in patients undergoing radiotherapy and without it. No differences were detected in weight and other anthropometric parameters in total group and in patients with radiotherapy during the protocol. Nevertheless, patients without radiotherapy showed a significant improvement of BMI; weight, fat free mass and fat mass. CONCLUSIONS: An omega 3 and fiber enriched formula improved seric protein levels in ambulatory postoperative head and neck cancer patients. Improvement of weight, fat mass and fat free mass was observed in patients whom not received radiotherapy during the follow up.

Antecedentes: Los pacientes con tumores de cabeza y cuello sometidos a cirugía presentan un alto riesgo de complicaciones nutricionales. Objetivo: El principal objetivo de nuestro trabajo fue evaluar la influencia de un suplemento hiperenergético e hiperproteico enriquecido en ácidos grasos w3 y fibra en pacientes postquirúrgicos ambulatorios con tumores de cabeza y cuello, con y sin radioterapia. Diseño: Una muestra de 37 pacientes postquirúrgicos ambulatorios con tumores de cabeza y cuello fue evaluada. Tras el alta hospitalaria, los pacientes recibieron dos envases al día de un suplemento hiperproteico e hipercalórico durante 12 semanas. Resultados: La edad media fue de 63.8+/-7.1 años (16 mujeres/21 varones). La duración media de la suplementación fue de 98.1±19.1 días. Se detectó un aumento significativo en los niveles de albúmina y transferrina en los pacientes del grupo global, en los que recibieron radioterapia y en los que no al recibieron. El peso y los parámetros antropométricos no mejoraron en el grupo global ni en los que recibieron radioterapia. Sin embargo los pacientes que no recibieron radioterapia tuvieron un aumento de la masa magra, peso y masa grasa Conclusiones: La formula enriquecida en omega 3 y fibra mejoró lo niveles de proteínas séricas. Por otra parte los pacientes que no recibieron radioterapia durante el seguimiento presentaron un aumento del peso, masa grasa y masa magra.

A randomized clinical trial with two doses of a omega 3 fatty acids oral and arginine enhanced formula in clinical and biochemical parameters of head and neck cancer ambulatory patients.

INTRODUCTION: Postsurgical patients with head and neck cancer could have a high rate of ambulatory complications. The aim was to investigate whether oral ambulatory nutrition of head and neck cancer patients with recent weight loss, using two different doses of an omega 3 fatty acids and arginine enhanced diets could improve nutritional parameters. DESIGN: At Hospital discharge post surgical head and neck cancer patients (n=37) were asked to consume two or three cans per day of a designed omega 3 fatty acid and arginine enhanced supplement for a twelve week period. RESULTS: Albumin, prealbumin, transferrin and lymphocytes levels improved in both groups. Weight, fat mass and fat free mass improved during supplementation in group II (3 bricks per day). No differences were detected in anthropometric parameters in group I. Gastrointestinal tolerance with both formulas was good, no episodes were reported. There are no differences between both formulas on postsurgical complications rates. CONCLUSIONS: Omega 3 and arginine enhanced formulas improved blood protein concentrations and lymphocyte levels in ambulatory postoperative head and neck cancer patients. A high dose of arginine and omega 3 fatty acids formula improved weight, too.

Effect of a commercial hypocaloric diet in weight loss and post surgical morbidities in obese patients with chronic arthropathy, a randomized clinical trial.

INTRODUCTION: The aim of our study was to evaluate in patients with obesity and surgical indication of orthopaedic surgery for chronic osteoarthritis (hip or knee), the impact on weight loss, metabolic control and post surgical co morbidities of a hypocaloric commercial formula (Optisource®) versus conventional nutritional advice before orthopaedic surgery. MATERIALS AND METHODS: 40 patients were randomized in both branches: diet I with lunch and dinner substituted by two Optisource® (1109.3 kcal/day, 166.4 g of carbohydrates (60%), 63 g of proteins (23%), 21.3 g of lipids 17%) and intervention II with nutritional counselling that decreases 500 cal/day of the previous dietary intake. Previous and after 3 months of the treatment, a nutritional and biochemical study was realized. Postsurgical co-morbities have been recorded. RESULTS: 20 patients finished in each group. The improvement in weight (-7.56 ± 5.2 kg vs -5.18 ± 5.1 kg: p < 0.05), body mass index (-3.15 ± 2.2 vs -2.1 ± 1.9 kg/m2: p < 0.05), fat mass (-5.5 ± 5.9 kg vs -3.0 ± 2.6 kg: p < 0.05), insulin (-3.6 ± 3.8 mUI/L vs -3.0 ± 2.6) p < 0.05) and HOMA (-0.5 4 ± 1.2 vs -0.33 ± 1.14): p < 0.05) was higher in group I than in group II. All post surgical recorded parameters such as minutes of orthopaedic surgery, length of stay, vein thrombosis episodes, general infections complications, haemoglobin levels and days till independence of walking were similar in both groups. CONCLUSIONS: Obese patients with chronic osteoarthritis subsidiary of surgery, lose more weight, fat mass and improve more resistance to insulin treated with a mixed diet with a commercial formula hypocaloric that patients treated only with dietary advice.

[Relation of the rs9939609 gene variant in FTO with cardiovascular risk factor and serum adipokine levels in morbid obese patients]. / Relación del polimorfismo rs9939609 del gen FTO con factores de riesgo cardiovascular y niveles de adipocitoquinas en pacientes con obesidad mórbida.

BACKGROUND: Common polymorphisms of the fat mass and obesity associated gene (FTO) have been linked to obesity in some populations. The aim of our study was to analyze the relationship of the rs9939609 FTO gene polymorphism on body weight, cardiovascular risk factors and serum adipokine levels in morbid obese patients. MATERIAL AND METHODS: A sample of 129 patients with obesity was analyzed in a cross sectional design. Weight, blood pressure, basal glucose, c-reactive protein (CRP), insulin, insulin resistance (HOMA), total cholesterol, LDL-cholesterol, HDL-cholesterol, triglycerides blood and adipocytokines (leptin, adiponectin, resistin, TNF alpha, and interleukin 6) levels were measured. A tetrapolar bioimpedance and a prospective serial assessment of nutritional intake with 3 days written food records were realized. Genotype of FTO gene polymorphism (rs9939609) was studied. RESULTS: Forty three patients (31.8%) had TT genotype, 55 patients (42.6%) TA genotype and 33 patients (25.6%) AA genotype. Body mass index (43.6 (2.6) kg/m² vs. 44.1 (2.9) kg/m²; p < 0.05), fat mass (52.0 (12.5) kg vs. 56.3 (11.7) kg: p < 0.05), weight (111.6 (16.2) kg vs. 114.9 (18.9) kg; p < 0.05), levels of C reactive protein (6.1 (4.3) mg/dl vs. 9.8 (7.1) mg/dl; p < 0.05) and levels of leptin (65.9 (52.2) ng/ml vs. 110.9 (74.1); < 0.05) were higher in mutant type group (A allele) than wild genotype group (TT). CONCLUSION: The FTO gene polymorphism, rs9939609, was found to be associated with weight, fat mass, C reactive protein and leptin levels in morbid obese patients with A allele.

[Everyday anisocoria: anisocoria epidemiology in a secondary care setting]. / Anisocoria cotidiana: epidemiología de la anisocoria en un centro de nivel secundario.

OBJECTIVE: [corrected] To determine the relative importance of the different forms of anisocoria in a General Hospital. METHODS: A prospective, longitudinal study was conducted including all patients referred for this reason to the Neuro-Ophthalmology Unit of the Henares University Hospital, Madrid (Spain), from November 2008 to October 2011. The differences in pupil diameter were studied under high and low luminosity. The patients were given a full ophthalmological examination, as well as performing the apraclonidine, cocaine, pilocarpine 0.125% and pilocarpine 2% tests, if they were considered necessary. RESULTS: Thirty-two cases of anisocoria were referred during the three years of the study. No relationship was found with age or gender. The diagnostic results were: Adie's pupil, 4 cases; Horner syndrome, 5 cases; benign episodic unilateral mydriasis, 3 cases; local causes, 4 cases; physiological anisocoria, 5 cases. Despite a full clinical history and examination, the cause of the anisocoria could not be determined in 11 cases. In 4 of these cases, the patient suffered from migraines and in another 4 psychotropic drugs were taken. Both risk factors were present in 3 cases. In one case the anisocoria was the initial clue that led to the diagnosis of a cervical paraganglioma. CONCLUSIONS: Anisocoria is a clinical sign that does not usually signify a serious disease. With our protocols, a high number of anisocoria cases are still of unknown origin. Migraines and psychotropic drugs could be linked to these forms of anisocoria.

Effect of a probiotic on liver aminotransferases in nonalcoholic fatty liver disease patients: a double blind randomized clinical trial.

OBJECTIVE: The present pilot trial was carried out to evaluate the effects of an acute treatment with a mixture containing 500 million of Lactobacillus bulgaricus and Streptococcus thermophilus per day in patients with non alcoholic fatty liver disease (NAFLD). RESEARCH METHODS: A sample of 30 patients with NAFLD (diagnosed by liver biopsy) was enrolled and 28 patients were analyzed in a double blind randomized clinical trial. Patients were randomized to one of the following treatments during 3 months: group I, treated with one tablet per day with 500 million of Lactobacillus bulgaricus and Streptococcus thermophilus and group II, treated with one placebo tablet (120 mg of starch). RESULTS: In group I, alanine amino transferase (ALT: 67.7 +/- 25.1 vs. 60.4 +/- 30.4 UI/L; p < 0.05), aspartate aminotransferase activity (AST: 41.3 +/- 15.5 vs. 35.6 +/- 10.4 UI/L; p < 0.05) and gammaglutamine transferase levels (gammaGT: 118.2 +/- 63.1 vs. 107.7 +/- 60.8 UI/L; p < 0.05) decreased. In group II, all liver function parameters remained unchanged (ALT: 60.7 +/- 32.1 vs. 64.8 +/- 35.5 UI/L; p < 0.05), aspartate aminotransferase activity (AST: 31.7 +/- 13.1 vs. 36.4 +/- 13.8 UI/L; ns) and gammaglutamine transferase levels (gammaGT: 82.1 +/- 55.1 vs. 83.6 +/- 65.3 UI/L; ns). Anthropometric parameters and cardiovascular risk factors remained unchanged after treatment in both groups. CONCLUSION: A tablet of 500 million of Lactobacillus bulgaricus and Streptococcus thermophilus, with a randomized clinical design, improved liver aminotransferases levels in patients with NAFLD.

Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey.

BACKGROUND AND PURPOSE: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by mutations in the CYP27A1 gene resulting in sterol-27-hydroxylase deficiency. Current information about CTX is based mainly on case reports, with only few large series reported. Although perceived as a potentially treatable condition, efficacy of chenodeoxycholic acid plus statin therapy remains unclear. To perform a nationwide survey of confirmed cases, with a thorough analysis of genotype-phenotype data and prognostic factors. METHODS: Retrospective review of the clinical and epidemiological aspects and mutations of all the patients diagnosed since 1992 in the main reference centers for genetic testing of CTX in Spain. RESULTS: Twenty-five patients from 19 families were identified. An average delay of 19 years was observed between symptom onset and clinical diagnosis. Two main clinical subgroups were recognizable: a classic form (cerebellar and other supratentorial symptoms) and a spinal form (chronic myelopathy). Cholestanol levels did not correlate with clinical presentation, severity or response to therapy. Despite treatment, five patients died during follow-up, one to 4 years after diagnosis. Thirteen different mutations were identified, with a higher frequency of p.R395C in Northwestern Spain and p.R405W in Southern Spain. None of the mutations could be associated with a particular clinical feature combination or prognosis. CONCLUSIONS: This is the first nationwide extensive series of CTX reported in Spain. The higher number of cases in some areas suggests a possible founder effect. Spinal forms had a less severe prognosis. A delayed diagnosis could contribute to the lack of significant response to treatment.

Roles of G1359A polymorphism of the cannabinoid receptor gene (CNR1) on weight loss and adipocytokines after a hypocaloric diet.

BACKGROUND: A intragenic biallelic polymorphism (1359 G/A) of the CB1 gene resulting in the substitution of the G to A at nucleotide position 1359 in codon 435 (Thr), was reported as a common polymorphism in Caucasian populations. Intervention studies with this polymorphism have not been realized. OBJECTIVE: We decided to investigate the role of the polymorphism (G1359A) of CB1 receptor gene on adipocytokines response and weight loss secondary to a lifestyle modification (Mediterranean hypocaloric diet and exercise) in obese patients. DESIGN: A population of 94 patients with obesity was analyzed. Before and after 3 months on a hypocaloric diet, an anthropometric evaluation, an assessment of nutritional intake and a biochemical analysis were performed. The statistical analysis was performed for the combined G1359A and A1359A as a group and wild type G1359G as second group, with a dominant model. RESULTS: Forty seven patients (50%) had the genotype G1359G (wild type group) and 47 (50%) patients G1359A (41 patients, 43.6%) or A1359A (6 patients, 6.4%) (mutant type group) had the genotype. In wild and mutant type groups, weight, body mass index, fat mass, waist circumference and systolic blood pressure decreased. In mutant type group, resistin (4.15 ± 1.7 ng/ml vs. 3.90 ± 2.1 ng/ml: P < 0.05), leptin (78.4 ± 69 ng/ml vs 66.2 ± 32 ng/ml: P < 0.05) and IL-6 (1.40 ± 1.9 pg/ml vs 0.81 ± 1.5 pg/ml: P < 0.05) levels decreased after dietary treatment. CONCLUSION: The novel finding of this study is the association of the mutant allele (A1359) with a decrease of resistin, leptin and interleukin-6 secondary to weight loss.

[Usefulness of cholestanol levels in the diagnosis and follow-up of patients with cerebrotendinous xanthomatosis]. / Utilidad de los niveles de colestanol en el diagnóstico y seguimiento de los pacientes con xantomatosis cerebrotendinosa.

INTRODUCTION: cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disease caused by a deficiency of mitochondrial enzyme sterol 27-hydrolylase. Such a deficiency results in a reduced production of chenodeoxycholic acid and in an increased formation of cholestanol. It is clinically characterized by cataracts, diarrhoea, xanthomas, premature arteriosclerosis and a number of progressive neurological symptoms. Although cholestanol levels are used for the diagnosis of CTX, their correlation with the clinical symptoms and their prognostic usefulness have not been assessed so far. METHODS: we reviewed 14 CTX patients diagnosed between 1995 and 2008 in two reference centres for the genetic diagnosis of this disorder, whose cholestanol levels had been recorded. We studied the main demographic, clinical and therapeutical data and their correlation with plasma cholestanol levels. RESULTS: the average cholestanol level at diagnosis was 105.8 µmol/l. These levels did not correlate with any neurological symptoms or with disability at diagnosis scored by the EDSS. After treatment, all patients achieved a significant reduction in plasma cholestanol levels (average reduction of 91 µmol/l in an average follow-up of 34 months), although only one patient remained clinically stable. CONCLUSIONS: high cholestanol levels are very useful for diagnosis of CTX but they do not have a prognostic value (they do not correlate with severity). Normalisation of cholestanol levels is not always associated with clinical stabilisation. However, follow-up of cholestanol levels can be useful for the dose adjustment.

Allelic frequency of G380A polymorphism of tumor necrosis factor alpha gene and relation with cardiovascular risk factors and adipocytokines in obese patients.

BACKGROUND: The aim of our study was to investigate the allelic frequency of the G308A polymorphism in the TNF alpha gene and the influence of G308A this polymorphism on cardiovascular risk factors and adipokine levels in obese patients. DESIGN: A population of 834 obesity patients was analyzed. A nutritional evaluation and a blood analysis were performed. The statistical analysis was performed for the combined G308A and A308A as mutant group and type G308G as wild group. RESULTS: A total of 630 patients (181 males/449 females) (75.5%) had the genotype G308/G308 (wild genotype group) with an average age of 43.5 ± 14.8 years, 188 patients (61 males/127 females) (22.5%) had the genotype G308/A308 (mutant genotype group-heterozygote) and 16 patients (5 males/11 females) (1.9%) with an average age of 44.5 ± 14.2 years had the genotype A308/A308 (mutant group-homorozygote) with an average age of 44.3 ± 11.4 years, without statistical differences in the mean age or sex distribution. Genotypes G308/A308 and A308/A308 was designed (mutant genotype group) as a dominant model. Allelic frequency of the A substitucion -308 was 13.19%. Anthropometric, adipokines, insulin resistance, lipid levels ad dietary intake were similar in both genotypes. CONCLUSION: In conclusion, allelic frequency of G308A polymorphism is is in accordance with allelic frequencies observed in other populations. Carries of A308 allele have the same anthropometric and metabolic profile than wild type carriers.

[Dietary intakes in a group of marihuana smoking patients]. / Ingesta dietética en un grupo de pacientes fumadores de marihuana.

BACKGROUND: Marihuana use has effects on appetite; studies in the literature on this topic area are limited. The aim of our work was to evaluate the dietary intake of marihuana smoking patients. PATIENTS AND METHODS: A total of 32 male subjects were enrolled (average age 37.25 +/- 8.8 years). In all patients were determined weight, height and body mass index and a three days nutritional questionnaire. RESULTS: Total calories intakes were higher (3,350.1 +/- 979 kcal/day). Distribution of calories was 44.3% of carbohydrates, 14% of proteins and 41.7% of lipids (50.6% mono-unsaturate fats, 36.3% saturate fats and 13.1% poluunsaturated fats). Total protein intake was 109.6 +/- 38.5 g/day and corrected by weight was 1.62 +/- 0.73 g/kg. Low intake of vitamin D, E, folic, magnesium and iodine were detected. High intake of vitamin A, C, K, thiamine, riboflavine, B6, niacin, B12, calcium, iron and zinc were observed. No statistical differences in dietary intake or weight were detected between groups of marihuana users by median of consumption time of this drug. CONCLUSIONS: Marihuana smoking patients realized a hipercloric and hiperproteic diet, with high amounts of fats and with an intake of micronutrients above international recommendations. This dietary intake has not related with weight.

Relation of resistin levels with cardiovascular risk factors, insulin resistance and inflammation in naïve diabetes obese patients.

BACKGROUND: The aim of the present study was to explore the relationship of resistin levels with cardiovascular risk factors, insulin resistance and inflammation in naïve diabetic patients. SUBJECTS: A population of 66 naïve diabetic patients with obesity was analyzed. A complete nutritional and biochemical evaluation was performed. RESULTS: The mean age 56.9+/-11.6 years and the mean BMI was 37.8+/-6.3. Patients were divided in two groups by median resistin value (3.3ng/ml), group I (patients with the low values, average value 2.5+/-0.5) and group II (patients with the high values, average value 4.8+/-1.8). Patients in the group I had lower waist circumference, total cholesterol, LDL-cholesterol and C-reactive protein than patients in group II. Correlation analysis showed a significant correlation among resistin levels and the independent variables; BMI (r=0.26; p<0.05), waist circumference (r=0.38; p<0.05), fat mass (r=0.28; p<0.05), LDL-cholesterol (r=0.3; p<0.05), C-reactive protein (r=0.28; p<0.05). In the multivariate analysis, resistin concentration increase 0.024ng/ml (CI 95%: 0.006-0.42) for each mg/dl of C-reactive protein. CONCLUSION: Circulating resistins are associated with C-reactive protein in an independent way in naïve diabetic patients.

Effect of simplification from protease inhibitors to boosted atazanavir-based regimens in real-life conditions.

BACKGROUND: Atazanavir (ATV) boosted with ritonavir (ATV/r) is a potent, well-tolerated, once-daily protease inhibitor (PI). Few data are available on this agent as a treatment simplification option for patients taking other PIs. OBJECTIVE: The aim of the study was to determine the effectiveness and safety of ATV-containing regimens in patients who have simplified their antiretroviral treatment. METHODS: SIMPATAZ was a multicentre, prospective, noninterventional study in patients who had undetectable HIV RNA on their current PI-containing therapy and who were switched to an ATV/r-based regimen. Patients underwent a routine physical examination, and data were collected on HIV RNA levels, CD4 cell counts, liver function, lipid parameters, adverse reactions, adherence to treatment and patient satisfaction. RESULTS: A total of 183 patients were enrolled in the study and included in the analysis (80% were male, 29% had AIDS, and 52% were coinfected with HIV and hepatitis B virus or hepatitis C virus). The median baseline CD4 count was 514 cells/µL. Median exposure to previous HIV therapy was 8 years, and 32% of patients had a history of PI failures. Lopinavir boosted with ritonavir was the most frequent PI replaced (62%) and tenofovir+lamivudine /emtricitabine the backbone most used during the study (29%). The study drug was discontinued early by 25 patients (14%), two of whom discontinued as a result of adverse events (Hodgkin lymphoma and vomiting). Two patients died (lung cancer and myocardial infarction). At month 12, 93% of the study population had an undetectable HIV RNA viral load. Hyperbilirubinaemia >3 mg/dL and increased alanine aminotransferase levels>200 IU/L were observed in 38.5% and 4.4% of patients, respectively. Median changes from baseline to month 12 in total cholesterol, triglycerides and low-density lipoprotein cholesterol were -13 mg/dL (-7%; P<0.0001), -19 mg/dL (-13%; P<0.0001) and -7 mg/dL (-6%; P=0.021), respectively. CONCLUSIONS: In a real-world setting, switching from other PIs to ATV/r is a well-tolerated and safe option for improving the lipid profile and for retaining virological response in controlled pretreated patients.

Cerebrotendinous xanthomatosis: neuropathological findings.

Cerebrotendinous xanthomatosis is an inherited autosomal recessive lipid storage disease caused by a 27-hydroxylase enzyme deficiency, characterised clinically by tendon xanthomas, premature cataracts, chronic diarrhoea and progressive neurologic dysfunction. The disease is very uncommon and there are very few pathological descriptions. We report a 52-year-old male who presented with a neuropsychiatric disorder and cognitive decline. Despite treatment the patient developed optic atrophy, parkinsonism and dementia and died. The autopsy revealed a nonspecific brain and cerebellar atrophy. Under microscopic examination, lipid crystal clefts, neuronal loss, demyelination, reactive astrocytosis and perivascular macrophages were found. These findings suggest the limited reversibility of the disease, and its poor prognosis, specially if treatment is not started early.

[Tethered cord syndrome in the adult]. / Síndrome de médula anclada en el adulto.

INTRODUCTION: The tethered cord syndrome (TCS) is a congenital malformation with a pathologic fixation of the spinal cord in the spinal canal. It presents clinically as musculoskeletal, cutaneous, urological and neurological manifestations. The diagnosis is based on the clinical manifestations and on the MRI (Magnetic Resonance Imaging) of the lumbar spine. It is usually diagnosed in childhood, but the symptoms can appear in adult life. METHOD: We reviewed all the cases of TCS in the adult diagnosed in our hospital between 1998 and 2005. The following parameters were evaluated: mean age at onset, initial symptoms, signs, MRI findings and outcome. RESULTS: Four 22 to 72 year old patients were diagnosed. The age at onset varied from 16 to 52 years old and the diagnosis took between 2 and 20 years to be established. The most frequent initial symptoms were the muscular atrophy and the motor weakness in the lower extremities. Two patients exhibited cutaneous stigmata (one had hypertrichosis and the other one a lipoma in the sacrum area) and one a partial agenesis of the sacrum. The most frequent MRI finding was a low lying cord with a lipoma in the sacrum area. In three patients the cord was detethered surgically, but only two of them improved. CONCLUSIONS: The TCS is an uncommon disease in adult, which is usually diagnosed very late in the adult. Because of its insidious and non specific symptomatology, and of its potential surgical treatment, it should be considered in the differential diagnosis of medullar syndromes and polyneuropathies.