RESUMEN
BACKGROUND: To determine the capability of 99mTc-DPD scintigraphy to detect early cardiac involvement and predict clinical worsening in transthyretin (TTR) gene mutation patients. METHODS: Eleven mutated subjects with normal interventricular septum (IVS) thickness, NT-proBNP level and no cardiac symptoms underwent three seriate 99mTc-DPD scans (visually and semiquantitatively analyzed), and was followed-up for 5-8-years. RESULTS: Six patients showed no myocardial accumulation in all scans. Increased IVS thickness occurring in one patient 4 years after the last scan was the only abnormal finding in these patients; no cardiac symptoms developed during the follow-up. In three patients, cardiac radiotracer uptake was found at enrollment; other laboratory/instrumental abnormal findings occurred later and cardiac symptoms developed during the follow-up period. Two patients had a negative 99mTc-DPD scan at enrollment and showed cardiac uptake in the following scans. Increased mean left-ventricular (LV) wall thickness was found 3 years after positive scintigraphy; NT-proBNP increased later in one patient. These patients developed cardiac symptoms during the follow-up period. CONCLUSIONS: 99mTc-DPD scan detects cardiac involvement in subjects with TTR gene mutation earlier than ECG, echocardiography and biochemical markers, occurring some years before the fulfillment of current diagnostic criteria for cardiac amyloidosis. A positive 99mTc-DPD scan predicts cardiac symptoms onset.
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Neuropatías Amiloides Familiares/diagnóstico por imagen , Cardiomiopatías/diagnóstico por imagen , Mutación/genética , Imagen de Perfusión Miocárdica , Compuestos de Organotecnecio , Prealbúmina/genética , Compuestos de Azufre , Adulto , Anciano , Neuropatías Amiloides Familiares/genética , Cardiomiopatías/genética , Progresión de la Enfermedad , Femenino , Humanos , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Estudios Prospectivos , Factores de TiempoRESUMEN
Duchenne muscular dystrophy (DMD) is an X-linked recessive muscle disease characterized by secondary osteoporosis and increased fractures. We describe the case of a 20-year-old boy with DMD suffering from back pain due to multiple vertebral fractures who was treated with teriparatide. Improvement of bone density, pain, and quality of life was achieved. DMD is an X-linked recessive muscle disease with secondary osteoporosis and related frequently occurring fractures. To date, only bisphosphonates have been used to treat osteoporosis in DMD. Black bear parathyroid hormone has been previously reported to enhance bone mass in the dystrophin-deficient mouse. This study reports the positive effect of osteoanabolic treatment with once-daily recombinant human parathyroid hormone 1-34 (rhPTH 1-34, teriparatide) in a 20-year-old DMD boy suffering from multiple vertebral fractures causing back pain. Bone formation and resorption markers (osteocalcin and C-telopeptide of type I collagen, respectively), as expected, increased within 6 months and intensity of back pain early decreased, with no pain reported after 6 months at visual analog scale. Over a 18-month period of treatment with teriparatide, bone mineral density and quality of life, assessed by the 36-item short-form questionnaire, considerably improved and no side effects were reported. Further studies on large cohorts are warranted to test the efficacy of this promising treatment for DMD related osteoporosis.
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Conservadores de la Densidad Ósea/uso terapéutico , Densidad Ósea/efectos de los fármacos , Distrofia Muscular de Duchenne/tratamiento farmacológico , Osteoporosis/tratamiento farmacológico , Calidad de Vida , Teriparatido/uso terapéutico , Humanos , Masculino , Adulto JovenRESUMEN
BACKGROUND AND PURPOSE: Charcot-Marie-Tooth (CMT) disease is the most common inherited neuropathy, but therapeutic options have been limited to symptom management. Past pharmacological trials have failed, possibly due to insensitive outcome measures (OMs). The aim of the current study was to evaluate the validity and reliability of the 6-min walk test (6MWT) and StepWatch(™) Activity Monitoring (SAM) with other previously validated OMs in CMT disease. METHODS: A prospective multicenter study was performed, consecutively enrolling 168 CMT patients (104 with CMT1A, 27 with CMT1B, 37 with X-linked CMT) from Italian centers specializing in CMT care. RESULTS: Statistical analysis showed that the 6MWT was highly related with all previously used OMs. Some, but not all, SAM parameters were related to commonly used OMs but may provide more information about quality of life. CONCLUSIONS: The current study demonstrated the validity and reliability of the 6MWT and SAM as OMs for CMT. Moreover, SAM provides data that correlate better with quality of life measures, making it useful in future rehabilitation trials.
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Enfermedad de Charcot-Marie-Tooth/diagnóstico , Calidad de Vida , Caminata , Adolescente , Adulto , Anciano , Enfermedad de Charcot-Marie-Tooth/fisiopatología , Femenino , Humanos , Italia , Masculino , Persona de Mediana Edad , Monitoreo Fisiológico , Evaluación de Resultado en la Atención de Salud , Estudios Prospectivos , Reproducibilidad de los Resultados , Prueba de Paso , Adulto JovenRESUMEN
BACKGROUND AND PURPOSE: Charcot-Marie-Tooth disease (CMT) type 1A is characterized by uniformly reduced nerve conduction velocity (NCV) that is fully penetrant since the first years of life, remains fairly stable through the life and does not correlate with disability whereas compound muscular action potential (CMAP) amplitude does. The aim of the present study was to analyze the large amount of electrophysiological data collected in the ascorbic acid trial in Italy and the UK (CMT-TRIAAL/CMT-TRAUK) and to use these data to gain insights into the pathophysiology of NCV in CMT1A. METHODS: Baseline electrophysiological data from 271 patients were analysed. Electrophysiological recordings were taken from the motor ulnar, median and peroneal nerves and the sensory ulnar nerve. Distal motor latency (DML), motor (MNCV) and sensory (SNCV) nerve conduction velocity, and amplitudes of CMAPs and sensory action potentials were assessed. Electrophysiological findings were correlated with age of patients at examination and the Charcot-Marie-Tooth Examination Score (CMTES). RESULTS: NCV was markedly and uniformly reduced. CMAP amplitudes were overall reduced but more severely in lower limbs. DML decreased and MNCV and SNCV increased with age of the patients, whereas CMAP amplitudes worsened with age and also correlated with CMTES. CONCLUSIONS: This is the largest sample of electrophysiological data obtained so far from CMT1A patients. Axonal degeneration as assessed by means of CMAP amplitude reflected clinical impairment and was consistent with a slowly progressive length-dependent neuropathy. All patients typically had markedly slowed NCV that did, however, slightly increase with age of the patients. The improvement of NCV might depend on myelin thickness remodelling that occurs during the adult life of CMT1A patients.
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Potenciales de Acción/fisiología , Enfermedad de Charcot-Marie-Tooth/fisiopatología , Conducción Nerviosa/fisiología , Adolescente , Adulto , Anciano , Femenino , Humanos , Italia , Masculino , Persona de Mediana Edad , Adulto JovenRESUMEN
BACKGROUND AND PURPOSE: Charcot-Marie-Tooth disease (CMT) is a very slowly progressive neuropathy which makes it difficult to detect disease progression over time and to assess intervention efficacy. Experience from completed clinical trials with ascorbic acid and natural history studies confirm difficulties in detecting such changes. Consequently, sensitive-to-change outcome measures (OMs) are urgently needed. METHODS: The relative responsiveness of clinical scales of the Italian-UK ascorbic acid trial (placebo arm) were assessed by using the standardized response mean (SRM), which is the ratio of the paired scores mean change over time to the standard deviation of the score change (0 is worst responsiveness). RESULTS: Little worsening of OM scores was found over 2 years. In detail, the primary OM of the trial, the CMT Neuropathy Score version 1 (CMTNSv1), showed low responsiveness (SRM 0.13). Some CMTNS items showed slightly greater responsiveness (CMT Examination Score 0.17; CMTNS Signs 0.19). Myometric assessments of handgrip and foot dorsiflexion strength were the most responsive (SRM -0.31 and -0.38, respectively). Amongst the other measures, the nine-hole peg test, which assesses upper limb functioning, showed the best sensitivity to change (SRM 0.28). CONCLUSIONS: Overall these OMs showed low or negligible responsiveness, confirming the need to improve current OMs and to develop novel ones for prognostic and interventional studies. However, handgrip and foot dorsiflexion myometry are worth retaining for future trials as they were the most responsive and are likely to be clinically relevant for patients.
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Enfermedad de Charcot-Marie-Tooth/diagnóstico , Prueba de Esfuerzo/métodos , Evaluación de Resultado en la Atención de Salud/métodos , Adulto , Enfermedad de Charcot-Marie-Tooth/tratamiento farmacológico , Ensayos Clínicos como Asunto , Prueba de Esfuerzo/normas , Femenino , Humanos , Masculino , Persona de Mediana Edad , Evaluación de Resultado en la Atención de Salud/normasRESUMEN
BACKGROUND: In overwork weakness (OW), muscles are increasingly weakened by exercise, work or daily activities. Although it is a well-established phenomenon in several neuromuscular disorders, it is debated whether it occurs in Charcot-Marie-Tooth disease (CMT). Dominant limb muscles undergo a heavier overload than non-dominant and therefore if OW occurs we would expect them to become weaker. Four previous studies, comparing dominant and non-dominant hand strength in CMT series employing manual testing or myometry, gave contradictory results. Moreover, none of them examined the behaviour of lower limb muscles. METHODS: We tested the OW hypothesis in 271 CMT1A adult patients by comparing bilateral intrinsic hand and leg muscle strength with manual testing as well as manual dexterity. RESULTS: We found no significant difference between sides for the strength of first dorsal interosseous, abductor pollicis brevis, anterior tibialis and triceps surae. Dominant side muscles did not become weaker than non-dominant with increasing age and disease severity (assessed with the CMT Neuropathy Score); in fact, the dominant triceps surae was slightly stronger than the non-dominant with increasing age and disease severity. DISCUSSION: Our data does not support the OW hypothesis and the consequent harmful effect of exercise in patients with CMT1A. Physical activity should be encouraged, and rehabilitation remains the most effective treatment for CMT patients.
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Enfermedad de Charcot-Marie-Tooth/complicaciones , Debilidad Muscular/etiología , Adolescente , Adulto , Anciano , Enfermedad de Charcot-Marie-Tooth/fisiopatología , Trastornos de Traumas Acumulados/etiología , Trastornos de Traumas Acumulados/fisiopatología , Femenino , Lateralidad Funcional/fisiología , Fuerza de la Mano/fisiología , Humanos , Masculino , Persona de Mediana Edad , Fuerza Muscular/fisiología , Debilidad Muscular/fisiopatología , Músculo Esquelético/fisiopatología , Adulto JovenRESUMEN
INTRODUCTION: Sexually transmitted infections (STIs) are considered a serious public health problem worldwide, affecting especially young people. The international monitoring data indicate that 70% of patients with STIs are aged between 15 and 24 years and the World Health Organization estimates that one out of 20 teenagers contracts an STI each year. We wanted to evaluate, through this work, what high school students of Messina know about the STIs. MATERIAL AND METHODS: From February to May 2013 questionnaires were distributed to students of the last three classes of seven high schools, three of which belonging to humanistic area and four to technical area. The completed questionnaires collected were 1588. RESULTS AND DISCUSSION: The investigation carried out showed a better knowledge of the STIs by students of humanistic schools than students of technical-scientific schools, the percentage of correct answers was 74% and 60% respectively; this probably also depends on the family context, in fact, there is a statistically significant correlation between the percentage of correct answers and parents education level. Young people have a limited knowledge on the subject. We concluded our work by stressing the importance and the need to deepen and improve the training and information of the medical staff teachers and families, as it is from their knowledge and their ability to provide complete and accurate information about the risks posed by STIs that can derive knowledge and choices of appropriate lifestyle between the youth population.
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Infecciones por VIH , Conocimientos, Actitudes y Práctica en Salud , Instituciones Académicas/estadística & datos numéricos , Conducta Sexual/estadística & datos numéricos , Enfermedades de Transmisión Sexual , Adolescente , Condones/estadística & datos numéricos , Femenino , Humanos , Masculino , Sicilia , EstudiantesRESUMEN
INTRODUCTION: Currently the most widely used methods for endoscopic control of esophageal varices bleeding are sclerotherapy and rubber band ligation. Although the superiority of band ligation (BL) over endoscopic sclerotherapy (SCL) for the secondary prophylaxis of variceal hemorrhage has been proven, the best approach for acute bleeding remains controversial. PATIENTS AND METHODS: We performed a retrospective study between January 2005 and May 2013. We selected 104 patients with gastrointestinal hemorrhage from rupture of esophageal varices treated with endoscopic sclerotherapy. The sclerosing agent used was 1% polidocanol in 89 cases, butyl-cyanoacrylate in 8 cases and sodium tetradecylsulfate in 4 cases. In 3 cases had not been carried sclerosis because it was not possible to identify the bleeding site. RESULTS: Among the 101 patients who underwent endoscopic sclerotherapy 4 presented re-bleeding within 12 hours from first treatment. Other 10 patients (9.9%) presented re-bleeding within a 5-days period. The most frequent complication was ulceration, observed in 4 cases (3.8%). There was only one case of perforation treated conservatively. CONCLUSIONS: The general improvement in the results of the treatment of variceal acute bleeding might be attributed to better clinical management of these patients. In literature no consensus exists regarding the preferred endoscopic treatment. To date, there is no single method applicable to all patients with bleeding esophageal varices, but sclerotherapy is considered effective, safe and repeatable in experienced hands.
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Enbucrilato/administración & dosificación , Várices Esofágicas y Gástricas/terapia , Esofagoscopía , Hemorragia Gastrointestinal/terapia , Polietilenglicoles/administración & dosificación , Soluciones Esclerosantes/administración & dosificación , Escleroterapia , Tetradecil Sulfato de Sodio/administración & dosificación , Adulto , Anciano , Várices Esofágicas y Gástricas/complicaciones , Femenino , Hemorragia Gastrointestinal/etiología , Humanos , Ligadura/métodos , Masculino , Persona de Mediana Edad , Polidocanol , Recurrencia , Reproducibilidad de los Resultados , Estudios Retrospectivos , Escleroterapia/métodos , Resultado del TratamientoRESUMEN
The role of innate immune response mediated by Toll-like receptors in HCV infection, is not yet well understood and there is a lack of data regarding liver tissue expression of these molecules in chronic hepatitis C (CHC). Our study is aimed to investigate ex vivo, liver expression of TLR2, TLR3 and TLR7, which are more involved in the immune-pathogenesis of CHC, and to explore possible correlations with features of disease. We obtained liver biopsies and collected peripheral blood mononuclear cells (PBMC) from 23 consecutive patients with CHC and from 6 patients of control, without liver disease, undergoing surgery for cholecystectomy. The levels of TLRs mRNA in the samples were determined using a real-time reverse transcription quantitative PCR (RT-qPCR). We found a significant high expression of TLR3 in the liver of CHC patients respect to controls (also higher than expression in the PBMC). Conversely no differences emerged in the TLR2 and TLR7 levels between cases and controls. Also we found a correlation of TLR2 and TLR7 levels with the grade of necro-inflammation in the liver. Furthermore TLR7 hepatic levels resulted related to a more advanced stage of liver fibrosis. Ours is the first study to provide data on tissue expression of TLRs during chronic hepatitis C and we believe that it could lead to a better understanding of the role of these molecules in the HCV-mediated liver damage.
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Hepatitis C Crónica/metabolismo , Hígado/metabolismo , Hígado/patología , Receptores Toll-Like/metabolismo , Estudios de Casos y Controles , Femenino , Hepatitis C Crónica/genética , Humanos , Leucocitos Mononucleares/metabolismo , Masculino , Persona de Mediana Edad , ARN Mensajero/genética , ARN Mensajero/metabolismo , Receptor Toll-Like 2/genética , Receptor Toll-Like 2/metabolismo , Receptor Toll-Like 3/genética , Receptor Toll-Like 3/metabolismo , Receptor Toll-Like 7/genética , Receptor Toll-Like 7/metabolismo , Receptores Toll-Like/genéticaRESUMEN
To investigate ANT1 and NF-κB expression in inclusion body myositis (IBM) muscle and to verify their possible roles in the pathogenesis of the disease, we collected muscle samples from five patients with IBM, polimyositis (PM) and controls. p65 form of NF-κB was analyzed using immunocytochemistry, Western blot and EMSA. Western blot of ANT1 was performed and confirmed by gene expression study. Mann-Whitney test was used for groups comparisons. NF-κB (p65) was found over-expressed both with western blot and EMSA, either in IBM or PM patients versus controls (p < 0.01). Expression of ANT1 were lower in IBM samples versus both PM and controls (p < 0.01). ANT1 reduction and NF-κB over-expression in IBM muscle could explain the lack of apoptosis in such disease. Normal ANT1 expression in PM could be related to the scarcity of mitochondrial abnormalities in the disease, but it could also suggest that these two conditions diverge in activating different anti-apoptotic pathways.
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Translocador 1 del Nucleótido Adenina/metabolismo , Músculo Esquelético/metabolismo , Miositis por Cuerpos de Inclusión/metabolismo , FN-kappa B/metabolismo , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Músculo Esquelético/patología , Miositis por Cuerpos de Inclusión/patología , Polimiositis/metabolismo , Polimiositis/patologíaRESUMEN
The island of Sicily has a long standing tradition in citrus growing. We evaluated the sustainability of orange and lemon orchards, under organic and conventional farming, using an energy, environmental and economic analysis of the whole production cycle by using a life cycle assessment approach. These orchard systems differ only in terms of a few of the inputs used and the duration of the various agricultural operations. The quantity of energy consumption in the production cycle was calculated by multiplying the quantity of inputs used by the energy conversion factors drawn from the literature. The production costs were calculated considering all internal costs, including equipment, materials, wages, and costs of working capital. The performance of the two systems (organic and conventional), was compared over a period of fifty years. The results, based on unit surface area (ha) production, prove the stronger sustainability of the organic over the conventional system, both in terms of energy consumption and environmental impact, especially for lemons. The sustainability of organic systems is mainly due to the use of environmentally friendly crop inputs (fertilizers, not use of synthetic products, etc.). In terms of production costs, the conventional management systems were more expensive, and both systems were heavily influenced by wages. In terms of kg of final product, the organic production system showed better environmental and energy performances.
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Agricultura/economía , Agricultura/métodos , Citrus sinensis , Citrus , Conservación de los Recursos Naturales , Costos y Análisis de Costo , Fuentes Generadoras de Energía , Ambiente , Agricultura Orgánica , SiciliaRESUMEN
AIM: To evaluate the safety and efficacy of the minimally invasive surgical approach (laparoscopic drainage) of liver abscesses in selected cases. CASE REPORT: Male, 58 years old, from a rural area, presented with epigastric abdominal pain, fever, weight loss, loss of appetite, a palpable mass in the epigastrium and neutrophilic leukocytosis. CT revealed a complex multiloculated liver abscess in segments 2-3. Systemic antibiotic therapy alone was ineffective; percutaneous drainage was excluded due to the characteristics of the lesion. RESULT: Given the complexity of the lesion, a laparoscopic approach was chosen involving complete drainage of the abscess, debridement and irrigation; the cavity was unroofed using electrocautery and samples were obtained for bacterial culture and drug testing. Two drains were left in the cavity for seven days. No complications were observed. DISCUSSION: In accordance with the scientific literature, after thorough imaging we performed laparoscopic drainage of a large, complex liver abscess as a safe, effective alternative to open surgery when antibiotic therapy alone failed and percutaneous drainage was uncertain. CONCLUSION: Not all liver abscesses can be treated with antibiotic therapy or percutaneous drainage. Laparoscopic drainage in association with systemic antibiotic therapy is a safe and effective minimally invasive approach that should be considered in selected patients.
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Drenaje/métodos , Laparoscopía , Absceso Hepático/cirugía , Antibacterianos , Humanos , Masculino , Persona de Mediana EdadRESUMEN
INTRODUCTION: The aim of this study was to compare the results of classic laparoscopic, three-port and SILS cholecystectomy. MATERIALS AND METHODS: We conducted a retrospective study of data collected between January 2010 and December 2012 pertaining to 159 selected patients with symptomatic gallstones. 57 underwent laparoscopic cholecystectomy, 51 three-port cholecystectomy and 48 SILS cholecystectomy. We then compared the groups with respect to mean operating time, intraoperative complications, postoperative pain, duration of hospitalization and final aesthetic result. RESULTS: The mean operating time was significantly higher in the SILS cholecystectomy group (93 minutes) than in the other two groups. There were no intraoperative complications. There were no significant differences in the duration of hospitalization among the three groups. Patients in the SILS cholecystectomy group reported significantly less pain 3, 6 and 12 hours after surgery. The aesthetic results at 1 and 6 months' follow-up were also decidedly better. CONCLUSIONS: On the basis of this study, SILS cholecystectomy is a feasible, safe procedure. In any case, it should be used in selected patients only and carried out by a dedicated team with strong experience in laparoscopy. The main advantages of this technique are a reduction in post-operative pain and improved aesthetic result, at the price, however, of its greater technical difficulty and longer operating times. Future studies are in any case necessary to evaluate any other benefits of this method.
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Colecistectomía Laparoscópica/métodos , Colelitiasis/cirugía , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Colecistectomía , Estudios de Factibilidad , Femenino , Estudios de Seguimiento , Humanos , Tiempo de Internación , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
AIM: The aim of the study was the evaluation of the autonomic cardiac function in professional soccer players by heart rate recovery (HRR) measurement after 1' or 2' of active recovery (HRR1 or HRR2, respectively) from an exercise stress test. METHODS: Ninety-two adult professional soccer players (aged 25.27 ± 4.06 years). The exercise test was performed using a cycle ergometer with a ramp protocol. The subjects began with a load of 25W that was increased by 3W every 6 seconds, followed by an active recovery phase. We assessed the heart rate at rest (HRr), the PR interval, the QT and QTc intervals, the QRS axis, the QRS duration, the maximal heart rate, and the heart rate and heart rate recovery after 1 or 2 minutes from suspension of the load. RESULTS: The HRR1 was significantly slower (20.53 SD 6.67) among goalkeepers in comparison with other roles (HRR1 30.7 SD 6.62; P<0.01). There were also significant differences among the HRR1 values of forwards (27.11 SD 4.04), midfielders (HRR1 31.31 SD 7.43), and defenders (HRR1 32.10 SD 9.55). Goalkeepers had a significantly higher heart rate at rest (HRr, 65.69 SD 10.90) than other players (HRr 57.24 SD 6.21; P<0.01). CONCLUSION: These data show better autonomic function in roles with alternate aerobic-anaerobic activity compared to other roles. The results agree with the data in other literature about the positive action of intense aerobic-anaerobic physical activity on cardiovascular autonomic system adjustment.
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Sistema Nervioso Autónomo/fisiología , Frecuencia Cardíaca/fisiología , Recuperación de la Función , Fútbol/fisiología , Adulto , Prueba de Esfuerzo , Femenino , Humanos , Masculino , Estudios Retrospectivos , Adulto JovenRESUMEN
BACKGROUND: Giant Condyloma Acuminatum (GCA) is a rare, slow growing, large cauliflower tumor of the penile foreskin and perianal region with benign histologic appearance but high propensity for local invasion and recurrences. GCA is associated with Human Papilloma Virus (HPV) types 6 and 11 and it also has considerable risk of neoplastic transformation into fully invasive squamous cell carcinoma into about 5 years. OBJECTIVE: Because of the rarity of perianal GCA, to date there is no general agreement on the best method for treatment. We wanted to know if surgical approach only was a good method to treat our case. CASE REPORT: A 28 years old man, HIV-negative, with a 4 years history of perianal GCA quickly growing underwent full tickness local excision at least 0,7 cm margin of normal tissue with skin grafting taken from the thighs. Fecal contamination was avoided by diet and loperamide per os. At two years follow-up no recurrence was detected. CONCLUSION: Surgical approach with full tickness excision and immediate skin-grafting and regular follow-up demonstrated effective to treat GCA and to minimize disease recurrence.
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Neoplasias del Ano/patología , Tumor de Buschke-Lowenstein/patología , Adulto , Neoplasias del Ano/cirugía , Tumor de Buschke-Lowenstein/cirugía , Progresión de la Enfermedad , Humanos , Masculino , Factores de TiempoRESUMEN
Although it is well established that all the aspects of male reproduction are hormonally regulated, the endocrine control of the ejaculatory reflex is still not completely clarified. Sex steroids, thyroid and pituitary hormones (oxytocin and prolactin) have been proposed to control the ejaculatory process at various levels; however, only a few reports are currently available. The aim of this study was to evaluate the contribution of testosterone, thyrotropin (TSH) and prolactin (PRL) in the pathogenesis of ejaculatory dysfunction in a large series of subjects consulting for sexual dysfunction. Among the 2652 patients studied, 674 (25.2%) and 194 (7.3%) reported premature and delayed ejaculation (PE and DE), respectively. Categorizing ejaculatory difficulties on an eight-point scale starting from severe PE and ending with anejaculation (0 = severe PE, 1 = moderate PE, 2 = mild PE, 3 = no difficulties, 4 = mild DE, 5 = moderate DE, 6 = severe DE and 7 = anejaculation), PRL as well as TSH levels progressively increased from patients with severe PE towards those with anejaculation. Conversely, the opposite was observed for testosterone levels. All of these associations were confirmed after adjustment for age (adjusted r = 0.050, 0.053 and -0.038 for PRL, TSH and testosterone, respectively; all p < 0.05). When all hormonal parameters were introduced in the same regression model, adjusting for age, ΣMHQ (an index of general psychopathology) and use of selective serotonin reuptake inhibitor antidepressants, they were independently associated with ejaculatory problems (adjusted r = 0.056, 0.047 and -0.059 for PRL, TSH and testosterone, respectively; all p < 0.05). This study indicates endocrine system is involved in the control of ejaculatory function and that PRL, TSH and testosterone play an independent role.
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Eyaculación/fisiología , Prolactina/sangre , Disfunciones Sexuales Fisiológicas/fisiopatología , Testosterona/sangre , Tirotropina/sangre , Adulto , Envejecimiento , Humanos , Masculino , Persona de Mediana Edad , Orgasmo , Disfunciones Sexuales Fisiológicas/etiología , Glándula Tiroides/fisiologíaRESUMEN
Muscle degeneration in Duchenne muscular dystrophy (DMD) is exacerbated by increased oxidative stress and the endogenous inflammatory response, with a key role played by nuclear factor kappa-B (NF-kappaB) and other related factors such as tumor necrosis factor (TNF)-alpha and interleukin (IL)-6. However the time course of expression of these molecules and the relation with the amount of necrosis and regeneration have never been investigated. The expression of NF-kappaB, the cytokines TNF-alpha and IL-6 and the antioxidant enzyme glutathione peroxidase (GPx) was studied in muscle samples from 14 patients with DMD aged between 2 and 9 years. Moreover a quantitative morphological evaluation was performed to evaluate necrotic and regenerative areas. The highest percentage of necrosis was revealed within 4 years of age, with a significant negative correlation with age (p < 0.003), which paralleled to a significant decrement of regenerating area (p < 0.0004). We reported the novel observation that the number of NF-kappaB positive fibers and the NF-kappaB DNA-binding activity, revealed by EMSA, are high at two years of life and significantly decline with age (p < 0.0005 and p < 0.0001). The expression of TNF-alpha, IL-6 and GPx was upregulated in DMD muscles compared to controls and significantly increased with age on real-time PCR analysis (p < 0.0002; p < 0.0005; p < 0.03 respectively) and ELISA (p < 0.002; p < 0.02; p < 0.0001 respectively). Since anti-inflammatory and anti-oxidant drugs are nowadays being translated to clinical studies in DMD, the reported insights on these therapeutic targets appear relevant. Further studies on the interactions among these pathways in different DMD phases and on the response of these cascades to treatments currently under investigation are needed to better elucidate their relevance as therapeutic targets.
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Músculo Esquelético/metabolismo , Distrofia Muscular de Duchenne/metabolismo , FN-kappa B/metabolismo , Envejecimiento/metabolismo , Envejecimiento/patología , Antioxidantes/metabolismo , Niño , Preescolar , Ensayo de Cambio de Movilidad Electroforética , Ensayo de Inmunoadsorción Enzimática , Glutatión Peroxidasa/metabolismo , Humanos , Inmunohistoquímica , Interleucina-6/metabolismo , Masculino , Músculo Esquelético/patología , Distrofia Muscular de Duchenne/patología , Necrosis , Regeneración , Factor de Necrosis Tumoral alfa/metabolismoRESUMEN
The autonomic nervous system (ANS) plays an important role in the human response to various internal and external stimuli, which can modify homeostasis, and exerts a tight control on essential functions such as circulation, respiration, thermoregulation and hormonal secretion. ANS dysfunction may complicate the perioperative course in the surgical patient undergoing anesthesia, increasing morbidity and mortality, and, therefore, it should be considered as an additional risk factor during pre-operative evaluation. Furthermore, ANS dysfunction may complicate the clinical course of critically ill patients admitted to intensive care units, in the case of trauma, sepsis, neurologic disorders and cardiovascular diseases, and its occurrence adversely affects the outcome. In the care of these patients, the assessment of autonomic function may provide useful information concerning pathophysiology, risk stratification, early prognosis prediction and treatment strategies. Given the role of ANS in the maintenance of systemic homeostasis, anesthesiologists and intensivists should recognize as critical the evaluation of ANS function. Measurement of heart rate variability (HRV) is an easily accessible window into autonomic activity. It is a low-cost, non-invasive and simple to perform method reflecting the balance of the ANS regulation of the heart rate and offers the opportunity to detect the presence of autonomic neuropathy complicating several illnesses. The present review provides anesthesiologists and intensivists with a comprehensive summary of the possible clinical implications of HRV measurements, suggesting that autonomic dysfunction testing could potentially represent a diagnostic and prognostic tool in the care of patients both in the perioperative setting as well as in the critical care arena.
Asunto(s)
Anestesia , Cuidados Críticos , Frecuencia Cardíaca/fisiología , Anciano , Sistema Nervioso Autónomo/fisiopatología , Humanos , Periodo Perioperatorio , PronósticoRESUMEN
BACKGROUND: Umbilical hernia is a common disease, which occurs in 20% of cirrhotic patients in the presence of persistent ascites. A rare but dangerous complication of this disease in end stage liver patient is a spontaneous rupture of umbilical hernia with ascitic fluid leaking. Up to date there is no general consensus on its most appropriate treatment. CASE REPORT: A 60 years-old male patient, with Child Pugh C and Meld score of 18 end stage liver disease, came to our observation for a spontaneous minimal rupture of his long lasting 5 cm umbilical hernia with ascitic fluid leaking. A medical therapy was undertaken aiming to manage the ascites and a temporary conservative therapy, with fibrin glue injection, was performed to solve the hernia ulceration, delaying the surgical repair after 20 days, when he underwent to a surgical repair with the positioning of a on lay mesh. At 12 month follow up we did not observe any recurrence. CONCLUSIONS: Spontaneous rupture of umbilical hernia is a rare but life threatening complication of umbilical hernia in cirrhotic patient with refractory ascites. Even if a general consensus on its management is lacking, a conservative therapy with glue injection, appears feasible and effective, with low risk and representing a bridge therapy to surgery, to treat the ascitic leak and allow the clinical optimization of the patient.