RESUMEN
Autoimmune and dysimmune inflammatory mechanisms on a genetically susceptible background are implicated in the etiology of Behçet's Disease (BD). Heat-shock protein-65 (HSP-65) derived from Streptococcus sanguinis was proposed as a triggering factor based on its homology with human HSP-60. However, none of the autoantigens identified so far in sera from BD share common epitopes with bacterial HSP-65 or has a high prevalence. Here, we report that sera from BD patients are immunoreactive against filamentous neuronal processes in the mouse brain, retina and scrotal skin in great majority of patients. By using matrix-assisted laser desorption/ionization-time of flight mass spectrometry (MALDI-TOF MS) and peptide mass fingerprinting, Western blotting and peptide blocking experiments, we have identified neurofilament medium (NF-M) as the probable antigen for the serologic response observed. Clustal Omega analyses detected significant structural homology between the human NF-M and bacterial HSP-65 corresponding to amino acids 111-126, 213-232 and 304-363 of mycobacterial HSP-65, which were previously identified to induce proliferation of lymphocytes obtained from BD patients. We also found that sera immunoreactive against NF-M cross-reacted with bacterial HSP-65. These findings suggest that NF-M may be involved in autoimmunity in BD due to its molecular mimicry with bacterial HSP-65.
Asunto(s)
Autoantígenos/inmunología , Proteínas Bacterianas/inmunología , Síndrome de Behçet/inmunología , Chaperonina 60/inmunología , Epítopos de Linfocito B/inmunología , Proteínas de Choque Térmico/inmunología , Proteínas de Neurofilamentos/inmunología , Neuronas/fisiología , Streptococcus sanguis/inmunología , Adulto , Animales , Anticuerpos/sangre , Autoantígenos/genética , Proteínas Bacterianas/genética , Encéfalo/patología , Células Cultivadas , Chaperonina 60/genética , Reacciones Cruzadas , Epítopos de Linfocito B/genética , Femenino , Predisposición Genética a la Enfermedad , Proteínas de Choque Térmico/genética , Humanos , Masculino , Ratones , Persona de Mediana Edad , Homología Estructural de Proteína , Adulto JovenRESUMEN
Unbalanced translocation involving both chromosomes 8q and 15q trisomies are extremely rare events. We present two different cases with unbalanced chromosomal rearrangements both derived from maternal balanced translocations. The first case is a 4 year-old boy with speech delay, dysmorphic facial features (inc. cleft lip/palate), behavioural disturbances and growth retardation, who had partial 8q trisomy and partial 21p monosomy resulting from a maternal t(8;21) reciprocal translocation. The other case is a 2 day-old boy with ventriculomegaly, dysmorphic facial features and heart defects (patent ductus arteriosus and atrial septal defect) who had partial 15q trisomy and partial 9p monosomy resulting from a maternal t(9;15) reciprocal translocation.
Asunto(s)
Anomalías Múltiples/genética , Translocación Genética/genética , Trisomía/genética , Preescolar , Cromosomas Humanos Par 15/genética , Cromosomas Humanos Par 8/genética , Humanos , Recién Nacido , MasculinoRESUMEN
BACKGROUND: There are various treatment options available for rosacea, depending on the subtype, but treatment is still generally unsatisfactory. Some reports have indicated beneficial effects of topical pimecrolimus. AIM: To compare the efficacy and safety of pimecrolimus 1% cream and metronidazole 1% cream in the treatment of patients with papulopustular rosacea (PR). METHODS: A group of 49 patients with PR was investigated in this single-centre, randomized, open-label study. Patients were randomly assigned treatment with either pimecrolimus 1% cream or metronidazole 1% cream for 12 weeks. Response was evaluated by the inflammatory lesion count, the severity of facial erythema and telangiectasia, Physician's Global Assessment (PGA), and safety and tolerability at baseline and at weeks 3, 6, 9 and 12. RESULTS: In total, 48 patients completed the study. Both treatments were very effective in the treatment of PR. There were no significant differences between the treatments in inflammatory lesion counts, overall erythema severity scores and PGA evaluated from baseline to week 12 (P > 0.05). Neither treatment produced any clinically relevant improvement in telangiectasia. CONCLUSION: Pimecrolimus cream is no more efficacious than metronidazole cream in the treatment of PR.
Asunto(s)
Antiinfecciosos/administración & dosificación , Fármacos Dermatológicos/administración & dosificación , Metronidazol/administración & dosificación , Rosácea/tratamiento farmacológico , Tacrolimus/análogos & derivados , Administración Tópica , Adulto , Análisis de Varianza , Emolientes/administración & dosificación , Femenino , Humanos , Masculino , Persona de Mediana Edad , Tacrolimus/administración & dosificación , Factores de Tiempo , Resultado del TratamientoRESUMEN
BACKGROUND: Acne vulgaris is one of the common dermatological diseases and its pathogenesis is multifactorial. In this study, we aimed to determine the effects of oxidative stress in acne vulgaris. MATERIALS AND METHODS: The study involved 32 patients with acne vulgaris in the patient group and 34 healthy adults in the control group. The parameters of oxidative stress such as catalase (CAT), superoxide dismutase (SOD), xanthine oxidase (XO), nitric oxide (NO) and malondialdehyde (MDA) in the venous blood of patients were measured spectrophotometrically. The values were compared with those of the control group. RESULTS: The serum levels of MDA and XO activity in the patients with acne vulgaris were significantly higher than those of the controls. A significantly lower SOD and CAT activity was found in the patient group than in the control group. Although the patient group had higher serum levels of NO than the control group, the difference was not statistically significant. CONCLUSION: These results suggest that oxidative damage may play a role in the pathogenesis of acne; therefore, significant alterations may occur in the antioxidant defence system.
Asunto(s)
Acné Vulgar/metabolismo , Estrés Oxidativo , Acné Vulgar/enzimología , Adolescente , Adulto , Catalasa/sangre , Femenino , Humanos , Masculino , Malondialdehído/metabolismo , Óxido Nítrico/sangre , Análisis Espectral , Superóxido Dismutasa/sangre , Adulto JovenRESUMEN
Intestinal and human milk microbiota studies during infancy have shown variations according to geographical location, delivery mode, gestational age, and mother-related factors during pregnancy. In this study, we performed metagenomic mycobiota analyses of 44 transient and mature human milk among five different groups: mothers of normal spontaneous delivery-term (NS-T), caesarean delivery-term (CS-T), premature (PT), small for gestational age (SGA), and large for gestational age (LGA) infants. Fungi were detected in 80 out of the 88 samples. Regarding the number of observed fungal species, the NS-T group was more homogeneous (less variable) comparing the other groups (P<0.05). In the transient human milk samples, the most abundant species were Saccharomyces cerevisiae (33.3%) and Aspergillus glaucus (27.4%). While A. glaucus (33.7%) was second most abundant species in mature milk, S. cerevisiae disappeared (P<0.01) and Penicillium rubens became the most abundant species (35.5%) (P<0.05). Among the NS-T group, the most abundant species was Malassezia globosa in both transient and mature milk. In contrast, S. cerevisiae was the most abundant species in transient human milk (45.0%) in the CS-T group, but it disappeared in mature milk (P<0.01). In transient milk, M. globosa was only represented 6.0-9.0% of taxa in the PT, SGA, and LGA groups (P<0.05). In transient and mature milk in the PT, SGA and LGA groups, the most abundant species were A. glaucus and P. rubens. In mature milk samples, P. rubens is more abundant in CS-T group, PT group and LGA group, than the NS-T groups (P<0.05 for all). Although fungi constitute only a very small part of the human milk microbiome, we observed some changes that the human milk mycobiota composition varies in caesarean delivery, premature, SGA and LGA groups, comparing the normal spontaneous delivery, as well as differences between transient and mature human milk.
Asunto(s)
Peso al Nacer , Parto Obstétrico/métodos , Edad Gestacional , Leche Humana/microbiología , Micobioma , Adulto , Femenino , Hongos/aislamiento & purificación , Humanos , Masculino , Madres , Aumento de Peso , Adulto JovenRESUMEN
OBJECTIVES: The aim of the present study was to identify the prevalence and non-nutritional correlates of childhood obesity in primary school children and adolescents living in a representative sample of an urban area in western Anatolia. METHODS: The study was designed as a cross-sectional, population-based study. A representative sample of primary school children in Aydin was randomly selected according to age, gender and socio-economic status. Body mass index (BMI) was calculated after weight and height measurement. Centres for Disease Control 2000 growth charts for children and adolescents were used to identify BMI percentiles. Weight and height percentiles were obtained from charts of growth curves for Turkish children. RESULTS: The age range of children was 6-16 years. A total of 924 children and 424 adolescents were screened for obesity. Overweight and obesity prevalence in primary school children living in Aydin was 12.2% and 3.7%, respectively. High socio-economic status was found to be associated with childhood obesity. There was no association between obesity and gender, adolescence, educational status of parents and occupation of father. CONCLUSION: In the present study, we focused on some of the non-nutritional correlates of obesity in a representative population of an urban area in a developing country. Obesity prevalence rate in Turkish children living in Aydin was higher in children from a higher socio-economic group in contrast to reports from many developed countries.
Asunto(s)
Obesidad/epidemiología , Adolescente , Antropometría , Índice de Masa Corporal , Niño , Estudios Transversales , Femenino , Humanos , Masculino , Obesidad/prevención & control , Padres , Prevalencia , Factores de Riesgo , Clase Social , Turquía/epidemiología , Salud UrbanaRESUMEN
Transglutaminase 2 (TG2) has been implicated in wound healing, cellular differentiation, apoptosis and cell survival. TG2 activity increases following acute and chronic liver injury; however, the role of TG2 in tumors, is controversial. TG2 is a retinoid-inducible enzyme. We investigated the effects of retinyl acetate (RA) on the activity and levels of TG2 during the initiation and promotion stages of liver cancer. p-Dimethylaminoazobenzene (p-DAB) was used as initiator and 2, 3, 7, 8-tetrachlorodibenzo-p-dioxin (TCDD) was used as promoter in our model of carcinogenesis. Rats were divided into four groups of 24: control, corn oil control, p-DAB + TCDD, and p-DAB + TCDD + RA. Six rats from each group were sacrificed at days 30, 60, 90 and 120. TG2 activity decreased in the p-DAB + TCDD treated group, but TG2 immunostaining scores did not change by days 90 and 120. Neither TG2 enzyme activity nor the immunostaining score of TG2 protein changed in the tissues of the p-DAB + TCDD + RA group by days 90 and 120. TG2 activity was not be ameliorated by RA during the initiation or promotion stages of carcinogen induced liver cancer.
Asunto(s)
Carcinógenos/farmacología , Proteínas de Unión al GTP/metabolismo , Hígado/efectos de los fármacos , Hígado/enzimología , Tamaño de los Órganos/efectos de los fármacos , Transglutaminasas/metabolismo , Vitamina A/análogos & derivados , Animales , Diterpenos , Riñón/efectos de los fármacos , Riñón/enzimología , Masculino , Dibenzodioxinas Policloradas/farmacología , Proteína Glutamina Gamma Glutamiltransferasa 2 , Ratas Sprague-Dawley , Ésteres de Retinilo , Vitamina A/farmacologíaAsunto(s)
Antivirales/efectos adversos , Hepatitis B Crónica/tratamiento farmacológico , Hepatitis D/tratamiento farmacológico , Interferón-alfa/efectos adversos , Polietilenglicoles/efectos adversos , Psoriasis/inducido químicamente , Terapia Ultravioleta/métodos , Adulto , Humanos , Interferón alfa-2 , Masculino , Psoriasis/radioterapia , Proteínas RecombinantesRESUMEN
AIMS: Intractable glaucoma is glaucoma resistant to medical therapy and conventional surgical procedures. In this study, a planned surgical technique is discussed for controlling the increased intraocular pressure in selected cases with intractable glaucoma. METHODS: Total pars plana vitrectomy with pars plana tube implantation was performed in 17 eyes of 17 cases with intractable glaucoma. Patients with neovascular glaucoma were not included in this study. The mean age of these patients (seven men, 10 women) was 44.6 (SD 22.1) years and mean follow up period was 30.3 (15.5) months (range 4-71). Drainage implants with a disc were used in 16 cases, whereas, a tube with scleral buckle (Schocket surgery) was preferred in one case. An intraocular pressure below or equal to 20 mm Hg without any adjunctive medication or with only one type of antiglaucomatous drop was considered as an adequate operative outcome. RESULTS: 16 out of 17 eyes maintained adequate pressure control. Only three out of these 16 eyes required prophylactic antiglaucomatous medications. One patient underwent reoperation for pressure control. The most severe complications observed postoperatively were intravitreal haemorrhage (one case), choroidal detachment (one case), implant failure (one case), total retinal detachment (two cases), and corneal endothelial decompensation (five cases). CONCLUSION: Pars plana placement of drainage tube following pars plana vitrectomy should be considered as an alternative method for controlling increased intraocular pressures in selected patients with intractable glaucoma.
Asunto(s)
Implantes de Drenaje de Glaucoma , Glaucoma/cirugía , Vitrectomía/métodos , Adolescente , Adulto , Anciano , Niño , Enfermedad Crónica , Cuerpo Ciliar , Femenino , Humanos , Queratoplastia Penetrante/métodos , Masculino , Persona de Mediana EdadRESUMEN
A technique is described in which a posterior chamber intraocular lens (IOL) is implanted in eyes with partial loss of posterior capsule or zonular support. The IOL's inferior haptic is placed over the residual capsule and the superior haptic is fixated to the ciliary sulcus with a polypropylene suture. In 17 eyes that had surgery using this technique, mean postoperative visual acuity was 20/25; complications included irregular pupil, iris capture, pupil block, hyphema, localized peripheral anterior synechia, IOL tilt, suture exposure, and cystoid macular edema.
Asunto(s)
Extracción de Catarata/métodos , Cápsula del Cristalino/cirugía , Lentes Intraoculares , Ligamentos/cirugía , Esclerótica/cirugía , Técnicas de Sutura , Adulto , Anciano , Anciano de 80 o más Años , Extracción de Catarata/efectos adversos , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Polipropilenos , Complicaciones Posoperatorias , Estudios Retrospectivos , Agudeza VisualRESUMEN
Leptin has recently been shown to be present in human milk and is produced by mammary epithelial cells. We studied leptin concentrations in human milk and its relationships with maternal and infant plasma leptin concentrations, adiposity, serum glucose, insulin, lipid and lipoprotein levels. We also compared the initial and terminal milk leptin concentrations to investigate whether leptin acts as a satiety factor. Venous blood samples were obtained from 18 healthy lactating women aged from 17-42 years and their 3-120 day-old infants. Breast milk samples were collected just before and immediately after suckling, when the infant had self-terminated sucking. Leptin mean values in breast milk were lower than in maternal plasma (p<0.001). Breast milk log leptin concentrations positively correlated with both maternal and infant plasma log leptin concentrations (p<0.001 and p=0.001, respectively) and negatively correlated with maternal serum total cholesterol and low-density lipoprotein cholesterol levels (p<0.001 and p<0.01, respectively), but did not correlate with maternal and infant adiposity, serum glucose and insulin levels, maternal serum HDL-C, triglyceride levels and infants' lipid and lipoprotein concentrations (p>0.05). Using stepwise multiple regression analysis, maternal plasma log leptin and serum HDL-C concentrations were related to breast milk log leptin concentration (R2=0.82; p<0.0001 and p<0.001, respectively). There was no significant difference between initial and terminal milk leptin levels (p>0.05). We concluded that maternal leptin may be transferred to the infant via milk and may exert biological effects; there may be factors other than adiposity affecting breast milk leptin levels, and that leptin might not contribute to the development of satiation at the end of suckling.
Asunto(s)
Tejido Adiposo , Glucemia/metabolismo , Insulina/sangre , Leptina/metabolismo , Lípidos/sangre , Lipoproteínas/sangre , Leche Humana/metabolismo , Adolescente , Adulto , Femenino , Humanos , Lactante , Recién Nacido , Leptina/sangre , EmbarazoRESUMEN
To investigate leptin and to which factors it is related during the perinatal period, we measured serum leptin levels of 46 mothers at delivery, umbilical cord blood and infants on the third day of life. Maternal leptin was higher than in cord (p < 0.001), and did not correlate with maternal age, body weight, body mass index, weight gain during pregnancy, serum glucose, cholesterol, triglycerides, CPE, cortisol or HbA1c levels, nor any biochemical values or anthropometric data of the newborns (p > 0.05). In cord blood, leptin was significantly higher than in 3 day-old infants (p < 0.05), and correlated only with maternal insulin and glucose (r = 0.5, p < 0.01 and r = 0.4, p < 0.05, respectively). In 3 day-old infants, leptin did not correlate with any clinical data (p > 0.05). Leptin was not different in the two sexes (p > 0.05). Serum leptin levels were not related to adiposity of the mother-infant pairs or neonatal growth, and were not different in the two sexes during the perinatal period.
Asunto(s)
Índice de Masa Corporal , Peso Corporal , Sangre Fetal/química , Hidrocortisona/sangre , Insulina/sangre , Leptina/análisis , Adolescente , Adulto , Glucemia/análisis , Colesterol/sangre , Femenino , Humanos , Recién Nacido , Masculino , Embarazo , Caracteres SexualesRESUMEN
OBJECTIVES: To investigate the impact of preterm premature rupture of membranes on neonatal outcome. METHODS: A retrospective study was conducted among singleton pregnancies with or without intact amniochorional membranes. The impact of maternal age, gestational age at birth, 1- and 5-min Apgar scores, birthweight, presence of meconium, use of tocolytics, corticosteroids and antibiotics, mode of delivery, umbilical artery pH, histologic presence of chorioamnionitis, and state of the membranes were analyzed in relation to neonatal outcome. Neonatal outcomes were categorized into: none, presence of respiratory distress syndrome, early neonatal sepsis, neonatal death, and days at neonatal intensive care unit. RESULTS: A total of 180 preterm deliveries with ruptured (n=80) and intact membranes (n=100) constituted the study group (group 1) and the control group (group 2), respectively. Compared with group 2, there were more cases in group 1 of maternal antibiotic use (P<0.001), short-term tocolysis (P=0.03), and histologic chorioamnionitis (P<0.001). Multiple logistic regression analysis showed that gestational age at delivery (P=0.009), 1-min Apgar score (P=0.013), and umbilical artery pH (P=0.05) were the independent factors affecting neonatal outcome. CONCLUSIONS: Neonatal outcome was mainly affected by prematurity rather than by preterm premature rupture of membranes.
Asunto(s)
Rotura Prematura de Membranas Fetales/complicaciones , Rotura Prematura de Membranas Fetales/terapia , Edad Gestacional , Trabajo de Parto Prematuro/complicaciones , Trabajo de Parto Prematuro/prevención & control , Adulto , Puntaje de Apgar , Estudios de Casos y Controles , Corioamnionitis , Parto Obstétrico , Femenino , Humanos , Mortalidad Infantil , Recién Nacido de Bajo Peso , Recién Nacido , Recien Nacido Prematuro , Unidades de Cuidado Intensivo Neonatal , Tiempo de Internación , Modelos Logísticos , Edad Materna , Meconio , Embarazo , Resultado del Embarazo , Síndrome de Dificultad Respiratoria del Recién Nacido/etiología , Estudios Retrospectivos , Factores de Riesgo , Sepsis/etiología , TocólisisRESUMEN
Renal functional impairment due to the damaging effect of hyperfiltration of the remnant kidney was evaluated in patients who had been uninephrectomized in childhood or had unilateral agenesis. Sixteen patients (8 male, 8 female) a mean of 7.1 years (1-26 years) postnephrectomy were evaluated. Blood pressure values, clearances of creatinine (Ccr) and phosphorus (Cp), urine osmolality, total protein excretion and NAG (N-acetyl-beta-d-glucosaminidase) excretion were determined. Ccr values were slightly but not significantly lower (90.390 +/- 11.223 ml/min) than those of control subjects (110.818 +/- 7.755 ml/min). Daily urinary protein excretion adjusted for body surface was significantly higher in the study group (p < 0.05). Urinary NAG excretion measured with a spectrophotometric method and described as the Cr ratio was significantly higher in the patients than the control subjects (p < 0.05). It was concluded that the damaging effects of hyperperfusion not only involve the glomerulus but also the proximal and distal tubulus.
Asunto(s)
Acetilglucosaminidasa/orina , Riñón/anomalías , Nefrectomía , Adolescente , Adulto , Niño , Preescolar , Creatina/metabolismo , Femenino , Estudios de Seguimiento , Humanos , Pruebas de Función Renal , Túbulos Renales/fisiopatología , Masculino , Nefrectomía/efectos adversos , Proteinuria/etiologíaRESUMEN
Polyarteritis Nodosa (PAN) is a rare disease in childhood. No single pattern of clinical presentation characterizes this disease, but abdominal pain, central or peripheral nervous system disease, arthritis, myalgia and skin lesions occur at some time during the course of the illness. In this case a 16-year-old boy who presented with abdominal pain, elevated sedimentation rate associated with hypertension, and a high level of renin, all of which were detected during his hospitalization, suggested the diagnosis of PAN, and renal angiography was performed. Characteristic renal aneurysms were visualized and the diagnosis was confirmed.
Asunto(s)
Hipertensión Renovascular/diagnóstico por imagen , Poliarteritis Nudosa/diagnóstico por imagen , Arteria Renal/diagnóstico por imagen , Adolescente , Aneurisma/diagnóstico por imagen , Aneurisma/etiología , Humanos , Hipertensión Renovascular/sangre , Hipertensión Renovascular/etiología , Masculino , Poliarteritis Nudosa/sangre , Poliarteritis Nudosa/complicaciones , Radiografía , Renina/sangre , Sensibilidad y EspecificidadRESUMEN
Hypercalciuria is a common problem causing symptoms such as abdominal pain, hematuria and enuresis, and leading to stone formation. It results from a renal tubular calcium "leak" or intestinal hyper-reabsorption of calcium. This study was performed to determine whether renal functional impairment was present in children with hypercalciuria. The study group comprised 298 children who were screened for hypercalciuria by means of urinary calcium/creatinine (UCa/UCr) ratio. The renal functions of 18 children (6.4%) detected as having hypercalciuria with Ca/Cr ratios of greater than 0.18 in their spot urines were evaluated. Results were compared with those of the healthy control group. The rate of hypercalciuria did not very significantly between the boys and girls (p > 0.05). The mean value of daily calcium excretion was 6.42 + 3.93 mg/kg/day in the children with hypercalciuria, which was significantly different from that of the control group (p < 0.01). When the values of creatinine, osmolar and free water clearances, fractional excretion of sodium and tubular reabsorption of phosphorus were compared between the patient and control groups, the difference was not significant (p > 0.05). Urinary N-acetyl-beta-D-glucosaminidase (NAG) excretion, which was described as the creatinine ratio, was significantly higher in the children with hypercalciuria. These findings suggest that in the presence of normal renal functional studies in children with hypercalciuria, tubular injury can be detected by NAG, which is a more sensitive marker of renal tubular injury.
Asunto(s)
Trastornos del Metabolismo del Calcio/epidemiología , Calcio/orina , Túbulos Renales/lesiones , Acetilglucosaminidasa/orina , Adolescente , Biomarcadores , Trastornos del Metabolismo del Calcio/orina , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Humanos , Pruebas de Función Renal , Masculino , Turquía/epidemiologíaRESUMEN
Meckel syndrome in twins is presented. Although several families have been reported as having this syndrome in more than one member, this is the first instance that twins having this disorder have been reported. We wish to emphasize the importance of genetic counselling in such a case in which prenatal diagnosis is possible.
Asunto(s)
Encefalocele/diagnóstico por imagen , Enfermedades Renales Poliquísticas/congénito , Gemelos Dicigóticos , Gemelos , Consanguinidad , Encefalocele/cirugía , Femenino , Humanos , Lactante , Masculino , Enfermedades Renales Poliquísticas/diagnóstico por imagen , Enfermedades Renales Poliquísticas/cirugía , Tomografía Computarizada por Rayos X , TurquíaRESUMEN
In systemic lupus erythematosus (SLE), the central nervous system (CNS) produces numerous and varying clinical disorders. A 14-year-old girl with the features of cerebral involvement in SLE is presented. The development of diabetes insipidus (DI), which responded to desmopressin, was an interesting finding in this case. Therapy consisting of high-dose methylprednisolone combined with cyclophosphamide was effective in improving the symptoms as well as the DI.