RESUMEN
The Vaccination Calendar for Life is an alliance of scientific and professional societies of public health physicians, paediatricians and general practitioners in Italy which provides a periodical update on the ideal, scientifically driven vaccination calendar throughout lifetime. Since 2012, the Lifetime Immunization Schedule has represented a benchmark for Regional and National Authorities to set up the updated list of vaccines provided actively and free of charge to infants, children, adolescents, adults and the elderly by inclusion in the Triennial National Vaccination Plan (TNVP), and in the Essential Levels of Care (LEA). The impact of the different editions of the Lifetime Immunization Schedule on the TNVP was deep, representing the inspiring source for the present vaccination policy. The 2019 edition called for more attention to pregnant women immunization; risk groups vaccination; uniform high coverage with the MMRV vaccine; extension of Meningococcal B vaccination also at adolescent age; use of quadrivalent conjugate meningococcal vaccine also at 1 year of life; progressive decrease of the age of free-of-charge offer of influenza to ≥ 60 and then to ≥ 50 year-old population; implementation of flu immunization ages 6 months-6 years; HPV vaccination also offered to 25-year old women at the time of the first screening (gender neutral immunization already offered); sequential PCV13-PPV23 pneumococcal vaccination in 65 year-old subjects; increased coverage with rotavirus vaccine in infants and zoster vaccine in the elderly.
Asunto(s)
Vacunas Meningococicas , Vacunación , Adolescente , Adulto , Anciano , Niño , Femenino , Política de Salud , Humanos , Esquemas de Inmunización , Lactante , Italia , Persona de Mediana Edad , EmbarazoRESUMEN
The Board of the Vaccination Calendar for Life (Bonanni et al., 2014, 2017) [1,2]), a coalition of four major scientific and professional societies of public health physicians, pediatricians and general practitioners in Italy, made an appeal to health authorities in order to sustain vaccination in COVID-19 times. The five pillars to maintain and increase vaccination coverage at all ages are described as follows: 1) Guarantee paediatric vaccination coverage to all newborns and paediatric boosters and adolescent immunizations, not interrupting active calls and scheduled sessions. 2) Re-organise the way paediatric and adolescent vaccinations are offered. 3) Set-up recovery programs for vaccinations not carried out after the start of the COVID-19 emergency. 4) Provide the preparation of tenders for the supply of flu vaccines with suitable quantities to increase coverage in all Regions and Autonomous Provinces with extreme urgency. 5) Prepare plans to increase coverage for influenza, pneumococcal, tetanus diphtheria and shingles. The Board of the Calendar for Life appeals to the National and Local Health Authorities for a strong and coordinated commitment in favor of the widest offer and acceptance of vaccinations, whose vital importance for collective health is now even more evident to all, in order to avoid that delays in the necessary initiatives should add damage from other epidemics to those suffered by our population due to the COVID-19 pandemic.
Asunto(s)
Programas de Inmunización/organización & administración , Pandemias , Cobertura de Vacunación , Adolescente , Adulto , Anciano , COVID-19 , Niño , Humanos , Recién Nacido , Italia/epidemiología , Pandemias/prevención & controlRESUMEN
OBJECTIVE: To report our clinical experience in the surgical treatment of feline thoraco-lumbar vertebral fracture-luxations using optimal safe implantation corridors as previously described in vitro. STUDY DESIGN: Retrospective clinical study. MATERIALS AND METHODS: Medical records and radiographs of cats with vertebral fracture-luxations stabilized by screws and polymethylmethacrylate (PMMA) using optimal safe implantation corridors between 2009 and 2011 were reviewed. For each patient the data included: signalment, cause of vertebral fracture-luxations, presence of concurrent injuries, pre- and postoperative neurological grade, surgical treatment, imaging findings, and clinical outcome with short-term (2 weeks) and long-term (12 months) follow-up. RESULTS: Eight cats with vertebral fracture-luxations involving the lumbar (L)(n = 5), the thoracic (T) spinal segments (n = 2), or the thoraco-lumbar junction (n = 1) were included in the study. Screws and PMMA were used bilaterally in five cats and unilaterally in three cats. No surgical intra-operative complications using the defined corridors were recorded. Implant failure followed by spontaneous recovery was recorded in one case. Two cats died in the postoperative period (≤ 4 days). The short-term and long-term clinical outcome was excellent in four out of eight cats and satisfactory in two out of eight cats. CONCLUSION AND CLINICAL RELEVANCE: This pilot study demonstrates the clinical applicability of optimal safe implantation corridors for stabilization of feline thoraco-lumbar vertebral fracture-luxations with screws and PMMA. This technique can be used with limited risks of iatrogenic injuries for stabilization of vertebral fracture-luxation localized between T11-L4.
Asunto(s)
Tornillos Óseos/veterinaria , Enfermedades de los Gatos/cirugía , Fracturas Óseas/veterinaria , Luxaciones Articulares/veterinaria , Vértebras Lumbares/cirugía , Vértebras Torácicas/cirugía , Animales , Cementos para Huesos/farmacología , Gatos , Femenino , Fracturas Óseas/cirugía , Luxaciones Articulares/cirugía , Masculino , Polimetil Metacrilato/farmacología , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
Members of the typical 2-Cys peroxiredoxin (Prx) subfamily represent an intriguing example of protein moonlighting behavior since this enzyme shifts function: indeed, upon chemical stimuli, such as oxidative stress, Prx undergoes a switch from peroxidase to molecular chaperone, associated to a change in quaternary structure from dimers/decamers to higher-molecular-weight (HMW) species. In order to detail the structural mechanism of this switch at molecular level, we have designed and expressed mutants of peroxiredoxin I from Schistosoma mansoni (SmPrxI) with constitutive HMW assembly and molecular chaperone activity. By a combination of X-ray crystallography, transmission electron microscopy and functional experiments, we defined the structural events responsible for the moonlighting behavior of 2-Cys Prx and we demonstrated that acidification is coupled to local structural variations localized at the active site and a change in oligomerization to HMW forms, similar to those induced by oxidative stress. Moreover, we suggest that the binding site of the unfolded polypeptide is at least in part contributed by the hydrophobic surface exposed by the unfolding of the active site. We also find an inverse correlation between the extent of ring stacking and molecular chaperone activity that is explained assuming that the binding occurs at the extremities of the nanotube, and the longer the nanotube is, the lesser the ratio binding sites/molecular mass is.
Asunto(s)
Peroxirredoxinas/química , Animales , Sitios de Unión , Catálisis , Dominio Catalítico , Cromatografía en Gel , Cristalografía por Rayos X , Cisteína/química , Cisteína/metabolismo , Enlace de Hidrógeno , Concentración de Iones de Hidrógeno , Cinética , Modelos Moleculares , Chaperonas Moleculares/química , Chaperonas Moleculares/metabolismo , Mutagénesis Sitio-Dirigida , Peroxidasas/química , Peroxidasas/metabolismo , Peroxirredoxinas/genética , Peroxirredoxinas/metabolismo , Peroxirredoxinas/ultraestructura , Unión Proteica , Conformación Proteica , Schistosoma mansoni/enzimologíaRESUMEN
In this paper, the effect of biodrying process on municipal solid waste (MSW) properties was studied. The results obtained indicated that after 14d, biodrying reduced the water content of waste, allowing the production of biodried waste with a net heating value (NHV) of 16,779±2,074kJ kg(-1) wet weight, i.e. 41% higher than that of untreated waste. The low moisture content of the biodried material reduced, also, the potential impacts of the waste, i.e. potential self-ignition and potential odors production. Low waste impacts suggest to landfill the biodried material obtaining energy via biogas production by waste re-moistening, i.e. bioreactor. Nevertheless, results of this work indicate that biodrying process because of the partial degradation of the organic fraction contained in the waste (losses of 290g kg(-1) VS), reduced of about 28% the total producible biogas.
Asunto(s)
Eliminación de Residuos/métodos , Desecación/métodos , Calor , OdorantesRESUMEN
Fms-like tyrosine-kinase 3 ligand (Flt-3L), is a powerful hematopoyetic growth factor, known to modulate the immune response against delivered antigens by acting either as an adjuvant or tolerogenic stimulus. In this study we evaluated the use of murine Flt-3 ligand plasmid (pFl) in combination with a DNA vaccine encoding rat-p185 oncoprotein extra cellular domain (pECD) in the prevention of mammary carcinogenesis in rat-neu HER-2 mutated (neuT) transgenic mice. We demonstrate that intramuscular (i.m.) co-immunization of pFl inhibits the production of anti-HER-2 antibody elicited by pECD vaccine, resulting in the development of spontaneous carcinomas in all co-immunized mice. The inhibitory effect on antibody production by mFlt3 gene appeared to be: dose-dependent, linked to the injection site and timing, and transient in nature. Additionally, we show that co-administration of pFI and pECD plasmids was unable to trigger cytotoxic T-cell immune response in neuT mice. On the other hand, we found that the combination of pFl with pECD had no impact on the ability of pECD to reject HER-2+ transplantable tumors in parental mice. In summary our results demonstrate that, depending on tumor model, co-administration of pFl gene can produce untoward effects to immune response, and thus its application as a vaccine adjuvant should be carefully evaluated.
Asunto(s)
Vacunas contra el Cáncer/inmunología , Neoplasias Mamarias Experimentales/prevención & control , Proteínas de la Membrana/inmunología , Receptor ErbB-2/inmunología , Vacunas de ADN/inmunología , Animales , Anticuerpos Antineoplásicos/sangre , Vacunas contra el Cáncer/genética , Línea Celular Tumoral , Femenino , Neoplasias Mamarias Experimentales/inmunología , Proteínas de la Membrana/genética , Ratones , Ratones Transgénicos , Plásmidos/inmunología , Ratas , Linfocitos T/inmunologíaRESUMEN
A transverse patellar fracture in a six-month-old cat was successfully treated by figure-of-eight dorsal wiring of the patella. A longitudinal patellar fracture with luxation of a large medial fragment in a 2.5-year-old cat was treated by lateral marginal patellectomy with a positive outcome. While adding material to the few veterinary reports in that species, in this brief communication, the authors discuss the aetiology, diagnosis, and the treatment of the presented cases with regards to findings in previously published feline cases.
Asunto(s)
Gatos/lesiones , Fijación Interna de Fracturas/veterinaria , Curación de Fractura/fisiología , Rótula/lesiones , Rótula/cirugía , Animales , Gatos/cirugía , Femenino , Fijación Interna de Fracturas/métodos , Rótula/diagnóstico por imagen , Radiografía , Resultado del TratamientoRESUMEN
Twenty-four simple or comminuted supracondylar and diaphyseal femoral fractures in cats, which had been treated by retrograde insertion of a new 3.5 mm titanium interlocking nail (IN) from the intercondylar notch, were evaluated between June 2000 and October 2004 at the Ecole Nationale Vétérinaire d'Alfort. Patient data (species, breed, weight, and age), fracture characteristics, details of the surgery, post-operative complications and radiographic follow-up were recorded. The mean body weight was 3.75 kg and the cats ranged in age between four and 66 months (mean 29 months). The IN had a diameter of 3.5 mm and a length of 100, 109 or 119 mm, and were all fixed in a static position (two screws in seven cats, three screws in 10 cats and four screws in seven cats). Cerclage wires were used in seven cats and an autogenous bone graft was used in two cats. Screw or nail breakage were not recorded. Nineteen fractures healed without any complications, three cats died during the post-operative period from unknown causes, and two cats showed delayed bone healing. Twenty cats were considered to have an excellent limb function at one month. One cat with a sciatic injury was non-weight bearing for several months. Radiographic signs of degenerative joint disease of the stifle joint were not observed except in the cat with the sciatic nerve injury. The results of this study suggest that this new 3.5 mm titanium IN can be introduced from the intercondylar notch and be used in static fixation mode to stabilize supracondylar and diaphyseal femoral fractures in cats.
Asunto(s)
Clavos Ortopédicos/veterinaria , Gatos/cirugía , Fracturas del Fémur/veterinaria , Animales , Gatos/lesiones , Diáfisis/lesiones , Fracturas del Fémur/diagnóstico por imagen , Fracturas del Fémur/epidemiología , Fracturas del Fémur/cirugía , Irlanda/epidemiología , Complicaciones Posoperatorias/veterinaria , Radiografía , Registros/veterinaria , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
A five-year-old, female, spayed beagle with a history of unilateral epiphora of several months' duration as a result of inadequacy of the lacrimal drainage system was treated successfully with a new surgical method of parotid duct transposition. Data from complete preoperative ophthalmological examination, surgical technique, postoperative treatment, contrast radiography and histological examination were recorded. Absence of complications and complete patency of the stoma at 30 days after surgery confirmed the validity of this new technique. The use of an anatomic duct may be advantageous compared with the current techniques of conjunctivorhinostomy, conjuntivobuccostomy and conjunctival maxillary sinusostomy for the treatment of epiphora in the dogs caused by inadequacy of the lacrimal drainage system.
Asunto(s)
Enfermedades de los Perros/cirugía , Enfermedades del Aparato Lagrimal/veterinaria , Conducto Nasolagrimal/cirugía , Animales , Perros , Femenino , Enfermedades del Aparato Lagrimal/cirugía , Cuidados Posoperatorios/veterinaria , Resultado del TratamientoRESUMEN
The authors describe the design and the general, ultrasonographic, neuropsychological methodology of an observational epidemiological population survey, named REMEMBER (Registry Evaluation Memory in Buttrio e Remanzacco) conducted in the northeast of Italy in a randomized stratified sample of 1,026 subjects (554 F and 472 M) aged 55-98 years. The study was planned as cross-sectional and longitudinal survey of cognitive impairment, cardiovascular risk factors, carotid atherosclerosis in a midlife and older Italian population sample. The objectives of the first phase are to assess the prevalence of the different types of dementia, the cognitive impairment non-dementia, the cardiovascular risk factors, the carotid intima-media thickness and arterial distensibility, and of depression. The conclusions of this study will make it possible to organize preventive and interventional strategies for these epidemic conditions.
Asunto(s)
Enfermedad de Alzheimer/epidemiología , Enfermedades de las Arterias Carótidas/epidemiología , Trastornos del Conocimiento/epidemiología , Anciano , Anciano de 80 o más Años , Enfermedades de las Arterias Carótidas/diagnóstico por imagen , Femenino , Humanos , Incidencia , Italia/epidemiología , Masculino , Tamizaje Masivo/métodos , Persona de Mediana Edad , Prevalencia , Factores de Riesgo , Encuestas y Cuestionarios , UltrasonografíaRESUMEN
An 11-year-old, female neutered Labrador retriever was presented with a micro-invasive differentiated papillar adenocarcinoma at the colorectal junction. A colorectal end-to-end anastomosis stapler device was used to perform resection and anastomosis using a transanal technique. A rectovaginal fistula was diagnosed two days later. An exploratory laparotomy was conducted and the fistula was identified and closed. Early dehiscence of the colon was also suspected and another colorectal anastomosis was performed using a manual technique. Comparison to a conventional manual technique of intestinal surgery showed that the use of an automatic staple device was quicker and easier. To the authors' knowledge, this is the first report of a rectovaginal fistula occurring after end-to-end anastomosis stapler colorectal resection-anastomosis in the dog. To minimise the risk of this potential complication associated with the limited surgical visibility, adequate tissue retraction and inspection of the anastomosis site are essential.
Asunto(s)
Anastomosis Quirúrgica/veterinaria , Colectomía/veterinaria , Enfermedades de los Perros/etiología , Fístula Rectovaginal/veterinaria , Técnicas de Sutura/veterinaria , Adenocarcinoma/cirugía , Adenocarcinoma/veterinaria , Anastomosis Quirúrgica/efectos adversos , Animales , Colectomía/efectos adversos , Neoplasias Colorrectales/cirugía , Neoplasias Colorrectales/veterinaria , Perros , Femenino , Fístula Rectovaginal/etiología , Técnicas de Sutura/efectos adversos , Suturas/efectos adversos , Suturas/veterinariaRESUMEN
In this study, a series of tests exploring long-term verbal memory (the Short Story Test), attention (a modified version of Attentional Matrices and the Trail Making Test) and frontal functions (a modified version of the Frontal Assessment Battery) have been standardised on an Italian population of 283 children aged 5-14. Raw scores for each test have been adjusted for a series of variables (child's age, years of parents' education, handedness, gender) and transformed in equivalent scores enabling direct comparison across measures. This study was promoted by LICE (the Italian League Against Epilepsy) in order to provide Italian instruments standardised on the developmental age population and to study some of the most frequently impaired cognitive functions in epilepsy.
Asunto(s)
Atención , Trastornos del Conocimiento/diagnóstico , Epilepsia/complicaciones , Lóbulo Frontal/fisiología , Memoria , Pruebas Neuropsicológicas , Adolescente , Desarrollo del Adolescente , Niño , Desarrollo Infantil , Preescolar , Trastornos del Conocimiento/etiología , Femenino , Humanos , Italia , Masculino , Tamizaje Masivo/métodos , Tamizaje Masivo/normas , Pruebas Neuropsicológicas/normas , Reproducibilidad de los ResultadosRESUMEN
Using 4 biometric sensors, including GSR (Galvanic Skin Response), BVP (Blood Volume Pulse), EKG (Electro Cardio Grapy) and EEG (Electro Encephalon Grapy), this paper proposes to attempt to correlate the presentation of relaxing, engaging or stressful content to the subjective measures provided by participants in experiments. Once the participant interacts with content from one of the 3 conditions, they may or may not be selectively relaxed, engaged or stressed, and their scores on a psychological self-questionnaire (STAI: State-Trait Anxiety Inventory) should show that. From correlating the subjective ratings with the experimental conditions, is proposed to allow to develop algorithms that can be used to classify learners' affective state during synchronous or asynchronous coursework. It is proposed that the algorithm could be used synchronously for the teacher to get student feedback in real time.
RESUMEN
Endometriosis is one of the most frequent diseases in gynecology. It is histologically defined as a non-malignant pathology in which endometrial-like tissue is found outside the uterus. The pathogenesis and mechanisms involved in the development of endometriosis-associated pain symptoms are still under investigation. A local peritoneal inflammation seems to play an important role in the origin of these symptoms. Selectins belong to a group of cell adhesion molecules that mediate the localization of circulating leukocytes on the endothelium at the sites of inflammation. The aim of this study was to investigate the expression of E- and P-selectins in endometriotic tissues and the corresponding endometria. Thirty endometriotic samples, 13 corresponding endometria and six endometria of patients without endometriosis were analyzed using an immunohistochemical technique. Just two endometriotic tissues expressed E-selectin, while five samples were positive for P-selectin. The selectin expression of the corresponding endometria was also very weak. No correlations between the revised American Fertility Society (rAFS) score or the hormonal situation of the patients at the time of biopsy and the selectin expression could be found. In conclusion, the selectin expression in endometriotic glands does not play an important role in the initiation of inflammatory processes caused by endometriosis. This inflammation must be considered as a secondary reaction after the implantation of the endometriotic glands, so that endometriotic tissues are not able to induce, by the expression of selectins, a direct inflammation.
Asunto(s)
Selectina E/análisis , Endometriosis/metabolismo , Endometrio/química , Selectina-P/análisis , Biopsia , Endometriosis/patología , Estradiol/sangre , Femenino , Humanos , Inmunohistoquímica , Progesterona/sangreRESUMEN
Endometriosis is defined as endometriotic tissues growing outside the uterine cavity. The cell biological processes responsible for the pathogenesis of this disease are not well understood. In order to detect differences in proliferative activity between endometria and endometriotic lesions, Ki67 staining was analysed. In addition, expression of epidermal growth factor (EGF) and its receptor was examined using immunohistochemistry. For dedifferentiation processes pointing to invasive properties of the uterine epithelium, the presence of the adhesion complex E-cadherin with the associated alpha- and beta-catenin was investigated. Specimens of endometrium in the proliferative phase of 36 patients without, and 79 patients with, endometriosis together with endometriotic lesions were studied. The study revealed a significantly reduced proliferation activity in uterine epithelium within the ectopic lesions but no differences between eutopic endometria of non-affected and affected patients. Furthermore, a lower expression of both EGF and its receptor in the epithelial cells of the ectopic glands was observed. The adhesion complex E-cadherin, together with alpha-, and beta-catenin, was slightly reduced in uterine epithelial cells of women with endometriosis and less expressed in endometriotic lesions. The results indicate that epithelial cells of endometriotic lesions are not hyperproliferative, but do appear to dedifferentiate, displaying an invasive character.
Asunto(s)
Endometriosis/patología , Adulto , Adhesión Celular/fisiología , División Celular/fisiología , Endometriosis/fisiopatología , Factor de Crecimiento Epidérmico/fisiología , Receptores ErbB/fisiología , Femenino , Humanos , Inmunohistoquímica , Antígeno Ki-67/fisiologíaRESUMEN
OBJECTIVE: To investigate whether there are forms of early-onset autosomal-dominant type 2 diabetes that are distinct from typical maturity-onset diabetes of the young (MODY) and to characterize their phenotypic characteristics. RESEARCH DESIGN AND METHODS: The study included 220 affected subjects from 29 families in which early-onset type 2 diabetes occurred in multiple generations and was not linked to known MODY genes (MODY gene-negative families). All individuals underwent an oral glucose tolerance test and other clinical measurements aimed at investigating the underlying metabolic defect and the presence of diabetic complications. For comparison, 79 affected carriers of MODY3 (hepatocyte nuclear factor [HNF]-1 alpha) mutations were similarly examined. RESULTS: Subjects from MODY gene-negative pedigrees were diagnosed with diabetes at an older age (36 +/- 17 vs. 21 +/- 10 years, P = 0.0001) and were more frequently obese (52 vs. 18%, P = 0.0001) than MODY3 individuals. MODY gene-negative patients who were insulin treated required more exogenous insulin than did MODY3 subjects (0.7 +/- 0.4 vs. 0.45 +/- 0.2 U.kg-1.day-1, P = 0.04), despite similar C-peptide levels. Among subjects not treated with insulin, MODY gene-negative subjects had significantly higher serum insulin levels, both fasting (16.5 +/- 15 vs. 6.5 +/- 5 microU/ml, P = 0.027) and 2 h after a glucose load (53 +/- 44 vs. 11 +/- 10, P = 0.002). They also had higher serum triglycerides (P = 0.02), higher cholesterol levels (P = 0.02), more hypertension (P = 0.0001), and more nephropathy (P = 0.001). Differences persisted when families were matched for age at diagnosis. CONCLUSIONS: Our findings indicate the existence of forms of early-onset autosomal-dominant type 2 diabetes that are distinct from MODY and are frequently characterized by insulin resistance, similar to later-onset type 2 diabetes. Because of the Mendelian pattern of inheritance, the goal of identifying the genes involved in these forms of diabetes appears to be particularly feasible.
Asunto(s)
Diabetes Mellitus Tipo 2/genética , Proteínas Nucleares , Factores de Transcripción/genética , Adulto , Edad de Inicio , Glucemia/metabolismo , Peso Corporal , Colesterol/sangre , Proteínas de Unión al ADN/genética , Diabetes Mellitus/sangre , Diabetes Mellitus/genética , Diabetes Mellitus/fisiopatología , Diabetes Mellitus Tipo 1/sangre , Diabetes Mellitus Tipo 1/genética , Diabetes Mellitus Tipo 1/fisiopatología , Diabetes Mellitus Tipo 2/sangre , Diabetes Mellitus Tipo 2/fisiopatología , Nefropatías Diabéticas/genética , Familia , Femenino , Genes Dominantes , Intolerancia a la Glucosa/genética , Factor Nuclear 1 del Hepatocito , Factor Nuclear 1-alfa del Hepatocito , Factor Nuclear 1-beta del Hepatocito , Humanos , Insulina/sangre , Masculino , Persona de Mediana Edad , Obesidad , Fenotipo , Triglicéridos/sangreRESUMEN
We used liposomal amphotericin B as first-choice treatment of visceral leishmaniasis in 106 immunocompetent children who acquired the infection in a temperate region of southern Europe (Italy) where Leishmania infantum visceral leishmaniasis is endemic. The aim of the study was to identify the minimum total dose of liposomal amphotericin B needed to cure the infection in children and reduce the period of hospitalization. We conclude that the optimal regimen in immunocompetent children with L. infantum visceral leishmaniasis to be a total dose of 18 mg/kg of liposomal amphotericin B (3 mg/kg per day for 5 days, followed by 3 mg/kg administered as an outpatient regimen on day 10).
Asunto(s)
Anfotericina B/administración & dosificación , Antiprotozoarios/administración & dosificación , Leishmaniasis Visceral/tratamiento farmacológico , Adolescente , Atención Ambulatoria , Animales , Médula Ósea/parasitología , Niño , Preescolar , Esquema de Medicación , Portadores de Fármacos , Electroforesis , Enfermedades Endémicas , Femenino , Técnica del Anticuerpo Fluorescente Indirecta , Estudios de Seguimiento , Hospitalización , Humanos , Inmunocompetencia , Lactante , Isoenzimas/análisis , Italia , Leishmania infantum/efectos de los fármacos , Leishmania infantum/enzimología , Tiempo de Internación , Liposomas , MasculinoRESUMEN
Maturity-onset diabetes of the young 3 (MODY3) is a type of NIDDM caused by mutations in the transcription factor hepatocyte nuclear factor-1alpha (HNF-1alpha) located on chromosome 12q. We have identified four novel HNF-1alpha missense mutations in MODY3 families. In four additional and unrelated families, we observed an identical insertion mutation that had occurred in a polycytidine tract in exon 4. Among those families, one exhibited a de novo mutation at this location. We propose that instability of this sequence represents a general mutational mechanism in MODY3. We observed no HNF-1alpha mutations among 86 unrelated late-onset diabetic patients with relative insulin deficiency. Hence mutations in this gene appear to be most strongly associated with early-onset diabetes.
Asunto(s)
Cromosomas Humanos Par 12/genética , Proteínas de Unión al ADN , Diabetes Mellitus Tipo 2/genética , Mutación/genética , Proteínas Nucleares/genética , Factores de Transcripción/genética , Análisis Mutacional de ADN , Cartilla de ADN/química , Familia , Ligamiento Genético , Haplotipos , Factor Nuclear 1 del Hepatocito , Factor Nuclear 1-alfa del Hepatocito , Factor Nuclear 1-beta del Hepatocito , Humanos , Linaje , Reacción en Cadena de la Polimerasa , Polimorfismo Conformacional Retorcido-SimpleRESUMEN
A 10.1-year-old boy showed no permanent teeth, with the exception of the lower central incisors. An x-ray examination revealed that eruption of the permanent dentition was obstructed by 1 deciduous supernumerary and 22 permanent supernumeraries ectopically. Treatment consisted of the following steps: (1) extracting all deciduous and supernumerary teeth; (2) waiting for the roots of the permanent teeth to develop and fitting two temporary partial prostheses; (3) assisting eruption of the permanent teeth by removing the bone that covers the remaining teeth and applying crowns to stimulate the eruption; and (4) bringing the permanent teeth into occlusion with orthodontic treatment. The problem of limiting treatment time was made more difficult by the amount of repositioning needed to bring the teeth into occlusion and by delayed root formation. Therefore the orthodontist decided to use extreme caution in applying forces; as a result, treatment time was lengthened. Success was due to good teamwork between the surgeon with an orthodontic background and the orthodontist, who was familiar with surgical procedures.
Asunto(s)
Ortodoncia Correctiva , Diente Supernumerario/terapia , Niño , Dentadura Parcial Provisoria , Estudios de Seguimiento , Humanos , Masculino , Odontogénesis , Planificación de Atención al Paciente , Factores de Tiempo , Erupción Dental , Erupción Ectópica de Dientes/cirugía , Erupción Ectópica de Dientes/terapia , Extracción Dental , Técnicas de Movimiento Dental , Raíz del Diente/crecimiento & desarrollo , Diente Primario/anomalías , Diente Primario/cirugía , Diente Supernumerario/cirugía , Diente no Erupcionado/cirugía , Diente no Erupcionado/terapiaRESUMEN
We evaluated liposomal amphotericin B (AmBisome; Vestar, San Dimas, CA) administered to 88 immunocompetent patients (56 children) with visceral leishmaniasis (VL) caused by Leishmania infantum. Thirteen patients received 4 mg/kg on days 1-5 and 10 (total dose, 24 mg/kg), and all were cured; 42 received 3 mg/kg on days 1-5 and 10 (18 mg/kg), and 41 were cured; 32 received 3 mg/kg on days 1-4 and 10 (15 mg/kg), and 29 were cured (amastigotes were not cleared from 1 child, and 2 relapsed). One adult was cured with a total dose of 12mg/kg. The four children who were not cured received 3 mg/kg for 10 days; none had further relapses. There were no significant adverse events. For VL due to L. infantum, we recommended a total dose of AmBisome of > or = 20 mg/kg, given in > or = 5 doses of 3-4 mg/kg over > or = 10 days.