RESUMEN
BACKGROUND: HPV is a major cancer-causing factor in both sexes in the cervix, vulva, vagina, anus, penis, oropharynx as well as the causal factor in other diseases such as genital warts and recurrent respiratory papillomatis. In the context of the arrival of a nonavalent HPV vaccine (6/11/16/18/31/33/45/52/58), this analysis aims to estimate the public health impact and the incremental cost-effectiveness of a universal (girls and boys) vaccination program with a nonavalent HPV vaccine as compared to the current universal vaccination program with a quadrivalent HPV vaccine (6/11/16/18), in Austria. METHOD: A dynamic transmission model including a wide range of health and cost outcomes related to cervical, anal, vulvar, vaginal diseases and genital warts was calibrated to Austrian epidemiological data. The clinical impact due to the 5 new types was included for cervical and anal diseases outcomes only. In the base case, a two-dose schedule, lifelong vaccine type-specific protection and a vaccination coverage rate of 60% and 40% for girls and boys respectively for the 9-year old cohorts were assumed. A cost-effectiveness threshold of 30,000/QALY-gained was considered. RESULTS: Universal vaccination with the nonavalent vaccine was shown to reduce the incidence of HPV16/18/31/33/45/52/58 -related cervical cancer by 92%, the related CIN2/3 cases by 96% and anal cancer by 83% and 76% respectively in females and males after 100 years, relative to 75%, 76%, 80% and 74% with the quadrivalent vaccine, respectively. Furthermore, the nonavalent vaccine was projected to prevent an additional 14,893 cases of CIN2/3 and 2544 cases of cervical cancer, over 100 years. Depending on the vaccine price, the strategy was shown to be from cost-saving to cost-effective. CONCLUSION: The present evaluation showed that vaccinating 60% of girls and 40% of boys aged 9 in Austria with a 9-valent vaccine will substantially reduce the incidence of cervical cancer, CIN and anal cancer compared to the existing strategy. The vaccination strategies performed with the 9-valent vaccine in the current study were all found to be cost-effective compared to the current quadrivalent vaccination strategy by considering a cost-effectiveness threshold of 30,000/QALY gained.
Asunto(s)
Infecciones por Papillomavirus/prevención & control , Vacunas contra Papillomavirus/inmunología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Neoplasias del Ano/economía , Neoplasias del Ano/prevención & control , Austria/epidemiología , Análisis Costo-Beneficio , Femenino , Papillomavirus Humano 16/inmunología , Papillomavirus Humano 18/inmunología , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Modelos Teóricos , Infecciones por Papillomavirus/economía , Infecciones por Papillomavirus/epidemiología , Neoplasias del Pene/economía , Neoplasias del Pene/prevención & control , Salud Pública , Años de Vida Ajustados por Calidad de Vida , Neoplasias del Cuello Uterino/diagnóstico , Neoplasias del Cuello Uterino/epidemiología , Vacunación , Adulto JovenRESUMEN
Treacher Collins syndrome (TCS) is a rare craniofacial disorder characterized by facial anomalies and ear defects. TCS is caused by mutations in the TCOF1 gene and follows autosomal dominant inheritance. Recently, mutations in the POLR1D and POLR1C genes have also been identified to cause TCS. However, in a subset of patients no causative mutation could be found yet. Inter- and intrafamilial phenotypic variability is high as is the variety of mainly family-specific mutations identified throughout TCOF1. No obvious correlation between pheno- and genotype could be observed. The majority of described point mutations, small insertions and deletions comprising only a few nucleotides within TCOF1 lead to a premature termination codon. We investigated a cohort of 112 patients with a tentative clinical diagnosis of TCS by multiplex ligation-dependent probe amplification (MLPA) to search for larger deletions not detectable with other methods used. All patients were selected after negative screening for mutations in TCOF1, POLR1D and POLR1C. In 1 patient with an unequivocal clinical diagnosis of TCS, we identified a 3.367 kb deletion. This deletion abolishes exon 3 and is the first described single exon deletion within TCOF1. On RNA level we observed loss of this exon which supposedly leads to haploinsufficiency of TREACLE, the nucleolar phosphoprotein encoded by TCOF1.
Asunto(s)
Enfermedades en Gemelos , Efrina-B1/genética , Nariz/anomalías , Cráneo/anomalías , Codón sin Sentido , Exones , Femenino , Humanos , Datos de Secuencia Molecular , SíndromeRESUMEN
About 12% of children of myasthenic mothers exhibit a transitory myasthenic syndrome. Usually, these symptoms have disappeared after a few weeks. Treatment with anticholinesterase drugs is successful. The purpose of this paper is to present an infant born to a myasthenic mother, with distal arthrogryposis, severe hypotonia and respiratory distress, unresponsive to administration of pyridostigmine bromide. Eleven other cases of neonatal myasthenia with arthrogryposis are known. Five of them were stillborn or died within the first day of life. The surviving children had profound weakness and needed ventilatory assistance for a long period. The severity of these few cases contrasts with the numerous reports of benign and transitory signs of neonatal myasthenia. Passively transferred maternal acetylcholine receptor antibodies may produce illness in the newborn.
Asunto(s)
Artrogriposis/fisiopatología , Miastenia Gravis/genética , Complicaciones del Embarazo , Adulto , Artrogriposis/diagnóstico por imagen , Artrogriposis/terapia , Autoanticuerpos/sangre , Femenino , Humanos , Recién Nacido , Miastenia Gravis/sangre , Miastenia Gravis/inmunología , Embarazo , Bromuro de Piridostigmina/uso terapéutico , Radiografía , Receptores Colinérgicos/inmunología , Síndrome de Dificultad Respiratoria del Recién Nacido/complicacionesRESUMEN
Case presentation of an intra-uterine diagnosed third ventricle colloid cyst in a male with XYY-Syndrom. The inner cellular cover of cyst was composed by flat or cuboidal to columnar epithelium, which beared cilia in some areas. Other cells of the inner cover showed protrusions of cytoplasm, which extended into the cyst cavity. The cyst wall showed loosely arranged fibrous connective tissue, some Plasmocytes, and a few cells with granulated plasma. The histogenesis of this cyst was suggested immunohistologically from primitive neuroepithelial structures. According to sonographic findings an intra-uterine diagnosed intracerebral cyst should be a cause to search other malformations.
Asunto(s)
Encefalopatías/patología , Ventrículos Cerebrales/patología , Quistes/patología , Cariotipo XYY/patología , Aborto Inducido , Adulto , Amniocentesis , Encefalopatías/complicaciones , Encefalopatías/embriología , Ventrículos Cerebrales/embriología , Tejido Conectivo/patología , Quistes/complicaciones , Quistes/embriología , Femenino , Humanos , Masculino , Embarazo , Cariotipo XYY/embriologíaRESUMEN
The Opitz' Trigonocephaly Syndrome, also called C-syndrome is an important autosomal recessive inherited disorder with characteristic synostosis of metopic suture, craniofacial abnormalities and severe mental retardation. Some patients show chromosomal aberrations with the possibility of prenatal diagnosis. Are reported on three children from two families with typical dysmorphic stigmata of the syndrome.
Asunto(s)
Anomalías Múltiples , Huesos Faciales/anomalías , Discapacidad Intelectual/complicaciones , Microcefalia/complicaciones , Humanos , Recién Nacido , Masculino , SíndromeRESUMEN
Ultrasound examination of a 27-year-old primigravida at 26 weeks' gestation revealed fetal growth retardation, malformation of the ventricular septum, and a neck fold. Chromosome analysis of the amniotic fluid showed an abnormal 46,XY karyotype with an obvious metacentric chromosome 17. Chromosome analysis of the mother revealed a balanced t (17;22) (p13;q12) translocation. The fetus thus has a rare familial duplication 22q12----qter. Eight live-born and severely malformed infants with this duplication have been reported in the literature.
Asunto(s)
Amniocentesis , Aberraciones Cromosómicas/diagnóstico , Cromosomas Humanos Par 22 , Trisomía , Adulto , Trastornos de los Cromosomas , Femenino , Retardo del Crecimiento Fetal/etiología , Humanos , Cariotipificación , Embarazo , Segundo Trimestre del Embarazo , Translocación GenéticaRESUMEN
FND is a non-uniform malformation complex with symptoms ranging between severe hypertelorism with bidfid nose and cranium bidfidum occultum with agenesis of the corpus callosum. Etiology and pathogenesis are discussed on the basis of a case history and some hints regarding differential diagnosis and genetic counselling are given. The exclusively sporadic occurrence of FND tells against a hereditary pathomechanism. Consequently, there is no recurrence risk. However, in families with an affected child, malformations generally tend to occur a little more often.
Asunto(s)
Agenesia del Cuerpo Calloso , Labio Leporino/genética , Fisura del Paladar/genética , Hipertelorismo/genética , Nariz/anomalías , Anomalías Múltiples/genética , Ventrículos Cerebrales/anomalías , Diagnóstico Diferencial , Humanos , Recién Nacido , MasculinoRESUMEN
A 4 year prospective study (1982 to 1985) of high school varsity football injuries from the four Peoria high school football teams was undertaken. Two hundred fifty-one injuries were recorded among a player population of 598, resulting in an injury rate of 42.1% per 100 players. All of the players followed a prescribed preseason summer conditioning program that was endorsed by the Illinois High School Athletic Association. The injuries were recorded on an athletic injury profile and entered into a computer for data analysis and retrieval. The injury distribution by player position showed that halfbacks, tackles, linebackers, and guards had a higher risk of injury than other positions. The knee was the body part injured most frequently (20.3%). A matrix of injuries to halfbacks was set up to examine the relationship of body part injured to type of play, time of injury, and activity during injury. An anthropometric study using the Quetelet index did not reveal any correlation between injury and body size when the injured players were compared with the non-injured players. Experience since 1969 has taught us many of the errors and pitfalls involved in injury surveillance. Strict adherence to recording of data will ensure an accurate and useful injury surveillance program.
Asunto(s)
Fútbol Americano/lesiones , Constitución Corporal , Recolección de Datos , Humanos , Estudios Prospectivos , Factores de RiesgoRESUMEN
Complications in the treatment of displaced supracondylar fractures of the humerus (DSFH), particularly cubitus varus, are a persistent problem. A prospective study was conducted on 20 children with DSFH, using a modified technique to reduce and pin the fracture. All fractures were treated with closed reduction and percutaneous pinning. After the fracture was internally fixed, intraoperative anteroposterior roentgenograms of each distal humerus were compared, using Baumann's angle. The reduction was accepted if Baumann's angle on the fractured extremity was within 4 degrees of that on the normal side. If the angles were not within 4 degrees, the closed reduction and percutaneous pinning was repeated. In this prospective series, all patients had a reduction to within 4 degrees of the normal side before they left the operating room. Three weeks after percutaneous pinning, the pins were removed and range of motion was begun. All patients returned for clinical and roentgenographic examination. With an average follow-up period of 17.2 months, all patients had excellent or good results. No patient developed cubitus varus deformity. Strict adherence to the guidelines of the protocol prevented cubitus varus deformity in this series of children with DSFH.
Asunto(s)
Clavos Ortopédicos , Fracturas Cerradas/cirugía , Fracturas del Húmero/cirugía , Niño , Preescolar , Articulación del Codo/diagnóstico por imagen , Femenino , Humanos , Lactante , Masculino , Complicaciones Posoperatorias/etiología , Estudios Prospectivos , RadiografíaAsunto(s)
Choque Séptico/metabolismo , Animales , Modelos Animales de Enfermedad , Masculino , Ratas , Ratas EndogámicasRESUMEN
The synthesis of substituted pteridine-5,8-dioxides (6) via reaction of furoxanes (5) with enolizing carbonyl compounds is described. Compounds 5 are obtained either through reaction of chloro pyrimidines 1 with sodium azide, or through diazotization of hydrazino pyrimidine 2 and subsequent thermal decomposition of 3 or through nucleophilic displacement of methoxy against amino groups in 5. The antibacterial activity of the compounds 6a and 6c is directed against some gramnegative organisms, i.e. E. coli, Klebsiella spp. and Proteus spp., with MIC values and ED50 values which do not exceed those of the corresponding pyridol [2,3-b]pyrazine-1,4-dioxides.
Asunto(s)
Antibacterianos/síntesis química , Pteridinas/síntesis química , Animales , Bacterias/efectos de los fármacos , Infecciones Bacterianas/tratamiento farmacológico , Fenómenos Químicos , Química , Pteridinas/farmacologíaRESUMEN
The position selective synthesis of substituted pyrido[2,3-b]-pyrazine-1,4-dioxides is reported. Compound 3g was subjected to a series of screening-tests for antibacterial activity and compared to therapeutical standards. The range of antibacterial activity mainly comprises enterobacteriaceae, above all E. coli, Klebsiella, Proteus and Shigella strains. Activity against gram-positive organisms and Serratia is much weaker and completely lacking with Pseudomonas. Therapeutic activity in septicaemic infections of the mouse is very good, especially in the case of E. coli infection with an ED50 of 13 mg/kg mouse for s.c. application. With p.o. application 3g shows activity comparable to nalidixic acid and nitrofurantoin in the experimental acute pyelonephritis in the mouse. The activity of 3g, however, is clearly inferior to that of gentamicin.