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1.
Acta Neurochir (Wien) ; 166(1): 401, 2024 Oct 09.
Artículo en Inglés | MEDLINE | ID: mdl-39382611

RESUMEN

PURPOSE: Hydrocephalus presents diagnostic and management challenges due to its heterogeneity. The ASPECT Hydrocephalus System, introduced in 2023, offers a comprehensive approach to describing patients with hydrocephalus. This study investigates the clinical applicability of the ASPECT Hydrocephalus System compared to the International Classification of Disease (ICD-10) and demonstrates its utility. METHODS: Two hundred pediatric and adult patients with hydrocephalus treated at Copenhagen University Hospital between September 2019 and 2020 were described according to the ASPECT Hydrocephalus System. The latest brain imaging served as assessment point. RESULTS: Forty-seven percent of patients had more than one ICD-10 code assigned, and 40.5% of patients had an unspecific ICD-10 code as the most recent. It was possible to apply factor A (anatomy), S (symptomatology), P (previous interventions), C (complications) and T (time of onset) to all patients. Factor E (etiology) categorized 15% of patients as 'unknown'. Combining factor A and S showed a similar incidence of acute high-pressure symptoms in patients with and without ventriculomegaly on imaging (39.7% vs 39.3%), demonstrating how symptoms and neuro-radiological findings do not necessarily correlate. CONCLUSION: The ASPECT Hydrocephalus System's applicability and utility were demonstrated in a large, diverse patient population. Except for 'Etiology', all factors could be applied to the entire population showing the system's robustness. While limitations in ICD-10 may force clinicians to choose between clinical measures, the ASPECT Hydrocephalus System allows comprehensive patient characterization, potentially aiding in clinical decision-making and research. Its use depends on registration quality. Application in prospective cohorts is warranted to assure feasibility.


Asunto(s)
Hidrocefalia , Clasificación Internacional de Enfermedades , Humanos , Hidrocefalia/cirugía , Hidrocefalia/diagnóstico por imagen , Femenino , Masculino , Adulto , Persona de Mediana Edad , Adolescente , Anciano , Niño , Adulto Joven , Preescolar , Lactante , Anciano de 80 o más Años
2.
Artículo en Inglés | MEDLINE | ID: mdl-38815354

RESUMEN

After a revision surgery, approximately 1-2 % of patients will develop a periprosthetic joint infection (PJI). During the revision surgery, the infected prosthesis is removed, a debridement is performed and a new or temporary spacer is placed. Additionally, patients are treated with antibiotics during and after the surgery. Adequate exposure of the administered antibiotic to the pathogen is of crucial importance during the treatment of any infection. Inadequately low concentrations are associated with an increase in antibiotic resistance, antibiotic related side effects, treatment failures and prolonged infections. While high concentrations may lead to serious adverse events and potential lasting damage. Despite the importance of optimal dosing, there is a lack of knowledge with respect to the correlation between the plasma concentrations and target site concentrations of the antibiotics. Two of the commonly administered antimicrobial agents during the arthroplasty exchange are cefuroxime and flucloxacillin. Therefore, an accurate, specific, and sensitive quantification method is required in order to assess pharmacokinetics of cefuroxime and flucloxacillin in synovial tissue and bone. The aim of this study is to develop and validate a quantification method for the measurement of cefuroxime and flucloxacillin in human synovial tissue and bone using the UPC2-MS/MS conform Food and Drug Administration guidelines. The method was found linear for both compounds in both matrices (r2 > 0.990) from 1 µg/g to 20 µg/g, except for cefuroxime in bone, which was validated from 1 µg/g to 15 µg/g. We developed and validated a quantification method for cefuroxime and flucloxacillin in synovial tissue and bone using a simple sample preparation and a short analysis run time of 5.0 min, which has been already successfully applied in a clinical study. To our knowledge, no methods have been described earlier for the simultaneous quantification of cefuroxime and flucloxacillin in synovial tissue and bone.


Asunto(s)
Cefuroxima , Floxacilina , Espectrometría de Masas en Tándem , Humanos , Espectrometría de Masas en Tándem/métodos , Cefuroxima/análisis , Cefuroxima/farmacocinética , Cefuroxima/sangre , Cromatografía Líquida de Alta Presión/métodos , Modelos Lineales , Reproducibilidad de los Resultados , Floxacilina/análisis , Floxacilina/farmacocinética , Floxacilina/química , Antibacterianos/análisis , Antibacterianos/sangre , Antibacterianos/farmacocinética , Huesos/química , Huesos/metabolismo , Membrana Sinovial/química , Membrana Sinovial/metabolismo , Límite de Detección
3.
AJNR Am J Neuroradiol ; 43(2): 223-229, 2022 02.
Artículo en Inglés | MEDLINE | ID: mdl-34969666

RESUMEN

BACKGROUND AND PURPOSE: The Normal Pressure Hydrocephalus Radscale is a combined scoring of 7 different structural imaging markers on preoperative brain CT or MR imaging in patients with idiopathic normal pressure hydrocephalus: callosal angle, Evans Index, Sylvian fissure dilation, apical sulcal narrowing, mean temporal horn diameter, periventricular WM lesions, and focal sulcal dilation. The purpose of this retrospective study was to assess the performance of the Normal Pressure Hydrocephalus Radscale in distinguishing idiopathic normal pressure hydrocephalus shunt responders from nonresponders. MATERIALS AND METHODS: The preoperative MR imaging and CT scans of 119 patients with idiopathic normal pressure hydrocephalus were scored using the Normal Pressure Hydrocephalus Radscale. A summary shunt-response score assessed within 6 months from ventriculoperitoneal shunt surgery, combining the effect on cognition, gait, and urinary incontinence, was used as a reference. The difference between the mean Normal Pressure Hydrocephalus Radscale for responders and nonresponders was tested using the Student t test. The area under the curve was calculated for the Normal Pressure Hydrocephalus Radscale to assess shunt response. To ascertain reproducibility, we assessed the interobserver agreement between the 2 independent observers as intraclass correlation coefficients for the Normal Pressure Hydrocephalus Radscale for 74 MR imaging scans and 19 CT scans. RESULTS: Ninety-four (79%) of 119 patients were shunt responders. The mean Normal Pressure Hydrocephalus Radscale score for shunt responders was 8.35 (SD, 1.53), and for nonresponders, 7.48 (SD, 1.53) (P = .02). The area under the curve for the Normal Pressure Hydrocephalus Radscale was 0.66 (range, 0.54-0.78). The intraclass correlation coefficient for the Normal Pressure Hydrocephalus Radscale was 0.86 for MR imaging and 0.82 for CT. CONCLUSIONS: The Normal Pressure Hydrocephalus Radscale showed moderate discrimination for shunt response but cannot, on its own, be used for selecting patients with idiopathic normal pressure hydrocephalus for shunt surgery.


Asunto(s)
Hidrocéfalo Normotenso , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Encéfalo/cirugía , Humanos , Hidrocéfalo Normotenso/complicaciones , Hidrocéfalo Normotenso/diagnóstico por imagen , Hidrocéfalo Normotenso/cirugía , Neuroimagen/métodos , Reproducibilidad de los Resultados , Estudios Retrospectivos
4.
Radiography (Lond) ; 25(2): 143-147, 2019 05.
Artículo en Inglés | MEDLINE | ID: mdl-30955687

RESUMEN

PURPOSE: To investigate whether software optimisation can improve an observers' perception of image quality in low dose paediatric pelvic examinations. METHODS: Twenty-five consecutive patients (3-7 years old) were referred for a pelvic digital radiography (DR) examination. They were prospectively enrolled in the study over a 3-month period. Images were taken at 80 kV and 2-4 mAs depending on pelvic thickness (9-15 cm). A small focal spot, 130 cm SID: 10 cm air gap and 1 mm Al and 0.2 mm Cu additional filtration were also utilised. Images were acquired on a Canon DR detector and optimised using five different combinations of the multi-frequency processing software (Canon DR system version NE, Version 7.1 with SPECTRA) to comply with the ALARA principle. Image quality was blindly evaluated using the subjective Visual Grading Analysis (VGA) by five experienced musculoskeletal radiologists, including the evaluation of six anatomical image quality criteria (scored from 1 to 5). RESULTS: Consistently, the VGA results indicated that by using software optimised parameters, image quality was suitable for diagnosis in 48-71% of all images. Based on a VGC analysis all software optimised images did have significant better image quality then the one with just the clinical settings. Noise reduction was the software setting which influenced the image quality the most, area under the curve (AUC) of 0.8172 95%CI 0.7953-0.8375. CONCLUSION: Software optimisation improve the radiologists' perception of image quality and should thus be thoroughly considered within clinical practise. Noise reduction is the software parameter which has the greatest influence.


Asunto(s)
Pelvis/diagnóstico por imagen , Percepción , Intensificación de Imagen Radiográfica/métodos , Radiólogos/psicología , Programas Informáticos , Niño , Preescolar , Femenino , Humanos , Masculino , Estudios Prospectivos , Dosis de Radiación
5.
BMC Neurol ; 16: 93, 2016 Jun 17.
Artículo en Inglés | MEDLINE | ID: mdl-27315805

RESUMEN

BACKGROUND: An understanding of the kinetics of a biomarker is essential to its interpretation. Despite this, little kinetic modelling of blood biomarkers can be found in the literature. S100b is an astrocyte related marker of brain injury used primarily in traumatic brain injury (TBI). Serum levels are expected to be the net result of a multi-compartmental process. The optimal sample times for TBI prognostication, and to follow injury development, are unclear. The purpose of this study was to develop a kinetic model to characterise the temporal course of serum S100b concentration after primary traumatic brain injury. METHODS: Data of serial serum S100b samples from 154 traumatic brain injury patients in a neurointensive care unit were retrospectively analysed, including only patients without secondary peaks of this biomarker. Additionally, extra-cranial S100b can confound samples earlier than 12 h after trauma and were therefore excluded. A hierarchical, Bayesian gamma variate kinetic model was constructed and the parameters estimated by Markov chain Monte Carlo sampling. RESULTS: We demonstrated that S100b concentration changes dramatically over timescales that are clinically important for early prognostication with a peak at 27.2 h (95 % credible interval [25.6, 28.8]). Baseline S100b levels was found to be 0.11 µg/L (95 % credible interval [0.10, 0.12]). CONCLUSIONS: Even small differences in injury to sample time may lead to marked changes in S100b during the first days after injury. This must be taken into account in interpretation. The model offers a way to predict the peak and trajectory of S100b from 12 h post trauma in TBI patients, and to identify deviations from this, possibly indicating a secondary event. Kinetic modelling, providing an equation for the peak and projection, may offer a way to reduce the ambiguity in interpretation of, in time, randomly sampled acute biomarkers and may be generally applicable to biomarkers with, in time, well defined hits.


Asunto(s)
Lesiones Traumáticas del Encéfalo/sangre , Modelos Biológicos , Subunidad beta de la Proteína de Unión al Calcio S100/sangre , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Teorema de Bayes , Biomarcadores/sangre , Femenino , Humanos , Cinética , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Adulto Joven
6.
Int J Legal Med ; 129(4): 793-800, 2015 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-25467552

RESUMEN

Sudden cardiac death (SCD) is responsible for a large proportion of sudden deaths in young individuals. In forensic medicine, many cases remain unexplained after routine postmortem autopsy and conventional investigations. These cases are called sudden unexplained deaths (SUD). Genetic testing has been suggested useful in forensic medicine, although in general with a significantly lower success rate compared to the clinical setting. The purpose of the study was to estimate the frequency of pathogenic variants in the genes most frequently associated with SCD in SUD cases and compare the frequency to that in patients with inherited cardiac channelopathies. Fifteen forensic SUD cases and 29 patients with channelopathies were investigated. DNA from 34 of the genes most frequently associated with SCD were captured using NimbleGen SeqCap EZ library build and were sequenced with next-generation sequencing (NGS) on an Illumina MiSeq. Likely pathogenic variants were identified in three out of 15 (20%) forensic SUD cases compared to 12 out of 29 (41%) patients with channelopathies. The difference was not statistically significant (p = 0.1). Additionally, two larger deletions of entire exons were identified in two of the patients (7%). The frequency of likely pathogenic variants was >2-fold higher in the clinical setting as compared to SUD cases. However, the demonstration of likely pathogenic variants in three out of 15 forensic SUD cases indicates that NGS investigations will contribute to the clinical investigations. Hence, this has the potential to increase the diagnostic rate significantly in the forensic as well as in the clinical setting.


Asunto(s)
Canalopatías/genética , Muerte Súbita Cardíaca/etiología , Secuenciación de Nucleótidos de Alto Rendimiento , Adolescente , Adulto , Niño , Preescolar , Femenino , Genética Forense , Humanos , Mutación INDEL , Lactante , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple , Análisis de Secuencia de ADN , Adulto Joven
7.
Clin Genet ; 84(5): 489-95, 2013 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-23414114

RESUMEN

More than 300 variants in 12 genes have been associated with Brugada syndrome (BrS) which has a prevalence ranging between 1:2000 and 1:100,000. Until recently, there has been little knowledge regarding the distribution of genetic variations in the general population. This problem was partly solved, when exome data from the NHLI GO Exome Sequencing Project (ESP) was published. In this study, we aimed to report the prevalence of previously BrS-associated variants in the ESP population. We performed a search in ESP for variants previously associated with BrS. In addition, four variants in ESP were genotyped in a second Danish control population (n = 536) with available electrocardiograms. In ESP, we identified 38 of 355 (10%) variants, distributed on 272 heterozygote carriers and two homozygote carriers. The genes investigated were on average screened in 6258 individuals. This corresponds to a surprisingly high genotype prevalence of 1:23 (274:6258). Genotyping the four common ESP-derived variants CACNA2D1 S709N, SCN5A F2004L, CACNB2 S143F, and CACNB2 T450I in the Danish controls, we found a genotype prevalence comparable with that found in ESP. We suggest that exome data are used in research, as an additive tool to predict the pathogenicity of variants in patients suspected for BrS.


Asunto(s)
Síndrome de Brugada/genética , Canales de Calcio Tipo L/genética , Canales de Calcio/genética , Exoma , Canal de Sodio Activado por Voltaje NAV1.5/genética , Polimorfismo de Nucleótido Simple , Anciano , Síndrome de Brugada/diagnóstico , Síndrome de Brugada/epidemiología , Dinamarca/epidemiología , Electrocardiografía , Femenino , Pruebas Genéticas , Genotipo , Técnicas de Genotipaje , Heterocigoto , Homocigoto , Humanos , Masculino , Persona de Mediana Edad , Prevalencia
8.
Neuropathol Appl Neurobiol ; 39(2): 179-91, 2013 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-22497211

RESUMEN

AIMS: Aquaporin-4 (AQP4) is the most abundant cellular water channel in brain and could be a molecular basis for a cerebrospinal fluid absorption route additional to the arachnoid villi. In the search for 'alternative' cerebrospinal fluid absorption pathways it is important to compare experimental findings with human pathophysiology. This study compares expression of AQP4 in hydrocephalic human brain with human controls and hydrocephalic rat brain. METHODS: Cortical biopsies from patients with chronic hydrocephalus (n = 29) were sampled secondary to planned surgical intervention. AQP4 in human hydrocephalic cortex relative to controls was quantified by Western blotting (n = 28). A second biopsy (n = 13) was processed for immunohistochemistry [glial fibrillary acidic protein (GFAP), CD68, CD34 and AQP4] and double immunofluorescence (AQP4 + GFAP and AQP4 + CD34). Brain tissue from human controls and kaolin-induced hydrocephalic rats was processed in parallel. Immunohistochemistry and immunofluorescence were assessed qualitatively. RESULTS: Western blotting showed that AQP4 abundance was significantly increased (P < 0.05) in hydrocephalic human brain compared with controls. AQP4 immunoreactivity was present in both white and grey matter. In human brain (hydrocephalic and controls) AQP4 immunoreactivity was found on the entire astrocyte membrane, unlike hydrocephalic rat brain where pronounced endfeet polarization was present. Endothelial AQP4 immunoreactivity was not observed. CONCLUSIONS: This study shows a significant increase in astrocytic AQP4 in human hydrocephalic cortex compared with control. Cell type specific expression in astrocytes is conserved between rat and human, although differences of expression in specific membrane domains are seen. This study addresses direct translational aspects from rat to human, hereby emphasizing the relevance and use of models in hydrocephalus research.


Asunto(s)
Acuaporina 4/metabolismo , Astrocitos/metabolismo , Encéfalo/metabolismo , Hidrocefalia/metabolismo , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Animales , Modelos Animales de Enfermedad , Femenino , Técnica del Anticuerpo Fluorescente , Humanos , Masculino , Persona de Mediana Edad , Ratas , Adulto Joven
9.
J Thromb Haemost ; 8(8): 1723-9, 2010 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-20492468

RESUMEN

OBJECTIVE: Our objective was to provide a comprehensive description of fatal pulmonary embolism (PE) in younger persons. Specifically, we recorded information on symptoms, comorbidity, medical contact, if this had been required, and subsequent autopsy findings. METHODS: We reviewed all death certificates from persons aged 0-35 years who had died between 1 January 2000 and 31 December 2006, and retrospectively identified all cases of fatal PE. Additional information was retrieved from the National Patient Registry, autopsy reports, and clinical charts. RESULTS: Sixty-one cases of fatal PE were included; 38% of these were in males. The median age was 29 years. The predominant symptoms were dyspnea, syncope, leg pains, and chest pains. Sixty-three per cent of patients reportedly experienced symptoms for days, weeks, or months. More than half of the patients had sought medical care, and at the time of medical evaluation the majority of the patients were not hemodynamically compromised. In 21% cases, the correct diagnosis was reached before death; however, in only 5% of cases was this accomplished before clinical deterioration. Furthermore, clinical history and subsequent postmortem examinations showed that approximately half of younger persons dying from PE were otherwise healthy, and in no case was occult cancer diagnosed. CONCLUSIONS: Our data show that a substantial proportion of younger victims of fatal PE had experienced symptoms for an extended period of time. Furthermore, the correct diagnosis remained elusive in the majority of cases, even though approximately half of the subjects had sought medical evaluation for symptoms that, in retrospect, were most likely caused by a venothrombotic event.


Asunto(s)
Autopsia , Embolia Pulmonar/diagnóstico , Embolia Pulmonar/mortalidad , Adolescente , Adulto , Índice de Masa Corporal , Enfermedad Crónica/mortalidad , Comorbilidad , Dinamarca , Femenino , Humanos , Masculino , Sobrepeso , Estudios Retrospectivos , Resultado del Tratamiento , Trombosis de la Vena/diagnóstico , Trombosis de la Vena/mortalidad
10.
Eur J Clin Microbiol Infect Dis ; 28(12): 1431-5, 2009 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-19685347

RESUMEN

Hemolytic uremic syndrome (HUS) is a serious health concern in children. HUS has primarily been linked to Escherichia coli O157:H7 infections, but non-O157 strains are gaining attention. Hemolytic anemia, thrombocytopenia, and acute renal failure are the characteristics of the syndrome. This study investigated the incidence of HUS at a regional Children's Hospital between 2001 and 2006 by retrospective review. Cases of HUS were investigated for outcomes based on stool culture and an association of acute pancreatitis. A total of 44 cases were identified, of which 57% were female and 43% were male, with an age distribution of 13 months to 17 years and a median age of 3.44 years. Data revealed 13 cases in 2006 compared to two cases in 2001, with 84% of all illnesses occurring in the summer and fall seasons. The median duration of thrombocytopenia was eight days and 50% of all cases required dialysis. E. coli O157:H7 was the predominant pathogen; however, 53% of the cases had unknown etiology. This data may suggest a growing number of cases from 2001 to 2006 and a role for agents other than E. coli O157:H7. E. coli O157:H7 caused longer intensive care unit (ICU) stay. No association between HUS and acute pancreatitis was found.


Asunto(s)
Infecciones por Escherichia coli/complicaciones , Infecciones por Escherichia coli/epidemiología , Síndrome Hemolítico-Urémico/epidemiología , Síndrome Hemolítico-Urémico/microbiología , Adolescente , Anemia , Niño , Preescolar , Infecciones por Escherichia coli/patología , Infecciones por Escherichia coli/fisiopatología , Escherichia coli O157/aislamiento & purificación , Heces/microbiología , Femenino , Síndrome Hemolítico-Urémico/patología , Síndrome Hemolítico-Urémico/fisiopatología , Hospitales Pediátricos , Humanos , Incidencia , Lactante , Masculino , Pancreatitis Aguda Necrotizante/etiología , Diálisis Renal , Estudios Retrospectivos , Estaciones del Año , Trombocitopenia , Resultado del Tratamiento , Estados Unidos
11.
Laryngorhinootologie ; 88(11): 723-8, 2009 Nov.
Artículo en Alemán | MEDLINE | ID: mdl-19629929

RESUMEN

OBJECTIVE: Data about the effect of unilateral or bilateral cleft lip and palate (CLP) on speech quality are inconsistent. In this study we firstly quantify the intelligibility of children with unilateral and bilateral CLP objectively by means of automatic speech recognition system (ASR). METHODS: Speech data of 72 German speaking children (8.7+/-3.0 years) with CLP thereof 17 children with bilateral CLP, 23 with CLP on the right side, and 32 on the left, were compared. A group of 159 children aged 9.1+/-2.9 years served as control group. To quantify intelligibility we calculated the word recognition rate (WR) as the percentage of correctly recognized words of a standardized speech test (PLAKSS). RESULTS: Between the 3 cleft groups, there was no significant difference in WR. Compared to the control group (WR mean 63.5%+/-12.1%), the patient group (WR mean 48.1%+/-16.3%) shows significant lower WR (p< 0.001). The WR rises with increasing age in the control group and in the patient groups with unilateral cleft significantly. This couldn't be observed in the children with bilateral CLP. In this group the males showed a significantly higher WR than the females. In the control group as in the patient groups with unilateral cleft there is no significant difference between girls and boys. CONCLUSIONS: Despite the greater extent of the malformation of children with a bilateral CLP, there is no significant difference to the children with only a unilateral cleft lip and palate.


Asunto(s)
Labio Leporino/diagnóstico , Fisura del Paladar/diagnóstico , Inteligibilidad del Habla , Factores de Edad , Niño , Preescolar , Femenino , Humanos , Masculino , Valores de Referencia , Factores Sexuales , Software de Reconocimiento del Habla
12.
Genes Immun ; 8(7): 539-51, 2007 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-17713557

RESUMEN

Visceral leishmaniasis (VL) caused by Leishmania chagasi is endemic to northeast Brazil. A positive delayed-type hypersensitivity skin test response (DTH+) is a marker for acquired resistance to disease, clusters in families and may be genetically controlled. Twenty-three single nucleotide polymorphisms (SNPs) were genotyped in the cytokine 5q23.3-q31.1 region IRF1-IL5-IL13-IL4-IL9-LECT2-TGFBI in 102 families (323 DTH+; 190 DTH-; 123 VL individuals) from a VL endemic region in northeast Brazil. Data from 20 SNPs were analyzed for association with DTH+/- status and VL using family-based, stepwise conditional logistic regression analysis. Independent associations were observed between the DTH+ phenotype and markers in separate linkage disequilibrium blocks in LECT2 (OR 2.25; P=0.005; 95% CI=1.28-3.97) and TGFBI (OR 1.94; P=0.003; 95% CI=1.24-3.03). VL child/parent trios gave no evidence of association, but the DTH- phenotype was associated with SNP rs2070874 at IL4 (OR 3.14; P=0.006; 95% CI=1.38-7.14), and SNP rs30740 between LECT2 and TGFBI (OR 3.00; P=0.042; 95% CI=1.04-8.65). These results indicate several genes in the immune response gene cluster at 5q23.3-q31.1 influence outcomes of L. chagasi infection in this region of Brazil.


Asunto(s)
Cromosomas Humanos Par 5/genética , Hipersensibilidad Tardía/genética , Leishmania infantum , Leishmaniasis Visceral/genética , Leishmaniasis Visceral/inmunología , Polimorfismo de Nucleótido Simple , Alelos , Animales , Brasil , Estudios de Casos y Controles , Biología Computacional , Femenino , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Leishmaniasis Visceral/parasitología , Modelos Logísticos , Masculino , Fenotipo , Alineación de Secuencia
14.
Genes Immun ; 8(1): 84-90, 2007 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-17122780

RESUMEN

A genome-wide scan was conducted for visceral leishmaniasis (VL) in Brazil. Initially, 405 markers were typed in 22 multicase pedigrees (28 nuclear families; 174 individuals; 66 affected). Non-parametric multipoint analysis detected nine chromosomal regions with provisional evidence (logarithm of the odds (LOD) scores 0.95-1.66; 0.003

Asunto(s)
Predisposición Genética a la Enfermedad , Genoma Humano , Leishmaniasis Visceral/genética , Leishmaniasis Visceral/inmunología , Brasil , Quimiocina CCL1 , Quimiocinas CC/genética , Humanos , Desequilibrio de Ligamiento , Polimorfismo de Nucleótido Simple
15.
Int J Paediatr Dent ; 16(5): 320-6, 2006 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-16879328

RESUMEN

OBJECTIVES: The aim was to assess signs and symptoms from other ectodermal organs in addition to teeth in young individuals with oligodontia and to establish the prevalence of oligodontia. SAMPLE AND METHODS: Children born 1981-94 reported by dental teams in the Public Dental Service to have oligodontia were asked to participate in a clinical study. The examinations comprised a structured interview on symptoms from ectodermal organs, and testing of salivary secretion. RESULTS: One hundred and sixty-two individuals met the inclusion criteria, and 123 individuals (75.9%) participated in the clinical study. Half of the individuals had one to four signs or symptoms from ectodermal organs beside oligodontia. The most common sign was low salivary secretion. Twelve individuals (9.6%) with isolated oligodontia reported impaired function of the sweat glands, hair, or nails. The prevalence of oligodontia was 0.090%. CONCLUSIONS: An early identification of individuals with oligodontia can be made in a majority of cases by checking that all permanent incisors have erupted at the age of 8 years. The validity in asking individuals about normal and abnormal function of ectodermal organs was found to be low. This indicates that there is a strong need to establish routine clinical criteria for dysplasia of ectodermal organs.


Asunto(s)
Anodoncia/epidemiología , Displasia Ectodérmica/epidemiología , Xerostomía/epidemiología , Adolescente , Adulto , Factores de Edad , Niño , Femenino , Humanos , Entrevistas como Asunto , Masculino , Prevalencia , Suecia/epidemiología , Erupción Dental
16.
Proc Natl Acad Sci U S A ; 98(11): 6429-34, 2001 May 22.
Artículo en Inglés | MEDLINE | ID: mdl-11344260

RESUMEN

Lissencephaly is a severe brain malformation in humans. To study the function of the gene mutated in lissencephaly (LIS1), we deleted the first coding exon from the mouse Lis1 gene. The deletion resulted in a shorter protein (sLIS1) that initiates from the second methionine, a unique situation because most LIS1 mutations result in a null allele. This mutation mimics a mutation described in one lissencephaly patient with a milder phenotype. Homozygotes are early lethal, although heterozygotes are viable and fertile. Most strikingly, the morphology of cortical neurons and radial glia is aberrant in the developing cortex, and the neurons migrate more slowly. This is the first demonstration, to our knowledge, of a cellular abnormality in the migrating neurons after Lis1 mutation. Moreover, cortical plate splitting and thalomocortical innervation are also abnormal. Biochemically, the mutant protein is not capable of dimerization, and enzymatic activity is elevated in the embryos, thus a demonstration of the in vivo role of LIS1 as a subunit of PAF-AH. This mutation allows us to determine a hierarchy of functions that are sensitive to LIS1 dosage, thus promoting our understanding of the role of LIS1 in the developing cortex.


Asunto(s)
Corteza Cerebral/embriología , Proteínas Asociadas a Microtúbulos/fisiología , 1-Alquil-2-acetilglicerofosfocolina Esterasa , Animales , Axones/fisiología , Dendritas/fisiología , Dimerización , Marcación de Gen , Humanos , Ratones , Proteínas Asociadas a Microtúbulos/genética , Proteínas Asociadas a Microtúbulos/metabolismo , Microtúbulos/metabolismo , Mutagénesis
17.
Eur J Neurosci ; 12(3): 994-1001, 2000 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-10762330

RESUMEN

Inhibitory glycine receptors (GlyRs) are known to mediate postsynaptic inhibition in spinal cord, brain stem and some higher brain regions. Several developmentally and regionally regulated GlyR isoforms exist, which result from a differential expression of the GlyR alpha (alpha1-alpha4) and beta subunit genes. Currently, very little is known about GlyRs containing the alpha4 subunit, whose existence was predicted from a partial genomic sequence. Here, we describe the isolation of complementary DNA (cDNA) sequences for the mouse and chick GlyR alpha4 subunits. We show that a mouse GlyR alpha4 subunit full-length cDNA directs the formation of functional homo-oligomeric strychnine-sensitive GlyRs in Xenopus laevis oocytes and mammalian cells, and that these resemble GlyRs composed of the alpha1 subunit in pharmacological profile and single-channel properties. In situ hybridization reveals high levels of GlyR alpha4 subunit transcripts in the embryonic (E13) chick spinal cord, lumbosacral sympathetic ganglia and dorsal root ganglia. The avian GlyR alpha4 subunit gene also shows male-specific expression in the developing genital ridge. The pharmacological profile of alpha4 subunit-containing receptors and deduced location of the avian GlyR alpha4 subunit are consistent with it being a component of the embryonic excitatory GlyRs previously identified in sympathetic neurons. Our data also suggest a novel role for GlyRs in the maturation of reproductive organs.


Asunto(s)
Genitales Masculinos/embriología , Genitales Masculinos/metabolismo , Receptores de Glicina/metabolismo , Médula Espinal/embriología , Médula Espinal/metabolismo , Sistema Nervioso Simpático/embriología , Sistema Nervioso Simpático/metabolismo , Secuencia de Aminoácidos , Animales , Línea Celular , Células Cultivadas , Embrión de Pollo , ADN Complementario/biosíntesis , ADN Complementario/genética , Electrofisiología , Femenino , Hibridación in Situ , Masculino , Ratones , Datos de Secuencia Molecular , Oocitos/metabolismo , Técnicas de Placa-Clamp , Embarazo , ARN Mensajero/biosíntesis , Ratas , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Xenopus laevis
18.
Swed Dent J ; 23(2-3): 71-6, 1999.
Artículo en Inglés | MEDLINE | ID: mdl-10431342

RESUMEN

Community dentistry in Blekinge aims at age-specific levels of dental health. For 6-year-old children the goal is that > 65 percent will have dmft = 0 in the year 2000. At present there is no study on dental health in 6-year-olds in Blekinge. The aims of the present study are to establish baseline epidemiological data on dental caries in the county of Blekinge, expressed as dentin lesions and enamel lesions, to analyse these data and to formulate program oriented planning of dental care for pre-school children to achieve the dental health goal for the year 2000. The material comprised a random sample of 213 children. The sample was drawn from the population register for children living in the county of Blekinge. A clinical investigation was performed by one of the authors and was completed with bite-wing radiographs whenever the proximal surface could not be inspected clinically. In addition the parents were asked questions about tooth-brushing and use of fluoride tablets. Fifty-six percent of the children had filled lesions and manifest lesions (dfs), 65 percent had enamel caries lesions (dsi) and 42 percent had manifest lesions (ds). Fifty-three percent had dmft > 0. The finding of initial lesions in 65 percent of the children indicates that caries prevalence is greatly underestimated. Together with poor oral hygiene, this means an increase in the risk of caries progression. The pattern of dental health was very skewed among the children; 23 percent had between 5 and fourteen decayed or filled teeth and 11 percent had from 5 to 23 manifest lesions. Clinics in Blekinge have had different strategies for preventive dental care. In 1997, however, all the public dental service clinics in Blekinge, adopted a uniform program for child dental care, focusing on primary prevention and risk assessment for each individual.


Asunto(s)
Caries Dental/epidemiología , Cariostáticos/administración & dosificación , Cariostáticos/uso terapéutico , Niño , Índice CPO , Atención Dental para Niños/estadística & datos numéricos , Caries Dental/diagnóstico por imagen , Caries Dental/prevención & control , Susceptibilidad a Caries Dentarias , Esmalte Dental/diagnóstico por imagen , Restauración Dental Permanente/estadística & datos numéricos , Dentina/diagnóstico por imagen , Progresión de la Enfermedad , Femenino , Fluoruros/administración & dosificación , Fluoruros/uso terapéutico , Planificación en Salud , Humanos , Masculino , Higiene Bucal/estadística & datos numéricos , Prevalencia , Radiografía de Mordida Lateral , Medición de Riesgo , Factores de Riesgo , Suecia/epidemiología , Comprimidos , Cepillado Dental/estadística & datos numéricos
19.
Ugeskr Laeger ; 161(49): 6790-1, 1999 Dec 06.
Artículo en Danés | MEDLINE | ID: mdl-10643366

RESUMEN

Cholecystoenteric fistula is a rare complication of biliary tract diseases. The symptoms are abdominal pain, fever, nausea, vomiting, flatulence, fat intolerance, diarrhoea and weight loss. The fistula may often be asymptomatic for a long time. We report a 76-year-old woman with a cholecystocolic fistula between the gallbladder and the right flexure of the colon. The symptoms were persistent right upper quadrant pain and diarrhoea. Barium enema demonstrated the fistula. The patient was treated with an open cholecystectomy and a resection of the fistula.


Asunto(s)
Fístula Biliar/diagnóstico , Enfermedades del Colon/diagnóstico , Fístula Intestinal/diagnóstico , Dolor Abdominal/diagnóstico , Anciano , Fístula Biliar/diagnóstico por imagen , Fístula Biliar/cirugía , Colecistectomía , Enfermedades del Colon/diagnóstico por imagen , Enfermedades del Colon/cirugía , Diagnóstico Diferencial , Diarrea/diagnóstico , Femenino , Humanos , Fístula Intestinal/diagnóstico por imagen , Fístula Intestinal/cirugía , Radiografía
20.
Swed Dent J ; 22(4): 143-8, 1998.
Artículo en Inglés | MEDLINE | ID: mdl-9850556

RESUMEN

The aim of this study was to evaluate the 3-year performance of tunnel restorations in Public Dental Service clinics in the county of Blekinge, Sweden. The restorations were made at the indication of a radiographically observed small proximal caries lesion extending into the outer part of dentin in permanent premolars and molars. A total of 302 restorations made by 17 dentists were evaluated 1 yr, 2 yrs and 3 yrs after placement using modified USPHS criteria. The preparations were filled with a cermet glass polyalkenoate cement (Ketac Silver, ESPE Gmbh, Germany). Evaluation was carried out by clinical and radiographical means. The percentage of successful and acceptable restorations was 92.7% after 1 yr, 89.5% after 2 yrs and 84.3% after 3 yrs. Eight % of the restorations failed due to caries, 6% fractured and 1% were replaced due to deep margin discoloration. The results indicate that tunnel restoration is a useful technique in small proximal dentin lesions in permanent premolars and molars.


Asunto(s)
Caries Dental/terapia , Preparación de la Cavidad Dental/métodos , Fracaso de la Restauración Dental , Restauración Dental Permanente/métodos , Adolescente , Adulto , Anciano , Diente Premolar , Cementos Cermet , Niño , Adaptación Marginal Dental , Dentina , Humanos , Estudios Longitudinales , Persona de Mediana Edad , Diente Molar , Evaluación de Resultado en la Atención de Salud
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