Clinical and genetical diagnosis of a case of Meretoja syndrome and frontotemporal lifting procedure.

A 56-year-old male with family background of corneal dystrophy presents with poor subjective vision. Biomicroscopy reveals bilateral reticular stromal dystrophy and facial inspection shows signs of muscle dysfunction, such as eyebrow ptosis, weakness and sagging of the frontal muscles, redundant skin on the forehead and skin hyperelasticity. The patient is referred to Plastic Surgery for evaluation of the frontal muscle involvement, undergoing a frontotemporal lifting procedure. On the other hand, genetics confirms the pathogenic variant c.640G>A (p.Asp214Asn) in the GSN gene, encoding gelsolin, a mutation associated with Finnish-type familial amyloidosis or Meretoja syndrome.

[Reliability of radiographic parameters to determine the surgical success in distal radius fractures]. / Reproducibilidad de parámetros radiográficos para determinar el éxito quirúrgico de fracturas de radio distal.

INTRODUCTION: distal radius fractures are the most common in upper extremities. Therefore, it is important to standardize radiographic measures for their surgical approach. This study assessed the intra/interobserver reproducibility of radiographic parameters associated with surgical success of distal radius fractures. MATERIAL AND METHODS: retrospective cross-sectional design of secondary data extracted from clinical records. Posteroanterior and lateral X-rays of 112 distal radius fractures were assessed by two trauma specialists standardized in the measurements required to compute five parameters indicative of postoperative success: radial height, radial inclination, volar tilt, ulnar variance, and articular stepoff. The reproducibility of distances and angles was evaluated using the Bland-Altman method, calculating the mean of the difference between measurements, the range at ± 2 SD, and the proportion of measurements outside ± 2 SD. Postoperative success was also compared between patients with and without obesity according to the mean of the two measures made by each evaluator. RESULTS: evaluator 1 had the largest intra-observer difference in radial height (0.16 mm) and the largest proportion outside ± 2 SD in ulnar variance (8.1%); evaluator 2 had the largest difference in volar tilt (1.92o) and the highest proportion in radial inclination (10.7%). The largest inter-observer difference was for ulnar variance (1.02 mm) and the largest proportion outside ± 2 SD. for radial height (5.4%). Radial tilt had the largest difference (1.41o) with 4.5% of measurements outside ± 2 SD. Ulnar variance and volar tilt had the largest difference in postoperative success between evaluators, especially in patients with obesity. CONCLUSION: improving the radiographic quality and standardizing the measurements results in more reproducible indicators.

INTRODUCCIÓN: las fracturas del radio distal son las más comunes en extremidades superiores. Estandarizar las mediciones radiográficas para su abordaje quirúrgico es importante. Este estudio midió la reproducibilidad intra/interobservador de parámetros radiográficos asociados al éxito quirúrgico en estas fracturas. MATERIAL Y MÉTODOS: diseño transversal retrospectivo con datos secundarios de expedientes clínicos. Se evaluaron radiografías de 112 fracturas en planos posteroanterior y lateral por dos traumatólogos estandarizados en toma de mediciones para calcular cinco parámetros indicativos de éxito postquirúrgico: altura radial, inclinación radial, inclinación volar, varianza cubital y escalón articular. La reproducibilidad de distancias y ángulos se evaluó con el método de Bland-Altman calculando: diferencia media entre mediciones, rango a ± 2 DE y proporción de mediciones fuera de ± 2 DE. El éxito postquirúrgico se comparó en pacientes con/sin obesidad según la media de las dos mediciones de cada evaluador. RESULTADOS: el evaluador 1 tuvo la mayor diferencia intraobservador en altura radial (0.16 mm) y la mayor proporción fuera de ± 2 DE en varianza cubital (8.1%); el evaluador 2 tuvo la mayor diferencia en inclinación volar (1.92o) y la mayor proporción en inclinación radial (10.7%). La mayor diferencia interobservador fue en varianza cubital (1.02 mm) y la mayor proporción fuera de ± 2 DE en altura radial (5.4%). La inclinación radial tuvo la mayor diferencia (1.41o) con 4.5% de mediciones fuera de ± 2 DE. La varianza cubital y la inclinación volar tuvieron la mayor diferencia de éxito postquirúrgico entre evaluadores, sobre todo en pacientes con obesidad. CONCLUSIÓN: mejorar la calidad radiográfica y estandarizar las mediciones resulta en indicadores más reproducibles.

Diagnosis of an X-linked type 2 congenital stationary night blindness using electroretinography and CACNA1F sequencing. / Diagnóstico de un caso de ceguera nocturna estacionaria congénita tipo 2 ligada al cromosoma X mediante electrorretinografía y secuenciación del gen CACNA1F.

A 4-year-old boy, with no history of relevance, presented with bilateral visual impairment, more so in scotopic conditions, and did not improve with optical correction. No significant funduscopic abnormalities were seen, leading to a suspicion of retinal dystrophy. Sequencing of the CACNA1F gene detected the c.3081C>A (p.Tyr1027Ter) mutation, which had occurred de novo in the patient's mother. This mutation, in the aforementioned clinical context, and with a compatible electronegative pattern, establishes the diagnosis of X-linked type 2 congenital stationary night blindness. Electrophysiology and genetic testing should be part of the diagnostic protocol for any unexplained loss of vision in children. The description, nomenclature and classification of hereditary retinal dystrophies based on their genotypic and electroretinograpic characteristics, avoids diagnostic errors due to their usual clinical and phenotypic overlap.

Trace elements of concern affecting urban agriculture in industrialized areas: A multivariate approach.

The urban and peri-urban soils used for agriculture could be contaminated by atmospheric deposition or industrial releases, thus raising concerns about the potential risk to public health. Here we propose a method to evaluate potential soil pollution based on multivariate statistics, geostatistics (kriging), a novel soil pollution index, and bioavailability assessments. This approach was tested in two districts of a highly populated and industrialized city (Gijón, Spain). The soils showed anomalous content of several trace elements, such as As and Pb (up to 80 and 585 mg kg-1 respectively). In addition, factor analyses associated these elements with anthropogenic activity, whereas other elements were attributed to natural sources. Subsequent clustering also facilitated the differentiation between the northern area studied (only limited Pb pollution found) and the southern area (pattern of coal combustion, including simultaneous anomalies of trace elements and benzo(a)pyrene). A normalized soil pollution index (SPI) was calculated by kriging, using only the elements falling above threshold levels; therefore point-source polluted zones in the northern area and diffuse contamination in the south were identified. In addition, in the six mapping units with the highest SPIs of the fifty studied, we observed low bioavailability for most of the elements that surpassed the threshold levels. However, some anomalies of Pb contents and the pollution fingerprint in the central area of the southern grid call for further site-specific studies. On the whole, the combination of a multivariate (geo) statistic approach and a bioavailability assessment allowed us to efficiently identify sources of contamination and potential risks.

Reproducibilidad de parámetros radiográficos para determinar el éxito quirúrgico de fracturas de radio distal / Reliability of radiographic parameters to determine the surgical success in distal radius fractures

Resumen: Introducción: las fracturas del radio distal son las más comunes en extremidades superiores. Estandarizar las mediciones radiográficas para su abordaje quirúrgico es importante. Este estudio midió la reproducibilidad intra/interobservador de parámetros radiográficos asociados al éxito quirúrgico en estas fracturas. Material y métodos: diseño transversal retrospectivo con datos secundarios de expedientes clínicos. Se evaluaron radiografías de 112 fracturas en planos posteroanterior y lateral por dos traumatólogos estandarizados en toma de mediciones para calcular cinco parámetros indicativos de éxito postquirúrgico: altura radial, inclinación radial, inclinación volar, varianza cubital y escalón articular. La reproducibilidad de distancias y ángulos se evaluó con el método de Bland-Altman calculando: diferencia media entre mediciones, rango a ± 2 DE y proporción de mediciones fuera de ± 2 DE. El éxito postquirúrgico se comparó en pacientes con/sin obesidad según la media de las dos mediciones de cada evaluador. Resultados: el evaluador 1 tuvo la mayor diferencia intraobservador en altura radial (0.16 mm) y la mayor proporción fuera de ± 2 DE en varianza cubital (8.1%); el evaluador 2 tuvo la mayor diferencia en inclinación volar (1.92o) y la mayor proporción en inclinación radial (10.7%). La mayor diferencia interobservador fue en varianza cubital (1.02 mm) y la mayor proporción fuera de ± 2 DE en altura radial (5.4%). La inclinación radial tuvo la mayor diferencia (1.41o) con 4.5% de mediciones fuera de ± 2 DE. La varianza cubital y la inclinación volar tuvieron la mayor diferencia de éxito postquirúrgico entre evaluadores, sobre todo en pacientes con obesidad. Conclusión: mejorar la calidad radiográfica y estandarizar las mediciones resulta en indicadores más reproducibles.

Abstract: Introduction: distal radius fractures are the most common in upper extremities. Therefore, it is important to standardize radiographic measures for their surgical approach. This study assessed the intra/interobserver reproducibility of radiographic parameters associated with surgical success of distal radius fractures. Material and methods: retrospective cross-sectional design of secondary data extracted from clinical records. Posteroanterior and lateral X-rays of 112 distal radius fractures were assessed by two trauma specialists standardized in the measurements required to compute five parameters indicative of postoperative success: radial height, radial inclination, volar tilt, ulnar variance, and articular stepoff. The reproducibility of distances and angles was evaluated using the Bland-Altman method, calculating the mean of the difference between measurements, the range at ± 2 SD, and the proportion of measurements outside ± 2 SD. Postoperative success was also compared between patients with and without obesity according to the mean of the two measures made by each evaluator. Results: evaluator 1 had the largest intra-observer difference in radial height (0.16 mm) and the largest proportion outside ± 2 SD in ulnar variance (8.1%); evaluator 2 had the largest difference in volar tilt (1.92o) and the highest proportion in radial inclination (10.7%). The largest inter-observer difference was for ulnar variance (1.02 mm) and the largest proportion outside ± 2 SD. for radial height (5.4%). Radial tilt had the largest difference (1.41o) with 4.5% of measurements outside ± 2 SD. Ulnar variance and volar tilt had the largest difference in postoperative success between evaluators, especially in patients with obesity. Conclusion: improving the radiographic quality and standardizing the measurements results in more reproducible indicators.

[The treatment of primary biliary cirrhosis with ursodeoxycholic acid. The short- and median-term results and their relation to the study of the disease]. / Tratamiento de la cirrosis biliar primaria con ácido ursodesoxicólico. Resultados a corto y medio plazo y relación con el estudio de la enfermedad.

We present the results of the treatment with ursodeoxycholic acid (UDCA, 7-9 mg/kg body weight daily) of 17 patients with primary biliary cirrhosis (8 in stages I-II; 9 in stages III-IV). At two months the mean values of alkaline phosphatase, gammaglutamiltranspeptidase, alanine and aspartate aminotransferase were reduced (p less than 0.001, p less than 0.001, p less than 0.01 and p less than 0.01 respectively). This improvement persisted without increase during the first year. At two months the total bilirubin value was reduced (p less than 0.01) associated with a reduction in the conjugated fraction (p less than 0.05). Cholesterol and gammaglobulin mean values also decreased at two months (p less than 0.05). We found no changes in IgM levels and antimitochondrial antibody titers. The improvement was similar in both groups (early I-II and advanced III-IV stages) and the treatment showed no undesirable effects either in early or advanced stages. Almost all the patients with pruritus (6 out of 7) improved with the treatment and the use of cholestyramine was reduced in all.

[Idiopathic mediastinal fibrosis associated with hypercoagulability: a case report]. / Fibrosis mediastínica idiopática asociada a hipercoagulabilidad. A propósito de un caso.

Mediastinal fibrosis is a rare and unknown disease characterized by the presence of a fibrotic mass in the anterior mediastinum that can invade close structures as gullet, trachea, recurrent nerve, superior cava vein etc. Only 1-2% of patients with mediastinal fibrosis associate superior cava vein obstruction. When it appears, it is produced by extrinsic compression for fibrotic magma in almost all the cases. A case of hypercoagulability disorder associated with mediastinal fibrosis and superior cava vein obstruction by thrombosis (intrinsec mechanism), and the satisfactory evolution after the treatment with oral anticoagulation, corticosteroids and tamoxifen is presented.

[Diffuse T-cell lymphoma of the cervix uteri: an unusual localization of an infrequent tumor]. / Linfoma difuso de células T de cérvix uterino: una localización inusual de un tumor poco frecuente.

Non-Hodgkin lymphomas are frequent tumors. However, extraglandulary forms are very unusual, and the location in the uterine cervix is also extraordinary. A case of an elderly woman with symptoms not related with the tumor, in whom the diagnosis was made from the incidental finding of a distended obstructive bladder is presented. Pelvic mass is one of the forms of presentation of primary malignant lymphomas of the uterine cervix. Diagnosis was made in this case by transvaginal biopsy under general anesthesia. Biopsy showed a diffuse T-cell lymphoma, a very rare finding considering that most of published cases are B-cell type. The importance of distinguishing malignant lymphoma from undifferentiated carcinoma or sarcoma is emphasized since cervical malignant lymphoma can be successfully treated with irradiation.

[Drug information made available to the population via Internet from a Pharmacy Department]. / Información de medicamentos a la población desde el Servicio de Farmacia a través de Internet.

OBJECTIVES: To describe and discuss the work of a Pharmacy Department for the health-care portal www.viatusalud.com. METHODS: Using a web portal, a Pharmacy Department develops and updates a vademecum on drugs, and answers enquiries by end-users. RESULTS: On December 31, 2002 more than 750 records on drugs were available, and 3030 enquiries had been answered. CONCLUSIONS: With this drug information and online enquiry service, our Pharmacy Department helps meet the demand of health-care information posed by the community and by patients previously seen at Clínica Universitaria. In addition, it allows areas of improvement to be detected in the information to be offered to patients fron a Pharmacy Department, and represents a tertiary source of information for health-care professionals.

[Virology, epidemiology and transmission mechanisms of hepatitis B virus]. / Virología, epidemiología y mecanismos de transmisión del VHB.

Illness due to the hepatitis B virus is an enormous problem for international public health, affecting over 300 million persons throughout the world, although its prevalence varies considerably between different geographic areas. The universal vaccination of the newly born, promulgated by the World Health Organisation, has made it possible to partially control the spread of the virus in many countries, including Spain. However, the vaccine does not generate protective antibodies in approximately 5% of the population. Besides, infection by the hepatitis B virus can produce few symptoms and the virus is easily transmitted, making its epidemiological control difficult. On the other hand, the growing flow of bi-directional migration of persons between geographical areas with a moderate or high prevalence and Spain also seems to be contributing to the persistence of the disease in our milieu. All of this makes it compulsory to deploy an ensemble of preventive measures based on an increasingly deep understanding of the biological cycle of the virus. In Spain, as in other regions with a low prevalence, the hepatitis B virus infection is considered chiefly to be a disease of sexual transmission, or else contagion takes place between patients who are users of intravenous drugs. On the other hand, blood transmission is of scarce importance in our milieu. Following exposure to the hepatitis B virus, prophylaxis with immunoglobins and also the administration of the vaccine is highly effective, and acquires special interest for all healthcare workers.