Noninvasive prenatal testing: benefits and limitations of the available tests.

BACKGROUND: The „gold standard“ for prenatal diagnosis of aneuploidies is provided by the karyotype, which has high accuracy, but is dependent on invasive procedures, which generate risk of fetal loss. Different methodologies of development of noninvasive prenatal genetic tests (NIPT) for tracking aneuploidies, including sex chromosomes, have been made available for clinical use, for some microdeletions and triploids and for exclusion of paternity. These exams make use of three methodological tools: s-MPS, t-MPS and SNP. Genetic tests, despite the high cost, cover a broader range of clinical applications, have the advantage that can be performed early, with high accuracy, and low false positive rate. Type of article: Review. SETTING: Department of Obstetrics and Gynecology, Science College of Santa Casa of São Paulo (FSMSCSP), São Paulo-SP, Brazil. DESIGN AND METHODS: This study was a non-asystematic review, which searched PubMed / MEDLINE as a research source and aimed at the compilation of data, which allowed approaching the evolution, the technical and methodological advances of the available tests, the recognition of its benefits, limitations and future perspectives on NIPT. CONCLUSION: NIPT stand out for being applied earlier during the pregnancy with high accuracy and low false-positive rates, including a broad spectrum of clinical applications. The t-MPS is a recent technique used to evaluate aneuploidy that shows greater accuracy and lower cost than the s-MPS, but that is limited to being applied only to the most common aneuploidies. The SNP technique can search for more genetic conditions, besides presenting better accuracy.

Automated gesture tracking in head-fixed mice.

BACKGROUND: The preparation consisting of a head-fixed mouse on a spherical or cylindrical treadmill offers unique advantages in a variety of experimental contexts. Head fixation provides the mechanical stability necessary for optical and electrophysiological recordings and stimulation. Additionally, it can be combined with virtual environments such as T-mazes, enabling these types of recording during diverse behaviors. NEW METHOD: In this paper we present a low-cost, easy-to-build acquisition system, along with scalable computational methods to quantitatively measure behavior (locomotion and paws, whiskers, and tail motion patterns) in head-fixed mice locomoting on cylindrical or spherical treadmills. EXISTING METHODS: Several custom supervised and unsupervised methods have been developed for measuring behavior in mice. However, to date there is no low-cost, turn-key, general-purpose, and scalable system for acquiring and quantifying behavior in mice. RESULTS: We benchmark our algorithms against ground truth data generated either by manual labeling or by simpler methods of feature extraction. We demonstrate that our algorithms achieve good performance, both in supervised and unsupervised settings. CONCLUSIONS: We present a low-cost suite of tools for behavioral quantification, which serve as valuable complements to recording and stimulation technologies being developed for the head-fixed mouse preparation.

Uso del plasma rico en plaquetas en el tratamiento de la osteonecrosis avascular en pacientes con administración de bifosfonato: presentación de un caso / Use of PRP in the treatment of patients with avascular osteonecrosis bisphosphonate administation. Case report.

El vasto uso en la actualidad que se hace de los bisfosfonatos para tratar la osteoporosis y tumores malignos con metástasis ósea presenta un daño colateral, como lo es la osteonecrosis avascular, ya que estas drogas actúan sobre los osteoclastos y la reabsorción ósea. Esta condición patológica presenta un mal pronóstico y una incidencia creciente, donde el tratamiento se hace cada vez más difícil sobre todo en aquellos pacientes que presentan tumores de mama metastáticos. De manera que estas drogas deben ser usadas con precaución, especialmente en los casos preventivos y conocer sobre las medidas de cuidado recomendadas. Se presentará un caso tratado con resección marginal mandibular y colocación de PRP para que contribuya a una pronta regeneración y mejorar la calidad de vida del paciente disminuyendo el dolor

Extensively used at present is that of bisphosphonates to treat osteoporosis and malignant tumors with bone metastasis has a collateral damage, such as avascular osteonecrosis, because these drugs act on osteoclasts and bone resorption. This pathological condition has a poor prognosis and an increasing incidence, where treatment is becoming increasingly difficult especially in patients who have metastatic breast tumors. So that these drugs should be used with caution, especially in the cases and learn about preventive measures recommended care. There will be a case treated with recession and marginal mandibular placement PRP to contribute to an early regeneration and improve the quality of life by decreasing the pain

Study of wool characteristics in the aranese ovine breed / Estudio de las características de la lana en la raza ovina aranesa

To date, no ethnological study on the wool characteristics of the Spanish Aranese ovine breed has been published. Fifty three animals belonging to this breed are tested as fleece samples. Each sample is analyzed for fleece type and length, yield by isoalcohol scouring, fiber length for each kind of fiber, variation in fiber diameter, and proportions of non-medullated and medullated or kemp fibers. Fiber length appears shorter than that previously reported for the breed by other authors. Fleeces of the Aranese sheep breed can be described as square, simple, "semi-open" and short with a relatively high yield by isoalcohol scouring and low medullation levels, thus indicating good potential quality and greater suitability for potential processing than other similar meat breeds.

Hasta el momento, ningún estudio etnológico sobre las características de la lana de la variedad española ovina Aranesa ha sido publicado. Cincuenta y tres animales de esta raza han sido analizados a partir de muestras de su vellón. Cada muestra se analizó para el tipo de vellón y longitud, su rendimiento mediante isoalcohol desgrasado, longitud de las fibras para cada tipo de fibra, variación en el diámetro de la fibra, y las proporciones de fibras no meduladas y meduladas o fibras kemp. La longitud de las fibras parece más corta que la reportada para esta raza por otros autores. El vellón de la raza ovina Aranesa se puede describir como cuadrado, simple, "semi-abierto" y corto, con un rendimiento relativamente alto por desengrasado mediante isoalcohol y bajos niveles de medulación, lo que indica la buena calidad potencial y mayor oportunidad para el procesamiento potencial que otras razas similares de carne.

Mania following deep brain stimulation for Parkinson's disease.

Three patients with PD developed manic behavior after bilateral implantation of electrodes for deep-brain stimulation (DBS). Common to all three patients were manic symptoms unremitting after levodopa reduction or stimulation "off," lower electrodes positioning caudal to the subthalamic nucleus area, postoperative DBS with the lower contacts (0) of the quadripolar electrodes, and resolution of the manic episodes coinciding with stimulation through higher contacts.

Tumor de Brenner / Brenner tumor

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Estimulación de cordones posteriores como tratamiento del dolor crónico / Stimulation of posterior spiral cords as treatment of chronic pain

La neuroestimulación comenzó su desarrollo moderno con la publicación de Melzack y Wal, de su teoría sobre la puerta entrada en el control del dolor (1,2). en 1965 Sweet y Wepsic implantaron los primeros electrodos en los nervios periféricos como tratamiento del dolor

[The tethered cord syndrome : a review of causes]. / El síndrome de médula anclada: revisión casuística.

We present eighteen cases with Tethered cord syndrome (TCS). They were eleven adults and eight children. There were eight cases with surgical interventions performed in other centers during the newborn period for different types of spinal disraphisms. Clinical onset was insidious in 88% of the cases, and in 12% of the cases was acute, due to a precipitating factor. The main clinical findings were neurological skeletal , urological and cutaneous alterations in variable frequencies. Magnetic resonance imaging (MRI) was the best diagnostic test. Urodynamic studies in patients with urological alterations were abnormal and they helped to establish additional pharmacological treatment. After surgery 88% of the patients had an improvement or an arrest in the progression of the symptoms. Patients with shorter duration of the symptoms (less than 2 years) had a better prognosis.

[Mediterranean spotted fever in childhood. Prospective study of 130 cases]. / Fiebre botonosa mediterránea en la infancia. Estudio prospectivo de 130 casos.

Authors present a prospective study of 130 cases of Mediterranean spotted fever treated between 1983 and 1985 in two Departments of Paediatrics of the Valles Occidental, area near Barcelona. Thirty-eight percent of the children came from suburban areas, an urban areas, an urban or rural origin being less frequent. Previous contacts with dogs existed in 86% of the cases. Most frequent clinical signs were fever (100%) maculo-papular rash (97%) and arthromyalgias (70%). The "tache noire" was found in 87% of the cases. Presence of arthritis in two patients is underlined. Indirect immunofluorescence to Rickettsia conorii was positive (much greater than 1/40) in 75% of the cases. All patients improved after treatment with tetracycline or erythromycin. There were no relapse.

Erythromycin versus tetracycline for treatment of Mediterranean spotted fever.

Eighty one children aged between 1 and 13 years participated in a randomised comparative trial of tetracycline hydrochloride and erythromycin stearate for treatment of Mediterranean spotted fever. Both therapeutic regimens proved effective, but in patients treated with tetracycline both clinical symptoms and fever disappeared significantly more quickly. Likewise, when those patients who began treatment within the first 72 hours of illness are considered the febrile period had a significantly shorter duration in the group treated with tetracycline. One patient was switched to tetracycline because there was no improvement of clinical manifestations, with persistence of fever, myalgias, and prostration, after receiving eight days of treatment with erythromycin. These results suggest that tetracyclines are superior to erythromycin in the treatment of Mediterranean spotted fever.

[Chronic juvenile arthritis as a form of presentation of hypogammaglobulinemia]. / Artritis crónica juvenil, como forma de presentación de hipogammaglobulinemia.

A seven years old boy with an hypogammaglobulinemia associated to a pauciarticular chronical juvenile arthritis, in which immunitary deficit diagnostic was made investigating his articular disease, is presented. Clinic, immunological screening, therapy and ulterior evolution with a two year substitutive immunoglobulin treatment are discussed. Authors also revise some aspects of these two diseases association.

[Roentgenologic characteristics of Gaucher's disease (author's transl)]. / Aspectos radiológicos de la enfermedad de Gaucher.

Gaucher's disease is a rare metabolic disorder in which there is an abnormal accumulation of cerebrosides in the reticuloendothelial system due to a deficit of beta-glucuronidase. Three patients with this disease, 8, 14, and 23 years old, were studied. The purpose of this paper is to point out some of the roentgenologic findings, such as areas of femoral osteolysis, renal venous thrombosis, and in one patient, sclerosis of the sacroiliac joint. Splenomegaly and alteration of the tubular bony structure of the distal end of the femur were present in all three cases. The roentgenologic images of the disease are discussed. The osteoarticular system is the most often affected. Osteolysis is the basic lesion with expansion of the bone marrow and sclerosis. The earliest symptom and sometimes the only one is the Erlenmeyer flask deformity or widening of the distal portion of the femur. Sometimes there is a high degree of deossification without definite osteolytic lesions. Pathologic fractures and fractures caused by pressure of the vertebral bodies are common. Aseptic femoral necrosis are often present. Other less frequent sites of osteoarticular pathology are the skull, jaws, ribs, and sacroiliac joints. Splenomegaly is the most frequent visceral lesion. Other organs sometimes affected are the liver, kidneys, heart, lymphatic system, and lungs, with nodular or basal reticular infiltrations.