Structural brain differences between ultra-endurance athletes and sedentary persons.

Participation in ultra-endurance events has increased in recent years and requires extreme levels of moderate to vigorous physical activity (MVPA). Moderate levels of MVPA have been associated with increased brain volume but the effects of extreme levels of MVPA on brain volume is unknown. As a result, we sought to compare the brains of those who engage in extremely high levels of MVPA with those who are sedentary using magnetic resonance imaging. We performed whole brain volumetric analyses and voxel-based morphometry on 12 ultra-endurance athletes (1078.75 ±â€¯407.86 min of MVPA/week) and 9 sedentary persons (18.0 ±â€¯56.9 min of MVPA/week). Whole-brain analyses revealed that those who participate in ultra-endurance training have increased grey (p< 0.0001), white (p = 0.031), and total matter volume (p < 0.0001), while regional analyses revealed that ultra-endurance athletes have smaller regional grey matter volume in the right primary sensory and motor cortex, inferior and middle frontal gyrus, and left thalamus. Future research is warranted to determine why ultra-endurance athletes have lower regional volumes in these areas despite having overall increased grey and white matter volumes.

[Influence of nutrition, common autoimmune diseases and smoking on the incidence of foot mycoses]. / Einfluss von Ernährung, autoimmunen Volkskrankheiten und Rauchen auf die Erkrankungshäufigkeit von Fußmykosen.

BACKGROUND: Foot mycoses, including onychomycoses, are worldwide infectious diseases. As part of a regional survey using randomly selected residents of in Mecklenburg-Western Pomerania, we investigated the impact of dietary habits, the presence of most frequent autoimmune diseases and current smoking on fungal skin infections in order to reveal potential new risk factors to elucidate potential preventive interventions. OBJECTIVES: The identification of potential new factors that influence the development of mycosis was performed in order to derive possible preventive measures. METHODS: In the Study of Health in Pomerania (SHIP) in Mecklengburg-Western Pomerania, 2523 inhabitants were examined for mycotic lesions and asked about nutritional habits, the presence of atopic dermatitis, allergic rhinitis, psoriasis and smoking habits. RESULTS: In all, 8% of probands were diagnosed with mycosis, 6.5% onychomycosis, 3.7% tinea pedis and 0.2% tinea corporis. Psoriasis, allergic rhinitis and atopic dermatitis and frequent consumption of cooked potatoes, oatmeal and corn flakes, cereals, pasta and rice were significantly associated with tinea pedis. Onychomycosis was positively associated with consumption of cooked potatoes. Cigarette consumption proved protective for tinea pedis and dermatophyte colonization. CONCLUSIONS: The autoimmune disorders psoriasis and atopic dermatitis and allergic rhinitis seem to predispose to foot mycosis. Recalcitrant mycosis should raise the question of diets high in carbohydrates. Nicotine abuse seems to protect against skin mycosis and colonization.

[Rett Syndrome: MECP2 gene molecular analysis in Chilean patients]. / Síndrome de Rett: Análisis molecular del gen MECP2 en pacientes chilenas.

INTRODUCTION: Rett syndrome (RTT) is a progressive neurological disorder characterized by regres sion of psychomotor development in previously healthy girls. Most cases are due to pathogenic va riants in the MECP2 gene which encodes for the methyl CpG-binding protein 2. OBJECTIVE: To des cribe the frequency and type of pathogenic variants in the MECP2 gene in Chilean female patients with clinical diagnosis of RTT. PATIENTS AND METHOD: Chilean women with clinical suspicion of RTT were invited to participate in the study. Clinical data were collected through a questionnaire. MECP2 pathogenic variants were analyzed by Sanger sequencing method and Multiplex Ligation-dependent Probe Amplification (MLPA) was used to detect duplications or deletions. RESULTS: The study in cluded 14 patients with suspected RTT, of which eight (57%) patients had pathogenic variants. The other patients remain without molecular diagnosis. CONCLUSIONS: Pathogenic variants in MECP2 are present in Chilean patients with RTT. It is likely that there are other genes or diagnoses involved in patients without MECP2 findings. As of this study, molecular diagnosis is available in Chile.

Síndrome de Rett: Análisis molecular del gen MECP2 en pacientes chilenas / Rett syndrome: MECP2 gene molecular analysis in Chilean patients

INTRODUCCIÓN: El síndrome de Rett (RTT) es un trastorno neurológico progresivo caracterizado por producir una regresión del desarrollo psicomotor en niñas previamente sanas. La mayoría de los casos son causados por variantes patogénicas en el gen MECP2, que codifica para la proteína methyl CpG- binding protein 2. OBJETIVO: Describir la frecuencia y el tipo de variantes patogénicas en MECP2 en mujeres chilenas con diagnóstico clínico de RTT. PACIENTES Y MÉTODO: Se invitó a participar en este estudio a mujeres chilenas con sospecha clínica de RTT. Se reunió información clínica mediante un cuestionario. Se analizaron variantes patogénicas en MECP2 mediante el método de secuenciación de Sanger y se utilizó Multiple Ligation-dependant Probe Amplification (MLPA) para la detección de duplicaciones y deleciones. RESULTADO: El estudio incluyó 14 pacientes con sospecha de RTT, de las cuales 8 (57%) pacientes tuvieron variantes patogénicas. Las restantes permanecen sin diagnóstico molecular. CONCLUSIÓN: Variantes patogénicas en MECP2 están presentes en pacientes chilenas con RTT. Es probable que haya otros genes o diagnósticos involucrados en las pacientes sin hallazgos en MECP2. A partir de este trabajo, el diagnóstico molecular está disponible en Chile.

INTRODUCTION: Rett syndrome (RTT) is a progressive neurological disorder characterized by regres sion of psychomotor development in previously healthy girls. Most cases are due to pathogenic va riants in the MECP2 gene which encodes for the methyl CpG-binding protein 2. OBJECTIVE: To des cribe the frequency and type of pathogenic variants in the MECP2 gene in Chilean female patients with clinical diagnosis of RTT. PATIENTS AND METHOD: Chilean women with clinical suspicion of RTT were invited to participate in the study. Clinical data were collected through a questionnaire. MECP2 pathogenic variants were analyzed by Sanger sequencing method and Multiplex Ligation-dependent Probe Amplification (MLPA) was used to detect duplications or deletions. RESULTS: The study in cluded 14 patients with suspected RTT, of which eight (57%) patients had pathogenic variants. The other patients remain without molecular diagnosis. CONCLUSIONS: Pathogenic variants in MECP2 are present in Chilean patients with RTT. It is likely that there are other genes or diagnoses involved in patients without MECP2 findings. As of this study, molecular diagnosis is available in Chile.

The relationship between functional status, physical fitness and cognitive performance in physically active older adults: A pilot study.

OBJECTIVE: Ageing is associated with a progressive decline in physical function and cognitive performance which could result in a shift from an independent to a more dependent lifestyle. The aim of this research study was to assess the fitness, functional performance and cognitive ability in independently living older South Africans and to determine which fitness parameters and functional performance tests best explain the variance in cognitive function. DESIGN: Descriptive observational study. PARTICIPANTS: Older adults with a mean age 71±4.7 years (n = 70; 28 men and 42 women) were recruited. Sixty percent of the sample completed at least secondary schooling and more than two-thirds were taking medication for a chronic medical condition. MEASUREMENTS: Self-reported physical activity was assessed using the Yale Physical Activity Survey. Fitness tests included the 6-minute walk test and Bicep Curls. The functional performance tests were; Static and Dynamic balance, Timed Up and Go, Sit to Stand, Grip strength and Functional Reach. The Stroop Task and 6-Item cognitive impairment test were used to measure cognitive performance. Bivariate and multivariate analyses were conducted between performance on the novel cognitive Stroop Task and functional and cognitive tests. RESULTS: We found significant relationships between the number of correct responses on the Stroop Task and scores on the 6-Item Cognitive Impairment test (-0.520, p < 0.01) and grip strength (r = 0.42, p< 0.01). The number of incorrect responses was inversely associated with functional reach (r = -0.445, p< 0.01). The final regression model included: age, dynamic balance, right arm grip strength and the score on the 6-item cognitive impairment test, and explained 44% of the variance in performance of the Stroop Task. CONCLUSIONS: The results of this study showed that measures of physical function were associated with cognitive performance even in highly functioning older South African adults. Further research is needed to determine the extent to which exercise training can improve functional capacity and the effect on cognitive performance.

Quantitative determination of steroid hormone receptor positive cells in the synovium of patients with rheumatoid arthritis and osteoarthritis: is there a link to inflammation?

BACKGROUND: Steroid hormone receptors such as glucocorticoid receptors, androgen receptors, and oestrogen receptors alpha (ERalpha) and beta (ERbeta) have been identified in synovial cells of patients with rheumatoid arthritis and osteoarthritis. OBJECTIVES: To find a quantitative relationship between the number of receptor positive cells and markers of inflammation, and to compare the two groups of patients with rheumatoid arthritis and osteoarthritis. METHODS: A total of 36 patients with rheumatoid arthritis (n = 17) and osteoarthritis (n = 19) were included, and receptor positive cells and cellular markers of synovial inflammation were quantified by immunohistochemistry and ELISA (interleukin 6 (IL6) and IL8). RESULTS: Patients with rheumatoid arthritis showed a higher degree of histologically determined inflammation compared with those with osteoarthritis. However, synovial density of gluco-corticoid receptor positive (GR+), androgen receptor positive (AR+), ERalpha+ and ERbeta+ cells were not different among patients with rheumatoid arthritis and osteoarthritis. In patients with osteoarthritis, the density of GR+ cells positively correlated with the density of AR+, ERalpha+ and ERbeta+ cells (p = 0.007), which was not observed in patients with rheumatoid arthritis. This indicates positively coupled steroid hormone receptor expression in patients with osteoarthritis but not in those with rheumatoid arthritis. In patients with rheumatoid arthritis, secretion of synovial IL6 and IL8 positively correlated with the density of ERalpha+ and ERbeta+ cells (not with gluco-corticoid receptor and androgen receptor), which was not found in the synovium of patients with osteoarthritis. This indicates that inflammatory factors might up regulate the expression of oestrogen receptors in patients with rheumatoid arthritis, or vice versa. CONCLUSIONS: In patients with osteoarthritis, expression of different steroid receptors is positively coupled, which was not observed in the synovium of patients with rheumatoid arthritis. This uncoupling phenomenon in rheumatoid arthritis might lead to an imbalance of the normal synovial homeostasis.

[Sensitivity to constituents of bone cement in a patient with joint prosthesis]. / Prothesenunverträglichkeit bei Typ-IV-Sensibilisierung gegen Knochenzement.

Failure to tolerate prosthetic material can lead to a variety of clinical findings. A 55-year-old woman had a total replacement of the right knee. Two weeks later she developed pruritic skin lesions over the joint, as well as pain and impaired function. Allergic testing showed clinically relevant Type IV sensitization to methylmethacrylate, as well as to various formulations of the bone cement, including one with an added antibiotic. The symptom complex of pruritic skin lesions in the area of the prosthesis, pain and disability, as well as relevant Type IV sensitization justified replacing the prosthesis.

[Aesthetic dermatology. Botulinumtoxin A and soft tissue augmentation]. / Asthetische Dermatologie. Botulinumtoxin A und Implantatmaterialien.

Younger and younger patients are undergoing aesthetic procedures to achieve "wrinkle-free" aging. This has had great impact on the field of aesthetic dermatology. The rapid development of new indications and filler materials requires a critical approach to the available substances particularly concerning side effects and long-term effects. The quality of the chosen approach depends on the applied filler substance, clear indication the compliance of the patient and the experience of the physician. The growing expectations of patients require a critical analysis of the available therapy options. Botulinum toxin A is one of the preferred treatments for wrinkles secondary to facial expression. In addition there are a variety of biologically inert and completely resorbable filler materials such as collagen and hyaluronic acid and autologous materials such as fat implants or plasma gel available. This article gives an overview about the most common fillers and their use in aesthetic dermatology.

Cowden's disease: clinical and molecular genetic findings in a patient with a novel PTEN germline mutation.

We report a 54-year-old woman with Cowden's disease (CD) who was found to carry a novel germline mutation in the PTEN gene. The mutation (c.334C-->G) introduced a splice donor site within exon 5 that caused the expression of an aberrant transcript lacking 159 nucleotides corresponding to codons 112-164. Clinically, the patient showed multiple benign hamartomatous lesions of the skin, papillomatosis of the lips and oral mucosa, polyposis coli and bilateral fibrocystic disease of the breast. In addition, she developed different types of malignant neoplasms, including bilateral carcinomas of the breast and malignant melanomas of the skin. Molecular genetic analysis of a benign skin hamartoma and an invasive ductal breast carcinoma revealed loss of heterozygosity (LOH) at microsatellite markers on chromosome 10 in the carcinoma but not in the hamartoma. The breast carcinoma additionally carried a somatic TP53 point mutation (c.466C-->G; R156G) that was associated with LOH on 17p and nuclear p53 protein accumulation. Taken together, our findings indicate that benign hamartomas in CD may develop without loss of the second (wild-type) PTEN allele, whereas the pathogenesis of malignant tumours, such as breast carcinomas, appears to require the complete inactivation of Pten as well as further alterations such as the loss of p53-dependent growth control.

High sensitivity PCR assay in plastic micro reactors.

Small volume operation and rapid thermal cycling have been subjects of numerous reports in micro reactor chip development. Sensitivity aspects of the micro PCR reactor have not been studied in detail, however, despite the fact that detection of rare targets or trace genomic material from clinical and/or environmental samples has been a great challenge for microfluidic devices. In this study, a serpentine shaped thin (0.75 mm) polycarbonate plastic PCR micro reactor was designed, constructed, and tested for not only its rapid operation and efficiency, but also its detection sensitivity and specificity, in amplification of Escherichia coli (E. coli) K12-specific gene fragment. At a template concentration as low as 10 E. coli cells (equivalent to 50 fg genomic DNA), a K12-specific gene product (221 bp) was adequately amplified with a total of 30 cycles in 30 min. Sensitivity of the PCR micro reactor was demonstrated with its ability to amplify K12-specific gene from 10 cells in the presence of 2% blood. Specificity of the polycarbonate PCR micro reactor was also proven through multiplex PCR and/or amplification of different pathogen-specific genes. This is, to our knowledge, the first systematic study of assay sensitivity and specificity performed in plastic, disposable micro PCR devices.

Botulinum toxin A in the therapy of mimic facial lines.

In aesthetic medicine, many different methods of skin rejuvenation are available. At the end of the 1980s, the neurotoxin Botulinum toxin A (BT-A) led to a revolution in aesthetic-corrective dermatology for the treatment of mimic facial wrinkles. The toxin is produced by Clostridium botulinum and causes a reversible, selective muscle relaxation that leads to a temporary flattening of the mechanical part of wrinkling without the stigmata of invasive surgery. After two decades of experience in different medical disciplines, there has been remarkable clinical development and progress in research, the identification of new botulinum toxin serotypes, and also innovation in indications and combined modalities. These lead to new and interesting questions. BT-A offers the experienced, critical dermatologist a time-saving, effective, cosmetically satisfactory, non-invasive treatment for mimic facial wrinkles and neck and decollete lines, with only minor side effects. Dermatologists should have a profound anatomical knowledge and should be able to perform all injection techniques to meet the needs of ever more demanding patients and to ensure optimization of patient satisfaction. The following review summarizes the historical development and the mechanism of action of both frequently and rarely used injection techniques with BT-A for the treatment of wrinkles and lines of the upper face, neck and décolleté, and gives an update of different experiences encountered.

The poet syndrome: opiates, psychosis and creativity.

For some people, heroin is a self-medicating tool used to control innate psychic sensitivity. The habitual use of heroin provides the sensitive addict with a definition of consciousness by containment, psychic buffering, and psychic marking. This article is an examination of the political and social history of opiates, opiates as antipsychotics, "drug of choice" as a determinant of self-medication, and the connection between creativity, spirituality, psychosis and addiction. Using clinical observation, the article explores the poet syndrome hypothesis and offers direction for an alternative drug treatment paradigm.

Fuel utilisation during prolonged low-to-moderate intensity exercise when ingesting water or carbohydrate.

Previously, we examined the effects of carbohydrate (CHO) ingestion on glucose kinetics during exercise at 70% of maximum O2 uptake (VO2, max). Here we repeat those studies in heavier cyclists (n = 6 per group) cycling for 3 h at a similar absolute O2 uptake but at a lower (55% of VO2, max) relative exercise intensity. During exercise, the cyclists were infused with a 2-3H-glucose tracer and ingested U-14C glucose-labelled solutions of either flavoured water (H2O) or 10 g/100 ml glucose polymer, at a rate of 600 ml/h. Two subjects in the H2O trial fatigued after 2.5 h of exercise. Their rates of glucose appearance (Ra) declined from 2.9 +/- 0.6 to 2.0 +/- 0.1 mmol/min (mean +/- SEM) and, as their plasma glucose concentration [Glu] declined from 4.7 +/- 0.2 to below 3.5 +/- 0.2 mM, their rates of glucose oxidation (Rox) and fat oxidation plateaued at 2.7 +/- 0.4 and 1.7 +/- 0.1 mmol/min respectively. In contrast, all subjects completed the CHO trial. Although CHO ingestion during exercise reduced the final endogenous Ra from 3.4 +/- 0.6 to 0.9 +/- 0.3 mmol/min at the end of exercise, it increased total Ra to 5.5 +/- 0.5 mmol/min (P < 0.05). A higher total Ra with CHO ingestion raised [Glu] from 4.3 +/- 0.3 to 5.3 +/- 0.1 mM and accelerated Rox from 3.5 +/- 0.2 to 5.9 +/- 0.2 mmol/min after 180 min of exercise (P < 0.05). The increased contribution to total energy production from glucose oxidation (34 +/- 1 vs. 20 +/- 1%) decreased energy production from fat oxidation from 51 +/- 2 to 40 +/- 5% (P = 0.08) and produced patterns of glucose, muscle glycogen (plus lactate) and fat utilisation similar to those during exercise at 70% of (V˙O2, max). Thus, CHO ingestion is necessary to sustain even prolonged, low to moderate intensity exercise and when ingested, it suppresses the higher relative rates of fat oxidation usually observed at exercise intensities less than 60% of VO2, max.

The effects of carbohydrate loading on muscle glycogen content and cycling performance.

This study compared the effects of supplementing the normal diets of 8 endurance-trained cyclists with additional carbohydrate (CHO), in the form of potato starch, for 3 days on muscle glycogen utilization and performance during a 3-hr cycle ride. On two occasions prior to the trial, the subjects ingested in random order either their normal CHO intake of 6.15 +/- 0.23 g/kg body mass/day or a high-CHO diet of 10.52 +/- 0.57 g/kg body mass/day. The trial consisted of 2 hr of cycling at approximately 75% of VO2peak with five 60-s sprints at 100% VO2peak at 20-min intervals, followed by a 60-min performance ride. Increasing CHO intake by 72 +/- 9% for 3 days prior to the trial elevated preexercise muscle glycogen contents, improved power output, and extended the distance covered in 1 hr. Muscle glycogen contents were similar at the end of the 3-hr trial, indicating a greater utilization of glycogen when subjects were CHO loaded, which may have been responsible for their improved cycling performance.

Consequences of queuing for care at a public hospital emergency department.

OBJECTIVE: To determine whether the length of a queue at a public hospital emergency department was associated with increased likelihood of patients' leaving without being seen by a physician and whether leaving adversely affected patients' health or affected their subsequent use of health care services. DESIGN: Observational cohort. Patients were surveyed during 1 week in July 1990 and received a follow-up survey 7 to 14 days later. The responses of patients who left without being seen by a physician were compared with those who were seen by a physician. SETTING: Emergency department at San Francisco (Calif) General Hospital. PATIENTS: All English-, Spanish-, and Cantonese-speaking adults waiting for emergency care were eligible. Of 882 eligible individuals, 700 agreed to participate; 85% of enrolled subjects saw a physician and 15% left without being seen. Demographic characteristics of patients who were and who were not seen were not significantly different. MAIN OUTCOME MEASURES: Emergency department waiting time and changes in patients' self-reported health. RESULTS: Patients were more likely to leave as waiting times increased. At follow-up, patients who left without being seen were twice as likely as those who were seen to report that their pain or the seriousness of their problem was worse. Only 4% of patients who left required subsequent hospitalization, but 27% returned to an emergency department. CONCLUSION: Many patients can appropriately decide whether their problem is truly urgent and make alternative plans in the face of long waits, but the health of some patients may be jeopardized by long queues for emergency care.