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Marinesco-Sjögren syndrome: clinical and magnetic resonance imaging features in three children.

The authors describe clinical and MRI features of a girl and two boys, aged 9, 17 and 19 years, respectively, with Marinesco-Sjögren syndrome. The clinical findings included the major features of the syndrome, including growth deficiency, ataxia, cataracts, hypogonadism (in two) and seizures (in two). Truncal hypotonia (in three), microcephaly (in two) and leg spasticity (in two) were also present. MRI showed a very small cerebellar vermis in all three patients, various supratentorial abnormalities, an apparently small anterior pituitary gland in two and the absence of a posterior pituitary gland in all three. The MRI features are similar to the few reported pathologic findings for persons with Marinesco-Sjögren syndrome. MRI may be helpful in the early diagnosis of the disorder.

Adolescent↗

Leuko-araiosis.

Leuko-araiosis is an unspecific radiologic sign, seen with CT scan or with MRI. It can be found as well in normal elderly persons as in pathological conditions. For the sake of clarity, CT scan and MRI images have to be distinguished. CT leuko-araiosis is linked with vascular risk factors and with age. The situation is more complex for MRI leuko-araiosis (likely on account of the higher sensitivity of MRI). Some images (caps and rims), frequently seen in normal, even young, individuals, are more frequent in aging. On the contrary, abnormal images at a distance from the ventricle are more difficult to interpret. Some of them are due to pathological well defined conditions (small infarcts, Binswanger's disease, cysts, plaques). Others may be secondary to remote pathologies (such as infarcts). Others are due to little specific conditions, such as perivascular dilatations ('état criblé' due to brain vasogenic edema, or to brain atrophy whatever its cause, and more frequently seen in the elderly). Other changes, such as incomplete infarction or myelin pallor with gliosis, have been described. At last, in some cases, no clearcut pathological lesion could be found. Leuko-araiosis may be present in primary degenerative dementia of the Alzheimer type, but it is neither necessary nor sufficient to establish the diagnosis of Alzheimer's disease, and it does not seem more frequent than in elderly controls. The mechanism of leuko-araiosis in Alzheimer's disease is likely multifactorial (for example, cerebral atrophy, amyloid angiopathy, associated hypertensive arteriolosclerosis could be involved). The relationship between leuko-araiosis, myelin pallor and white matter atrophy is poorly understood, and remains to be studied.

Adult↗

The trouble with psychopathy as a general theory of crime.

The concept of psychopathy, as defined by Robert Hare, is reviewed with respect to its status as a general theory of crime. A hybrid of the medical pathology model and personality trait approach, the psychopathy concept proposes that a significant portion of serious crime is committed by psychopathic individuals. Hare's version of psychopathy, besides demonstrating weak applicability and a propensity for tautology, is subject to labeling effects, oversimplicity, reductionism, the fundamental attributional error, inattention to context, and disregard for the dynamic nature of human behavior. It is concluded that the psychopathy concept is substantially limited with respect to its ability to describe and clarify general criminal behavior but that it may still have value as a partial explanation for certain types of non-criminal predatory behavior.

Antisocial Personality Disorder↗

Effects of exercise on muscle strength and characteristics in rheumatic diseases and sarcopenia: Protocol for the Care for Muscle (C4M) Study.

OBJECTIVE: Muscle weakness is prevalent in rheumatoid arthritis (RA), osteoarthritis (OA) and sarcopenia (SARC). Endurance exercises may improve mitochondrial function and oxidative capacity, while strength exercises are thought to stimulate myofibrillar protein synthesis. This study aims to compare the effects of strength and endurance exercise and explore the association between muscle characteristics and exercise outcomes in patients with RA, OA and SARC. We hypothesize that responses to endurance and strength exercises in patients with muscle weakness are influenced by intramuscular pathology including muscle morphology, mitochondrial function, and systemic inflammation, based on their disease pathology, potentially requiring personalized training schedules. METHODS: This two-arm, parallel-group exploratory trial will enroll 69 patients (23 RA, 23 OA, 23 SARC), randomized to endurance (n = 35) or muscle strength exercises (n = 34), using minimization to balance disease type and gender. The 8-week intervention includes two supervised sessions per week using a controlled cable pulley device (Reforter™) and fitness equipment, plus one weekly home-based session. The primary outcome is isokinetic muscle strength (peak torque), measured with the Biodex system®. Secondary outcomes include muscle morphology, mitochondrial function, systemic inflammation and muscle endurance (by Biodex and 6 Minute Walk test). Muscle morphology will be assessed via 3D ultrasound imaging of the vastus lateralis. Mitochondrial function will be analyzed using high-resolution respirometry on muscle biopsies. Systemic inflammation will be measured using multiplex assays or ELISA on serum samples. DISCUSSION: This study will explore differential responses to muscle endurance and muscle strength exercises in patients with RA, OA, and SARC, offering novel insights into the molecular mechanisms of muscle weakness. The findings may help identify potential mechanisms underlying variability in exercise response and provide effect size estimates to guide future confirmatory studies and more targeted exercise interventions. TRIAL REGISTRATION: ClinicalTrials.gov NCT06480643 (date of registration28-06-24).

Humans↗

Neurophysiologic mechanisms of attention: a selective review of early information processing in schizophrenics.

Attention is an integral component of information processing. A pronounced attention deficit exists among people with schizophrenia and their first-degree relatives as compared to persons without this pathology. Schizophrenics demonstrate marked deficiencies on psychophysical tasks that require temporal and / or spatial integration, properties that are associated with the two primary visual pathways composed of magnocellular (M) and parvocellular (P) cells, respectively. The deficit expresses itself as a dysfunctional information processing system that affects higher order processes, for example, perceptual ability and memory. The focus of this review is to integrate results from several divergent areas of research to include those studies that identify the contributions of the M and P pathways associated with information processing and the attention deficit. The diverse approaches reviewed in this chapter converge to provide a neurophysiologic explanation of the attention deficit in schizophrenia.

Attention↗

[Time factors factors in radiotherapy. Introduction (author's transl)].

The role of time factors, the fractioning and spread of irradiation, continue to occupy an important place in conference, symposia and meeting of radiotherapists and our own Society has followed this tradition by devoting to the subject this session of the Journées de Radiologie 1975. The problem is a constant feature of everyday clinical practise. Whilst the majority of radiotherapists are prudently attached to the traditional method of 5 sessions per week, they are frequently forced to change this rhythm for pathological reasons, the personal convenience of the patient or problems with apparatus. The association of transcutaneous and curietherapeutic irradiation adds new parameters : the rate of the curie-therapy, the relative contribution of the 2 methods of irradiation, their sequence and the interval which separates them. Poor results of radiotherapy in certain situations indicates the possible value of determining whether other methods of the distribution per session and in time might lead to an improvement. Under these numerous circumstances, one is led to compare different forms of irradiation and to assess their possible biological differences. Objective description of the type of irradiation may be limited to the contents of the treatment sheet. However this does not easily express the biological quantity of the irradiation. As soon as the differences between two types of irradiation involves two parameters, they can no longer be effectively compared. The usefulness of a single figure to express the biological value of irradiation is obvious. With this aim, Cohen proposes calculation of levels of cell survival resulting from irradiation and extracts the parameters of this calculation from clinical results published in the literature. By similar analysis, Ellis has deduced the overall role of time factors which is expressed by the simple relation of the N.S.D., which has itself been at the origin of other expressions seeking to be more convenient and universal. Thus various solutions to the problem are available to radiotherapists. However a wide degree of disagreement exists between them, increasing with differences between the forms of irradiation...

Humans↗

[Criteria of the unfavorable course of meningoencephalitis of rhinogenic origin].

The paper presents the data on 318 patients who visited "Diagnostics" Medical Centre. Among the patients there were 195 women (61%) and 123 men (39%) aged 9-71 years. Somatizated mental pathology was diagnosed in 306 cases. A cohort of the patients examined reflected quite adequately both the frequency and the types of mental pathology, exactly: neurotic, personal, psychotic and organic (somatic). But these patients did not received necessary psychiatric aid. Clinical, cultural and social-psychological causes of this situation are considered. Among such causes there is deterioration of both dispensary and ambulatory-polyclinic psychiatric service.

Abscess↗

[Prevalence and structure of borderline mental disorders in adolescent groups].

328 schoolchildren and students of 13-17 years of age were examined by clinical epidemiological method. Point prevalence of borderline mental disorders and of their separate clinical forms were compared in two groups: pupils of secondary schools (148 cases) and students of the professional technical schools (PTS) (180 individuals). General prevalence of the borderline mental disorders was equal to 58.2%. It was higher in the group of pupils of secondary schools (66.7%) as compared with PTS students (49.3%). Neurotic disorders were more frequently found in pupils, while pathology of the personality--in PTS students. As the adolescent were of the same age and were under the influence of the same biologic factors (puberty period), the conclusion is made that the main factors in the formation of these differences were related to the social and cultural conditions.

Adaptation, Psychological↗

[Vaginismus--a psychiatric perspective, "secrets" and other psychodynamic causes].

Vaginismus is a disorder involving both psychiatry and gynecology. Psychiatric help is sought in only a small proportion of cases, although it is probable that the psychological etiology of the disorder is more frequent than generally recognized. This article deals with the causes and psychological circumstances of the disorder. Five cases are presented. In the first three cases, primary vaginismus caused unconsummated marriage in young women of religious or traditional background. In these cases a "secret" was revealed relating to a previous sexually related experience. This provides the basis for therapy. The other cases describe secondary vaginismus which appeared in older women who developed the symptom after a number of years of marriage. This article discusses the different psychotherapeutic approaches for the two types of cases. In the former cases, therapy may be brief and the prognosis is favorable. In the second case type, there is often more significant personality or marital pathology requiring prolonged and extensive psychotherapy. The authors stress the need for physicians to be mindful of cases of vaginismus requiring psychiatric intervention rather than gynecological treatment.

Adult↗

[Cerebral vasoreactivity and functional response in stroke: a study with functional MR].

INTRODUCTION: Lacunar infarcts are usually associated with anatomical and possibly functional changes in the walls of small blood vessels (penetrating arteries). The functional effect varies and is accompanied by cerebral adaptive/reorganizational changes. BOLD contrast, originated in the microvasculature (especially with ultra high magnetic fields) depends, in the end, on haemodynamic changes and is useful for exploring patterns of cerebral activation using fMR. OBJECTIVES: To compare the temporal behaviour of the BOLD signal and the distribution of activation between a group of patients with no functional sequelae following a stroke and a control group, by using fMR at 3T. RESULTS: The stroke group showed a smaller number of voxels activated, but this was not statistically significant. The patterns of activation, size of the sensor motor area (SM or ASM) and index of laterality were similar in both groups. In SM the BOLD response was 85% slower (p< 0.01) and 25% less (not statistically significant). CONCLUSIONS: We found no differences in the patterns of activation of the two groups. This may be explained by the minimal lesions of the stroke group, which were insufficient to produce reorganizational/adaptive changes or by the great variety of responses. The temporal response of the BOLD response was different in the stroke group, probably as a result of the alteration in the haemodynamic response in relation to the underlying processes which damage the functional properties of the vascular wall. This difference in the BOLD response should be interpreted with caution, and borne in mind when interpreting activation in persons with vascular pathology. Further studies are necessary for better understanding of its significance.

Aged↗

[Neuropsychiatric complications after stroke].

Stroke represents a major public health problem in Hungary, but relatively little attention is directed toward poststroke neuropsychiatric disturbances. Stroke patients frequently represent mood disturbances, cognitive decline, anxiety disorders, and sometimes serious schizophorm or paranoid states. Poststroke depression is the most common and possibly amenable form to therapeutic intervention. Depressive symptoms have negative effect on the rehabilitation process, quality of life and even on long-term survival. Considering drug therapy, in the past decade tricyclic drugs have been replaced by newly developed antidepressants with milder side-effects profile. Our knowledge on the relationship among vascular and other types of dementia has been extended in the recent years. This development also has some therapeutic implications. It seems likely that other psychiatric disorders, psychoses, pathological affect and personality disorders also inhibit recovery and limit long-term quality of life, but available data on this topic is limited.

Anxiety↗

[Color Doppler sonography of normal male genitalia and varicocele].

The present paper reports on the results of complex sonographic examination of scrotum organs in 116 patients. The study was performed with Siemens sonographic unit. According to clinico-laboratory data and results of operative intervention, the patients were divided into two groups. The 1st group (8 persons) had no pathology in the scrotum organs, the 2nd group (98 patients) had diagnosis of varicocele. In norm capsular, centripetal and transmeridian arteries were visualized in the projection of testis in colour Doppler sonography. Resistancy index was measured. The group with varicocele in colour Doppler sonography with Valsalva test showed a prolonged retrograde wave of blood flow during the whole period of tension. To determine the stage of pathologic process, a scale system had been used. Doppler sonography enables to reveal various types of reflux. The character of reflux determines a pathogenetic cause of varicocele that effects on the choice of the method of operative intervention. Parameters of colour Doppler sonography allow to determine the stage of the disease and reveal subclinical varicocele in cases when pampiniform plexus is absent, but significant hemodynamic changes take place. The data of Doppler sonography have been confirmed by the results of operative intervention.

Adolescent↗

[Medical classification of foci of multiple and unknown chemical affections].

The purpose of this work was to define the diagnostic methods in unspecific syndromes of exogenous intoxication and their use for conduction of medical classification in the foci of polychemical and unknown chemical affections. Detection of unspecific syndromes of extreme pathologic process in persons affected by dangerous chemical substances will contribute to organization of two-stage medical support, will facilitate the conduction of medical classification, determination of type and volume of medical assistance.

Adaptation, Physiological↗

Admission criteria in short-term geriatric assessment units: a Delphi study.

BACKGROUND: In recent years, short-term geriatric care units that operate using an interdisciplinary approach have been established in Quebec and elsewhere, in order to provide frail elderly persons with better health care. The purpose of this study is to determine criteria that target the greatest number of individuals most likely to benefit from hospitalization in this type of care unit. METHODS: A Delphi survey was conducted. The panel of experts consisted of 54 physicians and nurses working in short-term geriatric care units in Quebec. Three questionnaires were mailed and 4-level Likert scales were used. Median values, and 25th and 75th percentiles to a maximum of 2, were chosen a priori as the definition of consensus. RESULTS: The survey used 14 inclusion criteria and 17 exclusion criteria. Inclusion criteria were divided into two categories and exclusion criteria were divided into four. INTERPRETATION: A typical clinical profile of a patient who should be admitted to a STGCU emerges: an elderly person presenting multiple pathologies, acute or sub-acute functional disability, and often related psychosocial problems. The instrument developed by this project is a practical guide for professionals in STGAUs as well as those responsible for allocating resources in the health care system.

Aged↗

[A method increasing G-tolerance of fighters' pilots with symptoms of the partial cardiovascular deficiency].

Training on the static ergometer was shown to increase tolerance of fighters' pilots for radial accelerations. Proposed is a program of training on the static ergometer consisting of two incremental loads in the interval between 120 and 240 kgf. In persons with cardiac pathologies this training program noticeably improved parameters of the cardiovascular adaptive reaction to static loads. Effectiveness, technical simplicity and low cost of the training are the attributes that can insure it a proper place in the rehabilitative treatment of pilots prior to or during the institutional examination as a part of the medical flight certification.

Adult↗

[Use of cannabis: screening strategy and evaluation of severity factors].

Cannabis consumption occupies a front place in the field of addictions in France, not only by the levels of consumption but also by the related health harms induced with a growing potentially problematic use of cannabis among young men (14% of those aged 14 to 18 in 2001). Therefore, it is not only an educational problem but also a public health issue. Harmful cannabis use must be systematically researched by history taking on the consumption of tobacco, alcohol and drugs as an integrated part of the patient's social history. The diagnostic of cannabis abuse is made by a clinical evaluation of harmful use, the frequency and quantity of consumption, the search for complications. The practitioner must also evaluate the factors of severity (modalities of consumption and parameters predictive of poor outcome like precocity of first experiences, auto-therapeutic use and the various types of individual and social vulnerability: personality characteristics, psychiatric pathology, family characteristics and social environment). The physician may also be helped by drug screening diagnostic and evaluation instruments like validated autoquestionnaires. Urinary screening can be used especially in public health or forensic medicine fields. Some situational risks must be known while cannabis intoxicated: pregnant women, mentally ill, driving, working. Finally, professionals must know that present situation is very different from what we knew in the seventies and that they have to cope with this fast moving issue.

Acute Disease↗

[Immunocytochemical detection of creatine kinase isoenzymes (CK BB) in human cerebral cortex].

The localization of creatine phosphokinase-BB (CPK-BB) in the neocortex of persons without mental pathology, who died of cardiovascular diseases (n-15) was investigated immunocytochemically. It has been found that there are several differences in the visualization of CPK-BB in neurons and astrocytes under various conditions of autopsy material treatment. The data obtained may attest to the existence of the immunochemically different forms of CPK-BB in the human brain. The appropriate conditions were defined for satisfactory visualization of CPK-BB on material of pathomorphologic collections.

Adult↗

[Somatic mutagenesis at T-cell receptor locus in inhabitants of radiation polluted regions as a result of the Chernobyl disaster].

In the period of 2001-2004, frequency of cells bearing mutations at T-cell receptor (TCR) locus was assessed in 553 inhabitants of radiation polluted regions of the Russian Federation and 154 unexposed control persons. The inhabitants were divided into three groups according to age at the moment of the Chernobyl disaster and 137Cs pollution density: 1) in utero, 37-555 kBq/m2; 2) 0-14 years old, 20-555 kBq/m2; 3) 18 and more years old, highest 137Cs density (185 more than 555 kBq/m2). The most intense changes of the TCR-mutant cell frequency were observed in the group of persons exposed to ionizing radiation in utero. The mean frequency of the mutant cells was higher in the first group than in age-matched control group by about 1.5-fold: 4.0 x 10(-4) vs 2.7 x 10(-4) accordingly (p < 0.0001). Elevation in the mean TCR-mutant cell frequency was less expressed in group of inhabitants aged 0-14 years at the moment of irradiation start: 1.3-fold increase in comparison to age-matched control (3.8 x 10(-4) vs 2.9 x 10(-4), p = 0.0002). It was not found significant differences in mutant cell frequencies between control group and adults consisting in the third group (18 and more years old at the moment of the Chernobyl accident). The changes of the TCR-mutant cell frequency in persons exposed in pre- and postnatal periods differ not only quantitatively, but qualitatively. In the fist case all persons react to irradiation by increasing number of the TCR-mutant cells in some degree. In the second case - only a part of population. Proportion of reacting persons depends on age at the start of irradiation and, perhaps, on dose absorbed. The TCR-mutant frequency was significantly higher in persons with benign tumors of different localizations and nodules in thyroid gland than in persons without this pathology.

Chernobyl Nuclear Accident↗