PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “Disorders”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 37 records · Page 2Linked to original sources
PubMed1976

The pathophysiology of sleep disorders in pediatrics. Part II. Sleep disorders in children.

In this part of the chapter we have used new terminology and developed a new system for classification of sleep disorders in children. We suggest that excessive daytime sleepiness should be investigated by clinicians before troubles at school necessitate referral. The narcolepsy-hypersomnia syndrome generally has not been recognized in the pediatric age group. Symptoms of excessive fear of falling asleep need to be viewed in this context. Sleep apnea-hypersomnia has received insufficient attention in the American literature. It is a syndrome that affects both adults and children with potentially disastrous cardiovascular and pulmonary complications. The relationship of the sleep apnea-hypersomnia syndrome to the sudded infant death syndrome remains speculative, although preliminary results from our longitudinal study have indicated a possible link. Both the narcolepsy-hypersomnia and the sleep apnea-hypersomnia syndromes are reviewed in detail. In contrast, we review briefly the NREM dyssomnias, including night terrors, sleepwalking, sleep talking and enuresis. All are well known to clinicians dealing with children, and we have related them to findings emanating from the sleep laboratory. We suggest that they are physiologically rather than psychogenically based and frequently represent immaturities of the central nervous system. Finally, the insomnias of childhood are presented. We emphasize that they are rare, and after ruling out organic conditions and drug-dependency syndromes, cultural styles or family stresses generally account for the majority of complaints.

Apnea↗
PubMed2024

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

PURPOSE: The thousand and one kinase (TAOK) proteins are a group of serine/threonine-protein kinases involved in signaling pathways, cytoskeleton regulation, and neuronal development. TAOK1 variants are associated with a neurodevelopmental disorder (NDD) characterized by distinctive facial features, hypotonia, and feeding difficulties. TAOK2 variants have been reported to be associated with autism and early-onset obesity. However, a distinct TAOK2-NDD has not yet been delineated. METHODS: We retrospectively studied the clinical and genetic data of individuals recruited from several centers with TAOK1 and TAOK2 variants that were detected through exome and genome sequencing. RESULTS: We report 50 individuals with TAOK1 variants with associated phenotypes, including neurodevelopmental abnormalities (100%), macrocephaly (83%), and hypotonia (58%). We report male genital anomalies and hypoglycemia as novel phenotypes. Thirty-seven unique TAOK1 variants were identified. Most of the missense variants clustered in the protein kinase domain at residues that are intolerant to missense variation. We report 10 individuals with TAOK2 variants with associated phenotypes, including neurodevelopmental abnormalities (100%), macrocephaly (75%), autism (75%), and obesity (70%). CONCLUSION: We describe the largest cohort of TAOK1-NDD to date, to our knowledge, expanding its phenotype and genotype spectrum with 30 novel variants. We delineated the phenotype of a novel TAOK2-NDD associated with neurodevelopmental abnormalities, autism, macrocephaly, and obesity.

Humans↗
PubMed1978

[Myocardial energy metabolic disorders in emotional-pain stress and the prevention of these disorders by using sodium gamma-oxybutyrate].

Marked disorders of energy metabolism in the heart muscle simultaneously with the development of ulcerous lesions of the stomach were revealed in animals which had suffered an emotional-pain stress (EPS). These disorders are displayed in the fact that two hours after EPS, the glycogen reserve in the animal's myocardium diminishes, resynthesis of glycogen and oxidation of the main substrates of the tricarboxylic acid cycle are inhibited, and malate dehydrogenase and possibly other dehydrogenase systems of the mitochondria are partly inactivated. Such decrease in the activity of the metabolic tracts is attended by depression of the force and rate of cardiac contractions revealed on inducing a high rate of contractions. The preliminary administration of sodium gammaoxybutyrate to a considerable extent prevents all the changes in the animal's myocardium occurring due to the effect of EPS.

Animals↗
PubMed1979

Perspectives in the treatment of the psychoneurological disorders: affective disorders.

1. Current research strategies in the pharmacotherapy of the affective disorders are reviewed in an attempt to highlight major trends and areas of particular promise. 2. There has been some progress toward the identification of biologically defined subgroups by assessing amine metabolites in urine or cerebrospinal fluid which may lead to a more rational choice of therapies for depressed patients. 3. The use of drugs with receptor agonist properties may help define biological substrates altered in affective illness and lead to new approaches to treatment, such as utilization of low doses of receptor agonists which may preferentially stimulate presynaptic receptors. 4. Study of time-dependent and adaptive changes in receptor sensitivity may also add an important perspective in conceptualizing the cyclic process in manic-depressive illness and its treatment.

Animals↗
PubMed1979

[Situational reactions manifesting themselves in behavior disorders as a form of psychogenic (reactive) disorders in children and adolescents].

The paper is related to the history, elimination, clinical expression, systematics and the clinico-nozological place of the group of situational reactions expressed in disordered behaviour of children and adolescents. These reactions are considered as associated pairs, including interconnected psychological and pathological forms. Some common criteria delineating the psychological and pathological situational reactions are presented. The paper also contains a description of the main traits of psychological and pathological reactions of protest, rejection, imitation, compensation-hypercompensation. All these reactions are considered as a special group of psychogenic (reactive) diseases.

Adolescent↗
PubMed1979

Disordered growth hormone and prolactin secretion in primary disorders of sleep.

Growth hormone (GH) and prolactin (PR) secretion were evaluated in 28 patients who had sleep apnea or narcolepsy but no other primary neurologic or endocrine disorders. Eighty-one percent of subjects with impaired alertness failed to demonstrate serum GH concentrations in excess of 5 ng per milliliter following oral administration of L-DOPA, 500 mg. Diminished GH responses to sleep and intravenous arginine were observed in 57 percent and 44 percent, respectively, of patients tested. Sleep-related PRL release was less than normal in women with narcolepsy, with or without sleep apnea. All patients had at least one abnormality in GH or PRL secretion.

Adult↗
PubMed1978

[Congenital color vision disorders in persons with mental disorders].

Colour vision was studied in 3000 mental patients (2000 males and 1000 females) with different diseases by means of polychromatic tables and a spectral anomaloscope AH-59. It was established that the frequency of genetically determined pathology of colour vision in patients (9,3% in males and 08,% in females) is similar to the pathology found in the general population and does not depend upon the clinical diagnosis. At the same time there was a large amount of patients with acquired disorders to colour perception (30% of the general pathology of colour vision).

Color Vision Defects↗
PubMed1978

[Visual disorders in circulatory disorders of the area served by the posterior cerebral artery].

A neuroophthalmological examination of 89 patients with disorders of circulation in the basin of the posterior cerebral arteries demonstrated different variants of changes in the visual field and a drop of visual acuity. The visual disturbances in most of the cases were stable, sometimes with positive dynamics and only in 15% of the cases they were transient. The traits of visual disturbances, their combination with other neurological changes (visual-gnostical, visual-spacial impairment of memory) were connected with lesions of separate vessels of the vertebro-basillar and carotid systems. With the aid of functional tests in some cases hardly perceptible, insignificant disturbances in the system of the visual analyzer, permitting to correctly evaluate the visual changes and to establish their relation to certain vascular bains, were revealed.

Adult↗
PubMed1978

Intermingling and disordered logic as influences on schizophrenic 'thought disorders'.

A technique was devised to elicit bizarre or idiosyncratic responses from 30 young schizophrenics, who were then re-interviewed a week later to determine the reasons for each patient's idiosyncratic verbalizations. Taped interviews of the schizophrenics, scored along a series of rating scales, indicated: (1) An overt mechanism involved in bizarre schizophrenic language is a tendency to intermingle into their responses material from their current and past experiences. (2) Careful analysis suggests that the seemingly bizarre intermingled material of schizophrenics usually is close to the original "correct" topic. (3) The bizarre intermingled material is related to the patients' personal lives. (4) The intermingled material does not usually represent a failure to screen out or repress primitive drive dominated sexual or aggressive material. (5) Disordered logic was not a major factor in accounting for bizarre schizophrenic language.

Adult↗
PubMed1977

The 1977 Bela Schick Memorial Lecture: disorders of suppressor cells in the pathogenesis of immunodeficiency, autoimmune and allergic diseases: human disease associated with disorders of an immunological breaking system.

A series of suppressor cell systems regulate virtually all immunological processes. Disorders of suppressor cells have been identified, including an increased number of activated suppressor T cells in some patients with hypogammaglobulinemia or with selective IgA deficiency. At the other end of the spectrum of immunological response a reduction in suppressor T cell activity has been implicated in the pathogenesis of autoimmune and possibly allergic diseases.

Agammaglobulinemia↗
PubMed1977

[Mental disorders and professional determinants. Study of the time relationship between the beginning of professional life and the first disorder in teachers].

Analysis of the temporal relation between the beginning of mental illness and the beginning of professional life, according to a comparative anamnestic method applied to a group of teachers (N. = 94) and a matching control group of psychiatric paired out-patients (N. = 95). The results show that the distribution of illness prior to professional activity is linked with the diagnostic category and not with professional determinants, psychosis proving to be more impairing than neurosis. A high-risk age group for first incidence of psychotic disease was found.

Adult↗