Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0029713 (immaturity)
 4,335 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Institutionalized patients with Down syndrome and matched controls with other causes of mental retardation were tested by immune adherence hemagglutination for the presence of antibody to hepatitis A antigen (anti-HA). Altogether 75.1% (175 of 233) exhibited presence of anti-HA, with no differences by sex or age. Patients reactive for hepatitis B surface antigen (HBsAg) or its antibody (anti-HBs) were reactive for anti-HA significantly more frequently than those with a negative reaction for these markers. In contrast to serologic markers of hepatitis type B, prevalence of anti-HA does not depend on the cause of mental retardation or on the age at primary infection. The rate of anti-HA positivity was found to be closely correlated with duration of institutionalization. The study confirmed that many closed institutions for the mentally retarded are hyperendemic for hepatitis type A and that formation of anti-HA is not greatly affected by either immune deficiency or immune immaturity.
 ...
PMID:Antibody to hepatitis A antigen in institutionalized mentally retarded patients. 13 79

Trisomy 22 was confirmed in a 20-year-old ambulatory female. Growth and mental retardation plus various dysmorphic features of this syndrome are described and compared with a previous survey. Several interesting unreported findings such as sexual immaturity and gait are discussed in regard to the 22 trisomy syndrome.
 ...
PMID:Trisomy 22 in a 20-year-old female. 70 Jul 9

Endemic cretinism is the most severe manifestation of dietary iodine deficiency. Two forms of the syndrome are traditionally described: neurological and myxoedematous. Although this classification highlights the important neurological sequelae of the disorder it implies that myxoedematous cretins have an alternative mechanism. Further, the nature of the neurological deficit associated with both types of endemic cretinism has received scant attention in recent times considering that it remains a common disorder in many parts of the world. The nature and extent of the neurological deficit found in endemic cretinism was investigated in 104 cretins from a predominantly myxoedematous endemia in western China and in 35 cretins from central Java, Indonesia, a predominantly neurological endemia. We found a similar pattern of neurological involvement in nearly all cretins from both endemias, regardless of type (myxoedematous or neurological), and of current thyroid function. Hallmarks of the neurological features included mental retardation, pyramidal signs in a proximal distribution and extrapyramidal signs. Many patients exhibited a characteristic gait. This probably reflected pyramidal and extrapyramidal dysfunction, although joint laxity and deformity were important contributing factors. Other frequently encountered clinical features were squint, deafness, and primitive reflexes. Cerebral computerized tomography (CT) revealed basal ganglia calcification in 15 of 50 subjects. The presence of basal ganglia calcification was confined to cretins with severe hypothyroidism. Otherwise, cerebral CT scanning demonstrated only minor abnormalities which did not contribute to the localization of the clinical deficits. We conclude that the same neurological disorder is present in both types of endemic cretinism reflecting a diffuse insult to the developing fetal nervous system. These clinical findings support the concept of maternal and fetal hypothyroxinaemia, arising from severe iodine deficiency, as the primary pathophysiological event in endemic cretinism. Differences between the two types of cretinism may be explained by continuing postnatal thyroid hormone deficiency in the myxoedematous type, which results in impaired growth, skeletal retardation and sexual immaturity.
 ...
PMID:The neurology of endemic cretinism. A study of two endemias. 204 52

The aim of this study was to develop methods, categories, and criteria for investigating and evaluating parental functioning and potential and to relate the accuracy of such categories to prognosis. A case analysis, a predictive study, and a follow-up study of 17 abused and/or neglected children was conducted 5-6 years later. Categories were developed and cases analyzed for stress factors in childhood, youth, and early adult life and for factors related to social network, finances, work, accommodation, pregnancy, and marriage. The cases were also analyzed with regard to the following dimensions: immaturity, emotional problems, psychosis, mental retardation, alcohol and drugs. Seven areas of parental functioning were scored on a 4-point scale. The child's role and the effect of parents' unresolved problems upon the parent-child interaction were also studied. The findings of this study, limited though it is in scope, suggest that the prognosis for abusive and/or neglectful parents is poorer when they are scored high on immaturity than when they are scored high on emotional problems.
 ...
PMID:A predictive and follow-up study of abusive and neglectful families by case analysis. 204 77

This paper describes the clinical, hormonal and radiologic profiles in 282 children evaluated for hypothyroidism. Short stature, mental retardation or puberal disturbances were often the presenting features in the older age group, whereas in the 1-5 years age group medical opinion was usually sought for symptomatology suggestive of thyroid hypofunction. Children in the 0-1 year group were suspected on the basis of psychomotor dysfunction. Skeletal immaturity was found in 93.0% of patients with overt hypothyroidism and in 36.6% cases with normal thyroid profiles but associated with malnutrition. High TSH levels were noted in 70.9% of the cases studied. 4.9% and 7.3% patients with normal TSH had low T3, and T4 levels respectively. FSH, testosterone and PRL levels were also affected in some patients with overt hypothyroidism. Therapeutic responses based on at least 1 year follow up were available in 170 cases. The results are discussed.
 ...
PMID:Hypothyroidism in children/adolescents. Clinical and hormonal profiles. 263 58

Czechoslovak child neurologists devoted much attention to central infantile hypotonic syndrome (CIHS) in a series of investigations conducted in 1959-1986. They found that it is a developmental syndrome caused by affection of the immature brain, and later, at the age of 3-5 years, it disappears or transforms into other syndromes: most frequently cerebellar syndromes and developmental disintegrations (disintegration of the development of the CNS and medium-grade mental retardation). These groups overlap only little. From the hypotonic syndrome also the spastic syndrome or minor cerebral syndromes may develop. CIHS has, similarly as some other manifestations of CNS affections, multiple causes. One of them is most probably a defect of or lack of development of facilitating pathways of gamma fibres from the cerebellum or possibly from the reticular formation of the brain stem to the spinal cord; another probable cause is longer immaturity of the afferent system (which leads finally to developmental disintegration). It may be assumed that the facilitating systems of pathways develop later and are thus more immature and therefore more vulnerable. According to the latest information it seems that in CIHS also the muscular component participates as prenatal cerebral affections can cause myopathy with hypotonia.
 ...
PMID:[Central infantile hypotonia syndrome]. 273 94

Hand and feet malformations are often part of complex malformation associations. The present paper reports on a family whose three sibs (two males and one female) are affected with symmetric soft tissue syndactyly involving both fingers and toes, fifth finger clinodactyly, a pattern of dysmorphism including down slanting palpebral fissures, long flat nasal saddle, out turned nostril openings ("Greek warrior helmet"-like profile), dysplastic teeth, and, in addition, severe growth retardation, microcephaly, severe mental deficiency with immaturity of cerebral activity of EEG, hypergonadotropic hypogonadism and some skeletal anomalies. All cases show large secondary constriction in one of the chromosome 1 pair (1qh+).
 ...
PMID:[Syndactylia associated with multiple malformation syndromes. Observation of a new symptomatologic complex in 3 brothers]. 284 73

Congenital hypothyroidism is a common but preventable cause of mental retardation. The incidence of congenital hypothyroidism in the newborn population is about 1:3500 to 1:4000. Infants with Down's syndrome are at a special risk. Fort et al. reported an incidence of persistent primary congenital hypothyroidism in infants with Down's syndrome of 1:141 or 28 times higher than the general newborn population. Premature infants have varying degrees of immaturity of hypothalamic-pituitary-thyroid system and are at a special risk for a variety of thyroid disorders. These patients need adequate understanding and interpretation of their laboratory values before institution of replacement hormonal therapy. Screening programs are available in 48 states and have led to prompt diagnosis and recognition of most cases that would otherwise be missed. Prevention of mental retardation depends on early and adequate treatment. This requires close cooperation between the program and the physicians involved in the care of the infant. Many state screening programs maintain a list of experts who are available for consultation, if necessary.
 ...
PMID:Congenital hypothyroidism: diagnosis, treatment, and prognosis. 308 Dec 94

Among a great number of chromosomal aberrations, the absence of cerebral malformations does not explain the reason for mental retardation and will lead to interpreting as normal the echography of a fetus which, after birth, will be revealed to have a trisomy. Trisomic brain anomalies are not constant or obligatory, but some of them (holoprosencephaly for 61% of trisomy-13 and agenesis of corpus callosum for 8% of trisomy-18) have a degree of specificity. As for cerebral and cerebellar heterotopias, they cannot be considered as real malformations as they are frequently found in premature newborns and disappear with maturation, thus proving that they are a sign of immaturity. There is still a lot of work to be done before we are able to meet the request for fetal integrity formulated by contemporary couples.
 ...
PMID:Congenital malformations and chromosomal aberrations. 345 43

The comparison of 32 immature infants with mental retardation of various degree (based on the results of clinical, immunological and biochemical examinations) with full-term infants with analogous pathology showed in the former group a high incidence (82.8%) of cerebral antibodies to antigens of the homo- and heterological brain in the complement consumption test. Therapeutic measures helped to reduce neuroimmune changes while the presence of antibodies to the homologous brain remained stable. Using data on the excretion of vanillyl amygdalic and homovanillic acids, the authors established alterations in catecholamine catabolism as well as in the activity of serum amine oxidase, which depended on the degree of mental retardation. Changes in individual components of catecholamine metabolism were found to correlate with neuroimmune shifts. The data obtained point to the presence of changes in biogenic amine metabolism and in immunological processes in mentally retarded children, which are very likely to be caused by immaturity at birth.
 ...
PMID:[Clinico-pathogenetic correlations in intellectual deficiency in premature infants]. 403 16


1 2 Next >>