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PubMed1990

[Long-term remission in diabetes mellitus diagnosed at an early age].

The authors deal with the clinical picture of total remission in diabetes, among young patients (below 30 years). In their interpretation "complete remission" means total withdrawal of insulin treatment for at least 2 months. Out of 14 patients with complete remission, the classified 7 patients--by clinical and immunogenetical parameters--as noninsulin-dependent diabetes in the young (MODY-NIDDY). 1 diabetic patient belongs to the autoimmune-subgroup of IDDM. The remaining 6 patients could be classified as IDDM-s. However their clinical and immunogenetical parameters were rather atypical. In conclusion they raised the possibility that this subgroup is heterogenous with in IDDM.

Adolescent↗
PubMed1989

[Chronic non-insulin deficient hyperglycemia in children].

We report the clinical records of 45 children with abnormalities regarding glycemic regulation characterized by a non-insulin deficient hyperglycemia (NIDH), known under the different names of chemical diabetes, sub-clinical diabetes and more recently MODY. These 45 children belong to 31 families with 532 relatives comprising 137 cases of NIDH which could have been studied. The symptoms of this biochemical abnormality, the pathophysiology of which is not yet clearly understood, are the following: lack of clinical manifestations, except for a variable and intermittent glycosuria; constant abnormal glucose tolerance tests, above 97 percentiles of the reference value with some variations over time; normal immunoreactive insulin levels; percentage of glycosylated hemoglobin at the upper range of normal; dominant autosomal genetic transmission and no association with HLA markers like in insulin-dependent diabetes; lack of degenerative complications of the micro-angiopathic type, at least on these cases even after more than 30 years of follow-up; finally, no tendency towards insulin-dependent diabetes. The NIDH should not be confused with the slow and progressive beginning of insulin-dependent diabetes for which prolonged delay is needed to affirm the diagnosis. The frequency of the biochemical phenomena is about 1.8% of the cases of authentic diabetes mellitus occurring before the age of 15.

Adolescent↗
PubMed1987

Closely related alpha-tropomyosin mRNAs in quail fibroblasts and skeletal muscle cells.

We describe the analysis of two quail cDNA clones representing distinct but closely related alpha-tropomyosin mRNAs. cDNA clone cC101 corresponds to a 1.2-kilobase RNA which accumulates to high levels during myoblast differentiation and which encodes the major isoform of skeletal muscle alpha-tropomyosin. cDNA clone cC102 corresponds to a 2-kilobase RNA which is abundant in cultured embryonic skin fibroblasts and which encodes one of two alpha-tropomyosin-related fibroblast tropomyosins of 35,000 and 34,000 daltons apparent molecular mass (class 1 tropomyosins). The cC102 protein is unique among reported nonstriated-muscle tropomyosins in being identical in amino acid sequence to the major isoform of skeletal muscle alpha-tropomyosin over an uninterrupted stretch of at least 183 amino acids (residues 75-257). The two protein sequences differ in the COOH-terminal region beginning with residue 258. Because the cC101 and cC102 RNAs share an extensive region (at least 373 nucleotides) of nucleotide sequence identity upstream of the codon for residue 258, they are likely derived from a single gene by alternative RNA splicing, as was recently proposed in the case of related beta-tropomyosin mRNAs in human fibroblasts and skeletal muscle (MacLeod, A. R., Houlker, C., Reinach, R. C., Smillie, L. B., Talbot, K., Modi, G., and Walsh, F. S. (1985) Proc. Natl. Acad. Sci. U.S.A. 82, 7835-7837). No alpha-tropomyosin-related RNAs are abundant in undifferentiated myoblasts. This suggests the possibility of a fibroblast-specific function, as opposed to a general nonmuscle-cell function for class 1 tropomyosins and also has implications for the regulation of alpha-tropomyosin gene expression during embryonic development.

Amino Acid Sequence↗
PubMed1985

[Cardiac anxiety syndrome. Etiologic significance of orientation crises and orientation conflicts and their consequences for therapeutic practice].

In the framework of a phenomenological approach to cardiac neurosis the author investigated 20 patients suffering from this disease regarding their kind of communication disorder and conflicts in order to find out the main conditions for etiology. This study is based on the conception of so-called "Anthropological-integrative Psychotherapy" developed by D. Wyss. He conceptualized fundamental structures of communication representing the structural aspect of a psychosomatic disease and modi of communication in order to show its dynamic aspect. The purpose of this investigation was to examine disproportions, deficiencies, compensatory hypertrophy and conflicts in the six fundamental structures of communication (Living Space, Orientation, Order, Time, Body, Performance). In accordance with many other publications separation anxiety, ambivalence between tie and separation, aggressive restraint, sexual disorders and conflicts in the structure of "performance" are confirmed as significant etiological factors. In addition, conflicts, crises and deficiency of orientation have proved to be of major importance. This is the essential result of this study and an important new contribution to our understanding of cardiac neurosis. The therapies of 3 patients suffering from cardiac neurosis are reviewed to illustrate the three main kinds of disorders in orientation. Finally the therapeutic consequences are discussed. The constitution of new orientation in an intersubjective and dialogic process seems to be an essential aim for psychotherapeutic treatment of cardiac neurosis.

Adaptation, Psychological↗
PubMed1979

[Spur development in chick embryos].

Normal development of spurs and horny squamae have been studied in histological preparations obtained from the skin of tarsometatarsus in 8--16-day-old embryos. During the first, initial stage of development, by means of rearrangement of cellular matter and cell migration, three main parts of the spur are layed down -- the horny cover, the spur body and the fibrovascular cushion. For the second stage, vigorous growth of the spur germ at the expense of proliferative activity of its cells is characteristic. At the third stage (after hatching) in males, the spur body outgrows and the bony core is formed. Morphogenesis of the horny squama can be devided into two stages. At the initial stages by means of condensing cellular elements, squamous papilla and horny shell are layed down. The fibrovascular cushion is absent. The second stage is similar to the spur one and is characterized by growth of all the germ parts at the expense of cell proliferation. Comparing morphogeneses of the squama and the spur, it is possible to conclude that phylogenetic transformation of the squama into the spur is performed by two means (modi) of phyloembryogenesis: by means of adding new signs of development to the initial terminal stages of its morphogenesis.

Animals↗
PubMed1983

[Dreams and communication].

Since S. Freud in psychoanalytic theories of dreaming the communicative function of dreaming attained more and more importance. Phenomenological researchers - e. g. L. Binswanger, V. E. v. Gebsattel , M. Boss , D. v. Uslar and especially D. Wyss - consider communication and meeting as origin of dream-experience. They emphasize the possibilities of "being" and "existence" which are inaugurated by dreaming. D. Wyss widened the horizon of understanding by pointing out the relation of dreams to "perspective/ aperspective " and to the category of "possibilities". He describes the therapeutic interpretation of dreams as an intersubjective and dialogic process. The modi of communication created by D. Wyss turned out to be very suitable in order to illustrate the communicative power and potentialities of dreams.

Communication↗
PubMed1984

[Significance of the D. Wyss communication mode for the interpretation of dreams in psychotherapeutic practice].

The author illustrates how dreams are interpreted in " Anthropologic -integrative Psychotherapy" created by D. Wyss . A case report of a patient suffering from "cardiac neurosis" is given. Many dreams which were communicated in this therapeutic process are reviewed. The modi of communication pointed out by D. Wyss are used to clarify the communicative potentialities of these dreams.

Adult↗
PubMed1981

[The HLA system and diabetes mellitus].

Diabetes is a heterogeneous disease, and its pathogenesis and etiology are still largely unknown. Recent studies have brought new knowledge showing that HLA antigens and diabetes mellitus are related. It has been found that the relative risk of juvenile onset diabetes requiring insulin treatment is greater for persons who are HLA-A1, A2, B8, BW15, BW40, CW3, DW3, DW4, DRW3 and DRW4 positive. The relative risk of the disease is additive in persons who have two of the above mentioned HLA-B alleles. Some HLA antigens (HLA-B7, DW2, DRW2, A11) are associated with a significantly lower risk of the disease and probably have a "protective" character. Maturity onset diabetes (MOD) and maturity onset diabetes not requiring insulin treatment (MODY) are not related to the HLA system. This means that MOD is completely distinct from JOD with different symptoms, course and etiopathogenesis.

Diabetes Mellitus↗
PubMed1995

[The human genome--chromosome 20].

There is an increasing interest on one of the smallest human chromosomes as it is shown by the First International Symposium on the Human Chromosome 20 and by the genetic map prepared by EUROGEN. The conserved part of the long arm of human chromosome 20 is synthenic with the distal part of the mouse chromosome 2 allowing for some analogies between them. Human chromosome 20 contains several important genes for the human pathology. Mutations of one of them, the vasopressin-neurophysin II gene, are responsible for hereditary neurohypophyseal diabetes insipidus. Severe combined immunodeficiency due to adenosin deaminase deficiency is the first human disorder successfully treated by somatic gene therapy. Spongiform encephalopathies are related to mutation and/or polymorphisms of the PRNP amyloid gene. One form of benign familiar neonatal convulsions is mapped to a specific locus on chromosome 20. In some families, maturity onset diabetes of the young (MODY) is caused by alterations of a hypothetical gene closely linked to the ADA locus. Allegile syndrome is often associated with deletions and microdeletions of the short arm of the chromosome. Finally, deletions of the long arm of the chromosome is a frequent finding in several hematologic malignities, specifically in myeloproliferative disorders and myelodysplastic syndromes.

Chromosomes, Human, Pair 20↗
PubMed1995

[Genetic diagnosis of diabetes mellitus].

NIDDM is likely to have a major genetic component in view of the different prevalence between ethnic groups, the familial clustering, and the high concordance in monozygotic twins. Linkage analysis of extended pedigrees of patients with maturity-onset diabetes of the young (MODY) identified the glucokinase gene mutations. Specific phenotypes have also led to the discovery of the insulin gene mutations in patients with high insulin or proinsulin levels, to the insulin receptor mutations in patients with marked insulin resistance, and to the mutations in mitochondrial DNA associated with deafness and maternal inheritance. These four types of diabetogenic gene mutations account for only a minor proportion of NIDDM. Direct screening for mutations in candidate genes with single-strand conformation polymorphism or heteroduplex screening or with direct sequencing in the diabetic patients with the appropriate pathophysiological abnormality can be a successful strategy. Genetic diagnosis provides clear definite diagnosis and specific therapies, such as IGF-1 for the insulin receptor mutations and coenzyme Q10 for the mitochondrial gene mutations.

DNA, Mitochondrial↗
PubMed1994

[Mutations of glucokinase gene in Japanese subjects with NIDDM].

Glucokinase has been proposed to play an important role as a glucose sensor in pancreatic beta-cells. Mutations in the glucokinase gene have been shown to be the major cause of maturity-onset diabetes of the young (MODY) in Caucasian subjects. In population-association study with microsatellite DNA polymorphisms in Japanese subjects with NIDDM, a negative association was evident between NIDDM and the glucokinase gene locus, although contradictionary results were present. Using PCR-SSCP analysis, no glucokinase mutation, which induces changes in amino acid residues, was identified in Japanese subjects with classical late-onset NIDDM. These results suggest that mutations in this gene are not the major cause of common form NIDDM in Japanese.

Asian People↗
PubMed1994

[Human glucagon-like peptide-1 receptor gene in NIDDM].

Glucagon-like peptide-1 (GLP-1) stimulate glucose dependent insulin secretion from beta-cells. Human cDNA and the gene of the receptor for the GLP-1 was isolated. Two polymorphic simple tandem repeats were found in the gene. Using these markers, role of GLP-1 receptor mutations in the pathogenesis of NIDDM was studied. No association was found between the marker alleles and NIDDM in African American or in Japanese. Linkage was rejected between the GLP-1 receptor gene and NIDDM in Caucasian late-onset NIDDM families and in French MODY families. Mutations in the GLP-1 receptor gene do not appear to be major genetic determinants of NIDDM. Further studies are required to exclude the minor role of the gene in a fraction of NIDDM patients.

Asian People↗
PubMed1994

[Is a gene therapy for diabetic syndromes foreseeable?].

The concepts and methods of gene therapy are summarized in order to assess a possible implication in the treatment of diabetes mellitus. Gene therapy requires identification of the critical genetic defect and then the preparation and introduction of the therapeutic transgene, with an appropriate targeting and a strong regulated expression. The bases of the different human diabetic syndromes are reviewed in their present state of knowledge: they are mostly clarified in the case of MODY, extreme insulin resistance syndromes, and some mitochondrial diabetic syndromes; but still obscure in the case of Type 2 and Type 1 diabetic syndromes. Substantial contributions to the understanding of the pathophysiology of diabetes have been brought by transgenic animal models. Gene therapy of human diabetic syndromes may become available, in an undetermined future, particularly under the forms of insulin secreting transgenic "organoïds". Such treatments should be proportionate to the intrinsic severity of the candidate diseases and carefully screened for safety.

Animals↗
PubMed1993

Detection of IgM antibodies against coxsackie B viruses by a western blot technique.

We report the application of a modified Western blot (WB) micromethod basically relying on a diffusion-blotting technique (Modi-blot) combined with an immunological detection system using monoclonal antibodies and a biotinavidin amplification step for the detection of IgM antibodies against coxsackieviruses B1 (CBV1), CBV2 and CBV4. Fifty-one adult patients with clinical signs of coxsackievirus B infection (e.g. myocarditis and meningitis) were investigated. The test revealed a total of 31 (60%) IgM positives. The majority of IgM antibodies were group reactive (22/31). Type-specific antibodies could be recognized in 9 cases (3 with CBV1, 5 with CBV2 and 1 with CBV4). The highest rate of antibody prevalence was found in sera from patients with acute meningitis (12/14). Controls [healthy adults (n = 13) and individuals with other infections (n = 13)] were all negative for specific IgM against coxsackievirus B1, B2 and B4. Further WB tests of 8 IgM positive specimens with coxsackievirus B4 revealed specific IgA responses in all cases, reinforcing the evidence for a recent infection. In addition, the patterns of IgG antibody subclasses, also investigated in this group, showed a clear predominance of specific IgG1 and IgG3 antibodies.

Acute Disease↗
PubMedDate not supplied

Genetic determinants of type 2 diabetes mellitus: lessons learned from family studies.

Non insulin dependent diabetes mellitus (Type 2) is a multifactorial disease, with a polygenic inheritance and environmental factors contributing to its clinical expression. The search for the genetic determinants of Type 2 diabetes began when several genes involved in the mechanisms of insulin secretion or action were cloned, localized in the human genome, and when informative polymorphisms were described within or in the vicinity of these genes. It then became possible to compare, in groups of patients and normoglycaemic controls from various populations, the frequency of the different alleles of polymorphic markers of various candidate genes (e.g. insulin, insulin receptor, glucose transporters). The conflicting results observed in these studies can be ascribed to the small size of the population samples, to the genetic heterogeneity of Type 2 diabetes mellitus, but also to the methodology used therein. Indeed, these studies searched for a correlation between the frequency of certain alleles or genotypes and the phenotype of diabetes (studies of associations in affected populations compared to healthy controls). However in order to attribute to a gene the responsibility for a disease it is necessary to demonstrate the cotransmission in affected kindreds of a morbid allele of the gene along with the disease (familial or linkage analysis). The aim of this review is to summarize the results of family studies of Type 2 diabetes and Maturity Onset Diabetes of the Young (MODY), particularly with concern to the mutations described in candidate genes, and the implication of glucokinase in these disorders.

Amyloid↗
PubMed1996

[Diagnosis of diabetes mellitus in children].

Diabetes in childhood is essentially represented by the type 1 or insulin-dependent diabetes mellitus (IDDM). Classical symptoms (polyuria, polydipsia, asthenia, weight loss) are usually present at the first consultation and allow an immediate diagnosis at the physician's office by performing capillary (finger-prick) blood glucose measurement (> or = 200 mg/dL) and urine-stripe test (detection of glucosuria and ketonuria). A diagnosis performed at this stage of the disease leads to the admission of the child at hospital, in order to institute the insulintherapy without delay. This attitude should permit to avoid the rapid development of diabetic keto-acidosis, which is at present too much frequent at diagnosis (50% of the cases) and which is associated with potential risks of severe complications in children. In case of incidental detection of hyperglycemia without ketonuria in childhood, the differential diagnoses of early IDDM are the rare form of familial non insulin-dependent diabetes with onset in childhood (MODY: maturity-onset diabetes of the young) and the transient hyperglycemia in childhood. Finally, diabetes could also develop in the course of an other chronic disease (i.e. cystic fibrosis) or as part of genetical syndroms.

Adolescent↗
PubMed1996

[Questionnaire to assess perception of chronic disease in couples. Perceptual pattern in coronary patients and their partners].

103 male patients with coronary heart disease and their partners filled out the Questionnaire about the Perception of an Illness and its Consequences (Fragebogen zur Wahrnehmung der Krankheit und ihrer Folgen, FWKF) which is available for both the patient and his partner. Factor analyses were done separately for the items of both FWKF versions, which examine with the consequences of coronary heart disease. Four interpretable factors were calculated, which are highly congruent in both versions: "dependency vs. independency", "resignation vs. hope regarding the physical condition", "positive vs. negative anticipation regarding social resonance" and " self and partner orientation vs. achievement". Four scales were derived which enable a diagnosis of the perception and coping modi of the patient and his partner and to draw conclusions about the partner interaction. Couples could be identified where both partners take similar extreme positions. They thus leave themselves little room for development. The significance of these results for more well-directed and therefore more improved psychosocial counselling of coronary patients and their partners is discussed.

Adaptation, Psychological↗
PubMed1996

[Variable expression of non insulin dependent diabetes mellitus in childhood].

Non Insulin Dependent Diabetes Mellitus (NIDDM) in pediatric age remains not well defined as a nosological entity. The so-called Maturity Onset Diabetes of the Young (MODY), for example, recognizes three different etiologies. Three cases are presented as an example of different possibilities of onset and evolution in pediatric age: a 12.5 year old girl presents a positive familial history of NIDDM, a slow onset of the disease and goes on well with administration of an oral hypoglycemic drug; a 12.5 year old girl too, with a positive familial history of NIDDM, with acute onset of the disease, needed an oral hypoglycemic drug when she was overweight. Having lost the ponderal excess, she goes on very well with the diet alone; a 13 year old girl without any familial history of NIDDM, who presented a dramatic onset in occasion of an intercurrent illness; she required insulin therapy only during a steroidal therapy period, administered for ovaric polycystosis. The authors argue over the age of onset, the familial history and the therapeutic approach to NIDDM in pediatric age.

Adolescent↗