ABSTRACT
A case of Rokitansky syndrome is reported in association with total agenesis of the uterus and vagina. All pathogenic, clinic, diagnostic and therapeutic viewpoints are mentioned. The Authors emphasize the importance of an early diagnosis and careful psychological training of patients and their families since a successful reconstructive treatment depends upon an absolute and lasting cooperation.
Subject(s)
Uterus/abnormalities , Vagina/abnormalities , Adolescent , Amenorrhea/etiology , Female , Humans , SyndromeSubject(s)
Boutonneuse Fever/diagnosis , Antibodies/analysis , Boutonneuse Fever/etiology , Boutonneuse Fever/immunology , Child , Humans , MaleABSTRACT
A case of Hutchinson-Gilford progeria syndrome is described in which phenotypic and metabolic symptoms were already evident at birth. Both under a clinical and autopsy point of view an early old age of organs and apparatuses was apparent, posing the problem of the reason why an early old aging occurs. The authors mention literature in favour of a genetic control of cellular aging and make the assumption that the genes controlling old age are various and that a greater or lesser presence and incidence of them could justify the earlier or normal appearance of this status.
Subject(s)
Progeria/pathology , Humans , Infant, Newborn , Male , Phenotype , Progeria/metabolismSubject(s)
Amino Acids/blood , Hepatolenticular Degeneration/blood , Adolescent , Adult , Child , Child, Preschool , Female , Hepatolenticular Degeneration/genetics , Heterozygote , Homozygote , Humans , Liver/pathology , MaleSubject(s)
Metabolism, Inborn Errors , Pyruvate Kinase/metabolism , Thalassemia/complications , Child , Female , Humans , Male , Pedigree , Thalassemia/geneticsSubject(s)
Erythrocytes/metabolism , Hematologic Diseases/blood , Muscular Dystrophies/blood , Nucleotides/blood , Anemia/blood , Animals , Child , Child, Preschool , Chromatography , Glucosephosphate Dehydrogenase Deficiency/blood , Humans , Methods , Rabbits , Spherocytosis, Hereditary/blood , Thalassemia/blood , Uremia/complicationsSubject(s)
Anemia/blood , Erythrocytes/analysis , Nucleotides/blood , Animals , Bloodletting/adverse effects , RabbitsSubject(s)
Erythrocytes/analysis , Nucleotides/blood , Thalassemia/blood , Adolescent , Child , Child, Preschool , Chromatography, Ion Exchange , Female , Humans , MaleSubject(s)
Anemia/blood , Erythrocytes/analysis , Kidney Diseases/complications , Nucleotides/analysis , Uremia/complications , Adult , Child , Chronic Disease , Female , Humans , MaleSubject(s)
Erythrocytes/analysis , Infant, Newborn , Infant, Premature , Neuraminic Acids/blood , Female , Humans , MaleABSTRACT
The present paper follows a previous one that dealt with the theoretical principles of a self modulating derivative optical spectrometer (SMODOS). In this paper the complete description is given of a prototype of such an instrument, namely, of its optical as well as electronic components. The project criteria are thoroughly discussed, and some examples of performance that demonstrate the power of the method are presented.
