ABSTRACT
This report deals with the data gathered for a year concerning the incidence of luxation coxae congenita at the Hospital de Gineco-Obstetricia (Gynecology-Obstetrics Hospital) of the Unidad Médica Oblatos (Oblatos Medical Unit) of the Instituto Mexicano del Seguro Social (Mexican Institute of Social Security) in the city of Guadalajara, Jalisco, México. The results show an inverse correlation between the temperature and the number of cases, both statistically significant, demonstrating seasonality for luxation coxae congenita.
Subject(s)
Hip Dislocation, Congenital/epidemiology , Seasons , Birth Weight , Female , Gestational Age , Humans , Incidence , Infant, Newborn , Mexico/epidemiology , Parity , Sex Factors , TemperatureABSTRACT
A survey about leprosy was made in 1,000 students from the University of Guadalajara (Guadalajara, Jalisco, Mexico). There were considered clinical, preventive, social and etiological aspects. The results showed that the patient suffering leprosy is currently marginated. We suggest that this study should be carried out in other universities of Mexico, with purposes to verify the stigmata of this entity.
Subject(s)
Health Knowledge, Attitudes, Practice , Leprosy , Students , Adolescent , Adult , Attitude to Health , Female , Humans , Male , Mexico , Students/statistics & numerical data , Surveys and Questionnaires , UniversitiesABSTRACT
A syndrome characterized by progeroid facies, multiple nevi, mild mental retardation, skin hyperextensibility, bruisability, moderate skin fragility, joint hypermobility principally in digits, is described in two unrelated patients. Electron microscopy of the skin showed some fragmentation of the elastic fibers' portion and moderate electrodensity in the amorphous portion. Since a practically identical constellation of clinical features was previously reported in three patients, the individualization of a distinct connective tissue disorder, probably autosomal dominant, with variable expressivity is concluded.
Subject(s)
Ehlers-Danlos Syndrome/pathology , Adolescent , Child , Connective Tissue/pathology , Ehlers-Danlos Syndrome/genetics , Humans , Intellectual Disability/genetics , Male , Microscopy, Electron , Progeria/genetics , Skin/ultrastructureSubject(s)
Chromosome Aberrations , Chromosomes, Human, 16-18 , Adolescent , Female , Humans , Karyotyping , PhenotypeSubject(s)
Metacarpus/abnormalities , Toes/abnormalities , Adult , Chromosome Aberrations/genetics , Chromosome Disorders , Female , Genes, Dominant , Humans , Infant, Newborn , SyndromeSubject(s)
Epilepsy/genetics , Intellectual Disability/genetics , Nose/abnormalities , Child , Female , Genes, Recessive , Humans , Male , Pedigree , SyndromeSubject(s)
Fingers/abnormalities , Keratoderma, Palmoplantar/genetics , Adolescent , Adult , Female , Genes, Dominant , Humans , Male , Pedigree , Phenotype , SyndromeSubject(s)
Ehlers-Danlos Syndrome/genetics , Adolescent , Genes, Dominant , Humans , Intellectual Disability/genetics , MaleABSTRACT
Keratosis palmaris et plantaris and clinodactyly of the 5th finger was diagnosed in 11 members of a family with a typical pattern of autosomal dominant inheritance. It is concluded that both traits are probably the expression of a single mutant gene (p less than 0.001).
Subject(s)
Fingers/abnormalities , Genes, Dominant , Keratoderma, Palmoplantar/genetics , Child , Humans , Hyperhidrosis/genetics , Male , Mutation , PedigreeABSTRACT
Two unrelated males presented a distinct syndrome, consisting mainly of mental retardation, short stature, wrinkled facies, curly and fine hair, scanty eyebrows and eyelashes, telecanthus, periodontitis, hypermobility of the joints, hyperextensibility and fragility of the skin, multiple nevi, papiraceous scars, bruisability, varicose veins, pectus excavatum, winged scapulae, pes planus and bilateral cryptorchidism. Since some features were typical of Ehlers-Danlos Syndrome (EDS), the clinical data were analyzed comparatively with the different types of EDS. The individualization of a distinct variant is concluded. Increased paternal age at the birth of both cases suggests a de novo dominant mutation.
