Subject(s)
Endocarditis, Bacterial/complications , Haemophilus Infections/surgery , Heart Valve Prosthesis , Mitral Valve Insufficiency/surgery , Endocarditis, Bacterial/diagnosis , Female , Haemophilus Infections/complications , Haemophilus Infections/diagnosis , Humans , Infant , Mitral Valve/surgery , Mitral Valve Insufficiency/diagnosis , Mitral Valve Insufficiency/etiologyABSTRACT
Chromosomes of a cell line derived from neuroblastoma metastases were analysed. Ninety-nine percent of the cells had 46 chromosomes, and of 10 cells analysed by G-banding, all had a t(1;10)(p32;q24).
Subject(s)
Bone Marrow/pathology , Chromosomes, Human, Pair 10 , Chromosomes, Human, Pair 1 , Neuroblastoma/genetics , Translocation, Genetic , Child, Preschool , Humans , Karyotyping , Male , Neoplasm Metastasis , Neuroblastoma/pathology , Tumor Cells, CulturedABSTRACT
A simple method of evaluating and treating burn shock has been used with very good results and low mortality. The amounts of fluids given in a specific time and the type of fluids given are dependent upon the evaluation of a few simple observations. We believe that shock is a treatable condition and that 'shock kidney' is preventable. We stress the difficulty of trying to compare the results of two different burn units.
Subject(s)
Burns/complications , Shock, Traumatic/therapy , Blood Transfusion , Child , Humans , Shock, Traumatic/etiology , Shock, Traumatic/urineABSTRACT
Deficient leucocyte sphingomyelinase activity has been demonstrated in a patient with the sea-blue histiocyte syndrome. Family studies revealed that two other cases previously diagnosed on clinical and histochemical criteria also had a pronounced diminution of sphingomyelinase activity. Both parents of the affected individuals were carriers of the disease as indicated by sphingomyelinase activity intermediate between normal and diseased subjects. Additional heteroxygous carriers were found among the siblings and other relatives of the patients. This family study supports further the hypothesis that the sea-blue histiocyte syndrome and chronic Niemann-Pick (Type B) disease are the same.
Subject(s)
Niemann-Pick Diseases/enzymology , Adolescent , Adult , Female , Histiocytes/ultrastructure , Humans , Infant , Leukocytes/enzymology , Male , Microscopy, Electron , Niemann-Pick Diseases/genetics , Niemann-Pick Diseases/pathology , Pedigree , Sphingomyelin Phosphodiesterase/deficiencyABSTRACT
A girl with severe mental retardation and odd facies and some features of the cri-duchat syndrome was found to have only 45 chromosomes. Her karyotype was 45,XX, -5, -14,+der(5) t(5,14)(p15;q13) mat. Her mother and her two sisters were found to be balanced reciprocal translocation carriers having 46 chromosomes, one of which was a very small (14pter leads to 14q13::5p15leads to 5pter) that was missing in the proposita.
Subject(s)
Chromosome Aberrations , Chromosome Deletion , Chromosomes, Human, 13-15 , Chromosomes, Human, 4-5 , Intellectual Disability/genetics , Translocation, Genetic , Child , Female , HumansABSTRACT
A mosaic trisomy 13 presenting as a case of cleft lip and palate in the newborn is described. However, when the child was admitted to hospital at the age of 6 weeks because of failure to gain weight and a malformation of the great vessels was demonstrated, cytogenetic studies were carried out. The diagnosis of mosaic trisomy 13 (90% normal, 10% trisomic) was established from a leukocyte culture. Since, occasionally, mosaic trisomy 13 may mimic cleft lip and palate in the newborn, cytogenetic studies are indicated in the presence of any additional anomaly.
