ABSTRACT
The XYY syndrome presents with a wide variation in the clinical features, both of the physical and behavioral nature. We report two new cases which illustrate this statement. The first case presented with aggressive behaviour and cryptorchidism. The second case was associated with pathological short height, pubertal delay and cardiac features (extrasystoles and short PR interval). We revise some of the aspects of XYY syndrome.
Subject(s)
Sex Chromosome Aberrations/genetics , XYY Karyotype/genetics , Adolescent , Aggression , Body Height , Cardiac Complexes, Premature , Child , Cryptorchidism , Humans , Hyperkinesis , Male , Polymorphism, Genetic , Puberty, Delayed , Sex Chromosome Aberrations/physiopathology , Sex Chromosome Aberrations/psychology , SyndromeABSTRACT
A study was made of the HLA in 41 children between the ages of 4 and 13 years, with the parasite Giardia lamblia, of ages between 4 and 13 years. The different histocompatibility antigens were compared in relationship to the clinical and analytical aspects of the patients. Individuals with HLA A1 and/or blood group A have a greater probability of contracting this parasite. Other relationships found were HLA A19 and vomiting. HLA A9 and abdominal pain and HLA B7 with alterations in the gastrointestinal mucous.
Subject(s)
Giardiasis/parasitology , HLA Antigens/immunology , Child , Child, Preschool , Female , Giardiasis/immunology , Humans , Infant , MaleABSTRACT
We report three patients presenting symptoms of tetany at eleven months, five years and seven years. They had hypocalcemia hypomagnesemia, hyperphosphatemia and elevated phosphate tubular reabsorption. PTH serum levels were decreased and cAMP urinary excretion was very low. Clinical and biological findings suggest hypoparathyroidism, but due to peculiar phenotype of one patient differential diagnosis is established.
Subject(s)
Calcium/analysis , Cyclic AMP/urine , Hypoparathyroidism/metabolism , Magnesium/blood , Phosphorus/analysis , Child , Diagnosis, Differential , Female , Humans , Hypoparathyroidism/diagnosis , Hypoparathyroidism/drug therapy , Infant , Male , Parathyroid Hormone/deficiency , Parathyroid Hormone/therapeutic use , Pseudohypoparathyroidism/diagnosis , Vitamin D/therapeutic useABSTRACT
A Von Willebrand's disease associated to Von Recklinghausen's disease is described. A an common alteration in the mesenchima is suggested as pathogenic mechanism. DDAVP was used as supportive treatment for bleeding, in preparation for surgery.
Subject(s)
Neurofibromatosis 1/complications , Skin Neoplasms/complications , von Willebrand Diseases/complications , Blood Vessels/embryology , Child , Endothelium/embryology , Female , Humans , Neurofibromatosis 1/embryology , Skin Neoplasms/embryology , Strabismus/complications , von Willebrand Diseases/embryologyABSTRACT
Proximal and distal renal tubular acidification function has been studied in ten epileptics treated with phenobarbital and hydantoins. Plasma concentration of 25 OH D3 and urinary excretion of adenosine 3':5'-cyclic phosphate (cAMP) were also determined. Serum parathormone (PTH) was analyzed in five patients. Four of these ten patients showed a decreasing threshold for bicarbonates, suggesting a disturbance of the proximal tubular acidification function. These patients did not show diminishing plasma levels of 25 OH D3, and according to the results of cAMP and PTH determinations a hyperparathyroidism could be ruled out. Anticonvulsants lead to a disturbance of the renal acidification which is not derived from alterations of the phosphocalcic metabolism.
Subject(s)
Acidosis, Renal Tubular/chemically induced , Hydantoins/adverse effects , Phenobarbital/adverse effects , Adolescent , Adult , Epilepsy/drug therapy , Humans , Middle AgedABSTRACT
A patient with precoucious puberty, caused by the secretion of ecthopic gonadotrophin, due to a teratoma of mediastinal localization accompanied by cellular immunodeficiency is described. A review of literature several cases have been from different hospitals, showing a low frequency of the intrathoratic localization of these teratomas and it is exceptional functional characteristics is made.
Subject(s)
Gonadotropins, Pituitary/metabolism , Mediastinal Neoplasms/metabolism , Puberty, Precocious/etiology , Teratoma/metabolism , Child , Humans , Immunity, Cellular , Male , Mediastinal Neoplasms/complications , Mediastinal Neoplasms/immunology , Teratoma/complications , Teratoma/immunologyABSTRACT
Two patients affected with Alport's syndrome belonging respectively to two families with a high incidence of urinary, auditive and ocular symtoms, are described. The most relevant features are commented pointing out that Alport's syndrome could be a structural malformation of the whole or only one part of a type of colagen probably specific of the basal membrane of the glomerulus which could be more easily affected forming toxic metabolites. Finally a reference to the histologic study is made.
