ABSTRACT
Neonatal Marfan syndrome is a very rare subset of the classical Marfan syndrome with pronounced phenotypic expression especially of the cardiovascular manifestations. It is associated with a very poor prognosis, with approximately 50% of affected infants dying from cardiac failure during the first year of life. We present a newborn with the classical phenotype of neonatal Marfan syndrome. Within few hours after birth, progressive and refractory heart failure developed. Postmortal molecular study revealed an unusually large deletion of exons 24-26 within the so-called neonatal region of the gene FBN1, which might explain the unfavourable course of the disease in our patient.
Subject(s)
Chromosome Deletion , Exons/genetics , Heart Failure/diagnosis , Heart Failure/genetics , Marfan Syndrome/diagnosis , Marfan Syndrome/genetics , Microfilament Proteins/genetics , Disease Progression , Echocardiography , Fatal Outcome , Female , Fibrillin-1 , Fibrillins , Heart Failure/pathology , Humans , Infant, Newborn , Marfan Syndrome/pathology , Myocardium/pathology , Phenotype , Pneumopericardium/diagnosis , Pneumopericardium/genetics , Pneumopericardium/pathology , Pneumothorax/diagnosis , Pneumothorax/genetics , Pneumothorax/pathology , Pregnancy , Prognosis , Pulmonary Atresia/diagnosis , Pulmonary Atresia/genetics , Pulmonary Atresia/pathology , Tricuspid Valve Insufficiency/diagnosis , Tricuspid Valve Insufficiency/genetics , Tricuspid Valve Insufficiency/pathologyABSTRACT
This article is about a 9-year-old boy with known homozygous sickle cell disease who developed unilateral exophthalmia and eyelid swelling during a sickle cell crisis. The symptoms were due to a vaso-occlusive event in the orbital bones,known as orbital compression syndrome, which is a rare complication of sickle cell disease.
Subject(s)
Anemia, Sickle Cell/diagnosis , Arterial Occlusive Diseases/diagnosis , Exophthalmos/diagnosis , Orbital Diseases/diagnosis , Anemia, Sickle Cell/therapy , Anti-Bacterial Agents/therapeutic use , Arterial Occlusive Diseases/therapy , Blood Transfusion , Child , Diagnosis, Differential , Drug Therapy, Combination , Edema/diagnosis , Exophthalmos/therapy , Femur Head Necrosis/diagnosis , Femur Head Necrosis/therapy , Humans , Magnetic Resonance Imaging , Male , Orbit/blood supply , Orbit/pathology , Orbital Diseases/therapySubject(s)
Birds/metabolism , Diet , Hydrocarbons, Chlorinated , Insecticides/analysis , Pesticide Residues/analysis , Age Factors , Animals , Astacoidea , Food ContaminationABSTRACT
Tests were carried out on the influence of alloxan-induced diabetes mellitus on the metabolism and the ultrastructure of ovaries of juvenile rats. The diabetes mellitus caused the following changes in the metabolism: reduction in the concentration of ATP and NADPH, increase in the lactate/pyruvate quotient to above 40, reduction in the ATP/ADP quotient to below 1, reduction in the level of activity of the hydrogen-conveying enzymes G-6-P-dehydrogenase, isocitrate dehydrogenase and malate dehydrogenase, increase in the level of activity of the alkaline phosphatase, reduction of the protein content. Ultrastructure: almost complete disappearance of the rough endoplasmic reticulum, shrinkage of the mitochondria, reduction of the cristae and condensation of the matrix. The smooth endoplasmic reticulum remains unchanged, the extent of the Golgi-complex is reduced. Easy removal of the lipid deposits.
