ABSTRACT
Mitochondrial oxidative phosphorylation (OXPHOS) disorders are a heterogeneous group of diseases with variable expression that often pose diagnostic dilemmas. Although definitive diagnosis of these disorders usually requires a muscle biopsy and mtDNA and enzymatic testing, standard metabolic studies including organic acid and amino acid analysis often provide useful findings that support an OXPHOS disease and the need for more invasive studies. In addition, the detection of possible metabolic derangements, such as elevated lactate levels, may lead to improved long-term outcomes for affected patients through the use of various treatment regimens. Similarly, long-term yearly monitoring of diagnosed OXPHOS patients with metabolic testing is also warranted.
Subject(s)
Mitochondrial Diseases/diagnosis , Mitochondrial Diseases/metabolism , Education, Medical, Continuing , Humans , Mass ScreeningABSTRACT
We report a clinically heterogeneous, multigenerational pedigree with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) associated with a mutation at nucleotide 3243 in the mitochondrial DNA tRNA(Leu)(UUR) gene. Our findings suggest that the mutation at nucleotide 3243 is not always associated with the classic MELAS phenotype and that other symptoms (notably cardiac and gastrointestinal abnormalities) should raise the suspicion of a mitochondrial disorder.
Subject(s)
DNA, Mitochondrial/genetics , Deoxyribonucleases, Type II Site-Specific/genetics , MELAS Syndrome/genetics , RNA, Transfer, Leu/genetics , Adolescent , Humans , Male , Mutation , Pedigree , Polymerase Chain Reaction , RecurrenceSubject(s)
Abscess/microbiology , Kidney Diseases/microbiology , Staphylococcal Infections/diagnosis , Abscess/diagnosis , Abscess/therapy , Combined Modality Therapy , Dicloxacillin/therapeutic use , Drainage , Drug Therapy, Combination/therapeutic use , Humans , Infant, Newborn , Kidney Diseases/diagnosis , Kidney Diseases/therapy , Male , Nafcillin/therapeutic use , Staphylococcal Infections/therapy , Staphylococcus aureus/isolation & purificationABSTRACT
The present study compared 15 mothers on methadone maintenance (MM) and their 15 preschool children to 15 non-drug-addicted mothers (NDA) and their 15 preschool children on mothers' personalities and parenting attitudes, the mother-child interaction, and on children's intelligence and developmental levels. Findings showed that in comparison to the control group, MM mothers performed less adaptively on measures of personality and parenting behavior. There were no differences between the two groups of mothers on their parenting attitudes. Children of MM mothers performed more poorly than children of NDA mothers on measures of intelligence, development, and socially adaptive behavior.
