Ehlers-Danlos syndrome type VI: clinical manifestations of collagen lysyl hydroxylase deficiency

We reviewed the clinical findings in 10 patients with lysyl hydroxylase deficiency (Ehlers-Danlos syndrome type VI) and report here the range of clinical severity in these patients. The distinctive feature common to all patients was muscle hypotonia with joint laxity in the newborn period, and moderate to severe kyphoscoliosis either was present or developed in almost all patients. Most patients also had some degree of skin abnormality observed in other types of Ehlers-Danlos syndrome: bruisability, abnormal scarring, and soft, distensible skin. These patients also are at risk for potentially catastrophic arterial rupture.     

Neonatal vocal cord paralysis following extracorporeal membrane oxygenation

Five cases of unilateral vocal cord paralysis/paresis were diagnosed following extracorporeal membrane oxygenation for newborn respiratory failure. All were right sided and transient in nature. None of the five patients had other findings commonly associated with vocal cord palsy. The extracorporeal membrane oxygenation procedure requires surgical dissection in the carotid sheath on the right side of the neck, an area immediately adjacent to both the vagus and recurrent laryngeal nerve. It is speculated that vocal cord paralysis in these infants was acquired as a result of the extracorporeal membrane oxygenation cannulation. Although the vocal cord paralysis resolved in all cases, two patients had difficult courses after extracorporeal membrane oxygenation. Therefore, laryngoscopic examination should be considered for patients after extracorporeal membrane oxygenation.     

The effect of social learning intervention on metabolic control of insulin-dependent diabetes mellitus in adolescents

This paper reports the results of an experimental study modeled after a study conducted by Kaplan et al. The hypothesis tested was: Adolescents who receive a social learning intervention (SLI) will show greater improvement in metabolic control of their diabetes than will adolescents who receive only traditional diabetes instruction. Thirty-four adolescents between the ages of 12 and 16 who attended a midwestern camp were randomly divided into two groups. Both groups attended a daily 1-hour teaching session about diabetes. Later each day, the experimental group received an SLI consisting of role modeling to help the subjects circumvent peer pressure. To determine metabolic control, HbA1 values were determined before and 3 1/2 months after the intervention. The control group showed no significant difference in HbA1 values, while the experimental group showed a decrease in metabolic control.     

Balloon angioplasty in acute and chronic coronary artery disease

Percutaneous transluminal coronary angioplasty has grown exponentially since its introduction. Currently, selection criteria include single-vessel and multivessel disease, stable and unstable angina, and acute infarction. The outcome depends on specific patient and angiographic characteristics. In ideal lesions, success rates should be greater than 90%, with low morbidity and mortality. With more severe and diffuse multivessel disease, success rates are lower and complication rates are higher. In these cases, percutaneous transluminal coronary angioplasty still offers a reasonable option, provided complete revascularization can be achieved or the angina-producing lesion dilated. Numerous issues remain unresolved, including (1) the role of percutaneous transluminal coronary angioplasty vs coronary surgery (currently being tested), (2) restenosis, which occurs in approximately 30% of treated lesions, and (3) organizational adjustments such as training and certification to maintain high standards of care.     

3H]Ro 19-6327: a reversible ligand and affinity labelling probe for monoamine oxidase-B

This study demonstrated the existence of specific binding sites for [3H]Ro 19-6327 in human platelet membranes. This compound is a novel, time-dependent inhibitor of monoamine oxidase type B (MAO-B) and is structurally closely related to [3H]Ro 16-6491. The density of the sites labelled with high affinity by [3H]Ro 19-6327 was similar to that observed in previous studies with [3H]Ro 16-6491 as ligand. Binding was reversible at 20 degrees C and showed a relatively slow dissociation (t1/2 = 220 min). The dissociation rate was markedly decreased (t1/2 = greater than 24h) at 0 degrees C. MAO-B, but not MAO-A inhibitors, effectively prevented the binding of [3H]Ro 19-6327. Like [3H]Ro 16-6491, [3H]Ro 19-6327 is recognized as a substrate by MAO-B, being eventually deaminated by the enzyme. Since the deaminated aldehyde derivative of Ro 19-6327 did not inhibit MAO-B, a still unidentified reversible adduct, formed at the MAO-B active site, might explain the high potency and selectivity of [3H]Ro 19-6327. Incubation of the radioligand-enzyme complex from platelet and brain membranes with NaBH3CN and acetic acid (to pH 4.5) caused the irreversible incorporation of the radioactivity into a single polypeptide as shown by SDS-PAGE analysis. This polypeptide had a molecular weight identical to that of the MAO-B subunit, i.e. 58,000. The presence of unlabelled MAO-B inhibitors in the incubation mixture prevented the covalent incorporation of [3H]Ro 19-6327. The irreversible MAO-B inhibitor, [3H] pargyline, labelled a protein with a molecular weight identical to the protein labelled by [3H]Ro 19-6327.(ABSTRACT TRUNCATED AT 250 WORDS)