Anomalous origin of the left coronary artery from the pulmonary artery (Bland-White-Garland syndrome) in a 29-year-old male with absolute tachyarrhythmia]

We report on a man without any symptoms until the age of 29 years when a ventricular tachyarrhythmia occurred for the first time. There were electrocardiographic signs of a previous myocardial infarction of the anterior wall, but there had not even been any episode of angina pectoris. The cause was the anomalous origin of the left coronary artery from the pulmonary trunk (Bland-White-Garland syndrome). Therapy consisted of ligation of the left coronary artery and the implantation of an aortocoronary vein graft to the left coronary artery in order to reinstall a two-coronary system. Diagnosis is easily made by coronary angiography. At a 3-year follow-up there was an increase of the ejection fraction/cardiac output, a stable sinus rhythm, and an improved physical endurance.     

Metabolic interaction between skeletal muscle and liver during bacteremia

To study the effects of bacteremia on skeletal muscle leucine (LEU) metabolism, mongrel dogs were infused with normal saline or Escherichia coli (10(9)/kg). After a bolus dose (3.6 microCi), L(1-carbon 14) LEU (0.3 microCi/min) was infused directly into the isolated, constant-flow, in vivo gracilis muscle. Arteriovenous differences for amino acids, labeled and unlabeled LEU and alpha-ketoisocaproic acid (KIC), and labeled carbon dioxide were measured at ten-minute intervals for one hour. Bacteremia increased the net release of amino acids and total N2 from muscle. Moreover, plasma LEU that was deaminated and released as KIC was increased, and there was also an increase in decarboxylated plasma LEU during bacteremia. Despite the marked increase in KIC release from skeletal muscle during bacteremia, arterial concentrations were not significantly different from those of controls. An unchanged arterial plasma KIC concentration associated with a marked increase in KIC released from skeletal muscle indicates an increase in LEU metabolism, most likely in the liver. Thus, the increased skeletal muscle catabolism is not a futile cycle but rather an essential event to meet the increased metabolic needs of the body during bacteremia.     

Heterotopic cervical salivary gland tissue in a family with probable branchio-otorenal syndrome

Heterotopic cervical salivary gland tissue was found in a 4-yr-old girl with branchial and otologic abnormalities. Her mother and sister also had heterotopic cervical salivary tissue in association with anomalies that suggest the branchio-otorenal (BOR) syndrome. Heterotopic cervical salivary gland tissue may result from abnormal branchial development.     

Large genomic rearrangements in MECP2

In 1999, mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2) were first reported in patients with Rett syndrome (RTT). The MECP2 gene is located at Xq28 and consists of 4 exons. About 80-90 % of the classic RTT patients harbor mutations in the coding region of MECP2, while the molecular cause is unknown in the remaining 10-20%. Several groups have searched for large rearrangements within the MECP2 and the results indicate that a fraction of MECP2-negative RTT cases has large deletions of the MECP2. In this study we have used the Multiplex Ligation-dependent Probe Amplification (MLPA) technique to screen 45 RTT patients, who have previously been tested negative for mutations in the coding region of MECP2. The MECP2-MLPA is a semi-quantitative multiplex PCR approach. It determines the relative number of copies of each MECP2 exon. With this approach we detected seven RTT patients with genomic deletions and further characterized the deletions using real time quantitative PCR (qPCR) and long-range PCR. The seven patients were given a severity score and their X chromosome inactivation profiles were determined in order to identify a possible genotype-phenotype correlation. The results from this study indicate that large deletions in MECP2 cause classic RTT.     

Enzyme Immunoassay Detecting Teichoic and Lipoteichoic Acids versus Cerebrospinal Fluid Culture and Latex Agglutination for Diagnosis of Streptococcus pneumoniae Meningitis

A newly developed enzyme immunoassay (EIA) was used to detect the presence of pneumococcal teichoic and lipoteichoic acids in cerebrospinal fluid (CSF) from patients with Streptococcus pneumoniae meningitis who were being treated with antibiotics. All initial CSF samples, which on culture grew S. pneumoniae, were positive in the EIA. A total of 14 subsequent culture-negative samples gave clear signals in the EIA up to day 15 after the onset of antibiotic treatment. For 11 CSF specimens, culture, microscopy, and latex agglutination were negative while the EIA detected pneumococcal antigens. The EIA did not react either with CSF of patients with meningitis caused by bacteria other than S. pneumoniae or by viral pathogens. In conclusion, this EIA can be a valuable tool for the diagnosis of S. pneumoniae meningitis from CSF samples in cases in which prior antimicrobial therapy minimizes the usefulness of culture or other antigen detection tests.     

Genetic polymorphisms and cerebrospinal fluid levels of tissue inhibitor of metalloproteinases 1 in sporadic Alzheimer's disease

Tissue inhibitor of metalloproteinases 1 (TIMP-1) inhibits several proteinases including a disintegrin and metalloproteinase 10 (ADAM10), a major alpha-secretase that cleaves the beta-amyloid precursor protein within its amyloidogenic Abeta domain. The gene encoding TIMP-1 (TIMP 1) maps to the short arm of the X chromosome, in a region previously suggested as conferring genetic susceptibility for Alzheimer's disease (AD). To determine whether genetic variability of TIMP 1 contributes to the pathogenesis of AD, we analysed one single nucleotide polymorphism within TIMP 1 and one single nucleotide polymorphism in the 5'-untranslated region of TIMP 1 in patients with AD and control subjects from two independent and ethnically different populations. We did not observe any association between TIMP 1 genotypes and the diagnosis of AD in men or women. We also measured TIMP-1 protein levels in the cerebrospinal fluid of patients with AD, healthy control subjects, and patients with other neurological disorders. TIMP-1 levels were similar in all groups. In addition, no significant differences were observed after stratification for TIMP 1 genotypes. Our data show that neither genetic variability nor protein levels of TIMP-1 are associated with AD.     

Amygdala-prefrontal coupling depends on a genetic variation of the serotonin transporter

Major depression is conditionally linked to a polymorphism of the human serotonin transporter gene (SLC6A4). During the presentation of aversive, but not pleasant, pictures, healthy carriers of the SLC6A4 short (s) allele showed stronger activation of the amygdala on functional magnetic resonance imaging. s carriers also showed greater coupling between the amygdala and the ventromedial prefrontal cortex, which may contribute to the abnormally high activity in the amygdala and medial prefrontal cortex seen in major depression.