Tuberous sclerosis complex in a young woman diagnosed incidentally on the basis of pregnancy ultrasonography

Tuberous sclerosis complex (TSC) is more prevalent than previously believed and most cases result from new mutations and, hence, do not have affected relatives. Many patients who meet the new diagnostic criteria have unrecognized skin lesions and/or occult lesions in internal organs. As early diagnosis and appropriate intervention can reduce morbidity and mortality from the neurologic. renal, and pulmonary complications of TSC, physicians should be alert for the dermatological signs of the condition and for the incidental finding of TSC lesions during diagnostic testing. Patients with TSC may be asymptomatic and of normal intelligence. We report a case of TSC diagnosed by the incidental finding of renal lesions in a young woman during pregnancy ultrasonic examination.     

Folk pharmaceutical knowledge in the territory of the Dolomiti Lucane, inland southern Italy

An ethnopharmacognostic survey on the traditional pharmaceutical knowledge (TPhK) of old and newly introduced natural remedies used for healing humans in a small mountainous area in Central Lucania, inland southern Italy, was carried out using classical ethnographical and ethnobiological methods. Approximately 110 remedies of plant origin (belonging to 103 botanical taxa), 30 of animal origin and 20 mineral or industrial (non-pharmaceutical) products were recorded. Among these remedies, the common use of the aerial parts of Hypericum hircinum and the leaves of Morus alba against cough, and the uncommon uses of Salvia argentea leaves as a haemostatic, of Erigeron acer roots to relieve tooth-aches and arthritic pains, and Elaphe quatuorlineata snake fat for rheumatism are reported for first time in Italy. Moreover, diverse medicinal plants used for uncommon medical purposes and a few biological ingredients used in food preparations with the aim to improve human health were identified. Pharmacological and toxicological considerations relating to possible applications of the recorded traditional knowledge in modern evidence-based medicine are discussed as well. The data that we present here could suggest new inputs for further phytochemical and pharmacological studies among Mediterranean folk pharmacopoeias, and also for sustaining environmentally integrated projects focused on of the maintenance of TPhK via breeding or controlled gathering activities of local medicinal species.     

Array comparative genomic hybridization analysis of genomic alterations in breast cancer subtypes

In this study, we performed high-resolution array comparative genomic hybridization with an array of 4153 bacterial artificial chromosome clones to assess copy number changes in 44 archival breast cancers. The tumors were flow sorted to exclude non-tumor DNA and increase our ability to detect gene copy number changes. In these tumors, losses were more frequent than gains, and gains in 1q and loss in 16q were the most frequent alterations. We compared gene copy number changes in the tumors based on histologic subtype and estrogen receptor (ER) status, i.e., ER-negative infiltrating ductal carcinoma, ER-positive infiltrating ductal carcinoma, and ER-positive infiltrating lobular carcinoma. We observed a consistent association between loss in regions of 5q and ER-negative infiltrating ductal carcinoma, as well as more frequent loss in 4p16, 8p23, 8p21, 10q25, and 17p11.2 in ER-negative infiltrating ductal carcinoma compared with ER-positive infiltrating ductal carcinoma (adjusted P values < or = 0.05). We also observed high-level amplifications in ER-negative infiltrating ductal carcinoma in regions of 8q24 and 17q12 encompassing the c-myc and c-erbB-2 genes and apparent homozygous deletions in 3p21, 5q33, 8p23, 8p21, 9q34, 16q24, and 19q13. ER-positive infiltrating ductal carcinoma showed a higher frequency of gain in 16p13 and loss in 16q21 than ER-negative infiltrating ductal carcinoma. Correlation analysis highlighted regions of change commonly seen together in ER-negative infiltrating ductal carcinoma. ER-positive infiltrating lobular carcinoma differed from ER-positive infiltrating ductal carcinoma in the frequency of gain in 1q and loss in 11q and showed high-level amplifications in 1q32, 8p23, 11q13, and 11q14. These results indicate that array comparative genomic hybridization can identify significant differences in the genomic alterations between subtypes of breast cancer.     

Ischemic stroke after using over the counter products containing ephedra

Dietary supplements containing Ephedra used for weight loss and physical performance enhancement such as "herbal ecstasy" are widely available, and it is estimated that at least 1% of the adult population have taken these products. Ephedra products including Ephedra alkaloids such as phenylpropanolamine or other ephedrine compounds are sold under different names such as Metabolife 356, Ripped Fuel, Thermadrene, and Shape-Fast Plus. Over 2 years, five patients with ischemic infarctions associated with use of Ephedra products were evaluated at Indiana University Hospital. Ephedrine, like other sympathomimetic agents, predisposes patients to both ischemic and hemorrhagic strokes. People who take over the counter Ephedra products that claim to boost weight loss, increase energy, or bolster physical performance are at risk of adverse events including ischemic and hemorrhagic strokes.     

Development of displacement binding and GTPgammaS scintillation proximity assays for the identification of antagonists of the micro-opioid receptor

This article describes the development of micro-opioid receptor (MOR) binding and GTPgammaS functional SPAs as improved screening tools for the identification of MOR antagonists. Opioid receptors are members of the seven-transmembrane G protein-coupled receptor (GPCR) family and are involved in the control of various aspects of human physiology, including pain, stress, reward, addiction, respiration, gastric motility, and pituitary hormone secretion. Activation of the MOR initiates intracellular signaling pathways leading to a reduction in intracellular cyclic AMP levels, inhibition of calcium channels, and activation of potassium channels resulting in a reduction of the excitability of neurons. Characterization of opioid receptor ligand binding has traditionally been accomplished through the use of low throughput filtration-based binding assays, whereas functional activity has been based upon cyclic AMP measurements or filtration-based GTPgammaS functional assays. This report describes the development of a MOR displacement binding SPA using the radiolabeled antagonist [(3)H]diprenorphine ((3)H-DPN). The assay was optimized using statistical experimental design and demonstrates the stability and robustness necessary for HTS. The assay was biased toward the identification of MOR antagonists through the addition of Na(+). Our assay conditions also minimized the phenomenon of ligand depletion, a problem commonly observed in low-volume assays using high receptor-expressing cell lines. The optimized procedure revealed (3)H-DPN affinity constants at the MOR that were consistent with results obtained using filtration methods (K(D) (SPA) = 1.89 +/- 0.24 nM, K(D) (filtration) = 1.88 +/- 0.35 nM). The binding SPA identified known opioid receptor modulators contained within the Library of Pharmacological Active Compounds (LOPAC) cassette, and the GTPgammaS scintillation proximity assay (SPA) was used to confirm the functional activity of the LOPAC antagonists acting at the MOR. Conversion of the ligand binding and GTPgammaS functional assays to a homogeneous SPA generated a simple assay with dramatically increased throughput. Data from the development and implementation of the displacement binding and GTPgammaS functional SPAs are presented.     

Extended access to amphetamine self-administration increases impulsive choice in a delay discounting task in rats

Background  

d-Amphetamine (AMPH) is a widely prescribed attention deficit hyperactivity disorder medication, but little is known about its effects on impulsive choice with escalated use.     

A narrative review on women and cardiac rehabilitation: Program adherence and preferences for alternative models of care

Despite the preponderance of evidence on the numerous benefits of CR, it remains largely under-utilized in women. The objective of this narrative review was to summarize and synthesize the literature on women and CR with regard to outcomes, adherence, and preferences for alternative models of CR. Studies of the effectiveness of CR have generally revealed no major differences between men and women. However, female-specific data are lacking on the effect of CR on mortality and morbidity. Research suggests that women and men may be equally likely to prefer home-based to hospital-based CR services. Women's preferences for and outcomes in, women-only CR are beginning to be uncovered. Discussing program model options with female cardiac patients and referring to preferred types may be the appropriate approach until further evidence is available.