Alzheimer's disease: recent progress and prospects--Part I.
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Age of Onset↗
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Results for “imaging genetics”
Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.
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Drug addiction: a general review of new concepts and future challenges.
Relevant papers published in peer reviewed journals in the past 2 decades were identified and screened to abstract pertinent information. Substance dependence/addiction, involving both a common brain reward mechanism and longer-lasting molecular and cellular changes, is a preventable chronic, relapsing brain disease and as such a public health problem. Physical and psychological dependence, characterized by withdrawal syndrome, are now given less weight compared with compulsive behaviour and uncontrolled use of drugs in the comprehension of addiction. The challenging components of drug addictions, including counteradaptation, sensitization, abstinence, craving and relapse need further neurobiological and non-neurobiological exploration and understanding, which may be possible through the use of advanced imaging and genetic techniques and animal models of drug addiction together with relevant human studies.
Adaptation, Physiological↗
[REPORT OF A SPORADIC CLINICAL CASE OF CRANIOFACIAL DYSOSTOSIS OR CROUZON'S DISEASE].
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Atrophy↗
Ethical issues for cancer screening.
In recent years medical ethics has become an undisputed part of medical studies. Many people believe that modern advances in medical technology - such as the development of dialysis machines, respirators, magnetic resonance imaging and genetic testing and types of cancer screenings - have created bioethical dilemmas that confront physicians in the 21st century. Debates over research and screening ethics have until recently revolved around two related questions: the voluntary, informed consent of subjects, and the appropriate relationship between risk and benefit to subjects. Every patient has a right to full and accurate information about his or her medical condition. This legal principle arose primarily through court decisions concerning informed consent, but over time physicians recognized that most patients prefer to learn the truth about their condition and use the information well. To screen is to search for disease in the absence of symptoms or, in other words, to attempt to find disease in someone not thought to have a disease. Examples of screening include routine mammography to detect breast cancer, routine pap smears to detect cervical cancer, and routine Prostate Specific Antigen (PSA) testing to detect prostate cancer. Ethical principles to be followed in cancer screening programmes are intended mainly to minimize unnecessary harm for the participating individuals. Numerous ethical questions can be raised about the practice of screening for disease. Here, we examine four leading cancer killers worldwide and we review the screening of protocols of these cancer types and their possible ethics.
Ethics, Medical↗
[Hereditary renal cell carcinoma: results and place of conventional conservative surgery].
OBJECTIVES: To report the results of conservative surgery for the treatment of hereditary renal cell carcinoma (RCC) and to define its place with respect to new less invasive treatment options. MATERIAL AND METHOD: Over a period of 14 years, 30 women and 26 men were operated for one or several hereditary RCC, either by radical nephrectomy or nephron-sparing excision, via a lumbar or subcostal incision, when the diameter of at least one RCC was greater than 2.5 cm. RESULTS: 92 operations were performed: 62 local excisions and 30 nephrectomies. The TNM stage was: 75 pT1, 14 pT2, 3 pT3b; 4 N+; 3 M+. 26 patients (46%) were operated at least twice. Two or more RCC were resected in 43 cases (47%). In the case of nephron-sparing surgery, mean blood loss was 175 +/- 231.7 cc (range: 50-1300 cc); mean pedicle clamping time (97% of cases) was 32 +/- 10.4 min (range: 10-50 min); mean preoperative serum creatinine was 85 +/- 18 micromol/L (range: 52-150 micromol/L) and mean postoperative serum creatinine was 105 +/- 80 micromol/L (range: 59-576 micromol/L); the calculated tumour recurrence rate was 24% at 5 years and 80% at 8 years; overall 5-year survival was 100% and overall 10-year survival was 67%. The median follow-up was 55.9 months. CONCLUSION: When hereditary RCCs are situated between 2.5 cm and 6 cm in diameter, nephron-sparing surgery is the reference treatment. Modern imaging and genetic screening should allow early detection of increasingly smaller RCCs. In the future, less invasive treatment options could replace surveillance for RCCs less than 2 cm and eventually reduce the indications for local excision.
Adolescent↗
Angiogenesis -- SMi conference.
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Angiogenesis Inhibitors↗
American Association of Clinical Endocrinologists Medical Guidelines for clinical practice for the evaluation and treatment of hypogonadism in adult male patients--2002 update.
In these clinical practice guidelines, specific recommendations are made for determining the most effective methods of diagnosing and treating hypogonadism in adult male patients. The target populations for these guidelines include the following: (1) men with primary testicular failure requiring testosterone replacement (hypergonadotropic hypogonadism); (2) male patients with gonadotropin deficiency or dysfunction who may have received testosterone replacement therapy or treatment for infertility (hypogonadotropic hypogonadism); and (3) aging men with symptoms relating to testosterone deficiency who could benefit from testosterone replacement therapy. Initial hormonal evaluation generally consists of a testosterone determination, in conjunction with a free testosterone or sex hormone-binding globulin level, inpatients with clear symptoms and signs but normal-range total testosterone, follicle-stimulating hormone, luteinizing hormone, and prolactin levels. Other possible tests include semen analysis, pituitary imaging studies, genetic studies, bone densitometry, testicular ultrasonography,testicular biopsy, and specialized hormonal dynamic testing. Therapeutic options generally consist of testosterone replacement by injections, patches, or topically applied gel in hypergonadotropic patients and in hypogonadotropic patients not interested in fertility. In hypogonadotropic patients interested in fertility, gonadal stimulation option scan be considered, including human chorionic gonadotropin stimulation therapy with or without human menopausal gonadotropin (or follicle-stimulating hormone) or gonadotropin-releasing hormone pump therapy. These therapies may be combined with assisted reproductive technologies such as in vitro fertilization with intracytoplasmic sperm injection, which may allow pregnancy to occur with very low numbers of sperm.
Adult↗
[Bipolarity: from manic-depressive disease to bipolar disorder].
Until recently, bipolar disorder was viewed as a relatively rare condition characterized by periods of euphoric excitement and depressive retardation which was easy to diagnose, and easy to treat thanks with lithium and new prophylactic treatments. In fact, bipolar disorder encompasses a variety of conditions, whose overall lifetime prevalence in the general population may be between 5 and 8%. Long term with lithium and other compounds are very effective but must be combined with non pharmacological therapies. Over the past two decades, advances in genetic, brain imagings, and biochemical have improved our knowledge on the pathophysiological mechanisms underlying these disorders.
Bipolar Disorder↗
Pulmonary lymphangiectasia.
Congenital pulmonary lymphangiectasia (PL) is a rare developmental disorder involving the lung and is characterized by pulmonary subpleural, interlobar, perivascular, and peribronchial lymphatic dilatation. Both frequency and etiology are unknown. PL presents at birth with severe respiratory distress, tachypnea, and cyanosis, with a very high mortality rate at or within a few hours of birth. At birth, mechanical ventilation and pleural drainage are nearly always necessary to obtain a favorable outcome of respiratory distress. Home supplemental oxygen therapy and symptomatic treatment of recurrent cough and wheeze are often necessary during childhood, sometimes associated to prolonged pleural drainage. Recent advances in intensive neonatal care have changed the previously nearly fatal outcome of PL at birth. Patients affected by PL who survive infancy present medical problems which are characteristic of chronic lung disease.
Diagnosis, Differential↗
Diagnosis and staging of bladder cancer.
The need for prompt diagnosis and accurate staging of bladder cancer cannot be over-emphasized, as delays in diagnosing the tumor are clearly associated with a poor prognosis. Accurate staging using the American Joint Committee system is essential if clinicians are to compare the results of different therapies.
Biopsy↗
[PanIN classification system and precursors to pancreatic cancer].
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Diagnosis, Differential↗
Prevention and management of strokes in patients with sickle cell disease.
Overt strokes occur in about 11% of children with sickle cell disease, and many more develop silent infarcts. Until recently, the only available management intervention was the use of chronic transfusions to prevent stroke recurrence. The stroke prevention trial in sickle cell anemia (STOP) demonstrated that children at risk for strokes can be identified by transcranial Doppler (TCD) ultrasonography. In high-risk patients, the risk of first stroke can be decreased by 90% if patients are placed on chronic transfusion regimens. However, transfusing all patients with abnormal TCD is also problematic; as many as 60% do not seem to develop a stroke. At this time, a more precise stratification of stroke risk based on imaging studies, genetic studies, and neuropsychological testing is needed. Moreover, the development of alternatives to chronic transfusions, such as hydroxyurea and other pharmacologic therapies, may also improve the outlook for patients at high risk for stroke.
Adolescent↗
[Detection and evaluation of data in perinatal diagnosis using a personal computer].
Imaging, biochemical, genetic, clinical, histological, cytological and morphological examinations methods are practised in perinatal diagnostics. We propose a system of data registration and processing using a personal computer regarding both prenatal therapeutic measures. Data are collected as data store "perinatal diagnostic" which may be expanded prospectively at any time.
Female↗
[Medullary thyroid cancer--screening].
It is possible to screen for medullary thyroid cancer (MTC) with biochemical tests, imaging and genetic testing in families with multiple endocrine neoplasia type 2. The recommendation is based on a consensus statement made by the Members of the European Community concerted action for MTC. The prognostic characteristics are based on 117 patients with MTC diagnosed in Denmark between 1970-1991. Twenty percent of all MTC patients were members of families with two or more thyroid cancer patients. More than half of all MTC patients had neck lymph node involvement at the time of diagnosis. The frequency of neck lymph node involvement was however only 20% amongst those with familiar MTC.
Carcinoma, Medullary↗
Postnatal development of the optic nerve in (C57BL x CBA)F1 hybrid mice: general changes in morphometric parameters.
A morphometric analysis of the optic nerve in different age groups of (C57BL x CBA)F1 hybrid mice was carried out. Morphometric parameters examined were mean nerve cross-sectional area (csa), mean myelinated nerve fibre count, mean myelinated nerve fibre density and myelinated nerve fibre size distribution. The findings revealed that the optic nerve continues to develop well into adult life. Growth in calibre was very rapid during the early stage of postnatal life, but progressively slowed with age thereafter. No myelinated nerve fibres were observed before the 5th day of postnatal life. Similarly, once myelination was initiated, it progressed very rapidly during the early stage of postnatal development and, as for the csa, it slowed thereafter. Peak level of myelination within the optic nerve, which corresponded with the age when the maximum number of myelinated nerve fibres, i.e. 94213 +/- 1799 (S.E.M.) was measured, occurred at the 16th week of postnatal life. The earliest myelinated nerve fibres seen were predominantly large in diameter, but with increasing age, fibres of smaller diameter dominated the myelinated nerve fibre spectrum in the nerve. The highest mean myelinated nerve fibre density was observed in mice at the age of peak myelination.
Animals↗
2-D array formation of genetically engineered viral cages on au surfaces and imaging by atomic force microscopy.
The preparation and subsequent imaging of a two-dimensional array of a genetically and chemically modified cowpea chlorotic mottle virus (CCMV) is described. The genetic mutation provides symmetrically dispersed exposed thiol groups on the outer surface of the virus capsid. These functional groups can be used to covalently bind the capsid to smooth Au substrate. AFM imaging suggests that the genetic mutation by itself does not promote array formation but, rather, aggregation through disulfide linkages. However, breaking the symmetry of the capsid using a solid-phase approach and chemically passivating the exposed thiol groups with iodoacetic acid results in a capsid with exposed thiols only on one side of the particle. These symmetry-broken capsids were able to form self-assembled monolayers (SAM) on a Au surface.
Alanine↗
Identification of D-peptide ligands through mirror-image phage display.
Genetically encoded libraries of peptides and oligonucleotides are well suited for the identification of ligands for many macromolecules. A major drawback of these techniques is that the resultant ligands are subject to degradation by naturally occurring enzymes. Here, a method is described that uses a biologically encoded library for the identification of D-peptide ligands, which should be resistant to proteolytic degradation. In this approach, a protein is synthesized in the D-amino acid configuration and used to select peptides from a phage display library expressing random L-amino acid peptides. For reasons of symmetry, the mirror images of these phage-displayed peptides interact with the target protein of the natural handedness. The value of this approach was demonstrated by the identification of a cyclic D-peptide that interacts with the Src homology 3 domain of c- SRC. Nuclear magnetic resonance studies indicate that the binding site for this D-peptide partially overlaps the site for the physiological ligands of this domain.
Amino Acid Sequence↗
Genetic and spectrally distinct in vivo imaging: embryonic stem cells and mice with widespread expression of a monomeric red fluorescent protein.
BACKGROUND: DsRed the red fluorescent protein (RFP) isolated from Discosoma sp. coral holds much promise as a genetically and spectrally distinct alternative to green fluorescent protein (GFP) for application in mice. Widespread use of DsRed has been hampered by several issues resulting in the inability to establish and maintain lines of red fluorescent protein expressing embryonic stem cells and mice. This has been attributed to the non-viability, or toxicity, of the protein, probably as a result of its obligate tetramerization. A mutagenesis approach directing the stepwise evolution of DsRed has produced mRFP1, the first true monomer. mRFP1 currently represents an attractive autofluorescent reporter for use in heterologous systems. RESULTS: We have used embryonic stem cell-mediated transgenesis to evaluate mRFP1 in embryonic stem cells and mice. We find that mRFP1 exhibits the most spatially homogenous expression when compared to the native (tetrameric) and variant dimeric forms of DsRed. High levels of mRFP1 expression do not affect cell morphology, developmental potential or viability and fertility of animals. High levels of widespread mRFP1 expression are maintained in a constitutive manner in embryonic stem cells in culture and in transgenic animals. We have used various optical imaging modalities to visualize mRFP1 expressing cells in culture, in embryos and adult mice. Moreover co-visualization of red, green and cyan fluorescent cells within a sample is easily achieved without the need for specialized methodologies, such as spectral deconvolution or linear unmixing. CONCLUSION: Fluorescent proteins with excitation and/or emission profiles in the red part of the visible spectrum represent distinct partners, or longer wavelength substitutes for GFP. Not only do DsRed-based RFPs provide a genetically and spectrally distinct addition to the available repertoire of autoflorescent proteins, but by virtue of their spectral properties they permit deeper tissue imaging. Our work in generating CAG::mRFP1 transgenic ES cells and mice demonstrates the developmental neutrality of mRFP1 in an organismal context. It paves the way for the use of DsRed-based monomeric RFPs in transgenic and gene targeted approaches which often necessitate spatially and/or temporally restricted reporter expression. Moreover animals of the CAG::mRFP1 transgenic strain serve as a source of RFP tagged tissue for the derivation of cell lines and explant, transplant and embryo chimera experiments.
Animals↗