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[The Holt-Oram syndrome. Entelechy or clinical entity? A mild form of familial presentation].

According to the description made by Holt and Oram in 1960, a wide group of associated skeletal and cardiac malformations was named as syndrome of Holt-Oram. The morpho-anatomic and functional expression of the syndrome are so great in extension, that it is possible to think of several clinical entities with common manifestations; or perhaps, in a common entity with different clinical and functional expressions. Undoubtedly, the interest in the knowledge and diagnostic of the disease is due mainly to the hereditary condition, as demonstrated in a great number of cases, though they had been observed some generations without antecedents, with the possible explanation of genetic mutation. In this paper, are demonstrated the descriptive findings in a patient, male, 32 years old, with the diagnostic of Holt-Oram syndrome, and also the results of the study of the near members of his family. This study allowed to find other affected persons with manifestations that probably can be the result of new mutations. The paper is completed with a wide review of the pertinent bibliography.

Abnormalities, Multiple↗

Vocabulary for use in measurement procedures and description of reference materials in laboratory medicine.

The preparation of written records of measurement procedures and descriptions of reference materials requires order, scientific and practical expertise, exactness, and completeness. Realizing the importance of adequate documentation in science, practice, and industrial development, the European Committee for Standardization (CEN) has drafted two European Standards on the two subjects, presenting the structure and contents of such documents. The standards, however, do not provide guidance to the proper use of quantities, units, equations, numerical values, and terminology. Laboratory workers writing procedures and descriptions of materials have various educational backgrounds, so that it may be difficult to achieve harmonization of presentation and language. The present text provides an overview of structure of such documents (with reference to the CEN standards), some principles of quantities and units, a common vocabulary (based on authoritative international standards and recommendations), 144 named and defined concepts, and an extensive bibliography.

Chemistry, Clinical↗

Epidemiology of research for temporomandibular disorders.

A systematic review was performed in response to a request by the National Institute of Dental Research to evaluate in broad terms the strength of evidence regarding therapy for temporomandibular disorders (TMD). This report describes the epidemiology of research for TMD in broad terms indicating the total number of citations, the proportion related to therapy, and the distribution according to study design and language or country of origin. Medline and hand searching of article bibliographies and of selected journals produced the set of citations evaluated. From 1980 to 1992, there were more than 4,000 references to TMD, of which about 1,200 regarded therapy. Forty-one percent of the 1,200 references were classified as reviews and only 15% were clinical studies. Less than 5% (n = 51) were randomized controlled trials. This review identified a vast amount of literature on TMD with articles published in several different languages, indicating a worldwide interest in this problem. Because assimilation of this literature cannot be expected of the average practitioner treating patients who have TMD, or of most researchers in this area, it is likely not being used to its maximum potential. The literature on therapy for TMD consists primarily of uncontrolled observations of patients such as uncontrolled clinical trials, case series, case reports, and simple descriptions of techniques. It is generally agreed that such uncontrolled observations, while contributing to knowledge about therapy of TMD, are subject to considerable bias and thus difficult to interpret. If treatment of TMD is going to follow the trend in medicine to base patient-care decisions on evidence rather than expert opinion or pathophysiologic rationales, then more rigorously controlled clinical trials of most therapies will be necessary.

Bibliographies as Topic↗

A postmyocardial infarction clinic in Göteborg, Sweden. A follow-up of MI patients in a specialized out-patient clinic.

The registration of all myocardial infarctions (MI) in the city of Göteborg started on Jan. 1st 1968, when a special clinic was set up for ambulatory posthospital care of infarction patients. In 1970 this clinic was expanded to cover all patients below 67 years of age with MI in the city of Göteborg, the aim being to standardize and unify patient care and therapeutic regimens to provide opportunities for the study of patient characteristics, natural history, risk factors and effects of preventive measures. Results from such studies have been published, but so far no unified description of this special out-patient unit, nor of any similar unit elsewhere. Patient recruitment, considerations concerning personnel, patient education procedures and return visit routines are covered, together with investigative methods and criteria for the treatment of complications, symptoms and risk factors. The cumulative drop-out rate up to and including 2 years follow-up was only 3%. A brief bibliography of studies originating at the Postmyocardial Infarction Clinic is included.

Adult↗

Randomized controlled trials in long-term care residents with dementia: a systematic review.

OBJECTIVE: To evaluate the quality of reporting of randomized controlled trials for pharmacologic interventions in long-term care residents with dementia. DATA SOURCES: We performed electronic searches of AMED, CINAHL, E-PSYCHE, Cochrane Controlled Trials Register, and MEDLINE. We also searched the reference lists of included studies and bibliographies of relevant review articles. STUDY SELECTION: All randomized controlled trials for pharmacologic interventions in patients with dementia residing in long-term care facilities. DATA ABSTRACTION: We abstracted data independently, in duplicate, using a data abstraction sheet and a quality checklist. DATA SYNTHESIS: Fifteen trials met inclusion criteria. Five trials lacked institutional ethical review, while two lacked informed consent. Eleven trials gave adequate description of withdrawals and 14 trials reported adverse events adequately. We found incomplete reporting of methods of randomization, allocation concealment, restriction, blinding, sample size estimation and intention-to-treat analysis. Sensitivity analysis indicated that reporting of allocation concealment was associated with increased quality of trial according to the quality scale (P = 0.007). CONCLUSIONS: Clinicians and the public do not have high-quality information to guide pharmacologic decision making for long-term care residents with dementia. The reporting quality is highly variable in the trials reviewed, and concerns exist surrounding the conduct of several trials.

Aged↗

Is combination sulfonylurea and insulin therapy useful in NIDDM patients? A metaanalysis.

OBJECTIVE: To assess the efficacy of combination therapy with insulin and sulfonylurea in the treatment of NIDDM. RESEARCH DESIGN AND METHODS: Studies published between January 1966 and January 1991 were identified through a computerized Medline search and by hand searching the bibliographies of identified articles. We identified 17 eligible randomized, controlled trials of combination therapy in NIDDM. These trials had a minimum duration of 8 wk and at least one of three outcome measures (fasting glucose, HbA1, or C-peptide) with SD or SE of the mean reported to do metaanalysis. With standardized forms, three independent reviews abstracted measures of study quality and specific descriptive information about population, intervention, and outcome measurements. RESULTS: We calculated effect size and weighted mean changes of the three outcome measures for control and treatment groups. In the treatment group, the fasting plasma glucose decreased from a mean of 11.4 mM (206 mg/dl) at baseline to a mean of 9.16 mM (165 mg/dl) posttreatment, whereas the control group decreased from (11.3 to 10.8 mM) (204 to 194 mg/dl) (effect size 0.39, P less than 0.0001). For HbA1, the treatment group decreased from a baseline of 11.0 to 10.2% compared to 11.0 and 11.2% in the control group (effect size 0.43, P less than 0.0001). For fasting C-peptide, the treatment group increased from 0.49 to 0.58 nM (1.45 to 1.75 ng/ml) compared with 0.47 and 0.43 (1.42 and 1.30) for the control group (effect size 0.26, P less than 0.017). CONCLUSION: Combined insulin-sulfonylurea therapy leads to modest improvement in glycemic control compared with insulin therapy alone. With combined therapy, lower insulin doses may be used to achieve similar control. Obese patients with higher fasting C-peptides may be more likely to respond than others.

Blood Glucose↗

Americo Negrette (1924 to 2003): diagnosing Huntington disease in Venezuela.

OBJECTIVE: To elucidate the role of Dr. Americo Negrette in diagnosing and reclassifying the dancing mania in Maracaibo, Venezuela as Huntington disease (HD). METHODS: All of the medical and nonmedical books and articles by Negrette were collected and reviewed. Personal interviews with Negrette were performed to confirm the details of his life and original work. His childhood, medical education, and contribution to HD, as well as contributions to medicine, art, and poetry, were covered in interview sessions. Excerpts from his autobiography, Ciudad de Fuego, were translated into English for publication. A complete bibliography of 70 books and research articles authored by Negrette was assembled. Negrette himself reviewed the compilation of this manuscript just days before his sudden death on September 14, 2003. RESULTS: Americo Negrette, a Venezuelan physician, biochemist, artist, and poet, observed a dancing epidemic in 1952. He acquired, through interviews with locals, the knowledge that there were two other small towns along Lake Maracaibo devastated by a syndrome called el mal (the bad). Negrette changed the diagnosis of these patients from a dancing mania to what he believed was Huntington chorea, later termed HD. He presented his findings at the Venezuelan Sixth Congress of Medical Science in 1955. He was met with reluctance in the local scientific community and a passive ear from government authorities. His description, written in Spanish, was not widely distributed beyond Venezuela, and its importance would have to wait until one of his students shared his observations (more than a decade later) with the HD research community and the rest of the world. CONCLUSION: The "dancing mania" of Maracaibo, because of the work of Americo Negrette, has been reclassified as Huntington disease.

Attitude to Health↗

Acupuncture for idiopathic headache.

BACKGROUND: Acupuncture is widely used for the treatment of headache, but its effectiveness is controversial. OBJECTIVES: To determine whether acupuncture is: - more effective than no treatment - more effective than 'sham' (placebo) acupuncture - as effective as other interventions used to treat idiopathic (primary) headaches. SEARCH STRATEGY: Electronic searches were performed in MEDLINE, EMBASE, the Cochrane Controlled Trials Register, and the database of the Cochrane Field for Complementary Medicine. We also contacted researchers in the field and checked the bibliographies of all articles obtained. SELECTION CRITERIA: Randomized or quasi-randomized clinical trials comparing acupuncture with any type of control intervention for the treatment of idiopathic (primary) headaches were included. DATA COLLECTION AND ANALYSIS: Information on patients, interventions, methods, and results was extracted by at least two independent reviewers using a pre-tested standard form. Results on headache frequency and intensity were summarized descriptively. Responder rate ratios (responder rate in treatment group/responder rate in control group) were calculated as a crude indicator of results for sham-acupuncture-controlled trials. Quantitative meta-analysis was not possible due to trial heterogeneity and insufficient reporting. MAIN RESULTS: Twenty-six trials including a total of 1151 patients (median, 37; range, 10-150) met the inclusion criteria. Sixteen trials were conducted among patients with migraine, six among patients with tension-type headache, and four among patients with various types of headaches. The majority of trials had methodological and/or reporting shortcomings. In eight of the 16 trials comparing true and sham (placebo) acupuncture in migraine and tension-type headache patients, true acupuncture was reported to be significantly superior; in four trials there was a trend in favor of true acupuncture; and in two trials there was no difference between the two interventions. (Two trials were uninterpretable.) The 10 trials comparing acupuncture with other forms of treatment yielded contradictory results. REVIEWER'S CONCLUSIONS: Overall, the existing evidence supports the value of acupuncture for the treatment of idiopathic headaches. However, the quality and amount of evidence are not fully convincing. There is an urgent need for well-planned, large-scale studies to assess the effectiveness and cost-effectiveness of acupuncture under real-life conditions.

Acupuncture Therapy↗

Chronic fatigue syndrome and fibromyalgia resources on the world wide web: a descriptive journey.

A wealth of information on chronic fatigue syndrome (CFS) and fibromyalgia is available on the World Wide Web for health care providers and patients. These illnesses have overlapping features, and their etiologies remain unknown. Multiple Web sites were reviewed, and selected sites providing useful information were identified. Sites were classified according to their content and target audience and were judged according to suggested standards of Internet publishing. Fifty-eight sites were classified into groups as follows: comprehensive and research Web sites for CFS and fibromyalgia, meetings, clinical trials, literature search services, bibliographies, journal, and CFS and fibromyalgia Web sites for the patient.

Directories as Topic↗

[Porencephaly in infants and children imaged with tomography].

On the basis of current bibliography verum and spurum porencephaly have been distinguished. Verum porencephaly originates in prenatal life and is defined as disorder of brain tissue development. Its main characteristic is that cave borders are covered with grey matter often connected with lateral ventricle. Spurum porencephaly is term for lack of brain tissue caused by its disintegration. Five cases of cysts in infants and children diagnosed in CT examination were presented with the description of the patients' clinical condition. 3 cases were diagnosed as verum porencephaly, the remaining 2 cases turned out to be spurum porencephaly.

Adolescent↗

[The evaluation of the quality of so-called "clinical protocols" in primary care developed in the Autonomous Community of Murcia. The Group for the Evaluation and Improvement of Clinical Protocols].

OBJECTIVE: To evaluate the quality of the design (structural) of the clinical protocols worked out in the Murcia region. DESIGN: Descriptive evaluation. Retrospective, over 8 years. SETTING: Primary health care. PARTICIPANTS: The professionals from the 31 health centres in the Murcia Region with activities covered by protocols. MEASUREMENTS AND MAIN RESULTS: The 519 documents written between January 1985 and January 1994, of which 470 were obtained and classified, were the object of the study. 11 criteria for the design quality of the protocols were worked out, based on the bibliography and a previous experiment. The inter-observer reliability of these criteria were assessed and two of them were rejected. Then the quality of the protocols design was evaluated through rates of compliance with the 9 standard and previously validated explicit criteria. 55.1% (259) of the documents fitted the accepted definition of protocol. 42.3% (199) had a recording system. 20.2% (95) had foreseen their evaluation. 41.7% (196) had some algorithm. 38.1% (179) had an anamnesis and/or examination page. 88.9% (418) were under 20 pages. Only 11.9% (56) had an index. 57.7% (271) had no formal defects of hand-writing or legibility. Only 14.7% (69) had a bibliography. Only three of the nine criteria were satisfied in over 50% of cases; three more, in under 30%. Overall, the clinical protocols had 2488 defects, with an average per protocol of 5.29. CONCLUSIONS: The formal quality of the primary care clinical protocols worked out in the Autonomous Community of Murcia is very low. Corrective measures to improve this situation should be taken.

Clinical Protocols↗

[Auditory changes in spontaneous intracranial hypotension].

Descriptive report dealing with the auditive disturbances of 3 patients with spontaneous intracranial hypotension, disorder typified for orthostatic cephalea without a know ground explaining the descent of the cerebrospinal fluid pressure. The patients presented with hypoacusis, hyperacusis, feeling of plenitude, blockade and ear pressure. The clinical picture is supposed to be linked to a low endolabyrinthine pressure, secondary to an intracranial hypotension. Review of auditive symptoms reported in the bibliography among individuals showing benign intracranial hypertension and intracranial hypotension owing to several causes.

Adolescent↗

[Anorgasmy prevalence in women attended at Familiar Medicine Unit no. 1 in Obregon, Sonora, Mexico].

OBJECTIVE: To estimate the prevalence of anorgasmy in women. PATIENTS AND METHODS: An observational, descriptive and transversal study was done from August 2002 to January 2003 surveying women with sexual activity in a clinic of the Mexican Institute of Social Security in Obregon, Sonora. The questionnaire was validated by the UNAM. The analyzed variables were: age, scholar degree, the age in which women started sexual activity, number of children, marital status, the number of sexual partners, pleasure to sex for the women, satisfaction and feeling like doing sex, who decides and begins to do sex, frequency of sexual intercourse, knowledge about orgasm and one's own experience, as well as psychosomatic symptoms. Data were analyzed by descriptive statistics, chi square test and Likert's scale. RESULTS: Seventy-three women were surveyed, with ages between 16 and 46 years. Anorgasmy frequency was of 6.8%; 53.4% of the women had secondary education and 37% superior education. Time of active sexual life varied between 1 and 30 years; the knowledge about orgasm was of 74%. CONCLUSIONS: The orgasmic dysfunction is lower in this region than that reported in the bibliography, this could be due to the greater scholar degree of women, social and cultural issues, and the women's independence. Nevertheless, the health team must be qualified to detect and treat it, in order to avoid complications.

Adolescent↗

Health education literature for parents of physically handicapped children.

Parents, for many reasons, are not always able to understand the nature of their child's handicap. Many physicians recognize that they are not always as effective as they might wish to be in enabling parents to comprehend handicaps. Written hand-out materials as aids to better understanding can be helpful to both physicians and families as supplements to verbal descriptions of the disease and instructions for care. This compilation of currently available literature, grouped by category of disease and with addresses where they may be ordered, should offer the pediatrician and other health personnel a ready source of assistance.

Bibliographies as Topic↗

Recipients of oocyte donation: an integrative review.

OBJECTIVE: To conduct a systematic review of published research to provide a synthesis of the psychosocial characteristics of donor oocyte recipient women. DATA SOURCES: The sample of published studies was selected from 1983 to September 2002. Retrieval of the studies used online computer searches from CINAHL, MEDLINE, PsycINFO, and Wilson's Social Science Abstracts using the terms reproduction techniques, in vitro fertilization, oocyte donation, oocyte recipients, and egg donation; citations from references and bibliographies of previously located articles; and two 60-minute retrieval sessions with a librarian specializing in health science literature. STUDY SELECTION: The majority of studies retrieved were completed in the natural sciences. The final sample resulted in 16 studies. DATA EXTRACTION: Each study was read and the data were extracted using a survey instrument developed by the investigator. DATA SYNTHESIS: Multiple methodologies were used in the sample; most were exploratory, retrospective, and descriptive studies. Thus, the data were analyzed using a qualitative discursive approach. A total of 827 donor oocyte recipient women participated in the studies. CONCLUSIONS: Published research investigating the psychosocial characteristics of donor recipient women was categorized into six focused areas: motivation; desired donor characteristics; selection of a known versus an anonymous donor; demographic, educational, and psychosocial profiles; disclosure of the method of conception to family members, friends, and the resulting child; and the relationship between the oocyte recipient and her resulting offspring. Research involving the psychosocial aspects of donor oocyte recipient women is in the infancy stage.

Attitude to Health↗

Resin-bonded fixed partial dentures--a literature review with presentation of a novel approach.

PURPOSE: Resin-bonded fixed partial dentures (RBFPD) have been in our profession for over 20 years. The aim of this work was to provide some background about their development and the factors that influence their clinical longevity. MATERIALS AND METHODS: A recent literature search conducted using MEDLINE along with analysis of bibliographies of published papers revealed a considerable number of publications of RBFPDs since their first introduction in the mid-1970s. Critical analysis of these publications revealed some important and interesting key facts. These were divided into sections about developments in the treatment of the fit surface of the casting, bonding systems, and prosthesis design. A separate section about factors that affect the longevity of RBFPDs is included, along with a detailed description of preparation designs of an anterior and a posterior RBFPD. RESULTS: The typical design of RBFPDs is characterized by a high degree of conservation of tooth structure of abutments compared with designs of conventional fixed prostheses. While the early RBFPDs were associated with a high frequency of premature failure--mostly because of debonding--developments in preparation design and bonding techniques as well as better understanding of the appropriate type of metal alloy to be used and the best preparation method for enhanced bonding have led to significant improvements in their long-term survival. CONCLUSION: RBFPDs should be considered viable treatment options for those clinical situations that are best suited for their use. Preparation design, cement type, and casting alloy type as well as surface treatment are among the most important factors that influence longevity of RBFPDs.

Bicuspid↗

Career choice in academic medicine: systematic review.

OBJECTIVES: To review systematically the evidence about what factors influence the decision to choose or not choose a career in academic medicine. DESIGN: A systematic review of relevant literature from 1990 to May 2005. DATA SOURCES: Searches of The Cochrane Library, Medline (using Ovid and PubMed) from 1990 to May 2005, and EMBASE from 1990 to May 2005 were completed to identify relevant studies that explored the influential factors. Additional articles were identified from searching the bibliographies of retrieved articles. SELECTION OF STUDIES: We attempted to identify studies that included residents, fellows, or staff physicians. No restrictions were placed on the study methodologies identified and all articles presenting empirical evidence were retrieved. For cohort, case-control, and cross-sectional studies, minimum inclusion criteria were the presence of defined groups, and the ability to extract relevant data. For surveys that involved case series, minimum inclusion criteria were a description of the population, and the availability of extractable data. Minimum inclusion criteria for qualitative studies were descriptions of the sampling strategy and methods. RESULTS: The search identified 251 abstracts; 25 articles were included in this review. Completion of an MD with a graduate degree or fellowship program is associated with a career in academic medicine. Of the articles identified in this review, this finding is supported by the highest quality of evidence. Similarly, the completion of research and publication of this research in medical school and residency are associated with a career in academic medicine. The desire to teach, conduct research, and the intellectual stimulation and challenge provided in academia may also persuade people to choose this career path. The influence of a role model or a mentor was reported by physicians to impact their decision making. Trainees' interest in academic medicine wanes as they progress through their residency. CONCLUSIONS: In order to revitalize academic medicine, we must engage trainees and retain their interest throughout their training. Research opportunities for medical students, and fellowships or graduate training can meet this challenge and influence career choice. Initiatives to stimulate and maintain interest in academic medicine should be evaluated in prospective studies across multiple sites.

Academic Medical Centers↗

Androgen treatment of depressive symptoms in older men: a systematic review of feasibility and effectiveness.

OBJECTIVE: To determine the feasibility and effectiveness of androgen treatment of depressive symptoms in older men. METHOD: We searched MEDLINE, PsycINFO, Eric, HealthStar, and the Cochrane Database of Systematic Reviews for potentially relevant articles. The bibliographies of relevant articles were searched for additional references and experts were consulted. Seventeen reports (8 open and 12 randomized trials; 3 articles reported studies of 2 designs) met the following inclusion criteria: original investigation; published in English or French, use of acknowledged criteria or scale for depression, and open or randomized trial of androgen treatment. Four criteria assessed study validity: randomization, double blinding, comparability of treatment and control groups at baseline, and description of dropouts. We abstracted, tabulated, and compared information from each article. RESULTS: Most studies had methodological limitations. With regard to feasibility, there were few reported withdrawals due to adverse events. With regard to effectiveness, 6 of 8 open trials had positive results, and 5 of 12 randomized trials had positive results, although 1 was equivocal. However, testosterone was combined with antidepressant medication in 3 of these positive randomized trials. Only 2 open trials enrolled subjects whose mean age was 60 years or over. One had positive results, and the other had negative results. CONCLUSION: Androgen therapy may be feasible in the short term, but there is little evidence that it is an effective treatment for depressive symptoms in older men.

Dehydroepiandrosterone↗