Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

Background: The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mental retardation. Aim: We report the molecular and/or clinical characterisation of 22 individuals with the 17q21.31 microdeletion syndrome. Results: We estimate the prevalence of the syndrome to be 1 in 16 000 and show that it is highly underdiagnosed. Extensive clinical examination reveals that developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour are the most characteristic features. Other clinically important features include epilepsy, heart defects and kidney/urologic anomalies. Using high resolution oligonucleotide arrays we narrow the 17q21.31 critical region to a 424 kb genomic segment (chr17: 41046729-41470954, hg17) encompassing at least six genes, among which is the gene encoding microtubule associated protein tau (MAPT). Mutation screening of MAPT in 122 individuals with a phenotype suggestive of 17q21.31 deletion carriers, but who do not carry the recurrent deletion, failed to identify any disease associated variants. In five deletion carriers we identify a <500 bp rearrangement hotspot at the proximal breakpoint contained within an L2 LINE motif and show that in every case examined the parent originating the deletion carries a common 900 kb 17q21.31 inversion polymorphism, indicating that this inversion is a necessary factor for deletion to occur (p< 10(25)). Conclusion: Our data establish the 17q21.31 microdeletion syndrome as a clinically and molecularly well recognisable genomic disorder.

Medical students’ knowledge, attitudes, and perceptions on contraceptive use and counselling : a cross-sectional survey in Maharashtra, India

Objectives. This study aimed to investigate the knowledge, attitudes and perceptionstowards contraceptive use and counselling among medical students in Maharashtra, India. Setting. Considerable global maternal mortality and morbidity could be avoided through theuse of effective contraception. In India, contraception services are frequently unavailable or there are obstacles to obtaining modern, reversible contraceptives. Participants. A cross-sectional descriptive study using a self-administered questionnaire was conducted among 1996 medical students in their fifth year of study at 27 medical colleges in the state of Maharashtra, India. Descriptive and analytical statistics interpreted the survey instrument and significant results were presented with 95% CI. Results. Respondents expressed a desire to provide contraceptive services. A few studentshad experienced training in abortion care. There were misconceptions about moderncontraceptive methods and the impact of sex education. Attitudes towards contraceptionwere mainly positive, premarital counselling was supported and the influence of traditional values and negative provider attitudes on services was recognised. Gender, area of upbringing and type of medical college did not change the results. Conclusions. Despite mostly positive attitudes towards modern contraceptives, sex education and family planning counselling, medical students in Maharashtra have misconceptions about modern methods of contraception. Preservice and in-service training in contraceptive counselling should be implemented in order to increase women's access to evidence-based maternal healthcare services.

Evaluation of different occlusal splints and counselling in the management of myofascial pain dysfunction

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Toothbrushing with vegetable oil: a clinical and laboratorial analysis.

The dentifrices currently available in the marketplace contain many anticariogenic substances, fluoride and abrasives aimed to better clean the dental surface, remove dental plaque, improve salivary flow and its buffer capacity and reduce colonies of bacteria such as S. mutans, the causative agent of dental caries. The objective of this study was to evaluate the possibility of adequately removing dental plaque using an experimental almond oil dentifrice (Titoil) with no abrasives or antiplaque agents. This study was carried out with 80 volunteers, all of them 18-year-old recruits from the military training school of Araçatuba -- SP. Saliva sampling and dental plaque disclosing were undertaken both before and after 28 days of toothbrushing with a low abrasive dentifrice (Group 1: 40 volunteers) or with Titoil (Group 2: 40 volunteers). Statistical analysis of the results revealed that the experimental dentifrice (Titoil) did not interfere with salivary flow and reduced dental plaque more than the low abrasive dentifrice, improved the salivary buffer capacity and decreased salivary S. mutans (Caritest-SM) as much as regular dentifrices. It was concluded that if the dental industry replaces abrasive by vegetable oil in dentifrices, these will be more effective in maintaining oral health and will cause less dental abrasion.

Comparative study of the clinical and anti-microbial efficacy of tongue cleaners

Candida species have frequently been isolated from the oral cavities of a variety of patients, such as elderly people, dentures users, immunocompromised and health patients. Yeasts may be associated with immune response and local factors such as poor oral hygiene. It was evaluated effectiveness of tongue cleaner showing which types would be preferred by patients, changes in tongue coating and in saliva yeasts counting. Thirty patients were selected and randomly distributed into three groups. This crossover blind study evaluated the effect of tongue cleaning using: a plastic and a steel tongue scraper and a nylon soft-bristle toothbrush. All patients were instructed to use the cleaners twice a day for one week (fifteen-day wash-out period). Saliva and tongue coating samples were collected from each patient from each test period, the yeasts were counted by colony forming units per mL (CFU/ mL) and the species were identified. The patients were questioned about cleaner preference. An increase in the percentage of patients with no tongue coating after scraping was observed. A reduction in the mean number of Candida species in tongue coating was observed only after nylon soft-bristle toothbrush cleaner. Candida albicans was the prevalent species. Volunteers preferred to the steel tongue scraper (60%). Tongue cleaners reduced the tongue coating and the mean number of saliva's yeasts. Degree of tongue coating favors the Candida species colonization.

Drug-induced gingival overgrowth: A clinical and histopathological report

Gingival overgrowth is a significant problem faced by periodontists and is particularly associated with the use of certain drugs such as nifedipine, a high-specificity calcium channel blocker used for the treatment and prophylaxis of certain cardiovascular diseases. Development of gingival overgrowth is characterized by increased collagen in gingival tissue. In general is asymptomatic, at times associated with spontaneous bleeding and ulceration and can promote aesthetic changes and compromise hygiene habits and mastication of the patient. The severity of the symptoms is associated with the presence of risk factors such association with other drugs. This paper aims to present a case report of a patient with generalized gingival overgrowth, with more severe characteristics in the anterior mandible induced by chronic use of nifedipine who underwent basic non-surgical periodontal treatment including supra and subgingival scaling and root planning in both jaws associated with rigorous oral hygiene instructions and surgical therapy in the anterior mandible, the most affected area, to remove the excess of gingival tissue. Nifedipine was replaced by the patient cardiologist to propanolol hydrochloride (40 mg/kg) in an attempt to minimize unwanted side effects. After 6 month follow-up, no recurrence was observed, oral hygiene had improved and the patient had clinical periodontal health and esthetic satisfaction.

Leprosy: review of the epidemiological, clinical, and etiopathogenic aspects - Part 1

Leprosy is caused by Mycobacterium leprae and has been known since biblical times. It is still endemic in many regions of the world and a public health problem in Brazil. The prevalence rate in 2011 reached 1.54 cases per 10,000 inhabitants in Brazil. The mechanism of transmission of leprosy consists of prolonged close contact between susceptible and genetically predisposed individuals and untreated multibacillary patients. Transmission occurs through inhalation of bacilli present in upper airway secretion. The nasal mucosa is the main entry or exit route of M. leprae. The deeper understanding of the structural and biological characteristics of M. leprae, the sequencing of its genome, along with the advances in understanding the mechanisms of host immune response against the bacilli, dependent on genetic susceptibility, have contributed to the understanding of the pathogenesis, variations in the clinical characteristics, and progression of the disease. This article aims to update dermatologist on epidemiological, clinical, and etiopathogenic leprosy aspects.

A Cohort Study of Caries Incidence and Baseline Socioeconomic, Clinical and Demographic Variables: A Kaplan-Meier Survival Analysis

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

The pain and pleasure of being what one is: Viewpoints of health professionals and patients about being overweight/obese

The objective of this article is to discuss the meanings that health professionals and patients in treatment attribute to obesity. The research consisted of a qualitative survey in health, based on in-depth interviews with patients and professionals at an out-patient clinic at the University Hospital in Barcelona, Spain. Here, we discuss the concept of obesity, the meanings of diagnoses, the singularities involved in managing treatment, and the process of becoming ill, all in the light of the anthropology of health that has a sociocultural orientation. Obesity is usually seen by the professionals as a risk-factor disease. For patients, the incorporation of this rationality is procedural and is mixed in with other meanings attributed to being overweight/obese that have been gradually developed throughout life. A patient's autonomy in choosing to be fat, or obese, and to adhere to treatment, is defined as a process that requires support in order to come to joint proposals in caring for these problems.

Evaluation of dental restorations: a comparative study between clinical and digital photographic assessments

The aim of this study was to compare the efficacy of a direct clinical evaluation method with an indirect digital photographic method in assessing the quality of dental restorations. Seven parameters (color, occlusal marginal adaptation, anatomy form, roughness, occlusal marginal stain, luster, and secondary caries) were assessed in 89 Class I and Class II restorations from 36 adults using the modified US Public Health Service/Ryge criteria. Standardized photographs of the same restorations were digitally processed by Adobe Photoshop software, separated into the following four groups and assessed by two calibrated examiners: Group A: The original photograph displayed at 100%, without modifications (IMG100); Group B: Formed by images enlarged at 150% (IMG150); Group C: Formed by digital photographs displayed at 100% (mIMG100), with digital modifications (levels adjustment, shadow and highlight correction, color balance, unsharp Mask); and Group D: Formed by enlarged photographs displayed at 150% with modifications (mIMG150), with the same adjustments made to Group C. Photographs were assessed on a calibrated screen (Macbook) by two calibrated clinicians, and the results were statistically analyzed using Wilcoxon tests (SSPS 11.5) at 95% CI. Results: The photographic method produced higher reliability levels than the direct clinical method in all parameters. The evaluation of digital images is more consistent with clinical assessment when restorations present some moderate defect (Bravo) and less consistent when restorations are clinically classified as either satisfactory (Alpha) or in cases of severe defects (Charlie). Conclusion: The digital photographic method is a useful tool for assessing the quality of dental restorations, providing information that goes unnoticed with the visual-tactile clinical examination method. Additionally, when analyzing restorations using the Ryge modified criteria, the digital photographic method reveals a significant increase of defects compared to those clinically observed with the naked eye. Photography by itself, without the need for enlargement or correction, provides more information than clinical examination and can lead to unnecessary overtreatment.

Psychogenic dysphonia: diversity of clinical and vocal manifestations in a case series

Introduction: Psychogenic dysphonia is a functional disorder with variable clinical manifestations.Objective: To assess the clinical and vocal characteristics of patients with psychogenic dysphonia in a case series.Methods: The study included 28 adult patients with psychogenic dysphonia, evaluated at a University hospital in the last ten years. Assessed variables included gender, age, occupation, vocal symptoms, vocal characteristics, and videolaryngostroboscopic findings.Results: 28 patients (26 women and 2 men) were assessed. Their occupations included: housekeeper (n = 17), teacher (n = 4), salesclerk (n = 4), nurse (n = 1), retired (n = 1), and psychologist (n = 1). Sudden symptom onset was reported by 16 patients and progressive symptom onset was reported by 12; intermittent evolution was reported by 15; symptom duration longer than three months was reported by 21 patients. Videolaryngostroboscopy showed only functional disorders; no patient had structural lesions or changes in vocal fold mobility. Conversion aphonia, skeletal muscle tension, and intermittent voicing were the most frequent vocal emission manifestation forms.Conclusions: In this case series of patients with psychogenic dysphonia, the most frequent form of clinical presentation was conversion aphonia, followed by musculoskeletal tension and intermittent voicing. The clinical and vocal aspects of 28 patients with psychogenic dysphonia, as well as the particularities of each case, are discussed. (C) 2014 Associacao Brasileira de Otorrinolaringologia e Cirurgia Cervico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

Clinical and surgical management of an aggressive cherubism treated with autogenous bone graft and calcitonin

Cherubism is a rare autosomal-dominant inherited syndrome and is usually self-limiting; it starts in early childhood and involutes by puberty. It is a benign fibroosseous disease, characterized by excessive bone degradation of the upper and lower jaws followed by development of fibrous tissue masses. The purpose of this clinical report is to describe a rare and aggressive form of cherubism on an adult female patient that has been treated in our Bioscience Center for Special Health Care Needs-CEBAPE. The patient was firstly submitted to the surgical procedure with partial curettage of the lesion, and the cavity was filled with autogenous cancellous bone and bone marrow grafts. Furthermore, the support treatment used was the administration of salmon calcitonin by nasal spray during the first year after the preconized procedure. At 4-year followup, we confirmed the stomatognathic system improvement and esthetic rehabilitation, which led to a significant increase in the patient's quality of life.

Clinical and epidemiological aspects of feline leishmaniasis in Brazil

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Relationship Between Oral Health-Related Quality of Life, Oral Health, Socioeconomic, and General Health Factors in Elderly Brazilians

Objectives To assess the impact of oral health on quality of life in elderly Brazilians and to evaluate its association with clinical oral health measures and socioeconomic and general health factors. Design Cross-sectional study. Setting Population-based cohort study on health, well-being, and aging. Participants Eight hundred fifty-seven participants representing 588,384 community-dwelling elderly adults from the city of Sao Paulo, Brazil. MeasurementS Self-perceived impact of oral health on quality of life was measured using the Geriatric Oral Health Assessment Index (GOHAI), with scores categorized as good, moderate, or poor, indicating low, moderate, and high degrees of negative impact on quality of life, respectively. Results Nearly half of the individuals had good GOHAI scores (44.7% of overall sample, 45.9% of dentate participants, and 43.4% of edentulous participants). In the overall sample, those with poor self-rated general health and a need for dental prostheses were more likely to have poor and moderate GOHAI scores. Individuals with depression were significantly more likely to have poor GOHAI scores. No socioeconomic variables were related to the outcome, except self-perception of sufficient income, which was a protective factor against a poor GOHAI score in dentate participants. Conclusion Moderate and high degrees of negative impact of oral health on quality of life were associated with general health and clinical oral health measures, independent of socioeconomic factors.