scholarly journals Clinical and cytogenetic features of a Brazilian sample of patients with phenotype of oculo-auriculo-vertebral spectrum: a cross-sectional study

2014 ◽  
Vol 133 (3) ◽  
pp. 191-198 ◽  
Author(s):  
Alessandra Pawelec da Silva ◽  
Rafael Fabiano Machado Rosa ◽  
Patrícia Trevisan ◽  
Juliana Cavalheiro Dorneles ◽  
Camila Saporiti Mesquita ◽  
...  

CONTEXT AND OBJECTIVE: Oculo-auriculo-vertebral spectrum (OAVS) is considered to be a defect of embryogenesis involving structures originating from the first branchial arches. Our objective was to describe the clinical and cytogenetic findings from a sample of patients with the phenotype of OAVS.DESIGN AND SETTING: Cross-sectional study in a referral hospital in southern Brazil.METHODS: The sample consisted of 23 patients who presented clinical findings in at least two of these four areas: orocraniofacial, ocular, auricular and vertebral. The patients underwent a clinical protocol and cytogenetic evaluation through high-resolution karyotyping, fluorescence in situ hybridization for 5p and 22q11 microdeletions and investigation of chromosomal instability for Fanconi anemia.RESULTS: Cytogenetic abnormalities were observed in three cases (13%) and consisted of: 47,XX,+mar; mos 47,XX,+mar/46,XX; and 46,XX,t(6;10)(q13; q24). We observed cases of OAVS with histories of gestational exposition to fluoxetine, retinoic acid and crack. One of our patients was a discordant monozygotic twin who had shown asymmetrical growth restriction during pregnancy. Our patients with OAVS were characterized by a broad clinical spectrum and some presented atypical findings such as lower-limb reduction defect and a tumor in the right arm, suggestive of hemangioma/lymphangioma.CONCLUSIONS: We found a wide range of clinical characteristics among the patients with OAVS. Different chromosomal abnormalities and gestational expositions were also observed. Thus, our findings highlight the heterogeneity of the etiology of OAVS and the importance of these factors in the clinical and cytogenetic evaluation of these patients.

2019 ◽  
Vol 19 (4) ◽  
pp. 414-420
Author(s):  
Payam Mehrian ◽  
Abtin Doroudinia ◽  
Moghadaseh Shams ◽  
Niloufar Alizadeh

Background: Intrathoracic Lymphadenopathy (ITLN) in Human Immunodeficiency Virus (HIV) infected patients may have various etiologies and prognoses. Etiologies of ITLN can be distinguished based on the distribution of enlarged lymph nodes. Sometimes tuberculosis (TB) is the first sign of underlying HIV infection. Objective: We sought to determine ITLN distribution and associated pulmonary findings in TB/HIV co-infection using Computed Tomography (CT) scan. Methods: In this retrospective, observational, cross-sectional study, chest CT scans of 52 patients with TB/HIV co-infection were assessed for enlarged intrathoracic lymph nodes (>10 mm in short axis diameter), lymphadenopathy (LAP) distribution, calcification, conglomeration, the presence of hypodense center and associated pulmonary abnormalities. LAP distribution was compared in TB/HIV co-infection with isolated TB infection. Results: Mediastinal and/or hilar LAP were seen in 53.8% of TB/HIV co-infection patients. In all cases, LAP was multinational. The most frequent stations were right lower paratracheal and subcarinal stations. Lymph node conglomeration, hypodense center and calcification were noted in 25%, 21.4% and 3.5% of patients, respectively. LAP distribution was the same as that in patients with isolated TB infection except for the right hilar, right upper paratracheal and prevascular stations. All patients with mediastinal and/or hilar adenopathy had associated pulmonary abnormalities. Conclusion: All patients with TB/HIV co-infection and mediastinal and/or hilar adenopathy had associated pulmonary abnormalities. Superior mediastinal lymph nodes were less commonly affected in TB/HIV co-infection than isolated TB.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Richard Mbusa Kambale ◽  
Gaylord Amani Ngaboyeka ◽  
Joe Bwija Kasengi ◽  
Sarah Niyitegeka ◽  
Boss Rutakaza Cinkenye ◽  
...  

Abstract Background Suboptimal child nutrition remains the main factor underlying child undernutrition in Democratic Republic of Congo (DRC). This study aimed to assess the prevalence of minimum acceptable diet and associated factors among children aged 6–23 months old. Methods Community-based cross-sectional study including 742 mothers with children aged 6–23 months old was conducted in 2 Health Zones of South Kivu, Eastern DRC. WHO indicators of Infant and Young Child Feeding (IYCF) regarding complementary feeding practices were used. Logistic regression analysis was used to quantify the association between sociodemographic indicators and adequate minimum acceptable diet for both univariate and multivariate analysis. Results Overall, 33% of infants had minimum acceptable diet. After controlling for a wide range of covariates, residence urban area (AOR 2.39; 95% CI 1.43, 3.85), attendance postnatal care (AOR 1.68; 95% CI 1.12, 2.97), education status of mother (AOR 1.83; 95% CI 1.20, 2.77) and household socioeconomic status (AOR 1.72; 95% CI 1.14, 2.59) were factors positively associated with minimum acceptable diet. Conclusion Actions targeting these factors are expected to improve infant feeding practices in South Kivu.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Ameer Kakaje ◽  
Mohammad Marwan Alhalabi ◽  
Ayham Alyousbashi ◽  
Ayham Ghareeb

AbstractAllergic rhinitis (AR) is a common medical condition worldwide. It is an inflammation in the nasal mucosa due to allergen exposure throughout the year. Laryngopharyngeal reflux (LPR) is another medical condition that can overlap with AR. LPR can be considered an extra oesophageal manifestation of gastro-oesophageal reflux disease (GORD) or a different entity. Its diagnosis imposes a real challenge as it has a wide range of unspecific symptoms. Although AR and LPR are not life-threatening, they can severely affect the quality of life for years and cause substantial distress. Moreover, having AR is associated with having asthma which is also in turn associated with GORD. This is a cross-sectional study which used surveys distributed online on Social Media and targeted people across Syria. All participants who responded to the key questions were included. Reflux symptom index (RSI) was used for LPR, and score for allergic rhinitis (SFAR) was used for AR. Demographic questions and whether the participant had asthma were also included in the survey. We found that there was an association between the symptoms of LPR and AR p < 0.0001 (OR, 2.592; 95% CI 1.846–3.639), and their scores were significantly correlated (r = 0.334). Having asthma was associated with LPR symptoms p = 0.0002 (OR 3.096; 95% CI 1.665–5.759) and AR p < 0.0001 (OR 6.772; 95% CI 2.823–16.248). We concluded that there was a significant association between having LPR, AR, and asthma. We need more studies to distinguish between their common symptoms and aetiologies.


2012 ◽  
Vol 25 (spe1) ◽  
pp. 87-93 ◽  
Author(s):  
Jennara Candido Nascimento ◽  
Maria Alzete Lima ◽  
Paulo Cesár de Almeida ◽  
Lorita Marlena Freitag Pagliuca ◽  
Joselany Áfio Caetano

OBJECTIVE: To analyze the efficacy of a virtual guide with a view to promoting eye health. METHODS: Cross-sectional study carried out with 130 HIV/AIDS patients from an ambulatory unit between May and August/2010. The data was collected through interviews and observation, using three forms that addressed the socioeconomic profile, understanding and performing the virtual guide eye self-examination. Data were analysed using descriptive statistics, χ² and Fisher-Freeman-Halton tests. It was considered statistically significant p <0.05. RESULTS: The virtual guide was positively evaluated in the categories of understanding and adequacy of text illustrations. There was statistically significant difference between the tests performed with this virtual guide (p=0.036). Comparing the results obtained by participants and researchers, we observed similarities in the findings (p>0.140), excepting only the evaluation of the right eyelid. CONCLUSION: The virtual guide helped developing proper eye self-exam, enabling people to notice alterations in their eyes.


2021 ◽  
Vol 8 (3) ◽  
pp. 399
Author(s):  
Priyanka Gupta ◽  
Shreya Sodhani ◽  
Kamaxi Bhate

Background: Studies have shown that there is a lack of understanding about deceased organ donation. An adequate knowledge and the right attitude towards organ donation helps create a positive influence on people which may increase the organ donation rate. Since young students are less prejudiced and easily accept new ideas, it is necessary to educate the youth about organ donation through their teachers. At the same time, it is imperative to train teachers who will be responsible for spreading awareness so that they can include this topic in their lessons.Methods: A cross- sectional study was conducted among the degree college teachers and students in Mumbai city from November 2017- January 2018, after obtaining the institutional ethical approval and written informed consent. Using purposive sampling, teachers and students of degree colleges in Mumbai were approached, out of which 40 students and 40 teachers consented to participate in the study. A self-administered questionnaire was used to assess the pre-existing understanding, beliefs, perception and attitude about deceased organ donation.  Results: Limited number of degree college teachers and students were aware of the various terminologies related to organ donation. Organ donation definition was correctly answered by 23 teachers (57.5%) and 17 students (42.5%). The correct meaning of brainstem death was known to 19 teachers (47.5%) and 2 students (5%). There are certain misconceptions and perceptions about deceased organ donation among both the teachers and the students. 13 teachers (32.5%) and 16 students (40%) believed that donor family will be revealed about the recipient’s details. 7 teachers (17.5%) and 18 students (45%) were of the opinion that government provides monetary support to donor families. decision of organ donation after death rests on relatives was known to 33 teachers (82.5%) and 21 students (52.5%). About 6 teachers (15%) and 18 students (45%) wrongly believed that if conflicts arise between relatives’ organs can still be donated. There’s no possibility of buying /selling of organs in India was known 27 teachers (67.5%) and 31 students (77.5%). About 34 teachers (85%) and 31 students (77.5%) wanted to pledge for organ donation after death. 90% teachers and 80% students said they think deceased organ donation awareness should be incorporated in the education curriculum.Conclusions: 85% of the study subjects (both teachers and students) felt the need of intensifying organ donation awareness programmes. Thus, organ donation awareness should be effectively incorporated in the educational curriculum.


Author(s):  
Sathish Dev D. ◽  
Sugantha Valli M. ◽  
Gnana Sezhian M. ◽  
Suganya E.

Background: Adolescents represent about 21.8 percent of India’s population. Various health risks with potentially life-threatening consequences become prominent in this age group. This study was undertaken with the objective to determine the morbidity profile of school going adolescents in Tamil Nadu.Methods: This descriptive, cross sectional study was planned and conducted from January 2016 to August 2017. The study population included 987 adolescent boys and girls aged between 10 to 19 years studying in high and higher secondary Government schools of Thiruvallur district of Tamil Nadu. Semi-structured questionnaire was used as data collection tool.Results: The mean age groups of this school going adolescent are 14.2 yrs. In the present study 583 (59%) of the study participants were affected by one or more morbidity condition. Among them, 395 (67.7%) were in the age group 10-14 years and 188 (32.2%) in the age group 15-19 years. 122 (21%) and 461 (79.1%) of male and female were affected respectively. In the present study, fever (21%) was the commonest reported morbidity followed by acute respiratory infection (15.7%) and acute gastrointestinal disease (13. 4%).Conclusions: This study shows that adolescents are prone to a wide range of morbidity conditions. Apart from respiratory and gastro intestinal diseases, reproductive tract infections and sexual health problems are important morbidities affecting this age group. There is strong need to sensitize health care practitioners at all levels, in both government and private sectors towards health problems in adolescent age groups.


Author(s):  
Larissa Chaves Cardoso FERNANDES ◽  
Patrícia Moreira RABELLO ◽  
Bianca Marques SANTIAGO ◽  
Marcus Vitor Diniz de CARVALHO ◽  
Manoel Raimundo de SENA JÚNIOR ◽  
...  

ABSTRACT Objetive To determine the percentage of correctness of the Orbital Index (OI) for estimation of sex, ancestry and age in Brazilian skulls. Methods Cross-sectional study of 183 human dry skulls from the southeastern Brazil. A total of 100 skeletons were males and 83 females; of which 36 were aged up to 39 years, 60 aged between 40 and 59 years, and 87 aged 60 years or older. As for ancestry, 103 were from white, 51 mixed race, and 29 black individuals. The OI was calculate by the formula = height/width x 100. The data were submitted to Student’s t test, F (ANOVA), Tukey and Kruskal Wallis tests as well as to discriminant analysis, with a 5% significance level. Results The sample was characterized as mesoseme, with a mean age of 56.62 (±19.97) years. No significant difference was observed (p=0.511) between the OI in females (right: 86.43 ± 6.58 and left: 86.70 ± 5.93) and males (right: 85.78 ± 6.69 and left: 86.37 ± 6.20). There were no significant differences between age, ancestry and the variables analyzed (p>0.05). The right and left orbital widths were significantly dimorphic between sexes (p<0.001). The percentage of correctness of the method for estimation of sex, age and ancestry was found to be 65.6%, 43.7%, and 43.6%, respectively. Conclusions The OI is not an appropriate method for estimation of sex, ancestry and estimation of age in this Brazilian sample. The methodology should be expanded to other population groups so that it can be improved.


2019 ◽  
Vol 5 (1) ◽  
pp. e000556
Author(s):  
Ulrike H Mitchell ◽  
A Wayne Johnson ◽  
Patrick J Owen ◽  
Timo Rantalainen ◽  
Daniel Belavy

ObjectiveThe transversus abdominis muscle (TrA) is active during running as a secondary respiratory muscle and acts, together with the multifidus, as trunk stabiliser. The purpose of this study was to determine size and symmetry of TrA and multifidus muscles at rest and with contraction in endurance runners without low back pain.DesignCross-sectional study.SettingA medical imaging centre in Melbourne, Australia.ParticipantsThirty middle-aged (43years±7) endurance-trained male (n=18) and female (n=12) runners without current or history of low back pain.Outcome measuresMRI at rest and with the core engaged. The TrA and multifidus muscles were measured for thickness and length (TrA) and anteroposterior and mediolateral thickness (multifidus). Muscle activation was extrapolated from rest to contraction and compared with the same and contralateral side. Paired t-tests were performed to compare sides and contraction status.ResultsLeft and right TrA and multifidus demonstrated similar parameters at rest (p>0.05). However, with contraction, the right TrA and multifidus (in mediolateral direction) were 9.2% (p=0.038) and 42% (p<0.001) thicker, respectively, than their counterparts on the left. There was no TrA thickness side difference with contraction in left-handed participants (p=0.985). When stratified by sex, the contracted TrA on the right side remained 8.4% thicker, but it was no longer statistically significant (p=0.134). The side difference with contraction of the TrA became less with increasing training age.ConclusionsRight-handed long-term runners without low back pain exhibit a greater right side core muscle activation when performing an isometric contraction. This activation preference diminishes with increasing training age.


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