scholarly journals Adrenomedullary Function in Cohort of Brazilian Pediatric Patients with Classic Congenital Adrenal Hyperplasia

2021 ◽  
Vol 2 (1) ◽  
pp. 20
Author(s):  
Talita Soriano Cruz Hovland ◽  
Izabel Calland Ricarte Beserra

Congenital Adrenal Hyperplasia is a group of autosomal recessive disorders resulting from deficiency of enzymes essential for the synthesis of cortisol. Disease of the adrenal cortex, but there may be involvement adrenomedullary. Cortisol and epinephrine are directly related to the individual’s stress response. Lower values of epinephrine in children with congenital adrenal yperplasia could be related to increased clinical complications and hospitalizations rate. We evaluated the serum values of metanephrines and normetanephrines in children and adolescents with classic congenital adrenal hyperplasia and primary hypothyroidism and possible correlations with disease and hospitalizations. Cross-sectional study involved 29 patients (10 simple virilizing and 19 salt-wasting), and control group of 28 patients with primary hypothyroidism (10 overt and 18 subclinical). There were no differences in age (p = 0.24) and metanephrine (p = 0.34) or normetanephrine values (p = 0.85) between groups.Hospitalization rate was higher in the cases than in the controls (51 x 12).We conclude the serum values of metanephrine and normetanephrine in patients with congenital adrenal hyperplasia were within the normal values of reference, with no significant difference of group with primary hypothiroidism. The number of hospitalizations in the case was high in relation to the control, mainly in salt-wasting.

2021 ◽  
Author(s):  
Siska Mayasari Lubis ◽  
Eka Lakshmi Hidayati ◽  
Frida Soesanti ◽  
Bambang Tridjaja AAP

Abstract BackgroundHypertension is an uncommon manifestation of congenital adrenal hyperplasia due to 21-hydroxylase enzyme deficiency (21-OHD CAH). Nevertheless, it is necessary to continuously be aware of hypertension incidence in 21-OHD CAH patients and its possible causes. Conflicting results regarding the role of PRA have been reported. This study aims to evaluate the association between plasma renin activity levels (PRA) with hypertension in 21-OHD CAH children. MethodsWe did an observational analytic study with a cross-sectional study design. The subjects were 21-OHD CAH children, aged >6 months to 18 years, selected by consecutive sampling and then compared between 21-OHD CAH with hypertension and non-hypertension groups. We gathered 40 subjects, 20 subjects in hypertension and 20 subjects in non-hypertension groups.ResultsThere were 16 from 27 (59.3%) and 4 from 13 subjects (30.8%) with hypertension in salt-wasting and simple virilizing type, respectively. There was a significant mean difference in PRA levels between hypertension and non-hypertension groups in salt wasting patients (p=0,016). The risk of hypertension in salt wasting patients with low PRA levels was 1,09 times after controlling for sex, 17-OHP levels, and the last fludrocortisone dose. The last dose of hydrocortisone had a significant relationship with the incidence of hypertension in salt wasting patients. ConclusionsThis study concludes that hypertension in 21-OHD CAH patients during the study period was 32%. The risk of hypertension in salt wasting patients with low PRA levels was 1.09 times after being controlled for sex, 17 OHP level, and the last dose of fludrocortisone.


2014 ◽  
Vol 2014 ◽  
pp. 1-6
Author(s):  
Pratik Gahalaut ◽  
Nitin Mishra ◽  
Sandhya Chauhan ◽  
Mir Mubashir Ali ◽  
Madhur Kant Rastogi ◽  
...  

Lunula is the white, half-moon shaped area seen in proximal ends of some nails. Though a few studies have described the nail changes that can occur in association with HIV infection, none of these paid much attention to lunula. Aims and Objectives. To study the lunula in fingernails among HIV infected patients. Materials and Methods. An observational, cross-sectional study to record presence of lunula in 168 HIV-positive patients and compare it with age and sex matched 168 healthy HIV-negative control. Anolunula (absence of lunula) in HIV-positive patients was correlated with CD4 counts, stages of HIV infection, time since patient was diagnosed as HIV-positive, and status of antiretroviral therapy. Results. Anolunula was present in significantly more fingernails in HIV-positive patients compared to HIV-negative controls. There was a highly significant difference for total anolunula (anolunula in all fingernails) in study and control group. Incidence of total anolunula was directly proportional to the stage of HIV infection, increasing progressively as the HIV infection advances from stage 1 to stage 4. Conclusion. Absence of lunula is related to not only HIV infection per se but also the stages of HIV infection.


2014 ◽  
Vol 32 (1) ◽  
pp. 70-77
Author(s):  
Carla Cristina J. N. de Almeida ◽  
Paula de Oliveira Mora ◽  
Valmir Aparecido de Oliveira ◽  
Camila Aparecida Joao ◽  
Carolina Regina Joao ◽  
...  

Objective: To evaluate the presence of family breakdown factors among eutrophic and overweight/obese adolescents. Methods: Cross-sectional study of 242 students aged between 14 and 19 years old, from a public school. Each student was weighed, measured and answered a questionnaire with closed questions addressing the presence of family breakdown factors. The adolescents were divided in two groups: euthophic and overweight/obese. The answers of both groups were compared by Fisher's exact and Mann-Whitney tests. Results: There was no statistically significant difference in the prevalence of the studied factors between the two groups. Comparing the number of positive answers (presence of family breakdown factors) and negative ones (absence of family breakdown factors), no difference was observed between the groups. Conclusions: The inclusion of a control group showed that factors of family breakdown, usually identified as associated with obesity in adolescents, may also be present in eutrophic adolescents.


2020 ◽  
pp. 20-23
Author(s):  
Sneha Upadhyay ◽  
Jyoti Bhavthankar ◽  
Mandakini Mandale ◽  
Nivedita Kaorey

Background: Asthma and its medications have been linked to oral diseases in asthmatic children. Aim: Assessment of the dental caries status, salivary Streptococcus mutans count and S. mutans colony score in children receiving inhaled anti asthmatic medications and their comparison in healthy children Material and Method: A cross-sectional study was performed on 40 asthmatic children and 40 healthy children in the age group of 6-14 years. DMFT/deft indices were calculated and saliva samples were collected. Diluted saliva was inoculated on MSB agar plates. S. mutans count and colony score were analysed after 24-48 hours of inoculation. Results: Statistically significant difference was observed in the mean DMFT/deft index, salivary S. mutans load and S. mutans colony score in children of the asthmatic group and control group. Conclusion: Prevalence of dental caries and cariogenic bacteria is higher in asthmatic children.


2018 ◽  
Vol 7 (1) ◽  
pp. 361-373
Author(s):  
Elias Ferreira Porto ◽  
Claudia Kumpel ◽  
Anselmo Cordeiro de Souza ◽  
Izabel Maria de Oliveira ◽  
Karoline Mayara de Aquiles Bernardo ◽  
...  

Avaliar o estilo de vida e percepção do estado geral de saúde em pacientes com Diabetes Mellitus tipo 2 - DM, Hipertensão Arterial Sistêmica - HAS e indivíduos saudáveis. Métodos: Estudo transversal, com grupo controle. Avaliado estilo de vida com Questionário Fantástico, e percepção geral de saúde via uma pergunta âncora de diabéticos do tipo 2 (n = 37), hipertensos (n = 60), e indivíduos saudáveis (n = 43). Análise estatística descritiva, analise de variância, e razão de chance (Odds Rattio – OR). Resultados: Verificou-se diferença significante (p0,0001) na pontuação do Questionário Fantástico entre os indivíduos saudáveis em relação DM e HAS. O pior desempenho no estilo de vida para os três grupos foi nos domínios de atividade física e alimentação. O risco do indivíduo com HAS afirmar que sua saúde é pior do que indivíduos da mesma faixa etária foi OR 1.8 (1.415 a 2.419) e para os indivíduos diabéticos OR de 2.8 (1.776 a 4.579) em relação a indivíduos saudáveis. Conclusão: Diabéticos e hipertensos têm um pior estilo de vida e percepção geral de saúde do que indivíduos saudáveis. Assim o estilo de vida saudável pode reduzir a prevalência e auxiliar no controle de doenças já estabelecidas.Palavras-chave: Estilo de vida. Hipertensão Arterial. Diabetes Mellitus. ABSTRACT: To evaluate the lifestyle and perception of general health status in patients with type 2 diabetes mellitus - DM, systemic arterial hypertension - SAH and healthy individuals. Methods: Cross-sectional study with control group. (N = 37), hypertensive (n = 60), and healthy subjects (n = 43) were assessed using a Fantastic Questionnaire, and general health perception via an anchor question. Descriptive statistical analysis, analysis of variance, and odds ratio (Odds Rattio - OR). Results: There was a significant difference (p 0.0001) in the score of the Fantastic Questionnaire among healthy individuals in relation to DM and SAH. The worst lifestyle performance for the three groups was in the physical activity and feeding domains. The risk of the individual with SAH to state that their health is worse than individuals of the same age group was OR 1.8 (1.415 to 2.419) and for the diabetic individuals OR of 2.8 (1.776 to 4.579) in relation to healthy individuals. Conclusion: Diabetics and hypertensives have a worse lifestyle and overall health perception than healthy individuals. Thus the healthy lifestyle can reduce the prevalence and help in the control of already established diseases.Keywords: Lifestyle. Hypertension. Diabetes Mellitus.


2021 ◽  
pp. jim-2021-002047
Author(s):  
Angélica Araceli Ramírez-Guerrero ◽  
Christian Octavio González-Villaseñor ◽  
Evelia Leal-Ugarte ◽  
Melva Gutiérrez-Angulo ◽  
Mario Ramírez-Flores ◽  
...  

Colorectal cancer (CRC) is the third most common cancer and one of the main causes of death around the world. Multiple lines of evidence have suggested the role of the corticotropin-releasing hormone (CRH) family in CRC induction, including the low expression of corticotropin-releasing hormone receptor 2 (CRHR2), which is an angiogenesis inhibitor and inflammatory modulator. Previous research suggests that CRHR2 expression in colonic intestinal cells can regulate migration, proliferation and apoptosis through the modulation of several pathways. The aim of this study was to analyze the association of the rs10250835, rs2267716 and rs2267717 variants of CRHR2 gene with CRC in the Mexican population in order to consider its predictive value in CRC. This cross-sectional study included a group of 187 unrelated patients with sporadic CRC and a control group of 191 healthy blood donors. DNA extraction from peripheral blood was carried out using the Miller method. Identification of the rs10250835 variant was performed using PCR-restriction fragment length polymorphism (RFLP) and the rs2267716 and rs2267717 variants using TaqMan allelic discrimination assay. The minor allele homozygous CC of the rs2267716 variant of CRHR2 showed significant difference between CRC and control group (p=0.025), as well as the GCA haplotype (p=0.007), corresponding to the rs10250835, rs2267716 and rs2267717 variants, respectively. Our results suggest that the rs2267716 variant and GCA haplotype of CRHR2 represent a risk factor for CRC development in Mexican patients.


Author(s):  
Manoel Itaguacy Leite NOVAIS JUNIOR ◽  
Manuella Santos Carneiro ALMEIDA ◽  
Camila Helena Machado da COSTA ◽  
Tassia Cristina de Almeida Pinto SARMENTO ◽  
Luis Ferreira de SOUSA FILHO ◽  
...  

ABSTRACT Objective: Evaluating the development of the permanent cuspids in children from Paraíba with cleft lip and palate applying the Nolla and the Demirjian methods. Methods: A cross-sectional study using an inductive approach and applying a comparative statistical procedure and direct documentation research technique. The universe of the study consisted of children assisted at the orthodontic practice of the Brazilian Association of Dentistry - Paraíba Section. The sample comprised 72 pairs of panoramic radiographs of children with and without cleft lip and palate from the same gender and, age difference of up to 30 days, ranging from 5 to 13 years of age. The study has evaluated the development of 576 cuspids. The images were evaluated by three duly calibrated examiners concomitantly, and the calcification stages were determined by a consensus. The stages of the cuspids calcification were evaluated in the panoramic radiographs according to Nolla and Demirjian classifications. Results: The average of the calcification stage of teeth was correspondingly higher in the control group than in the case group, showing a development delay of the cuspid teeth in the cleft lip and palate patients. The lower cuspids were significantly more developed than the upper cuspids (p <0.001). There were no significant differences between the sides. There was early tooth development in females but without significant difference. Conclusion: It was possible to note that patients with cleft lip and palate presented a delay in the development of the permanent cuspids when compared to non-cleft lip and palate patients, thus, reinforcing the importance of the individualization of the orthodontic planning.


2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Tania Mayvel Espinosa Reyes ◽  
Teresa Collazo Mesa ◽  
Paulina Arasely Lantigua Cruz ◽  
Adriana Agramonte Machado ◽  
Emma Domínguez Alonso ◽  
...  

Abstract Background Congenital adrenal hyperplasia (CAH) is an autosomal recessive group of diseases. 21-Hydroxylase deficiency (21OHD) accounts for between 95 and 99% of all CAH cases. Objectives To characterize the genotype of patients clinically diagnosed with 21OHD and to identify the most frequent mutations in the Cuban population. Methods Cross-sectional descriptive study that included all patients diagnosed with 21OHD from January 2000 to December 2018. For the molecular analysis of the CYP21A2 gene, a protocol was used that used the polymerase chain reaction in 2 stages; in the first stage genomic DNA was amplified and 5 point mutations were detected in the second stage (Intron 2, Deletion of 8 bp, G318X, I172N and P30L). Results The 5 point mutations were identified in 31 of the 55 (56%) studied patients, 16/21 (76%) in the salt-wasting, 12/18 (67%) in the simple virilizing and 3/16 (19%) in the nonclassical form. The Intron 2 mutation was the most frequent, followed by G318X and 8 bp deletion. Compound heterozygotes were found in 10 patients, all corresponded to classic forms of the disease. Conclusions The causal CYP21A2 gene mutation was detected in 56% (72% in classic CAH), which makes the method encouraging. The most frequent mutations observed were Intron 2 and G318X. The detection of mutations offers confirmation of diagnosis, prediction of phenotype and genetic counseling.


Medicina ◽  
2020 ◽  
Vol 56 (3) ◽  
pp. 142
Author(s):  
Osama Y. Al-Dirbashi ◽  
Charu Sharma ◽  
Nahid Al Dahouri ◽  
Anas Al Aidaros ◽  
Shamma Al-Muhairi ◽  
...  

Background and objectives: Although laparoscopic sleeve gastrectomy (LSG) is effective for obesity management, postoperative vitamin B12 (B12) deficiency is of major concern. In this cross-sectional study, we assessed the levels of B12 and its related functional biomarkers, namely, total homocysteine (tHcy), methylmalonic acid (MMA), folate, methylcitric acid (MCA), and hemoglobin (Hb), in one-year postoperative LSG patients and matched controls. Materials and Methods: Plasma B12, tHcy, MMA, folate, and MCA were measured in matched controls (n = 66) and patients (n = 71) using validated liquid chromatography-tandem mass spectrometry techniques and protocols in the United Arab Emirates (UAE). Results: The median B12 concentration in patients (177 pmol/L) was significantly lower (p < 0.001) than in the controls (334.7 pmol/L). The tHcy and MMA levels were significantly increased (p < 0.001 and p = 0.011, respectively) and folate levels were significantly decreased (p = 0.001) in the LSG patients compared to the controls. Interestingly, no significant difference in MCA levels were observed between the two groups. The levels of tHcy and MMA were concomitantly increased with the decreased folate levels in postoperative LSG patients when compared with the controls. The Hb levels were significantly lower in males and females in the patient group compared with those in the control group, respectively (p = 0.005 and p = 0.043). Conclusions: This is the first report of serum levels of B12 and its functional biomarkers in postoperative LSG patients among a local population from the UAE. Our findings revealed significant alterations of the B12 biomarkers, total B12, MMA, and tHcy in one-year postoperative LSG patients.


2020 ◽  
Vol 4 (Supplement_2) ◽  
pp. 320-320
Author(s):  
Kenza Drareni ◽  
Moustafa Bensafi ◽  
Helene Lusson ◽  
Damien Vansteene ◽  
Agnès Giboreau ◽  
...  

Abstract Objectives Given the influence of sensory signals on food intake regulation and the subsequent nutritional status, it is important to reduce the impact of commonly observed smell and taste alterations on the pleasure of eating during chemotherapy. This study aimed to examine the effect of various types of flavor enhancement on the appreciation of an appetizer by a group of patients undergoing chemotherapy. Methods Five eggplant appetizers with no seasoning (REF) or enhanced with either salt, lemon, garlic or cumin were developed. In this cross-sectional study, 36 healthy female subjects (age 58 ± 7 y) (control group) and 84 breast cancer patients (age 56 ± 11 y) treated with chemotherapy were recruited. A hierarchical cluster analysis based on patients' self-reported smell and taste abilities classified the patients in two groups: the ‘unaltered, (high sensory abilities) n = 49’ and the ‘altered, (poor sensory abilities), n = 35’ group. Participants tasted and assessed the appreciation of the reference appetizer on a visual analog scale and performed a randomized comparative liking task, by rating the appreciation for each flavor-enhanced appetizer relative to the REF (one-sample t-test). Results There was no significant difference in the appreciation of the REF appetizer between the three groups (P &gt; 0.05). In the comparative liking task, the control group rated similarly the appreciation between the flavor-enhanced and the REF appetizers except for the cumin-enhanced appetizer, which was appreciated significantly more than the REF (P &lt; 0.001). Patients in both ‘altered’ and ‘unaltered’ groups appreciated similarly the cumin appetizer (P &gt; 0.05), more the salt and garlic-enhanced appetizers (P ≤ 0.001, P = 0.005, respectively) and significantly less the lemon-enhanced appetizer relative to the REF (P = 0.029), confirming a tendency for patients to reject acid-flavored foods. Conclusions The salt and garlic enhancements were appreciated by the patients independent of the stage of chemotherapy or the severity of smell and taste alterations. Flavor enhancement seems a good strategy to maintain the pleasure of eating in patients undergoing chemotherapy. Further research is still needed on the appreciation and intake of a complete meal (starter, main course, dessert). Funding Sources APICIL and ELIOR groups.


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