Ectodermal Dysplasia Showing the Clinical Overlap between Hay Wells Syndrome and Bowen Armstrong Syndrome

Background: Several clinical entities combine ectodermal dysplasia (ED) and cleft lip and/or palate (CL/P). These disorders have been recognized with a narrow phenotypic spectrum and very similar clinical features. Case Presentation: We report a case with a clinical diagnosis of Hay Wells syndrome (ankyloblepharon, ED and CL/P), who is a descendent of a mother with Bowen Armstrong syndrome (ED, CL/P, mental retardation). Conclusion: Due to the clinical similarities, we suggest that Hay Wells syndrome and Bowen Armstrong syndrome may be the same clinical entity with variable manifestations. This case highlights the difficulties in trying to classify the ED syndromes on clinical features

CARDIOMIOPATIA DILATATIVĂ LA COPIL – ASPECTE EVOLUTIVE SUB TRATAMENT CU CARVEDILOL

În cardiomiopatiile dilatative, carvedilolul poate reprezenta o resursă terapeutică, dar experienţa la copil este limitată. Obiective. Studiul evoluţiei clinice şi ecocardiografi ce a cardiomiopatiilor dilatative ale copilului neresponsive la tratamentul convenţional cu inhibitori ai enzimei de conversie ai angiotensinei, diuretice, digoxin, care au necesitat asocierea carvedilolului; studiul farmacocineticii carvedilolului la copii. Material şi metodă. 16 copii cu cardiomiopatie dilatativă severă şi fracţie de ejecţie a ventriculului stâng ≤ 31% au fost evaluaţi clinic prin scor ROSS / NYHA şi ecocardiografi c. Măsurarea carvedilolului în plasma umană s-a efectuat la 7 subiecţi, utilizând cromatografi a de lichide de înaltă performanţă, asociată cu spectrometria de masă, metoda standardului extern. Rezultate. Dintre cei 16 copii cu cardiomiopatii dilatative trataţi cu carvedilol ca medicaţie adjuvantă terapiei convenţionale, 14 au evoluat spre ameliorare clinică şi ecocardiografi că şi doi spre deces. Clinic, copiii au tolerat bine carvedilolul, scorul NYHA s-a ameliorat, iar fracţia de ejecţie a ventriculului stâng a crescut de la sub 31%, la peste 40%. Studiul farmacocineticii carvedilolului a dovedit că viteza de absorbţie nu se modifi că odată cu creşterea dozei administrate. Timpul de atingere a concentraţiei maxime a fost identic pentru toţi subiecţii. Timpul de înjumătăţire mediu a fost de 2,88 ore, mai mic decât la adulţi. Timpul mediu de rezidenţă al carvedilolului în organism a fost 4,28±1,52 ore. Concluzii. La vârsta pediatrică, cardiomiopatiile dilatative neresponsive la tratament convenţional cu inhibitori ai enzimei de conversie ai angiotensinei, diuretice, digoxin au benefi ciat de adiţionarea carvedilolului, cu ameliorarea scorului NYHA/ROSS şi a fracţiei de ejecţie a ventriculului stâng. Studiul farmacocineticii carvedilolului la copii a evidenţiat timpul de înjumătăţire mediu al carvedilolului de 2,88 ore şi timpul mediu de rezidenţă în organism de 4,28±1,52 ore

The importance of determining human leucocyte antigens in preventing intestinal lymphoma in patients with celiac disease

Identification of celiac disease, by determining human leucocyte antigens DQ2/DQ8, is important since recent long-term studies have shown that the mortality of celiac disease is increased, if it is unrecognized and untreated. In this sense, we wanted to see the usefulness of genetic tests in celiac disease diagnosis and screening. Material and methods. During 2010 we determined by PCR, DQ2/DQ8 haplotype, in a group of 27 children with celiac disease and 9 of their brothers, serologically negative for celiac disease. Results. 22 children and 7 of their brothers confirmed the diagnosis of celiac disease, DR3-DQ2 haplotype was predominant in children with celiac disease and DR4-DQ8 to their brothers. Conclusions. Genetic testing to determine human lecocyte antigens remain the most reliable test in the diagnosis of celiac disease but also in identifying family risk for people with celiac disease

THE PREVALENCE OF CONGENITAL HEART DISEASES AMONG ROMANIAN CHILDREN — EXPERIENCE OF A SINGLE CENTER

Aim. Congenital heart defects (CHD) are the leading cause of infant mortality becoming an important public health problem. Time trends in CHD by specific phenotype and with long follow-up time are rarely available for a large pediatric population.Material and methods. We present the prevalence of CHD over the past 5 years among Romanian children. Individuals with CHDs were classified by several criteria including type of pathology, association of the pathology with various syndromes and abnormalities, postnatal complications or treatment.Results. The overall CHD birth prevalence increased. Generally, prevalence increased for defects diagnosed in infancy and preschoolers patients. Isolated septal defects such as atrial septal defect (ASD) was present in 29,69% of patients while transposition of the great vessels was present in 1,87% of children, respectively. Among the severe defects, tetralogy of Fallot — atresia/hypoplasia of the pulmonary artery association showed the largest prevalence. Considering the syndromatic CHD, the highest incidence (78,78%) was recorded for Down syndrome, followed by Turner syndrome. The most frequent postnatal complication in CHD patients was cardiomegaly, followed by pulmonary hypertension. Only 29,94% of the patients underwent corrective surgery, the rest remained on medication. The highest incidence rate was recorded for tetralogy of Fallot (42,85%), followed by isolated septal defects. On average, tetralogy of Fallot cases were operated on 16,6 months after diagnosis while transposition of the great vessels after 2,5 months.Conclusion. The increasing prevalence of CHDs reported was confirmed in the present study. This is mostly due to an increasing number of isolated septal defects diagnosed in infancy. In the future, the etiology of CHD needs to be further clarified and prospective birth defect registries covering the a large population are needed to determine the exact birth prevalence of CHD

Asistenta maternala pentru copilul de varsta mica. Metodologie, standarde, proceduri/ Foster Care for Small Child. Methodology, Standards, Procedures (Romanian Version)

The work has practical applications in social work and is addressed to specialists working in child and family protection, decision factors, foster care, those who are included in various training programs. No. pg. 136Foster Care for Small Child, child and family protection, training programs

SARS-CoV-2 outbreak in immune-mediated inflammatory diseases : the Euro-COVIMID multicentre cross-sectional study

© 2021 Elsevier Ltd. All rights reservedBackground: The COVID-19 pandemic has raised numerous questions among patients with immune-mediated inflammatory diseases regarding potential reciprocal effects of COVID-19 and their underlying disease, and potential effects of immunomodulatory therapy on outcomes related to COVID-19. The seroprevalence of SARS-CoV-2 and factors associated with symptomatic COVID-19 in patients with immune-mediated inflammatory diseases are still unclear. The Euro-COVIMID study aimed to determine the serological and clinical prevalence of COVID-19 among patients with immune-mediated inflammatory diseases, as well as factors associated with COVID-19 occurrence and the impact of the pandemic in its management. Methods: In this multicentre cross-sectional study, patients aged 18 years or older with a clinical diagnosis of rheumatoid arthritis, axial spondyloarthritis, systemic lupus erythematosus, Sjögren's syndrome, or giant cell arteritis were recruited from six tertiary referral centres in France, Germany, Italy, Portugal, Spain, and the UK. Demographics, comorbidities, treatments, and recent disease flares, as well as information on COVID-19 symptoms, were collected through a questionnaire completed by participants. SARS-CoV-2 serology was systematically tested. The main outcome was the serological and clinical prevalence of COVID-19. Factors associated with symptomatic COVID-19 were assessed by multivariable logistic regression, and incidence of recent disease flares, changes in treatments for underlying disease, and the reasons for treatment changes were also assessed. This study is registered with ClinicalTrials.gov, NCT04397237. Findings: Between June 7 and Dec 8, 2020, 3136 patients with an immune-mediated inflammatory disease answered the questionnaire. 3028 patients (median age 58 years [IQR 46-67]; 2239 [73·9%] women and 789 [26·1%] men) with symptomatic COVID-19, serological data, or both were included in analyses. SARS-CoV-2 antibodies were detected in 166 (5·5% [95% CI 4·7-6·4]) of 3018 patients who had serology tests. Symptomatic COVID-19 occurred in 122 (4·0% [95% CI 3·4-4·8]) of 3028 patients, of whom 24 (19·7%) were admitted to hospital and four (3·3%) died. Factors associated with symptomatic COVID-19 were higher concentrations of C-reactive protein (odds ratio 1·18, 95% CI 1·05-1·33; p=0·0063), and higher numbers of recent disease flares (1·27, 1·02-1·58; p=0·030), whereas use of biological therapy was associated with reduced risk (0·51, 0·32-0·82; p=0·0057). At least one disease flare occurred in 654 (21·6%) of 3028 patients. Over the study period, 519 (20·6%) of 2514 patients had treatment changes, of which 125 (24·1%) were due to the pandemic. Interpretation: This study provides key insights into the epidemiology and risk factors of COVID-19 among patients with immune-mediated inflammatory diseases. Overall, immunosuppressants do not seem to be deleterious in this scenario, and the control of inflammatory activity seems to be key when facing the pandemic.Pfizer, Sanofi, Amgen, Galapagos, and Lilly funded this study through unrestricted grants.info:eu-repo/semantics/publishedVersio