Atopic dermatitis in early life and pain at 10 years of age: An exploratory study.

Pain is a distinctive burden in atopic dermatitis and recognized as an important and highly prevalent symptom. It is unknown if the presence of atopic disease may sensitize children to adverse pain profiles in the long term. We aimed to assess the impact of early-life atopic dermatitis-like symptoms on pain at 10 years of age. We used data from 1302 and 874 participants of the Generation XXI birth cohort evaluated at 6 and 15 months, respectively, and 10 years. Atopy-like symptoms since birth, including atopic dermatitis, were collected at ages 6 and 15 months by interviewing parents. Pain history in the last 3 months at age 10 was collected from parents and children using structured questionnaires. We computed relative risks (RR) and respective 95% confidence intervals of pain features at age 10 according to each atopic-like symptom at 6 and 15 months. Children whose parents reported atopic dermatitis-like symptoms at 6 months and at 15 months had higher risk of reporting any pain (RR 1.75 [1.15-2.66]) and multisite pain, respectively (RR 1.67 [1.18-2.37]) at 10 years of age.  Conclusion: Atopic dermatitis symptoms in early life were associated with a higher risk of pain at age 10, suggesting that potential for sensitization during the first decade of life and highlighting the importance of improving the health care of children with atopic dermatitis is worth investigating. What is Known: • Atopic disorders have been associated with many non-atopic comorbidities, including chronic pain. • Pain and atopic dermatitis share common inflammatory pathways. Inflammation, injury to the skin from scratching, fissures, and intolerance to irritants related to atopic dermatitis can cause pain. What is New: • Atopic dermatitis in early life is linked to an increased likelihood of experiencing pain at the age of 10, which suggests that exploring the potential for sensitization is a worthwhile area of investigation. • Our proof-of-concept study highlights the potential benefit of studying management targets and improving itching and relieving skin pain as quickly as possible, avoiding potential long-term consequences of the sensitization process.

Potentially unrecognised pain in children: Population-based birth cohort study at 7 years of age.

AIM: To estimate agreement in the point prevalence of any pain, high-intensity pain and pain in two or more sites according to parental and child report. METHODS: We conducted a prospective study of 5639 children from a Portuguese birth cohort - Generation XXI, where parents and 7-year-old children answered the same questions at the same time. We assessed the accuracy of parental report, considering children's self-report as the gold standard. RESULTS: At 7 years of age, 499 children (8.8% (95% confidence interval (CI) 8.1-9.6)) reported having pain at the time of the interview. Of those, 44.1% had high-intensity pain (3.9% (95% CI 3.4-4.4) of the whole sample) and 12.4% reported pain in two or more sites (1.1% (95% CI 0.8-1.4) of the whole sample). In this community setting, pain prevalence and intensity were lower when collected from parents. Parental report had sensitivity below 20% and specificity above 95% but its positive predictive value was at most 25%. CONCLUSION: Our findings support that, outside acute care, parents have a specific but not sensitive report of children's pain at the age of 7 years. Their report seemed useful to exclude major complaints but limited to screen children's pain. This limitation was higher for more severe pain, that is two or more sites or high-intensity pain. Children should be asked directly about pain to avoid under-estimating paediatric pain.

Refining the prediction of multisite pain in 13-year-old boys and girls by using parent-reported pain experiences in the first decade of life.

BACKGROUND: We evaluated different pain profiles as prospective predictors of multisite pain in 13-year-old adolescents (1300 girls and 1457 boys) enrolled in Generation XXI, a birth cohort study in Portugal. METHODS: Pain history was queried using the Luebeck Pain Questionnaire through parent proxy- (ages 7 and 10) and adolescent (age 13) self-reports. We estimated the risk of multisite pain (2 or more pain sites) at age 13, according to previous pain experiences, including accumulation and timing. We defined five profiles that combined adverse features at ages 7 and 10 (recurrence, multisite, frequency, duration, intensity, triggers, activity restrictions, passive coping, and family history) and estimated their relative risks (RR) and likelihood ratios (LR) for adolescent multisite pain. RESULTS: At age 13, 39.2% of girls and 27.2% of boys reported multisite pain in the previous three months. The risk was higher among girls with multisite and recurrent pain at ages 7 and 10 than in girls without those adverse features, especially if psychosocial triggers were also present (RR 1.87; 95% confidence interval 1.36, 2.36 and LR 3.49; 1.53, 7.96). Boys with recurrent pain of higher frequency and causing activity restrictions at ages 7 and 10 had a higher risk of multisite pain at 13 (RR 2.05; 1.03, 3.05 and LR 3.06; 1.12, 8.39). Earlier adverse experiences were more predictive of future pain in girls than in boys. CONCLUSIONS: Different profiles were useful to rule in future multisite pain in boys and girls. This provides clues for early stratification of chronic pain risk. SIGNIFICANCE: We identified sex-specific pain features that can be collected by practitioners in the first decade of life to improve the stratification of children in terms of their future risk of a maladaptive pain experience in adolescence. Using a prospective population-based cohort design, we show that early multisite pain and psychosocial triggers are relevant predictors of future multisite pain in girls, whereas repeated reports of high-frequency pain leading to activity restrictions are predictive of adolescent multisite pain in boys.

Coarctation of Aorta in Turner Mosaicism.

The prevalence of hypertension in the pediatric age range is estimated at 1-5% worldwide, with higher rates in adolescence. Although primary hypertension is more common, due to the increasing prevalence of obesity and metabolic syndrome among adolescents, secondary hypertension should be always considered and excluded. We present the case of an adolescent with secondary hypertension and a challenging diagnosis associated with coarctation of aorta and Turner Mosaicism.

Pulmonary embolism in pediatric age: A retrospective study from a tertiary center.

INTRODUCTION: Pediatric pulmonary embolism (PE) is rare but associated with adverse outcomes. We aimed to characterize PE cases admitted in a tertiary hospital and to evaluate sensitivity of selected PE diagnostic prediction tools. METHODS: Retrospective, descriptive study of PE cases admitted from 2008 to 2020 using data collected from hospital records. Patients were grouped according to PE severity and setting (outpatients vs. inpatients). Links and correlation with demographic characteristics, risk factors, clinical presentation, management, and outcomes were analyzed. PE diagnostic prediction tools were applied. RESULTS: Twenty-nine PE episodes occurred in 27 patients, 62.9% female, mean age 14.1 years. Most PE were central and split between massive or submassive. One was diagnosed in autopsy. Twenty outpatients, all adolescents, were admitted for classic PE symptoms; in half of them the diagnosis had been previously missed. Risk factors included contraceptives (65%), thrombophilia (35%), obesity (20%) and auto-immunity (20%). Eight inpatients, diagnosed during cardiorespiratory deterioration (n = 5), or through incidental radiological findings (n = 3), were younger and had immobilization (87.5%), complex chronic diseases (75%), infections (75%) and central venous catheter (62.5%) as risk factors. Retrospectively, d -dimer testing and adult scores performed better than pediatric scores (sensitivity 92.9%-96% vs. 85.7%-92.9%). Both pediatric scores missed a case with a positive family history. DISCUSSION: Pediatric PE diagnosis is often delayed or missed. Development of pediatric prediction tools from validated adult scores merits being explored. We argue clinical presentation and risk factors may be different in inpatients and outpatients and propose broader reliance on family history.

Wolfram syndrome: Portuguese research.

INTRODUCTION: Wolfram syndrome (WFS) is a neurological and endocrinological degenerative disorder, also known as DIDMOAD (Diabetes Insipidus, early-onset Diabetes Mellitus, progressive Optic Atrophy, and Deafness) syndrome. It is an autosomal recessive disorder, mostly involving the Wolfram syndrome 1 gene (WFS1). The phenotypic pleiomorphism, rarity, and molecular complexity complicate the follow-up of these patients. MATERIAL AND METHODS: We aimed to describe the clinical characteristics and the follow-up of 11 patients with this disorder. We retrospectively analysed all WFS patients diagnosed between 1990 and 2020 in the Centro Hospitalar São João, a tertiary hospital in Northern Portugal. RESULTS: Eleven patients were included. Four patients had all 4 components of DIDMOAD. The presentation was diabetes mellitus (DM) in 9 patients, optic atrophy (OA) in another patient, and diabetes insipidus (DI) in another one. The median age of DM and OA diagnosis was 6 and 14 years, respectively. Nine patients had diabetes mellitus, and the other 2 patients had impaired glucose tolerance. All patients had OA. Four patients presented DI, all of them diagnosed in adolescence. Four patients had hearing impairment, 5 had urological abnormalities, 5 had neurological disorders, and 8 had psychiatry disorders. Eight patients had a broad spectrum of recessive mutations in WFS1. CONCLUSION: The information obtained in this study can facilitate further research in an attempt to improve prevention strategies for this devastating disease.

Clinicopathological features of neonatal subcutaneous fat necrosis and its implications.

Not required for Clinical Vignette.

Orofacial clefts associated with cardiac anomalies: 27 years of experience of a multidisciplinary group in a tertiary hospital in Portugal / Fendas orofaciais associadas a anomalias cardíacas: 27 anos de experiência de um grupo multidisciplinar em um hospital terciário em Portugal

AIMS: Orofacial clefts (OFC) are a heterogeneous group of birth defects arising in about 1.7/1000 newborns. They can occur with other congenital anomalies, including heart defects. We aim to describe a population with orofacial clefts and associated cardiac anomalies. METHODS: Retrospective study of patients attended in the Cleft Lip and Palate Multidisciplinary Group outpatient clinic at Hospital Universitario São João, Porto-Portugal. Medical records from January 1992 through December 2018 were reviewed. Patients were divided into four groups according to the Spina classification: cleft lip (CL), cleft lip and palate (CLP), isolated cleft palate (CP) and atypical cleft (AC). Further categorization included gender, affected relatives, associated congenital anomalies and syndromes. RESULTS: From the 588 patients included, 77 (13%) presented cardiac anomalies. Of those with orofacial cleft and cardiac anomalies, 53% were males and 17% had known affected relatives. CP was the most common cleft among patients with cardiac anomaly (~56%). Additional congenital anomalies were found in 89.7% of patients, namely facial defects, central nervous system, renal and skeletal malformations. A recognizable syndrome was identified in 61.5%, being Pierre-Robin the most common (n=22), followed by 22q11.2 microdeletion (n=9). Bothadditional congenital anomalies and recognizable syndromes were significantlymore prevalent in patients with heart disease (p<0.05). The main groups of cardiac anomalies were left-to-right shunt (n=47) and right ventricular outflow tractobstruction (n=14). From these, 26 had a ventricular septal defect, 15 atrial septal defect and seven patients had tetralogy of Fallot. Five patients had dysrhythmias. CONCLUSIONS: Due to the high prevalence of cardiac anomalies in the cleft population, a routine cardiac evaluation should be performed in all these patients.

INTRODUÇÃO: As fendas lábio-palatinas são um grupo heterogêneo de defeitos congênitos que ocorrem em cerca de 1,7 / 1000 recém-nascidos. Eles podem ocorrer com outras anomalias congênitas, incluindo defeitos cardíacos. O nosso objetivo é descrever uma população com fendas lábio-palatinas e anomalias cardíacas associadas. MÉTODOS: Estudo retrospectivo de doentes seguidos pelo Grupo Multidisciplinar de Fendas Lábio-Palatinas no Hospital Universitário São João, Porto-Portugal. Foram analisados os prontuários médicos de janeiro de 1992 a dezembro de 2018. Os doentes foram divididos em quatro grupos, de acordo com a classificação de Spina: fenda labial (CL), fenda labial e palatina (CLP), fenda palatina isolada (PC) e fenda atípica (CA). Outras categorizações incluíram sexo, parentes afetados, anomalias e síndromes congênitas associadas. RESULTADOS: Dos 588 pacientes incluídos, 77 (13%) apresentaram anomalias cardíacas. Daqueles com fenda e anomalias cardíacas, 53% eram do sexo masculino e 17% tinham parentes afetados. A PC foi a fenda mais comum entre os doentes com anomalia cardíaca (aproximadamente 56%). Anomalias congénitas adicionais, como defeitos faciais, malformações do sistema nervoso central, renais e esqueléticas foram encontradas em 89,7%. Síndromes foram identificadas em 61,5%, sendo Pierre-Robin a mais comum (n = 22), seguida pela microdeleção 22q11.2 (n = 9). Anomalias congénitas adicionais e a presença de uma síndrome genética foram significativamente mais prevalentes em doentes com doença cardíaca associada (p <0,05). Os principais grupos de anomalias cardíacas foram shunt da esquerda para a direita (n = 47) e obstrução da via de saída do ventrículo direito (n = 14). Destes, 26 apresentaram comunicação interventricular, 15 comunicação interauricular e sete pacientes apresentaram tetralogia de Fallot. Cinco pacientes apresentaram disritmias. CONCLUSÕES: Devido à elevada prevalência de anomalias cardíacas na população de doentes com Fenda Lábio-Palatina, aconselhamos uma avaliação cardíaca de rotina em todos.