Single centre observational study evaluating the impact of introducing High Flow Nasal Cannula outside of Paediatric Critical Care Unit.

AIM: To evaluate the impact of High Flow Nasal Cannula (HFNC) introduction outside of Paediatric Critical Care Units (PCCU), on PCCU admissions and intubation rates. Secondarily, to identify escalation predictors. METHODS: Retrospective observational study with matched PCCU admissions and intubation rates, 2-years before (Group 1) and 2-years after (Group 2) HFNC introduction outside of PCCU. Within Group 2, we compared those admitted to PCCU (escalation) and those who did not (non-escalation). Observations, change in observations and time to starting HFNC were analysed. RESULTS: Pre- and post-introduction comparison: Of 980 admissions in Group 1, 55 were admitted to PCCU, whereas of 1209 admission in Group 2, there were 85 admissions, P = 0.188. Group 1 had 25 intubations compared to 23 in Group 2, P = 0.309. Over twice as many children had some form of respiratory support in Group 2. Post-introduction: 104 children commenced HFNC, 72% for bronchiolitis. Median age was 4 months in the non-escalation group and 6.5 months in the escalation group, P = 0.663. Thirty-eight children escalated to PCCU: 33 required CPAP/BiPAP, 4 were intubated with 1 remaining on HFNC. Comparisons of age, gender, comorbidities, observations, change in observations and time to starting HFNC showed no significant escalation predictors. CONCLUSIONS: This study identified no statistically significant predictors of escalation. There was an observed increase in PCCU admissions with decreased intubations. The resource implications of this therapy are significant and further studies should examine cost effectiveness of HFNC use outside of PCCU.

Clinical outcomes of a cohort of 271 patients with lung metastases from differentiated thyroid carcinoma.

CONTEXT: Lung is the most common site of distant metastases from differentiated thyroid carcinoma (DTC). OBJECTIVE: To investigate the outcomes of a cohort of patients with DTC and lung metastases (LM). METHODS: A retrospective analysis of a cohort of 271 patients with LM was performed. RESULTS: The female-to-male ratio was 1:1 and the median follow-up time was 5.9 (1.1-38.4) years. Papillary thyroid carcinoma (PTC) was the most frequent type (83.4%), mainly the classic variant, followed by follicular thyroid carcinoma (FTC, 10.3%) and Hürthle cell carcinoma (HTC, 6.3%). The prevalence of PTC, FTC and HCC was different between the micronodular and macronodular LM groups [87.4%, 6.3% and 6.3% vs. 74.6%, 19.0% and 6.3%, respectively (p = .013)]. Only 5.0% of the patients had LM diagnosed after a period of remission. LM were submitted to radioactive iodine treatment (RAIT) in 84.5% (52.8% showed 131 iodine avid metastases). Complete remission was only achieved in 12.2%. Micronodular disease and age <55 years at LM diagnosis were associated with a better prognosis (p < .05). We found no difference in survival between patients with LM treated or not with RAIT. However, in patients submitted to RAIT, there was a tendency for longer survival in the group of patients with 131 I avid lesions. CONCLUSION: The classic variant of PTC was the most frequent histology found in LM of DTC. LM are rarely diagnosed in the follow-up when complete remission is achieved after surgery and 131 I. Younger age at LM diagnosis and a micronodular pattern are associated with a better prognosis.

Long-term clinical sequelae and socio-professional performance in craniopharyngioma patients.

BACKGROUND: Craniopharyngioma (CP) is a rare tumor, leading to several post-treatment sequelae which may have significant clinical and social implications, including impaired academic performance or employability. METHODS: We conducted a retrospective study involving CP patients followed at our center between 1986 and 2020. Data on demographics, clinical, imaging, and treatment characteristics were collected from the clinical records. RESULTS: There were 33 patients (current mean age of 49.8±18.7 years), being 22 diagnosed in adulthood. The average follow-up duration was 16.03±9.3 years. Twelve patients were treated with surgery alone, while 21 underwent surgery and radiotherapy. Pituitary and hypothalamic deficits were more frequent in treated with surgery, whereas visual defects and metabolic diseases were more frequent in treated with surgery and radiotherapy. There were no differences between age of onset groups and type of sequelae. After diagnosis, nine patients concluded their academic training. In childhood-onset group, after diagnosis, one patient was retired, three continue studying and the others concluded schooling. In the other group, six patients were retired and two concluded schooling. There was no association between academic performance or employability and the type of treatment. CP patients academic performance was not worse comparing with general Portuguese population. CONCLUSIONS: Long-term sequelae may not be related with the age of CP onset, but may vary according to the type of treatment. There was a wide variety of clinical sequelae with extended follow-up, however academic performance and employability seemed not affected. CP diagnosis in an early period of life may not compromise the academic success of patients.

Autosomal dominant hypocalcaemia: identification of two novel variants of CASR gene.

Autosomal dominant hypocalcaemia is a rare aetiology of hypocalcaemia, caused by gain-of-function mutations of the calcium-sensing receptor (CASR) gene. We present two cases of two asymptomatic women (50-year-old-case 1 and 25-year-old-case 2), referred to our endocrinology department for investigation of hypocalcaemia, hyperphosphatemia and inappropriately low parathormone. Both patients had relatives with the same laboratorial findings. At diagnosis, both patients presented basal ganglia calcifications. Genetic analysis was performed, identifying two novel heterozygous CASR variants: c.2269G>A (p.Glu757Lys) and c.2086C>G (p.Leu696Val), respectively, for case 1 and case 2. Affected individuals started oral calcium and vitamin D analogues, aiming to a low-normal calcium level. They remain under observation and are asymptomatic.

Clinical Scenarios of the Application of Electrical Impedance Tomography in Paediatric Intensive Care.

EIT is a radiation-free functional modality that enables bedside imaging and monitoring of lung function and expansion. Clinical interest in this method has been driven by the need for bedside monitoring of the dynamics of the lungs and the effects of ventilatory manoeuvres, including changes in ventilator settings, suctioning, chest drains, positioning and physiotherapy. We aimed to describe the use of Electrical Impedance Tomography (EIT) as a clinical tool in a tertiary Paediatric Intensive Care unit. Children requiring intensive care with a variety of clinical conditions had an electrode belt with 16 electrodes wrapped around the chest, which sequentially applied a small alternating current from each electrode pair. The signal gives information on both real time, regional, global, and relative data. With the correct application, and understanding of the monitor, much clinical information can be gained, with potentially significant patient benefit. We present the clinical use of EIT in six conditions: Asthma, Ventilation weaning and expansion recoil, Sequential Lobar Collapse, Targeted Physiotherapy, Pleural Effusion assessment, and PEEP optimisation. Screenshots and analyses are offered displaying the pragmatic use of this technology. Electrical Impedance Tomography is a clinically useful tool on the Paediatric Intensive Care unit. It allows monitoring of a patient's respiratory function in ways which are not possible through any other means. An understanding of respiratory physiology will allow use of this information to improve patient outcomes.

Calcitonin Screening in Nodular Thyroid Disease: Is There a Definitive Answer?

INTRODUCTION: Calcitonin (Ctn) is a hormone secreted by thyroid "C" cells and is considered an excellent marker for medullary thyroid carcinoma (MTC). However, the use of Ctn to screen patients with nodular thyroid disease (NTD) remains controversial. OBJECTIVE: The aim of this work was to define the frequency of hypercalcitoninemia among NTD patients followed at a tertiary referral hospital. METHODS: A retrospective analysis was made of basal Ctn measurements and corresponding patients' records between January 2011 and December 2015. Hypercalcitoninemia was defined as > 10 pg/mL. Depending on the Ctn value, three groups were considered: G1, ≤10 pg/mL; G2, 10-100 pg/mL; G3, ≥100 pg/mL. RESULTS: Ctn was requested in an NTD context for 1,504 patients, 69 of whom had hypercalcitoninemia. Of these, 20 underwent surgery (G2, 11; G3, 9), and a histological diagnosis of MTC was established in 12 (G2, 3/27%; G3, 9/100%). Surgery was chosen based solely on Ctn levels in 7 cases, since only 5 had a positive cytology. CONCLUSIONS: Hypercalcitoninemia was found in 4.6% of NTD patients. Ctn levels ≥100 pg/mL were associated with a greater CMT risk than values between 10 and 100 pg/mL, reinforcing results from other groups. The need for an adequate interpretation of results as well as an appropriate selection of patients to surgery stresses the importance of endocrinologists requesting and interpreting results.

Short Stature on a Boy: Mosaicism with an Isodicentric Y Chromosome.

Mosaicism brings great variability into the clinical expression of numerical and structural chromosomal abnormalities. The phenotypic variability of 45,X/46,XY mosaicism extends from Turner syndrome to apparently physically normal males. We present a case of a 14-year-old adolescent with short stature and delayed puberty, who was admitted in a Paediatric Endocrinology outpatient clinic. After a careful investigation, he was found to have a 45,X/46,X,idic(Y)(p11.32) mosaicism. This case report emphasizes the wide range of etiologies that can be involved in short stature and that chromosomal study is an important tool when firstly approaching males with short stature, avoiding unnecessary tests. There is an important clinical need for gonadal follow-up in this situation and for support in the decision about sex of rearing and sex orientation, when justifiable.

Cervical Lymph Node Schwannoma-An Unexpected Diagnosis.

INTRODUCTION: Schwannomas-Schwann cells-originating tumors-may develop in many locations. However, primary schwannomas arising within lymph nodes are extremely rare, with only a few cases described to this date in the English literature. For the intranodal location, most of the cases are described in the abdominal cavity. In these cases, clinicians may consider and check for familial disorders, such as neurofibromatosis type 2 (NF2) and schwannomatosis also called neurofibromatosis type 3. Schwannomas are benign neoplasms. Histologically, differential diagnosis for spindle-cell lesions in lymph nodes is important and must be done carefully, mainly because they may be attributable to metastatic disease. We report a case of a primary schwannoma arising in a cervical lymph node. BACKGROUND: Primary schwannomas arising within lymph nodes are extremely rare, with only a few cases reported. Since they are benign neoplasms, the differential diagnosis with other intranodal spindle cell lesions, mostly malignant, is important. METHODS: An asymptomatic 69-year-old woman, previously submitted to left hemithyroidectomy for a benign folicular nodule, underwent thyroidectomy totalization following the identification of a large thyroid nodule in routine evaluation. RESULTS: Gross and microscopic examination and ancillary studies were consistent with the diagnosis of intranodal schwannoma. The patient had acquired bilateral hypoacusia. Therefore, type 2 neurofibromatosis was considered and vestibular schwannomas ruled out. CONCLUSION: Herein, we present the second case of a primary schwannoma in a cervical lymph node reported so far. The relevance of the differential diagnosis is highlighted.

Renovascular hypertension in an 8-year-old girl.

Secondary hypertension is the most common form of hypertension in childhood, particularly in the young age group: parenchymal disease and lesions of the renal artery account for the majority of such cases. Renal artery aneurysms (RAA) are rare and are usually diagnosed by Doppler ultrasonography or angiography performed in the investigation of specific clinical symptoms. We report herein a case of severe arterial hypertension in an 8-year-old girl arising from a large saccular RAA. Intravenous antihypertensive drugs were necessary to achieve blood pressure control and the final diagnosis was obtained from angio-CT scan and selective angiography that demonstrated a large saccular aneurysm of the left renal artery with parietal calcification. After confirmation of inexistent function of the entire left kidney by Tc99m-MAG3 renal isotope scan, nephrectomy was performed. The child's blood pressure further normalised and, 1 month after surgery, she had ceased any antihypertensive therapy.

Cardiopulmonary complications in a patient with bezoar.

We report a case of a 17-year-old institutionalised male with a medical history of fragile X syndrome, bilateral congenital glaucoma, cataracts and pica disorder. He was transferred to our paediatric intensive care unit owing to respiratory failure and hypotension. On transoesophageal echocardiogram, he presented left atrium compression. A CT of the thorax and mediastinum revealed an unknown heterogeneous material in the lumen of the stomach and oesophagus, with a lung parenchyma suggestive of alveolar foreign material. Endoscopic evaluation showed diaper fragments inside the oesophagus and stomach. Fragmentation and suction of diaper material was made. Medical treatment was performed with inotropic support, conventional mechanical ventilation and antibiotics.

High-frequency oscillatory ventilation in children: a 10-year experience.

OBJECTIVES: The aim of the study was to describe the experience with high-frequency oscillatory ventilation (HFOV) in a Portuguese Pediatric Critical Care Unit, and to evaluate whether HFOV allowed improvement in oxygenation and ventilation. METHODS: This was a retrospective observational cohort study of children ventilated by HFOV between January, 2002 and December, 2011. The following parameters were recorded: demographic and clinical data, and blood gases and ventilatory parameters during the first 48 hours of HFOV. RESULTS: 80 children were included, with a median age of 1.5 months (min: one week; max: 36 months). Pneumonia (n=50; 62.5%) and bronchiolitis (n=18; 22.5%) were the main diagnoses. Approximately 40% (n=32) of the patients developed acute respiratory distress syndrome (ARDS). Conventional mechanical ventilation was used in 68 (85%) of patients prior to HFOV. All patients who started HFOV had hypoxemia, and 56 (70%) also presented persistent hypercapnia. Two hours after starting HFOV, a significant improvement in SatO2/FiO2 ratio (128±0.63 vs. 163±0.72; p<0.001) that was sustained up to 24 hours of HFOV and a decrease in FiO2 were observed. Since the beginning of HFOV, the mean PCO2 significantly decreased (87±33 vs. 66±25; p<0.001), and the pH significantly improved (7.21±0.17 vs. 7.32±0.15; p<0.001). Overall survival was 83.8%. CONCLUSIONS: HFOV enabled an improvement in hypercapnia and oxygenation. It is a safe option for the treatment of ARDS and severe small airway diseases.

Noninvasive ventilation in acute respiratory failure from respiratory syncytial virus bronchiolitis. / Ventilação não invasiva na insuficiência respiratória aguda na bronquiolite por vírus sincicial respiratório.

OBJECTIVES: The present study focused on respiratory syncytial virus bronchiolitis with respiratory failure. The aim of the study was to determine whether noninvasive ventilation reduces the need for endotracheal intubation or slows the clinical progression of acute respiratory syncytial virus bronchiolitis by reducing the incidence of infectious complications. METHODS: The present study was a retrospective cohort study. Cohort A was comprised of children who were admitted to the pediatric intensive and special care unit from 2003-2005 before starting noninvasive ventilation; cohort B was comprised of children who were admitted to the pediatric intensive and special care unit from 2006-2008 after starting noninvasive ventilation. With the exception of noninvasive ventilation, the therapeutic support was the same for the two groups. All children who were diagnosed with respiratory syncytial virus bronchiolitis and respiratory failure between November 2003 and March 2008 were included in the cohort. Demographic, clinical and blood gas variables were analyzed. RESULTS: A total of 162 children were included; 75% of the subjects were less than 3 months old. Group A included 64 children, and group B included 98 children. In group B, 34 of the children required noninvasive ventilation. The distributions of the variables age, preterm birth, congenital heart disease, cerebral palsy and chronic lung disease were similar between the two groups. On admission, the data for blood gas analysis and the number of apneas were not significantly different between the groups. In group B, fewer children required invasive ventilation (group A: 12/64 versus group B: 7/98; p=0.02), and there was a reduction in the number of cases of bacterial pneumonia (group A: 19/64 versus group B: 12/98; p=0.008). There was no record of mortality in either of the groups. CONCLUSION: By comparing children with the same disease both before and after noninvasive ventilation was used for ventilation support, we verified a reduction in infectious complications and cases requiring intubation.

Non-invasive ventilation in acute respiratory failure in children.

The aim of this paper is to assess the clinical efficacy of non-invasive ventilation (NIV) in avoiding endotracheal intubation (ETI), to demonstrate clinical and gasometric improvement and to identify predictive risk factors associated with NIV failure. An observational prospective clinical study was carried out. Included Patients with acute respiratory disease (ARD) treated with NIV, from November 2006 to January 2010 in a Pediatric Intensive Care Unit (PICU). NIV was used in 151 patients with acute respiratory failure (ARF). Patients were divided in two groups: NIV success and NIV failure, if ETI was required. Mean age was 7.2±20.3 months (median: 1 min: 0,3 max.: 156). Main diagnoses were bronchiolitis in 102 (67.5%), and pneumonia in 44 (29%) patients. There was a significant improvement in respiratory rate (RR), heart rate (HR), pH, and pCO(2) at 2, 6, 12 and 24 hours after NIV onset (P<0.05) in both groups. Improvement in pulse oximetric saturation/fraction of inspired oxygen (SpO(2)/FiO(2)) was verified at 2, 4, 6, 12 and 24 hours after NIV onset in the success group (P<0.001). In the failure group, significant SpO(2)/FiO(2) improvement was only observed in the first 4 hours. NIV failure occurred in 34 patients (22.5%). Risk factors for NIV failure were apnea, prematurity, pneumonia, and bacterial co-infection (P<0.05). Independent risk factors for NIV failure were apneia (P<0.001; odds ratio 15.8; 95% confidence interval: 3.42-71.4) and pneumonia (P<0.001, odds ratio 31.25; 95% confidence interval: 8.33-111.11). There were no major complications related with NIV. In conclusion this study demonstrates the efficacy of NIV as a form of respiratory support for children and infants with ARF, preventing clinical deterioration and avoiding ETI in most of the patients. Risk factors for failure were related with immaturity and severe infection.

Giant tuberculoma in an adolescent: atypical form of tuberculosis.

A tuberculoma is a rare form of presentation of tuberculosis (TB) in children. We describe the case of a 13-year-old girl, with 3 weeks of progressive tiredness and asthenia and a 48 h fever and cough. Physical examination revealed diminished pulmonary sounds in the left lower hemithorax. A chest radiograph showed an oval hypotransparency image in this location. The TB skin test was anergic and sputum was negative for acid-fast bacilli (AFB). The thoracic CT revealed a cystic mass in the left lower half hemithorax, compressing the adjacent pulmonary lobe, with double non-calcificated membrane. The exeresis of the pulmonary mass was performed and the anatomopathological study revealed a tuberculoma with AFB. TB treatment was established with a favourable clinical and radiological evolution. TB is a prevalent disease around the world. In this case, due to the mass dimensions and adjacent-organ compression, surgery was essential for a favourable clinical evolution.

[Non invasive ventilation in a pediatric intensive care unit]. / Ventilação não invasiva numa unidade de cuidados intensivos pediátricos.

BACKGROUND: Non-invasive ventilation (NIV) is being increasingly used in children with acute respiratory failure, preventing complications associated with conventional mecánical ventilation. AIMS: To determinate the efficacy of NIV in children with acute respiratory failure or chronic respiratory failure. METHODS: Prospective study of all patients who underwent NIV (November 2005 to April 2008). Demographic data and the following parameters were analysed: Heart and respiratory rate, SaO2, blood gases evaluated before and at 1, 2, 6, 12, and 24 hours after NIV. RESULTS: One hundred and thirteen were included (116 NIV trials). Mean age 9,4 +/- 26,2 months (median: 1,5 months). CPAP used in 63 and BiPAP in 53 trials. DIAGNOSIS: bronchiolitis in 61 (52,6%), pneumonia in 36 (31,0%) patients. Indications for NIV: acute hypercapnic and/or hypoxemic respiratory failure in 109 (94%), apnoea (13), chronic pulmonary disease agudization (three), partial obstruction of upper airway (four). There was a significant improvement in respiratory and heart rates, pH, pCO2 at 1, 2, 4, 6, 12, 24 and 48 hours after NIV onset (p < 0,05) (table). Mean duration of NIV was 47,7 +/- 35,6 hours. Sedation with chloral hydrate was used in 58 (50%). Twenty eight patients (24,1%), required conventional mechanical ventilation (main reason: apnea+bradicárdia: 8). There were no major complications related with NIV. CONCLUSIONS: NIV can be effective in children and infants with acute respiratory failure, preventing some patients from deteriorating and/or from being ventilated.

H1N1 disseminated infection in a 3-month-old boy.

Earlier this year a new influenza virus emerged. In children, the clinical manifestations of H1N1 infection are similar to those reported during periods of seasonal influenza. We report on a 3-month-old boy with an upper respiratory tract infection who presented enteropathy, coagulopathy and encephalitis related to H1N1. The infection was confirmed in nasopharyngeal aspirate, stools and cerebrospinal fluid by real-time PCR. Treatment with oseltamivir was started.

Familial haemophagocytic lymphohistiocytosis: two case reports.

Haemophagocytic lymphohistiocytosis (HLH) is a life threatening inflammatory syndrome, which presents a highly stimulated but ineffective immune response with severe hypercytokinaemia. HLH, primary or secondary, is characterised by prolonged fever and hepatosplenomegaly associated with pancytopenia, hypertriglyceridaemia and hypofibrinogenaemia. However, the hallmark of HLH is impaired or absent function of natural killer cells and cytotoxic T lymphocytes. HLH presents major diagnostic difficulties, since it may have an incomplete and/or late onset and with many conditions leading to the same clinical picture. When untreated, it is fatal in all primary cases and in a high percentage of acquired cases. Awareness of the clinical picture and diagnostic criteria is thus important to start life saving treatment. We describe two cases of primary HLH, with significant differences in their clinical presentation and evolution.

Ventilação oscilatória de alta frequência em crianças: uma experiência de 10 anos / High-frequency oscillatory ventilation in children: a 10-year experience

OBJETIVOS: O objetivo do estudo foi descrever a experiência com ventilação oscilatória de frequência (VOAF) em uma unidade portuguesa de Cuidados Intensivos Neonatais e Pediátricos e avaliar se a VOAF permitiu uma melhoria na oxigenação e na ventilação. MÉTODOS: Estudo de coorte retrospectivo observacional em crianças submetidas À ventilação com VOAF entre janeiro de 2002 e dezembro de 2011. Os seguintes parâmetros foram registrados: dados demográficos e clínicos; gases sanguíneos; e parâmetros ventilatórios durante as primeiras 48 horas de VOAF. RESULTADOS: O estudo incluiu 80crianças com uma idade média de 1,5 mês (mínima: uma semana; máxima: 36 meses). Pneumonia (n = 50; 62,5%) e bronquiolite (n = 18; 22,5%) foram os principais diagnósticos. Cerca de 40% (n = 32) dos pacientes desenvolveram a síndrome da angústia respiratória aguda (SARA). A ventilação mecânica convencional foi utilizada em 68 (85%) pacientes antes da VOAF. Todos os pacientes que começaram a VOAF tiveram hipoxemia, e 56 (70%) também apresentaram hipercapnia persistente. Duas horas após o início da VOAF, foi observada uma melhoria significativa na proporção SatO2/FiO2 (128 ± 0,63 em comparação a 163 ± 0,72; p < 0,001), que foi mantida durante as 24 horas de VOAF, e uma redução da FiO2. Desde o início da VOAF, a PCO2 média teve uma queda significativa (87 ± 33 em comparação a 66 ± 25; p < 0,001) e o pH aumentou significativamente (7,21 ± 0,17 em comparação a 7,32 ± 0,15; p < 0,001). A sobrevida geral foi de 83,8%. CONCLUSÕES: A VOAF permitiu uma melhoria na hipercapnia e na oxigenação. Trata-se de uma opção segura no tratamento da SARA e de doenças graves das pequenas vias aéreas.

OBJECTIVES: The aim of the study was to describe the experience with high-frequency oscillatory ventilation (HFOV) in a Portuguese Pediatric Critical Care Unit, and to evaluate whether HFOV allowed improvement in oxygenation and ventilation. METHODS: This was a retrospective observational cohort study of children ventilated by HFOV between January, 2002 and December, 2011. The following parameters were recorded: demographic and clinical data, and blood gases and ventilatory parameters during the first 48 hours of HFOV. RESULTS: 80 children were included, with a median age of 1.5 months (min: one week; max: 36 months). Pneumonia (n = 50; 62.5%) and bronchiolitis (n = 18; 22.5%) were the main diagnoses. Approximately 40% (n = 32) of the patients developed acute respiratory distress syndrome (ARDS). Conventional mechanical ventilation was used in 68 (85%) of patients prior to HFOV. All patients who started HFOV had hypoxemia, and 56 (70%) also presented persistent hypercapnia. Two hours after starting HFOV, a significant improvement in SatO2/FiO2 ratio (128 ± 0.63 vs. 163 ± 0.72; p < 0.001) that was sustained up to 24 hours of HFOV and a decrease in FiO2 were observed. Since the beginning of HFOV, the mean PCO2 significantly decreased (87 ± 33 vs. 66 ± 25; p < 0.001), and the pH significantly improved (7.21 ± 0.17 vs. 7.32 ± 0.15; p < 0.001). Overall survival was 83.8%. CONCLUSIONS:HFOV enabled an improvement in hypercapnia and oxygenation. It is a safe option for the treatment of ARDS and severe small airway diseases.