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1.
Rev Med Liege ; 79(2): 104-109, 2024 Feb.
Artigo em Francês | MEDLINE | ID: mdl-38356427

RESUMO

Vasoreactive pulmonary arterial hypertension (PAH) in children is a form of idiopathic PAH that responds to vasoreactive testing with nitric oxide (NO) by a significant decrease of pulmonary vascular resistances and pressure. Oral calcium channel antagonists (CCA) that allow pulmonary arterial vasodilation are the treatment of choice. The therapeutic effect is strongly depending on adequate drug intake. In growing children, drug dose must be adapted to weight. In case of unavailability of low-dose pharmaceutical preparations, officinal formulations become mandatory. Officinal formulations may be related to a multitude of errors at different steps including prescription, transcription, preparation and administration. This may have life-threatening consequences for the child.To illustrate this, we report a case of a compounding error with underdosage of CCA, leading to acute cardiovascular failure in an adolescent with vasoreactive PAH.


L'hypertension artérielle pulmonaire (HTAP) vasoréactive chez l'enfant est une forme d'HTAP idiopathique qui répond au test de vasoréactivité au monoxyde d'azote (NO) par une diminution significative des pressions et résistances vasculaires pulmonaires. Le traitement de choix de cette forme d'HTAP est l'administration d'antagonistes des canaux calciques (ACC) par voie orale. Ce traitement entraîne une vasodilatation artérielle pulmonaire, elle-même étroitement dépendante de la prise adéquate du médicament. Chez les enfants en croissance, la dose du médicament doit être adaptée au poids. De façon générale, en l'absence de préparation à faible dose disponible dans les laboratoires pharmaceutiques, l'utilisation de formulations officinales devient obligatoire. De la prescription à l'administration, en passant par la transcription et la préparation, de nombreuses erreurs humaines et techniques peuvent survenir qui peuvent impacter la morbi-mortalité de l'enfant. Nous rapportons le cas d'une adolescente avec HTAP vasoréactive chez qui une erreur de préparation magistrale avec sous-dosage de l'ACC a conduit à une décompensation cardio-vasculaire aiguë et discutons de mesures préventives potentielles.


Assuntos
Hipertensão Pulmonar , Adolescente , Humanos , Bloqueadores dos Canais de Cálcio/efeitos adversos , Bloqueadores dos Canais de Cálcio/uso terapêutico , Hipertensão Pulmonar/tratamento farmacológico , Óxido Nítrico/uso terapêutico
2.
ERJ Open Res ; 9(5)2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37868147

RESUMO

Chronic mucus hypersecretion (CMH) is linked to increased asthma severity. Ciliary dyskinesia is present in severe asthma but CMH was not associated with a worse ciliary dysfunction, suggesting another mechanism to explain chronic cough and phlegm. https://bit.ly/3JNUgGr.

3.
Diagnostics (Basel) ; 13(18)2023 Sep 18.
Artigo em Inglês | MEDLINE | ID: mdl-37761341

RESUMO

Primary ciliary dyskinesia is a heterogeneous, inherited motile ciliopathy in which respiratory cilia beat abnormally, and some ultrastructural ciliary defects and specific genetic mutations have been associated with particular ciliary beating alterations. Ciliary beating can be evaluated using digital high-speed videomicroscopy (DHSV). However, normal reference values, essential to assess ciliary beating in patients referred for a PCD diagnostic, vary between centres, as minor variations in protocols might influence ciliary beating. Consequently, establishment of normal values is essential for each PCD diagnostic centre. We aimed to evaluate whether delay after sampling, and temperature for conservation of respiratory ciliated samples, might modify assessments of ciliary beating. In total, 37 healthy nasal brushing samples of respiratory ciliated epithelia were collected. Video sequences were recorded at 37 °C immediately using DHSV. Then, the samples were divided and conserved at 4 °C or at room temperature (RT). Ciliated beating edges were then recorded at 37 °C, at 3 h and at 9 h post sampling. In six samples, recordings were continued up to 72 h after sampling. Ciliary beating was assessed manually by ciliary beat frequency (CBFM) and ciliary beat pattern (CBP). A semi-automatic software was used for quantitative analysis. Both CBF and CBP evaluated manually and by a semi-automated method were stable 9 h after sampling. CBFM was higher when evaluated using samples stored at RT than at 4 °C. CBP and the semi-automated evaluation of ciliary beating were not affected by storage temperature. When establishing normal references values, ciliary beating can be evaluated at 37 °C up to 9 h after nasal brushing, but the storage temperature modifies ciliary beating and needs to be controlled.

4.
Rev Med Liege ; 78(7-8): 403-406, 2023 Jul.
Artigo em Francês | MEDLINE | ID: mdl-37560949

RESUMO

Aortic coarctation is a frequent congenital heart disease that presents in form of two entities, the infant type and the child or adult type. The infant type is the most frequent and manifests acutely by heart failure or shock. The second one shows a slow and progressive course with no or few initial symptoms. For that reason, the diagnosis is usually missed until symptomatic arterial hypertension or hypertrophic cardiomyopathy develop. We report the case of an initially asymptomatic boy in whom the development of an aortic coarctation could be precisely documented over a period of 10 years by repeated bidimensional and Doppler echocardiography. The patient underwent successful balloon angioplasty of the aortic isthmus and stent implantation. This case points out the importance of strict follow-up in any young child in whom an even mild anomaly of the aortic arch is detected. This is critical in order not to miss an aortic coarctation that influences significantly morbidity in adulthood.


La coarctation de l'aorte est une cardiopathie fréquente qui se présente sous deux formes distinctes, celle du nourrisson et celle du grand enfant ou de l'adulte. La première, plus fréquente, se manifeste de façon aiguë par une défaillance cardiaque, voire un choc cardiogénique alors que la seconde est d'évolution lente et paucisymptomatique. Pour cette raison, elle reste habituellement méconnue jusqu'à l'apparition d'une hypertension artérielle ou d'une cardiomyopathie hypertrophique symptomatique. Nous rapportons le cas d'un garçon présentant initialement des structures aortiques de petit calibre chez qui l'évolution d'une coarctation de l'aorte a pu être documentée de façon précise sur une période de 10 ans. L'échocardiographie bidimensionnelle et Doppler répétée a permis de montrer le développement de la sténose de l'isthme aortique alors que le patient ne présente pas de signes d'appel cliniques. Il bénéficiera de l'angioplastie au ballon de l'isthme aortique et de la mise en place d'un stent. Ce cas met en avant l'importance d'un suivi rigoureux des patients chez qui une anomalie, même très légère, de l'arc aortique est mise en évidence dans la petite enfance de façon à ne pas méconnaître une coarctation de l'aorte qui conditionne la morbidité de l'adulte de façon significative.


Assuntos
Angioplastia Coronária com Balão , Angioplastia com Balão , Coartação Aórtica , Insuficiência Cardíaca , Lactente , Masculino , Adulto , Criança , Humanos , Coartação Aórtica/diagnóstico por imagem , Resultado do Tratamento , Stents
5.
Pediatr Rep ; 15(2): 301-310, 2023 May 05.
Artigo em Inglês | MEDLINE | ID: mdl-37218926

RESUMO

Idiopathic pulmonary arterial hypertension (IPAH) is an uncommon and severe disease. We report the case of a 7-year-old boy investigated for cardiac murmur and exercise intolerance. Pulmonary hypertension (PH) was suspected at clinical examination and confirmed by echocardiography and cardiac catheterization. This case of pulmonary hypertension was classified as idiopathic given the negative etiological investigation. Vasoreactive testing with oxygen and nitric oxide was negative. Therefore, treatment with sildenafil (1.4 mg/kg/d) and bosentan (3 mg/kg/d) was initiated. This allowed the stabilization of, but not a decrease in, pulmonary artery pressure for the next 5 years, during which the patient's quality of life was significantly reduced. At a later follow-up, the estimated pulmonary pressure was found to have increased and become supra-systemic, with a consequent deterioration in the child's condition. This led to the decision to enter him into a clinical trial that is still ongoing. Idiopathic pulmonary arterial hypertension is a severe disease that can present with non-specific symptoms, such as asthenia and exercise limitation, which are important not to trivialize. The disease is associated with significantly decreased quality of life in affected children and carries a high burden in terms of mortality and morbidity. The current knowledge about IPAH in children is reviewed, with a particular focus on the future prospects for its treatment and the related quality of life of patients.

6.
Rev Med Liege ; 78(3): 130-136, 2023 Mar.
Artigo em Francês | MEDLINE | ID: mdl-36924149

RESUMO

We present the case of a young girl in whom pre-natal echocardiography showed double outlet right ventricle associated with severe infundibular- and pulmonary valve stenosis. The genetic testing has shown a mutation on the LZTR1 gene, which confirms the diagnosis of a Noonan Syndrome, also present in the mother and an elder sister. The infant was born premature at 34 weeks and 5 days of gestational age. During the neonatal period, feeding difficulties are noted linked to oral aversion and exacerbated by difficulties in the mother-child bond. At 1 month of age, the child presented hypoxic spells caused by the infundibular stenosis which required emergency aorto-pulmonary anastomosis placement ensuring sufficient pulmonary blood flow. This anastomosis needed to be replaced by a larger one at 9th month of age. The child is now 4 years old and has undergone a complete surgical correction. The multidisciplinary management englobes not only follow up in cardiology, genetics, neurology, ophthalmology and hematology but also feeding support and psychomotor development support. The socio-economic precariousness of the family leads to a constant assistance to allow the best possible development of the child.


Nous présentons le cas d'une fillette chez qui le diagnostic de cardiopathie congénitale de type ventricule droit à double issue avec communication interventriculaire, sténose infundibulaire et valvulaire pulmonaire sévères a été posé en période fœtale. Le bilan génétique a montré la présence d'une mutation du gène LZTR1, confirmant le diagnostic d'un syndrome de Noonan que présentent également la maman et une sœur aînée. L'enfant naît prématurément à 34 semaines et 5 jours d'aménorrhée. La période néonatale est marquée par des difficultés alimentaires liées à des troubles de l'oralité exacerbés par un attachement mère-enfant compromis. à l'âge de 1 mois, l'enfant présente des malaises hypoxiques en raison de la sténose infundibulaire nécessitant la mise en place en urgence d'une anastomose aorto-pulmonaire assurant un débit pulmonaire suffisant, anastomose qui devra être remplacée par une plus large à l'âge de 9 mois. La fillette actuellement âgée de 4 ans vient de bénéficier d'une cure chirurgicale complète. Le suivi multidisciplinaire comprend, outre les suivis cardiologique et génétique, le support à l'alimentation entérale, le suivi neurologique, ophtalmologique et hématologique ainsi que le soutien à la psychomotricité. La précarité psycho-socio-économique familiale nécessite une aide constante pour permettre à l'enfant d'évoluer favorablement dans son milieu familial.


Assuntos
Síndrome de Noonan , Estenose da Valva Pulmonar , Recém-Nascido , Lactente , Feminino , Humanos , Idoso , Pré-Escolar , Síndrome de Noonan/complicações , Síndrome de Noonan/diagnóstico , Síndrome de Noonan/genética , Ecocardiografia , Estenose da Valva Pulmonar/diagnóstico , Estenose da Valva Pulmonar/cirurgia , Estenose da Valva Pulmonar/complicações , Fatores de Transcrição
7.
Pediatr Rep ; 15(1): 237-244, 2023 Mar 17.
Artigo em Inglês | MEDLINE | ID: mdl-36976726

RESUMO

We report the case of an 11-year-old girl who complained about severe asthenia, orthostatic dizziness and abdominal pain for 4 weeks. The primary investigation concluded on febrile urinary tract infection treated by antibiotics. Symptom persistence prompted cardiological and endocrinological investigations. A fluctuation in blood pressure, long QT interval, dilation of the aortic root and left ventricular hypertrophy were documented. Elevated levels of urinary catecholamines together with the presence of a right-sided adrenal mass shown via abdominal ultrasound and magnetic resonance imaging were highly suggestive of a pheochromocytoma. This was confirmed by through iodine-123-metaiodobenzylguathdine ([123I]-mIBG) scintigraphy. Genetic analysis allowed for the exclusion of pathogenic mutations in genes implicated in hereditary paragangliomas and pheochromocytomas but showed a rare somatic mutation in exon 3 of the von Hippel-Lindau gene. The patient was treated with a ß-blocker and calcium channel antagonist and underwent laparoscopic right-sided adrenalectomy. Cardiac manifestations resolved soon after surgery indicating that they were secondary to the pheochromocytoma. After 5 years of follow-up, the patient remains asymptomatic without any sign of tumor recurrence. The presence of aortic root dilation, a prolonged QT-interval and left ventricular hypertrophy may be early cardiac manifestations of a pheochromocytoma in a child and should prompt this diagnosis to be evoked.

10.
Clin Pract ; 12(5): 677-685, 2022 Aug 26.
Artigo em Inglês | MEDLINE | ID: mdl-36136864

RESUMO

A 13-year-old girl with Jervell and Lange-Nielsen syndrome associated congenital long QT syndrome (LQTS) and central deafness was admitted for generalized seizures. LQTS had been diagnosed after birth and confirmed at genetic testing. ß-blocker treatment was immediately started. Despite this, since the age of 12 months, recurrent cerebral seizures occurred leading to the diagnosis of epilepsy. Anti-convulsive therapy was initiated but without success. At the last admission, nadolol dosage seemed infratherapeutic. Considering malignant ventricular arrhythmias as the cause of seizures, the ß-blocker dosage was adjusted to weight and levels of magnesium and potassium optimized. Furthermore, the patient received an implantable Medtronic Reveal LINQ Recorder®. Since then, the adolescent has been asymptomatic with no arrhythmia documented. LQTS is due to one or more mutations of genes coding for ion channels. It may induce malignant ventricular arrhythmias and is a major cause of sudden cardiac death in children. Generalized cerebral seizures are extra-cardiac manifestations caused by decreased cerebral perfusion during ventricular arrhythmia. They are commonly misinterpreted as manifestations of epilepsy. For any patient with known or unknown LQTS who presents seizures with resistance to anti-convulsive therapy, a cardiac electrophysiological investigation should be performed promptly to ensure etiological diagnosis and optimize treatment.

11.
Pediatr Rep ; 14(1): 106-114, 2022 Mar 03.
Artigo em Inglês | MEDLINE | ID: mdl-35324819

RESUMO

We report a case of severe pancytopenia in a 15-year-old patient due to a severe deficiency in vitamin B12 and folic acid, probably of nutritional origin. The clinical and biological course was favorable after vitamin supplementation. With this case, we discuss the diagnostic approach of pancytopenia with megaloblastic anemia in children and adolescents, as well as the mechanisms involved in vitamin B12 and B9 deficiency. Hypovitaminosis B12 is known in its severe form but its diagnosis is often made difficult by insidious signs and symptoms. Traditional intramuscular replacement therapy has now proven to be effective orally. The clinical manifestations of folic acid deficiency are relatively similar to those of vitamin B12 deficiency, reflecting their intricate co-enzymatic functions. Its supplementation is administered orally.

12.
Mol Cell Pediatr ; 9(1): 5, 2022 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-35307783

RESUMO

BACKGROUND: To examine whether uni-ventricular palliation (UVP) and bi-ventricular repair (BVR) result in a different pattern of systemic inflammatory response to pediatric cardiac surgery with extra-corporeal circulation (ECC). METHODS: In 20 children (median age 39.5 months) undergoing either UVP (n = 12) or BVR (n = 8), plasma levels of the inflammatory cytokines TNF-α, IL-6, IL-10, and IL-12 and of procalcitonin (PCT), were measured before, during and after open cardiac surgery up to postoperative day (POD) 10. RESULTS: Epidemiologic, operative- and outcome variables were similar in both groups but post-operative central venous pressure that was higher in UVP. In the whole cohort, the inflammatory response was characterized by an early important, significant and parallel increase of IL-6 and IL-10 that reached their peak values either at the end of ECC (IL-10) or 4 h postoperatively (IL-6), respectively and by a significant and parallel decrease of TNF-α and IL-12 levels after connection to ECC, followed by a bi-phasic significant increase with a first peak 4 h after ECC and a second at POD 10, respectively. Patients after UVP showed a shift of the cytokine balance with lower IL-6- (p = 0.01) after connection to ECC, lower early post-operative TNF-α - (p = 0.02) and IL-12- (p = 0.04) concentrations and lower TNF-α/IL-10-ratio (p = 0.03) as compared with patients with BVR. Levels of PCT were similar in both groups. CONCLUSIONS: UVP is associated with an anti-inflammatory shift of the inflammatory response to cardiac surgery that might be related to the particular hemodynamic situation of patients with UVP.

13.
Front Pediatr ; 9: 729198, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34631625

RESUMO

Background: Estrogen receptors (ERs) relate to cardio-protection in adults, but their role in younger patients is not known. We aimed to assess the myocardial expression of ERα- and ERß- mRNA in young patients with congenital cardiac disease and to analyze their putative protective role. Patients and Methods: Twenty children and young adults (seven females and 13 males) with a median age of 13.8 years (interquartile range: 12.3 years) were enrolled in this prospective study. The myocardial expression of ER-mRNA and genes involved in inflammation, growth, and stress response was assessed by real-time PCR and was correlated to post-operative (po) outcome. Results: ER-mRNA was detected in the myocardium of all patients, independently of gender and age. The expression of ER-mRNA correlated with that of mRNA coding for brain natriuretic peptide and for all cytokines tested. A higher ERα-mRNA expression correlated with lower troponin T concentrations at 24 h po (p = 0.032), higher PaO2/FiO2 ratio at 4 h po (p = 0.059), lower fluid retention at 4 h po (p = 0.048), and lower aspartate aminotransferase (AST) levels at 24 h po (p = 0.047). A higher ERß-mRNA expression was also correlated with lower fluid retention at 24 h po (p = 0.048). Patients in whom the levels of ERα- and ERß-mRNA were >P50 had lower troponin T (p = 0.003, respectively) and lower AST concentrations at 24 h po (p = 0.043, respectively) than the others. Conclusions: The expression of ERα- and ERß-mRNA is present in the myocardium of children and young adults with congenital cardiac defect and is associated with lower markers of po organ damage. This suggests that ERs may provide perioperative organ protection in this population.

14.
J Antimicrob Chemother ; 76(12): 3229-3236, 2021 11 12.
Artigo em Inglês | MEDLINE | ID: mdl-34499720

RESUMO

BACKGROUND: Intra-partum cefazolin is used to prevent group B Streptococcus (GBS) vertical transmission in mothers allergic to penicillin without a history of anaphylaxis. OBJECTIVES: To investigate the maternal cefazolin dose-exposure relationship and subsequent maternal and neonatal target attainment at delivery. METHODS: Data were obtained from 24 healthy, GBS-colonized pregnant women (20-41 years), undergoing vaginal delivery (gestational age ≥37 weeks). During labour, all women received a 2 g cefazolin IV infusion. Eight hours later, eight women received another 1 g in the event of delayed (>8 h) delivery. Next to maternal plasma concentrations (up to 10 per dosing interval, until delivery), venous and arterial umbilical cord concentrations were determined at delivery. Target attainment in maternal/neonatal plasma was set at 1 mg/L for 60% of the dosing interval (unbound cefazolin, worst-case clinical breakpoint). A population pharmacokinetic (popPK) model was built (NONMEM 7.4). ClinicalTrials.gov Identifier: NCT01295606. RESULTS: At delivery, maternal blood and arterial umbilical cord unbound cefazolin concentrations were >1 mg/L in 23/24 (95.8%) and 11/12 (91.7%), respectively. The popPK of cefazolin in pregnant women was described by a two-compartment model with first-order elimination. Two additional compartments described the venous and arterial umbilical cord concentration data. Cefazolin target attainment was adequate in the studied cohort, where delivery occurred no later than 6.5 h after either the first or the second dose. PopPK simulations showed adequate maternal and umbilical cord exposure for 12 h following the first dose. CONCLUSIONS: PopPK simulations showed that standard pre-delivery maternal cefazolin dosing provided adequate target attainment up to the time of delivery.


Assuntos
Antibacterianos , Cefazolina , Adulto , Feminino , Humanos , Recém-Nascido , Plasma , Gravidez , Streptococcus agalactiae , Cordão Umbilical , Adulto Jovem
16.
J Vis Exp ; (165)2020 11 07.
Artigo em Inglês | MEDLINE | ID: mdl-33226018

RESUMO

Primary Ciliary Dyskinesia (PCD) is a genetic motile ciliopathy, leading to significant otosinopulmonary disease. PCD diagnosis is often missed or delayed due to challenges with different diagnostic modalities. Ciliary videomicroscopy, using Digital High-Speed Videomicroscopy (DHSV), one of the diagnostic tools for PCD, is considered the optimal method to perform ciliary functional analysis (CFA), comprising of ciliary beat frequency (CBF) and beat pattern (CBP) analysis. However, DHSV lacks standardized, published operating procedure for processing and analyzing samples. It also uses living respiratory epithelium, a significant infection control issue during the COVID-19 pandemic. To continue providing a diagnostic service during this health crisis, the ciliary videomicroscopy protocol has been adapted to include adequate infection control measures. Here, we describe a revised protocol for sampling and laboratory processing of ciliated respiratory samples, highlighting adaptations made to comply with COVID-19 infection control measures. Representative results of CFA from nasal brushing samples obtained from 16 healthy subjects, processed and analyzed according to this protocol, are described. We also illustrate the importance of obtaining and processing optimal quality epithelial ciliated strips, as samples not meeting quality selection criteria do now allow for CFA, potentially decreasing the diagnostic reliability and the efficiency of this technique.


Assuntos
Betacoronavirus , Transtornos da Motilidade Ciliar/diagnóstico por imagem , Infecções por Coronavirus/prevenção & controle , Controle de Infecções , Mucosa Nasal/diagnóstico por imagem , Pandemias/prevenção & controle , Pneumonia Viral/prevenção & controle , Adulto , COVID-19 , Cílios/fisiologia , Transtornos da Motilidade Ciliar/fisiopatologia , Infecções por Coronavirus/epidemiologia , Feminino , Voluntários Saudáveis , Humanos , Masculino , Microscopia de Vídeo , Pessoa de Meia-Idade , Pneumonia Viral/epidemiologia , Reprodutibilidade dos Testes , SARS-CoV-2 , Manejo de Espécimes , Adulto Jovem
17.
J Clin Endocrinol Metab ; 105(7)2020 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-32407531

RESUMO

CONTEXT: Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation and neural crest tumor (ROHHHAD[NET]) is a rare and potentially fatal disease. No specific diagnostic biomarker is currently available, making prompt diagnosis challenging. Since its first definition in 2007, a complete clinical analysis leading to specific diagnosis and follow-up recommendations is still missing. OBJECTIVE: The purpose of this work is to describe the clinical timeline of symptoms of ROHHAD(NET) and propose recommendations for diagnosis and follow-up. DESIGN: We conducted a systematic review of all ROHHAD(NET) case studies and report a new ROHHAD patient with early diagnosis and multidisciplinary care. METHODS: All the articles that meet the definition of ROHHAD(NET) and provide chronological clinical data were reviewed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis individual patient data guidelines. The data were grouped into 7 categories: hypothalamic dysfunction, autonomic dysregulation, hypoventilation, NET, psychiatric symptoms, other clinical manifestations, and outcome. RESULTS: Forty-three individual patient data descriptions were analyzed. The timeline of the disease shows rapid-onset obesity followed shortly by hypothalamic dysfunction. Dysautonomia was reported at a median age of 4.95 years and hypoventilation at 5.33 years, or 2.2 years after the initial obesity. A NET was reported in 56% of the patients, and 70% of these tumors were diagnosed within 2 years after initial weight gain. CONCLUSION: Because early diagnosis improves the clinical management and the prognosis in ROHHAD(NET), this diagnosis should be considered for any child with rapid and early obesity. We propose guidance for systematic follow-up and advise multidisciplinary management with the aim of improving prognosis and life expectancy.


Assuntos
Neoplasias das Glândulas Suprarrenais/diagnóstico , Doenças do Sistema Nervoso Autônomo/diagnóstico , Ganglioneuroblastoma/diagnóstico , Ganglioneuroma/diagnóstico , Doenças Hipotalâmicas/diagnóstico , Hipoventilação/diagnóstico , Obesidade/diagnóstico , Neoplasias das Glândulas Suprarrenais/complicações , Doenças do Sistema Nervoso Autônomo/complicações , Ganglioneuroblastoma/complicações , Ganglioneuroma/complicações , Humanos , Doenças Hipotalâmicas/complicações , Hipoventilação/complicações , Obesidade/complicações , Prognóstico , Síndrome
18.
BMC Pediatr ; 20(1): 151, 2020 04 06.
Artigo em Inglês | MEDLINE | ID: mdl-32248803

RESUMO

BACKGROUND: Unusual clinical presentation of acute appendicitis in preschool children leads to misdiagnosis and complications. We aimed to analyze the influence of age on clinical presentation, laboratory findings and complications in preschool children with acute appendicitis. METHODS: From January 2012 until December 2017, 29 children younger than 6 years of age (median 50 months) with acute appendicitis were enrolled in this retrospective study. Patients were grouped according to their age: group 1: < 48 months (n = 13); group 2: > 48 months (n = 16), their clinical data, laboratory results and complications were compared. RESULTS: In group 1, duration of nausea and vomiting was longer, alteration of general state was more frequent and pain in the right fossa iliaca less frequent than in group 2 (p = 0.026, p = 0.000 and p = 0.029, respectively). Heart rate was higher in group 1 than in group 2 (p = 0.012). Leucocyte and polynuclear neutrophil counts were lower in group 1 than in group 2 (p = 0.028 and = 0.004, respectively) but C-reactive protein levels were not different between groups. In the whole cohort however, C-reactive protein at admission value correlated negatively with age (p = 0.025). Abdominal ultrasound allowed diagnosis in 19/29 patients (65.5%), without any difference between groups. Appendicular perforation was more frequent in group 1 than in group 2 (p = 0.003). Perforation was also related to longer hospital stay (p = 0.018). Peritonitis occurred in 21/29 (72%), post-operative ileus in 5/29 (17%) and sepsis in 4/29 (14%) patients without any difference between groups. In the whole cohort, hospital stay correlated negatively with age (p = 0.000). There was no mortality. CONCLUSIONS: Among preschool children, those younger than 48 months present with longer duration of pre-admission symptoms indicating longer infection course than in older children. Altered general state and higher degree of tachycardia in the younger reflect higher systemic repercussions of the illness. Less specific abdominal pain and dissociation of the inflammatory markers with lower leucocyte- and neutrophil counts and higher C-reactive protein levels in the younger may contribute to further diagnosis delay and higher rate of perforation in these patients.


Assuntos
Fatores Etários , Apendicite , Diagnóstico Tardio , Dor Abdominal/etiologia , Doença Aguda , Apendicectomia , Apendicite/diagnóstico , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estudos Retrospectivos
19.
Front Pediatr ; 8: 40, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32117843

RESUMO

Introduction: Myocardial remodeling due to large atrial septum defect (ASD) is macroscopically characterized by dilation of the right-sided cardiac cavities secondary to volume overload, the cellular mechanisms of which are not yet understood. We postulated that inflammation, fibrosis, and cell death are actors of right atrial remodeling secondary to ASD. Patients and Methods: In 12 children with large ASD (median age: 63 months), expression of genes coding for proteins involved in the response to cell stress and -protection, inflammation, growth and angiogenesis, fibrosis, and apoptosis was assessed by RT-PCR in right atrial myocardial biopsies taken during cardiac surgery. The presence of cytokines in myocardial cells was confirmed by immunohistochemistry and effective apoptosis by TUNEL assay. Results: In all patients investigated, a cellular response to early mechanical stress with the initiation of early protective mechanisms, of inflammation (and its control), -growth, and -angiogenesis, of fibrosis and apoptosis was present. The apoptotic index assessed by TUNEL assay averaged 0.3%. Conclusions: In children with large ASD, macroscopic right atrial remodeling relates to cellular mechanisms involving the expression of numerous genes that either still act to protect cells and tissues but that also harm as they initiate and/or sustain inflammation, fibrosis, and cell death by apoptosis. This may contribute to long term morbidity in patients with ASD.

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