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1.
An Pediatr (Engl Ed) ; 100(2): 115-122, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38307752

RESUMO

INTRODUCTION: Hydrops fetalis (HF) is a rare condition with a high mortality. This study analysed the obstetric and perinatal outcomes of antenatally diagnosed HF according to its aetiology and the possibility of intrauterine treatment (IUT). PATIENTS AND METHODS: We carried out a retrospective review of the health records of 164 pregnant women with a prenatal diagnosis of HF in a tertiary care centre between 2011-2021. We analysed prenatal interventions, clinical findings, aetiologies and obstetric and live-born infant outcomes. RESULTS: An invasive prenatal study had been performed in 79.3% cases. The most common aetiologies were genetic disorders (31%), TORCH and parvovirus B19 infections (9.7%) and structural heart diseases (9.1%). Intrauterine treatment was performed in 25.6%, and 74.4% of pregnancies were terminated. Pregnancies with a prenatal diagnosis of genetic or chromosomal disorders had higher rates of elective termination compared to other aetiologies (P < .01). Among all pregnancies, only 25.6% resulted in live births (LBs), most of them preterm. Perinatal and 1-year survival rates were higher in the group that received IUT (P < .001). Among the LBs, structural heart diseases had the worst survival rates, while the aetiology with the best outcomes was tachyarrhythmia. Survival at 1 year of life among those born alive was 70%, but 58.6% of these infants had significant morbidity at discharge. CONCLUSIONS: Despite advances in the management of FH, the poor obstetric prognosis, perinatal mortality and morbidity of survivors is still significant. These data are important for the purpose of counselling families when HF is diagnosed antenatally.


Assuntos
Cardiopatias , Hidropisia Fetal , Recém-Nascido , Humanos , Gravidez , Feminino , Hidropisia Fetal/diagnóstico , Hidropisia Fetal/etiologia , Hidropisia Fetal/terapia , Centros de Atenção Terciária , Diagnóstico Pré-Natal , Estudos Retrospectivos , Cardiopatias/complicações
2.
An Pediatr (Engl Ed) ; 98(2): 92-98, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36710085

RESUMO

INTRODUCTION: Early-onset neonatal sepsis (EONS) can cause significant morbidity and mortality, especially if it is not detected early. Given the decrease in its incidence in the past few decades, it is important to find a balance between reducing the use of diagnostic tests and continuing to detect affected patients. We compared 3 detection strategies in patients with risk factors (RFs) for infection: laboratory screening (S1), the Neonatal Sepsis Risk Calculator (S2) and clinical observation (S3). PATIENTS AND METHODS: Retrospective observational study in neonates born at 34 weeks of gestation or later and with RFs or symptoms compatible with EONS. We analysed outcomes in our unit with the use of laboratory screening (S1) and compared them with the other two strategies (S2 and S3) to contemplate whether to modify our protocol. RESULTS: The study included 754 patients, and the most frequent RFs were prolonged rupture of membranes (35.5%) and maternal colonization by Streptococcus agalactiae (38.5%). Strategies S2 and S3 would decrease the performance of laboratory tests (S1, 56.8% of patients; S2, 9.9%; S3, 22.4%; P < 0.01), hospital admissions (S1, 11%; S2, 6.9%; S3, 7.9%; P < 0.01) and the use of antibiotherapy (S1, 8.6%; S2, 6.7%; S3, 6.4%; P < 0.01). Sepsis was diagnosed in 13 patients, and it would have been detected with S2 and S3 except in 1 patient who had asymptomatic bacteriemia by Enterococcus faecalis. No patient with mild and self-limited symptoms in whom antibiotherapy was not started received a diagnosis of sepsis later on. CONCLUSION: Close clinical observation seems to be a safe option and could reduce the use of diagnostic tests, hospital admission and unnecessary antibiotherapy. The watchful waiting approach in patients with mild and self-limiting symptoms in the first hours post birth does not appear to be associated with failure to identify sepsis.


Assuntos
Sepse Neonatal , Sepse , Recém-Nascido , Humanos , Sepse Neonatal/diagnóstico , Sepse Neonatal/tratamento farmacológico , Sepse Neonatal/epidemiologia , Sepse/diagnóstico , Sepse/epidemiologia , Fatores de Risco , Estudos Retrospectivos , Antibacterianos/uso terapêutico
3.
Nutrients ; 14(23)2022 Nov 22.
Artigo em Inglês | MEDLINE | ID: mdl-36500985

RESUMO

An observational comparative study was designed to assess the fatty acids profile in erythrocyte membrane phospholipids of 30 preterm neonates (<32 weeks gestation) at birth and after 1 month of life versus a convenience sample of 10 infants born at term. The panel of fatty acids included the families and components of saturated fatty acids (SFAs), monounsaturated fatty acids (MUFAs), and n-6 and n-3 polyunsaturated fatty acids (PUFAs) as well as enzyme activity indexes and fatty acids ratios. At birth, the comparison of fatty acid families between preterm and term neonates showed a significantly higher content of SFAs and n-6 PUFAs, and a significantly lower content of MUFAs and n-3 PUFAs in the preterm group. After 30 days of life, significantly higher levels of n-6 PUFAs and significantly lower levels of n-3 PUFAs among preterm neonates persisted. At 30 days of birth, n-6 PUFA/n-3 PUFA and arachidonic acid (ARA) ARA/DHA remained significantly elevated, and DHA sufficiency index significantly decreased in the preterm group. The pattern of n-3 PUFA deficiency at birth and sustained for the first month of life would support the need of milk banking fortified with DHA and the use of DHA supplementation in breastfeeding mothers.


Assuntos
Ácidos Docosa-Hexaenoicos , Ácidos Graxos Ômega-3 , Lactente , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Membrana Eritrocítica , Leite Humano , Ácidos Graxos Ômega-6 , Ácidos Graxos
5.
J Clin Pharm Ther ; 47(9): 1475-1477, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35633061

RESUMO

WHAT IS KNOWN AND OBJECTIVE: Carbaglu® or N-carbamylglutamate (NCG) is not recommended for administration in a vehicle other than water. We aim to report the use of breast milk (BM) as an alternative vehicle in a neonate rejecting NCG diluted in water. CASE SUMMARY: A neonate diagnosed with methylmalonic acidemia presented symptomatology of acidemia and hyperammonemia. After the patient refused oral NCG administration, a dissolution test was conducted in BM showing correct dissolution. The NCG-BM solution was tolerated and plasma ammonium concentrations remained within range in subsequent analytical controls. WHAT IS NEW AND CONCLUSION: BM as a vehicle for NCG is a safe and effective option for patients who refuse suspension in water and could lead to better treatment compliance in paediatric patients.


Assuntos
Compostos de Amônio , Leite Humano , Erros Inatos do Metabolismo dos Aminoácidos , Criança , Feminino , Glutamatos , Humanos , Recém-Nascido , Água
6.
An Pediatr (Engl Ed) ; 96(2): 130-137, 2022 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-35131224

RESUMO

INTRODUCTION: Preterm newborns (PN) have a higher risk of thyroid dysfunction than term newborns (TN). This condition may go unnoticed in neonatal screening due to a late elevation of thyrotropin (TSH) in these patients. OBJECTIVE: Evaluate thyroid function in the second week of life in PN of < 32 weeks gestation (WG), and to identify factors associated to its alteration. PATIENTS AND METHODS: A retrospective study was performed in neonates of < 32 weeks gestation (WG), in whom thyroid function was determined. An analysis was performed on thyroxine (T4L) and TSH levels, as well as their association with perinatal and neonatal outcomes. RESULTS: The study included a total of 358 patients with mean gestational age (GA) of 29.3 weeks, and mean birth weight (BW) 1127 grams. A linear correlation was found between T4L and BW (correlation coefficient (R) 0.356; p < 0.001) and GA (R = 0.442; p < 0.001). TSH values were associated with small for gestational age (SGA 5.3 mU/L [1.5-37]; non-SGA 2.89 mU/L [0.2-19.5]; p < 0.001), inotropic support (Yes 3.98 mU/L [0.6-22.9]; No 3.16 mU/L [0.2-37]; p = 0.019) and BW (R = -0.249; p < 0.001). Nine (2.5%) patients were treated with levothyroxine, of whom six were SGA. CONCLUSIONS: Thyroid function analysis in the second week of life helps to identify asymptomatic newborns with risk of thyroid dysfunction. SGA newborns are at higher risk of thyroid function alterations.


Assuntos
Recém-Nascido Prematuro , Glândula Tireoide , Feminino , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Gravidez , Estudos Retrospectivos , Tireotropina
8.
An Pediatr (Engl Ed) ; 2021 Mar 23.
Artigo em Espanhol | MEDLINE | ID: mdl-33771459

RESUMO

INTRODUCTION: The use of high-flow cannula therapy (HFNC) in neonatal units has increased in recent years, but there are no consensus guidelines on its indications and application strategies. Our aim was to know the rate of use of HFNC, their indications and the management variability among Spanish neonatal units. MATERIAL AND METHODS: Twenty-five-question survey for medical and nursing staff. Level II and III units were contacted by phone and sent in Google forms between September 2016 and December 2018. RESULTS: Ninety-seven responses (63.9% medical, 36.1% nursing), from 69 neonatal units representing 15 autonomous communities (87% level of care III; 13% level II). All units except one have HFNC with a humidified and heated system. Their most frequent indications are: non-invasive ventilation weaning (79.4%), bronchiolitis (69.1%), respiratory distress of the term newborn (58.8%), after extubation (50.5%). Minimum flow (1-5 L/min) and maximum flow (5-15 L/min) are variable between units. 22.7% have experienced some adverse effect from its use (9 air leak, 12 nasal trauma). Less than half have an employment protocol, but all the answers agree on the usefulness of national recommendations. CONCLUSIONS: HFNC therapy is widely used in Spanish units, but there is great variability in its indications and strategies of use. National recommendations would be applicable in most units and would allow unifying its use.

10.
An Pediatr (Engl Ed) ; 2020 Dec 22.
Artigo em Espanhol | MEDLINE | ID: mdl-33358353

RESUMO

INTRODUCTION: Preterm newborns (PN) have a higher risk of thyroid dysfunction than term newborns (TN). This condition may go unnoticed in neonatal screening due to a late elevation of thyrotropin (TSH) in these patients. OBJECTIVE: Evaluate thyroid function in the second week of life in PN of < 32 weeks gestation (WG), and to identify factors associated to its alteration. PATIENTS AND METHODS: A retrospective study was performed in neonates of < 32 weeks gestation (WG), in whom thyroid function was determined. An analysis was performed on thyroxine (T4L) and TSH levels, as well as their association with perinatal and neonatal outcomes. RESULTS: The study included a total of 358 patients with mean gestational age (GA) of 29.3 weeks, and mean birth weight (BW) 1127 grams. A linear correlation was found between T4L and BW (correlation coefficient (R) 0.356; p < 0.001) and GA (R = 0.442; p < 0.001). TSH values were associated with small for gestational age (SGA 5.3 mU/L [1.5-37]; non-SGA 2.89 mU/L [0.2-19.5]; p < 0.001), inotropic support (Yes 3.98 mU/L [0.6-22.9]; No 3.16 mU/L [0.2-37]; p = 0.019) and BW (R = -0.249; p < 0.001). Nine (2.5%) patients were treated with levothyroxine, of whom six were SGA. CONCLUSIONS: Thyroid function analysis in the second week of life helps to identify asymptomatic newborns with risk of thyroid dysfunction. SGA newborns are at higher risk of thyroid function alterations.

11.
Semin Fetal Neonatal Med ; 25(1): 101068, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31862224

RESUMO

Bone remodeling is a complex process which integrates different stimuli factors such as mechanical, nutritional and hormonal factors as well as cytokines and growth factors. Bone health depends on an adequate balance between all these factors. The typical bone pathology of the newborn is the metabolic bone disease of prematurity, favored by a lack of mineral accretion in the third trimester of gestation. The intrinsic defects of the bone tissue (primary osteoporosis) are usually of genetic or idiopathic origin and can affect both the term and the preterm newborn. Other risk factors for osteopenia (secondary osteoporosis) include maternal or gestational factors, nutritional deficits (calcium, phosphorus, vitamin D), endocrinological alterations, use of certain medications antagonistic to bone metabolism, mechanical factors and chronic diseases (renal or hepatic insufficiency, intestinal malabsorption, collagen or metabolic diseases). This review examines the risk factors of developing bone metabolic disorders in neonates.


Assuntos
Doenças Ósseas Metabólicas/etiologia , Osso e Ossos/metabolismo , Doenças Ósseas Metabólicas/metabolismo , Cálcio/metabolismo , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Fósforo/metabolismo , Fatores de Risco , Vitamina D/metabolismo
12.
Arch. argent. pediatr ; 117(4): 363-367, ago. 2019. ilus, tab
Artigo em Espanhol | LILACS, BINACIS | ID: biblio-1054937

RESUMO

La glomerulonefritis rápidamente progresiva de etiología posinfecciosa es rara en la infancia, con una prevalencia estimada del 1-3 %. La mayoría debuta como insuficiencia renal aguda y su tratamiento se basa en el uso de corticoides y ciclofosfamida. Si se realiza diagnóstico precoz, el 70 % presenta una recuperación temprana de la función renal. En los últimos años, se han descrito "glomerulopatías por C3", que presentan características que se superponen. Son útiles, en el diagnóstico diferencial, la inmunofluorescencia y la determinación del factor nefrítico. Se presenta un varón de 4 años que acude por fiebre y cuadro respiratorio. Se observa microhematuria, proteinuria, descenso de filtrado glomerular y descenso de C3, y se sospecha glomerulonefritis aguda. Se realiza una biopsia, cuya microscopía óptica muestra la presencia de semilunas epiteliales, y la electrónica, depósitos subepiteliales en forma de joroba, por lo que se diagnostica glomerulonefritis rápidamente progresiva de etiología posinfecciosa.


Postinfectious glomerulonephritis is rarely presented as rapidly progressive glomerulonephritis in children; the prevalence is approximately 1-3 %. Most children have acute onset of renal failure; initial treatment involves corticosteroids and immunosuppressive therapy. Early diagnosis improves prognosis. In recent years, an entity known as "C3 glomerulopathies" has been described, presenting characteristics that overlap. In the differential diagnosis, the immunofluorescence and the determination of the nephritic factor are useful. We report a 4-year-old boy with fever, respiratory symptoms and hyporexia. Microhematuria, proteinuria, decline in glomerular filtration and depressed C3 were found. Acute glomerulonephritis was suspected. Renal biopsy showed crescent formation, immunofluorescence staining for C3 and subepithelial humps. Therefore, postinfectious glomerulonephritis with crescent formations was diagnosed.


Assuntos
Humanos , Masculino , Pré-Escolar , Glomerulonefrite/diagnóstico , Pediatria , Corticosteroides/uso terapêutico , Glomerulonefrite/tratamento farmacológico , Imunossupressores/uso terapêutico
13.
Arch Argent Pediatr ; 117(4): e363-e367, 2019 08 01.
Artigo em Espanhol | MEDLINE | ID: mdl-31339276

RESUMO

Postinfectious glomerulonephritis is rarely presented as rapidly progressive glomerulonephritis in children; the prevalence is approximately 1-3 %. Most children have acute onset of renal failure; initial treatment involves corticosteroids and immunosuppressive therapy. Early diagnosis improves prognosis. In recent years, an entity known as "C3 glomerulopathies" has been described, presenting characteristics that overlap. In the differential diagnosis, the immunofluorescence and the determination of the nephritic factor are useful. We report a 4-year-old boy with fever, respiratory symptoms and hyporexia. Microhematuria, proteinuria, decline in glomerular filtration and depressed C3 were found. Acute glomerulonephritis was suspected. Renal biopsy showed crescent formation, immunofluorescence staining for C3 and subepithelial humps. Therefore, postinfectious glomerulonephritis with crescent formations was diagnosed.


La glomerulonefritis rápidamente progresiva de etiología posinfecciosa es rara en la infancia, con una prevalencia estimada del 1-3 %. La mayoría debuta como insuficiencia renal aguda y su tratamiento se basa en el uso de corticoides y ciclofosfamida. Si se realiza diagnóstico precoz, el 70 % presenta una recuperación temprana de la función renal. En los últimos años, se han descrito "glomerulopatías por C3", que presentan características que se superponen. Son útiles, en el diagnóstico diferencial, la inmunofluorescencia y la determinación del factor nefrítico. Se presenta un varón de 4 años que acude por fiebre y cuadro respiratorio. Se observa microhematuria, proteinuria, descenso de filtrado glomerular y descenso de C3, y se sospecha glomerulonefritis aguda. Se realiza una biopsia, cuya microscopía óptica muestra la presencia de semilunas epiteliales, y la electrónica, depósitos subepiteliales en forma de joroba, por lo que se diagnostica glomerulonefritis rápidamente progresiva de etiología posinfecciosa.


Assuntos
Glomerulonefrite/microbiologia , Doença Aguda , Pré-Escolar , Progressão da Doença , Glomerulonefrite/diagnóstico , Humanos , Masculino , Fatores de Tempo
14.
Nutr Hosp ; 36(2): 261-266, 2019 Apr 10.
Artigo em Espanhol | MEDLINE | ID: mdl-30866636

RESUMO

INTRODUCTION: Background and objective: hemodynamically significant patent ductus arteriosus (HS-PDA) is associated with an increased risk of necrotizing enterocolitis (NEC) and worse enteral tolerance in preterm newborns (PN). An association has been demonstrated between brain natriuretic propeptide (proBNP) and HS-PDA. Our objective was to analyze the relationship between proBNP levels and enteral tolerance, NEC risk and weight gain in PN. Material and methods: a retrospective study was performed in neonates born before 32 weeks' gestation or with birth weight below 1500 grams, in whom proBNP determination and echocardiography were performed at 48 to 72 h of life. Results: 117 patients were included. 65.8% had a HS-PDA and 9.4% had an outcome of NEC. HS-PDA was associated with longer duration of parenteral nutrition (p < 0.001), a confirmed NEC (p = 0.006) and worse weight gain during admission (p < 0.001). ProBNP levels were associated to NEC (no NEC 12189.5 pg / mL, range 654-247986; NEC 41445 pg/mL, range 15275-166172, p < 0.001). No association was found with the rest of gastrointestinal outcomes. Multivariate logistic regression analysis showed a significant association of NEC with gestational age and proBNP above 22,400 pg/mL (OR 13,386, 95% CI 1,541-116,262, p = 0.019). Conclusions: proBNP could be an early marker of severe digestive pathology in PN. Increased proBNP levels could be associated with a significant increased risk of NEC in very immature newborns.


INTRODUCCIÓN: Antecedentes y objetivo: el ductus arterioso persistente hemodinámicamente significativo (DAP-HS) se asocia a mayor riesgo de enterocolitis necrotizante (ECN) y peor tolerancia enteral en los recién nacidos prematuros (RNPT). Se ha demostrado asociación entre el propéptido natriurético cerebral (proBNP) y el DAP-HS. Nuestro objetivo fue analizar la relación entre los niveles de proBNP y la tolerancia enteral, el riesgo de ECN y la ganancia ponderal en el RNPT. Material y métodos: estudio retrospectivo observacional, que incluyó a RNPT menores de 32 semanas de gestación y/o 1.500 g, con estudio ecocardiográfico y determinación de niveles de proBNP a las 48-72 horas de vida. Resultados: de 117 pacientes incluidos, el 65,8% tuvo un DAPHS y el 9,4% presentó ECN confirmada. El DAP-HS se asoció a mayor duración de la nutrición parenteral (p < 0,001), a ECN confirmada (p = 0,006) y a peor ganancia ponderal durante el ingreso (p < 0,001). Los valores de proBNP se relacionaron con la ECN (no ECN 12.189,5 pg/ml, rango 654-247.986; ECN 41.445 pg/ml, rango 15.275-166.172; p < 0,001), sin encontrar asociación con el resto de variables de evolución digestiva. En el análisis multivariante de regresión logística, las variables relacionadas de forma independiente con el desarrollo de ECN fueron la edad gestacional y el proBNP superior a 22.400 pg/ml (OR 13,386; IC 95% 1,541-116,262; p = 0,019). Conclusiones: el proBNP podría ser un marcador precoz de patología digestiva grave en el RNPT. Los niveles elevados podrían relacionarse con mayor riesgo de ECN en los neonatos más inmaduros.


Assuntos
Sistema Digestório/crescimento & desenvolvimento , Recém-Nascido Prematuro , Peptídeo Natriurético Encefálico/sangue , Fragmentos de Peptídeos/sangue , Biomarcadores/sangue , Permeabilidade do Canal Arterial/complicações , Feminino , Humanos , Recém-Nascido , Masculino , Nutrição Parenteral , Estudos Retrospectivos , Risco , Aumento de Peso
15.
Rev Chil Pediatr ; 88(4): 487-494, 2017.
Artigo em Espanhol | MEDLINE | ID: mdl-28898316

RESUMO

BACKGROUND: Metabolic bone disease (MBD) of prematurity is a complication of multifactorial aetiology, which has been increasing, due to progressive decrease in mortality of preterm newborns. The aim of the study was to analyze risk factors of severe MBD and its analytical markers. PATIENTS AND METHOD: Retrospective study involving preterm infants less than 32 weeks gestational age and/or weight less tan 1,500 g born between january 2012 and december 2014. Comparison was made according to the presence of severe MBD. RESULTS: 139 patients were recruited. Mean value of 25(OH)D3 was 70.68 ± 25.20 nmol/L, being higher in patients born in spring-summer than in autumn-winter (80.94 ± 25.33 vs 61.13 ± 21.07; p = 0.000). Levels of 25(OH)D3 were similar in patients with severe MBD compared with the rest of patients (65.61 ± 26.49 vs 72.07 ± 24.89, P = 0.283). Higher levels of alkaline phosphatase (AP, IU/L ) (1314.19 ± 506.67 vs 476.56 ± 188.85; p = 0.000) were found in these patients. Cutoff point of AP 796.5 IU/L (S 95.2%, specificity 92.4%) was calculated by ROC curve. The risk factors most associated to severe EMO were restricted fetal growth, birth weight, duration of ventilation therapy and parenteral nutrition. CONCLUSIONS: AP levels were the best marker of severe MBD development. EMO risk increases with the number of risk factors and lower levels of 25(OH)D3. Levels of 25(OH)D3 higher than 70nmol/L appear to protect from the development of severe MBD, even in patients with multiple risk factors.


Assuntos
Doenças Ósseas Metabólicas/diagnóstico , Doenças Ósseas Metabólicas/etiologia , Doenças do Prematuro/diagnóstico , Doenças do Prematuro/etiologia , Biomarcadores/metabolismo , Doenças Ósseas Metabólicas/metabolismo , Feminino , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Doenças do Prematuro/metabolismo , Masculino , Estudos Retrospectivos , Fatores de Risco
16.
Arch. argent. pediatr ; 115(2): e108-e111, abr. 2017.
Artigo em Espanhol | LILACS, BINACIS | ID: biblio-838349

RESUMO

La enfermedad granulomatosa crónica es una inmunodeficiencia primaria, con una incidencia de 1/200 000-250 000recién nacidos vivos. Afecta, principalmente, a varones; la mayoría de las mutaciones son ligadas al cromosoma X y las formas autosómicas recesivas ocurren, con más frecuencia, en comunidades con mayor número de matrimonios consanguíneos. Se caracteriza por sensibilidad a infecciones recurrentes y graves, bacterianas y fúngicas, con formación de granulomas, debido a la incapacidad de los fagocitos para generar compuestos reactivos de oxígeno, necesarios para la muerte intracelular de microorganismos fagocitados. Se presentan tres casos de enfermedad granulomatosa crónica en los que se aisló Serratia marcescens y, tras una anamnesis minuciosa y obtener resultados de pruebas de funcionalidad de neutrófilos, se llegó a un diagnóstico molecular de la enfermedad. La enfermedad granulomatosa crónica puede manifestarse de formas muy variadas, por lo que el alto índice de sospecha y una buena anamnesis son fundamentales para alcanzar un diagnóstico.


Chronic granulomatous disease (CGD) is a primary immunodeficiency with an incidence of 1/200,000-250,000 live births. CGD affects mainly male patients, most of the mutations being X-linked, and autosomal recessive forms occur more frequently in communities with greater numbers of consanguineous marriages. CGD is characterized by sensitivity to recurrent and severe bacterial and fungal infections, with formation of granulomas due to the inability of phagocytes to generate reactive oxygen compounds, necessary for the intracellular death of phagocytic microorganisms. We report three cases of CGD in which Serratia marcescens was isolated, and after detailed anamnesis and performance of neutrophil function tests, a molecular diagnosis of the disease was reached. CGD can be manifested in a wide variety of ways, so that high suspicion and a meticulous anamnesis are essential to reach a diagnosis.


Assuntos
Humanos , Masculino , Pré-Escolar , Criança , Adolescente , Infecções por Serratia/imunologia , Doença Granulomatosa Crônica/complicações , Doença Granulomatosa Crônica/diagnóstico
17.
Arch Argent Pediatr ; 115(2): e108-e111, 2017 04 01.
Artigo em Espanhol | MEDLINE | ID: mdl-28318195

RESUMO

Chronic granulomatous disease (CGD) is a primary immunodeficiency with an incidence of 1/200,000-250,000 live births. CGD affects mainly male patients, most of the mutations being X-linked, and autosomal recessive forms occur more frequently in communities with greater numbers of consanguineous marriages. CGD is characterized by sensitivity to recurrent and severe bacterial and fungal infections, with formation of granulomas due to the inability of phagocytes to generate reactive oxygen compounds, necessary for the intracellular death of phagocytic microorganisms. We report three cases of CGD in which Serratia marcescens was isolated, and after detailed anamnesis and performance of neutrophil function tests, a molecular diagnosis of the disease was reached. CGD can be manifested in a wide variety of ways, so that high suspicion and a meticulous anamnesis are essential to reach a diagnosis.


La enfermedad granulomatosa crónica es una inmunodeficiencia primaria, con una incidencia de 1/200 000-250 000 recién nacidos vivos. Afecta, principalmente, a varones; la mayoría de las mutaciones son ligadas al cromosoma X y las formas autosómicas recesivas ocurren, con más frecuencia, en comunidades con mayor número de matrimonios consanguíneos. Se caracteriza por sensibilidad a infecciones recurrentes y graves, bacterianas y fúngicas, con formación de granulomas, debido a la incapacidad de los fagocitos para generar compuestos reactivos de oxígeno, necesarios para la muerte intracelular de microorganismos fagocitados. Se presentan tres casos de enfermedad granulomatosa crónica en los que se aisló Serratia marcescens y, tras una anamnesis minuciosa y obtener resultados de pruebas de funcionalidad de neutrófilos, se llegó a un diagnóstico molecular de la enfermedad. La enfermedad granulomatosa crónica puede manifestarse de formas muy variadas, por lo que el alto índice de sospecha y una buena anamnesis son fundamentales para alcanzar un diagnóstico.


Assuntos
Doença Granulomatosa Crônica/complicações , Infecções por Serratia/imunologia , Adolescente , Criança , Pré-Escolar , Doença Granulomatosa Crônica/diagnóstico , Humanos , Masculino
19.
An Pediatr (Barc) ; 86(6): 321-328, 2017 Jun.
Artigo em Espanhol | MEDLINE | ID: mdl-26936584

RESUMO

INTRODUCTION: Patent ductus arteriosus (PDA) is a prevalent condition in preterm infants, and may be related to increased morbidity and mortality in the most immature newborns. Recent studies have examined the usefulness of brain natriuretic propeptide (proBNP) in the diagnosis of this pathology. The aim of the study was to evaluate the diagnostic efficacy of proBNP as a marker of hemodynamic overload in PDA. PAIENTS AND METHODS: A retrospective study was conducted on preterm infants less than 32 weeks of gestation and/or weight less than 1500 grams. Echocardiogram and determination of proBNP levels were performed on all patients. Comparison was made by subgroups according to the presence of PDA and their haemodynamic characteristics. RESULTS: Of the 60 patients enrolled, 71.7% had PDA, of which 86% had haemodynamically significant patent ductus arteriosus (HS-PDA). All of them, but one, received medical treatment with ibuprofen or acetaminophen. Surgical closure was required in 29.7% of HS-PDA. Higher values of proBNP were found in patients with HS-PDA (33338±34494.47pg/mL; p=.000) compared with patients with closed or non-haemodynamically significant ductus arteriosus. Higher values were also found in patients who required surgical closure of PDA (30596.8±14910.9; p=.004). A greater decrease inproBNP levels was found in the group of patients which duct closure after pharmacological treatment (68±24.69% vs -12.22±99.4%; p=.030). ProBNP cutoff-level for HS-PDA was calculated by ROC curve and it was 9321.5pg/mL (Specificity: 100%, Sensitivity: 94.6%). CONCLUSIONS: ProBNP levels are related to the presence or absence of haemodynamically significant patent ductus arteriosus; and its variations with treatment response. High values are also related to the need for surgical closure of PDA.


Assuntos
Permeabilidade do Canal Arterial/diagnóstico , Peptídeo Natriurético Encefálico/sangue , Precursores de Proteínas/sangue , Permeabilidade do Canal Arterial/sangue , Permeabilidade do Canal Arterial/fisiopatologia , Permeabilidade do Canal Arterial/terapia , Feminino , Hemodinâmica , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Masculino , Estudos Retrospectivos , Sensibilidade e Especificidade
20.
Rev. chil. pediatr ; 88(4): 487-494, 2017. ilus, tab
Artigo em Espanhol | LILACS | ID: biblio-900007

RESUMO

Introducción: La enfermedad metabólica ósea (EMO) del recién nacido prematuro (RNPT) es una complicación de origen multifactorial, que ha ido en aumento, consecuencia de la disminución progresiva de la mortalidad. El objetivo del estudio fue analizar los factores de riesgo (FR) pre y postnatales relacionados con la EMO severa y sus marcadores analíticos. Pacientes y Métodos: Estudio retrospectivo observacional, descriptivo y analítico, que incluyó RNPT nacidos con menos de 32 semanas y/o peso menor de 1.500 g entre enero de 2012 y diciembre de 2014. Se analizó la muestra en función del desarrollo de EMO severa. Resultados: 139 pacientes, con 25(OH)D3 media de 70,68 ± 25,20 nmol/l, mayor en los nacidos en primavera-verano que en otoño-invierno (80,94 ± 25,33 vs 61,13±21,07; p = 0,000). Los pacientes con EMO severa presentaron valores de 25(OH)D3 similares al resto de pacientes (65,61 ± 26,49 vs 72,07 ± 24,89; p = 0,283), y superiores de fosfatasa alcalina (FA) (1314,19 ± 506,67 vs 476,56 ± 188,85; p = 0,000). Mediante curva ROC se calculó un punto de corte de FA de 796,5 IU/l (S 95,2%, E 92,4%). Los FR más asociados al desarrollo de EMO severa fueron el crecimiento intrauterino restringido, el peso al nacimiento y la duración de ventiloterapia y nutrición parenteral. Conclusiones: Las cifras de FA son las que mejor se relacionan con el desarrollo de EMO severa. El riesgo de ésta aumenta a mayor número de factores de riesgo y menores cifras de vitamina D3. Niveles de 25(OH)D3 por encima de 70 nmol/l parecen proteger del desarrollo de EMO, incluso en pacientes con múltiples factores de riesgo.


Background: Metabolic bone disease (MBD) of prematurity is a complication of multifactorial aetiology, which has been increasing, due to progressive decrease in mortality of preterm newborns. The aim of the study was to analyze risk factors of severe MBD and its analytical markers. Patients and Method: Retrospective study involving preterm infants less than 32 weeks gestational age and/or weight less tan 1,500 g born between january 2012 and december 2014. Comparison was made according to the presence of severe MBD. Results: 139 patients were recruited. Mean value of 25(OH)D3 was 70.68 ± 25.20 nmol/L, being higher in patients born in spring-summer than in autumn-winter (80.94 ± 25.33 vs 61.13 ± 21.07; p = 0.000). Levels of 25(OH)D3 were similar in patients with severe MBD compared with the rest of patients (65.61 ± 26.49 vs 72.07 ± 24.89, P = 0.283). Higher levels of alkaline phosphatase (AP, IU/L ) (1314.19 ± 506.67 vs 476.56 ± 188.85; p = 0.000) were found in these patients. Cutoff point of AP 796.5 IU/L (S 95.2%, specificity 92.4%) was calculated by ROC curve. The risk factors most associated to severe EMO were restricted fetal growth, birth weight, duration of ventilation therapy and parenteral nutrition. Conclusions: AP levels were the best marker of severe MBD development. EMO risk increases with the number of risk factors and lower levels of 25(OH)D3. Levels of 25(OH)D3 higher than 70nmol/L appear to protect from the development of severe MBD, even in patients with multiple risk factors.


Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Doenças Ósseas Metabólicas/diagnóstico , Doenças Ósseas Metabólicas/etiologia , Doenças do Prematuro/diagnóstico , Doenças do Prematuro/etiologia , Doenças Ósseas Metabólicas/metabolismo , Recém-Nascido Prematuro , Biomarcadores/metabolismo , Estudos Retrospectivos , Fatores de Risco , Doenças do Prematuro/metabolismo
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