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BACKGROUND: Vitamin D is a hot topic in the scientific community. Its deficiency and the implications for the children's health became increasingly discussed during the last 20 years. The main aim of this retrospective study was to determinate the prevalence of vitamin D metabolism disorders in a population of adopted children and their risk factors. METHODS: We gathered data from 2140 children observed in five different National Working Group for the Migrant Children of the Italian Society of Pediatrics centers, variously located in Italy. Serum 25-hydroxy (OH)-D concentration was used to determine every child's vitamin D status, defined as severely deficient (serum 25-OH-D < 10 ng/ml), moderately deficient (serum 25-OH-D {≥10 ng/ml U < 20 ng/ml}), mildly deficient (serum 25-OH-D {≥20 ng/ml U < 30 ng/ml}) and normal (serum 25-OH-D ≥ 30 ng/ml). RESULTS: Mean value of serum 25-OH-D was 22.7 ng/ml (SD ± 12.1). Vitamin D status was deemed as normal in 483 (22.6%) children, mildly deficient in 718 (33.6%) children, moderately deficient in 730 (34.1%) children and severely deficient in 209 (9.8%) children. CONCLUSIONS: A very high percentage of migrant children is affected by hypovitaminosis D, with a strong association with age, geographic origin, season of blood sample collection and time spent in Italy after the arrival. This finding highlights the need for corrective measures. However, these measures cannot be applied without increasing the access of migrant populations to healthcare services.
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Migrantes , Deficiência de Vitamina D , Criança , Estudos Transversais , Humanos , Itália/epidemiologia , Estudos Retrospectivos , Vitamina D , Deficiência de Vitamina D/epidemiologiaRESUMO
OBJECTIVES: To describe a case of Kawasaki disease with intestinal involvement and to analyze other published reports to define clinical characteristics, diagnostic issues, and therapeutic approaches of gastrointestinal involvement in Kawasaki disease. STUDY DESIGN: A computerized search without language restriction was conducted using PubMed and SCOPUS. An article was considered eligible for inclusion in the systematic review if it reported data on patient(s) with intestinal involvement in Kawasaki disease. Our case was also included in the analysis. RESULTS: Thirty-three articles reporting 48 cases of Kawasaki disease with intestinal involvement were considered. Fever, abdominal pain, and vomiting were the most frequent symptoms observed and typical Kawasaki disease signs and symptoms appeared after intestinal complaints in all cases. Plain radiographs, ultrasonography, and computed tomography showed pseudo-obstruction as the most frequent sign of gastrointestinal involvement; 25 patients underwent surgery. Cardiac involvement was documented in 21 cases. All but three patients received medical treatment with immunoglobulin intravenous or aspirin. The outcome was good in 28 patients; 7 patients showed persistence of coronary artery abnormalities; 1 patient developed cyanosis, and later, left hand and forefoot gangrene; 3 patients died. CONCLUSIONS: The diagnosis and treatment of Kawasaki disease might be delayed if intestinal symptoms appear before the characteristic clinical features of Kawasaki disease, thus, increasing the risk of cardiac complications. Furthermore, patients may undergo unnecessary invasive procedures. Pediatricians and pediatric surgeons, therefore, should consider Kawasaki disease among diagnoses in children with fever, abdominal symptoms, and radiologic findings of pseudo-obstruction.
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Hospitalização , Imunoglobulinas Intravenosas/administração & dosagem , Enteropatias/diagnóstico por imagem , Síndrome de Linfonodos Mucocutâneos/diagnóstico , Tomografia Computadorizada por Raios X/métodos , Dor Abdominal/diagnóstico , Dor Abdominal/etiologia , Adolescente , Diagnóstico Diferencial , Febre/diagnóstico , Febre/etiologia , Testes Hematológicos/métodos , Hepatomegalia/diagnóstico , Hepatomegalia/diagnóstico por imagem , Humanos , Enteropatias/diagnóstico , Obstrução Intestinal/diagnóstico , Masculino , Síndrome de Linfonodos Mucocutâneos/tratamento farmacológico , Esplenomegalia/diagnóstico , Esplenomegalia/diagnóstico por imagemRESUMO
AIM: This study evaluated the prevalence of infectious diseases and immunisation status of children adopted from Africa. METHODS: We studied 762 African children referred to 11 Italian paediatric centres in 2009-2015. Clinical and laboratory data were retrospectively collected and analysed. RESULTS: The median age of the children (60.3% males) was 3 years and 6 months, 52.6% came from Ethiopia and 50.1% had at least one infectious disease. Parasitic infections accounted for the majority of the infectious diseases (409 of 715), and the most common were Giardia lamblia (n = 239), Toxocara canis (n = 65) and skin infections (n = 205), notably Tinea capitis/corporis (n = 134) and Molluscum contagiosum (n = 56) Active tuberculosis (TB) was diagnosed in nine children (1.2%). Latent TB infections were diagnosed in 52 (6.8%) children, and only 23 had concordant positive tuberculin skin tests and Quantiferon Gold In-Tube results. Discordant results were associated with Bacille de Calmette-Guérin vaccinations (odd ratio 6.30 and 95% confidence interval of 1.01-39.20, p = 0.011). Nonprotective antitetanus or antihepatitis B antibody titres were documented in 266 (34.9%) and 396 (51.9%) of the 762 children. CONCLUSION: The prevalence of infectious conditions and not-protective titres for vaccine-preventable diseases observed in our population underlines the need for prompt and complete medical screening of children adopted from Africa.
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OBJECTIVE: To evaluate the efficacy of combined pulse oximetry (POX) and perfusion index (PI) neonatal screening for severe congenital heart defects (sCHD) and assess different impacts of screening in tertiary and nontertiary hospitals. STUDY DESIGN: A multicenter, prospective study in 10 tertiary and 6 nontertiary maternity hospitals. A total of 42 169 asymptomatic newborns from among 50 244 neonates were screened; exclusion criteria were antenatal sCHD diagnosis, postnatal clinically suspected sCHD, and neonatal intensive care unit admission. Eligible infants underwent pre- and postductal POX and PI screening after routine discharge examination. Targeted sCHD were anatomically defined. Positivity was defined as postductal oxygen saturation (SpO2) ≤95%, prepostductal SpO2 gradient >3%, or PI <0.90. Confirmed positive cases underwent echocardiography for definitive diagnosis. Missed cases were identified by consulting clinical registries at 6 regional pediatric heart centers. Main outcomes were incidence of unexpected sCHD; proportion of undetected sCHD after discharge in tertiary and nontertiary hospitals; and specificity, sensitivity, positive predictive value, and negative predictive value of combined screening. RESULTS: One hundred forty-two sCHD were detected prenatally. Prevalence of unexpected sCHD was 1 in 1115 live births, similar in tertiary and nontertiary hospitals. Screening identified 3 sCHD (low SpO2, 2; coarctation for low PI, 1). Four cases were missed. In tertiary hospitals, 95% of unsuspected sCHDs were identified clinically, whereas only 28% in nontertiary units; in nontertiary units PI-POX screening increased the detection rate to 71%. CONCLUSIONS: PI-POX predischarge screening provided benefits in nontertiary units, where clinical recognition rate was low. PI can help identify coarctation cases missed by POX but requires further evaluation in populations with higher rates of missed cases.
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Cardiopatias Congênitas/diagnóstico , Triagem Neonatal/métodos , Oximetria/métodos , Gasometria/métodos , Estudos de Coortes , Cardiopatias Congênitas/epidemiologia , Maternidades , Humanos , Incidência , Recém-Nascido , Unidades de Terapia Intensiva Neonatal , Itália , Masculino , Consumo de Oxigênio/fisiologia , Estudos Prospectivos , Medição de Risco , Sensibilidade e Especificidade , Índice de Gravidade de Doença , Centros de Atenção TerciáriaRESUMO
In the pediatric population, abdominal compartment syndrome (ACS) is a known complication of abdominal wall defect repair. However, there are only few reports on ACS in newborns and only a proposal of critical intra-abdominal pressure value (IAP) in term newborns, absent in preterm newborns. Although the prevalent clinical sign is tense abdominal distension, it may be difficult to distinguish ACS from pathologies that will not require decompression. The purpose of this study was to identify predictors for ACS and therefore morbidity or mortality indicators. We reviewed newborns presenting with tense abdominal distension and end organ failure. Anamnestic, clinical, laboratory, and instrumental investigations were analyzed to extrapolate predictors. Outcomes were compared with a control group. The incidence of ACS in our neonatal intensive care unit was 5% in the overall population of babies, 16% in tracheal-ventilated newborns, and 57% in infants with abdominal wall defects. We found that, with onset of acidosis or high gastric residuals, the lactate values will be predictive for mortality. We can also suggest paying particular attention to high lactate values just at the onset of distension, in infants with more advanced gestational age, with previously surgical repair, to determine early surgical intervention independently of a specific IAP measurement.
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Parede Abdominal/cirurgia , Hipertensão Intra-Abdominal/diagnóstico , Hipertensão Intra-Abdominal/epidemiologia , Ácido Láctico/sangue , Respiração Artificial , Parede Abdominal/anormalidades , Índice de Apgar , Estudos de Casos e Controles , Feminino , Idade Gestacional , Humanos , Incidência , Recém-Nascido , Hipertensão Intra-Abdominal/sangue , Intubação Intratraqueal , Masculino , Estudos RetrospectivosRESUMO
BACKGROUND: Increases in migration patterns in the recent years have led to a continuously growing number of unaccompanied foreign minors (UFMs) entering Italy. As part of processing and integration, age assessment is performed by pediatricians upon request of regulatory bodies. Updated guidelines for age estimation procedures were published in 2020 in order to prioritize the well-being of the minors and the accuracy of the assessment. Nonetheless, literature suggests that the recently established multidisciplinary approach has not yet been widely adopted by physicians. METHODS: A cross-sectional exploratory survey was distributed to pediatricians in Italy in order to gauge their range of experience with UFMs and age assessment protocols. RESULTS: In total 344 pediatricians participated in the survey, originating from varied regions in Italy. Out of pediatricians who reported conducting age assessment procedures (38.9%), only a small fraction (14.2%) confirmed being knowledgeable about the methodology. Instead, a significant portion (28.8% and 56.4%) either had partial awareness or lacked knowledge of these procedures. These responses significantly differed when comparing hospital and outpatient pediatricians or according to their geographical area of work (p <0.05). CONCLUSION: Survey responses suggest that a gap in awareness and experience regarding a multidisciplinary approach to age estimations still exists, likely in part due to a lack of resources, especially at the regional level. In the future, efforts towards the education of professionals and mobilization of resources for investment in the field will be crucial for the improvement of work with UFMs and other migrant populations.
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Menores de Idade , Pediatras , Humanos , Itália , Estudos Transversais , Masculino , Feminino , Inquéritos e Questionários , Adolescente , Padrões de Prática Médica/estatística & dados numéricos , Conhecimentos, Atitudes e Prática em Saúde , Emigrantes e Imigrantes , CriançaAssuntos
Fístula Arteriovenosa/complicações , Fístula Arteriovenosa/diagnóstico por imagem , Anomalias dos Vasos Coronários/complicações , Anomalias dos Vasos Coronários/diagnóstico por imagem , Síndrome de Down/complicações , Comunicação Interventricular/diagnóstico por imagem , Fístula Arteriovenosa/cirurgia , Anomalias dos Vasos Coronários/cirurgia , Vasos Coronários/diagnóstico por imagem , Vasos Coronários/cirurgia , Diagnóstico Diferencial , Ecocardiografia , Feminino , Comunicação Interventricular/complicações , Comunicação Interventricular/cirurgia , Humanos , Recém-Nascido , Ultrassonografia Pré-Natal/métodos , Veia Cava Superior/anormalidades , Veia Cava Superior/diagnóstico por imagem , Veia Cava Superior/cirurgiaRESUMO
Infantile hemangiomas may affect the quality of life (QoL) of patients and their family members, as anxiety and worry may commonly occur in parents, also linked to the social adversion they experience. We underline the beneficial impact of oral propranolol therapy on QoL of patients with infantile hemangiomas (IH) and of their relatives. A specific questionnaire measuring QoL was administered to parents of IH patients at beginning and end of a treatment with oral propranolol. Different aspects were investigated: site of the lesion, age of patients at starting therapy, length of treatment, occurrence of adverse effects and persistence/recurrence of the vascular anomaly. In all cases the questionnaire revealed a significant improvement of QoL, which was independent from all analyzed factors. It showed that oral propranolol administration in these patients combines optimal clinical results with relevant improvement of QoL, especially in cases of early management. The improvement of QoL seems unrelated to site of lesion, timing and duration of therapy, occurrence of drug-related adverse effects and persistence/recurrence of disease.
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Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Hemangioma Capilar , Neoplasias Cutâneas , Administração Oral , Hemangioma Capilar/tratamento farmacológico , Humanos , Lactente , Propranolol/efeitos adversos , Qualidade de Vida , Neoplasias Cutâneas/induzido quimicamente , Neoplasias Cutâneas/tratamento farmacológico , Inquéritos e Questionários , Resultado do TratamentoRESUMO
We report on two cases of low-birth-weight preterm infants with patent ductus venosus associated with hepatic hypoechoic lesions of the fourth segment in an otherwise normal liver. Although tumorlike hepatic lesions have been previously reported in association with portosystemic shunts in children and adults, they were never described in preterm infants during physiological patency of ductus venosus. In our patients, hepatic lesions disappeared shortly after the spontaneous ductus closure. Physiopathologic interactions are discussed regarding altered portal blood supply caused by ductus venosus shunt.
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Hiperplasia Nodular Focal do Fígado/diagnóstico por imagem , Veias Hepáticas/anormalidades , Fígado/irrigação sanguínea , Fígado/diagnóstico por imagem , Sistema Porta/anormalidades , Adulto , Feminino , Idade Gestacional , Humanos , Recém-Nascido de Baixo Peso , Recém-Nascido , Recém-Nascido Prematuro , Circulação Hepática , Masculino , UltrassonografiaRESUMO
BACKGROUND: Malnutrition is a multifactorial pathology in which genetic, epigenetic, cultural, environmental, socio-economic factors interact with each other. The impact that this disease has on the health of children worldwide is dramatic. Severe acute malnutrition in particular is a disease affecting nearly 20 million preschool children worldwide, most of them in Africa and South East Asia. OBJECTIVES: This work aims to investigate potential prognostic factors in the clinical evolution of acute malnutrition and potential risk factors for the development of the disease. METHODS: Our study was carried out at the "Hospital da Missão Catolica do Chiulo", in Angola, where the NGO Doctors with Africa CUAMM has been operating since 2000. In the first part of the study we analyzed the characteristics and clinical evolution of 163 patients hospitalized for acute malnutrition at the UEN (Unidade Especial de Nutrição) of the Chiulo Hospital over a period of 6 months, in order to identify potential prognostic factors of the disease. The second part of our study was carried out by administering a questionnaire to a group of caregivers of malnourished children and to a group of caregivers of non-malnourished children admitted to Pediatrics for other causes, with the aim of identifying potential risk factors for the development of malnutrition. RESULTS AND CONCLUSIONS: The analysis of prognostic factors revealed that the most relevant are the WHZ (weight for height z-score) at the time of admission, the presence of Stunting and the presence of other pathologies or clinical conditions associated with severe acute malnutrition. The analysis of risk factors has shown that not only food shortages, but also errors in the timing of the suspension of breastfeeding and the timing of the introduction of complementary foods play an important role. Equally important were some family risk factors, including the size of the family unit and the presence of deceased children. It also emerged that the lack of knowledge of what a child needs to grow up healthy often affects the development of malnutrition. It follows that a useful and low-cost tool for preventing child malnutrition would be large-scale nutrition education campaigns.
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Transtornos da Nutrição Infantil/epidemiologia , Hospitalização , Angola/epidemiologia , Estatura , Peso Corporal , Pré-Escolar , Características da Família , Feminino , Segurança Alimentar , Humanos , Lactente , Masculino , Prognóstico , Fatores de RiscoRESUMO
BACKGROUND: The optimal management of PDA in very low birth weight (VLBW) infants is still controversial. Aim of our study was to investigate the management of PDA in the Italian neonatal intensive care units (NICU). METHODS: We conducted an on-line survey study from June to September 2017. A 50-items questionnaire was developed by the Italian Neonatal Cardiology Study Group and was sent to Italian NICUs. RESULTS: The overall response rate was 72%. Diagnosis of PDA was done by neonatologists, cardiologists or both (62, 12 and 28% respectively). PDA significance was assessed by a comprehensive approach in all centers, although we found a heterogeneous combination of parameters and cut-offs used. None used prophylactic treatment. 19% of centers treated PDA in the first 24 h, 60% after the first 24 h, following screening echocardiography or clinical symptoms, 18% after the first 72 h and 2% after the first week. In the first course of treatment ibuprofen, indomethacin and paracetamol were used in 87, 6 and 7% of centers respectively. Median of surgical ligation was 3% (1-6%). CONCLUSIONS: Significant variations exist in the management of PDA in Italy. Conservative strategy and targeted treatment to infants older than 24 h with echocardiographic signs of hemodynamic significance seemed to be the most adopted approach.
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Permeabilidade do Canal Arterial/terapia , Terapia Intensiva Neonatal , Padrões de Prática Médica , Estudos Transversais , Permeabilidade do Canal Arterial/complicações , Permeabilidade do Canal Arterial/diagnóstico por imagem , Ecocardiografia , Humanos , Recém-Nascido , Recém-Nascido de muito Baixo Peso , Unidades de Terapia Intensiva Neonatal , Itália , Estudos Prospectivos , Inquéritos e QuestionáriosRESUMO
BACKGROUND: Neonatologist performed echocardiography (NPE) has increasingly been used to assess the hemodynamic status in neonates. Aim of this survey was to investigate the utilization of NPE in Italian neonatal intensive care units (NICUs). METHODS: We conducted an on-line survey from June to September 2017. A questionnaire was developed by the Italian neonatal cardiology study group and was sent to each Italian NICU. RESULTS: The response rate was 77%. In 94% of Italian NICUs functional echocardiography was used by neonatologists, cardiologists or both (57, 15 and 28% respectively). All the respondents used NPE in neonates with patent ductus arteriosus and persistent pulmonary hypertension, 93% in neonates with hypotension or shock, 85% in neonates with perinatal asphyxia, 78% in suspicion of cardiac tamponade, and 73% for line positioning. In 30% of center, there was no NPE protocol. Structural echocardiography in stable and critically ill neonates was performed exclusively by neonatologists in 46 and 36% of center respectively. CONCLUSIONS: NPE is widely used in Italian NICUs by neonatologists. Structural echocardiography is frequently performed by neonatologists. Institutional protocols for NPE are lacking. There is an urgent need of a formal training process and accreditation to standardize the use of NPE.
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Ecocardiografia/estatística & dados numéricos , Cardiopatias Congênitas/diagnóstico por imagem , Unidades de Terapia Intensiva Neonatal , Neonatologistas/estatística & dados numéricos , Padrões de Prática Médica/estatística & dados numéricos , Hemodinâmica , Humanos , Recém-Nascido , Itália , Inquéritos e QuestionáriosRESUMO
Paracetamol (acetaminophen or N-acetyl-p-aminophenol) is considered a safe analgesic and antipyretic nonsteroidal antiinflammatory drug commonly used during pediatric ages and during pregnancy. We report on a term neonate with closed ductus arteriosus, severe cardiomyopathy, right ventricular dysfunction, and functional stenosis of pulmonary arteries at birth after maternal self-medication with paracetamol and consumption of polyphenol-rich foods in late pregnancy. This drug, especially when associated with other vasoconstrictors (such as polyphenols), interferes with prostaglandin metabolism, which seriously accentuates the intrauterine ductus arteriosus constriction and leads to pharmacologic adverse events. We suggest maternal educational programs to avoid risky self-medications and provide training for the best diets.
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Acetaminofen/efeitos adversos , Analgésicos não Narcóticos/efeitos adversos , Cardiomiopatias/induzido quimicamente , Canal Arterial/efeitos dos fármacos , Efeitos Tardios da Exposição Pré-Natal , Disfunção Ventricular Direita/induzido quimicamente , Dieta Mediterrânea/efeitos adversos , Feminino , Sopros Cardíacos/induzido quimicamente , Humanos , Recém-Nascido , Polifenóis/efeitos adversos , Gravidez , Estenose da Valva Pulmonar/induzido quimicamente , Automedicação , Vasoconstritores/efeitos adversosRESUMO
OBJECTIVE: Metabolic alterations of intrauterine environment in diabetes mellitus (DM) lead to fetal cardiac dysfunctions that can persist after birth. The aim of the study was to assess the cardiovascular adaptation in infants born to diabetic mothers (IDM) with different degrees of glycometabolic control, in relation to revised guidelines for diagnosis of DM and quality improvements in neonatal care. MATERIALS AND METHODS: An observational case-control study was conducted on IDM with gestational, type 1 and type 2 DM. Relevant maternal and neonatal anamnestic, clinical and laboratory data were analyzed. Electrocardiographic and echocardiographic analyses, including structural and systo-diastolic evaluation, were performed. RESULTS: In 68 IDM enrolled, we observed a lower incidence of negative perinatal outcome than expected. Comparing to non-IDM, they presented larger fetal shunts, higher pulmonary pressures, early and atrial wave velocities. At 72 hours, kinesis and heart rate variability remained low. Cerebral blood flow velocities were higher. The most serious impairment of transition was in pregestational IDM. CONCLUSION: Maternal DM impaired neonatal transitional hemodynamics also in asymptomatic IDM with good glycometabolic control. These results confirm the need for an early cardiologic and cerebrovascular evaluation, to identify IDM with delayed maturation at risk of worse long-term metabolic, cardiovascular, and neurodevelopmental outcome.
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Diabetes Gestacional , Coração/fisiologia , Recém-Nascido/fisiologia , Adulto , Velocidade do Fluxo Sanguíneo , Estudos de Casos e Controles , Circulação Cerebrovascular , Ecocardiografia , Eletrocardiografia , Feminino , Humanos , Masculino , GravidezRESUMO
BACKGROUND: The aim of this study was to define different characteristics of infants with esophageal atresia and correlations with neonatal level of care, morbidity and mortality occurring during hospital stay. METHODS: Charts of all newborns with esophageal atresia (EA) admitted to our University NICU between January 2003 and November 2016 were reviewed and subdivided in four groups related to different clinical presentations; EA as an isolated form (A), with a concomitant single malformation (B), as VACTERL association (C), and in the context of a syndrome or an entity of multiple congenital anomalies (D). RESULTS: We recruited 67 infants with EA (with or without tracheoesophageal fistula), distributed in groups as follows: A 31.3%, B 16.4%, C 26.8% and D 25.3%. Type of atresia was not statistically different among different groups. Mortality was higher in groups C and D, especially if associated with congenital heart defects. In survivors, we found different auxological evolution and prognostic profiles considering duration in days of invasive mechanical ventilation and total parenteral nutrition, as well as length of stay and corrected gestational age at discharge. CONCLUSIONS: In the context of genetic and syndromic entities, subjects with VACTERL association showed a lower mortality rate although a higher and more complex level of intensive care was noted in comparison to infants without VACTERL genetic and syndromic entities.
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Anormalidades Múltiplas/epidemiologia , Canal Anal/anormalidades , Atresia Esofágica/diagnóstico , Esôfago/anormalidades , Predisposição Genética para Doença/epidemiologia , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/genética , Mortalidade Hospitalar , Rim/anormalidades , Deformidades Congênitas dos Membros/diagnóstico , Deformidades Congênitas dos Membros/genética , Coluna Vertebral/anormalidades , Traqueia/anormalidades , Anormalidades Múltiplas/diagnóstico , Estudos de Coortes , Bases de Dados Factuais , Atresia Esofágica/epidemiologia , Atresia Esofágica/genética , Feminino , Idade Gestacional , Cardiopatias Congênitas/epidemiologia , Humanos , Recém-Nascido , Unidades de Terapia Intensiva Neonatal , Tempo de Internação , Deformidades Congênitas dos Membros/epidemiologia , Masculino , Prognóstico , Estudos Retrospectivos , Medição de Risco , Análise de SobrevidaRESUMO
BACKGROUND: Cytomegalovirus is the most common cause of congenital infection in the developed countries. Gastrointestinal involvement has been extensively described in both adult and paediatric immunocompromised patients but it is infrequent in congenital or perinatal CMV infection. CASE PRESENTATION: We report on a case of coexistent congenital Cytomegalovirus infection with intestinal malrotation and positive intestinal Cytomegalovirus biopsy. At birth the neonate showed clinical and radiological evidence of intestinal obstruction. Meconium passed only after evacuative nursing procedures; stooling pattern was irregular; gastric residuals were bile-stained. Laparatomy revealed a complete intestinal malrotation and contextually gastrointestinal biopsy samples of the appendix confirmed the diagnosis of CMV gastrointestinal disease. Intravenous ganciclovir was initiated for 2 weeks, followed by oral valgancyclovir for 6 month. CONCLUSION: CMV-induced proinflammatory process may be responsible of the interruption of the normal development of the gut or could in turn lead to a disruption in the normal development of the gut potentiating the mechanism causing malrotation. We suggest the hypothesis that an inflammatory process induced by CMV congenital infection may be responsible, in the early gestation, of the intestinal end-organ disease, as the intestinal malrotation. CMV infection should always be excluded in full-term infants presenting with colonic stricture or malrotation.
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Infecções por Citomegalovirus/congênito , Anormalidades do Sistema Digestório/virologia , Volvo Intestinal/virologia , Infecções por Citomegalovirus/tratamento farmacológico , Anormalidades do Sistema Digestório/cirurgia , Humanos , Recém-Nascido , Volvo Intestinal/cirurgia , Masculino , Reação em Cadeia da PolimeraseRESUMO
BACKGROUND: Congenital gastrointestinal system malformations/abdominal wall defects (GISM) may appear as isolated defects (single or complex), or in association with multiple malformations. The high incidence of association of GISM and congenital heart defects (CHD) in patients with syndromes and malformative sequences is known, but less expected is the association of apparently isolated single GISM and CHD. The aim of this study was to investigate the frequency of CHD in newborns with isolated GISM, and the possibility to modify the diagnostic-therapeutic approach just before the onset of cardiac symptoms or complications. METHODS: Anamnestic, clinical, and imaging data of newborns requiring abdominal surgery for GISM, between 2009 and 2014, were compared with a control group of healthy newborns. Distribution of GISM and cardiovascular abnormalities were analyzed, and risk factors for adverse outcomes were identified. RESULTS: Seventy-one newborns with isolated GISM were included in this study. More frequent GISM were intestinal rotation and fixation disorders. CHD were observed in 15.5% of patients, augmenting their risk for morbidity. Risk factors for morbidity related to sepsis were identified in central venous catheter, intestinal stoma, and H2-inhibitor-drugs. Moreover, 28.2% of newborns presented only functional cardiac disorders but an unexpectedly higher mortality. CONCLUSIONS: The high incidence of congenital heart disease in infants with apparently isolated GISM confirms the need to perform an echocardiographic study before surgery to improve perioperative management and prevent complications such as sepsis and endocarditis.
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Gastroenteropatias/epidemiologia , Trato Gastrointestinal/anormalidades , Cardiopatias Congênitas/epidemiologia , Feminino , Gastroenteropatias/complicações , Gastroenteropatias/diagnóstico , Cardiopatias Congênitas/diagnóstico , Humanos , Recém-Nascido , Unidades de Terapia Intensiva Neonatal/estatística & dados numéricos , Masculino , Estudos RetrospectivosRESUMO
BACKGROUND: VATER association was first described in 1972 by Quan and Smith as an acronym which identifies a non-random co-occurrence of Vertebral anomalies, Anal atresia, Tracheoesophageal fistula and/or Esophageal atresia, Radial dysplasia. It is even possible to find out Cardiovascular, Renal and Limb anomalies and the acronym VACTERL was adopted, also, embodying Vascular, as single umbilical artery, and external genitalia anomalies. METHODS: Data on patients with esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) admitted in the Neonatal Intensive Care Unit (NICU) between January 2003 and January 2013 were evaluated for the contingent occurrence of typical VACTERL anomalies (VACTERL-type) and non tipical VACTERL anomalies (non-VACTERL-type). The inclusion criterion was the presence of EA with or without TEF plus two or more of the following additional malformations: vertebral defects, anal atresia, cardiovascular defects, renal anomalies and lower limb deformities, like radial dysplasia. RESULTS: Among 52 patients with EA/TEF, 20 (38,4%) had isolated EA and 7 (21,8%) had a recognized etiology such a syndrome and therefore were excluded. Among 32 infants with EA and associated malformations, 15 (46,8%) had VACTERL association. The most common anomalies were congenital heart defects (73,3%), followed by vertebral anomalies (66,6%). Many patients also had additional non-VACTERL-type defects. Single umbilical artery was the most common one followed by nervous system abnormalities and anomalies of toes. Between the groups of infants with VACTERL type and non-VACTERL-type anomalies, there are several overlapping data regarding both the tipically described spectrum and the most frequently reported non-VACTERL-type malformations. Thus, it is possible to differentiate infants with a full phenotype (VACTERL full phenotype) and patients that do not meet all the criteria mentioned above, but with some homologies with the first group (VACTERL partial phenotype). CONCLUSION: The high frequency of non-VACTERL-type anomalies encountered in full and partial phenotype patients would suggest the need for an extension of the clinical criteria for the diagnosis of VACTERL association and also for pre- and post-operative management and follow-up in the short and long term.
Assuntos
Canal Anal/anormalidades , Atresia Esofágica/diagnóstico , Atresia Esofágica/epidemiologia , Esôfago/anormalidades , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/epidemiologia , Rim/anormalidades , Deformidades Congênitas dos Membros/diagnóstico , Deformidades Congênitas dos Membros/epidemiologia , Coluna Vertebral/anormalidades , Traqueia/anormalidades , Anus Imperfurado/diagnóstico , Anus Imperfurado/epidemiologia , Atresia Esofágica/genética , Feminino , Cardiopatias Congênitas/genética , Humanos , Recém-Nascido , Unidades de Terapia Intensiva Neonatal/estatística & dados numéricos , Deformidades Congênitas dos Membros/genética , Masculino , Malformações do Sistema Nervoso/diagnóstico , Malformações do Sistema Nervoso/epidemiologia , Fenótipo , Prevalência , Estudos Retrospectivos , Sicília/epidemiologia , Síndrome , Dedos do Pé/anormalidades , Artérias Umbilicais/anormalidadesRESUMO
We report a newborn girl with a de novo terminal 4q deletion (q31.3 --> qter) and a characteristic phenotype of minor facial anomalies, cleft palate, congenital heart defect, abnormalities of hands and feet, and postnatal onset of growth deficiency. Laboratory studies showed excessive urinary calcium excretion on standard milk formula and on oral calcium load. Blood measurements of parathyroid hormone, calcitonin, bicarbonate, calcium, phosphorus, magnesium, sodium, chlorine, potassium, and urinary measurements of phosphorus, magnesium, sodium, chlorine, potassium were normal for age. At 2 months of life, ultrasonography showed kidney calcifications. Clinical and laboratory data support the diagnosis of absorptive hypercalciuria or abnormal regulation of calcium-sensing receptors in the renal tubules. The evidence of hypercalciuria and kidney calcifications associated with 4q terminal deletion strengthens the hypothesis that a putative gene for hypercalciuria is located on the terminal segment of chromosome 4q.