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1.
Children (Basel) ; 11(9)2024 Sep 19.
Artigo em Inglês | MEDLINE | ID: mdl-39334670

RESUMO

BACKGROUND: Attendance to neonatal follow-up programs presents a significant factor associated with positive long-term outcomes of high-risk infants. Strategies to maximize participation benefit not only future interventions' effectiveness but also healthcare systems and society. While a number of studies have focused on attrition or loss to follow-up, no studies have focused on the contributive risk factors to abstaining from neonatal follow-up programs specifically during the COVID-19 pandemic. This study aims to reveal the main factors linked to non-compliance in a neonatal follow-up program of a tertiary hospital. METHODS: In this ambidirectional observational study, data from 1137 high-risk neonates who participated in a hospital follow-up program were collected (573 before and 564 after the COVID-19 pandemic). The study sample was grouped to three groups: G1 (N = 831), who maintained participation in the program; G2 (N = 196), who discontinued; and G3 (N = 110), who never visited the outpatient clinics. Data were obtained from the hospital's Systems Applications and Products (SAP) Software and a structured questionnaire, answered by parents of newborns either discontinuing (G2) or not attending (G3) the follow-up program through a telephone contact. RESULTS: The most frequently reported reason for discontinuance before the pandemic onset was the parents' perception of no necessity to maintain participation (44.12%). During the COVID-19 pandemic, provider-related barriers to maintaining hospital access, inability to provide high-quality services (37.14%), and feelings of fear and insecurity (18.5%) emerged as factors for non-attendance. Citizenship and morbidity (respiratory distress syndrome, sepsis, necrotic enterocolitis, jaundice) acted as incentives to join the follow-up program during both study periods. Multiple regression analysis showed that multiple-gestation infants had higher odds of maintaining participation during the COVID-19 period (OR, 4.04; CI, 1.09-14.9). CONCLUSIONS: Understanding the potential impact of COVID-19 and the transformative changes in neonatal follow-up clinics is crucial for applying compliance strategies. Removing barriers to maintain family participation can lead to increased attendance rates.

2.
Children (Basel) ; 11(7)2024 Jul 18.
Artigo em Inglês | MEDLINE | ID: mdl-39062320

RESUMO

Antibiotic, analgesic sedative, and antiseizure medications are among the most commonly used medications in preterm/sick neonates, who are at high risk of nosocomial infections, central nervous system complications, and are exposed to numerous painful/stressful procedures. These severe and potentially life-threatening complications may have serious short- and long-term consequences and should be prevented and/or promptly treated. The reported variability in the medications used in neonates indicates the lack of adequate neonatal studies regarding their effectiveness and safety. Important obstacles contributing to inadequate studies in preterm/sick infants include difficulties in obtaining parental consent, physicians' unwillingness to recruit preterm infants, the off-label use of many medications in neonates, and other scientific and ethical concerns. This review is an update on the use of antimicrobials (antifungals), analgesics (sedatives), and antiseizure medications in neonates, focusing on current evidence or knowledge gaps regarding their pharmacokinetics, indications, safety, dosage, and evidence-based guidelines for their optimal use in neonates. We also address the effects of early antibiotic use on the intestinal microbiome and its association with long-term immune-related diseases, obesity, and neurodevelopment (ND). Recommendations for empirical treatment and the emergence of pathogen resistance to antimicrobials and antifungals are also presented. Finally, future perspectives on the prevention, modification, or reversal of antibiotic resistance are discussed.

3.
Cureus ; 16(5): e60901, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38910728

RESUMO

Preeclampsia is a human-specific hypertensive disorder of gestation. It is associated with short-term adverse effects in the fetus and long-term complications in the neonate, mainly due to disrupted blood flow during critical periods of intrauterine development. An ischemic event in the uterus can affect many systems of the fetus, including a small bowel involvement. We present a case of a preterm, small for gestational age neonate with severe intrauterine growth restriction, small bowel stenosis, and volvulus without malrotation, born to a mother with severe preeclampsia.

4.
Children (Basel) ; 11(4)2024 Apr 19.
Artigo em Inglês | MEDLINE | ID: mdl-38671707

RESUMO

Anti-hypotensive treatment, which includes dopamine, dobutamine, epinephrine, norepinephrine, milrinone, vasopressin, terlipressin, levosimendan, and glucocorticoids, is a long-established intervention in neonates with arterial hypotension (AH). However, there are still gaps in knowledge and issues that need clarification. The main questions and challenges that neonatologists face relate to the reference ranges of arterial blood pressure in presumably healthy neonates in relation to gestational and postnatal age; the arterial blood pressure level that potentially affects perfusion of critical organs; the incorporation of targeted echocardiography and near-infrared spectroscopy for assessing heart function and cerebral perfusion in clinical practice; the indication, timing, and choice of medication for each individual patient; the limited randomized clinical trials in neonates with sometimes conflicting results; and the sparse data regarding the potential effect of early hypotension or anti-hypotensive medications on long-term neurodevelopment. In this review, after a short review of AH definitions used in neonates and existing data on pathophysiology of AH, we discuss currently available data on pharmacokinetic and hemodynamic effects, as well as the effectiveness and safety of anti-hypotensive medications in neonates. In addition, data on the comparisons between anti-hypotensive medications and current suggestions for the main indications of each medication are discussed.

5.
Arch Bone Jt Surg ; 11(3): 197-205, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37168591

RESUMO

Objectives: Developmental dysplasia of the hip (DDH) is a condition with variation among ethnicities and regions. We aimed to investigate the effect of a gestational week of birth on the sonographic acetabular hip angles of newborns. Methods: We prospectively scanned the hips of neonates born in a single, tertiary hospital during their first week of life, using the Graf sonographic method. Demographics, obstetric history of the mother, birth weight, parity, presentation, family history of developmental dysplasia of the hip (DDH), gender, mode of delivery, single/multiple birth, and gestational age were recorded. Acetabular α and ß angles were measured, and hip type was determined according to Graf's classification. Patients were divided according to the gestational age of birth (<37 weeks, 37-38, 38-39, 39-40, >40 weeks). Results: From May- October 2020, 342 babies (684 hips) were examined (52.9% males / 47.1% females). 76.7% were Caucasian-Greek, and 88.3% were term babies. There was a significant difference between the α-angles of the right and left hip in both genders. More females had Type II hips than males. Subgroup analysis did not reveal a significant difference in hip angles of term babies. There was no correlation between birth weight or gestational age and hip angles. Female gender and the existence of maternal thyroidopathy were positively correlated with Type II hips. Conclusion: Gestational birth age in term infants is unimportant regarding acetabular hip angles. Female gender and maternal thyroidopathy appeared to be related to hip type. Further investigation may be warranted to elucidate the effect of maternal thyroidopathy and hip development.

6.
Res Pract Thromb Haemost ; 7(2): 100100, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37063768

RESUMO

Background: Neonatal sepsis is frequently accompanied by coagulopathy and thrombocytopenia attributed to the cross-link between inflammation and coagulation. However, sepsis-induced coagulopathy and platelet function in septic preterm neonates remain to be elucidated. In addition, there is no robust evidence for a causal relationship between thrombocytopenia and bleeding in preterm neonates with sepsis. Objective: This single-center prospective cohort study aimed to assess sepsis-induced coagulopathy and platelet function in preterm neonates during sepsis. Methods: We included 25 preterm neonates with Gram-positive sepsis born at gestational age 24 + 1 to 34 + 3 and studied in comparison to 30 healthy counterparts. Coagulation was assessed using conventional coagulation tests (CCTs) and rotational thromboelastometry (ROTEM). Platelet function was evaluated by flow cytometry. The study was conducted at 3-time points, at 1st, at 2nd to 3rd, and at 5th to 7th day of sepsis, respectively. Results: Compared with healthy controls, neonates with Gram-positive sepsis present in ROTEM a hypercoagulable state; a higher maximum clot firmness (MCF) and higher amplitudes of intrinsic rotational thromboelastometry (INTEM) (INTEM MCF: median, 71; P .004 and INTEM A10: median, 67; P .005, respectively), extrinsic rotational thromboelastometry (EXTEM) (EXTEM MCF: median, 70; P .02 and EXTEM A10: median, 67; P .02, respectively), and rotational thromboelastometry assay for fibrin formation (FIBTEM) (FIBTEM MCF: median, 25; P < .001 and FIBTEM A10: median, 23; P .002, respectively). Conversely, CCTs exhibited hypocoagulation. Thrombocytopenia in preterm neonates with Gram-positive sepsis is not associated with an increased bleeding risk. In Gram-positive sepsis, platelets display increased glycoprotein (GP) surface receptors' expression (GPIb: median, 2.8; P .03, GPIIb: median, 3.1; P .004, and GPIIIa: median, 3.9; P .008, respectively) and reduced activation (P-selectin: median, 1; P < .001). A higher expression of platelets GP and improved degranulation capacity were recorded in patients in higher gestational age groups of >32 weeks of gestation. Platelet GPIb expression is age-dependent in healthy neonates. Conclusion: Neonatal Gram-positive sepsis is characterized by a progressive hypercoagulation along with increased GP expression, reduced platelet activation, and thrombocytopenia without bleeding. Platelet GP expression and degranulation capacity are age-dependent among neonates with sepsis. Platelet GP expression is age-dependent among healthy counterparts.

7.
Int J Lab Hematol ; 44(5): 952-958, 2022 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-35815444

RESUMO

INTRODUCTION: The aim of our study was to establish reference ranges for neonatal coagulation and fibrinolysis parameters and to investigate their relationship with gestational age (GA) and birth weight (BW). METHODS: A single-centre prospective study was conducted in all healthy neonates born in our hospital during the study period, excluding those with maternal or neonatal disorders and diseases that affect haemostasis. The following parameters were measured: fibrinogen, prothrombin time (PT), international normalized ratio (INR), activated partial thromboplastin time (aPTT) as well as factors II, V, VII, VIII, IX, X, XI and XII, von Willebrand (vWF), protein C, free protein S, antithrombin (AT), activated protein C resistance (APCr), tissue plasminogen activator (tPA) and plasminogen activator inhibitor-1 (PAI-1). RESULTS: Study population consisted of 327 neonates. Fibrinogen, AT III, proteins C and S, PAI-1, vWF and factors II, V, VIII, IX, XI and XII were positively correlated, while PT, aPPT, INR, APCr and tPA were negatively correlated with GA and BW. Proteins C and S, factors II, VIII, IX, XI and vWF, as well AT III and PAI-1 had a significant positive linear correlation with GA, while aPTT had a significant negative one. Fibrinogen, and factors V, VII and XII had a significant positive linear correlation with BW, while factor VIII, tPA, as well PT and INR had a significant negative one. CONCLUSION: Fibrinogen, AT III, proteins C and S, PAI-1, vWF and factors II, V, VIII, IX, XI and XII increase with GA and BW.


Assuntos
Hemostáticos , Inibidor 1 de Ativador de Plasminogênio , Peso ao Nascer , Fatores de Coagulação Sanguínea/metabolismo , Fator V , Fibrinogênio , Idade Gestacional , Hemostasia , Humanos , Recém-Nascido , Estudos Prospectivos , Proteína C/metabolismo , Protrombina , Ativador de Plasminogênio Tecidual , Fator de von Willebrand
8.
Prague Med Rep ; 123(1): 48-55, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35248165

RESUMO

Parvovirus B19 infection in pregnancy may have a poor outcome for the fetus. Ocular anomalies, brain damage with hydrocephalus and central nervous system (CNS) scarring, cleft lip and hypospadias, as well myocarditis and congenital heart disease have been reported. We present a case of a preterm female neonate born with ascites, hydrothorax and congenital diaphragmatic eventration (CDE), with a prenatal diagnosis of congenital diaphragmatic hernia (CDH). The neonate was born prematurely at 32 weeks gestation with caesarean section due to a previous caesarean delivery. She was immediately intubated in the delivery room, transferred in the Neonatal Intensive Care Unit (NICU) and supported with high frequency oscillatory ventilation (HFOV). The diagnosis of CDH was sonographically estimated from the 20th week of gestation and surgical correction was decided. During surgery CDE was diagnosed instead of CDH and despite postoperatively care the neonate developed disseminated intravascular coagulation and finally died in the 40th hour of life. Along with the identification of parvovirus B19 in the pleural fluid by PCR, the biopsy of the diaphragm revealed connective tissue, full of vasculature and absence muscle tissue. Although only cytomegalovirus, rubella, and toxoplasmosis were considered to be associated with CDE, parvovirus B19 might also be related to this congenital diaphragmatic malformation. In CDE, the function of the lungs can be compromised as a consequence of the compression applied by the abdominal organs. The neonatologists should include this condition in their differential diagnosis for a more direct and effective management.


Assuntos
Eventração Diafragmática , Eritema Infeccioso , Parvovirus B19 Humano , Cesárea , Diafragma/anormalidades , Eventração Diafragmática/diagnóstico , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez
9.
Nurs Ethics ; 29(3): 569-581, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35142573

RESUMO

BACKGROUND: End-of-life decision-making for terminally ill neonates raises important legal and ethical issues. In Greece, no recent data on nurses' attitudes and involvement in end-of-life decisions are available. RESEARCH QUESTION/AIM: To investigate neonatal nurses' attitudes and involvement in end-of-life decisions and the relation to their socio-demographic and work-related background data. RESEARCH DESIGN: A survey was carried out in 28 neonatal intensive care units between September 2018 and January 2019. A structured questionnaire was distributed by post. PARTICIPANTS AND RESEARCH CONTEXT: The questionnaire was answered anonymously by 312 nurses (response rate, 71.1%) and returned to the investigators. ETHICAL CONSIDERATIONS: The study was approved by the Bioethics and Research Committee of Aretaieio Hospital in accordance with the Helsinki Declaration. FINDINGS: Nurses more often reported involvement in various end-of-life decisions, such as continuation of treatment without adding further therapeutic interventions for terminally ill neonates, while less reported were mechanical ventilation withdrawal and drug administration to end life. Nurses with a high attitude score, reflecting a more quality-of-life approach, were more likely to be involved in setting limits to intensive care. α low score was consistent with life preservation. Nurses' religiousness (p = 0.097), parenthood (p = 0.093), involvement in daily practice (p = 0.03), and position on the existing legal framework (p < 0.002) influenced their attitude score. DISCUSSION: The likelihood of nurses to support interventions in neonates with poor prognosis in neonatal intensive care units was related to their attitudes. After adjusting for potential confounders, the most important predictors for nurses' attitudes were parenthood, involvement in daily practice, and position supporting current legislation reform. CONCLUSION: Variability in involvement in end-of-life decisions among nurses exists on a national level.


Assuntos
Enfermeiros Neonatologistas , Assistência Terminal , Atitude do Pessoal de Saúde , Morte , Tomada de Decisões , Humanos , Recém-Nascido , Unidades de Terapia Intensiva , Unidades de Terapia Intensiva Neonatal , Inquéritos e Questionários
10.
Ger Med Sci ; 19: Doc09, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34539299

RESUMO

Objective: Neonatal seizures are alarming manifestations of an underlying significant disorder demanding immediate attention and intervention. Hypocalcemia, although rare, must be considered in the differential diagnosis of neonatal seizures. Method: We present an unusual case of a 10-day-old infant with unexplained symptomatic hypocalcemia, experiencing multiple episodes of focal tonic-clonic seizures, born by an entirely asymptomatic mother. Moreover, we conducted a systematic search in PubMed and Scopus databases to present a clinical overview of all similar cases. Result: Maternal laboratory investigation revealed markedly increased calcium levels with concomitant high parathyroid hormone levels due to a parathyroid adenoma, undiagnosed during antenatal checkup. Conclusion: This is one of the few cases in the literature where neonatal symptomatology led to the diagnosis of undiagnosed maternal hyperparathyroidism. Early detection and appropriate management of neonatal hypocalcemia could eliminate serious maternal and fetal morbidity.


Assuntos
Hipercalcemia , Hiperparatireoidismo , Hipocalcemia , Neoplasias das Paratireoides , Complicações na Gravidez , Feminino , Humanos , Hiperparatireoidismo/complicações , Hiperparatireoidismo/diagnóstico , Hipocalcemia/diagnóstico , Hipocalcemia/etiologia , Recém-Nascido , Hormônio Paratireóideo , Neoplasias das Paratireoides/complicações , Neoplasias das Paratireoides/diagnóstico , Neoplasias das Paratireoides/cirurgia , Gravidez , Complicações na Gravidez/diagnóstico
11.
J Perinat Med ; 49(9): 1145-1153, 2021 Nov 25.
Artigo em Inglês | MEDLINE | ID: mdl-34107572

RESUMO

OBJECTIVES: Multiple pregnancies sustain the high pace of extreme prematurity. Little evidence is available about triplet gestation given the evolution in their management during the last decades. The aim of the study was to compare the neonatal outcomes of triplets with those of matched singletons in a cohort study. METHODS: An observational retrospective cohort study of triplets and matched singletons born between 2004 and 2017 matched by gestational age was conducted. Additionally, the investigation performed in regard to data from the overall Greek population of interest. The primary outcome was mortality or severe neonatal morbidity based on pregnancy type. RESULTS: A total of 237 triplets of 24-36 weeks' gestation and 482 matched singletons were included. No differences in the primary outcome between triplets and singletons were found. Rates of severe neonatal morbidities did not differ significantly between triplets and singletons. A threshold of 1000 gr for birthweight and 28 weeks' gestation for gestational age determined survival on triplets [OR: 0.08 (95% CI: 0.02-0.40, p=0.0020) and OR: 0.13 (95% CI: 0.03-0.57, p=0.0020) for gestational age and birthweight respectively]. In Greece stillbirths in triplets was 8 times higher than that of singletons (OR: 8.5, 95% CI: 6.9-10.5). From 3,375 triplets, 94 were stillborn, whereas in singletons, 4,659 out of 1,388,273. In our center 5 times more triplets than the expected average in Greece were delivered with no significant difference in stillbirths' rates. CONCLUSIONS: No significant differences were identified in mortality or major neonatal morbidities between triplets and matched singletons highlighting the significance of prematurity and birthweight for these outcomes.


Assuntos
Idade Gestacional , Doenças do Recém-Nascido , Gravidez de Trigêmeos/estatística & dados numéricos , Natimorto/epidemiologia , Trigêmeos/estatística & dados numéricos , Peso ao Nascer , Estudos de Coortes , Feminino , Grécia/epidemiologia , Humanos , Lactente , Mortalidade Infantil/tendências , Recém-Nascido , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/epidemiologia , Terapia Intensiva Neonatal/estatística & dados numéricos , Masculino , Gravidez , Resultado da Gravidez/epidemiologia , Nascimento Prematuro/epidemiologia
12.
Clin Case Rep ; 8(12): 2541-2544, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33363775

RESUMO

Maternal diet before and during pregnancy plays an important role for the developing fetus. Any eating disorder in this period can cause transient or/and permanent negative effects on the mother and her offspring.

13.
Medicina (Kaunas) ; 56(12)2020 Nov 26.
Artigo em Inglês | MEDLINE | ID: mdl-33256108

RESUMO

Background and objectives: The aims of this study were to examine the relationship between neurological outcomes at 3- and 6-months corrected age with the neurodevelopmental outcome at 3 years of age; to identify the perinatal/neonatal risk factors for poor neurodevelopmental outcomes at 3 years of age. Materials and methods: In our single-centre longitudinal cohort study, of the 73 consecutive infants admitted to our Neonatal Intensive Care Unit (NICU), 49 infants (80%) received both Hammersmith Infant Neurological Examination (HINE) at 3- and 6-months corrected age and Bayley-III neurodevelopmental assessment at 2-3 years chronological age. At 3 months follow up, 8.2% had suboptimal scores (below 10th percentile) on the HINE. At 6 months follow up, 4.1% had suboptimal scores (below 10th percentile) on the HINE. The means(±SD) for Bayley-III cognitive, language, and motor subscales were (96.3 ± 9.8), (99.9 ± 11.9), (93.2 ± 9.9). Results: At 3 months corrected age, higher total HINE scores and subscores for function of cranial nerves, posture, tone, were associated with better cognitive scores while poorer scores for function of cranial nerves, posture, movements, tone, and total HINE score were associated with lower motor scores. Infants with a HINE subscore of function of cranial nerves in the suboptimal range have three times higher odds of having a motor delay. Infants with a HINE subscore of function of cranial nerves in the suboptimal range have more than two times higher odds of having a language delay. At 6 months corrected age, poorer scores for function of cranial nerves, movements, tone, reflexes, and total HINE score were associated with worse Bayley-III motor scores whilst infants who have a total HINE score and a subscore of reflexes in the suboptimal range have four and seven times, respectively, higher odds of having a motor delay. Conclusions: Early identification of infants at risk for adverse long-term outcomes is essential in introducing early intervention therapies for optimizing neurodevelopmental outcomes.


Assuntos
Recém-Nascido de Peso Extremamente Baixo ao Nascer , Transtornos do Desenvolvimento da Linguagem , Pré-Escolar , Humanos , Lactente , Recém-Nascido , Unidades de Terapia Intensiva Neonatal , Estudos Longitudinais , Exame Neurológico
14.
BMC Med Ethics ; 21(1): 121, 2020 11 23.
Artigo em Inglês | MEDLINE | ID: mdl-33225943

RESUMO

BACKGROUND: End-of-life decisions for neonates with adverse prognosis are controversial and raise ethical and legal issues. In Greece, data on physicians' profiles, motivation, values and attitudes underlying such decisions and the correlation with their background are scarce. The aim was to investigate neonatologists' attitudes in Neonatal Intensive Care Units and correlate them with self-reported practices of end-of-life decisions and with their background data. METHODS: A structured questionnaire was distributed to all 28 Neonatal Intensive Care Units in Greece. One hundred and sixty two out of 260 eligible physicians answered anonymously the questionnaire (response rate 66%). Demographic and professional characteristics, self-reported practices and opinions were included in the questionnaire, along with a questionnaire of 12 items measuring physicians' attitude and views ranging from value of life to quality of life approach (scale 1-5). RESULTS: Continuation of treatment in neonates with adverse prognosis without adding further therapeutic interventions was the most commonly reported EoL practice, when compared to withdrawal of mechanical ventilation. Physicians with a high attitude score (indicative of value of quality-of-life) were more likely to limit, while those with a low score (indicative of value of sanctity-of-life) were more likely for continuation of intensive care. Physicians' educational level (p:0.097), involvement in research (p:0.093), religion (p:0.024) and position on the existing legal framework (p < 0.001) were factors that affected the attitude score. CONCLUSIONS: Physicians presented with varying end-of-life practices. Limiting interventions in neonates with poor prognosis was strongly related to their attitudes. The most important predictors for physicians' attitudes were religiousness and belief for Greek legal system reform.


Assuntos
Médicos , Assistência Terminal , Atitude do Pessoal de Saúde , Morte , Tomada de Decisões , Humanos , Recém-Nascido , Unidades de Terapia Intensiva , Unidades de Terapia Intensiva Neonatal , Qualidade de Vida , Inquéritos e Questionários , Suspensão de Tratamento
15.
Medicina (Kaunas) ; 55(7)2019 Jul 19.
Artigo em Inglês | MEDLINE | ID: mdl-31331098

RESUMO

Mutations in adenosine triphosphate-binding cassette transporter A3 (ABCA3) (OMIM: 601615) gene constitute the most frequent genetic cause of severe neonatal respiratory distress syndrome (RDS) and interstitial lung disease (ILD) in children. Interstitial lung disease in children and especially in infants, in contrast to adults, is more likely to appear as a result of developmental deficits or is characterized by genetic aberrations of pulmonary surfactant homeostasis not responding to exogenous surfactant administration. The underlying ABCA3 gene mutations are commonly thought, regarding null mutations, to determine the clinical course of the disease while there exist mutation types, especially missense variants, whose effects on surfactant proteins are difficult to predict. In addition, clinical and radiological signs overlap with those of surfactant proteins B and C mutations making diagnosis challenging. We demonstrate a case of a one-term newborn male with lethal respiratory failure caused by homozygous missense ABCA3 gene mutation c.3445G>A (p.Asp1149Asn), which, to our knowledge, was not previously reported as a causative agent of newborn lethal RDS. Therapeutic strategies for patients with ABCA3 gene mutations are not sufficiently evidence-based. Therefore, the description of the clinical course and treatment of the disease in terms of a likely correlation between genotype and phenotype is crucial for the development of the optimal clinical approach for affected individuals.


Assuntos
Transportadores de Cassetes de Ligação de ATP/efeitos adversos , Síndrome do Desconforto Respiratório do Recém-Nascido/etiologia , Síndrome do Desconforto Respiratório do Recém-Nascido/genética , Transportadores de Cassetes de Ligação de ATP/genética , Corticosteroides/uso terapêutico , Azitromicina/uso terapêutico , Humanos , Hidroxicloroquina/uso terapêutico , Recém-Nascido , Doenças Pulmonares Intersticiais/genética , Masculino , Mutação/genética , Surfactantes Pulmonares/antagonistas & inibidores , Síndrome do Desconforto Respiratório do Recém-Nascido/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos
16.
Cytogenet Genome Res ; 158(1): 32-37, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30799418

RESUMO

This report describes a newborn girl presenting with some of the common features of DiGeorge syndrome/velocardiofacial syndrome (DGS/VCFS), including hypocalcemia, atrial septal defect, and aortic stenosis. Several genetic tests were carried out to determine the origin of the clinical phenotype. MLPA was initially performed followed by aCGH, cytogenetic analysis, and FISH. Cytogenetic analysis of the proband's parents was also done. MLPA revealed a deletion in 22q11.1q11.2 spanning from the cat eye syndrome region to the most commonly deleted region in DGS/VCFS patients. The size of the deletion as defined by aCGH was 3.2 Mb. The karyotype of the proband was 45,XX,der(1)t(1;22)(p36.3;q11.2)dn,-22, the karyotypes of the parents were normal. FISH analysis showed that the 22q11 deletion occurred in the der(1). No loss or gain of chromosomal material was evident for chromosome 1, as confirmed by MLPA, aCGH, and FISH. Unbalanced translocations resulting in DGS are relatively rare, with limited reports in the literature. To our knowledge, this is the second case involving chromosome 1 and the first one with breakpoints in 1p36 and 22q11.2. This case also emphasizes the importance of combining diagnostic methods to better understand a given genetic abnormality.


Assuntos
Síndrome da Deleção 22q11/genética , Cromossomos Humanos Par 1/genética , Cromossomos Humanos Par 22/genética , Deleção de Sequência , Translocação Genética/genética , Cariótipo Anormal , Cromossomos Humanos Par 1/ultraestrutura , Cromossomos Humanos Par 22/ultraestrutura , Hibridização Genômica Comparativa , Síndrome de DiGeorge/genética , Feminino , Humanos , Hibridização in Situ Fluorescente , Recém-Nascido , Técnicas de Amplificação de Ácido Nucleico , Síndrome
17.
J Pediatr Hematol Oncol ; 41(3): e135-e140, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30601403

RESUMO

BACKGROUND: To date, clinical experience with prothrombin complex concentrate (PCC) in the neonatal population has been limited. AIM: The objective of this study was to describe our experience regarding the effectiveness and safety of PCC administration in newborns with severe bleeding or coagulopathy resistant to conventional therapy. METHODOLOGY: We retrospectively analyzed data from 37 neonates with intractable bleeding or severe coagulation disturbances. All patients received intravenous bolus administration of 20 or 30 u/kg of PCC per dose, as a rescue procedure. RESULTS: Hemostasis was achieved in the majority of neonates and we observed statistically significant improvement in prothrombin time, international normalized ratio, and activated partial thromboplastin time (P<0.001, P=0.044, P<0.001, respectively). Thirteen neonates survived, whereas 24 did not survive. In those who survived, PCC had been administered earlier (<24 h) in the disease process compared with those who died (P=0.043). Neither acute adverse events nor thromboembolic complications were observed in all neonates. CONCLUSIONS: In our study, PCC seemed to be a safe and effective intervention for hemostasis and early intervention was more effective as a rescue therapy, without any adverse event. Further prospective controlled trials are required to determine optimal dose and timing of PCC administration in neonates.


Assuntos
Transtornos da Coagulação Sanguínea/tratamento farmacológico , Fatores de Coagulação Sanguínea/administração & dosagem , Hemorragia/tratamento farmacológico , Tempo para o Tratamento , Transtornos da Coagulação Sanguínea/mortalidade , Fatores de Coagulação Sanguínea/efeitos adversos , Testes de Coagulação Sanguínea , Feminino , Hemorragia/mortalidade , Hemostasia/efeitos dos fármacos , Humanos , Recém-Nascido , Coeficiente Internacional Normatizado , Masculino , Estudos Retrospectivos
18.
Eur J Paediatr Neurol ; 22(4): 602-609, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29571948

RESUMO

Late preterm infants (34-0/7 to 36-6/7 weeks" gestation) account for 10-20% of NICU admissions and are at increased risk for morbidity and mortality. Although they are prone to developmental delays, reports on neurological outcome during the first 2 years of life are scarce. The aim of the study was to assess neurological/neuromotor outcome in high risk late preterm infants at 6 and 12 months corrected age and the change in neurological scores over time, and to identify factors associated with the neurological outcome. The Hammersmith Infant Neurological Examination was performed in a cohort of 157 late preterm infants admitted in the NICU. The infants were examined at 6 and 12 months corrected age respectively and scored with the optimality score system including 26 items assessing cranial nerve function, posture, movements, tone and reflexes. Also parents reported neurological milestones in the follow up visit. Infants at 6 months had a global score of 59 (47-76) and optimal scores achieved in 25.4%. At 12 months they had a global score of 70 (58-78) and achieved optimal scores in 63.2%. The subscores of posture, tone and reflexes gradually increased from 6 to 12 months corrected age. Being born small for gestational age was the only factor that adversely influenced HINE score at 6 and 12 months. At 12 months 58.5% achieved independent walking. High risk late preterm infants have suboptimal HINE scores at 6 and 12 months of age, suggesting a need for closer follow up and early intervention programs.


Assuntos
Deficiências do Desenvolvimento/epidemiologia , Deficiências do Desenvolvimento/etiologia , Recém-Nascido Prematuro/fisiologia , Deficiências do Desenvolvimento/diagnóstico , Feminino , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Recém-Nascido Pequeno para a Idade Gestacional/fisiologia , Masculino , Exame Neurológico , Estudos Prospectivos
19.
BMJ Open ; 8(2): e018766, 2018 02 24.
Artigo em Inglês | MEDLINE | ID: mdl-29478015

RESUMO

OBJECTIVES: The aim of this study is to examine the prevalence, to report barriers and mental health impact of bullying behaviours and to analyse whether psychological support at work could affect victims of bullying in the healthcare workplace. DESIGN: Self-administered questionnaire survey. SETTING: 20 in total neonatal intensive care units in 17 hospitals in Greece. PARTICIPANTS: 398 healthcare professionals (doctors, nurses). MAIN OUTCOME MEASURES: The questionnaire included information on demographic data, Negative Act Questionnaire-Revised (NAQ-R) behaviour scale, data on sources of bullying, perpetrators profile, causal factors, actions taken and reasons for not reporting bullying, psychological support and 12-item General Health Questionnaire (GHQ-12) scores to investigate psychological distress. RESULTS: Prevalence of bullying measured by the NAQ-R was 53.1% for doctors and 53.6% for nurses. Victims of bullying differed from non-bullied in terms of gender and job experience, among demographic data. Crude NAQ-R score was found higher for female, young and inexperienced employees. Of those respondents who experienced bullying 44.9% self-labelled themselves as victims. Witnessing bullying of others was found 83.2%. Perpetrators were mainly females 45-64 years old, most likely being a supervisor/senior colleague. Common reasons for not reporting bullying was self-dealing and fear of consequences. Bullying was attributed to personality trait and management. Those who were bullied, self-labelled as a victim and witnessed bullying of others had higher GHQ-12 score. Moreover, psychological support at work had a favour effect on victims of bullying. CONCLUSIONS: Prevalence of bullying and witnessing were found extremely high, while half of victims did not consider themselves as sufferers. The mental health impact on victims and witnesses was severe and support at work was necessary to ensure good mental health status among employees.


Assuntos
Bullying/estatística & dados numéricos , Pessoal de Saúde/estatística & dados numéricos , Unidades de Terapia Intensiva Neonatal , Saúde Mental , Estresse Ocupacional/epidemiologia , Local de Trabalho/psicologia , Adulto , Distribuição por Idade , Feminino , Grécia/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Escalas de Graduação Psiquiátrica , Distribuição por Sexo , Inquéritos e Questionários
20.
J Pediatr Hematol Oncol ; 38(7): 533-538, 2016 10.
Artigo em Inglês | MEDLINE | ID: mdl-27849673

RESUMO

Intraventricular hemorrhage (IVH) is a multifactorial disorder, the most important risk factors of which are prematurity and low birth weight. Disturbances in cerebral blood flow, inherent fragility of the germinal matrix vasculature, and platelet/coagulation disturbances are the 3 major pathogenic mechanisms. In this context, we investigated the role of platelet indices and several maternal and neonatal characteristics in the development of IVH through a retrospective cohort analysis of 130 extremely premature neonates, 24% of whom presented with severe IVH. There was a significant difference in platelet counts between the IVH and the control group on the first day of life (P=0.046). Presence of IVH was linked with lower birth weight (P=0.006) and lower gestational age (P=0.001). Platelet count on the first day of life was positively correlated with survival (P=0.001) and, along with platelet mass, was indicative of the worst IVH grade recorded for each neonate (P=0.002 and 0.007, respectively). Prolonged prothrombin time was also correlated with IVH (P<0.001), but factor analysis supported no prominent role. Maternal medications seem to play a minor role as well. In conclusion, IVH in extremely premature infants cannot be solely explained by platelet parameters, and further studies are required to determine the relationships between IVH, platelet indices, and outcomes.


Assuntos
Hemorragia Cerebral/etiologia , Lactente Extremamente Prematuro/sangue , Peso ao Nascer , Hemorragia Cerebral/sangue , Circulação Cerebrovascular , Estudos de Coortes , Permeabilidade do Canal Arterial/complicações , Idade Gestacional , Ventrículos do Coração , Humanos , Recém-Nascido , Volume Plaquetário Médio , Contagem de Plaquetas , Estudos Retrospectivos
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