RESUMO
AIM: The full blood count (FBC) is commonly measured as part of a partial septic work-up in asymptomatic infants at increased risk of early-onset neonatal sepsis (EOS). To determine the impact of FBC parameters on infants' subsequent management a retrospective cross-sectional study was performed. METHODS: Infants, born at ≥34 weeks gestation, asymptomatic at birth, undergoing a partial septic work-up and receiving prophylactic antibiotics due to increased risk of EOS in a single centre over a 2-year period, were included. The primary outcome measure was frequency of FBC result impacting on duration of antibiotic therapy. Secondary outcome measures included frequency of FBC parameters outside of the reference range and incidental diagnoses. RESULTS: In total, 16 726 live-born infants were delivered during the study period. A total of 802 (4.8%) were included. Thirteen infants (1.6%) received a prolonged course of antibiotics due to suspicion for EOS. Two of these infants had elevated white cell counts. All had normal neutrophil counts. In no case did the FBC result influence the decision to prolong the antibiotic course. CONCLUSION: In a cohort of 802 infants, asymptomatic at birth and at increased risk of EOS, the FBC result did not impact on the decision to prolong the course of antibiotics for suspicion of EOS.
Assuntos
Sepse Neonatal , Sepse , Recém-Nascido , Humanos , Lactente , Estudos Transversais , Estudos Retrospectivos , Sepse Neonatal/diagnóstico , Sepse Neonatal/tratamento farmacológico , Antibacterianos/uso terapêutico , Fatores de RiscoRESUMO
Inborn errors of metabolism are an individually rare but collectively significant cause of mortality and morbidity in the neonatal period. They are identified by either newborn screening programmes or clinician-initiated targeted biochemical screening. This study examines the relative contribution of these two methods to the identification of inborn errors of metabolism and describes the incidence of these conditions in a large, tertiary, neonatal unit. We also examined which factors could impact the reliability of metabolic testing in this cohort. This is a retrospective, single-site study examining infants in whom a targeted metabolic investigation was performed from January 2018 to December 2020 inclusive. Data was also provided by the national newborn screening laboratory regarding newborn screening diagnoses. Two hundred and four newborns received a clinician-initiated metabolic screen during the time period examined with 5 newborns being diagnosed with an inborn error of metabolism (IEM) (2.4%). Of the 25,240 infants born in the hospital during the period examined, a further 11 newborns had an inborn error of metabolism diagnosed on newborn screening. This produced an incidence in our unit over the time described of 6.34 per 10,000 births. This number reflects a minimum estimate, given that the conditions diagnosed refer to early-onset disorders and distinctive categories of IEM only. Efficiency of the clinician-initiated metabolic screening process was also examined. The only statistically significant variable in requiring repeat metabolic screening was early day of life (z-score = - 2.58, p = 0.0098). A total of 28.4% was missing one of three key metabolic investigation parameters of blood glucose, ammonia or lactate concentration with ammonia the most common investigation missing. While hypoglycemia was the most common clinical rationale for a clinician-initiated metabolic test, it was a poor predictor of inborn error of metabolism with no newborns of 25 screened were diagnosed with a metabolic disorder. CONCLUSION: Clinician-targeted metabolic screening had a high diagnostic yield given the relatively low prevalence of inborn errors of metabolism in the general population. Thoughts should be given to the rationale behind each targeted metabolic test and what specific metabolic disease or category of inborn error of metabolism they are concerned along with commencing targeted testing. WHAT IS KNOWN: ⢠Inborn errors of metabolism are a rare but potentially treatable cause of newborn mortality and morbidity. ⢠A previous study conducted in a tertiary unit in an area with limited newborn screening demonstrated a diagnostic yield of 5.4%. WHAT IS NEW: ⢠Clinician-initiated targeted metabolic screening has a good diagnostic performance even with a more expanded newborn screening programme. ⢠Further optimisation could be achieved by examining the best timing and also the rationale of metabolic testing in the newborn period.
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Doenças Metabólicas , Erros Inatos do Metabolismo , Amônia , Glicemia , Humanos , Lactente , Recém-Nascido , Lactatos , Erros Inatos do Metabolismo/diagnóstico , Erros Inatos do Metabolismo/epidemiologia , Triagem Neonatal/métodos , Reprodutibilidade dos Testes , Estudos RetrospectivosRESUMO
BACKGROUND: The prevalence of cow's-milk protein allergy (CMPA) is between 2% and 3% and symptoms vary depending on underlying immune mechanism at play. Breast milk is the optimal nutrition for premature infants and breast milk fortifiers (BMF) are commonly used to optimise growth and nutrition. BMF are typically derived from cow's milk and, as such, preterm infants are exposed to cow's milk in the first weeks of life. Previously, preterm infants were suspected to have a higher risk of allergen development because of early antigen exposure and increased gut permeability. The primary aim of the present study was to evaluate the prevalence of CMPA among very preterm (<32 weeks) and/or very low birth weight (VLBW) infants. The secondary aim was to describe feeding practices, specifically the breastfeeding rates and specialist, non-standard formula use in this cohort over the first 6 months of life. METHODS: This was a retrospective study performed in a large tertiary maternity hospital (8500 deliveries/year and 110 very preterm infants/year) in Dublin, Ireland over a 3-year period, 2017-2020. Infants born very preterm and/or VLBW who were followed in the outpatient clinic until 6 months corrected gestational age (CGA) were included. Hospital ethical approval was obtained. RESULTS: One hundred and forty-four infants were included with a median birth weight of 1338 g. No infant had a diagnosis of CMPA when leaving the neonatal intensive care unit (NICU) but, by 6 months CGA, this increased to 1.4% (n = 2). Upon discharge from the NICU, 88 infants (61%) were receiving at least some breast milk, decreasing to 13 (9.1%) at 6 months CGA. Those who were receiving exclusive breast milk at discharge were significantly more likely to still be receiving any breast milk at three (p ≤ 0.001) and 6 months ( p ≤ 0.001) CGA compared to those combined feeding or exclusively formula feeding. At 6 months CGA, 18.9% (n = 27) were attending a dietician and 31.5% (n = 45) were using specialist, non-standard infant formula. CONCLUSIONS: The prevalence of CMPA in this cohort was 1.4%, which is similar to the reported prevalence of CMPA in the general paediatric population. Infants who were discharged from NICU exclusively breastfeeding were more likely to be receiving any breast milk at outpatient follow-up. This highlights the importance of on going dietetic and lactation support in the outpatient setting for this vulnerable cohort.
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Hipersensibilidade a Leite , Alérgenos , Animais , Aleitamento Materno , Bovinos , Criança , Feminino , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Hipersensibilidade a Leite/epidemiologia , Leite Humano , Gravidez , Prevalência , Estudos RetrospectivosRESUMO
A male infant born in a tertiary maternity facility was noted to have microretrognathia, a small mouth and macroglossia at delivery. He was born limp and apnoeic and required multiple attempts at intubation before a definitive airway was eventually sited. Chest X-rays, while in the paediatric intensive care unit, demonstrated dysplastic ribs with associated 'high-riding' clavicles. A later X-ray was reported as showing interrupted posterior ribs. A tracheostomy was formed on day of life 9 given the immediate risk to the baby's airway. Further imaging of the facial bones, skull and brain showed generous CSF spaces over the cerebral convexities and also marked hypoplasia of the mandible and mid-face. The baby's middle ear cavities were shown to be completely opacified. Genetic testing eventually went on to confirm a diagnosis of cerebrocostomandibular syndrome, with the detection of a pathogenic variant of the small nuclear ribonucleoprotein polypeptide B gene.
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Anormalidades Múltiplas , Humanos , Masculino , Recém-Nascido , Anormalidades Múltiplas/diagnóstico , Síndrome , Diagnóstico Diferencial , TraqueostomiaRESUMO
Aplasia cutis congenita (ACC) is one of several congenital malformations associated with antithyroid/thiourylene drug use in pregnancy. While uncommon among the general population (1-3/100 000 cases), the risk among those on thiourylenes is between 1.6% and 3%. The scalp is the most common site for this congenital anomaly. We present the case of a male infant with multifocal ACC of the scalp discovered at birth and born to a mother with Graves disease that was controlled during pregnancy using carbimazole. Thyroid function tests were normal throughout the pregnancy. There was no involvement of underlying subcutaneous tissue or structures. At age 18 months, the single largest lesion remained with only partial coverage. Prospective management involved periodic surveillance with planned 2-stage repair. This case reinforces the association between the antithyroid drugs carbimazole (CMZ) and methimazole (MMI) and supports the proposition of an MMI/CMZ embryopathy. It adds to a literature of case reports in which malformations arise in offspring of such mothers whose thyrotoxicosis is controlled antenatally, thereby challenging the suggestion that ACC is attributable to poorly controlled disease rather than thiourylenes. As yet the underlying mechanism is not understood, nor is it known why MMI and CMZ may cause potentially significant embryopathy while congenital defects attributable to the structurally similar propylthiouracil are typically less severe.
RESUMO
A near-term infant became unwell immediately after birth with cardiorespiratory compromise-persistent tachycardia, pulmonary hypertension and reduced cardiac function. There had been no concerns during the pregnancy and the obstetrical and maternal medical history was unremarkable apart from hypothyroidism. A thyroid function test on admission revealed a significantly elevated free T4 and a diagnosis of a thyroid storm was made. On questioning it became apparent that she had Graves' disease after her last pregnancy and was rendered hypothyroid post surgery, she was not aware of the relevance of this at her booking visit. This case highlights the importance of monitoring of women who have a history of a diagnosis of Graves' disease, regardless of thyroid function status, to allow for appropriate antenatal monitoring, preparedness of the NICU (neonatal intensive care unit) team and correct follow-up of the neonate. It also demonstrates the importance of ensuring a patient is properly educated about their condition.
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Doença de Graves/diagnóstico , Complicações na Gravidez/diagnóstico , Crise Tireóidea/diagnóstico , Crise Tireóidea/terapia , Adulto , Feminino , Doença de Graves/complicações , Doença de Graves/terapia , Humanos , Recém-Nascido , Masculino , Gravidez , Complicações na Gravidez/terapia , Cuidado Pré-Natal , Crise Tireóidea/etiologiaRESUMO
Ichthyosis prematurity syndrome (IPS) is a rare disorder of autosomal recessive inheritance. The cardinal features include prematurity, vernix like hyperkeratosis, eosinophilia and neonatal asphyxiation. This case report discusses the presentation and management of IPS. We aim to characterise the common features, the spectrum of disease within a single family and discuss a potential role for low-dose dexamethasone in the management of ventilator-dependent patients with IPS.
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Ictiose , Doenças do Prematuro , Ceratose , Dexametasona/uso terapêutico , Humanos , Recém-Nascido , Doenças do Prematuro/tratamento farmacológicoRESUMO
A neonate, born at 24 weeks, underwent a patent ductus arteriosus ligation, with previous normal thyroid stimulating hormone (TSH) levels, developed severe hypothyroidism from topical exposure to iodine following a single surgical procedure at 28 days of life. A low free T4 level of 0.05 ng/dL and a high TSH level of 228 mIU/L was detected with an increased urinary iodine excretion level of 178 mg/L (reference range 0.30-1.97 mg/L). The thyroid ultrasound was normal. Levothyroxine was started immediately but thyroid function did not recover fully during admission and levothyroxine was required beyond term corrected. This case highlighted how susceptible extremely preterm infants are to iodine induced hypothyroidism, even short-term topical exposure. Delayed treatment of hypothyroidism can lead to profound neurodevelopmental delay. As surgical advances allow for interventions at earlier gestations, the importance of early thyroid function testing postexposure to iodine is highlighted and ultimately topical iodine should be avoided in these susceptible infants.
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Hipotireoidismo , Iodo , Humanos , Hipotireoidismo/induzido quimicamente , Hipotireoidismo/tratamento farmacológico , Lactente , Recém-Nascido , Iodetos , Iodo/efeitos adversos , Testes de Função Tireóidea , Tireotropina , TiroxinaRESUMO
AIM: The neonatal intensive care unit can be a stressful environment for parents. The Beads of Courage program is an arts-in-medicine, psychosocial intervention, designed to strengthen and support children and families who are coping with serious or life-threatening illness. We hypothesised that the program would improve the parent experience in the neonatal unit. METHODS: Infants less than 32 weeks' gestation were eligible for enrolment on the program. The study was conducted from 2016 to 2018. A 13 point questionnaire was sent to participating parents post discharge from the unit including a combination of Likert scale and open-ended questions. RESULTS: During the study period 123 infants were enrolled. Mean gestational age was 27.7(±2.2) weeks and median length of stay was 49 days (lower quartile 34; upper quartile 76). All respondents rated the program as "helpful and enjoyable" with 72.5% rating it "extremely helpful and enjoyable", 85% felt the program made their stay in the neonatal unit easier. CONCLUSION: The Beads of Courage program was found to be an extremely popular initiative for parents in a neonatal unit setting and was found to be a useful adjunct to communication and inclusion of parents in the care of their infants. SUMMARY: The Beads of Courage program in a NICU setting was found to be very helpful for parents in improving awareness of procedures and understanding overall care of their infants. Parents felt their journey was made easier with the additional engagement and communication with being in the program.
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Coragem , Unidades de Terapia Intensiva Neonatal , Assistência ao Convalescente , Criança , Humanos , Lactente , Recém-Nascido , Pais/psicologia , Alta do PacienteRESUMO
Crouzon syndrome is the most common cause of syndromic craniosynostosis. The authors present a previously unreported association between Crouzon syndrome and optic nerve hypoplasia. A male infant was transferred to the center for treatment of respiratory distress. He was diagnosed as having dysmorphic features, a membranous choanal stenossi bilaterally, and bilateral optic nerve hypoplasia. Genetic testing confirmed a molecular diagnosis of Crouzon syndrome. He had a complicated course in relation to choanal stenosis management, and was discharged home at 10 weeks of age. Although uncommon in Crouzon syndrome, the association with optic nerve hypoplasia changes the initial work-up and the management of parental expectations. [J Pediatr Ophthalmol Strabismus. 2018;55:e45-e48.].
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Disostose Craniofacial/complicações , Anormalidades do Olho/etiologia , Nervo Óptico/anormalidades , Disostose Craniofacial/diagnóstico por imagem , Anormalidades do Olho/diagnóstico por imagem , Idade Gestacional , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Tomografia Computadorizada por Raios XRESUMO
Pai Syndrome is a rare congenital malformation syndrome of unknown cause with hypertelorism, midline cleft lip, nasal and facial polyps, ocular anomalies and the presence of distinctive lipomas adjacent to the corpus callosum. Herein, we present an infant girl with Pai Syndrome diagnosed in the first week of life with typical facial findings and associated pericallosal lipoma identified on cranial ultrasound and brain MRI. These typical features identified included median cleft of the upper lip (in her case as a forme fruste) with a cleft alveolus and a mid-anterior alveolar process congenital polyp. In addition to these findings there was mild hypertelorism and an ocular abnormality on the right eye. An ophthalmology assessment on day 5 identified the ocular lesion as a limbal dermoid. Several ocular anomalies have been reported in association with Pai Syndrome, however, dermoids have not been frequently described in this Syndrome and not before in a limbal location. Increasing identification of previously unreported ocular abnormalities in Pai Syndrome may improve diagnosis and may prove useful in future work attempting to elucidate the aetiology of this rare syndrome.
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Agenesia do Corpo Caloso/diagnóstico , Fenda Labial/diagnóstico , Coloboma/diagnóstico , Lipoma/diagnóstico , Pólipos Nasais/diagnóstico , Dermatopatias/diagnóstico , Agenesia do Corpo Caloso/complicações , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Fenda Labial/complicações , Coloboma/complicações , Cisto Dermoide/complicações , Cisto Dermoide/diagnóstico , Feminino , Humanos , Recém-Nascido , Lipoma/complicações , Imageamento por Ressonância Magnética , Pólipos Nasais/complicações , Oftalmologia , Dermatopatias/complicações , UltrassonografiaRESUMO
Twenty-eight-week-old preterm monochorionic-diamniotic twins were admitted to the neonatal intensive care unit secondary to low birth weight and mild respiratory distress syndrome. A low fibrinogen level of less than 0.5 g/L was detected following an abnormal full blood count. They required fibrinogen transfusions until 32 weeks corrected gestation to maintain adequate fibrinogen levels. Parental screening revealed that their mother had a previously undiagnosed hypofibrinogenaemia. Of note, her only symptom was menorrhagia. This may have implications on further pregnancies as it can be associated with spontaneous miscarriage and post-partum haemorrhage. Congenital hypofibrinogenaemia is a rare disorder and there are no reported cases from Ireland. A higher degree of suspicion for screening is required to detect new cases and demonstrates the benefits of checking parental levels in such situations.