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BACKGROUND: Transient tachypnea of the newborn (TTN), which is the most common respiratory disease in the neonatal period, increases respiratory workload in newborns. We purposed to evaluate the oxidative stress (OS) status and thiol disulfide hemostasis in late preterm and term newborns with TTN in this study. METHODS: The study was carried out in a single-centre neonatal intensive care unit to investigate the effect of continuous airway positive pressure (CPAP) on the oxidative system in newborns with TTN. Thiol (native and total) and disulfide levels, total antioxidant and oxidant status (TAS/TOS) and Oxidative stress index (OSI) levels were measured. RESULTS: Total thiol levels measured before treatment was 429.5 (369.5-487) µmol/L in the late preterm group and 425 (370-475) µmol/L in the term group (p = 0.741). We found significant changes in TOS, OSI and TAS levels after CPAP treatment in the late preterm group (p < 0.001, p < 0.001, p = 0.012 respectively). It was also found that the disulfide level, which was 26.2 (19.2-31.7) before the treatment, decreased to 19.5 (15.5-28.75) after the treatment (p = 0.001) in late preterms. CONCLUSION: CPAP treatment reduced the OS status burden associated with TTN in neonates. The late preterm newborns with TTN are more affected by OS and increased OS levels decrease with CPAP treatment.
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Nacimiento Prematuro , Taquipnea Transitoria del Recién Nacido , Femenino , Humanos , Recién Nacido , Lactante , Taquipnea Transitoria del Recién Nacido/terapia , Disulfuros , Compuestos de Sulfhidrilo , Antioxidantes , Estrés OxidativoRESUMEN
BACKGROUND: Limited research has focused explicitly on the association between neonatal jaundice and autism spectrum disorder (ASD), and inconclusive evidence exists in the literature within this framework. This study aimed specifically to investigate whether neonatal jaundice is a potential risk factor for ASD and whether there is a connection between the types of neonatal jaundice and the severity of ASD. METHODS: This study involved 119 children with ASD [90 males (75.6%), 29 females (24.4%), mean age: 45.39 ± 11.29 months] and 133 healthy controls [100 males (75.2%), 33 females (24.8%), mean age: 46.92 ± 11.42 months]. Psychiatric disorders were diagnosed through the Diagnostic and Statistical Manual of Mental Disorders criteria. Childhood Autism Rating Scale (CARS) was used to assess the screening and diagnosis of autism. A specially prepared personal information sheet was employed to investigate sociodemographic characteristics and birth and clinical histories. RESULTS: The rate of the history of jaundice and pathological jaundice requiring hospitalization and phototherapy were significantly higher in the ASD group compared to the controls. CARS total score and the mean scores of nearly all items were statistically higher in children with a history of pathological jaundice than those with a history of physiological jaundice. DISCUSSION: Neonatal jaundice, depends on its severity, seems to be one of the possible biological factors associated with subsequent development of and the severity of ASD. Establishing a causal relationship between neonatal jaundice and ASD by more comprehensive studies may contribute to alleviating of the severity of ASD for individuals at risk.
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Trastorno del Espectro Autista , Trastorno Autístico , Ictericia Neonatal , Niño , Femenino , Masculino , Recién Nacido , Humanos , Preescolar , Ictericia Neonatal/complicaciones , Ictericia Neonatal/epidemiología , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/epidemiología , Hospitalización , FototerapiaRESUMEN
Background/aim: Most inborn metabolic diseases are diagnosed during the neonatal period. The accumulation of toxic metabolites may cause acute metabolic crisis with long-term neurological dysfunction and death. Renal replacement therapy (RRT) modalities allow the efficient removal of toxic metabolites. In this study, we reviewed our experience with continuous venovenous hemodiafiltration (CVVHDF) as RRT for newborns with an inborn metabolic disease. Materials and methods: Patients diagnosed with an inborn metabolic disease and who received CVVHDF treatment at our neonatal intensive care unit between January 2014 and December 2017 were included in this study. Their demographic and clinical data were collected, and the efficacy and safety of CVVHDF was evaluated. Results: A total of nine continuous RRT (CRRT) sessions as CVVHDF were performed in eight newborns with a diagnosis of urea cycle defect (n = 5), maple syrup urine disease (n = 2), or methylmalonic acidemia (n = 1). The mean age at admission was 10 ± 8.6 days (range: 328 days). The mean plasma levels of ammonium were 1120 ± 512.6 mg/dL and 227.5 ± 141.6 mg/dL before and at the end of the treatment, respectively. Plasma levels of leucine were 2053.5 ± 1282 µmol/L and 473.5 ± 7.8 µmol/L before and at the end of the treatment, respectively. The CVVHDF duration was 32.3 ± 11.1 h (median: 37 h; range: 1644 h), and the mean length of hospitalization was 14.6 ± 12.9 days. The mean duration of CVVHDF was 32.3 ± 11.1 h (range: 1644 h). Circuit clotting was the most common observed complication (37.5%) and the survival rate was 50%. Among surviving patients, two developed severe and two developed mild mental and motor retardation. Conclusion: CVVHDF is a CRRT modality that can be used to treat newborns with an inborn metabolic disease. Early diagnosis, commencement of specific medical therapy, diet, and extracorporeal support, if needed, are likely to result in improved short and long- term outcomes.
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Terapia de Reemplazo Renal Continuo/métodos , Errores Innatos del Metabolismo/terapia , Femenino , Humanos , Recién Nacido , MasculinoRESUMEN
Objectives: The aims of this study were to evaluate the demographic characteristics, risk factors, mortality rates, and laboratory findings of infants with fungal sepsis in the Neonatal Intensive Care Unit (NICU). Methods: This retrospective multicenter study included patients in NICU with Candida spp isolated in blood cultures between November 01, 2019, and September 01, 2022. The patients were evaluated in two groups as Group 1 infants with Candida albicans and Group 2 infants with Candida non-albicans positive blood cultures. Results: Candida infection was detected in blood cultures in 57 of 3450 patients admitted to the NICU. A total of 57 infants included in the study. Candida infection was determined 1.6% of infants in the study population, and 57% of them were extremely pre-term infants. There was no significant difference between the two groups in terms of laboratory data. Normal vaginal birth was determined at a higher rate in Group 1. In Group 2, length of hospital stay, duration of total parenteral nutrition (TPN), and mechanical ventilation (MV) were determined to be longer. The mortality due to Candida fungemia was determined as 35%, and of these patients, 65% had an additional medical condition. Conclusion: In accordance with the literature, this study showed that prolonged MV and longer TPN increased the incidence of fungal sepsis. Therefore, to decrease the fungal sepsis rate of NICU, shortening the hospital stay and effective screening programs are recommended.
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PURPOSE: The aim of this study is to evaluate both dynamic thiol-disulfide homeostasis and oxidative stress (OS) levels in patients with retinopathy of prematurity (ROP). METHODS: A total of 129 infants of <34 weeks gestational age were enrolled in the present study. The thiol-disulfide homeostasis was determined by using the new, cost-effective and fully automated colorimetric method. Total antioxidant status (TAS), Total oxidant status (TOS) and Oxidative stress index (OSI) levels were evaluated. RESULTS: We found serum TAS levels were lower while serum TOS and OSI levels were significantly higher in patients with ROP compare to the without ROP group (p < .05). However, native, total and disulfide values were not statistically significant between the groups (p > .05). In addition, we also evaluated the native, total and disulfide levels in patients with ROP according to grades and no statistically significant results were found (p > .05). Low birth weight (p = .001), gestational age (p = .001) and 5-min Apgar score were significantly lower in the ROP group. CONCLUSION: This study revealed that dynamic thiol-disulfide homeostasis was changed in patients with ROP. Increased TOS and decreased TAS levels may be associated with functional reduction of the antioxidant system due to increased OS. This indicate that ROP patients are highly sensitive to OS. The dynamic thiol-disulfide homeostasis may conduce to the pathophysiological mechanism and disease follow-up in patients with ROP. The results of this study show that ROP patients are highly sensitive to oxidative stress.
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OBJECTIVE: The aim of this study was to assess the oxidative stress (OS) levels and dynamic thiol-disulfide balance in preterm newborns with bronchopulmonary dysplasia (BPD). METHODS: This prospective study included newborns separated into 2 groups, those with BPD (case) or without BPD (control). The 2 groups were compared by clinical and laboratory findings. The OS parameters total oxidant status (TOS), total antioxidant status (TAS), OS index (OSI), native thiol (NT), and total thiol were measured within the first day after birth. Oxygen requirements were measured using the fraction of inspired oxygen (FIO2) recorded in the first hour after birth/admission and the average FIO2 within 28 days of the birth. RESULTS: Infants diagnosed with BPD had a significantly lower gestational age and birth weight and a lower 5-min Apgar score (P < .05). Infants with BPD also had a higher rate of respiratory distress syndrome, rate of use of surfactant therapy, duration of ventilation therapy, and duration of hospital stay compared with control (P = .001, P = .001, P = .001, and P = .001, respectively). Plasma TAS and NT levels of newborns with BPD were significantly lower than newborns without BPD (P < .05). In the BPD group, plasma TOS and OSI levels were significantly higher than in the control group. CONCLUSION: We found that OS was increased in newborns with BPD. The clinical significance of this study will provide the clinician with a different perspective on BPD by determining the dynamic thiol disulfide balance.
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Displasia Broncopulmonar , Lactante , Recién Nacido , Humanos , Displasia Broncopulmonar/epidemiología , Displasia Broncopulmonar/diagnóstico , Estudios Prospectivos , Disulfuros , Compuestos de Sulfhidrilo , Edad Gestacional , Estrés Oxidativo , OxígenoRESUMEN
BACKGROUND: Hypoxic ischemic encephalopathy (HIE) is a significant cause of mortality and short- and long-term morbidities. Therapeutic hypothermia (TH) has been shown to be the standard care for HIE of infants ≥36 weeks gestational age (GA), as it has been demonstrated to reduce the rates of mortality, and adverse neurodevelopmental outcomes. This study aims to determine the incidence of HIE in our country, to assess the TH management in infants with HIE, and present short-term outcomes of these infants. METHODS: The Turkish Hypoxic Ischemic Encephalopathy Online Registry database was established for this multicenter, prospective, observational, nationally-based cohort study to evaluate the data of infants born at ≥34 weeks GA who displayed evidence of neonatal encephalopathy (NE) between March, 2020 and April 2022. RESULTS: The incidence of HIE among infants born at ≥36 weeks GA (n = 965) was 2.13 per 1000 live births (517:242440), and accounting for 1.55% (965:62062) of all neonatal intensive care unit admissions. The rates of mild, moderate and severe HIE were 25.5% (n = 246), 58.9% (n = 568), and 15.6% (n = 151), respectively. Infants with severe HIE had higher rates of abnormal magnetic resonance imaging (MRI) findings, and mortality (p<0.001). No significant difference in mortality and abnormal MRI results was found according to the time of TH initiation (<3 h, 3-6 h and >6 h) (p>0.05). TH was administered to 85 (34.5%) infants with mild HIE, and of those born of 34-35 weeks of GA, 67.4% (n = 31) received TH. A total of 58 (6%) deaths were reported with a higher mortality rate in infants born at 34-35 weeks of GA (OR 3.941, 95% Cl 1.446-10.7422, p = 0.007). CONCLUSION: The incidence of HIE remained similar over time with a reduction in mortality rate. The timing of TH initiation, whether <3 or 3-6 h, did not result in lower occurrences of brain lesions on MRI or mortality. An increasing number of infants with mild HIE and late preterm infants with HIE are receiving TH; however, the indications for TH require further clarification. Longer follow-up studies are necessary for this vulnerable population.
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Hipotermia Inducida , Hipoxia-Isquemia Encefálica , Lactante , Humanos , Recién Nacido , Estudios de Cohortes , Hipoxia-Isquemia Encefálica/epidemiología , Hipoxia-Isquemia Encefálica/terapia , Estudios Prospectivos , Recien Nacido Prematuro , Hipotermia Inducida/métodos , Sistema de RegistrosRESUMEN
OBJECTIVE: Optimal care in the delivery room is important to decrease neonatal morbidity and mortality. We aimed to evaluate neonatal resuscitation practices in Turkish centers. MATERIALS AND METHODS: A cross-sectional survey consisted of a 91-item questionnaire focused on delivery room practices in neonatal resuscitation and was sent to 50 Turkish centers. Hospitals with <2500 and those with ≥2500 births/year were compared. RESULTS: In 2018, approximately 240 000 births occurred at participating hospitals with a median of 2630 births/year. Participating hospitals were able to provide nasal continuous-positiveairway-pressure/high-flow nasal cannula, mechanical ventilation, high-frequency oscillatory ventilation, inhaled nitric oxide, and therapeutic hypothermia similarly. Antenatal counseling was routinely performed on parents at 56% of all centers. A resuscitation team was present at 72% of deliveries. Umbilical cord management for both term and preterm infants was similar between centers. The rate of delayed cord clamping was approximately 60% in term and late preterm infants. Thermal management for preterm infants (<32 weeks) was similar. Hospitals had appropriate equipment with similar rates of interventions and management, except conti nuous-positive-airway-pressure and positive-end-expiratory-pressure levels (cmH2O) used in preterm infants (P = .021, and P = .032). Ethical and educational aspects were also similar. CONCLUSIONS: This survey provided information on neonatal resuscitation practices in a sample of hospitals from all regions of Turkey and allowed us to see weaknesses in some fields. Although adherence to the guidelines was high among centers, further implementations are required in the areas of antenatal counseling, cord management, and circulation assessment in the delivery room.
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Splenic rupture is a rare and severe condition in neonates. The signs and symptoms are vague and non-specific and are often not recognised before the onset of hypovolaemic shock or death. A 2-day-old infant presented with scrotal ecchymosis, and ultrasonography detected haemorrhage in the scrotal, right inguinal and adrenal regions. Computed tomography demonstrated a peri-splenic haematoma. Haemoglobin (Hb) was 2.79 g/dL and, despite repeated transfusions, the Hb level could not be sustained. Exploratory laparotomy detected a large haematoma in the splenic region, and, because of the uncontrolled haemorrhage, splenectomy was required.
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Equimosis , Rotura del Bazo , Equimosis/complicaciones , Hemorragia Gastrointestinal , Hematoma/complicaciones , Hematoma/diagnóstico por imagen , Humanos , Lactante , Recién Nacido , Esplenectomía/efectos adversos , Rotura del Bazo/diagnóstico por imagen , Rotura del Bazo/cirugíaRESUMEN
The genetic cause of 46, XY disorder of sex development (DSD) still cannot be determined in about half of the cases. GATA-4 haploinsufficiency is one of the rare causes of DSD in genetic males (46, XY). Twenty-two cases with 46, XY DSD due to GATA-4 haploinsufficiency (nine missense variant, two copy number variation) have been previously reported. In these cases, the phenotype may range from a mild undervirilization to complete female external genitalia. The haploinsufficiency may be caused by a sequence variant or copy number variation (8p23 deletion). The aim of this study was to present two unrelated patients with DSD due to GATA-4 variants and to review the phenotypic and genotypic characteristics of DSD cases related to GATA-4 deficiency.
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Trastorno del Desarrollo Sexual 46,XY , Factor de Transcripción GATA4 , Femenino , Humanos , Masculino , Trastorno del Desarrollo Sexual 46,XY/genética , Variaciones en el Número de Copia de ADN , Genotipo , Fenotipo , Desarrollo SexualRESUMEN
Systemic pseudohypoaldosteronism (PHA) is a rare, salt-wasting syndrome that is caused by inactivating variants in genes encoding epithelial sodium channel subunits. Hyponatremia, hyperkalemia, metabolic acidosis, increased aldosterone and renin levels are expected findings in PHA. Clinical management is challenging due to high dose oral replacement therapy. Furthermore, patients with systemic PHA require life-long therapy. Here we report a patient with systemic PHA due to SCNN1B variant whose hyponatremia and hyperkalemia was detected at the 24th hour of life. Hyperkalemia did not improve with conventional treatments and dialysis was required. He also developed myocarditis and hypertension in follow-up. Challenges for diagnosis and treatment in this patient are discussed herein. In addition, published evidence concerning common features of patients with SCNN1B variant are reviewed.
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Canales Epiteliales de Sodio/genética , Seudohipoaldosteronismo/diagnóstico , Seudohipoaldosteronismo/genética , Seudohipoaldosteronismo/terapia , Humanos , Lactante , MasculinoRESUMEN
Objective: Late neonatal hypocalcemia (LNH) is a common metabolic problem associated with hypoparathyroidism, high phosphate intake and vitamin D deficiency, often presenting with seizures. In this cross-sectional study, we aimed to evaluate the role of vitamin D deficiency in LNH in Turkey and to describe the characteristics of affected newborns. Methods: Conducted with a cross-sectional design and with the participation of 61 neonatal centers from December 2015 to December 2016, the study included term neonates with LNH (n=96) and their mothers (n=93). Data were registered on the FAVOR Web Registry System. Serum samples of newborns and mothers were analyzed for calcium, phosphate, magnesium, albumin, alkaline phosphatase, intact parathyroid hormone (iPTH) and 25 hydroxyvitamin D [25(OH)D] levels. Results: The median (range) onset time of hypocalcemia was 5.0 (4.0-8.0) days of age, with a male preponderance (60.4%). The median (range) serum 25(OH)D levels of the neonates and their mothers were 6.3 (4.1-9.05) and 5.2 (4.7-8.8) ng/mL, respectively. The prevalence of vitamin D deficiency (<12 ng/mL) was high in both the neonates (86.5%) and mothers (93%). Serum 25(OH)D levels of the infants and mothers showed a strong correlation (p<0.001). While the majority (93.7%) of the neonates had normal/high phosphorus levels, iPTH levels were low or inappropriately normal in 54.2% of the patients. Conclusion: Vitamin D deficiency prevalence was found to be high in LNH. Efforts to provide vitamin D supplementation during pregnancy should be encouraged. Evaluation of vitamin D status should be included in the workup of LNH.
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Hipocalcemia/epidemiología , Enfermedades del Recién Nacido/epidemiología , Deficiencia de Vitamina D/epidemiología , Estudios Transversales , Femenino , Humanos , Recién Nacido , Masculino , Prevalencia , Turquía/epidemiologíaRESUMEN
BACKGROUND: To achieve gas exchange goals and mitigate lung injury, infants who fail with conventional ventilation (CV) are generally switched to high-frequency oscillatory ventilation (HFOV). Although preferred in many neonatal intensive care units (NICUs), research on this type of rescue HFOV has not been reported recently. METHODS: An online registry database for a multicenter, prospective study was set to evaluate factors affecting the response of newborn infants to rescue HFOV treatment. The study population consisted of 372 infants with CV failure after at least 4 hours of treatment in 23 participating NICUs. Patients were grouped according to their final outcome as survived (Group S) or as died or received extracorporeal membrane oxygenation (ECMO) (Group D/E). Patients' demographic characteristics and underlying diseases in addition to their ventilator settings, arterial blood gas (ABG) analysis results at 0, 1, 4, and 24 hours, type of device, ventilation duration, and complications were compared between groups. RESULTS: HFOV as rescue treatment was successful in 58.1% of patients. Demographic and treatment parameters were not different between groups, except that infants in Group D/E had lower birthweight (BW) (1655 ± 1091 vs. 1858 ± 1027 g, p = 0.006), a higher initial FiO2 setting (83% vs. 72%, p < 0.001), and a higher rate of nitric oxide exposure (21.8% vs. 11.1%, p = 0.004) in comparison to infants who survived (Group S). The initial cut-offs for a successful response on ABG were defined as pH >7.065 (OR: 19.74, 95% CI 4.83-80.6, p < 0.001), HCO3 >16.35 mmol/L (OR: 1.06, 95% CI 1.01-1.1, p = 0.006), and lactate level <3.75 mmol/L (OR: 1.09%95 CI 1.01-1.16, p = 0.006). Rescue HFOV duration was associated with retinopathy of prematurity (p = 0.005) and moderate or severe chronic lung disease (p < 0.001), but not with patent ductus arteriosus or intraventricular hemorrhage, in survivors (p > 0.05). CONCLUSION: Rescue HFOV as defined for this population was successful in more than half of the patients with CV failure. Although the response was not associated with gestational age, underlying disease, device used, or initial MV settings, it seemed to be more effective in patients with higher BW and those not requiring nitric oxide. Initial pH, HCO3, and lactate levels on ABG may be used as predictors of a response to rescue HFOV.
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Ventilación de Alta Frecuencia/mortalidad , Ventilación de Alta Frecuencia/métodos , Síndrome de Dificultad Respiratoria del Recién Nacido/terapia , Peso al Nacer , Oxigenación por Membrana Extracorpórea/métodos , Oxigenación por Membrana Extracorpórea/mortalidad , Femenino , Edad Gestacional , Humanos , Recién Nacido , Unidades de Cuidado Intensivo Neonatal , Ventilación con Presión Positiva Intermitente/métodos , Ventilación con Presión Positiva Intermitente/mortalidad , Lesión Pulmonar/prevención & control , Masculino , Estudios Prospectivos , Respiración , Respiración Artificial/métodos , Insuficiencia Respiratoria , Turquía , Ventilación/métodosRESUMEN
Netherton syndrome (NS) is a rare, autosomal recessive disease characterized with congenital ichthyosiform erythroderma, hair abnormality and atopic manifestations. This syndrome is caused by recessive mutation in the SPINK5 gene. Disease manifestations vary considerably among NS individuals. We report a newborn presented with severe respiratory insufficiency, hypothermia and erythroderma, was diagnosed as having NS and confirmed with molecular genetic testing.
El síndrome de Netherton (SN) es una enfermedad autosómica recesiva, muy poco frecuente, que se caracteriza por la presencia de eritrodermia ictiosiforme congénita, anomalías capilares y manifestaciones atópicas. Este síndrome es consecuencia de una mutación recesiva en el gen SPINK5. Las manifestaciones del síndrome de SN varían considerablemente entre las personas que lo padecen. Aquí informamos el caso de un recién nacido que presentaba insuficiencia respiratoria grave, hipotermia y eritrodermia, al que se le diagnosticó SN, confirmado mediante pruebas genéticas moleculares.
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Eritrodermia Ictiosiforme Congénita/etiología , Síndrome de Netherton/diagnóstico , Insuficiencia Respiratoria/etiología , Humanos , Hipotermia/etiología , Hipotermia/genética , Eritrodermia Ictiosiforme Congénita/genética , Recién Nacido , Masculino , Mutación , Síndrome de Netherton/genética , Insuficiencia Respiratoria/genética , Inhibidor de Serinpeptidasas Tipo Kazal-5/genéticaRESUMEN
Background/aim: Extracorporeal membrane oxygenation (ECMO) is a form of life support for patients with respiratory failure, cardiac failure, or both. The aim of this study was to evaluate neonates supported with ECMO and report our experience as a Turkish neonatal intensive care unit. Materials and methods: We retrospectively reviewed 11 newborn infants treated with ECMO at Ankara University for respiratory and cardiac failure. We reported the demographic, diagnostic, laboratory, and clinical data of the patients. Results: Eleven patients (9 male, 2 female) received ECMO support with a mean gestational age of 39.1 ± 1.6 weeks and mean birth weight of 3513 ± 506 g. Six patients received venoarterial (VA) ECMO and five patients received venovenous (VV) ECMO. Mean age at initiation and duration of ECMO was 7.2 ± 7.4 days (224 days) and 10.4 ± 4.9 days (521 days), respectively. Mean oxygenation index (OI) before ECMO was 48.5 ± 5.7. ECMO was withdrawn from one patient due to severe brain injury. The survival rate for ECMO was 73% and the survival rate to discharge was 64%, whereas the survival rate in congenital diaphragmatic hernia (CDH) cases was 40%. Conclusion: Our early results from ECMO for neonates are encouraging. Identification of patients for ECMO support and timely referral will offer a survival opportunity to complex neonatal cases.
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BACKGROUND: Neonatal jaundice (NNJ) is common, but few root cause analyses based on national quality registries have been performed. An online registry was established to estimate the incidence of NNJ in Turkey and to facilitate a root cause analysis of NNJ and its complications. METHODS: A multicenter prospective study was conducted on otherwise healthy newborns born at ≥35 weeks of gestation and hospitalized for only NNJ in 50 collaborator neonatal intensive care units across Turkey over a 1-year period. Patients were analyzed for their demographic and clinical characteristics, treatment options, and complications. RESULTS: Of the 5,620 patients enrolled, 361 (6.4%) had a bilirubin level ≥25 mg/dL on admission and 13 (0.23%) developed acute bilirubin encephalopathy. The leading cause of hospital admission was hemolytic jaundice, followed by dehydration related to a lack of proper feeding. Although all infants received phototherapy, 302 infants (5.4%) received intravenous immunoglobulin in addition to phototherapy and 132 (2.3%) required exchange transfusion. The infants who received exchange transfusion were more likely to experience hemolytic causes (60.6% vs. 28.1%) and a longer duration of phototherapy (58.5 ± 31.7 vs. 29.4 ± 18.8 h) compared to infants who were not transfused (p < 0.001). The incidence of short-term complications among discharged patients during follow-up was 8.5%; rehospitalization was the most frequent (58%), followed by jaundice for more than 2 weeks (39%), neurological abnormality (0.35%), and hearing loss (0.2%). CONCLUSIONS: Severe NNJ and bilirubin encephalopathy are still problems in Turkey. Means of identifying at-risk newborns before discharge during routine postnatal care, such as bilirubin monitoring, blood group analysis, and lactation consultations, would reduce the frequency of short- and long-term complications of severe NNJ.
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Registros Electrónicos de Salud , Hospitalización , Internet , Ictericia Neonatal , Fototerapia , Sistema de Registros , Femenino , Estudios de Seguimiento , Humanos , Recién Nacido , Ictericia Neonatal/epidemiología , Ictericia Neonatal/terapia , Kernicterus/epidemiología , Kernicterus/terapia , Masculino , Estudios Prospectivos , Turquía/epidemiologíaRESUMEN
El síndrome de Netherton (SN) es una enfermedad autosómica recesiva, muy poco frecuente, que se caracteriza por la presencia de eritrodermia ictiosiforme congènita, anomalías capilares y manifestaciones atópicas. Este síndrome es consecuencia de una mutación recesiva en el gen SPINK5. Las manifestaciones del síndrome de SN varían considerablemente entre las personas que lo padecen. Aquí informamos el caso de un recién nacido que presentaba insuficiencia respiratoria grave, hipotermia y eritrodermia, al que se le diagnosticó SN, confirmado mediante pruebas genéticas moleculares.
Netherton syndrome (NS) is a rare, autosomal recessive disease characterized with congenital ichthyosiform erythroderma, hair abnormality and atopic manifestations. This syndrome is caused by recessive mutation in the SPINK5 gene. Disease manifestations vary considerably among NS individuals. We report a newborn presented with severe respiratory insufficiency, hypothermia and erythroderma, was diagnosed as having NS and confirmed with molecular genetic testing.