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1.
J Pediatr Genet ; 13(2): 139-143, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38721582

ABSTRACT

Townes-Brocks syndrome (TBS) is a rare syndrome characterized by triad of anal, ear, and thumb anomalies. Further malformations/anomalies include congenital heart diseases, foot malformations, sensorineural and/or conductive hearing impairment, genitourinary malformations, and anomalies of eye and nervous system. Definitive diagnosis for TBS is confirmed by molecular analysis for mutations in the SALL1 gene. Only one known case of TBS with absent pulmonary valve syndrome (APVS) has been previously described to our knowledge. Here, we report a newborn diagnosed with TBS with APVS and tetralogy of Fallot (TOF) who was found to carry the most common pathogenic SALL1 gene mutation c.826C > T (p.R276X), with its surgical repair and postoperative follow-up. To our knowledge, this is the first genotyped case of TBS from Turkey to date. TBS should be suspected in the presence of ear, anal, and thumb malformations in a neonate. If a patient with TBS and TOF-APVS needs preoperative ventilation within the first months of life, this implies prolonged postoperative intubation and increased risk of mortality.

2.
Klin Padiatr ; 236(1): 31-38, 2024 Jan.
Article in English | MEDLINE | ID: mdl-37647914

ABSTRACT

OBJECTIVE: This study aims to examine the accuracy of transcutaneous bilirubin (TcB) in estimating the total serum bilirubin (TSB) level at five different sites before and immediately after phototherapy. METHODS: This study prospectively enrolled infants with a gestational age of 34 to 416/7 weeks who were clinically diagnosed with neonatal jaundice and required phototherapy within 28 days after birth. TcB levels were measured on the uncovered four areas (forehead, mid-sternum, abdomen, and interscapular site) and covered hipbone by using the Dräger JM-103 Jaundice Meter before phototherapy and at 0 min after discontinuing phototherapy. Correlation and agreement between TcB and TSB levels were assessed before and after phototherapy. RESULTS: We included 108 infants with a mean gestational age of 37.6±1.5 weeks and birth weight of 3108±548 g. A strong significant correlation was found between TSB and TcB measurements at all five sites before phototherapy with the strongest correlation at the interscapular site (r=0.768, p=0.001). The correlation was weakened between TSB and TcB at all five sites after phototherapy; however, the strongest correlation was at the covered hipbone (r=0.619, p=0.001). TcB measurements at all five sites tended to underestimate TSB levels before and after phototherapy. The difference (TcB - TSB) tended to increase with increasing TSB levels. CONCLUSIONS: TcB levels were most accurately measured at the interscapular site and covered hipbone before and immediately after phototherapy, respectively.


Subject(s)
Jaundice, Neonatal , Skin , Infant , Infant, Newborn , Humans , Jaundice, Neonatal/diagnosis , Jaundice, Neonatal/therapy , Gestational Age , Bilirubin , Phototherapy , Neonatal Screening
3.
Am J Perinatol ; 40(12): 1300-1305, 2023 09.
Article in English | MEDLINE | ID: mdl-34544192

ABSTRACT

OBJECTIVE: The perfusion index (PI) is a noninvasive marker derived from photoelectric plethysmographic signals in pulse oximetry in the evaluation of peripheral perfusion. This study was aimed to determine the correlation between PI and left ventricular output (LVO) in healthy late preterm infants at 48th hour of life. STUDY DESIGN: With new generation pulse oximeter (MASIMO Rad 7 Oximeter) pre- and post-ductal PI values were recorded from healthy late preterm babies at the 48th hour of life. PI was determined simultaneously with LVO as measured by transthoracic echocardiography. RESULTS: A total of 50 late preterm babies were included in the study. The mean gestational age of the cases was 35.4 ± 0.7 weeks and the birth weight was 2,586 ± 362 g. Mean pre- and post-ductal PI values at the postnatal 48th hour of babies' life were found to be 2.0 ± 0.9 and 1.7 ± 1.1. The mean LVO value was 438 ± 124, LVO/kg 175 ± 50. When the LVO value was normalized according to the babies' body weight, there was no statistically significant correlation between the pre- and post-ductal PI and the LVO/kg value (r <0.2, p >0.05 in both comparisons). CONCLUSION: There was no correlation between pre- and post-ductal PI and LVO values in healthy late preterm infants. This may be due to the failure of the LVO, a systemic hemodynamic parameter, to accurately reflect microvascular blood flow due to incomplete maturation of the sympathetic nervous system involved in the regulation of peripheral tissue perfusion in preterm babies. KEY POINTS: · No correlation found between PI and LOV in preterm babies.. · LVO cannot adequately reflect peripheral blood flow.. · Sympathetic nervous system is immature in preterm infants..


Subject(s)
Infant, Premature , Perfusion Index , Infant , Infant, Newborn , Humans , Infant, Premature/physiology , Hemodynamics , Echocardiography , Birth Weight , Oxygen
5.
Klin Padiatr ; 234(4): 206-214, 2022 Jul.
Article in English | MEDLINE | ID: mdl-35231937

ABSTRACT

BACKGROUND: This study aimed to assess the risk factors for clinical seizures in newborns treated with whole body cooling (WBC) for hypoxic ischemic encephalopathy (HIE). METHODS: Infants with gestational age≥36 weeks and birth weight≥2.000 g who were treated with WBC due to HIE were retrospectively enrolled in this study. Patients were assigned to two groups: infants without clinical seizures (Group 1) and infants with clinical seizures (Group 2). The two groups were compared to determine the risk factors for the occurrence of clinical seizures. RESULTS: A total of 25 patients (Group 1=10 and Group 2=15) were included in the study. Prothrombin time (PT) was determined as independent risk factor for clinical seizures (p=0.046) and the odds ratio for the effect of PT was found as 1.475 (%95 CI:1.006-2.299). PT (area under the curve [AUC]=0.764; p=0.041), and increased cardiac troponin-I (cTnI) (AUC=0.935; p=0.002) were found to be significant risk factors for predicting the occurrence of clinical seizures. The optimal PT cut-off value was 22.7 sec, with a sensitivity and specificity of 45.4% and 90%, respectively; as well as positive and negative predictive value of 83.3% and 60.0%, respectively. The chest compression in the delivery room, severely abnormal amplitude integrated electroencephalography and high encephalopathy score were also found risk factors for occurrence of clinical seizures. CONCLUSION: Chest compression in the delivery room, high encephalopathy score, prolonged PT, and increased cTnI are significant factors for clinical seizures in newborns treated with WBC for HIE.


Subject(s)
Hypothermia, Induced , Hypoxia-Ischemia, Brain , Electroencephalography , Humans , Hypothermia, Induced/adverse effects , Hypoxia-Ischemia, Brain/diagnosis , Hypoxia-Ischemia, Brain/therapy , Infant , Infant, Newborn , Retrospective Studies , Risk Factors , Seizures/etiology , Seizures/therapy
6.
J Pediatr Intensive Care ; 11(1): 62-66, 2022 Mar.
Article in English | MEDLINE | ID: mdl-35178279

ABSTRACT

Pompe disease (PD) is an autosomal recessive lysosomal storage disorder caused by a deficiency of acid α-1,4-glucosidase enzyme (GAA). PD has two forms, namely the infantile-onset and the late-onset form. In untreated cases, infantile-onset form usually leads to cardio-respiratory failure and death in the first year of life. Herein, we report a newborn with infantile-onset PD characterized by muscular hypotonia, respiratory distress, hypertrophic cardiomyopathy, hepatomegaly, elevated serum enzyme levels of aspartate aminotransferase of 117 IU/L (three times the normal value), alanine aminotransferase of 66 IU/L (1.8 times the normal value), lactate dehydrogenase of 558 IU/L (1.2 times the normal value), and creatine kinase >5,000 IU/L (16 times the normal value). Dried blood spot testing was performed and revealed decreased GAA enzymatic activity (0.07 nmol/mL/h, normal 0.93-7.33 nmol/mL/h). GAA gene analysis performed for confirming the diagnosis showed homozygous mutation c.896T >C (p.Leu299Pro). Initiation of enzyme replacement therapy (ERT) (ERT; 20 mg/kg, once every week) at 28 days of age resulted in weaning off from respiratory support within 1 week after treatment, normalization of cardiac abnormalities, and normal neuromotor development in the 16th month of age. Early diagnosis and early treatment with ERT, especially in the neonatal period, is of great importance to improve cardiac function and motor development in infantile-onset PD.

7.
J Pediatr Intensive Care ; 10(4): 317-322, 2021 Nov.
Article in English | MEDLINE | ID: mdl-34745708

ABSTRACT

Permanent junctional reciprocating tachycardia (PJRT) is most often observed in infants and children and can lead to incessant tachycardia. PJRT is usually refractory to medical treatment. Tachycardia may infrequently occur in the fetus in which case fetal tachycardia transplacental treatment should be started immediately. Term delivery is recommended for fetuses with tachycardia in the absence of significant clinical compromise to avoid complications of preterm birth. Herein, a 36-week preterm neonate presented with PJRT. He had tachycardia in the fetal period and was treated with digoxin, amiodaron, and esmolol therapy after birth without undergoing the catheter ablation procedure.

8.
J Trop Pediatr ; 67(3)2021 07 02.
Article in English | MEDLINE | ID: mdl-32778897

ABSTRACT

AIM: The aim of our study was to determine the factors associated with mortality in neonates with carbapenem-resistant Klebsiella pneumoniae (CRKP). MATERIAL AND METHODS: This retrospective, single-center study was conducted in the Neonatal Intensive Care Unit of Harran University Faculty of Medicine between January 2017 and July 2018 who had CRKP growth in their blood, urine or cerebrospinal fluid cultures. The discharged group was designated as the control group (Group 1), whereas the group that faced mortality was classified as the case group (Group 2). The demographic data, clinical findings and laboratory and microbiological results of the two groups were compared to identify risk factors. RESULTS: A total of 58 patients (36 in Group 1 and 22 in Group 2) exhibited CRKP growth during the study period. Low birth weight (p = 0.039), previous antifungal (p = 0.002) or amikacin use (p = 0.040), congenital anomalies (p = 0.002), total parenteral nutrition (TPN) administration (p = 0.002), surgery (p = 0.035), thrombocytopenia (p = 0.007), low platelet mass index (p = 0.011), elevated C-reactive protein (p = 0.004), high carbapenem minimum inhibitory concentration (MIC) (p = 0.029) and high amikacin MIC (p = 0.019) were associated with mortality. In a multivariate regression analysis, previous antifungal use (p = 0.028), congenital anomalies (p = 0.032) and TPN use (p = 0.013) were independent factors in predicting mortality. CONCLUSION: Previous antifungal use, congenital anomalies and TPN use were found to be independent risk factors for mortality in neonates with CRKP infection.


Subject(s)
Klebsiella Infections , Klebsiella pneumoniae , Anti-Bacterial Agents/therapeutic use , Carbapenems , Disease Outbreaks , Drug Resistance, Bacterial , Humans , Infant, Newborn , Intensive Care Units , Intensive Care Units, Neonatal , Klebsiella Infections/drug therapy , Klebsiella Infections/epidemiology , Retrospective Studies , Risk Factors
9.
Am J Perinatol ; 38(S 01): e116-e122, 2021 08.
Article in English | MEDLINE | ID: mdl-32198745

ABSTRACT

OBJECTIVE: The aim of this study was to evaluate the effects of caffeine on cerebral oxygenation in preterm infants. STUDY DESIGN: This was a prospective study of infants with a gestational age (GA) of < 34 weeks who were treated intravenously with a loading dose of 20 mg/kg caffeine citrate within the first 48 hours of life. Regional cerebral oxygen saturation (rSO2C) and cerebral fractional tissue oxygen extraction (cFTOE) were measured using near-infrared spectroscopy before administering caffeine (baseline), immediately after administering caffeine, and 1, 2, 3, 4, 6, and 12 hours after dose completion; postdose values were compared with the baseline values. RESULTS: A total of 48 infants with a mean GA of 29.0 ± 1.9 weeks, birth weight of 1,286 ± 301 g, and postnatal age of 32.4 ± 11.3 hours were included in the study. rSO2C significantly decreased from 81.3 to 76.7% soon after administering caffeine, to 77.1% at 1 hour, and to 77.8% at 2 hours with recovery at 3 hours postdose. rSO2C was 80.2% at 12 hours postdose. cFTOE increased correspondingly. Although rSO2C values were lower and cFTOE values were higher compared with the baseline values at 3, 4, 6, and 12 hours after caffeine administration, this was not statistically significant. CONCLUSION: A loading dose of caffeine temporarily reduces cerebral oxygenation and increases cerebral tissue oxygen extraction in preterm infants. Most probably these changes reflect a physiological phenomenon without any clinical importance to the cerebral hemodynamics, as the reduction in cerebral oxygenation and increase in cerebral tissue oxygen extraction remain well within acceptable range.


Subject(s)
Brain/metabolism , Caffeine/pharmacology , Citrates/pharmacology , Infant, Premature/metabolism , Oxygen Saturation/drug effects , Oxygen/blood , Caffeine/administration & dosage , Citrates/administration & dosage , Female , Humans , Infant, Newborn , Infant, Premature/blood , Infant, Premature, Diseases/mortality , Infusions, Intravenous , Male , Prospective Studies , Spectroscopy, Near-Infrared
10.
Am J Perinatol ; 38(10): 1062-1069, 2021 08.
Article in English | MEDLINE | ID: mdl-32069484

ABSTRACT

OBJECTIVE: The aim of this study is to assess the effects of administering 20 mg/kg loading dose of caffeine citrate intravenously on splanchnic oxygenation in preterm infants. STUDY DESIGN: The infants with a gestational age (GA) of <34 weeks who were administered with a 20 mg/kg intravenous loading dose of caffeine citrate within 48 hours after birth were investigated prospectively. Regional splanchnic oxygen saturation (rsSO2) and splanchnic fractional tissue oxygen extraction rate (sFTOE) were measured using near-infrared spectroscopy before caffeine infusion, immediately after caffeine infusion and 1, 2, 3, 4, and 6 hours (h) after dose completion; postdose values were compared with predose values. RESULTS: A total of 41 infants with a mean GA of 29.2 ± 1.6 weeks and birth weight of 1,315 ± 257 g as well as postnatal age of 32.2 ± 10.8 hours were included in the study. rsSO2 significantly reduced from 63.1 to 57.5% immediately after caffeine infusion, 55.1% after 1 hour, and 55.2% after 2 hours with partial recovery at 3-hour postdose. sFTOE increased correspondingly. CONCLUSION: Caffeine reduces splanchnic oxygenation and increases splanchnic oxygen extraction for at least 2 hours with partial recovery to predose levels at 3-hour postdose.


Subject(s)
Caffeine/administration & dosage , Citrates/administration & dosage , Oxygen Saturation/drug effects , Splanchnic Circulation/drug effects , Caffeine/pharmacokinetics , Citrates/pharmacokinetics , Female , Gestational Age , Humans , Infant, Newborn , Infant, Premature , Male , Prospective Studies , Spectroscopy, Near-Infrared
11.
J Pediatr Intensive Care ; 9(2): 145-148, 2020 Jun.
Article in English | MEDLINE | ID: mdl-32351772

ABSTRACT

Pseudohypoaldosteronism is a rare disease characterized by resistance to aldosterone-targeted organs, hyponatremia, hyperkalemia, metabolic acidosis, and severe salt loss in hyperaldosteronism. Homozygous mutations in SCNN1A , SCNN1B, and SCNN1G genes were found to be responsible for the etiology. About 80 cases with molecular basis have been reported to date. In this case, a newborn patient admitted to our neonatal intensive care unit due to feeding problems was examined. The parents of the patient had a consanguineous marriage, and they had lost their three sons due to hyperkalemia. Since she had hyponatremia and hyperkalemia, congenital adrenal hyperplasia was primarily considered. Although the initial evaluation was made in this direction, the patient was diagnosed as pseudohypoaldosteronism type 1 with the findings obtained during the process such as dehydration, cortisol levels, adrenocorticotropic hormone levels, and negative CYP21A2 analysis result. This clinical diagnosis was confirmed by the novel homozygous frame-shift variant c.1245_1246insC (p.N416Qfs*35) in SCNN1B shown by gene analysis. In this report, we seek to emphasize that aldosterone deficiency should be one of the first diagnoses to be considered in neonatal patients with hyponatremia, hyperkalemia, metabolic acidosis, and dehydration.

12.
Pediatr Int ; 62(4): 484-491, 2020 Apr.
Article in English | MEDLINE | ID: mdl-31845487

ABSTRACT

BACKGROUND: The aim of this study was to compare nasal masks (NM) with binasal prongs (NP) for applying nasal intermittent mandatory ventilation (NIMV) by assessing the duration of respiratory distress, rate of intubation, and nasal trauma in term infants with transient tachypnea of the newborn (TTN). METHODS: Infants with a gestational age ≥37 weeks and birthweight ≥2,000 g who had NIMV administered for TTN were enrolled. We randomly allocated 80 neonates to the NM (n = 40) or NP (n = 40) group. Duration of respiratory distress was the primary outcome of this study. RESULTS: There were no statistically significant differences between the groups for the duration of tachypnea and NIMV (P = 0.94 and P = 0.13, respectively). No significant differences were observed between the two groups in terms of duration of oxygen supplementation and length of hospitalization (P = 0.72 and P = 0.70, respectively). The incidence of any grade of trauma and moderate trauma (grade II) was significantly higher in the NP group than in the NM group (P = 0.004 and P = 0.04, respectively). The rate of NIMV failure and other complications, including pneumothorax, pneumonia and feeding intolerance, was not significantly different in the groups. CONCLUSIONS: In term infants with TTN, delivering NIMV using NP in comparison to using NM appears to be similar with regard to the duration of respiratory distress and preventing intubation. However, the use of NP involves a greater risk of trauma than that of NM.


Subject(s)
Intermittent Positive-Pressure Ventilation/instrumentation , Masks , Transient Tachypnea of the Newborn/therapy , Female , Gestational Age , Humans , Incidence , Infant, Newborn , Intermittent Positive-Pressure Ventilation/methods , Intubation/statistics & numerical data , Length of Stay/statistics & numerical data , Male , Nose , Oxygen Inhalation Therapy/statistics & numerical data , Pneumonia/epidemiology , Pneumothorax/epidemiology , Prospective Studies , Respiratory Distress Syndrome, Newborn/therapy , Risk Factors , Treatment Outcome
13.
Pediatr Int ; 61(7): 697-705, 2019 Jul.
Article in English | MEDLINE | ID: mdl-31140210

ABSTRACT

BACKGROUND: Platelet mass index (PMI) is associated with platelet functionality. The aim of this study was to evaluate the role of PMI in predicting the severity of transient tachypnea of the newborn (TTN). METHODS: Infants with gestational age ≥37 weeks and birthweight ≥2,000 g who were given nasal intermittent mandatory ventilation for TTN ≤6 h after birth were retrospectively enrolled in this study. PMI was calculated using the following formula: PMI = platelet count × mean platelet volume/103 (fL/nL). The study infants (n = 101) were divided into two groups according to the duration of tachypnea: ≤48 h (n = 45) and >48 h (n = 56). RESULTS: The PMI and platelet count were significantly lower in the group with tachypnea duration >48 h than in the tachypnea duration ≤48 h group (P < 0.001 and P = 0.04, respectively). A negative significant correlation was noted between PMI and the duration of tachypnea (r = -0.43, P < 0.001). A PMI cut-off of 1,562 fL/nL can predict prolonged tachypnea (>48 h) with a sensitivity of 62.5%, specificity of 68.9%, positive predictive value of 71.4%, and negative predictive value of 59.6% (area under the curve, 0.682 ± 0.053; P = 0.002). CONCLUSIONS: Lower PMI and lower platelet count are associated with longer duration of tachypnea in patients with TTN.


Subject(s)
Blood Platelets/metabolism , Severity of Illness Index , Transient Tachypnea of the Newborn/diagnosis , Biomarkers/blood , Female , Humans , Infant, Newborn , Male , Mean Platelet Volume , Platelet Count , Retrospective Studies , Sensitivity and Specificity , Time Factors , Transient Tachypnea of the Newborn/blood
14.
BMJ Case Rep ; 20182018 Sep 21.
Article in English | MEDLINE | ID: mdl-30244227

ABSTRACT

Development of hypertrophic pyloric stenosis (HPS) after a few weeks of repair of an oesophageal atresia (OA) and tracheo-oesophageal fistula (TOF) is a rare condition in early infancy. Although vomiting or feeding intolerance in operated cases of OA+TOF are attributed to oesophageal stricture, gastro-oesophageal reflux and oesophageal dysmotility, it may also be caused by HPS. Herein, we report a newborn infant who had OA and TOF operation on day 2 of life and diagnosed to have HPS at 15th day of age. Even though it is a rare anomaly, HPS should be kept on mind in the presence of persistent vomiting following repair of OA.


Subject(s)
Anastomosis, Surgical/methods , Esophageal Atresia/surgery , Heart Defects, Congenital/diagnostic imaging , Pulmonary Atelectasis/diagnosis , Pyloric Stenosis, Hypertrophic/diagnosis , Tracheoesophageal Fistula/surgery , Anti-Bacterial Agents/therapeutic use , Esophageal Atresia/diagnostic imaging , Esophageal Atresia/physiopathology , Female , Heart Defects, Congenital/physiopathology , Humans , Infant, Newborn , Pulmonary Atelectasis/drug therapy , Pulmonary Atelectasis/physiopathology , Pyloric Stenosis, Hypertrophic/physiopathology , Pyloric Stenosis, Hypertrophic/surgery , Radiography, Thoracic , Tracheoesophageal Fistula/diagnostic imaging , Tracheoesophageal Fistula/physiopathology , Treatment Outcome , Vomiting
15.
BMJ Case Rep ; 20182018 Sep 23.
Article in English | MEDLINE | ID: mdl-30249736

ABSTRACT

'Ping-pong' fractures are depressed skull fractures in newborn infants that occur as inward buckling of the calvarial bones, forming a cup shape. These fractures are often associated with maintenance of bone continuity. These fractures may occur spontaneously during the intrauterine period or secondary to birth trauma. Currently, there is no standard protocol for the management of depressed skull fractures. Neurosurgical or non-surgical approaches may be administered depends on the severity of the fracture. Most untreated ping-pong fractures resolve spontaneously within 6 months. Therefore, it is recommended to reserve surgical elevation or non-surgical techniques for infants not demonstrating spontaneous resolution during this period. In addition, neurosurgical interventions are usually considered for cases with intracranial pathology or neurological deficits or for infants who do not respond to conservative treatment. Herein, we report a case of a newborn infant with a spontaneous intrauterine ping-pong fracture, which spontaneously resolved, without surgical or non-surgical intervention.


Subject(s)
Fractures, Spontaneous/congenital , Fractures, Spontaneous/diagnosis , Parietal Bone/injuries , Skull Fracture, Depressed/congenital , Skull Fracture, Depressed/diagnosis , Humans , Infant, Newborn , Male
16.
Paediatr Drugs ; 20(5): 475-481, 2018 Oct.
Article in English | MEDLINE | ID: mdl-30073562

ABSTRACT

BACKGROUND: Given the severity and high mortality of multidrug-resistant Gram-negative bacilli (MDR-GNB) infections, the use of colistin will increase in patients with MDR-GNB infection. OBJECTIVE: This study aims to assess the efficacy and safety of intravenous colistin in very low birth weight (VLBW; birth weight < 1500 g) preterm infants. METHODS: We retrospectively analyzed the medical records of patients who received colistin between June 2016 and December 2017. The patients were assigned to two groups: the VLBW group and the non-VLBW group. Both groups were evaluated for response to treatment and adverse effects. RESULTS: In total, 66 infants who received colistin therapy were included; of these, 28 infants were VLBW. All of our patients received standard colistin treatment of 5 mg/kg per day in three doses and the median duration of colistin treatment was 14 days. No significant differences were observed between the groups with respect to the efficacy of colistin (defined as showing microbiological clearance in control cultures and the absence of mortality during treatment) (89.3 vs 86.8%, p > 0.99). Serum magnesium and potassium levels were significantly lower in the VLBW group than in the non-VLBW group during colistin therapy (magnesium, 1.30 vs 1.70 mg/dL, p < 0.001; potassium, 3.6 vs 4.6 mEq/L, p < 0.001). Acute kidney injury was observed in four infants in the VLBW group and one in the non-VLBW group, without significant differences (p = 0.15). CONCLUSIONS: Colistin administration appears to be efficacious in VLBW infants; however, renal function tests and serum electrolytes should be monitored more closely in these infants during treatment.


Subject(s)
Anti-Bacterial Agents/administration & dosage , Colistin/administration & dosage , Drug Resistance, Multiple, Bacterial/drug effects , Gram-Negative Bacterial Infections/drug therapy , Infant, Very Low Birth Weight , Acute Kidney Injury/chemically induced , Administration, Intravenous , Anti-Bacterial Agents/adverse effects , Colistin/adverse effects , Female , Humans , Infant , Infant, Newborn , Infant, Premature , Male , Retrospective Studies , Treatment Outcome
17.
J Int Med Res ; 46(4): 1606-1616, 2018 Apr.
Article in English | MEDLINE | ID: mdl-29480083

ABSTRACT

Objective Sepsis is a complex clinical condition caused by a dysregulated immune response to an infection resulting in a fatal outcome. This study aimed to investigate the value of urine soluble triggering receptor expressed on myeloid cells (sTREM-1) for diagnosing culture-proven sepsis in preterm infants. Methods Preterm neonates were evaluated for late-onset sepsis (LOS). Laboratory investigations were performed. Urine sTREM-1 samples and blood cultures were synchronously collected. Using blood culture results, preterm neonates were divided into the culture-proven group and suspected sepsis group. Results A total of preterm 62 infants were included in the study; 31 had culture-proven sepsis and 31 were suspected as having sepsis. There were no significant differences in gestational age, sex, birth weight, and delivery mode between the groups. Neonates in the culture-proven group had significantly higher urine sTREM-1 levels than did those in the suspected sepsis group. Using a cut-off point for a urine sTREM-1 level of 78.5 pg/mL, the sensitivity was 0.90, specificity was 0.78, positive predictive value was 0.68, and negative predictive value was 0.94. Conclusions The present study highlights the role of urine sTREM-1 levels in LOS. Urine sTREM-1 may be a reliable and sensitive marker in detecting sepsis in preterm infants.


Subject(s)
Neonatal Sepsis/diagnosis , Neonatal Sepsis/urine , Premature Birth/urine , Triggering Receptor Expressed on Myeloid Cells-1/metabolism , Age of Onset , Female , Humans , Infant, Newborn , Male , ROC Curve , Sensitivity and Specificity , Solubility
18.
Arch. argent. pediatr ; 116(1): 130-134, feb. 2018. ilus
Article in English, Spanish | LILACS, BINACIS | ID: biblio-887444

ABSTRACT

El síndrome del incisivo central único de la línea media del maxilar es un trastorno raro que implica anomalías de la línea media, como holoprosencefalia, anomalías de las fosas nasales, fisura palatina, labio leporino, hipotelorismo, microcefalia y panhipopituitarismo. La estenosis congénita del orificio nasal anterior es una causa mortal de dificultad respiratoria neonatal debido al estrechamiento del orificio nasal anterior, y podría confundirse con la atresia de coanas. En este informe, presentamos el caso de un recién nacido con síndrome del incisivo central único de la línea media del maxilar acompañado de otras anomalías, tales como holoprosencefalia, estenosis del orificio nasal anterior, microcefalia y panhipopituitarismo. El cariotipado mostró una deleción heterocigota en el gen SIX3 en la región 2p21, que produjo una forma más grave de holoprosencefalia.


Solitary median maxillary central incisor syndrome is a rare disorder involving midline abnormalities such as holoprosencephaly, nasal cavity anomalies, cleft palate-lip, hypotelorism, microcephaly, and panhypopituitarism. Congenital nasal pyriform aperture stenosis is a lethal cause of neonatal respiratory distress due to narrowing of the pyriform aperture anteriorly and it can be confused with choanal atresia. In this report, we present a newborn infant with solitary median maxillary central incisor syndrome accompanied by other abnormalities including holoprosencephaly, nasal pyriform aperture stenosis, microcephaly and panhypopituitarism. Chromosomal analysis showed heterozygous SIX3 gene deletion at 2p21 region resulting in a more severe form of holoprosencephaly.


Subject(s)
Humans , Female , Infant, Newborn , Nasal Obstruction/diagnostic imaging , Holoprosencephaly/diagnostic imaging , Incisor/abnormalities , Anodontia/diagnostic imaging , Nasal Bone/abnormalities , Syndrome , Abnormalities, Multiple , Infant, Premature , Constriction, Pathologic/congenital , Incisor/diagnostic imaging , Nasal Bone/diagnostic imaging
19.
Arch Argent Pediatr ; 116(1): e130-e134, 2018 Feb 01.
Article in English, Spanish | MEDLINE | ID: mdl-29333838

ABSTRACT

Solitary median maxillary central incisor syndrome is a rare disorder involving midline abnormalities such as holoprosencephaly, nasal cavity anomalies, cleft palate-lip, hypotelorism, microcephaly, and panhypopituitarism. Congenital nasal pyriform aperture stenosis is a lethal cause of neonatal respiratory distress due to narrowing of the pyriform aperture anteriorly and it can be confused with choanal atresia. In this report, we present a newborn infant with solitary median maxillary central incisor syndrome accompanied by other abnormalities including holoprosencephaly, nasal pyriform aperture stenosis, microcephaly and panhypopituitarism. Chromosomal analysis showed heterozygous SIX3 gene deletion at 2p21 region resulting in a more severe form of holoprosencephaly.


El síndrome del incisivo central único de la línea media del maxilar es un trastorno raro que implica anomalías de la línea media, como holoprosencefalia, anomalías de las fosas nasales, fisura palatina, labio leporino, hipotelorismo, microcefalia y panhipopituitarismo. La estenosis congénita del orificio nasal anterior es una causa mortal de dificultad respiratoria neonatal debido al estrechamiento del orificio nasal anterior, y podría confundirse con la atresia de coanas. En este informe, presentamos el caso de un recién nacido con síndrome del incisivo central único de la línea media del maxilar acompañado de otras anomalías, tales como holoprosencefalia, estenosis del orificio nasal anterior, microcefalia y panhipopituitarismo. El cariotipado mostró una deleción heterocigota en el gen SIX3 en la región 2p21, que produjo una forma más grave de holoprosencefalia.


Subject(s)
Abnormalities, Multiple , Anodontia , Holoprosencephaly , Incisor/abnormalities , Nasal Bone/abnormalities , Nasal Obstruction , Anodontia/diagnostic imaging , Constriction, Pathologic/congenital , Female , Holoprosencephaly/diagnostic imaging , Humans , Incisor/diagnostic imaging , Infant, Newborn , Infant, Premature , Nasal Bone/diagnostic imaging , Nasal Obstruction/diagnostic imaging , Syndrome
20.
J Clin Lab Anal ; 32(4): e22338, 2018 May.
Article in English | MEDLINE | ID: mdl-29055117

ABSTRACT

BACKGROUND: The neutrophil to lymphocyte ratio (NLR) is an easily accessible biomarker that has been reported to represent disease severity in adult trials. The aim of this study was to evaluate the relationship between culture positiveness and NLR in cases where the reason of sepsis was considered, and to foresight an idea about the active agents. METHODS: Preterm infants with birth weights ≤1500 g and/or ≤32 gestational weeks were eligible for this study. The postnatal age of all included infants was more than 3 days with clinical and laboratory signs of sepsis. According to the results of blood cultures, all enrolled infants were classified into 2 groups: the culture-proven septic infants and suspected septic infants. The NLR was calculated as the ratio of neutrophil count to lymphocyte count. Initial laboratory investigations included WBC count, platelet count (PLT), C-reactive protein (CRP), and blood cultures. RESULTS: A total of 127 infants were involved: 57 culture-proven sepsis and 75 suspected sepsis. There were no significant differences between groups regarding gestational age, gender, birth weight, delivery mode, and postnatal age. Receiver operating curve analysis for NLR and CRP was calculated. The area under the curve corresponded to 0.78 ± 0.04 (NLR) vs 0.55 ± 0.05 (CRP). Using a cutoff point of 1.77 for NLR, the sensitivity was 0.73, the specificity was 0.78, and accuracy rate was 0.76. DISCUSSION: The prediction of NLR, an easy, inexpensive, and rapid method, along with CRP in the neonatal period for diagnosis of sepsis, will be more effective in detecting culture-proven sepsis and in decreasing unnecessary antibiotherapy.


Subject(s)
Leukocyte Count/statistics & numerical data , Lymphocytes/cytology , Neonatal Sepsis/diagnosis , Neonatal Sepsis/epidemiology , Neutrophils/cytology , Humans , Infant , Infant, Newborn , Infant, Premature , Prospective Studies , ROC Curve
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