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1.
J Int Med Res ; 48(12): 300060520977442, 2020 Dec.
Article in English | MEDLINE | ID: mdl-33372811

ABSTRACT

OBJECTIVE: This study aimed to evaluate the significance of urinary kidney injury molecule-1 (uKIM-1) levels in predicting acute kidney injury (AKI) and mortality in very low birth weight (VLBW) preterm infants. METHODS: This prospective, observational cohort study was conducted on 39 VLBW preterm infants. Serum creatinine (SCr) and uKIM-1 levels were measured in the first 24 and 48 to 72 hours of life. The estimated glomerular filtration rate (eGFR) was calculated. Levels of uKIM-1 were measured with an enzyme-linked immunosorbent assay. RESULTS: Among 39 VLBW infants, 9 (23%) developed AKI. The mortality rate was 17.9% (n = 7 neonates). There was no significant difference in SCr levels, uKIM-1 levels, or the eGFR obtained in the first 24 hours in the AKI group compared with controls. However, significant differences were found in SCr and uKIM-1 levels, and the eGFR rate at 48 to 72 hours between the groups. Levels of uKIM-1 were significantly higher in non-survivors than in survivors in the first 24 and 48 to 72 hours of life. CONCLUSION: The level of uKIM-1 can be used as a simple noninvasive diagnostic method for predicting AKI and mortality, especially within 48 to 72 hours of life.Clinical trial registration: We do not have a clinical trial registration ID. In Turkey, clinical trial registration is not required for non-drug, noninvasive, clinical studies.


Subject(s)
Acute Kidney Injury , Infant, Premature , Acute Kidney Injury/diagnosis , Biomarkers , Creatinine , Humans , Infant , Infant, Newborn , Infant, Very Low Birth Weight , Kidney , Prospective Studies , Turkey
2.
Endocr Res ; 42(2): 79-85, 2017 May.
Article in English | MEDLINE | ID: mdl-27352223

ABSTRACT

PURPOSE: Ghrelin is a potent orexigenic peptide hormone secreted from the gastrointestinal tract that plays a crucial role in the regulation of lipids and glucose metabolism. Ghrelin also has links with fetal development and growth. Gestational diabetes mellitus (GDM) causes fetal macrosomia, but there is no available evidence of a relationship between ghrelin levels and birth weight in women with GDM. The purpose of this study is to investigate whether umbilical cord ghrelin concentrations are altered in full-term pregnant women with GDM compared to women without GDM and whether birth weight is correlated with ghrelin levels. MATERIALS AND METHODS: Sixty pregnant women with GDM and 64 healthy pregnant women without GDM were included in this cross-sectional study. Blood samples were drawn from the umbilical vein following birth. Ghrelin concentrations were measured using enzyme-linked immunosorbent assay (ELISA). RESULTS: Umbilical vein ghrelin levels were decreased in women with GDM (879.6 ± 256.1 vs. 972.2 ± 233.6 pg/ml in women without GDM, p=0.033), whereas birth weights were higher for babies in the GDM than in the non-GDM group (3448 ± 410 vs. 3308 ± 365 gr, respectively, p=0.046). Umbilical ghrelin levels were inversely correlated with birth weight (r=-0.765, p<0.001). Multiple regression analysis revealed that birth weight was independently and negatively associated with umbilical ghrelin levels (ß= -2.077, 95% CI=-2.652 to -1.492, p=0.002). CONCLUSIONS: Umbilical ghrelin levels were lower in GDM women. Birth weight was inversely associated with umbilical ghrelin levels. This association may be explained by a negative feedback mechanism between ghrelin and birth weight.


Subject(s)
Birth Weight/physiology , Diabetes, Gestational/blood , Fetal Blood , Ghrelin/blood , Pregnancy/blood , Cross-Sectional Studies , Female , Humans , Infant, Newborn
3.
Paediatr Drugs ; 19(1): 53-58, 2017 Feb.
Article in English | MEDLINE | ID: mdl-27826851

ABSTRACT

AIM: We aimed to evaluate the efficacy of intravenous administration of recombinant activated factor VIIa (rFVIIa) for acute pulmonary hemorrhage treatment in very-low-birth-weight (VLBW) premature infants. PATIENTS AND METHODS: This study was carried out retrospectively in premature infants with pulmonary hemorrhage that were ≤30 weeks gestational age or <1250 g birth weight. The data of all VLBW premature infants with pulmonary hemorrhage who were hospitalized in our neonatal intensive care unit between 01 January 2013 and 31 December 2015 were evaluated. Group 1 (n = 21) received rFVIIa support within the first 30 min of pulmonary hemorrhage plus conventional treatment, while Group 2 (n = 21) received conventional treatment only. RESULTS: The number of patients whose pulmonary hemorrhage was stopped within the first 2 h was significantly higher in Group 1 than Group 2 (n = 14 vs n = 4; p = 0.002). After pulmonary hemorrhage, hemoglobin values of Group 1 were higher than Group 2 (11.12 ± 1.06 vs 10.14 ± 1.59 g/dL; p = 0.024). Erythrocyte suspension (1.43 ± 4.51 vs 5.71 ± 7.46 mL/kg; p = 0.030) and fresh frozen plasma use (5.71 ± 8.10 vs 19.52 ± 12.44 mL/kg; p < 0.001) in Group 1 were lower than those of Group 2. Prothrombin time, activated partial thromboplastin time, and international normalized ratio values in Group 1 were lower than those of Group 2 (p < 0.05). No statistically significant difference was identified in recurrence of pulmonary hemorrhage after 72 h, overall mortality, mortality from pulmonary hemorrhage, surfactant use, intubation time, hospitalization duration, intraventricular hemorrhage (IVH), severe IVH, patent ductus arteriosus rates, or short-term complication rates. CONCLUSION: rFVIIa administration was observed to be effective in stopping pulmonary hemorrhage, reducing blood product requirement, and improving coagulation test parameters. Prospective studies are needed to evaluate the efficacy, reliability, and long-term results of rFVIIa in the prevention and treatment of pulmonary hemorrhage in premature infants.


Subject(s)
Factor VIIa/therapeutic use , Hemorrhage/drug therapy , Lung Diseases/drug therapy , Acute Disease , Female , Hemorrhage/mortality , Humans , Infant, Premature , Infant, Very Low Birth Weight , Lung Diseases/mortality , Male , Premature Birth , Recombinant Proteins/therapeutic use , Recurrence , Retrospective Studies
4.
J Matern Fetal Neonatal Med ; 28(1): 33-6, 2015 Jan.
Article in English | MEDLINE | ID: mdl-24588277

ABSTRACT

OBJECTIVE: To investigate the effects of topical ointment therapy on neonatal sepsis in premature infants. METHODS: A total of 197 premature infants≤34 weeks gestation were randomized to receive topical ointment (Aquaphor Original Emollient) or routine skin care group. Skin cultures were obtained on 3th, 7th and 14th day and blood cultures were obtained if sepsis was suspected clinically. Data included the maternal and neonatal characteristics, factors affecting the risk of sepsis and neonatal outcomes of both groups were collected. RESULTS: There were no significant differences in terms of gestational age, birth weight, gender, mode of delivery, multiple pregnancy and receiving antenatal corticosteroids between the study and control group. No statistically significant difference was found in the prevalence of sepsis, in the positive skin culture rates at any follow-up and in terms of the neonatal morbidities including patent ductus arteriosus and necrotizing enterocolitis between the groups. Although the rate of death was higher in the topical ointment group, no statistically significant difference was found between the groups. CONCLUSIONS: Our data suggests that applying topical ointment during the first 2 postnatal weeks did not affect the risk of neonatal sepsis in preterm infants, although it changed the bacterial flora on the skin compare to the routine care group.


Subject(s)
Emollients , Sepsis/epidemiology , Skin/microbiology , Female , Humans , Infant, Newborn , Infant, Premature , Male , Ointments , Prevalence , Prospective Studies , Risk Factors , Turkey/epidemiology
5.
Pediatr Crit Care Med ; 15(3): 236-41, 2014 Mar.
Article in English | MEDLINE | ID: mdl-24608494

ABSTRACT

OBJECTIVE: To compare the effects and short-term outcomes of pressure support ventilation with volume guarantee versus synchronized intermittent mandatory ventilation in the weaning phase of very low-birth weight infants with respiratory distress syndrome. DESIGN: Randomized controlled prospective study. SETTING: Tertiary care neonatal unit. PATIENTS: A total of 60 premature infants who were less than 33 weeks' gestation and/or less than 1,500 g birth weight and received mechanical ventilation because of respiratory distress syndrome were studied. INTERVENTIONS: All infants were ventilated from the time of admission with synchronized intermittent positive pressure ventilation mode after surfactant treatment for respiratory distress syndrome and then switched to pressure support ventilation with volume guarantee or synchronized intermittent mandatory ventilation mode in the weaning phase. The ventilatory variables and neonatal outcomes were recorded in each group. MEASUREMENTS AND MAIN RESULTS: The mean peak inflation pressure was higher in synchronized intermittent mandatory ventilation group (p < 0.001) and the mean airway pressure was higher in pressure support ventilation with volume guarantee group (p = 0.03), whereas mean tidal volume and respiratory rates were similar in both groups. The prevalence of postextubation atelectasis was higher in synchronized intermittent mandatory ventilation group, but the difference was not statistically significant (p = 0.08). No differences were found in the prevalence of reintubation, patent ductus arteriosus, intraventricular hemorrhage, retinopathy of prematurity, bronchopulmonary dysplasia, and pneumothorax between the groups. CONCLUSIONS: Pressure support ventilation with volume guarantee mode may be a safe and feasible mode during the weaning phase of very low-birth weight infants on mechanical ventilation support for respiratory distress syndrome with respect to reducing the frequency of postextubation atelectasis and using less peak inflation pressure.


Subject(s)
Intermittent Positive-Pressure Ventilation/methods , Pulmonary Surfactants/therapeutic use , Respiration, Artificial/methods , Respiratory Distress Syndrome, Newborn/therapy , Ventilator Weaning/methods , Female , Humans , Infant , Infant, Newborn , Infant, Premature , Infant, Very Low Birth Weight , Intermittent Positive-Pressure Ventilation/adverse effects , Male , Prospective Studies , Respiration, Artificial/adverse effects , Tertiary Care Centers , Turkey , Ventilator Weaning/adverse effects
6.
J Matern Fetal Neonatal Med ; 27(5): 491-4, 2014 Mar.
Article in English | MEDLINE | ID: mdl-23805991

ABSTRACT

OBJECTIVE: To evaluate the efficacy and complications of oral and intravenous fluid therapy in newborns with hypernatremic dehydration. METHODS: A total of 75 term and near-term (>35 weeks) neonates with hypernatremic dehydration (Na ≥ 150 mmol/L) were included in this retrospective study. The patients were divided into two groups according to therapy approach for rehydration (breast milk-oral formula and intravenous fluid). The decline in sodium concentration (<0.5 mmol/L/h was regarded as safe drop) and complications were analyzed. RESULTS: The mean gestational age, birth weight and age at admission were 38.9 ± 1.4(36-42) weeks, 3341 ± 504 (2500-4500) gram and 4.3 ± 2.6 (1-17) day, respectively. Fever (61.8%) and jaundice (39.4%) were the most common presenting signs. Forty-four (58.6%) of the infants were treated with breast milk and/or oral formula (group 1) and 31 (41.4%) of the infants were treated with IV fluid (group 2). In group 1 and group 2, respectively, mean % weight loss, 5 and 7.5; median serum sodium at admission, 153 and 152 mmol/L; median change in sodium at 12 hours, 7 and 11 mmol/L; and median change in sodium at 24 hours, 10 and 15 mmol/L. The decline in sodium concentration was more safely in group 1 than group 2 at both 12 and 24 hours of rehydration. One patient had convulsion associated with cerebral edema in group 2. Otherwise no complication was observed in both groups. CONCLUSION: Enteral route for fluid replacement may be safe and effective and may be an alternative to intravenous fluid therapy in newborns with hypernatremic dehydration when clinical situation is stable.


Subject(s)
Dehydration/complications , Dehydration/therapy , Fluid Therapy/adverse effects , Fluid Therapy/methods , Hypernatremia/complications , Hypernatremia/therapy , Infant, Newborn, Diseases/therapy , Administration, Intravenous , Administration, Oral , Birth Weight , Female , Gestational Age , Humans , Infant, Newborn , Male , Retrospective Studies , Treatment Outcome
7.
J Matern Fetal Neonatal Med ; 27(9): 926-9, 2014 Jun.
Article in English | MEDLINE | ID: mdl-24047121

ABSTRACT

OBJECTIVE: To determine the effect of unsynchronized nasal intermittent positive pressure ventilation compared to continuous positive airway pressure in preterm infants after extubation. METHODS: A total of 67 premature infants who were <35 weeks gestation and/or <2000 g birth weight and received mechanical ventilation because of respiratory distress syndrome (RDS) were studied. Infants were randomized to receive either unsynchronized nasal intermittent positive pressure ventilation (NIPPV) with shortened endotracheal tube (Group 1) or nasal continuous positive airway pressure (NCPAP) with binasal prongs (Group 2) after extubation. Extubation failure and neonatal outcomes were recorded in each group. RESULTS: There were no significant differences in clinical characteristics between the two groups. The prevalence of re-intubation and post-extubation atelectasis were higher in CPAP group (p = 0.03 and p = 0.01). No differences were observed in the prevalence of IVH, ROP, PDA, NEC, sepsis, pneumothorax, BPD and BPD/death between the groups while the mortality was higher in NCPAP group (p < 0.01). Neither procedure had any serious side effects such as intestinal perforation. CONCLUSION: NIPPV (although non-synchronized and delivered by single nasal prong) had a better effect than NCPAP after extubation of preterm infants on mechanical ventilation in respect to reducing the prevalence of post-extubation atelectasis, re-intubation and also death.


Subject(s)
Airway Extubation , Continuous Positive Airway Pressure , Infant, Premature, Diseases/therapy , Infant, Premature , Intermittent Positive-Pressure Ventilation , Respiratory Distress Syndrome, Newborn/therapy , Birth Weight , Continuous Positive Airway Pressure/adverse effects , Epistaxis/epidemiology , Epistaxis/etiology , Female , Gestational Age , Humans , Infant, Newborn , Infant, Premature, Diseases/epidemiology , Intermittent Positive-Pressure Ventilation/adverse effects , Male , Nose Diseases/epidemiology , Nose Diseases/etiology , Respiratory Distress Syndrome, Newborn/epidemiology , Ventilator Weaning/methods
8.
Turk J Pediatr ; 56(5): 532-4, 2014.
Article in English | MEDLINE | ID: mdl-26022590

ABSTRACT

Herbal agents are increasingly used for medicinal purposes, but there is a lack of knowledge about the content of these agents. Indiscriminate use of herbal agents may cause severe side effects and also death. We report a newborn who developed convulsions and respiratory arrest after oral intake of an opium poppy preparation containing papaverine for its antitussive effect. The infant experienced a good outcome with supportive treatment. To the best of our knowledge, this is the first time a newborn with papaverine intoxication has been described. Parents should avoid self-medication of their children, and the possibility of exposure to foreign products should be kept in mind in any seizure of a newborn with unexplained origin.


Subject(s)
Papaverine/poisoning , Seizures/chemically induced , Electroencephalography , Female , Humans , Infant, Newborn , Seizures/diagnosis , Vasodilator Agents/poisoning
9.
Pediatr Radiol ; 43(11): 1475-84, 2013 Nov.
Article in English | MEDLINE | ID: mdl-23917587

ABSTRACT

BACKGROUND: Ultrasonographic measurement of kidney dimensions is important in evaluation of renal disease in preterm infants who have multiple comorbidities that affect renal function. OBJECTIVE: The purpose of this study was to determine the reference ranges of kidney dimensions in preterm newborns and to provide a chart to use easily in daily practice. MATERIALS AND METHODS: We evaluated renal dimensions in 498 preterm infants with a gestational age of <37 weeks using sonography within the first week of life. We statistically analyzed the relationships between all dimensions and gender, gestational age (based on the last menstrual period), height and weight. Minimum and maximum values of dimensions were defined. RESULTS: All dimensions of the kidneys were statistically different in boys and girls (P < 0.05). Both longitudinal and anteroposterior dimensions of the right and left kidneys showed high correlation with gestational age, weight and height in girls and boys. Weight correlated best with dimensions. CONCLUSION: Nomograms from these data can be used to determine an abnormality in kidneys of preterm newborns.


Subject(s)
Infant, Premature , Kidney/diagnostic imaging , Ultrasonography/statistics & numerical data , Ultrasonography/standards , Female , Humans , Infant, Newborn , Male , Organ Size , Reference Values , Reproducibility of Results , Sensitivity and Specificity , Turkey/epidemiology
10.
Pediatr Radiol ; 43(11): 1464-74, 2013 Nov.
Article in English | MEDLINE | ID: mdl-23955367

ABSTRACT

BACKGROUND: Preterm infants usually have multiple comorbidities that affect spleen and liver. Ultrasonographic measurement of organ sizes is an important and reliable parameter in evaluation of spleen and liver pathology in preterm newborns. OBJECTIVE: The purpose of this study was to determine reference values of ultrasonographic measurements of the liver and spleen in preterm newborns. MATERIALS AND METHODS: We prospectively performed sonography on 498 preterm newborns in the first week of life. We measured spleen and liver dimensions and statistically analyzed relationships between the dimensions and gender, gestational age (based on mother's last menstrual period), height and weight. Reference ranges of dimensions were defined. RESULTS: Longitudinal and anteroposterior dimensions of the liver and spleen were statistically significantly different between the boys and girls (P < 0.05) and showed high correlation with the gestational age, weight and height. Weight was the parameter best correlated with the dimensions. CONCLUSION: Nomograms from these data are useful for sonographic evaluation of the liver and spleen in preterm newborns.


Subject(s)
Infant, Premature , Liver/diagnostic imaging , Spleen/diagnostic imaging , Ultrasonography/statistics & numerical data , Ultrasonography/standards , Female , Humans , Infant, Newborn , Male , Organ Size , Reference Values , Reproducibility of Results , Sensitivity and Specificity , Turkey/epidemiology
11.
Pediatr Int ; 55(4): 516-8, 2013 Aug.
Article in English | MEDLINE | ID: mdl-23910802

ABSTRACT

Brain abscesses are uncommon complications of bacterial meningitis or sepsis in neonates and infants. The causative pathogens of brain abscess in newborns are various. Of those, Escherichia coli is rarely seen as a pathogen in brain abscess at this age. Herein we reported brain abscesses in twin infants caused by E. coli sepsis. Interestingly, genetic analysis identified heterozygous Toll-like receptor 4 (TLR4) gene mutation in the twins. Because TLR plays an important role in the natural response to bacterial products and initiates specific immune response against these pathogens, this may explain the development of brain abscess in the present case.


Subject(s)
Brain Abscess/genetics , DNA/genetics , Diseases in Twins , Escherichia coli Infections/genetics , Escherichia coli/isolation & purification , Mutation , Toll-Like Receptor 4/genetics , Brain Abscess/metabolism , Brain Abscess/microbiology , Escherichia coli Infections/metabolism , Escherichia coli Infections/microbiology , Humans , Infant, Newborn , Male , Toll-Like Receptor 4/metabolism
12.
J Matern Fetal Neonatal Med ; 26(18): 1833-7, 2013 Dec.
Article in English | MEDLINE | ID: mdl-23611481

ABSTRACT

OBJECTIVE: To investigate the relation between serum homocysteine levels and intraventricular hemorrhage (IVH) in preterm infants born to preeclamptic mothers. METHOD: This study included 84 preterm infants (42 born to preeclamptic mothers and 42 born to normotensive healthy mothers) who were admitted to Izmir Tepecik Training and Research Hospital Neonatology Clinic on the postnatal first day. The measurement of homocysteine levels in all samples were performed with an Immulite 2000 analyzer, using the chemiluminescence method. Cranial ultrasounds were performed on the fourth day and in the 1 month of age. RESULTS: The mean plasma levels of homocysteine in infants born to preeclamptic mothers and in the control group were 8.2 ± 5.9 µmol/L and 5.3 ± 2.7 µmol/L, respectively. The plasma levels of homocysteine were significantly higher in the study group (p = 0.006). There was no association between the plasma homocysteine levels and IVH or other neonatal complications including necrotizing enterocolitis, retinopathy of prematurity, bronchopulmonary dysplasia and mortality. CONCLUSION: Our data suggest that plasma levels of homocysteine are higher among infants born to preeclamptic mothers, but these high levels are not associated with IVH and other neonatal complications in preterm infants.


Subject(s)
Cerebral Hemorrhage/blood , Homocysteine/blood , Infant, Premature, Diseases/blood , Infant, Premature/blood , Pre-Eclampsia , Case-Control Studies , Cerebral Hemorrhage/epidemiology , Female , Gestational Age , Humans , Infant Mortality , Infant, Newborn , Infant, Premature, Diseases/epidemiology , Male , Pre-Eclampsia/blood , Pre-Eclampsia/epidemiology , Pregnancy , Turkey/epidemiology
13.
Fetal Pediatr Pathol ; 32(5): 337-40, 2013 Oct.
Article in English | MEDLINE | ID: mdl-23421547

ABSTRACT

A case of neonatal cholestasis associated with Trisomy 18 (Edward's syndrome) is presented. A 3-day-old boy was referred to our clinic due to respiratory distress, elevated serum direct bilirubin levels, a systolic heart murmur, growth restriction and micrognathia. Liver biopsy and chromosomal analysis revealed paucity of intrahepatic bile ducts and Trisomy 18. Extrahepatic biliary atresia was reported in only a few patients with Trisomy 18. To our knowledge, we described for the first time a patient with Trisomy 18 and neonatal cholestasis associated with paucity of interlobular bile ducts.


Subject(s)
Bile Ducts, Intrahepatic/abnormalities , Trisomy/pathology , Cholestasis, Intrahepatic/genetics , Cholestasis, Intrahepatic/pathology , Chromosomes, Human, Pair 18 , Consanguinity , Fatal Outcome , Humans , Infant, Newborn , Male , Trisomy 18 Syndrome
14.
J Matern Fetal Neonatal Med ; 26(11): 1143-6, 2013 Jul.
Article in English | MEDLINE | ID: mdl-23356530

ABSTRACT

OBJECTIVE: Preeclampsia may result in uteroplacental insufficiency and chronic intrauterine fetal distress. The aim of this study is to address this issue investigating neuronal apoptosis in an experimental model of preeclampsia and to evaluate the neurological outcome of the perinatal asphyxia in the neonates born to preeclamptic mother. MATERIALS AND METHODS: Two out of four pregnant Sprague-Dawley rats (preeclamptic group) were given water containing 1.8% NaCl on gestation day 15 and 22 in order to establish the model of preeclampsia whereas other two (non-preeclamptic group) received normal diet. A model of perinatal asphyxia was established on the postnatal 7th day to one preeclamptic and one non-preeclamptic dam. Overall 23 pups born to overall four dams were decapitated to assess neuronal apoptosis by the TUNEL assay. RESULTS: The number of apoptotic neuronal cells was significantly higher in the preeclampsia groups in comparison with the control group (p = 0.006 and p = 0.006, respectively). It was also significantly higher in the asphyctic/non-preeclamptic group than the count in the control group (p = 0.01). There was also significant difference between both asphyctic groups (p = 0.003). CONCLUSION: We conclude that preeclampsia causes small babies for the gestational age and cerebral hypoplasia. Both preeclampsia and perinatal asphyxia can cause increased neuronal apoptosis in the neonatal brains. However, the prognosis for neurological outcome is much worse when the perinatal asphyxia occurs in newborns born to preeclamptic mothers.


Subject(s)
Apoptosis/physiology , Neurons/pathology , Neurons/physiology , Pre-Eclampsia/pathology , Pre-Eclampsia/physiopathology , Animals , Animals, Newborn , Asphyxia/pathology , Asphyxia/physiopathology , Brain/pathology , Brain/physiology , Female , Male , Mothers , Pregnancy , Rats , Rats, Sprague-Dawley
15.
Congenit Anom (Kyoto) ; 52(1): 59-61, 2012 Mar.
Article in English | MEDLINE | ID: mdl-21039912

ABSTRACT

Amniotic band sequence (ABS) is a rare cause of fetal disruptions associated with fibrous bands that entrap various fetal parts in utero and lead to abnormalities. Fetal disruptions of ABS are influenced by the timing of the amnion rupture and the site of amnion adherence. Herein we report an extreme case of ABS presented with dysmorphic face, amputation of four extremities and fusion of legs and genitalia with a fibrotic band. This is an extreme case of ABS characterized by an unusual combination of multiple fetal anomalies.


Subject(s)
Amniotic Band Syndrome/diagnosis , Arm/abnormalities , Leg/abnormalities , Abnormalities, Multiple/diagnosis , Amniotic Band Syndrome/physiopathology , Face/abnormalities , Fatal Outcome , Humans , Infant, Newborn , Male
16.
Clin Dysmorphol ; 20(4): 187-189, 2011 Oct.
Article in English | MEDLINE | ID: mdl-21691203

ABSTRACT

Crisponi syndrome is a recently described rare autosomal recessive disorder. The main clinical features of the syndrome are neonatal onset of episodic contractions of the facial muscles with trismus and abundant salivation resembling a tetanic spasm. Herein, we report a case of 3-day-old male neonate presenting with trismus, abundant salivation, feeding difficulties, camptodactyly, and hyperthermia, which are consistent with the diagnostic criteria of Crisponi syndrome. The parents of the patient were consanguineous, supporting autosomal recessive inheritance. Molecular analysis revealed a homozygous mutation in cytokine receptor-like factor-1 gene in the patient.


Subject(s)
Fever/genetics , Frameshift Mutation/genetics , Hand Deformities, Congenital/genetics , Homozygote , Receptors, Cytokine/genetics , Trismus/congenital , Death, Sudden , Exons , Facies , Fever/diagnosis , Hand Deformities, Congenital/diagnosis , Humans , Hyperhidrosis , Infant, Newborn , Male , Muscle Contraction/genetics , Phenotype , Trismus/diagnosis , Trismus/genetics , Turkey
17.
Pediatr Hematol Oncol ; 27(8): 646-9, 2010 Nov.
Article in English | MEDLINE | ID: mdl-20863163

ABSTRACT

Reticular dysgenesis (RD) is a rare congenital immunodeficiency classified within the severe combined immunodeficiencies (SCIDs) and characterized by impairment of both lymphoid and myeloid cell development. Neutropenia unresponsive to recombinant human granulocyte colony-stimulating factor (rGCSF) is the hallmark of RD and the clinical course is rapidly fatal due to overwhelming infections. The authors report a female newborn at 32 weeks of gestation presenting with severe leukopenia at birth. The bone marrow showed a maturation arrest in the myeloid and lymphoid lineage. She had no response to granulocyte colony stimulating factor (rGCSF) treatment and died with sepsis at age of 2 months.


Subject(s)
Leukopenia , Severe Combined Immunodeficiency , Bone Marrow Transplantation , Fatal Outcome , Female , Granulocyte Colony-Stimulating Factor/therapeutic use , Humans , Infant , Leukopenia/diagnosis , Leukopenia/therapy , Severe Combined Immunodeficiency/diagnosis , Severe Combined Immunodeficiency/therapy
18.
Scand J Infect Dis ; 42(1): 39-42, 2010.
Article in English | MEDLINE | ID: mdl-20055726

ABSTRACT

Macrophage activation by interferon-gamma (IFN-gamma) is important in host resistance to tuberculosis (TB). In this study, the relationships of the +874 T/A polymorphism in the first intron of the IFN-gamma gene and intronic (CA)n polymorphic microsatellite marker of the interferon-gamma receptor 1 (IFN-gammaR1) gene to TB susceptibility were investigated in children. Forty children with TB and 67 age-matched controls were included. There were no significant differences between the allele frequencies and genotype frequencies of patient and control groups for the polymorphism +874 T/A in the IFN-gamma gene. Differences that were not statistically significant were found between the group of children with TB and the control group for the allelic markers (170 and 180) in the IFN-gammaR1 gene. The incidence of the allele 170 was higher in patients (30.9%) than in controls (17.4%), whereas the allele 180 was found to be more common in controls (9% vs 1.2%). In conclusion, no significant association was observed between the +874 T/A polymorphism found in the first exon of the IFN-gamma gene and TB susceptibility in Turkish children.


Subject(s)
Interferon-gamma/genetics , Polymorphism, Genetic , Receptors, Interferon/genetics , Tuberculosis/genetics , Case-Control Studies , Child , Child, Preschool , Female , Gene Frequency , Genotype , Humans , Male , Turkey , Interferon gamma Receptor
19.
Pediatr Emerg Care ; 22(4): 230-4, 2006 Apr.
Article in English | MEDLINE | ID: mdl-16651911

ABSTRACT

OBJECTIVES: An agreement among physician, nurse, and family on the issue and a solution developed by all will improve the quality of work. The aims of this study were to determine health care professionals' (physicians and nurses) attitude toward parental presence during invasive procedures and toward parental participation in this decision and to investigate the difference between the approach of physicians and nurses. METHODS: This study was performed on the physicians and nurses of the Medical Faculty of the Department of Pediatrics of Ege University between December 2003 and March 2004. The questionnaire delivered was completed by 49 (94%) of 52 nurses and 51 (89%) of 57 physicians. RESULTS: Parental presence during blood sampling, simple wound repair/suture, lumbar puncture, and bone marrow aspiration/biopsy was approved by 72.5%, 27.5%, 66.7%, and 82.4% of the physicians and 53.1%, 57.1%, 81.6%, and 85.7% of the nurses, respectively. None of the health care professionals preferred parents to attend during any kind of resuscitation. Attitudes of the nurses and physicians were found to be similar between the 2 groups except for simple wound repair. Major determinants of the decision about the agreement for parental presence were procedural invasiveness for physicians (reported by 82.5%) and level of sedation for nurses (reported by 75.5%). The mean ages of both groups of health care professionals who did not approve parental presence during invasive procedures were lower than that of the ones who approved for all procedures. CONCLUSION: The physicians and nurses in the study population tended to prefer parents not to be present during procedures as the level of invasiveness increased. An agreement between the attitudes of physicians and nurses toward parental presence during invasive procedures is essential for improving quality of service, especially in the dynamic environment of the emergency department.


Subject(s)
Attitude of Health Personnel , Emergency Medicine/statistics & numerical data , Emergency Nursing/statistics & numerical data , Parents , Pediatrics/statistics & numerical data , Professional-Family Relations , Adult , Age Factors , Analgesia/nursing , Child , Conscious Sedation/nursing , Decision Making , Emergency Medicine/methods , Emergency Nursing/methods , Female , Health Care Surveys , Humans , Logistic Models , Male , Resuscitation/nursing , Socioeconomic Factors , Turkey
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