Do Gene Polymorphisms Play a Role in Newborn Hyperbilirubinemia?

Objectives: Polymorphisms of the uridine-diphospho-glucuronosyltransferase 1A1 (UGT1A1) gene, hepatic solute carrier organic anion transporter 1B1/B3 (SLCO1B1/3) gene, and glutathione S-transferase (GST) gene have been associated with significant hyperbilirubinemia in some populations. This study aims to determine whether the variation of UGT1A1, SLCO1B1/3 and GST genes play an important role in neonatal hyperbilirubinemia in Turkish newborn infants. Methods: The study included 61 idiopathic hyperbilirubinemia cases, 28 prolonged jaundice cases, and 41 controls. Ten common polymorphisms in four genes involved in bilirubin metabolism were examined. Polymerase chain reaction-restriction fragment length polymorphism method was used to detect variants of those genes. Results: No association was found between the variants of UGT1A1 at nt 211, the SLCO1B1 gene at nt 388, 463, 521, 1463, the SLCO1B3 gene at nt 334, 727+118, 1865+19721, and the GST gene at nt 313, 341, and neonatal hyperbilirubinemia. There was no difference between the case and control groups in terms of allele frequencies of these genes (except SLCO1B3 at nt 334) (p>0.05 in all comparisons). The presence of the G allele of the SLCO1B3 at nt 334 variant gene seemed to protect from jaundice in infants with idiopathic hyperbilirubinemia. Conclusion: These gene polymorphisms currently studied do not seem to modulate the risk of hyperbilirubinemia in Turkish newborn infants.

[Investigation of parameters related to prognosis in diffuse parenchymal lung diseases prognosis in interstitial lung diseases]. / Difüz parankimal akciger hastaliklarinda prognozla iliskili parametrelerin arastirilmasi.

INTRODUCTION: Parameters related to prognosis in diffuse parenchymal lung disease (DPLD) have a decisive influence on treatment and follow-up processes. We aimed to define baseline characteristics and factors that effect the mortality of the group of patients with DPLD and to determine distinctions between subgroups. MATERIALS AND METHODS: Demographic characteristics, complaints, comorbidity, treatment, pulmonary function tests, echocardiographic findings, six minute walking test (6MWT), arterial blood gases analysis, radiological findings and survival time were collected from outpatient clinics database. Patients' survival time and mortality-related parameters were evaluated. RESULT: This study consisted of 104 patients. Forty-four of them idiopathic pulmonary fibrosis (IPF), 34 scleroderma and 26 rheumatoid arthiritis (RA) with lung involvement. Mortality rates were similar for the groups but median survival was shorter in patients with IPF than scleroderma and RA (IPF: 35.1 ± 22.4 months, scleroderma: 61.1 ± 27.9 months, RA: 60.0 ± 52.1 months; p= 0.001, p= 0.016 respectively). Mortality was higher in patients who are > 60 years old (24/64 vs. 5/40, p= 0.007), had chronic obstructive pulmonary disease (COPD) (5/7 vs. 24/97, p= 0.017), gastroesophageal reflux (7/13 vs. 22/91 p= 0.043) and usual interstitial pattern (11/48 vs. 18/56, p= 0.054), low PaO2 (< 60 mmHg) at admission (6/8 vs. 8/32, p= 0.014), desaturation on 6MWT (13/28 vs. 1/18, p= 0.003), high reduction of DLCO/year (6/10 vs. 4/33, p= 0.023). COPD and 6 minute walking distance (6MWD) were found as independently related factors for mortality (p= 0.013, p= 0.02) for whole group. CONCLUSIONS: As a result, 6MWD and COPD were found as independently related factors for mortality for all patients. In subgroup analysis for IPF, scleroderma, and RA; 6MWD is only independent factor for mortality.

Treacher Collins syndrome with multiple congenital heart defects after paroxetine exposure: case report.

Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development with an incidence of I in 40,000 to in 70,000 live births. It is characterized by abnormalities of the pinnae which are frequently associated with atresia of the external auditory canals and anomalies of the middle ear ossicles. Rarely congenital heart defects can be present. Prenatal paroxetine exposure may enhance the risks of major malformation, particularly cardiac defects. This article reports a newborn, whose mother used paroxetine during pregnancy, presenting with multiple congenital heart defects associated to typical physical characteristics of Treacher Collins syndrome.

A novel mutation of laminin ß-2 gene in Pierson syndrome manifested with nephrotic syndrome in the early neonatal period.

Pierson syndrome is a rare autosomal recessive disorder which is mainly characterized by congenital nephrotic syndrome (CNS), diffuse mesangial sclerosis (DMS) and distinct ocular abnormalities, including microcoria. Most affected children exhibit early onset of chronic renal failure, neurodevelopmental deficits, and blindness. It is caused by a homozygous or compound heterozygous mutation in the gene encoding laminin beta2 (LAMB2) on chromosome 3p21. In this article, we report on a patient with CNS, bilateral megalocornea and microcoria. The patient had developed renal failure at very early postnatal period and died of septic shock. A novel homozygous donor splice mutation (IVS4 + 2T > C) in LAMB2 gene was identified in the patient.

Crisponi syndrome: a new mutation in CRLF1 gene associated with moderate outcome.

SUMMARY: Crisponi syndrome (CS) is a rare, autosomal recessive disorder, characterized by hyperthermia, extensive muscular contractions in the face after even minimal stimuli or crying, hypertonia, opisthotonus, camptodactyly, and typical facial features. Recently, it has been demonstrated that CRLF1 (cytokine receptor-like factor 1) gene mutation is associated with CS. Here we report a case of CS with a new mutation in the CRLF1 gene associated with moderate clinical phenotype.

Papillorenal syndrome with de novo reciprocal translocation t(2;15) (q31; q26).

Renal hypoplasia is a congenital anomaly, the etiology of which is not yet fully known. Genetic studies have shown that certain genes, in utero environmental factors and molecular mechanisms have a role in the identification ofnephron formation and kidney size. The coexistence of bilateral renal hypoplasia and optic disc coloboma is observed in papillorenal syndrome, which caused by the mutation of the PAX2 gene. In the case presented in this article, bilateral renal hypoplasia and optic disc coloboma have been detected to coexist. The analysis of the PAX2 gene, which was carried out with an eye to the papillorenal syndrome, did not reveal any mutations. However, de novo t(2;15) (q31; q26) (reciprocal translocation) was detected in chromosome analysis. As far as we know, there are not any publications focusing on the clinical importance of this type of translocation. In cases with renal hypoplasia and optic disc coloboma, the possibility of a de novo translocation between chromosomes 2 and 15 should be considered.

A novel WT1 gene mutation in a newborn infant diagnosed with Denys-Drash syndrome.

Denys-Drash syndrome (DDS) is a rare disorder characterized by glomerulopathy, genital abnormalities and predisposition to Wilms' tumor. It is associated with constitutional Wilms'tumor suppressor 1 (WT1) gene mutations, in which the majority being missense mutations in the zinc-finger region. Here, we present a newborn with DDS, associated with a novel heterozygous missense mutation, p.Asp396His, on exon 9 of WT1.

Spectrum of Brevundimonas vesicularis infections in neonatal period: a case series at a tertiary referral center.

OBJECTIVES: To report infections caused by Brevundimonas vesicularis and the treatment regimens administered based on antibiotic studies of this Gram-negative bacterium in the neonatal period. PATIENTS AND METHODS: Eight hospitalized neonates with positive blood cultures for Brevundimonas spp. were studied. Demographic data, clinical and laboratory findings, nutritional regimens, presence of primary disease, and the antibiotic regimens administered during the treatment of these neonates were noted. Antimicrobial susceptibility tests were performed on isolates of the positive cultures. RESULT: Four neonates were preterm, and four were full-term infants. The underlying diseases--with the exception of being a neonate--were congenital heart disease (4 patients), respiratory distress syndrome (2), multiple congenital cerebral anomalies (1), and meconium aspiration syndrome (1). Septicemia was observed in all eight patients, while three also had concurrent meningitis. Multidrug resistance to the antimicrobials, including piperacillin-tazobactam, ceftazidime, and aztreonam, were identified in all eight infants; however, susceptibility to amikacin and imipenem was retained. All study patients responded to the antibiotic treatments and subsequent cultures were sterile. One patient died due to other causes. CONCLUSIONS: We consider that until larger series are available, B. vesicularis should be regarded as virulent. Consequently, in this era of multi-resistant Gram-negative bacteria, serious B. vesicularis infections in neonates should be treated with a broad-spectrum agent, such as third-generation cephalosporin until the results of susceptibility testing are available. Our case reports demonstrate that the susceptibility of this organism to all aminoglycosides and third-generation cephalosporin is not uniform, but that most of the isolates are susceptible to imipenem. More treatment experience and more exact results from antimicrobial susceptibility testing are required to improve on present treatment regimens for invasive B. vesicularis infections.

The effects of hyperbaric oxygen treatment on the healing of tracheal anastomosis following irradiation in rats.

BACKGROUND: After tracheal resection and end-to-end anastomosis, granulation tissue formation and stenosis along the anastomotic line are major problems. This experimental study in rats evaluated the effects of hyperbaric oxygen therapy on the healing of tracheal anastomosis after irradiation. METHODS: Forty-four rats were divided into four groups: Group I (n = 12) underwent tracheal anastomosis after irradiation (30 Gy) and received hyperbaric oxygen treatment; Group II (n = 12) underwent tracheal anastomosis and received hyperbaric oxygen treatment; Group III (n = 11) underwent tracheal anastomosis after irradiation (30 Gy); and Group IV (n = 9) underwent only tracheal anastomosis. Hyperbaric oxygen treatment was administered at 2.5 atmospheres of absolute pressure once a day for 1 week. The rats were sacrificed 28 days after tracheal anastomosis. The cross-sectional area (CSA) of the tracheal lumen was compared between groups. Inflammation, fibrosis, epithelization, alveolar congestion and alveolar hemorrhage were evaluated by histological analysis. RESULTS: The rats in all groups survived the study period, except for two in Group III which died from anastomotic dehiscence. Macroscopically, rats in the hyperbaric oxygen therapy groups showed excellent healing at the anastomosis. In these groups, CSA scores and epithelization were higher than in the other groups. There was local necrosis at the anastomosis in 3 rats in Group III. Fibrosis and alveolar congestion observed in Groups III and IV were significantly higher than in Groups I and II. CONCLUSION: This study suggests that hyperbaric oxygen treatment contributes to the healing of tracheal anastomosis following irradiation and may be a useful supportive treatment after tracheal resection and end-to-end anastomosis.

An uncommon association of vacterl complex with hypertrophic pyloric stenosis and horseshoe lung.

We report a case of VACTERL complex which had concomitant horseshoe lung, laryngeal cleft, and hypertrophic pyloric stenosis, which has not been previously reported.

A linear fracture and meningitis associated with non-infected cephalohematoma in a neonate.

We present a neonate with cephalohematoma complicated by a linear skull fracture and Staphylococcus epidermidis meningitis. Clinicians, especially neonatologists, should be aware that a cephalohematoma in the newborn infant with a history of vacuum-assisted delivery could be the origin or trigger point of the infection either as sepsis, meningitis or osteomyelitis. The utmost importance of screening studies should be emphasized in order to be aware of the pathogenic potential of cephalohematomas.