• Clinical and Experimental Pediatrics
• /
• v.53 no.3
• /
• pp.349-357
• /
• 2010

Purpose : Transient tachypnea of the newborn (TTN) is usually benign and improves within 72 hours. However, it can also progress to prolonged tachypnea over 72 hours, profound hypoxemia, respiratory failure, and even death. The aim of this study is to find predictable risk factors and describe the clinical courses and outcomes of prolonged TTN (PTTN). Methods : The medical records of 107 newborns, >$35^{+0}$ weeks of gestational age with TTN, who were admitted to the NICU at Seoul Asan Medical Center from January 2001 to September 2007 were reviewed. They were divided into 2 groups based on duration of tachypnea. PTTN was defined as tachypnea ${\geq}72$ hours of age, and simple TTN (STTN) as tachypnea <72 hours of age. We randomly selected 126 healthy-term newborns as controls. We evaluated neonatal and maternal demographic findings, and various clinical factors. Results : Fifty-five infants (51%) with total TTN were PTTN. PTTN infants had grunting, tachypnea >90/min, $FiO_2$ >0.4, and required ventilator care more frequently than STTN infants. PTTN had lower level of serum total protein and albumin than STTN. The independent predictable risk factors for PTTN were grunting, maximal respiration rate >90/min, and $FiO_2$ >0.4 within 6 hours of life. Conclusion : When a newborn has grunting, respiration rate >90/min, and oxygen requirement >0.4 of $FiO_2$ within 6 hours of life, the infant is at high risk of having persistent tachypnea ${\geq}72$ hours. We need further study to find the way to reduce PTTN.

• Neonatal Medicine
• /
• v.25 no.2
• /
• pp.66-71
• /
• 2018

Purpose: Respiratory morbidity is the most common problem among neonates admitted to neonatal intensive care units. Therefore, the aim of this study was to make a differential diagnosis between transient tachypnea of the newborn (TTN), respiratory distress syndrome (RDS), and pneumonia through comparison of clinical features and test results. Methods: This retrospective study was conducted in 86 infants with TTN, RDS, or pneumonia. These were infants who had respiratory distress, were born after ${\geq}34$ weeks of gestation, and transferred to the neonatal intensive care unit of Kosin University Gospel Hospital between June 1, 2011 and June 30, 2016. Results: The numbers (percentage) of infants with TTN, RDS, and pneumonia were 51 (59.3%), 20 (23.3%), and 15 (17.4%), respectively. Late-preterm and early-term newborns accounted for 65.1% of the infants. Tachypnea was observed in 74.4% of the neonates. The median age at admission was 4 hours (0 to 116) after birth. The infants with RDS had significantly lower birth weights, pH levels, base excess and oxygen saturation levels at admission, longer duration of total ventilator therapy, and hospital stay than those in the other two groups. The infants with pneumonia showed significantly high initial high-sensitivity C-reactive protein levels and significant chest radiographic findings. Conclusion: Early differential diagnosis for TTN, RDS, and pneumonia is challenging because they show similar respiratory symptoms at an early stage. Clinical features and test results can be used to determine the etiology of respiratory distress and early antibiotic treatment.

• Journal of Life Science
• /
• v.31 no.10
• /
• pp.913-921
• /
• 2021

Limb-girdle muscular dystrophy (LGMD) which is characterized by progressive muscle weakening of the hip and shoulder shows both dominant and recessive inheritances with many pathogenic genes including TTN. This study performed to identify genetic causes of a male patient with late onset (45 years old) autosomal recessive LGMD and atrial flutter. By application of the whole exome sequencing, we identified bi-allelic variants of TTN gene in the patient. One allele had a single missense variant of [c.24124G>T (p.V8042F)], while the other allele consisted of three missense variants of [c.29222G>C (p.R9741P) + c.67490A>G (p.H22497R) + c.75376C>T (p.R25126C)]. The p.V8042F allele was transmitted from his mother, while the other haplotype allele was putatively transmitted from his father. His two unaffected sons had only the p.R9741P. These variants have been not reported or rarely reported in the public human genome databases (1,000 Genome, gnomAD, and KRGDB). Most variants were located in the highly conserved immunoglobulin or fibronectin domains and were predicted to be pathogenic by the in silico analyses. The TTN giant protein plays a key role in muscle assembly, force transmission at the Z-line, and maintenance of resting tension in the I-band. In conclusion, we think that these bi-allelic compound heterozygous mutations may play a role as the genetic causes of the LGMD phenotype.

• Journal of the Korean Chemical Society
• /
• v.26 no.5
• /
• pp.310-319
• /
• 1982

Cobalt(III) complexes with sexidentate ligands, N,N,N',N'-tetrakis(2-amino-ethyl)-1,2-ethanediamine (ten), -1,3-propanediamine (ttn), -1,4-butanediamine (ttmd), -(R,R)-and -(R,S)-2,4-pentanediamine (tptn) were prepared, and the characterization of d-d absorption band on the variation of chelate ring size and conformation of these complexes were studied by means of electronic spectra. The first d-d absorption bands of $[Co(L)]^{3+}$ complexes are shifted to smaller wave numbers in the order. ttn > (R,R)-tptn > ten > ttmd${\simeq}$(R,S)-tptn for (L). The UV, $^{13}C$ NMR, and Circular Dichroism studies indicate that the R,S-tptn ligand of $[Co(R,S-tptn)]^{3+}$ complex coodinates to cobalt(Ⅲ) ion as a sexidentate with one methyl group in axial position.

• Clinical and Experimental Pediatrics
• /
• v.53 no.1
• /
• pp.1-6
• /
• 2010

Transient tachypnea of the newborn (TTN), respiratory distress syndrome (RDS), and persistent pulmonary hypertension of the newborn (PPHN) are the three most common disorders that cause respiratory distress after birth. An understanding of the pathophysiology of these disorders and the development of effective therapeutic strategies is required to control these conditions. Here, we review recent papers on the pathogenesis and treatment of neonatal respiratory disease.

• Journal of Yeungnam Medical Science
• /
• v.31 no.2
• /
• pp.89-93
• /
• 2014

Background: This study was conducted to investigate the epidemiological features, clinical courses, and diagnoses of neonates who are transferred to neonatal intensive care unit of Yeungnam University Hospital due to tachypnea soon after birth. Methods: Based on medical records, we performed a retrospective study of neonatal intensive care unit admissions due to tachypnea from January 2010 to December 2013. Results: A total of 311 neonates were included in this study. The patient characteristics showed male predominance at 2.65:1. Among the 311 neonates with tachypnea, 127 (40.8%) neonates needed oxygen supply, and 54 (17.4%) neonates needed assisted mechanical ventilation. Transient tachypnea of the newborns (TTN) (158, 50.8%) showed the highest incidence, followed by pneumonia (63, 20.3%), extrapulmonary infection (37, 11.9%), respiratory distress syndrome (21, 6.8%), air leak (16, 5.1%), meconium aspiration syndrome (12, 3.9%), congenital heart disease (5, 1.6%), metabolic acidosis (3, 1%), primary pulmonary hypertension of newborns (2, 0.6%) and anemia (2, 0.6%). Conclusion: Although the neonates with tachypnea showed no other respiratory distress symptom, clinicians should be aware of the possibility of other pulmonary diseases as well as TTN and their extra-pulmonary causes. If tachypnea does not improve within a few hours, the clinician should consider further evaluation and management as soon as possible.

• Genomics & Informatics
• /
• v.11 no.4
• /
• pp.239-244
• /
• 2013

Somatic mutation is a major cause of cancer progression and varied responses of tumors against anticancer agents. Thus, we must obtain and characterize genome-wide mutational profiles in individual cancer subtypes. The Cancer Genome Atlas database includes large amounts of sequencing and omics data generated from diverse human cancer tissues. In the present study, we integrated and analyzed the exome sequencing data from ~3,000 tissue samples and summarized the major mutant genes in each of the diverse cancer subtypes and stages. Mutations were observed in most human genes (~23,000 genes) with low frequency from an analysis of 11 major cancer subtypes. The majority of tissue samples harbored 20-80 different mutant genes, on average. Lung cancer samples showed a greater number of mutations in diverse genes than other cancer subtypes. Only a few genes were mutated with over 5% frequency in tissue samples. Interestingly, mutation frequency was generally similar between non-metastatic and metastastic samples in most cancer subtypes. Among the 12 major mutations, the TP53, USH2A, TTN, and MUC16 genes were found to be frequent in most cancer types, while BRAF, FRG1B, PBRM1, and VHL showed lineage-specific mutation patterns. The present study provides a useful resource to understand the broad spectrum of mutation frequencies in various cancer types.

• Neonatal Medicine
• /
• v.18 no.2
• /
• pp.257-264
• /
• 2011

Purpose: The development of postnatal pneumothorax and its common causes and clinical aspects were studied to promote early diagnosis and proper management. Methods: A retrospective study of neonates who were hospitalized in the neonatal intensive care unit at Soonchunhyang University Bucheon Hospital from 2001 to 2010 was performed. Term neonates were divided into a spontaneous pneumothorax group and a secondary pneumothorax group. The secondary group was divided into term and preterm groups. Results: Of 4,414 inpatients, 57 (1.3%) were diagnosed with pneumothorax. Of term newborn patients, 28 (80%) had a secondary pneumothorax, and seven (20%) had a spontaneous pneumothorax. No differences were observed for gender, birth weight, resuscitation, or duration of admission between the spontaneous and control groups. The duration of treatment with a thoracostomy (20 patients, 57%) was longer in the spontaneous group (5.4${\pm}$2.9 days vs. 2.7${\pm}$2.0 days) than that in the control group. Patients with respiratory distress syndrome (RDS) developed a pneumothorax 22.8 hours after surfactant treatment, whereas patients with transient tachypnea of the newborn (TTN), pneumonia, and meconium aspiration syndrome (MAS) developed pneumothorax after 16.6 hours. Of 50 patients with a secondary pneumothorax, 19 (38%) had RDS, 11 (22%) had MAS, 7 (14%) had TTN, and six (12%) had pneumonia. Among term newborns, 42.9% were treated only with 100% oxygen. Among preterm newborns, 72.6% and 27.3% needed a thoracostomy or ventilator care, respectively. Conclusion: A pneumothorax is likely to develop when pulmonary disease occurs in neonates. Therefore, it is important to carefully identify pneumothorax and provide appropriate treatment.