Intraosseous Neurilemmomas are very rare tumor and most of them are arose in the mandibular bone. A case report is made on the intraosseous neurilemmoma in the distal shaft of tibia which belong very rarely seen in the area of bone. The case was a 23 year old male who had multicystic lesion on the distal shaft of right tibia with marginal this sclerotic change on the radiological examination. The lesion of intraosseous neurilemmoma was confirmed by the microscopic examination after surgical treatment of curettage and bone graft. Also a review of literature on the neurilemmoma was made and reported.
Curettage ; Humans ; Male ; Neurilemmoma ; Tibia ; Transplants

The survival rate and motility recovered after cryopreservation of testicular spermatozoa in testicular sperm extraction (TESE)-ICSl program is low. The purpose of this study was to assess the availability and efficiency of mouse empty zona pellucida in cryopreserving human TESE spermatozoa. Mouse empty zonae pellucidae were obtained by extraction of cytoplasm with or without cytochalasin B treatment. Motile sperm from proven-fertile donor and two azoospermic patients after TESE were individually inserted into empty zona pellucida and cryopreserved. Two to five days after cyropreservation, the frozen sperm were thawed and the rates of recovery and motility were observed. The ooplasmic extraction rates of control (N=80) and cytochalasin B treated oocytes (N=80) were 94.0% and 96.2%, respectively (p>0.05). The post-thaw recovery rates of spermatozoa and rates of motility recovery of ejaculate (N=70) and testicular (N=70) sperm were 97.1%, 97.1% and 95.7%, 94.3%, respectively (p>0.05). The results of this study showed that the mouse zone pellucida is useful for cryostorage of single testicular spermatozoa.
Animals ; Cryopreservation* ; Cytochalasin B ; Cytoplasm ; Herpes Zoster* ; Humans ; Mice* ; Oocytes ; Sperm Injections, Intracytoplasmic* ; Spermatozoa* ; Survival Rate ; Tissue Donors ; Zona Pellucida*

Nemaline myopathy is a genetically heterogeneous neuromuscular disorder and one of the most common congenital myopathies. The clinical manifestations usually vary depending on the age of onset. Neonatal nemaline myopathy has the worst prognosis, primarily due to respiratory failure. Several genes associated with nemaline myopathy have been identified, including NEB, ACTA1, TPM3, TPM2, TNNT1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, and KBTBD13. Here, we report a neonatal Korean female patient with nemaline myopathy carrying compound heterozygous mutations in the gene KLHL40 as revealed using next generation sequencing (NGS). The patient presented with postnatal cyanosis, respiratory failure, dysphagia, and hypotonia just after birth. To identify the genetic cause underlying the neonatal myopathy, NGS-based gene panel sequencing was performed. Compound heterozygous pathogenic variants were detected in KLHL40: c.[1405G>T];[1582G>A] (p. [Gly469cys];[Glu528Lys]). NGS allows quick and accurate diagnosis at a lower cost compared to traditional serial single gene sequencing, which is greatly advantageous in genetically heterogeneous disorders such as myopathies. Rapid diagnosis will facilitate efficient and timely genetic counseling, prediction of disease prognosis, and establishment of treatments.

Nemaline myopathy is a genetically heterogeneous neuromuscular disorder and one of the most common congenital myopathies. The clinical manifestations usually vary depending on the age of onset. Neonatal nemaline myopathy has the worst prognosis, primarily due to respiratory failure. Several genes associated with nemaline myopathy have been identified, including NEB, ACTA1, TPM3, TPM2, TNNT1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, and KBTBD13. Here, we report a neonatal Korean female patient with nemaline myopathy carrying compound heterozygous mutations in the gene KLHL40 as revealed using next generation sequencing (NGS). The patient presented with postnatal cyanosis, respiratory failure, dysphagia, and hypotonia just after birth. To identify the genetic cause underlying the neonatal myopathy, NGS-based gene panel sequencing was performed. Compound heterozygous pathogenic variants were detected in KLHL40: c.[1405G>T];[1582G>A] (p. [Gly469cys];[Glu528Lys]). NGS allows quick and accurate diagnosis at a lower cost compared to traditional serial single gene sequencing, which is greatly advantageous in genetically heterogeneous disorders such as myopathies. Rapid diagnosis will facilitate efficient and timely genetic counseling, prediction of disease prognosis, and establishment of treatments.

Periventricular nodular heterotopia (PNH) is a neuronal migration disorder that occurs during early brain development. Patients with PNH may be asymptomatic and have normal intelligence; however, PNH is also known to cause various symptoms such as seizures, dyslexia, and cardiovascular anomalies. PNH is not commonly diagnosed during early infancy because of the lack of clinical manifestations during this period. We present the case of a female infant diagnosed with PNH based on brain magnetic resonance imaging, who had symptomatic patent ductus arteriosus that had to be ligated surgically and had prolonged feeding cyanosis with frequent apneic spells.

Objective: Bronchopulmonary dysplasia (BPD) is a significant respiratory disorder in premature infants, and its prevalence remains high at 35% to 40% of very low gestational age (<28 weeks gestation). The aim of this study is to analyze the respiratory outcomes of BPD in neonatal intensive care unit as well as respiratory outcomes over a corrected age of 18 to 24 months using 3 different definitions of BPD (National Institutes of Health [NIH] 2001, National Institute of Child Health and Human Development [NICHD] 2018 and Jensen 2019). Methods: We conducted a study on infants under 32 weeks of gestation between 2012 and 2021 at Ajou university hospital. First, we compared the incidence of BPD, mortality, and length of hospital stays. To evaluate long-term respiratory outcomes, the number of re-admissions and prescriptions due to respiratory problems were analyzed. Results: NIH 2001 showed an incidence of 281 (40.0%), NICHD 2018 showed 139 (19.7%), and Jensen 2019 showed 137 (19.5%). In grade III of Jensen 2019, it demonstrated the highest severity with mortality rate of 29.4% and an average length of hospital stay of 42.5 weeks. Also, it was confirmed that the period of use of invasive ventilator was the longest at 87.8±60.3 days. In the analysis of readmission and prescription counts, grade III showed statistically significant higher occurrences in both NICHD 2018 and Jensen 2019 than NIH 2001. Conclusion The latest definitions of BPD have demonstrated to better represent both short-term and long-term respiratory severity in premature infants less than 32 weeks.

Objective: Bronchopulmonary dysplasia (BPD) is a significant respiratory disorder in premature infants, and its prevalence remains high at 35% to 40% of very low gestational age (<28 weeks gestation). The aim of this study is to analyze the respiratory outcomes of BPD in neonatal intensive care unit as well as respiratory outcomes over a corrected age of 18 to 24 months using 3 different definitions of BPD (National Institutes of Health [NIH] 2001, National Institute of Child Health and Human Development [NICHD] 2018 and Jensen 2019). Methods: We conducted a study on infants under 32 weeks of gestation between 2012 and 2021 at Ajou university hospital. First, we compared the incidence of BPD, mortality, and length of hospital stays. To evaluate long-term respiratory outcomes, the number of re-admissions and prescriptions due to respiratory problems were analyzed. Results: NIH 2001 showed an incidence of 281 (40.0%), NICHD 2018 showed 139 (19.7%), and Jensen 2019 showed 137 (19.5%). In grade III of Jensen 2019, it demonstrated the highest severity with mortality rate of 29.4% and an average length of hospital stay of 42.5 weeks. Also, it was confirmed that the period of use of invasive ventilator was the longest at 87.8±60.3 days. In the analysis of readmission and prescription counts, grade III showed statistically significant higher occurrences in both NICHD 2018 and Jensen 2019 than NIH 2001. Conclusion The latest definitions of BPD have demonstrated to better represent both short-term and long-term respiratory severity in premature infants less than 32 weeks.

Objective: Bronchopulmonary dysplasia (BPD) is a significant respiratory disorder in premature infants, and its prevalence remains high at 35% to 40% of very low gestational age (<28 weeks gestation). The aim of this study is to analyze the respiratory outcomes of BPD in neonatal intensive care unit as well as respiratory outcomes over a corrected age of 18 to 24 months using 3 different definitions of BPD (National Institutes of Health [NIH] 2001, National Institute of Child Health and Human Development [NICHD] 2018 and Jensen 2019). Methods: We conducted a study on infants under 32 weeks of gestation between 2012 and 2021 at Ajou university hospital. First, we compared the incidence of BPD, mortality, and length of hospital stays. To evaluate long-term respiratory outcomes, the number of re-admissions and prescriptions due to respiratory problems were analyzed. Results: NIH 2001 showed an incidence of 281 (40.0%), NICHD 2018 showed 139 (19.7%), and Jensen 2019 showed 137 (19.5%). In grade III of Jensen 2019, it demonstrated the highest severity with mortality rate of 29.4% and an average length of hospital stay of 42.5 weeks. Also, it was confirmed that the period of use of invasive ventilator was the longest at 87.8±60.3 days. In the analysis of readmission and prescription counts, grade III showed statistically significant higher occurrences in both NICHD 2018 and Jensen 2019 than NIH 2001. Conclusion The latest definitions of BPD have demonstrated to better represent both short-term and long-term respiratory severity in premature infants less than 32 weeks.

Objective: Bronchopulmonary dysplasia (BPD) is a significant respiratory disorder in premature infants, and its prevalence remains high at 35% to 40% of very low gestational age (<28 weeks gestation). The aim of this study is to analyze the respiratory outcomes of BPD in neonatal intensive care unit as well as respiratory outcomes over a corrected age of 18 to 24 months using 3 different definitions of BPD (National Institutes of Health [NIH] 2001, National Institute of Child Health and Human Development [NICHD] 2018 and Jensen 2019). Methods: We conducted a study on infants under 32 weeks of gestation between 2012 and 2021 at Ajou university hospital. First, we compared the incidence of BPD, mortality, and length of hospital stays. To evaluate long-term respiratory outcomes, the number of re-admissions and prescriptions due to respiratory problems were analyzed. Results: NIH 2001 showed an incidence of 281 (40.0%), NICHD 2018 showed 139 (19.7%), and Jensen 2019 showed 137 (19.5%). In grade III of Jensen 2019, it demonstrated the highest severity with mortality rate of 29.4% and an average length of hospital stay of 42.5 weeks. Also, it was confirmed that the period of use of invasive ventilator was the longest at 87.8±60.3 days. In the analysis of readmission and prescription counts, grade III showed statistically significant higher occurrences in both NICHD 2018 and Jensen 2019 than NIH 2001. Conclusion The latest definitions of BPD have demonstrated to better represent both short-term and long-term respiratory severity in premature infants less than 32 weeks.

Objective: Bronchopulmonary dysplasia (BPD) is a significant respiratory disorder in premature infants, and its prevalence remains high at 35% to 40% of very low gestational age (<28 weeks gestation). The aim of this study is to analyze the respiratory outcomes of BPD in neonatal intensive care unit as well as respiratory outcomes over a corrected age of 18 to 24 months using 3 different definitions of BPD (National Institutes of Health [NIH] 2001, National Institute of Child Health and Human Development [NICHD] 2018 and Jensen 2019). Methods: We conducted a study on infants under 32 weeks of gestation between 2012 and 2021 at Ajou university hospital. First, we compared the incidence of BPD, mortality, and length of hospital stays. To evaluate long-term respiratory outcomes, the number of re-admissions and prescriptions due to respiratory problems were analyzed. Results: NIH 2001 showed an incidence of 281 (40.0%), NICHD 2018 showed 139 (19.7%), and Jensen 2019 showed 137 (19.5%). In grade III of Jensen 2019, it demonstrated the highest severity with mortality rate of 29.4% and an average length of hospital stay of 42.5 weeks. Also, it was confirmed that the period of use of invasive ventilator was the longest at 87.8±60.3 days. In the analysis of readmission and prescription counts, grade III showed statistically significant higher occurrences in both NICHD 2018 and Jensen 2019 than NIH 2001. Conclusion The latest definitions of BPD have demonstrated to better represent both short-term and long-term respiratory severity in premature infants less than 32 weeks.