Pulmonary agenesis is a very rare anomaly. It is defined as total absence of the pulmonary parenchyma, vascular structures, and bronchi beyond the carina. We experienced a case of right pulmonary agenesis in association with other congenital defects who died at 1 day of age. The other defects included: esophageal atresia, tracheoesophageal fistula, cardiac malformation, anal atresia and a malformed left thumb. The cardiac malformations were a type of Pentalogy of Fallot, composed of right ventricular hypertrophy, ventricular septal defect, an overiding of aorta, pulmonary atresia, and an atrial septal defect. Hand roentgenograms of the malformed left thumb showed an unarticulated metacarpopharyngeal joint. This unique combination of anomalies is extremely rare.

Focal segmental glomerulosclerosis (FSGS) is presented as not only one of the primary glomerular diseases but also as a secondary phenomenon for chronic irreversible renal diseases. The main pathological feature of FSGS is the accumulation of extracellular matrix in the glomeruli, for which overexpression of transforming growth factor-beta (TGF-beta) may be responsible for the accumulation of pathological matrix. A new animal model (FGS/NgaKist mouse) of renal failure by spontaneously generating glomerulosclerosis was developed. To elucidate the role of TGF-beta for FSGS, authors observed glomeruli of FGS/NgaKist mouse periodically. FGS/NgaKist mouse strain showed progression of proteinuria and focal glomerular sclerosis with the aging. The glomeruli showed anti IgG, IgA, IgM and complement complex deposits and extracellular matrix accumulation in the mesangium. TGF-beta mRNA and beta2antibody expressions were increased with the advance of glomerular sclerosis. The results suggest the following; FSGS of FGS/NgaKist strain is immune mediated disease and this stimuli on mesangial or endothelial cells may activate TGF-beta gene in their nuclei. This activation, in turn, can cause sclerosis by increasing TGF-beta mRNA transcription followed by secretion of TGF-beta and its action as cytokine for making collagen fibrils.
Aging ; Animals ; Collagen ; Complement System Proteins ; Endothelial Cells ; Extracellular Matrix ; Glomerulosclerosis, Focal Segmental ; Immunoglobulin A ; Immunoglobulin G ; Immunoglobulin M ; Mice* ; Models, Animal ; Proteinuria ; Renal Insufficiency ; RNA, Messenger ; Sclerosis ; Transforming Growth Factor beta

Ehlers-Danlos Syndrome(EDS) is an inherited disorder of the connective tissue disease that is usually transmitted as autosomal dominant trait. The defect in the biogenesis of collagen results in varying degree of skin hyperextensibility, joint hypermobility, skin fragility and bruising. There have been several reports of cardiac or great vessel abnormalities in patients with the EDS. A 45-year-old Woman was admitted to Maryknoll hospital because of orthopnea, palpitation and epigastric discomfort. Physical examination reveals multiple variable sized bruises and increased hyperelasticity on skin, and hypermobile joint in knee and proximal interphalanges of both hands. Mitral valvular prolapse and atrial septal defect were detected by echocardiography. We report a case of EDS accompanied by mitral valvular prolapse and ostium secundum atral septal defect with brief review of literature.
Organelle Biogenesis ; Collagen ; Connective Tissue Diseases ; Contusions ; Echocardiography ; Ehlers-Danlos Syndrome* ; Female ; Hand ; Heart Septal Defects, Atrial* ; Humans ; Joint Instability ; Joints ; Knee ; Middle Aged ; Physical Examination ; Prolapse* ; Skin

We have recently managed a patient, 31-year-old male, who has been in the state of inferior paraparesis due to cervical disc herniation. The centrally herniated disc material was removed through the posterior approach to the lesion under the general anesthesia in left lateral position. Two days after the operation with removal of herniated disc at C5-6interspace, the subject developed quadriparesis and difficulty in urination in which the weakness of upper extremities were more severe that of the lower extremities. The signs developed postoperatively were very much compatible with those of central cord syndrome, There was improving after the removal of the hematoma and of additional herniated material at second operation which was forced to be done due to development of central cord syndrome in severe degree following the primary surgery. Recovery from neurological dysfunction in order of good and better improvement was of leg, arm, voiding and finger.
Adult ; Anesthesia, General ; Arm ; Central Cord Syndrome* ; Fingers ; Hematoma ; Humans ; Intervertebral Disc Displacement ; Leg ; Lower Extremity ; Male ; Paraparesis ; Quadriplegia ; Upper Extremity ; Urination

BACKGROUND AND OBJECTIVES: Oxidative stress plays an important role in the pathogenesis of coronary atherosclerosis and spasm. We investigated whether the polymorphisms in two oxidative stress-related genes, paraoxonase and p22phox, are associated with risks of coronary artery spasm and stenosis. SUBJECTS AND METHODS: The study comprised of 116 patients with variant angina, 118 patients with coronary artery stenosis and 117 control subjects, who were all classified by coronary angiography. In all three groups, the genotype frequencies of the Q192R polymorphism of the paraoxonase gene and C242T polymorphism of the p22phox gene were analyzed, and the serum thiobarbituric acid-reactive substance concentrations measured. RESULTS: The frequency of the RR genotype of the paraoxonase Q192R polymorphism was significantly higher in patients with variant angina and coronary artery stenosis than in the control subjects (40.4% in variant angina and 37.8% in coronary artery stenosis vs. 24.7% in control, p=0.020 and 0.048, respectively). From the multivariate analysis, the odds ratio of the RR genotype was 2.240 for variant angina (95% confidence interval ; 1.012-4.956), and 2.333 for coronary artery stenosis (95% confidence interval ; 1.140-4.777), in relation to the control subjects. The thiobarbituric acid-reactive substance level was significantly higher in the RR type than in the QQ+QR types (RR vs. QQ+QR : 1.106+/-0.420 nmol/mL vs. 0.949+/-0.311 nmol/mL, p=0.028). There was no significant difference in the prevalence of the C242T polymorphism of the p22phox gene between the three groups. CONCLUSION: The RR genotype of the paraoxonase gene Q192R polymorphism was found to be an independent risk factor for both coronary spasm and stenosis.
Angina Pectoris ; Aryldialkylphosphatase* ; Constriction, Pathologic ; Coronary Angiography ; Coronary Artery Disease ; Coronary Stenosis* ; Coronary Vessels* ; Genotype ; Humans ; Multivariate Analysis ; Odds Ratio ; Oxidative Stress* ; Polymorphism, Single Nucleotide ; Prevalence ; Risk Factors ; Spasm

Syphilis, along with the recent increase of human immunodeficiency virus (HIV) patients, has also been on the rise. It has a broad spectrum of clinical manifestations, among which cerebral gumma is, a kind of neurosyphilis, however, it is rare and can be cured by penicillin. Thus, cerebral gumma needs to be differentially diagnosed from other brain masses that may be present in syphilis patients. We have experienced a case where the patient was first suspected of brain tumor, but confirmed by surgery to be cerebral gumma due to neurosyphilis. This is the first such case encountered in Korea, therefore, we report it here in. A 40-year old woman complaining of headaches was found to have a brain mass on her CT scans and MRI. Suspecting a brain Tumor, a resection was performed on the patient, and histological results revealed that the central portion of the mass contained necrotic material and the peripheral region was infiltrated with plasma cells. Warthin-Starry staining of the region revealed spirochetes, and the patient was thus diagnosed as brain gumma. Venereal Disease Research Laboratory (VDRL) of cerebrospinal fluid (CSF) was reactive. After an operation, penicillin-G at a daily dose of 24x10(6) U was given for 10 days from post-operative day 10, and thereafter, the mass disappeared.
Adult ; Brain Neoplasms/*diagnosis/pathology/radiography ; Female ; HIV Infections/*diagnosis/radiography ; Humans ; Magnetic Resonance Imaging ; Neurosyphilis/*diagnosis/pathology/radiography ; Tomography, X-Ray Computed

INTRODUCTION: Child sexual abuse (CSA) adversely affects a child's growth and well-being. This study aimed to describe the profile of children presenting to a tertiary paediatric emergency department(ED) with CSA. METHODS: Children 0-16 years old presenting to KK Women's and Children's Hospital ED from June 2016 to August 2020 with sexual abuse were retrospectively reviewed. We performed a secondary analysis on girls and stratified them by age <13 and ≥13 years old. RESULTS: There were 790 patients who made 833 visits for CSA. Victims were predominantly girls (747, 94.8%) and perpetrators were predominantly men (763, 96.6%). The abuse first occurred before the age of 13 years in 315 victims (39.9%). For 468 (59.2%), more than one incident occurred before presentation. Compared to girls ≥13 years old, girls <13 years old were more frequently abused by a family member (47.7% versus 8.0%, CONCLUSION The findings highlight common characteristics of CSA cases, and can aid the future identification and protection of vulnerable children. The fact that most children presented after more than one incident suggests the need to more closely monitor and protect potentially at-risk children.
Adolescent ; Child ; Child Abuse ; Child Abuse, Sexual ; Child, Preschool ; Emergency Service, Hospital ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Parents ; Retrospective Studies

INTRODUCTION: We evaluated the impact of public health measures on paediatric emergency department attendances during the COVID-19 and severe acute respiratory syndrome (SARS) outbreaks in Singapore. METHODS: Between 1 January 2020 and 31 July 2020, we retrospectively reviewed paediatric emergency department attendances and admissions in a tertiary paediatric hospital in Singapore before and after a national lockdown to combat the spread of COVID-19 in Singapore. Hospital attendances and admissions were compared with data from a corresponding period in 2019 (1 January 2019 to 31 July 2019), as well as during and after the SARS outbreak (1 January 2003 to 31 December 2004). RESULTS: Compared with a corresponding non-outbreak period, emergency department attendances decreased in line with nationwide public health measures during the COVID-19 and SARS outbreaks (2020 and 2003 respectively), before increasing gradually following lifting of restrictions, albeit not to recorded levels before these outbreaks. During the COVID-19 outbreak, mean daily attendances decreased by 40%, from 458 per day in January-July 2019, to 274 per day in January-July 2020. The absolute number of hospital inpatient admissions decreased by 37% from January-July 2019 (19,629) to January-July 2020 (12,304). The proportion of emergency department attendances requiring admission remained similar: 20% in January-July 2019 and 21% in January-July 2020. CONCLUSION Nationwide public health measures in Singapore have had an impact on paediatric emergency department attendances and hospital inpatient admissions. Data from this study could inform planning and resource allocation for emergency departments in Singapore and internationally.
Adolescent ; COVID-19/prevention & control* ; Child ; Child, Preschool ; Disease Outbreaks ; Emergency Service, Hospital/trends* ; Facilities and Services Utilization/trends* ; Female ; Health Policy ; Humans ; Infant ; Infant, Newborn ; Male ; Patient Acceptance of Health Care/statistics & numerical data* ; Patient Admission/trends* ; Pediatrics ; Retrospective Studies ; Severe Acute Respiratory Syndrome/epidemiology* ; Singapore/epidemiology*

BACKGROUND AND OBJECTIVES: Granulocytes-colony stimulating factor (G-CSF) has a stem cell mobilizing capacity and favorable effects on ventricular remodeling following a myocardial infarction. G-CSF based stem cell therapy has shown favorable results in animal studies. However, the long term outcome of G-CSF based stem cell therapy in clinical trial remains unknown. Herein, we report the six month follow up results of two different G-CSF based stem cell therapy strategies. SUBJECTS AND METHODS: We compared the intra-coronary infusion of mobilized peripheral blood stem cells (PBSCs) with G-CSF (n=10), mobilization with G-CSF alone (n=16) and control percutaneous coronary intervention (PCI) alone (n=15) in patients following a myocardial infarction. RESULTS: At the six month follow up evaluations, the intra-coronary cell infusion was found to have improved the left ventricular (LV) systolic function and remodeling compared to the baseline, whereas G-CSF alone showed no improvement. Therefore, an intra-coronary cell infusion showed better improvements in the LV systolic function (p<0.001) and remodeling (p<0.01) than G-CSF alone. Cell infusion also showed better results than the control PCI alone group, but these did not reach statistical significance with the limited number of patients used in this study. Patients who received G-CSF administration showed a modest increase of binary restenosis (p=0.185) and a greater late loss in the minimal luminal diameter at the 6 month follow up than the control group. CONCLUSION: An intra-coronary cell infusion of mobilized PBSCs using G-CSF was found to be better than G-CSF alone at the six month follow up evaluation. G-CSF was also found to increase the potential risk of restenosis, especially when administered prior to stent implantation. The efficacy of an intra-coronary infusion of mobilized PBSCs should be evaluated in a large randomized controlled trial.
Animals ; Coronary Restenosis ; Follow-Up Studies* ; Granulocyte Colony-Stimulating Factor ; Humans ; Magic* ; Myocardial Infarction* ; Percutaneous Coronary Intervention ; Phenobarbital ; Stem Cells* ; Stents ; Ventricular Remodeling

Background/Aims: Little is known about the clinical course of hepatitis B virus (HBV)-infected patients undergoing anti-tumor necrosis factor α (TNF-α) therapy for inflammatory bowel disease (IBD). We aimed to investigate the clinical course of HBV infection and IBD and to analyze liver dysfunction risks in patients undergoing anti-TNF-α therapy. Methods: This retrospective multinational study involved multiple centers in Korea, China, Tai-wan, and Japan. We enrolled IBD patients with chronic or resolved HBV infection, who received anti-TNF-α therapy. The patients’ medical records were reviewed, and data were collected using a web-based case report form. Results: Overall, 191 patients (77 ulcerative colitis and 114 Crohn’s disease) were included, 28.3% of whom received prophylactic antivirals. During a median follow-up duration of 32.4 months, 7.3% of patients experienced liver dysfunction due to HBV reactivation. Among patients with chronic HBV infection, the proportion experiencing liver dysfunction was significantly higher in the non-prophylaxis group (26% vs 8%, p=0.02). Liver dysfunction occurred in one patient with resolved HBV infection. Antiviral prophylaxis was independently associated with an 84% reduction in liver dysfunction risk in patients with chronic HBV infection (odds ratio, 0.16; 95% confidence interval, 0.04 to 0.66; p=0.01). The clinical course of IBD was not associated with liver dysfunction or the administration of antiviral prophylaxis. Conclusions Liver dysfunction due to HBV reactivation can occur in HBV-infected IBD patients treated with anti-TNF-α agents. Careful monitoring is needed in these patients, and antivirals should be administered, especially to those with chronic HBV infection.