Citrin deficiency caused by the SLC25A13 gene mutations is associated with both neonatal-onset type II citrullinemia (CTLN2), also known as neonatal intrahepatic cholestasis caused by citrin deficiency and adult-onset CTLN2. Neonatal-onset CTLN2 is an autosomal recessive disorder characterized by poor growth, intrahepatic cholestasis, and increased serum citrulline. A 16-days old infant with hyperammonemia was referred for evaluation of increased plasma citrulline diagnosed using tandem mass spectrometry. Blood amino acid analysis showed significant elevation of citrulline. Mild elevation in serum galactose levels had been found. DNA analysis of the SLC25A13 gene in this patient showed two novel compound heterozygous mutations, c.221C>T in exon4 and c.1645C in exon16 (p.[Ser74Phe]+[Gln549X]). We suggest that infants with a high serum citrulline level on a tandem mass screening test are candidates for gene analysis and blood amino acid analysis for neonatal-onset CTLN2.
Calcium-Binding Proteins ; Cholestasis, Intrahepatic ; Citrulline ; Citrullinemia ; DNA ; Galactose ; Heterozygote ; Humans ; Hyperammonemia ; Infant ; Infant, Newborn ; Mass Screening ; Organic Anion Transporters ; Plasma ; Tandem Mass Spectrometry

Background and objectives: Carvedilol is a cardiovascular drug, beta- and alpha1-adrenoceptor antagonist, currently approved for the treatment of hypertension, angina, congestive heart failure by FDA. Carvedilol has been shown to attenuate oxygen free radical-initiated lipid peroxidation and to inhibit neointimal formation of aorta following vascular injury by balloon angioplasty. We have investigated the effect of carvedilol on DNA synthesis of vascular smooth muscle cells (VSMC) stimulated by platelet-derived growth factor (PDGF)-BB. MATERIALS AND METHOD: Rat aortic smooth muscle cells were obtained by the combined collagenase and elastase methods. Cells between the 4th and 8th passages were used for the experiments. Incorporated radioactivity of [3H]-thymidine was measured by liquid scintillation spectrometry. RESULTS: PDGF-BB (1 nM) increased [3H]-thymidine incorporation about 70-100% over basal value in cultured VSMC. PDGF-stimulated increase in DNA synthesis was significantly suppressed by simultaneous administration of carvedilol. In contrast, propranolol did not significantly affect 3[H]-thymidine uptake in rat aortic VSMC. CONCLUSION: The present study demonstrate that carvedilol significantly inhibits the proliferation of vascular smooth muscle cell in our condition. These results indicate that carvedilol may be effective in the treatment of cardiovascular diseases principally associated with abnormal vascular smooth muscle growth.
Angioplasty, Balloon ; Animals ; Aorta ; Cardiovascular Diseases ; Cell Proliferation ; Collagenases ; DNA ; Heart Failure ; Hypertension ; Lipid Peroxidation ; Muscle, Smooth, Vascular* ; Myocytes, Smooth Muscle ; Oxygen ; Pancreatic Elastase ; Platelet-Derived Growth Factor ; Propranolol ; Radioactivity ; Rats ; Spectrum Analysis ; Vascular System Injuries

BACKGROUND: Treating patients with osteopetrosis is very challenging even in very skilled surgeons with many experiences. We present an account of 5 patients treated for hip fracture related problems occurring throughout their life due to this disease. Difficulties encountered during their treatment prompted us to present some general management principles. METHODS: From January 2003 to December 2016, 5 patients with osteopetrosis (9 hips; 3 men, 2 women), who underwent operative or conservative treatment were retrospectively reviewed. We evaluated their clinical features and rate of union, malunion and post-operative infection. RESULTS: Four of 5 patients (80%) suffered bilateral fracture, and 8 of 9 fractures (89%) are transverse and occurred at subtrochanteric area resulted from minor trauma. Among 9 hips, surgery was performed in seven hips. Nonunion were found in 3 hips (33%), malunion in 1 hip (11%) and oteomyelitis was developed in 2 hips (22%) at a median of 8.1 years. CONCLUSIONS: Clinical features of hip fracture in osteopetrosis are very similar to atypical subtrochanteric femoral fractures. Patients should be informed of the possibilities of several anticipated complications including the risk of nonunion and infection after surgery.
Femoral Fractures ; Fracture Fixation, Internal ; Hip Fractures ; Hip ; Humans ; Male ; Osteopetrosis ; Retrospective Studies ; Surgeons

PURPOSE: To evaluate the enhancing pattern of gastric carcinomas at dynamic incremental CT and to correlate it with pathologic findings. MATERIALS AND METHODS: We retrospectively evaluated the enhancement pattern of stomach cancer on dynamic incremental CT of the 78 patients. All the lesions had been pathologically proved aftersurgery. The enhancement pattern was categorized as good or poor in the early phase ; homogeneous, heterogeneous or ring enhancement ; the presence or absence of delayed enhancement. There were 16 cases of early gastriccancer(EGC), and 62 cases of advanced gastric cancer(AGC). The Borrmann type of AGC were 1(n=1), 2(n=20), 3(n=32),4(n=8) and 5(n=1). The histologic patterns of AGC were tubular(n=49), signet ring cell(n=10), and mucinous(n=3). The enhancing patterns were compared with gross and histologic findings and delayed enhancement was corrrelated with pathologic evidence of desmoplasia. RESULTS: Good enhancement of tumor was seen in 24/41cases (58.5%) with AGC Borrmann type 3-5, in 6/21(28.6%) with AGC Borrmann type 1-2, and in 3/16(18.8%) with EGC (P<.05). By histologic pattern, good enhancement of tumor was seen in 8/10(80%) with signet ring cell type, in 21/49(42.9%)with tubular type, and in 1/3(33.3%) with mucinous type(P<.05). EGC was homogeneously enhanced in 14/16cases(87.5%), but AGC was heterogeneously enhanced in 33/62(53.2%), respectively(P<.01). There was no significant correlation between delayed enhancement and the presence of desmoplasia. CONCLUSION: AGC Borrmann type 3-5 andsignet ring cell type have a tendency to show good enhancement and EGC is more homogeneously enhanced at dynamicincremental CT.
Humans ; Mucins ; Retrospective Studies

Propionic acidemia is an autosomal-recessive inborn error of branched-chain amino acid metabolism. It is caused by deficient activity of propionyl-coenzyme A carboxylase and is characterized by a spectrum of clinical and biochemical findings. It usually manifests in the neonatal period or early infancy. Since Childs et al first described the propionic acidemia of infants in 1961, it has rarely been reported. There have been no previous report of this organic acidemia in Korea. We present a case of propionic acidemia in a 4-day old male, who had poor feeding, dehydration, and hyperammonemia and died at 12 days of age. Diagnosis was established by gas chromatography and mass spectrometry, and this case is the first reported propionic acidemia in literature in Korea. A review of the related literature was included.
Child ; Chromatography, Gas ; Dehydration ; Diagnosis ; Diethylpropion* ; Humans ; Hyperammonemia ; Infant ; Korea ; Male ; Mass Spectrometry ; Metabolism ; Methylmalonyl-CoA Decarboxylase ; Propionic Acidemia*

Propionic acidemia is an autosomal-recessive inborn error of branched-chain amino acid metabolism. It is caused by deficient activity of propionyl-coenzyme A carboxylase and is characterized by a spectrum of clinical and biochemical findings. It usually manifests in the neonatal period or early infancy. Since Childs et al first described the propionic acidemia of infants in 1961, it has rarely been reported. There have been no previous report of this organic acidemia in Korea. We present a case of propionic acidemia in a 4-day old male, who had poor feeding, dehydration, and hyperammonemia and died at 12 days of age. Diagnosis was established by gas chromatography and mass spectrometry, and this case is the first reported propionic acidemia in literature in Korea. A review of the related literature was included.
Child ; Chromatography, Gas ; Dehydration ; Diagnosis ; Diethylpropion* ; Humans ; Hyperammonemia ; Infant ; Korea ; Male ; Mass Spectrometry ; Metabolism ; Methylmalonyl-CoA Decarboxylase ; Propionic Acidemia*

Excessive wear causes many complications when untreated, so that accurate diagnosis, analysis and predictive treatment plan should be made, and through evaluation of vertical dimension and stepwise treatment, a stable inter-arch relationship can be set. For the long-term success of implant treatment, ideal position and angle of implant is important, and its importance increases especially in multiple implant cases. Therefore, thorough diagnosis and planning, accurate surgery and prosthodontic procedures are significant. In this case, a 68-year-old male patient with a loss of vertical dimension due to multiple tooth loss and overall tooth wear was planned with systematic analyses from the pre-treatment stage to rehabilitate vertical dimension. Full-mouth fixed rehabilitation with computer tomography guided implant surgery was performed to the newly set vertical dimension and attained satisfactory outcomes both functionally and esthetically.
Aged ; Dentition* ; Diagnosis ; Humans ; Male ; Rehabilitation* ; Tooth Loss ; Tooth Wear ; Tooth* ; Vertical Dimension*

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+/-2.9 days vs. 2.7+/-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.
Birth Weight ; Early Diagnosis ; Humans ; Infant, Newborn ; Inpatients ; Intensive Care, Neonatal ; Lung Diseases ; Meconium Aspiration Syndrome ; Oxygen ; Pneumonia ; Pneumothorax ; Resuscitation ; Retrospective Studies ; Thoracostomy ; Transient Tachypnea of the Newborn ; Ventilators, Mechanical

This study retrospectively assessed whether time-lapse data relating to developmental timing and morphology were associated with clinical outcomes, with the eventual goal of using morphokinetic variables to select embryos prospectively for cryopreservation. In this study, we examined the clinical outcomes of single vitrified-warmed blastocyst transfer cycles that were cultured in a time-lapse incubation system. The morphokinetic variables included uneven pronuclei, an uneven blastomere, multinucleation, and direct, rapid, and irregular division. A total of 164 single vitrified-warmed blastocyst transfer cycles were analyzed (102 cycles of regularly developed blastocysts and 62 cycles of blastocysts with morphokinetic variables). No significant differences in the age of females or the standard blastocyst morphology were found between these two groups. The regularly developed blastocysts showed significantly higher implantation and clinical pregnancy rates than the blastocysts exhibiting morphokinetic variables (30.4% vs. 9.7% and 37.3% vs. 14.5%, respectively; p < 0.01). The blastocysts that exhibited morphokinetic variables showed different mean development times compared with the regularly developed blastocysts. Although morphokinetic variables are known to have fatal impacts on embryonic development, a considerable number of embryos developed to the blastocyst stage. Morphokinetic variables had negative effects on the implantation and clinical pregnancy rates in vitrified-warmed blastocyst transfer cycles. These findings suggest that blastocysts cultured in a time-lapse incubation system should be considered for selective cryopreservation according to morphokinetic variables.
Blastocyst* ; Blastomeres ; Cryopreservation ; Embryo Transfer* ; Embryonic Development ; Embryonic Structures ; Female ; Humans ; Pregnancy ; Pregnancy Rate ; Prospective Studies ; Retrospective Studies* ; Single Embryo Transfer

BACKGROUND: Postprimary pulmonary tuberculosis is located mainly in upper lobes. The tuberculous lesion involving the lower lobes usually arises from the upper lobe cavity through endobronchial spread. When tuberculosis is confined to the lower lung field, it often masquerades as pneumonia, lung cancer, bronchiectasis, or lung ahscess. Thus the correct diagnosis may be sometimes delayed for a long time. METHODS: We carried out, retrospectively, a clinical study on 50 patients confirmed with lower lung field tuberculosis who visited the Department of Pulmonary Medicine at Hanyang University Hospital from January 1992 to December 1994. The following results were obtained. RESULTS: Lower lung field tuberculosis without concomitant upper lobe disease occurred in fifty patients representing 6.9% of the total admission with active pulmonary tuberculosis over a period of 3 years. It occurred most frequently in the third decade but age distribution was relatively even. The mean age was 43 years old. Female was more frequently affected than male (male to female ratio 1:1.9). The most common symptom was cough(68%), followed by sputum(52%), fever(38%), and chest discomfort(30%). On chest X-ray of the S0patients, consolidation was the most common finding in 52%, followed by solitary nodule(22%), collapse(16%), cavitary lesion(l0%), in decreasing order. The disease confined to the right side in 25 cases, left side 20 cases, and both sides 5 cases. Endobronchial tuberculosis (1) Endobronchial involvement was proved by bronchoscopic examination in 20 of S0patients. (2) Mean age was 44years old and female was more affected than man (male to female ratio 1 : 3). Sputum AFB stain and Mycobacterium tuberculosis culture were positive only in 50% of cases unlikely upper lobe tuberculosis, additional diagnostic methods were needed. In our study, bronchoscopic examination and percutaneous fine needle aspiration biopsy increased diagnostic yield by 18% and 32%, respectively. The most common associated condition was diabetes mellitus(18%) and others were anemia, anorexia nervosa, stomach cancer, and systemic steroid usage. CONCLUSION: When we find a lower lung field lesion, we should suspect tuberculosis if the patient has diabetes mellitus, anemia, systemic steroid usage, malignancy or other immune suppressed states. Because diagnostic yield of sputum AFB smear & Mycobacterium tuberculosis culture was low, additional diagnostic methods such as bronchoscopy and fine needle aspiration biopsy were needed.
Adult ; Age Distribution ; Anemia ; Anorexia Nervosa ; Biopsy ; Biopsy, Fine-Needle ; Bronchiectasis ; Bronchoscopy ; Diabetes Mellitus ; Diagnosis ; Female ; Humans ; Lung Neoplasms ; Lung* ; Male ; Mycobacterium tuberculosis ; Pneumonia ; Pulmonary Medicine ; Retrospective Studies ; Sputum ; Stomach Neoplasms ; Thorax ; Tuberculosis* ; Tuberculosis, Pulmonary