Osteopetrosis refers to a group of genetic skeletal disorders characterized by osteosclerosis and fragile bones. Osteopetrosis can be classified into autosomal dominant, autosomal recessive, or X-linked forms, which might differ in clinical characteristics and disease severity. Autosomal recessive osteopetrosis, also known as malignant osteopetrosis, has an earlier onset, more serious clinical symptoms, and is usually fatal. We encountered a 1-day-old girl who was born full-term via vaginal delivery, which was complicated by meconium-stained amniotic fluid, cephalo-pelvic disproportion, and nuchal cord. Routine neonatal care was provided, in addition to blood tests and chest radiography to screen for sepsis, as well as skull radiography to rule out head injuries. Initial blood tests revealed hypocalcemia, which persisted on follow-up tests the next day. Radiographic examinations revealed diffusely increased bone density and a "space alien" appearance of the skull. Based on radiographic and laboratory findings, the infantile form of osteopetrosis was suspected and genetic testing for identification of the responsible gene. Eventually, a heterozygous mutation of the T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 (TCIRG1) gene (c.292C>T) was identified, making this the first reported case of neonatal-onset malignant osteopetrosis with TCIRG1 mutation in South Korea. Early-onset hypocalcemia is common and usually results from prematurity, fetal growth restriction, maternal diabetes, perinatal asphyxia, and physiologic hypoparathyroidism. However, if hypocalcemia persists, we recommend considering 'infantile of osteopetrosis' as a rare cause of neonatal hypocalcemia and performing radiographic examinations to establish the diagnosis.

Osteopetrosis refers to a group of genetic skeletal disorders characterized by osteosclerosis and fragile bones. Osteopetrosis can be classified into autosomal dominant, autosomal recessive, or X-linked forms, which might differ in clinical characteristics and disease severity. Autosomal recessive osteopetrosis, also known as malignant osteopetrosis, has an earlier onset, more serious clinical symptoms, and is usually fatal. We encountered a 1-day-old girl who was born full-term via vaginal delivery, which was complicated by meconium-stained amniotic fluid, cephalo-pelvic disproportion, and nuchal cord. Routine neonatal care was provided, in addition to blood tests and chest radiography to screen for sepsis, as well as skull radiography to rule out head injuries. Initial blood tests revealed hypocalcemia, which persisted on follow-up tests the next day. Radiographic examinations revealed diffusely increased bone density and a "space alien" appearance of the skull. Based on radiographic and laboratory findings, the infantile form of osteopetrosis was suspected and genetic testing for identification of the responsible gene. Eventually, a heterozygous mutation of the T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 (TCIRG1) gene (c.292C>T) was identified, making this the first reported case of neonatal-onset malignant osteopetrosis with TCIRG1 mutation in South Korea. Early-onset hypocalcemia is common and usually results from prematurity, fetal growth restriction, maternal diabetes, perinatal asphyxia, and physiologic hypoparathyroidism. However, if hypocalcemia persists, we recommend considering 'infantile of osteopetrosis' as a rare cause of neonatal hypocalcemia and performing radiographic examinations to establish the diagnosis.

Background: and Purpose We aimed to develop a model predicting early recanalization after intravenous tissue plasminogen activator (t-PA) treatment in large-vessel occlusion. Methods: Using data from two different multicenter prospective cohorts, we determined the factors associated with early recanalization immediately after t-PA in stroke patients with large-vessel occlusion, and developed and validated a prediction model for early recanalization. Clot volume was semiautomatically measured on thin-section computed tomography using software, and the degree of collaterals was determined using the Tan score. Follow-up angiographic studies were performed immediately after t-PA treatment to assess early recanalization. Results: Early recanalization, assessed 61.0±44.7 minutes after t-PA bolus, was achieved in 15.5% (15/97) in the derivation cohort and in 10.5% (8/76) in the validation cohort. Clot volume (odds ratio [OR], 0.979; 95% confidence interval [CI], 0.961 to 0.997; P=0.020) and good collaterals (OR, 6.129; 95% CI, 1.592 to 23.594; P=0.008) were significant factors associated with early recanalization. The area under the curve (AUC) of the model including clot volume was 0.819 (95% CI, 0.720 to 0.917) and 0.842 (95% CI, 0.746 to 0.938) in the derivation and validation cohorts, respectively. The AUC improved when good collaterals were added (derivation cohort: AUC, 0.876; 95% CI, 0.802 to 0.950; P=0.164; validation cohort: AUC, 0.949; 95% CI, 0.886 to 1.000; P=0.036). The integrated discrimination improvement also showed significantly improved prediction (0.097; 95% CI, 0.009 to 0.185; P=0.032). Conclusions The model using clot volume and collaterals predicted early recanalization after intravenous t-PA and had a high performance. This model may aid in determining the recanalization treatment strategy in stroke patients with large-vessel occlusion.

Background: and Purpose We aimed to develop a model predicting early recanalization after intravenous tissue plasminogen activator (t-PA) treatment in large-vessel occlusion. Methods: Using data from two different multicenter prospective cohorts, we determined the factors associated with early recanalization immediately after t-PA in stroke patients with large-vessel occlusion, and developed and validated a prediction model for early recanalization. Clot volume was semiautomatically measured on thin-section computed tomography using software, and the degree of collaterals was determined using the Tan score. Follow-up angiographic studies were performed immediately after t-PA treatment to assess early recanalization. Results: Early recanalization, assessed 61.0±44.7 minutes after t-PA bolus, was achieved in 15.5% (15/97) in the derivation cohort and in 10.5% (8/76) in the validation cohort. Clot volume (odds ratio [OR], 0.979; 95% confidence interval [CI], 0.961 to 0.997; P=0.020) and good collaterals (OR, 6.129; 95% CI, 1.592 to 23.594; P=0.008) were significant factors associated with early recanalization. The area under the curve (AUC) of the model including clot volume was 0.819 (95% CI, 0.720 to 0.917) and 0.842 (95% CI, 0.746 to 0.938) in the derivation and validation cohorts, respectively. The AUC improved when good collaterals were added (derivation cohort: AUC, 0.876; 95% CI, 0.802 to 0.950; P=0.164; validation cohort: AUC, 0.949; 95% CI, 0.886 to 1.000; P=0.036). The integrated discrimination improvement also showed significantly improved prediction (0.097; 95% CI, 0.009 to 0.185; P=0.032). Conclusions The model using clot volume and collaterals predicted early recanalization after intravenous t-PA and had a high performance. This model may aid in determining the recanalization treatment strategy in stroke patients with large-vessel occlusion.

PURPOSE: Percutaneous radiofrequency ablation (RFA) for hepatocellular carcinoma (HCC) has some limitations such as poor sonic window and injury to adjacent organs. The laparoscopic approach has been suggested as an alternative option. The aim of this study was to show the safety and efficacy of laparoscopic RFA for single, small (≤3 cm), and primary or recurrent HCC that is not suitable for percutaneous RFA or surgical resection. METHODS: We reviewed the cases of 37 patients (32 men and 5 women, mean age 61 ± 8.1 years) who underwent laparoscopic RFA for single, small HCC (≤3 cm) that was unsuitable for percutaneous RFA or surgical resection. RESULTS: The technical success rate was 94.6% and 34 patients (95%) had no complications. There were no conversions to open RFA and no operative mortality. The primary effectiveness rate 1 month after the procedure was 100%. The overall recurrence rates at 3, 6, 12, and 24 months after the laparoscopic RFA were 8.1%, 14.4%, 25%, and 35.7%, respectively. The local tumor progression rate was 4.2% at 6 months and 8.7% at 9 months. CONCLUSION: Laparoscopic RFA is a safe and effective treatment for HCC cases that are unsuitable for percutaneous RFA.
Carcinoma, Hepatocellular* ; Catheter Ablation* ; Female ; Humans ; Laparoscopy ; Male ; Mortality ; Neoplasm Recurrence, Local ; Recurrence

BACKGROUND/AIMS: Endoscopic submucosal dissection (ESD) allows removal of colorectal epithelial neoplasms en bloc regardless of size. Colorectal ESD is a difficult procedure because of technical difficulties and risks of complications. This study aimed to assess the relationship between ESD outcome and degree of submucosal fibrosis. METHODS: Patients with colorectal tumors undergoing ESD and their medical records were reviewed retrospectively. The degree of submucosal fibrosis was classified into three types. The relationship between ESD outcome and degree of submucosal fibrosis was analyzed. RESULTS: ESD was performed in 158 patients. Thirty-eight cases of F0 (no) fibrosis (24.1%) and 46 cases of F2 (severe) fibrosis (29.1%) were observed. Complete resection was achieved for 138 lesions (87.3%). Multivariate analysis demonstrated that submucosal invasion of tumor and histology of carcinoma were independent risk factors for F2 fibrosis. Severe fibrosis was an independent risk factor for incomplete resection. CONCLUSIONS: Severe fibrosis is an important factor related to incomplete resection during colorectal ESD. In cases of severe fibrosis, the rate of complete resection was low even when ESD was performed by an experienced operator. Evaluation of submucosal fibrosis may be helpful to predict the submucosal invasion of tumors and technical difficulties in ESD.
Colorectal Neoplasms ; Fibrosis* ; Humans ; Medical Records ; Multivariate Analysis ; Neoplasms, Glandular and Epithelial ; Retrospective Studies ; Risk Factors

BACKGROUND/AIMS: Endoscopic submucosal dissection (ESD) allows removal of colorectal epithelial neoplasms en bloc regardless of size. Colorectal ESD is a difficult procedure because of technical difficulties and risks of complications. This study aimed to assess the relationship between ESD outcome and degree of submucosal fibrosis. METHODS: Patients with colorectal tumors undergoing ESD and their medical records were reviewed retrospectively. The degree of submucosal fibrosis was classified into three types. The relationship between ESD outcome and degree of submucosal fibrosis was analyzed. RESULTS: ESD was performed in 158 patients. Thirty-eight cases of F0 (no) fibrosis (24.1%) and 46 cases of F2 (severe) fibrosis (29.1%) were observed. Complete resection was achieved for 138 lesions (87.3%). Multivariate analysis demonstrated that submucosal invasion of tumor and histology of carcinoma were independent risk factors for F2 fibrosis. Severe fibrosis was an independent risk factor for incomplete resection. CONCLUSIONS: Severe fibrosis is an important factor related to incomplete resection during colorectal ESD. In cases of severe fibrosis, the rate of complete resection was low even when ESD was performed by an experienced operator. Evaluation of submucosal fibrosis may be helpful to predict the submucosal invasion of tumors and technical difficulties in ESD.
Colorectal Neoplasms ; Fibrosis* ; Humans ; Medical Records ; Multivariate Analysis ; Neoplasms, Glandular and Epithelial ; Retrospective Studies ; Risk Factors

OBJECTIVE: This study aimed to examine clinical practice patterns in the management of pregnant women admitted with threatened preterm labor (TPL) in Korea. METHODS: Data from women admitted with a diagnosis of TPL were collected from 22 hospitals. TPL was defined as regular uterine contractions with or without other symptoms such as pelvic pressure, backache, increased vaginal discharge, menstrual-like cramps, bleeding/show and cervical changes. Data on general patient information, clinical characteristics at admission, use of tocolytics, antibiotics, and corticosteroids, and pregnancy outcomes were collected using an online data collections system. RESULTS: A total of 947 women with TPL were enrolled. First-line tocolysis was administered to 822 (86.8%) patients. As a first-line tocolysis, beta-agonists were used most frequently (510/822, 62.0%), followed by magnesium sulfate (183/822, 22.3%), calcium channel blockers (91/822, 11.1%), and atosiban (38/822, 4.6%). Of the 822 women with first-line tocolysis, second-line tocolysis were required in 364 (44.3%). Of 364 with second-line, 199 had third-line tocolysis (37.4%). Antibiotics were administered to 29.9% of patients (284/947) with single (215, 22.7%), dual (26, 2.7%), and triple combinations (43, 4.5%). Corticosteroids were administered to 420 (44.4%) patients. Betamethasone was administered to 298 patients (71.0%), and dexamethasone was administered to 122 patients (29.0%). CONCLUSION: Practice patterns in the management of TPL in Korea were quite various. It is needed to develop standardized practice guidelines for TPL management.
Adrenal Cortex Hormones ; Anti-Bacterial Agents ; Back Pain ; Betamethasone ; Calcium Channel Blockers ; Dexamethasone ; Diagnosis ; Female ; Humans ; Korea ; Magnesium Sulfate ; Muscle Cramp ; Obstetric Labor, Premature* ; Physician's Practice Patterns ; Pregnancy ; Pregnancy Outcome ; Pregnant Women ; Premature Birth ; Retrospective Studies* ; Tocolysis ; Tocolytic Agents ; Uterine Contraction ; Vaginal Discharge

Desmoid tumors are rare soft tissue tumors considered to have locally infiltrative features without distant metastasis until now. Although they are most commonly intraabdominal, very few cases have extra-abdominal locations. The origin of intrathoracic desmoid tumors is predominantly the chest wall with occasional involvement of pleura. True intrathoracic primary desmoid tumors with no involvement of the chest wall or pleura are extremely rare. We recently experienced a case of true intrathoracic desmoid tumor presenting as multiple lung nodules at 13 years after resection of a previous intraabdominal desmoid tumor.
Abdominal Wall* ; Fibromatosis, Aggressive* ; Lung* ; Multiple Pulmonary Nodules ; Neoplasm Metastasis ; Pleura ; Thoracic Wall ; Thorax

BACKGROUND/AIMS: This study was performed to compare the mucosal findings after esophagogastroduodenoscopy in two groups before and after the use of alendronate only and following administration of the enteric-coated alendronate (5 mg) and calcitriol (0.5 microg) combined drug (Maxmarvil, Yuyu Co.). METHODS: The study population consisted of 33 postmenopausal healthy female volunteers, aged 50 to 70 years (mean age, 58 +/- 5) without gastrointestinal symptoms and with normal baseline endoscopic findings. Esophagogastroduodenoscopy was performed at baseline and was repeated 2 weeks later after daily intake of Maxmarvil (n = 17 subjects) or alendronate only (n = 16 subjects). Mucosal injury scores were reported by an endoscopist after 2 weeks of treatment with each medication schedule. RESULTS: Esophageal mucosal injuries developed in two of 16 subjects in the alendronate only group and 0 of 17 in the Maxmarvil group. Gastric mucosal injuries developed in eight subjects in the alendronate group and four subjects in the Maxmarvil group; this difference was statistically significant. CONCLUSIONS: The mucosal damage scores for the alendronate group (total score 24) were significantly higher than those for the Maxmarvil group (total score 9) in the esophagus and stomach. Therefore, this study suggested that enteric-coated Maxmarvil is less harmful to gastrointestinal mucosa than alendronate, and may improve the tolerability of osteoporosis medication in clinical practice.
Administration, Oral ; Age Factors ; Aged ; Alendronate/administration & dosage/*adverse effects ; Bone Density Conservation Agents/administration & dosage/*adverse effects ; Calcitriol/administration & dosage/*adverse effects ; Drug Combinations ; *Endoscopy, Digestive System ; Esophagus/*drug effects/pathology ; Female ; Gastric Mucosa/*drug effects/pathology ; Humans ; Middle Aged ; *Postmenopause ; Predictive Value of Tests ; Republic of Korea ; Sex Factors ; Tablets, Enteric-Coated ; Time Factors ; Treatment Outcome ; Vitamins/administration & dosage/*adverse effects