PURPOSE: The 1p36 deletion syndrome is a microdeletion syndrome characterized by developmental delays/intellectual disability, craniofacial dysmorphism, and other congenital anomalies. To date, many cases of this syndrome have been reported worldwide. However, cases with this syndrome have not been reported in Korean populations anywhere. This study was performed to report the clinical and molecular characteristics of five Korean patients with the 1p36 deletion syndrome. METHODS: The clinical characteristics of the 5 patients were reviewed. Karyotyping and multiplex ligation-dependent probe amplification (MLPA) analyses were performed for genetic diagnoses. RESULTS: All 5 patients had typical dysmorphic features including frontal bossing, flat right parietal bone, low-set ears, straight eyebrows, down-slanting palpebral fissure, hypotelorism, flat nasal roots, midface hypoplasia, pointed chins, small lips, and variable degrees of developmental delay. Each patient had multiple and variable anomalies such as a congenital heart defect including ventricular septal defect, atrial septal defect, and patent duct arteriosus, ventriculomegaly, cryptorchism, or hearing loss. Karyotyping revealed the 1p36 deletion in only 1 patient, although it was confirmed in all 5 patients by MLPA analyses. CONCLUSION: All the patients had the typical features of 1p36 deletion. These hallmarks can be used to identify other patients with this condition in their early years in order to provide more appropriate care.
Chin ; Cryptorchidism ; Developmental Disabilities ; Diagnosis ; Ear ; Eyebrows ; Hearing Loss ; Heart Defects, Congenital ; Heart Septal Defects, Atrial ; Heart Septal Defects, Ventricular ; Humans ; Karyotyping ; Lip ; Male ; Multiplex Polymerase Chain Reaction ; Parietal Bone

WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome is a rare contiguous gene deletion syndrome caused by deleting genes including WT1 and PAX6 genes in 11p13 region, which is characterized by Wilms tumor, aniridia, genitourinary abnormalities, and intellectual disability. We report the clinical and cytogenetic characteristics of one Korean patient with WAGR syndrome. The patient shows bilateral sporadic aniridia and genital anomalies at 2 months of age. A heterozygous 14.5 Mb interstitial deletion of 11p14.3p12 region was detected by array comparative genomic hybridization. At 2 years and 10 months of age, Wilms tumor is found through regularly abdominal ultrasonography and treated by chemotherapy, radiation therapy and surgery.
Aniridia ; Comparative Genomic Hybridization ; Cytogenetics ; Drug Therapy ; Gene Deletion ; Humans ; Intellectual Disability ; Ultrasonography ; Urogenital Abnormalities ; WAGR Syndrome* ; Wilms Tumor*

Percutaneous needle aspiration biopsy is a relatively simple and safe procedure for the diagnosis of lung and mediastinal lesions. Systemic air embolism during and after percutaneous needle aspiration biopsy of the lung is very rare; however, it is still a complication that can cause fatal outcomes, such as cerebral infarction and myocardial infarction. Here, we report a 72-year-old woman who suffered a change in consciousness immediately after receiving a percutaneous needle aspiration biopsy for the pathologic examination of pulmonary nodules found during a routine health medical examination. She had left side weakness and ST segment elevation on an electrocardiogram. After a high concentration of oxygen, she recovered from neurological symptoms and electrocardiographic abnormalities. The authors report a case of air embolism occurring simultaneously in the brain and coronary arteries after percutaneous needle aspiration biopsy.
Aged ; Biopsy ; Biopsy, Needle* ; Brain ; Cerebral Infarction ; Consciousness ; Coronary Vessels ; Diagnosis ; Electrocardiography ; Embolism ; Embolism, Air* ; Fatal Outcome ; Female ; Humans ; Intracranial Embolism ; Lung* ; Myocardial Infarction ; Needles* ; Oxygen

An aortoesophageal fistula is one of the very few causes of upper gastrointestinal bleeding but can be fatal if the diagnosis is delayed. This usually occurs secondary to esophageal or aortic surgery. A primary aortoesophageal fistula is rare and less likely to be suspected. Here, we present a case of a primary aortoesophageal fistula that presented as massive upper gastrointestinal bleeding. An 81-year-old man with a history of aortic aneurysm had syncope and bright color hematemesis. The aortoesophageal fistula was not diagnosed early enough and the patient died. Therefore, emergency physicians should consider aortoesophageal fistula as a potential cause when encountering upper gastrointestinal bleeding.
Aged, 80 and over ; Aortic Aneurysm ; Diagnosis ; Emergencies ; Esophageal Fistula ; Fistula* ; Gastrointestinal Hemorrhage ; Hematemesis ; Hemorrhage* ; Humans ; Syncope

Turner syndrome is one of the most common chromosomal disorders. It is caused by numerical or structural abnormalities of the X chromosome and results in short stature and gonadal dysgenesis. The short stature arises from haploinsufficiency of the SHOX gene, whereas overdosage contributes to tall stature. This report describes the first Korean case of Turner syndrome with tall stature caused by SHOX overdosage. The patient presented with primary amenorrhea and hypergonadotropic hypogonadism at the age of 17 years. Estrogen replacement therapy was initiated at that time. She displayed tall stature from childhood, with normal growth velocity, and reached a final height of 190 cm (standard deviation score, 4.3) at the age of 30 years. Her karyotype was 46,X, psu idic(X)(q21.2), representing partial monosomy of Xq and partial trisomy of Xp. Analysis by multiplex ligation-dependent probe amplification detected a duplication at Xp22.3-Xp22.2, encompassing the PPP2R3 gene near the 5'-end of the SHOX gene through the FANCD gene at Xp22.2.
Amenorrhea ; Chromosome Deletion ; Chromosome Disorders ; Estrogen Replacement Therapy ; Female ; Gonadal Dysgenesis ; Haploinsufficiency ; Humans ; Hypogonadism ; Karyotype ; Multiplex Polymerase Chain Reaction ; Trisomy ; Turner Syndrome* ; X Chromosome

This study elucidates the anti-cancer potential of gallic acid (GA) as a promising therapeutic agent that exerts its effect by regulating the PI3K/Akt pathway. To prove our research rationale, we used diverse experimental methods such as cell viability assay, colony formation assay, tumor spheroid formation assay, cell cycle analysis, TUNEL assay, Western blot analysis, xenograft mouse model and histological analysis. Treatment with GA inhibited cell proliferation in dose-dependent manner as measured by cell viability assay at 48 h. GA and cisplatin (CDDP) also inhibited colony formation and tumor spheroid formation. In addition, GA and CDDP induced apoptosis, as determined by the distribution of early and late apoptotic cells and DNA fragmentation. Western blot analysis revealed that inhibition of the PI3K/Akt pathway induced upregulation of p53 (tumor suppressor protein), which in turn regulated cell cycle related proteins such as p21, p27, Cyclin D1 and E1, and intrinsic apoptotic proteins such as Bax, Bcl-2 and cleaved caspase-3. The anti-cancer effect of GA was further confirmed in an in vivo mouse model. Intraperitoneal injection with GA for 4 weeks in an A549-derived tumor xenograft model reduced the size of tumor mass. Injection of them downregulated the expression of proliferating cell nuclear antigen and p-Akt, but upregulated the expression of cleaved caspase-3 in tumor tissues. Taken together, these results indicated that GA hindered lung cancer progression by inducing cell cycle arrest and apoptosis, suggesting that GA would be a potential therapeutic agent against non-small cell lung cancer.

Objective: The number of elderly patients in Korea has been on the rise recently, and hence the number of out-of-hospital cardiac arrest (OHCA) elderly patients is also rising. The causes of cardiac arrest for the elderly vary, and, it is difficult to predict the recovery of spontaneous circulation (ROSC) in OHCA patients. Therefore, the purpose of this study was to ascertain the predictive value of arterial blood gas analysis (ABGA) results in achieving ROSC in the elderly. Methods: A retrospective analysis of emergency department patients with OHCA was performed at the Kangwon National University Hospital, Korea from 1 January 2016 to 31 December 2019. The initial ABGA results were compared between two patient groups, those who had achieved a return of spontaneous circulation and those who had not. Univariate and multivariable analyses were performed to elucidate the factors associated with ROSC. Results: Overall, 229 OHCA patients were included in the final analysis. The lactate level was independently related to ROSC. A receiver operating characteristics (ROC) curve was plotted to obtain the best cutoff value. The lactate level <9.85 mmol/L showed the largest area under the ROC curve (AUC) to predict ROSC (AUC, 0.666; 95% confidence interval, 0.588-0.743). Multiple regression analysis was performed using the cutoff value, which was a lactate level of 9.85 (odds ratio, 2.907; 95% confidence interval, 1.432-5.902; P=0.003). Conclusion The ABGA results during the cardiopulmonary resuscitation of OHCA patients, showed that the lactate level was an independent factor associated with ROSC. The lactate cutoff value was 9.85 mmol/L.

Objective: The number of elderly patients in Korea has been on the rise recently, and hence the number of out-of-hospital cardiac arrest (OHCA) elderly patients is also rising. The causes of cardiac arrest for the elderly vary, and, it is difficult to predict the recovery of spontaneous circulation (ROSC) in OHCA patients. Therefore, the purpose of this study was to ascertain the predictive value of arterial blood gas analysis (ABGA) results in achieving ROSC in the elderly. Methods: A retrospective analysis of emergency department patients with OHCA was performed at the Kangwon National University Hospital, Korea from 1 January 2016 to 31 December 2019. The initial ABGA results were compared between two patient groups, those who had achieved a return of spontaneous circulation and those who had not. Univariate and multivariable analyses were performed to elucidate the factors associated with ROSC. Results: Overall, 229 OHCA patients were included in the final analysis. The lactate level was independently related to ROSC. A receiver operating characteristics (ROC) curve was plotted to obtain the best cutoff value. The lactate level <9.85 mmol/L showed the largest area under the ROC curve (AUC) to predict ROSC (AUC, 0.666; 95% confidence interval, 0.588-0.743). Multiple regression analysis was performed using the cutoff value, which was a lactate level of 9.85 (odds ratio, 2.907; 95% confidence interval, 1.432-5.902; P=0.003). Conclusion The ABGA results during the cardiopulmonary resuscitation of OHCA patients, showed that the lactate level was an independent factor associated with ROSC. The lactate cutoff value was 9.85 mmol/L.

BACKGROUND AND OBJECTIVES: In the past, subacute thyroiditis causing thyrotoxicosis included both painful and painless subgroup, but it is representative for the painful subacute thyroiditis these days. So we evaluated the clinical and laboratory characteristics of subacute thyroiditis and compared with the painless (silent) thyroiditis, and identified predictive factors of permanent hypothyroidism and recurrence. MATERIALS AND METHODS: This was a retrospective case series study analyzing clinical data of 221 consecutive patients diagnosed between 2009 and 2015. Medical records were reviewed for diagnostic route, age distribution, laboratory data, clinical course and long-term follow up outcome. RESULTS: The mean age was 48 years; female v/s male ratio 3.4:1. Median disease duration was 110 days; mean peak free T4 level was 2.9 ng/dL. 56.7% of painless thyroiditis patients were diagnosed on health checkup or routine thyroid function test with symptoms not typically associated with thyrotoxicosis. Permanent hypothyroidism was not uncommon (11/221; 5.0%). Higher peak thyroid-stimulating hormone (TSH) was associated with permanent hypothyroidism in painless thyroiditis. Lower peak TSH was associated with recurrence rate in both subacute and painless thyroiditis. In painless thyroiditis, short duration of thyrotoxicosis phase was also associated with recurrence rate. CONCLUSION: Considerable numbers of painless thyroiditis without symptoms were diagnosed on health checkup. Higher peak TSH was associated with permanent hypothyroidism in painless thyroiditis. Recurrence rate was related with lower peak TSH in both groups.
Age Distribution ; Female ; Follow-Up Studies ; Humans ; Hypothyroidism ; Male ; Medical Records ; Postpartum Thyroiditis ; Recurrence ; Retrospective Studies ; Thyroid Function Tests ; Thyroid Gland* ; Thyroiditis* ; Thyroiditis, Subacute* ; Thyrotoxicosis ; Thyrotropin