BACKGROUND: The aim of this study was to investigate the status of BRCA1/2 genetic testing practices in Korea in 2014. METHODS: A structured questionnaire was provided to the specialist in charge of BRCA1/2 genetic testing via e-mail between 28 July and 10 August 2015. A total of 11 genetic testing professionals from 14 organizations responded to the survey that asked about the status of BRCA1/2 genetic testing in the year 2014. RESULTS: The average number of BRCA1/2 genetic tests executed was 192; 6 organizations had executed less than 100 tests, and 5 organizations had conducted more than 100 tests. The primary testing method used was Sanger sequencing (100%), and 2 institutes performed multiplex ligation-dependent probe amplification (MLPA). The analysis software differed across the various organizations, with Sequencher (81.81%), Seqscape (27.27%), and Codoncode Aligner (9.09%) reported as utilized. We found that the guidelines for the interpretation of the genetic tests were different at each institution. CONCLUSIONS: Although this study only examined the status of the 2014 BRCA1/2 genetic testing practices of 11 institutions, it illustrates the necessity for standardized genetic testing or interpretation guidelines in Korea.
Academies and Institutes ; Electronic Mail ; Genetic Testing* ; Korea* ; Methods ; Multiplex Polymerase Chain Reaction ; Specialization ; Surveys and Questionnaires

BACKGROUND AND PURPOSE: Acetylcholinesterase inhibitors (AChEIs) are widely used to treat myasthenia gravis (MG). Although AChEIs are usually tolerated well, some MG patients suffer from side effects. Furthermore, a small proportion of MG patients show cholinergic hypersensitivity and cannot tolerate AChEIs. Because repetitive compound muscle action potentials (R-CMAPs) are an electrophysiologic feature of cholinergic neuromuscular hyperactivity, we investigated the clinical characteristics of MG patients with R-CMAPs to identify their clinical usefulness in therapeutic decision-making. METHODS: We retrospectively reviewed the clinical records and electrodiagnostic findings of MG patients who underwent electrodiagnostic studies and diagnostic neostigmine testing (NT). RESULTS: Among 71 MG patients, 9 could not tolerate oral pyridostigmine bromide (PB) and 17 experienced side effects of PB. R-CMAPs developed in 24 patients after NT. The highest daily dose of PB was lower in the patients with R-CMAPs (240 mg/day vs. 480 mg/day, p<0.001). The frequencies of PB intolerance and side effects were higher in the patients with R-CMAPs than in those without R-CMAPs [37.5% vs. 0% (p<0.001) and 45.8% vs. 12.8% (p=0.002), respectively]. The MG Foundation of America postintervention status did not differ significantly between MG patients with and without R-CMAPs, and the response to immunotherapy was also good in both groups. CONCLUSIONS: Side effects of and intolerance to AChEIs are more common in MG patients with R-CMAPs than in those without R-CMAPs. AChEIs should be used carefully in MG patients with R-CMAPs. The presence of R-CMAPs after NT may be a good indicator of the risks of PB side effects and intolerance.
Acetylcholinesterase* ; Action Potentials* ; Americas ; Cholinesterase Inhibitors* ; Humans ; Hypersensitivity ; Immunotherapy ; Myasthenia Gravis* ; Neostigmine ; Pyridostigmine Bromide ; Retrospective Studies

PURPOSE: Although the American Academy of Pediatrics provides clinical guidelines for urinary tract infection (UTI) infants, guidelines are not appropriate for neonates and infants less than 2 months of age due to insufficient data. The aim of this study was to evaluate the characteristics of neonates and young infants less than 2 months old (group 1) with UTI compared to older infants from 2 to 12 months old (group 2). METHODS: We reviewed UTI patients aged 0 to 12 months admitted to the pediatric department in the last 5 years. Clinical characteristics such as age, sex, fever duration, recurrence, progression to acute pyelonephritis (APN), malformations like hydronephrosis and vesicoureteral reflux (VUR), and laboratory results were compared between group 1 and group 2. RESULTS: 615 patients were included in this study. Group 1 had 94 cases and group 2 had 521 cases. Escherichia coli was the most commonly isolated pathogen in urine cultures. Fever duration was shorter in group 1 (vs.) 2 (1.91+/-1.43 days vs. 3.42+/-2.40 days, P<0.05). As compared to group 2, group 1 had a higher proportion of patients with antenatal hydronephrosis and hydronephrosis found after admission (10.6% vs. 3.6% and 75.5% vs. 55.9%, P<0.05). There were differences between two groups in white blood cell (WBC) count (Group 1: 13,694+/-5,315/microL, Group 2: 15,271+/-6,130/microL, P<0.05) and C-reactive protein (Group 1: 32.02+/-35.17 mg/L, Group 2: 46.51+/-46.63 mg/L, P<0.05). CONCLUSION: Compared to older infants, UTI in neonates and young infants shows milder clinical manifestations except higher rates of hydronephrosis but outcome is alike.
C-Reactive Protein ; Escherichia coli ; Fever ; Humans ; Hydronephrosis ; Infant* ; Infant, Newborn* ; Leukocytes ; Pediatrics ; Pyelonephritis ; Recurrence ; Urinary Tract Infections* ; Urinary Tract* ; Vesico-Ureteral Reflux

Mycoplasma pneumoniae is known to be a common respiratory pathogen in children and adolescents. It rarely causes neurologic complications, such as meningitis, encephalitis and cerebellar ataxia, in some patients as extrapulmonary manifestations. Neurologic symptoms, such as impairment of consciousness, seizure and paralysis, in the early stage. We report a case of lobar pneumoia caused by M. pneumoniae which was complicated with status epilepticus and encephalopathy.
Adolescent ; Cerebellar Ataxia ; Child ; Consciousness ; Encephalitis ; Humans ; Meningitis ; Mycoplasma pneumoniae ; Mycoplasma* ; Neurologic Manifestations ; Paralysis ; Pneumonia ; Pneumonia, Mycoplasma* ; Seizures ; Status Epilepticus*

Tuberculosis of the hand and wrist account for less than 1 percent of musculoskeletal tuberculosis cases, and carpal tunnel syndrome secondary to tuberculosis is very rare. Because the symptoms of tuberculosis of the hand and wrist mimic those of rheumatoid synovitis or non-specific chronic synovitis, the final diagnosis and the appropriate treatment may be delayed. We describe the case of a patient who presented with carpal tunnel syndrome secondary to tuberculous tenosynovitis.
Carpal Tunnel Syndrome* ; Diagnosis ; Hand ; Humans ; Synovitis ; Tenosynovitis* ; Tuberculosis ; Wrist

Hemangiopericytoma is a rare kind of soft tissue tumor. It usually attacks adults without distinction of sex. In most cases, slowly enlarging mass is a chief complaint of patient and symptoms such as tenderness and pain are rare. It is known to frequently attack the lower extremity, especially thigh, pelvic fossa and retroperitoneum, and in rare cases, trunk and upper extremity. In this paper, we report a 47-ear-old female patient with primary orbital hemangiopericytoma in right upper eyelid. Before operation, we found oval-shaped tumor which had a vivid boundary, from the orbital CT and MRI. During the operation, we found an ovoid mass(about 2.6 X 2 X 1 cm) surrounded by a thin capsule on the upper eyelid medial portion. By H&E stain after operation, we found a "staghorn" configuration- haped blood vessel distribution. In an immunohistochemical stain test using factor VIII-related antigen, this tumor was not originated from endotheliumm, but from vessel. In Gomori's reticulin stain test, we confirmly diagnosed these tumor cells as hemangiopericytoma, since these cells were arranged around the vessel, surrounded by a reticulin fiber. She had no symptom of recurrence after operation. As hemangiopericytoma is not frequently developed in an orbital area, we report this case in this paper.
Adult ; Blood Vessels ; Eyelids ; Female ; Hemangiopericytoma* ; Humans ; Lower Extremity ; Magnetic Resonance Imaging ; Orbit* ; Recurrence ; Reticulin ; Thigh ; Upper Extremity ; von Willebrand Factor

Acute gastric volvulus is extremely rare emergency surgical condition by abnormal rotation of stomach. It presents a puzzling picture which makes early diagnosis difficult, yet surgical interference must be accomplished early if life is to be saved. Gastric volvulus can be classified anatomically as organoaxial or mesenteroaxial. The symptoms triad of gastric volvulus are severe nausea with a paradoxical inability to vomiting, localized epigastric pain and impossibility of introducing a gastric tube. The diagnosis of it may be suspected on plain radiographic examination of the abdomen and symptoms, it is confirmed by specific findings on the upper gastrointestinal series. We experienced a case of mesenteroaxial type of acute gastric volvulus associated with diaphragmatic eventration. We treated this patient with reduction of volvulus, repair of diaphragmatic eventration, gastrojejunostomy and gastropexy. The authors report this case with a brief review of recent literatures.
Abdomen ; Diagnosis ; Diaphragmatic Eventration* ; Early Diagnosis ; Emergencies ; Gastric Bypass ; Gastropexy ; Humans ; Intestinal Volvulus ; Nausea ; Stomach ; Stomach Volvulus* ; Vomiting

PURPOSE: Airways eosinophilia and increased IgE, characteristic features of asthma, result from a predominant Th2 response. In this study, we investigated the effect of CpG oligodeoxynucleotides (ODNs) on the inhibition of airways eosinophilia in mice with established airway inflammation. We also investigated the immunological mechanisms involved. METHODS: Groups of BALB/c mice were sensitized intradermally with ovalbumin(OVA). At week 10, airway inflammation was induced by intranasal challenge of the mice with OVA. At week 14, the mice were challenged intranasally again with OVA in the presence and without the presence of CpG ODNs. Mice with saline administration served as negative controls. Bronchoalveolar lavage fluids(BALF) were obtained and eosinophils were counted. Th1 and Th2 cytokines in the spleen cell cultures were measured by ELISA. Serum OVA-specific IgE and IgG2a antibodies were also measured by ELISA. RESULTS: BALF eosinophils were significantly inhibited in the CpG ODNs-treated mice(P<0.01). IgE and IgG2a levels increased significantly in both CpG ODNs-treated and untreated groups as compared to the negative control group; there was, however, no significant difference between the two groups four days after intranasal administration of CpG ODNs. Cytokine analysis revealed decreased production of IL-4, IL-5, and IL-13 and increased production of IL-12 in the CpG ODNs-treated group as compared to the untreated group. Interestingly, IFN-gamma levels were not upregulated in the CpG ODNs-treated group. CONCLUSION: CpG ODNs vaccination is a potentially useful approach for reversing airways eosinophilia in mice with established airways inflammation.
Administration, Intranasal ; Animals ; Antibodies ; Asthma ; Bronchoalveolar Lavage ; Cell Culture Techniques ; Cytokines ; Enzyme-Linked Immunosorbent Assay ; Eosinophilia ; Eosinophils ; Immunoglobulin E ; Immunoglobulin G ; Inflammation* ; Interleukin-12 ; Interleukin-13 ; Interleukin-4 ; Interleukin-5 ; Mice* ; Oligodeoxyribonucleotides* ; Ovum ; Spleen ; Vaccination

Exocrine glands secrete large volumes of fluid in response to neural or hormonal stimulation. In the present studies, we examined the immunolocalization of AQP1-5 in salivary glands of rat to clarify the potential roles of these for fluid secretion. Immunohistochemistry using cryosections of rat submandibular glands revealed that AQP1 was located in the capillary endothelia between secretory gland cells. Secretory gland cells and ductal cells were not labeled with anti-AQP1, AQP2 and AQP3 were not present in either salivary gland cells, intercalated ductal cells or striated ducts. AQP4 was localized in the basolateral plasma membrane domains of the intercalated ductal cells in rat submandibular glands whereas either secretory gland cells or striated ducts were not labeled. AQP5 was abundant in the apical domains of the secretory gland cells as well as of the secretory canaliculi and intercalated ductal cells, consistent with RT-PCR analyses as well as previous data (Nielsen et al., 1997). Importantly, AQP5 labeling was associated with the apical part of the secretory gland cells, raising the possibility for trafficking of AQP5 from intracellular vesicles to the apical plasma membranes following neuronal or hormonal stimulation. In parotid and sublingual glands, the immunolabeling pattern of AQPs was identical with that seen in submandibular glands, while the AQP5 immunolabeling was sparse in the sublingual glands which is mainly composed of mucinous glands. In conclusion, the basolateral localization of AQP4 in the intercalated ductal cells and presence of AQP5 in the apical plasma membrane of secretory acinar cells, canaliculi and intercalated ductal cells of submandibular gland suggest that both AQP4 and AQP5 may provide a critical pathway for osmotic water flow into the secreted fluid.
Acinar Cells ; Animals ; Capillaries ; Cell Membrane ; Critical Pathways ; Exocrine Glands ; Immunohistochemistry ; Mucins ; Neurons ; Rats* ; Salivary Glands* ; Sublingual Gland ; Submandibular Gland ; Water

Hypoglossia-hypodactylia syndrome is a congenital disease which is characterized by severe micrognathia, hypoglossia and various anomalies of extremities. This was first reported as 'aglossia congenita' back in 1932 by Rosenthal, and has been reported many times ever since, but has never been reported in Korea. Hall first used the term 'hypoglossia-hypodactylia syndrome', and classified it as one of the oromandibular-limb hypogenesis syndromes. According to the studies, most of the cases are sporadic, and this is known to be due to the dominant mutant gene. Etiology is still unknown, but a number of theories have been proposed, such as intrauterine damage and vascular distruptive mechanism. We report a case on hypoglossia-hypodactylia syndrome in a male neonate with karyotype showing 46,XY,t(3;19)(q22;p12) with the review of the associated literatures.
Extremities ; Humans ; Infant, Newborn ; Karyotype ; Korea ; Male