419 research outputs found

    Clear Cell Hidradenoma of the Axilla: a Case Report with Literature Review

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    Clear cell hidradenoma is an uncommon benign skin appendageal tumor that typically involves the dermal layer of the head, face, and extremities. The breast is a rare site for this lesion, with only two documented cases, which were determined based on mammogram and sonogram findings. We present a case of clear cell hidradenoma of the axillary tail with radiological findings and a literature review

    Diagnostic Value of 3D Fast Low-Angle Shot Dynamic MRI of Breast Papillomas

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    Purpose: To evaluate the value of breast MRI in analysis of papillomas of the breast. Materials and Methods: From 1996 to 2004, 94 patients underwent surgery due to papillomas of the breast. Among them, 21 patients underwent 3D fast low angle shot (FLASH) dynamic breast MRI. Eight masses were palpable and 11 of 21 patients had nipple discharge. Two radiologists indifferently analyzed the location, size of the lesions and shape, margin of the masses, multiplicity and ductal relation. The MRI findings were categorized according to breast imaging reporting and data system (BI-RADS) lexicon. The amount and pattern of enhancement and associated findings were also evaluated according to BI-RADS. We then compared the MRI findings with galactography, mammography and breast ultrasonography (US) and examined histopathologic correlation. Results: On breast MRI, the lesion size was 0.4-1.59 cm, and 18 patients showed subareolar location. On 4.25 cm (mean 1.54) dynamic enhanced images, imaging findings showed mass (n = 10), intracystic mass (n = 3), focus (n = 5), ductal enhancement (n = 2), and segmental enhancement (n = 1). In cases of the masses, the shapes of the masses were roun

    Novel next generation sequencing panel method for the multiple detection and identification of foodborne pathogens in agricultural wastewater

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    Detecting and identifying the origins of foodborne pathogen outbreaks is a challenging. The Next-Generation Sequencing (NGS) panel method offers a potential solution by enabling efficient screening and identification of various bacteria in one reaction. In this study, new NGS panel primer sets that target 18 specific virulence factor genes from six target pathogens (Bacillus cereus, Yersinia enterocolitica, Staphylococcus aureus, Vibrio cholerae, Vibrio parahaemolyticus, and Vibrio vulnificus) were developed and optimized. The primer sets were validated for specificity and selectivity through singleplex PCR, confirming the expected amplicon size. Crosscheck and multiplex PCR showed no interference in the primer set or pathogenic DNA mixture. The NGS panel analysis of spiked water samples detected all 18 target genes in a single reaction, with pathogen concentrations ranging from 108 to 105 colony-forming units (CFUs) per target pathogen. Notably, the total sequence read counts from the virulence factor genes showed a positive association with the CFUs per target pathogen. However, the method exhibited relatively low sensitivity and occasional false positive results at low pathogen concentrations of 105 CFUs. To validate the detection and identification results, two sets of quantitative real-time PCR (qPCR) analyses were independently performed on the same spiked water samples, yielding almost the same efficiency and specificity compared to the NGS panel analysis. Comparative statistical analysis and Spearman correlation analysis further supported the similarity of the results by showing a negative association between the NGS panel sequence read counts and qPCR cycle threshold (Ct) values. To enhance NGS panel analysis for better detection, optimization of primer sets and real-time NGS sequencing technology are essential. Nonetheless, this study provides valuable insights into applying NGS panel analysis for multiple foodborne pathogen detection, emphasizing its potential in ensuring food safety

    Results of Air Caloric and Other Vestibular Tests in Patients with Chronic Otitis Media

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    ObjectivesAir caloric results are supposed to be influenced by anatomic changes of the middle ear. The aims of our study were to evaluate the incidence and characteristics of abnormal air caloric results in patients with unilateral chronic otitis media and without any history of vertigo, and to compare caloric results with there of other vestibular function tests (VFTs).MethodsTwenty five patients with unilateral chronic otitis media (COM) who were scheduled for surgery underwent VFTs preoperatively. Hearing was assessed using pure-tone audiometry and vestibular function was assessed using a set of VFTs: air caloric, head-shaking nystagmus (HSN), vibration-induced nystagmus (VIN), and subjective visual vertical (SVV) tests.ResultsSix patients (24%) showed pathologic canal paresis (CP) on COM-sided ears. Two patients showed pathologic CP on the contralateral side. However, both of the two showed inverted nystagmus to warm air stimulation on the COM-side and hyperactive nystagmus to cold air stimulation on the COM-side, which means that the COM-sided ear was stimulated too much. There was pathologic HSN in 12 patients (48%), pathologic VIN in 7 (28%), and pathologic SVV in 5 (20%). Overall, 20 (80%) patients showed abnormal findings through a set of VFTs. Patients with an interaural difference of bone-conduction hearing thresholds ≥10 dB tended to show more abnormal VFT results than those for whom the interaural difference of bone-conduction hearing thresholds was <10 dB.ConclusionOur data show that one-fourth of patients with unilateral COM show abnormal caloric results on the COM side. However, subclinical latent vestibular imbalances were found to be common, which might be related to the gradual vestibular involvement in inflammatory processes, regardless of the caloric results. Results of a set of VFTs should be referred to when determining vestibular imbalance in patients with COM

    A Case of Shwachman-Diamond Syndrome Confirmed with Genetic Analysis in a Korean Child

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    Shwachman-Diamond syndrome (SDS) is an autosomal recessive genetic disorder, consisting of exocrine pancreatic insufficiency, chronic neutropenia, neutrophil chemotaxis defects, metaphyseal dysostosis, short stature, dental caries, and multiple organ involvements. Although SDS is the second most common hereditary abnormality of exocrine pancreas following cystic fibrosis in the Western countries, it has rarely been reported in Asia. We diagnosed a case of SDS in a 42-month-old girl, and genetic analysis including the relatives of the patient confirmed the diagnosis for the first time in Korea. She had short stature, steatorrhea, dental caries, and recurrent prulent otitis media and pneumonias. Laboratory studies revealed cyclic neutropenia, and serum levels of trypsin, amylase, and lipase were decreased. Simple radiography revealed metaphyseal sclerotic changes at the distal femur. A CT scan demonstrated a fatty infiltration and atrophy of the pancreas. On direct sequencing analysis of Shwachman-Bodian-Diamond Syndrome gene exon 2 region, the patient was homozygous for the c.258+2T>C mutation and heterozygous for the c.183_184TA>CT mutation and c.201A>G single nucleotide polymorphism. Treatment with pancreatic enzyme replacement, multivitamin supplementation, and regular to high fat diet improved her weight gain and steatorrhea

    A Case of Spontaneous Coronary Artery Dissection Healed by Medical Treatment: Serial Findings of Coronary Angiography, Intravascular Ultrasound and Multi-Detector Computed Tomography

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    Spontaneous coronary artery dissection (SCAD) is an uncommon cause of acute coronary syndrome which may be related to lethal condition. Although several modalities including medical therapy have been suggested, agreement on optimal treatment has not yet been determined. We describe a case of SCAD which was presented as ST-segment elevation myocardial infarction, and treated successfully with medical treatment. Coronary angiography, intravascular ultrasound and multi-detector computed tomography showed the serial changes of this disease entity

    Extracardiac Fontan with T-shape conduit in non-confluent pulmonary arteries

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    A 34 months-old male patient with double inlet right ventricle with nonconfluent pulmonary arteries who underwent successful extracardiac fenestarated Fontan procedure using pre-designed T-shaped PTFE vascular graft after multi-step rehabilitation of the diminutive hilar pulmonary arteries. At first we performed 6 mm confluent pulmonary artery vascular graft implantation with 4 mm BT shunt at patient's 4 weeks old. At 9 months of patient, we upsized the confluent pulmonary arterial graft to 8 mm with bidirectional cavopulmonary connection, and, at 34 months, we performed extracardiac conduit Fontan procedure with pre-designed T-shape conduit including the confluent pulmonary arterial portion at last. Patient shows excellent functional status and development

    Caloric restriction of db/db mice reverts hepatic steatosis and body weight with divergent hepatic metabolism

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    Non-alcoholic fatty liver disease (NAFLD) is one of the most frequent causes of liver disease and its prevalence is a serious and growing clinical problem. Caloric restriction (CR) is commonly recommended for improvement of obesity-related diseases such as NAFLD. However, the effects of CR on hepatic metabolism remain unknown. We investigated the effects of CR on metabolic dysfunction in the liver of obese diabetic db/db mice. We found that CR of db/db mice reverted insulin resistance, hepatic steatosis, body weight and adiposity to those of db/m mice. H-NMR- and UPLC-QTOF-MS-based metabolite profiling data showed significant metabolic alterations related to lipogenesis, ketogenesis, and inflammation in db/db mice. Moreover, western blot analysis showed that lipogenesis pathway enzymes in the liver of db/db mice were reduced by CR. In addition, CR reversed ketogenesis pathway enzymes and the enhanced autophagy, mitochondrial biogenesis, collagen deposition and endoplasmic reticulum stress in db/db mice. In particular, hepatic inflammation-related proteins including lipocalin-2 in db/db mice were attenuated by CR. Hepatic metabolomic studies yielded multiple pathological mechanisms of NAFLD. Also, these findings showed that CR has a therapeutic effect by attenuating the deleterious effects of obesity and diabetes-induced multiple complications

    Morning Glory Syndrome associated with Autosomal Dominant Alport Syndrome with a Heterozygous Mutation

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    Morning glory syndrome (MGS) is a rare congenital optic disc anomaly with a characteristic fundal finding with severe visual impairment. It may occur in association with various systemic manifestations, even though most of the reported cases were isolated. A 6-year-old male visited the nephrology clinic with a history of microscopic hematuria and at the age of 12 years, he was diagnosed thin glomerular basement membrane nephropathy by kidney biopsy. After the following years, the patient had progressive deterioration of visual acuity, and diagnosed as MGS. Whole Exome Sequencing of this patient and his mother revealed heterozygous COL4A4 mutations [c.81_86del (p.Ile29_Leu30del)]. It is more reasonable to consider MGS seen in this patient as a coincidental finding of autosomal dominant Alport syndrome. To our knowledge, this case represents the first case report of autosomal dominant Alport syndrome associated with MGS

    The serum vitamin D level is inversely correlated with nonalcoholic fatty liver disease

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    Background/Aims:A low vitamin D level has been associated with metabolic syndrome and diabetes. However, an association between a low vitamin D level and nonalcoholic fatty liver disease (NAFLD) has not yet been definitively established. This study aimed to characterize the relationship between a vitamin D level and NAFLD in Korea. Methods:A cross-sectional study involving 6,055 health check-up subjects was conducted. NAFLD was diagnosed on the basis of typical ultrasonographic findings and a history of alcohol consumption. Results:The subjects were aged 51.7±10.3 years (mean±SD) and 54.7% were female. NAFLD showed a significant inverse correlation with the vitamin D level after adjusting for age and sex [odds ratio (OR)=0.85, 95% confidence interval (CI)=0.75–0.96]. The age- and sex-adjusted prevalence of NAFLD decreased steadily with increasing vitamin D level [OR=0.74, 95% CI=0.60–0.90, lowest quintile (≤14.4 ng/mL) vs highest quintile (≥28.9 ng/mL), p for trend 20 ng/mL) [OR=0.86, 95% CI=0.75-0.99] and the quintiles of the vitamin D level in a dose-dependent manner (p for trend=0.001). Conclusions:The serum level of vitamin D, even when within the normal range, was found to be inversely correlated with NAFLD in a dose-dependent manner. Vitamin D was found to be inversely correlated with NAFLD independent of known metabolic risk factors. These findings suggest that vitamin D exerts protective effects against NAFLD
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