Cerebrotendinous xanthomatosis in a 10-year-old male presenting with Achilles tendon xanthoma and mild intellectual disability: A case report

Cerebrotendinous xanthomatosis (CTX) is a rare genetic disease caused by a deficiency of enzymes for the synthesis of bile acid, resulting in the accumulation of cholestanol with reduced chenodeoxycholic acid (CDCA) production and causing various symptoms such as chronic diarrhea in infancy, juvenile cataracts in childhood, tendon xanthomas in adolescence and young adulthood, and progressive neurologic dysfunction in adulthood. Because oral CDCA replacement therapy can effectively prevent disease progression, early diagnosis and treatment are critical in CTX. This study reports the case of CTX in a 10-year-old male who presented with Achilles tendon xanthoma and mild intellectual disability. Biochemical testing showed normal cholesterol and sitosterol levels but elevated cholestanol levels. Genetic testing showed compound heterozygous variants of CYP27A1, c.379C>T (p.Arg127Trp), and c.1214G>A (p.Arg405Gln), which confirmed the diagnosis of CTX. The patient had neither cataracts nor other focal neurologic deficits and showed no abnormalities on brain imaging. The patient received oral CDCA replacement therapy without any adverse effects; thereafter, the cholestanol level decreased and no disease progression was noted. The diagnostic possibility of CTX should be considered in patients with tendon xanthoma and normolipidemic conditions to prevent neurological deterioration.

Disseminated Postnatal Cytomegalovirus Infection in a Preterm Neonate: Autopsy Case Report

Treatment guidelines for postnatal cytomegalovirus (pCMV) infection in preterm have not been established yet. Neutropenia, thrombocytopenia, hepatitis, colitis, and sepsis-like disease are among the clinical manifestations, which range from moderate to serious. We present a case of autopsy diagnosed as pCMV infection in a premature infant delivered at gestational age of 24 weeks and 5 days. On the 7th and 14th days of birth, urinary CMV polymerase chain reaction samples were negative, ruling out congenital CMV infection. However, autopsy examination revealed that the patient had disseminated pCMV infection. CMV inclusion bodies were found in the majority of tissues, including the lung, liver, pancreas, breast, kidney, and adrenal gland, but not the placenta. The thymus exhibited significant cortical atrophy and T-cell immunodeficiency, possibly induced by dexamethasone treatment for bronchopulmonary dysplasia or by pCMV infection itself. If dexamethasone treatment is extended or high doses are considered, it may be beneficial to test the CMV infection status to prevent aggravation of infection. This case demonstrates that, despite the low prevalence, pCMV infection should be considered a differential diagnosis in preterm if other conditions or etiology cannot justify clinical deterioration.

Disseminated Postnatal Cytomegalovirus Infection in a Preterm Neonate: Autopsy Case Report

Treatment guidelines for postnatal cytomegalovirus (pCMV) infection in preterm have not been established yet. Neutropenia, thrombocytopenia, hepatitis, colitis, and sepsis-like disease are among the clinical manifestations, which range from moderate to serious. We present a case of autopsy diagnosed as pCMV infection in a premature infant delivered at gestational age of 24 weeks and 5 days. On the 7th and 14th days of birth, urinary CMV polymerase chain reaction samples were negative, ruling out congenital CMV infection. However, autopsy examination revealed that the patient had disseminated pCMV infection. CMV inclusion bodies were found in the majority of tissues, including the lung, liver, pancreas, breast, kidney, and adrenal gland, but not the placenta. The thymus exhibited significant cortical atrophy and T-cell immunodeficiency, possibly induced by dexamethasone treatment for bronchopulmonary dysplasia or by pCMV infection itself. If dexamethasone treatment is extended or high doses are considered, it may be beneficial to test the CMV infection status to prevent aggravation of infection. This case demonstrates that, despite the low prevalence, pCMV infection should be considered a differential diagnosis in preterm if other conditions or etiology cannot justify clinical deterioration.

Investigation of the impact of dental fear on Child Oral Health Impact Profile scores

BACKGROUND: The Child Oral Health Impact Profile (COHIP) is a measure of oral health-related quality of life (OHRQoL) in children and adolescents. This study examined the impact of dental fear on the OHRQoL by comparing the COHIP scores of children with and without dental fear. METHODS: The OHRQoL in children and adolescents was measured using the Korean version of the COHIP. In total, 102 students (49 boys and 53 girls) filled in a questionnaire designed to evaluate dental fear and the OHRQoL in 2012 and 2014. RESULTS: In 2012, the group without dental fear showed higher COHIP scores than the group with dental fear; the difference between the two groups was statistically significant. In 2014, the same pattern was observed, but the difference was non-significant for all COHIP items other than those pertaining to social-emotional well-being. Comparison of COHIP scores according to changes in fear showed that the group with continuous dental fear showed significantly lower overall COHIP, negative COHIP, and low social-emotional wellbeing scores, than the group without continuous fear in 2012 and 2014. CONCLUSION: We expected children with dental fear to have poor oral health, affecting their OHRQoL; however, dental fear did not affect the OHRQoL.

A Case of Community-acquired Bacteremic Empyema Caused by Kocuria kristinae

Kocuria kristinae, part of the normal flora of the skin and oral mucosa, is seldom reported as a human pathogen; infection is mostly associated with immunocompromised patients in healthcare facilities. Here, we describe the first case of bacteremic empyema caused by K. kristinae acquired from the community. K. kristinae was isolated from pleural effusion and two sets of peripheral blood samples drawn from two different sites. The empyema resolved after the insertion of a chest tube and intravenous administration of piperacillin-tazobactam and levofloxacin.

A Case of Community-acquired Bacteremic Empyema Caused by Kocuria kristinae

Kocuria kristinae, part of the normal flora of the skin and oral mucosa, is seldom reported as a human pathogen; infection is mostly associated with immunocompromised patients in healthcare facilities. Here, we describe the first case of bacteremic empyema caused by K. kristinae acquired from the community. K. kristinae was isolated from pleural effusion and two sets of peripheral blood samples drawn from two different sites. The empyema resolved after the insertion of a chest tube and intravenous administration of piperacillin-tazobactam and levofloxacin.

Dehydroevodiamine·HCl enhances cognitive function in memory-impaired rat models

Progressive memory impairment such as that associated with depression, stroke, and Alzheimer's disease (AD) can interfere with daily life. In particular, AD, which is a progressive neurodegenerative disorder, prominently features a memory and learning impairment that is related to changes in acetylcholine and abnormal β-amyloid (Aβ) deposition in the brain. In the present study, we investigated the effects of dehydroevodiamine·HCl (DHED) on cognitive improvement and the related mechanism in memory-impaired rat models, namely, a scopolamine-induced amnesia model and a Aβ₁₋₄₂-infused model. The cognitive effects of DHED were measured using a water maze test and a passive avoidance test in the memory-impaired rat models. The results demonstrate that DHED (10 mg/kg, p.o.) and Donepezil (1 mg/kg, p.o.) ameliorated the spatial memory impairment in the scopolamine-induced amnestic rats. Moreover, DHED significantly improved learning and memory in the Aβ₁₋₄₂-infused rat model. Furthermore, the mechanism of these behavioral effects of DHED was investigated using a cell viability assay, reactive oxygen species (ROS) measurement, and intracellular calcium measurement in primary cortical neurons. DHED reduced neurotoxicity and the production of Aβ-induced ROS in primary cortical neurons. In addition, similar to the effect of MK801, DHED decreased intracellular calcium levels in primary cortical neurons. Our results suggest that DHED has strong protective effects against cognitive impairments through its antioxidant activity and inhibition of neurotoxicity and intracellular calcium. Thus, DHED may be an important therapeutic agent for memory-impaired symptoms.

Patients' Perceived Quality of Family Physicians' Primary Care with or without 'Family Medicine' in the Clinic Name / 가정의학회지

BACKGROUND: Patients' perspectives of family medicine according to the physician's identity and role as a primary-care specialist need to be investigated. This study was conducted to investigate the perceived quality of the primary care of family medicine clinics as assessed by patients in a community setting. METHODS: Patients (or their guardians) visiting nine community family medicine clinics were surveyed using the Korean Primary Care Assessment Tool from April 2014 to June 2014. The scores of the Korean Primary Care Assessment Tool domains were compared according to the clinics' designation (or not) as 'family medicine' and the patients' recognition (or not) of the physicians as board-certified family medicine specialists. RESULTS: A total of 196 subjects responded to the questionnaire. They assessed the community clinics' quality of primary care as moderate to high. Of the clinics, those that were not designated as family medicine scored higher than those that were designated as family medicine (P<0.05). The group of patients that recognized a clinic as that of a board-certified family medicine specialist awarded higher scores than the non-recognition group in the domains of coordination function and personalized care (P<0.05). CONCLUSION: The moderate to high scores for the community family medicine clinics' quality of primary care are encouraging. It seems that patients' recognition of the family physician's role and of the physician-patient relationship has a significant influence on their assessment of the quality of primary care.

Chlamydial Proctitis in a Young Man Who Has Sex with Men: Misdiagnosed as Inflammatory Bowel Disease / 전남의대학술지

We report the case of a 20-year-old man with a 2-month history of anal pain and bloody rectal discharge. He was referred to our clinic of gastroenterology for suspected inflammatory bowel disease (IBD). The colonoscopy showed mucosal nodularities on the rectum and an anal tag. Because the colonoscopic findings were not consistent with the typical manifestations of IBD, we took an additional sexual history and performed studies for infectious proctitis, including serologic tests for Chlamydia trachomatis, Neisseria gonorrhoeae, and Treponema pallidum. He had homosexual experience, and the serologic tests and PCR of a rectal swab were positive for C. trachomatis infection. Finally he was diagnosed as having chlamydial proctitis and was treated with intramuscular ceftriaxone 250 mg in a single dose and doxycycline 100 mg orally twice daily for 7 days. After 2 months, he had no lower abdominal symptoms and his endoscopic findings were improved.

Chlamydial Proctitis in a Young Man Who Has Sex with Men: Misdiagnosed as Inflammatory Bowel Disease / 전남의대학술지

We report the case of a 20-year-old man with a 2-month history of anal pain and bloody rectal discharge. He was referred to our clinic of gastroenterology for suspected inflammatory bowel disease (IBD). The colonoscopy showed mucosal nodularities on the rectum and an anal tag. Because the colonoscopic findings were not consistent with the typical manifestations of IBD, we took an additional sexual history and performed studies for infectious proctitis, including serologic tests for Chlamydia trachomatis, Neisseria gonorrhoeae, and Treponema pallidum. He had homosexual experience, and the serologic tests and PCR of a rectal swab were positive for C. trachomatis infection. Finally he was diagnosed as having chlamydial proctitis and was treated with intramuscular ceftriaxone 250 mg in a single dose and doxycycline 100 mg orally twice daily for 7 days. After 2 months, he had no lower abdominal symptoms and his endoscopic findings were improved.

Foeniculum vulgare Mill. Protects against Lipopolysaccharide-induced Acute Lung Injury in Mice through ERK-dependent NF-kB Activation

Foeniculum vulgare Mill. (fennel) is used to flavor food, in cosmetics, as an antioxidant, and to treat microbial, diabetic and common inflammation. No study to date, however, has assessed the anti-inflammatory effects of fennel in experimental models of inflammation. The aims of this study were to investigate the anti-inflammatory effects of fennel in model of lipopolysaccharide (LPS)-induced acute lung injury. Mice were randomly assigned to seven groups (n=7~10). In five groups, the mice were intraperitoneally injected with 1% Tween 80-saline (vehicle), fennel (125, 250, 500micro l/kg), or dexamethasone (1 mg/kg), followed 1 h later by intratracheal instillation of LPS (1.5 mg/kg). In two groups, the mice were intraperitoneally injected with vehicle or fennel (250microl/kg), followed 1 h later by intratracheal instillation of sterile saline. Mice were sacrificed 4 h later, and bronchoalveolar lavage fluid (BALF) and lung tissues were obtained. Fennel significantly and dose-dependently reduced LDH activity and immune cell numbers in LPS treated mice. In addition fennel effectively suppressed the LPS-induced increases in the production of the inflammatory cytokines interleukin-6 and tumor necrosis factor-alpha, with 500microl/kg fennel showing maximal reduction. Fennel also significantly and dose-dependently reduced the activity of the proinflammatory mediator matrix metalloproteinase 9 and the immune modulator nitric oxide (NO). Assessments of the involvement of the MAPK signaling pathway showed that fennel significantly decreased the LPS-induced phosphorylation of ERK. Fennel effectively blocked the inflammatory processes induced by LPS, by regulating pro-inflammatory cytokine production, transcription factors, and NO.

Prevalence and Trends of Dementia in Korea: A Systematic Review and Meta-Analysis

Through a systematic review and meta-analysis of epidemiological studies on dementia, we assessed the prevalence of dementia and its subtypes-Alzheimer' disease (AD) and vascular dementia (VaD)-in Korea. We searched for epidemiological studies on dementia published in 1990-2013 using PubMed, Scopus, EMBASE, KoreaMed, KISS, and RiCH. Dementia prevalence in elderly patients (aged> or =65 yr) was 9.2% (95% confidence interval [CI], 8.2%-10.4%) from 11 studies, which was higher than those from Western and other Asian countries. AD was the most prevalent dementia type, with a prevalence of 5.7% (95% CI, 5.0%-6.4%) from 10 studies compared with 2.1% (95% CI, 1.6%-2.7%) for VaD from 9 studies. The age-specific prevalence of dementia approximately doubled with each 5.8-yr increase of age. Although a significant increasing trend of dementia prevalence was not observed, it increased slightly from 7.3% to 8.7% after 2005; AD prevalence increased after 1995 and VaD prevalence decreased after the early 2000s. The AD/VaD ratio increased from 1.96 in the early 1990s to 4.13 in the 2010s, similar to the worldwide ratio. Owing to this high prevalence in the aging population, dementia will impose significant economic burdens to Korean society.

Late Complications and Stone Recurrence Rates after Bile Duct Stone Removal by Endoscopic Sphincterotomy and Large Balloon Dilation are Similar to Those after Endoscopic Sphincterotomy Alone

BACKGROUND/AIMS: Between endoscopic sphincterotomy (ES) alone and combined endoscopic sphincterotomy and large balloon dilation (ES-LBD) groups, efficacy and long-term complications, difference in biliary stone recurrence rate, and risk factors of stone recurrence were compared. METHODS: Medical records of 222 patients who underwent ERCP for biliary stone removal were retrospectively reviewed. Patients with dilated CBD > or =11 mm and follow-up longer than 6 months were included. RESULTS: There were 101 patients in ES-LBD group and 121 patients in ES group. Mean follow-up duration was 25.0 (6-48) months and 13.0 (6-43) months, respectively (p=0.001). There was no difference in number of ERCP sessions, brown pigment stones, angle between mid and distal common bile duct (CBD angle) <135degrees, and lithotripsy rate. Complete retrieval success rate was excellent in both groups (100% vs. 99%). Early complication rate of ES-LBD and ES alone group was 4 and 4.1%, respectively (p=1.000). One patient in ES-LBD group died from delayed bleeding. Late complication rate was 5.9 and 3.3%, respectively (p=1.000). Stone recurrence rate was 6.9% and 5.8%, respectively (p=0.984). The only Independent risk factor of stone recurrence was presence of periampullary diverticulum. CONCLUSIONS: Late complication and stone recurrence rates were similar between ES-LBD and ES alone groups.

Cognitive Abilities and Auditory Event Related Potentials in Patients with Schizophrenia

OBJECTIVES: Event-related potentials have been suggested as an objective marker for brain functions in psychiatric disorders. This study was aimed to investigate the relationships between P300, the mismatch negativity (MMN), the loudness dependence of the auditory evoked potential (LDAEP), demographic and clinical variables including neurocognitive abilities in patients with schizophrenia. METHODS: P300, the MMN, and the LDAEP were measured and the Korean Stroop color-word test (K-stroop test) and the Wisconsin Card Sorting Test (WCST) were performed in 43 patients with schizophrenia. The relationship of the latency and amplitude of P300 and the MMN as well as regression slope of the LDAEP with demographic and clinical variables were analyzed by t-test and correlation analyses for categorical and continuous variables, respectively. RESULTS: After controlling for age, the latency of central (Cz) and parietal (Pz) P300 posivitively correlated with GAF at admission (Cz ; gamma = 0.385, p = 0.047, Pz ; gamma = 0.421, p = 0.029). The amplitude of parietal P300 correlated with the correction rate of the K-stroop test (gamma = 0.575, p = 0.002). In addition, the frontal (Fz) P300 latency tended to negatively correlated with the correction rate of the WCST (gamma = -0.371, p = 0.057). CONCLUSIONS: Our findings suggest that the values of P300 latency and amplitude might be correlated with GAF at admission and working memory measured by the K-Stroop test and the WCST. Meanwhile, the MMN and the LDAEP did not correlate with demographic and clinical variables. These results support the results of previous studies showing associations with P300 and impaired cognitive ability.

Renal artery thrombosis secondary to sepsis-induced disseminated intravascular coagulation in acute pyelonephritis

There are some reports of renal vein thrombosis associated with acute pyelonephritis, but a case of renal artery thrombosis in acute pyelonephritis has not been reported yet. Here we report a case of renal artery thrombosis which developed in a patient with acute pyelonephritis complicated with sepsis-induced disseminated intravascular coagulation (DIC). A 65-year-old woman with diabetes was diagnosed with acute pyelonephritis complicated with sepsis. Escherichia coli was isolated from both blood and urine cultures. When treated with antibiotics, her condition gradually improved. She suddenly complained of severe right flank pain without fever in the recovery phase. A computed tomography scan revealed right renal artery thrombosis with concomitant renal infarction. Prophylactic anticoagulation therapy was not suggested because of sustained thrombocytopenia and increased risk of bleeding. Flank pain resolved with conservative treatment and perfusion of infarcted kidney improved at the time of discharge. To our knowledge, this is the first case of renal artery thrombosis related to acute pyelonephritis with sepsis-induced DIC.

A Case of Hemolytic Uremic Syndrome in a Lung Cancer Patient Treated with Gemcitabine / 결핵및호흡기질환

Hemolytic uremic syndrome (HUS) is a rare disorder characterized by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. HUS arises from a wide spectrum of conditions, and chemotherapeutic agents have been reported to be associated with HUS, including Mitomycin, Cisplatin, Bleomycin, and Gemcitabine. A 76-year-old man treated with Gemcitabine due to non-small cell lung cancer developed clinical and laboratory findings compatible with HUS. Gemcitabine was ceased and hemodialysis and plasma exchange were utilized and he recovered. A high level of suspicion for HUS is necessary when cancer patients are treated with Gemcitabine, and prompt recognition and treatment are also essential.

Three Cases of Cough Syncope in Lung Cancer Patients / 결핵및호흡기질환

Cough syncope is characterized by the loss of consciousness occurring after vigorous coughings. There are approximately 90 reported cases of cough syncope within the medical literature. Most cases involving middle aged, overweight and chronic bronchitic male smokers. Although many studies have been published in the medical literature, the mechanism and pathophysiology for cough syncope has not been well established. Cough syncope is treated by correcting the underlying cause when identified, or by avoiding conditions that may cause the cough syncope. In addition, cough suppression modalities can also be used. We herein report 3 cases of cough syncope presenting in lung cancer patients.

A Case of Adipsic Hypernatremia Associated with Anomalous Corpus Callosum in Adult with Mental Retardation

Adipsic hypernatremia cause chronic hyperosmolality and hypernatremia through a combination of impaired thirst and osmotically stimulated antidiuretic hormone secretion. This syndrome can be grouped together as disorders of osmoreceptor dysfunction due to the various degrees of osmoreceptor destruction related with different types of intracranial lesions around the anterior hypothalamus, consistent with the location of primary osmoreceptor cells. Adipsic hypernatremia, associated with developmental disorder of corpus callosum, is very rare. Most cases are diagnosed at infancy and early childhood; the replacement of desmopressin is necessary. Herein, we report adipsic hypernatremia associated with anomalous corpus callosum in adult with mental retardation; they were treated with only free water without desmopressin.

A Case of Drug-Induced Hepatitis due to Bortezomib in Multiple Myeloma

We report on a case of severe hepatotoxicity in a 52-year-old male with multiple myeloma (MM) who had received bortezomib therapy. At patient presentation, liver enzymes were normal, but started to markedly increase 3 days after the patient's second dose of bortezomib was administered, when free kappa light chains were noticeably reduced in the serum. After discontinuation of bortezomib, liver enzymes recovered gradually to baseline. Then, the patient was started on a thalidomide-containing regimen, which he was able to tolerate well. The patient achieved complete remission prior to autologous stem cell transplantation (ASCT). The patient underwent ASCT without occurrence of further liver toxicity.

A Case of Huge Pedunculated Hepatocellular Carcinoma Mimicking a Gastrointestinal Stromal Tumor / 대한내과학회지

Pedunculated hepatocellular carcinoma (P-HCC) can be defined as a carcinoma protruding from the liver with or without a pedicle. Cases of P-HCC showing extrahepatic growth are very rare. P-HCC constitutes 0.2-4.2% of all HCC cases in Japan and Taiwan, but few cases in Korea have been reported. A 67-year-old female patient was admitted to our hospital with a 6-month history of epigastric discomfort. Examination identified an abdominal mass in the left upper quadrant, and abdominal computed tomography revealed a huge mass adjacent to the fundus of the stomach. We diagnosed this mass as a gastrointestinal stromal tumor because of its size and site. However, postoperative histopathological findings showed that the mass was HCC. Here, we report this case and review the relevant medical literature.