Craniosysostosis syndrome is caused by premature fusion of bones of skull and face during fetal development. It is related to Fibroblast growth factor receptor gene and most common craniosynostosis syndromes are Apert, Pfeiffer and Crouzon. Apert syndrome is one of the severe type of craniosynostosis syndromes which shows mutations in the Fibroblast growth factor receptor 2 (FGFR2) gene. Pfeiffer syndrome is also related with FGFR 1 or 2 gene mutation. We experienced two patients with craniosynostosis syndromes, Apert syndrome and Pfeiffer syndrome. The first baby was a in-born female baby presented with syndactly of the hands and feet and facial dysmorphism including shallow orbit with deep crease above eye brow. Apert syndrome was confirmed by the presence of a mutation in FGFR2. The second patient visited our developmental delay clinic due to developmental delay at seven month old age. He showed facial dysmorphism including cloverleaf-shaped skull, micrognathia, low set ears, low nasal bridge and high-arched palate, but there were no syndactly or limb anomalies. He was suspected of Pfeiffer syndrome, however his FGFR2 gene study was normal. These patients need multidisciplinary team management and regular follow up for visual, auditory, and cognitive development functions Pediatricians have important role on recognizing the patients with facial dysmorphism, planning to evaluate accompanying anomalies and making appropriate decisions about the timing of surgical management to minimize growth and cognitive impairments.
Acrocephalosyndactylia ; Craniosynostoses ; Ear ; Extremities ; Female ; Fetal Development ; Follow-Up Studies ; Foot ; Hand ; Humans ; Orbit ; Palate ; Receptor, Fibroblast Growth Factor, Type 2 ; Receptors, Fibroblast Growth Factor ; Skull

Although Corynebacterium amycolatum can cause opportunistic infections, it is commonly considered as contaminant. In this report, we present a case of bacteremia caused by C. amycolatum with a novel mutation in the gyrA gene that confers high-level quinolone resistance to the organism.
Aged, 80 and over ; Anti-Bacterial Agents/*pharmacology ; Bacteremia/*microbiology ; Corynebacterium/drug effects/*genetics/isolation & purification ; Corynebacterium Infections/*diagnosis/drug therapy ; DNA Gyrase/*genetics ; Drug Resistance, Bacterial/genetics ; Fluoroquinolones/*pharmacology ; Humans ; Male ; Microbial Sensitivity Tests ; Mutation ; Vancomycin/therapeutic use

In this study, nutrient intake status and energy expenditure were examined to investigate the nutritional status of the elderly in a rural community. The results obtained by questionaries, the 24 hour recall method, and time-diary were as follows: The elderly men surveyed were 73.8 years old, on the average. The elderly women surveyed were 73.5 years old, on the average. The proportion of the elderly with diseases was 51.9%. Most of the subjects (86.1%) had a regular meal pattern of consuming three meals a day. The average daily energy intake of the rural elderly was much lower than the Korean RDA. The dietary assessment data showed that each energy intake of the males and the females was 79.5% and 84.3% of the RDA, respectively. The dietary intake of Ca, Fe, niacin, thiamin, and riboflavin was lower than the Korean RDA, and that of P and Vitamin C was adequate. The Fe intake was significantly different with respect to age and sex (p < 0.05). Although, in both elderly men and elderly women it decreased with age, the elderly men's intake was lower than the elderly women's. The heights of the elderly men and the elderly women was 159.7 cm and 147.5 cm, respectively, and the weights were 60.0 kg and 52.2 kg, respectively, and the BMI was in the moderate range. Heights significantly decreased with age (p < 0.05). According to daily living schedules, leisure time (11.0 hour) was the longest, physiological time (9.6 hours) was next, and work time (3.4 hours) was the shortest. Energy expenditure significantly decreased with age (p < 0.01). Energy intake also decreased with aging. Energy balance (energy expenditure/ energy intake) was 93.4% in elderly men and 104.0% in elderly women. Especially, in elderly men in the 65 to 74 age range, the energy balance was the lowest, and the nutrient intake was also much lower than that of elderly women.
Aged* ; Aging ; Appointments and Schedules ; Ascorbic Acid ; Energy Intake ; Energy Metabolism* ; Female ; Humans ; Leisure Activities ; Male ; Meals ; Niacin ; Nutritional Status* ; Riboflavin ; Rural Population* ; Weights and Measures

A 54-yr-old male, who was treated by chemotherapy for gastric cancer 15 months ago, presented to Yongdong Severance Hospital, Seoul, with complaints of pain in his right eye caused by a foreign body from the ground in the previous week. He had been treated with topical and oral antibacterial in addition to antifungal agents, but did not show significant clinical improvement. After a positive corneal culture with mold, topical amphotericin B was added to the initial regimen. The mold was identified as Scedosporium apiospermum by macroscopic and microscopic morphologies and the nucleotide sequences of a fungal PCR product showing 99% homology with those of S. apiospermum (EF151349). He recovered with good results at 25 days after corneal epithelial debridement. The early diagnosis of S. apiospermum keratitis is very important for proper treatment. It is recommended that molecular diagnostic methods such as fungal PCR and sequencing be done with conventional cultures whenever a fungal infection is suspected.
Amphotericin B/therapeutic use ; Anti-Bacterial Agents/therapeutic use ; Antifungal Agents/therapeutic use ; Cornea/microbiology ; Drug Therapy, Combination ; Eye Infections, Fungal/*diagnosis/microbiology ; Humans ; Keratitis/*diagnosis/microbiology ; Male ; Middle Aged ; Polymerase Chain Reaction ; Scedosporium/genetics/growth & development/*isolation & purification ; Sequence Analysis, DNA

CD19 chimeric antigen receptor T-cell (CAR-T) therapy, a genetically engineered cell therapy, showed unprecedented efficacy in the treatment of relapsed or refractory diffuse large B-cell lymphoma. Two agents, axicabtagene ciloleucel and tisagenlecleucel, were approved by the Food and Drug Administration in 2017. However, CAR-T therapy is a treatment with complex logistics and high costs, as well as inherent adverse events, including cytokine-release syndrome and neurotoxicity. In addition, predictive biomarkers for efficacy and toxicity are lacking. Industry-academy cooperation is urgently required to develop CAR-T therapy that is effective, safe, and affordable for patients in Korea.
B-Lymphocytes ; Biomarkers ; Cell- and Tissue-Based Therapy ; Humans ; Korea ; Lymphoma, B-Cell ; Lymphoma, Large B-Cell, Diffuse ; Organization and Administration ; Receptors, Antigen ; T-Lymphocytes ; United States Food and Drug Administration

CD19 chimeric antigen receptor T-cell (CAR-T) therapy, a genetically engineered cell therapy, showed unprecedented efficacy in the treatment of relapsed or refractory diffuse large B-cell lymphoma. Two agents, axicabtagene ciloleucel and tisagenlecleucel, were approved by the Food and Drug Administration in 2017. However, CAR-T therapy is a treatment with complex logistics and high costs, as well as inherent adverse events, including cytokine-release syndrome and neurotoxicity. In addition, predictive biomarkers for efficacy and toxicity are lacking. Industry-academy cooperation is urgently required to develop CAR-T therapy that is effective, safe, and affordable for patients in Korea.

Nocardia species are aerobic, gram-positive pathogens found worldwide in soil. Nocardia is considered an opportunistic pathogen, and its infection mostly occurs in immunocompromised patients. We report a case of Nocardia farcinica induced mediastinitis and pneumonia that occurred in a 64-year-old male patient who had no significant medical history except for hypertension. He visited another hospital with a complaint of dyspnea and left chest wall pain. The symptoms arose 7 days ago without any trauma and they worsened. A mediastinal mass was found on computed tomography scan. After being transferred to our hospital for further evaluation, he was diagnosed with mediastinitis and pneumonia. As N. farcinica was found to be the causative organism by 16S rRNA sequencing, proper antibiotic therapy including trimethoprim/sulfamethoxazole was initiated immediately. After this, the patient improved and he was discharged. If an infection has a disseminating course, nocardiosis cannot be excluded even in immunocompetent patients. Once the diagnosis is established, prompt antibiotic therapy should be performed based on the severity.
Diagnosis ; Dyspnea ; Humans ; Hypertension ; Immunocompromised Host ; Male ; Mediastinitis* ; Middle Aged ; Nocardia Infections ; Nocardia* ; Pneumonia* ; Soil ; Thoracic Wall

PURPOSE: Pathological diagnosis involves very delicate and complex consequent processing that is conducted by a pathologist. The recognition of false patterns might be an important cause of misdiagnosis in the field of surgical pathology. In this study, we evaluated the influence of visual and cognitive bias in surgical pathologic diagnosis, focusing on the influence of “mental rotation.” MATERIALS AND METHODS: We designed three sets of the same images of uterine cervix biopsied specimens (original, left to right mirror images, and 180-degree rotated images), and recruited 32 pathologists to diagnose the 3 set items individually. RESULTS: First, the items found to be adequate for analysis by classical test theory, Generalizability theory, and item response theory. The results showed statistically no differences in difficulty, discrimination indices, and response duration time between the image sets. CONCLUSION: Mental rotation did not influence the pathologists' diagnosis in practice. Interestingly, outliers were more frequent in rotated image sets, suggesting that the mental rotation process may influence the pathological diagnoses of a few individual pathologists.
Bias (Epidemiology) ; Cervix Uteri ; Diagnosis* ; Diagnostic Errors ; Discrimination (Psychology) ; Female ; Pathology ; Pathology, Surgical

BACKGROUND: The purpose of this study was to evaluate the incidence of contrast-induced nephropathy (CIN), and the effect of intravenous albumin for prophylaxis of CIN in patients with liver cirrhosis (LC) and chronic kidney disease (CKD). METHODS: We conducted a retrospective study of 81 subjects with LC and CKD (estimated glomerular filtration rate (eGFR)<60mL/min/1.73m2) who underwent contrast-enhanced computed tomography (CT). Patients received either isotonic sodium bicarbonate solution (3mL/kg for 1h before CT and 1mL/kg/h for 6h after CT) or albumin (20% albumin, 25mL for 1h before CT and 75mL for 6h after CT). CIN was defined as an increase of > or =25% or > or =0.5mg/dL in serum creatinine level. RESULTS: Overall, CIN developed in three patients (3.7%). Of the 81 subjects, 43 received sodium bicarbonate solution and 38 received albumin. Both groups were comparable with regard to age, sex, diabetes mellitus, and baseline eGFR. The albumin group showed a significantly poorer liver function profile. CIN incidence did not differ significantly between the groups: it occurred in one (2.3%) of the 43 subjects receiving sodium bicarbonate and two (5.3%) of the 38 subjects receiving albumin (P=0.6). However, the albumin group showed a significantly smaller increase in body weight (P=0.03). CONCLUSION: The incidence of CIN in patients with LC and CKD undergoing contrast-enhanced CT after preventive measures was relatively low. The incidence of CIN was not significantly different between sodium bicarbonate and albumin groups.
Body Weight ; Creatinine ; Diabetes Mellitus ; Glomerular Filtration Rate ; Humans ; Incidence ; Liver ; Liver Cirrhosis ; Renal Insufficiency, Chronic ; Retrospective Studies ; Sodium Bicarbonate