Trichothiodystrophy is a rare autosomal recessive disorder and it is caused by reduced levels of high-sulfur amino acids and most particularly cystine in hair shafts. The patients with trichothiodystrophy show a broad range of clinical phenotypes from only hair involvement to multisystem abnormalities. A 7-year-old girl visited the clinic with a complaint of short, sparse and slow-growing hair, which had been presented since birth. The patient's hair showed characteristic dark and light banding, which gave a "tiger tail" appearance under light microscopy, and polarization and cuticular degeneration were seen under the scanning microscopy. Evaluation of the mineral density in the patient's hair shaft showed a low level of sulfur. We herein report on a case of trichothiodystrophy with sulfur-deficiency in the hair shafts.
Amino Acids ; Child ; Cystine ; Hair ; Humans ; Light ; Microscopy ; Parturition ; Phenotype ; Sulfur ; Trichothiodystrophy Syndromes

Scedosporium apiospermum is a rising opportunistic fungus that may infect immunocompetent individuals and may cause often fatal disease among the increasing immunosuppressed patient population. This pathogen is typically difficult to treat because of its particular resistance to commonly used antimycotic drugs. We describe an 83-year-old male patient with a history of long-term corticosteroid treatment for chronic prurigo simplex, who developed multiple suppurative nodules on a erythematous plaque at the right forearm. Histological examinations revealed granulomatous infiltration with hyphae and spores in dermis and fungal cultured isolation for definitive diagnosis showed S. apiospermum. Treatment was started with oral fluconazole, but skin lesions were getting worse. Then patient was treated with 200 mg of intravenouse itraconazole daily. Skin lesions showed a marked improvement after 1 week, and completely healing after 3 weeks.
Aged, 80 and over ; Dermis ; Fluconazole ; Forearm ; Fungi ; Humans ; Hyphae ; Itraconazole ; Male ; Methylmethacrylates ; Polystyrenes ; Prurigo ; Scedosporium ; Skin ; Spores

BACKGROUND AND OBJECTIVES: Many studies have reported no benefit of sound localization, but improved speech understanding in noise after treating patients with single-sided deafness (SSD). Furthermore, their performances provided a large individual difference. The present study aimed to measure the ability of speech perception and gap detection in noise for the SSD patients to better understand their hearing nature.
Deafness ; Hearing ; Hearing Loss ; Hearing Loss, Conductive ; Humans ; Individuality ; Noise ; Plastics ; Sample Size ; Signal-To-Noise Ratio ; Silver Sulfadiazine ; Sound Localization ; Speech Perception ; Young Adult

IgG4-related disease (IgG4-RD) is a new disease entity characterized by elevated serum IgG4 and infiltration of IgG4+ plasma cells in tissue. IgG4-RD can involve various organs, and skin could also be affected. The manifestations of IgG4-related skin disease (IgG4-RSD) are not characteristic, however it usually presents with multiple erythematous nodules or plaques with itching sensation. We report two cases of IgG4-RSD. Histological studies of these cases revealed infiltration of numerous plasma cells and mononuclear cells in the entire dermis. Some plasma cells were strongly positive for IgG4 stain. IgG4-RSD is a treatable disease with systemic corticosteroids. Thus, clinicians should obtain a biopsy and identify IgG4-positive cells for an accurate diagnosis.
Adrenal Cortex Hormones ; Biopsy ; Dermis ; Diagnosis ; Immunoglobulin G ; Plasma Cells ; Pruritus ; Sensation ; Skin Diseases* ; Skin*

The present study aimed to compare thresholds of directbone-conduction (BC direct) with those of behaviorally measured BC pure-tone audiometry(PTA) and objectively measured BC auditory brainstem response (ABR) to confirm the clinicalfeasibility of their relationships. Subjects and Methods: Young adults with normal hearingparticipated in the study to determine the thresholds from three measurements at four testingfrequencies. In the BC direct, the vibrator of a bone-anchored hearing aid softband wasplaced on the right mastoid of each subject. In both PTA and ABR, a B71 bone oscillatorwas placed on the subject’s right mastoid. While the subject’s thresholds of BC direct andBC PTA were determined with a clinically routine 5-dB step procedure, BC ABR was conductedto determine the individual’s hearing sensitivity by a peak V of the waveform usingtone-burst and click stimuli. Results: The BC direct showed a different pattern between lowand high frequencies. Precisely, its thresholds were 13.25 and 12.25 dB HL at 0.5 and 1kHz, respectively, but 19 and 19.75 dB HL at 2 and 4 kHz, respectively. A significant positivecorrelation existed between BC direct and PTA at 1 kHz, which was also correlated withABR. Conclusions: Based on the current data, the thresholds of BC direct were similar toBC PTA at low frequencies and BC ABR at high frequencies. The thresholds of BC directmight be predictable at approximately 5 dB higher (or lower) than that in PTA, although alarge data set is required for standardization. J Audiol Otol 2020;24(2):85-90

T-lymphoblastic leukemia/lymphoma is an aggressive condition with frequent involvement of the mediastinum, occurring most frequently in older children, adolescents, and young adults. The involvement of extranodal sites is less common, and abdominal dissemination is unusual, but when present it primarily involves the liver and spleen. However, primary lymphoma of the adrenal glands is rare. The majority of reported cases presented with a B-cell immunophenotype. Herein, we report the case of a patient with T-lymphoblastic leukemia/lymphoma who presented predominantly with bilateral adrenal masses without lymphadenopathy, and whose clinical course deteriorated rapidly.
Adolescent ; Adrenal Glands ; B-Lymphocytes ; Child ; Humans ; Liver ; Lymphatic Diseases ; Lymphoma ; Mediastinum ; Spleen ; T-Lymphocytes ; Young Adult

OBJECTIVE: The aim of this study was to investigate the interpersonal violence (IPV) epidemiology and mortality according to the violence victim-perpetrator relationships. METHODS: A retrospective cross-sectional study was done using the comprehensive data of the emergency department (ED)-based Jeju Injury Surveillance System from all EDs in Jeju Island. The demographic characteristics of the victims, the types of perpetrators (spouse, family members, acquaintance, and stranger), injury characteristics and clinical outcomes from the injury were collected. The IPV epidemiology was reported by descriptive statistics. Multivariate Poisson regression was used to analyze the association between the mortality and violence victim-perpetrator relationships. RESULTS: Among the 23,508 violent injury patients enrolled from January 1, 2008, and December 31 of 2016, 19,879 (84.6%) were analyzed; 16 (0.08%) died at the ED. The types of perpetrators were the spouse (10.1%), family members (3.9%), acquaintances (43.4%), and strangers (42.7%). The mortality of the violence victims was increased significantly by the spouse (incidence rate ratio [IRR], 6.336; P=0.043) or family members (IRR, 11.089; P=0.016) compared to strangers. On the other hand, there was no difference between the acquaintances and strangers. CONCLUSION: The epidemiology and mortality of IPV were associated with the violence victim-perpetrator relationships. Therefore, it is necessary to develop and apply prevention programs considering these differences, particularly for intimidate/ family violence because of its high fatality.
Cross-Sectional Studies ; Domestic Violence ; Emergency Service, Hospital ; Epidemiology ; Friends ; Hand ; Humans ; Interpersonal Relations ; Mortality ; Retrospective Studies ; Spouses ; Violence

Arachnoid web is a very rare disease that occurs when the normal flow of cerebrospinal fluid is disturbed due to abnormal formation of the arachnoid membrane in the arachnoid space. Consequently, symptoms appear in the form of various myelopathies, such as loss of strength and sensation in the upper and lower extremities, or bladder control disorders. In general, surgical treatment can be considered if symptoms are exhibited. Arachnoid web requires a high consideration of appropriate diagnosis and treatment methods. However, due to its extremely rare occurrence in actual clinical practice, it is difficult to differentiate from other diseases such as herniated intervertebral disc or subdural tumor causing spinal myelopathy. This would effectively lead to a completely different direction of treatment. To date, there have been no case reports of Arachnoid web in Korea, except for collecting and reporting the focal anterior displacement of the thoracic spine, which is a similar lesion in the spinal cord. This article therefore provides information through case reports and literature review.

Objective: This study aimed to determine whether there is a difference in mortality and medical resource utilization between geriatric (aged ≥65 years) and super-geriatric patients (aged ≥80 years) with traumatic brain injury (TBI). Methods: We obtained comprehensive data (demographics, injury characteristics, injury severities, and outcomes) of geriatric and super-geriatric TBI patients from an emergency department-based injury surveillance system database from 2011 to 2016. Multivariate logistic regression analysis was performed to compare the mortality and nonroutine discharge (NRDC) status between both groups. Results: Among 442,533 TBI patients, 48,624 were older than 65 years. A total of 48,446 patients (37,140 geriatric and 11,306 super-geriatric) without exclusion criteria were included in the final analysis. Both overall in-hospital mortality (adjusted odds ratio, 1.88; 95% confidence interval [CI], 1.28 to 2.74; P=0.001) and NRDC (adjusted odds ratio, 1.35; 95% CI, 1.07 to 1.71; P=0.011) were significantly higher in the super-geriatric group. In the stratified analysis, there were no significant differences in NRDC rate for all stratifications of treatment timing (emergency department vs. ward admission), but mortality remained to be significant for all stratifications. Conclusion Super-geriatric TBI patients showed a significantly higher risk-adjusted overall mortality and more inadequate medical resource utilization than did geriatric TBI patients. However, super-geriatric patients were more likely to undergo NRDC after admission; thus, further research about age-related health inequalities is needed in the treatment of super-geriatric patients.

Objective: This study aimed to determine whether there is a difference in mortality and medical resource utilization between geriatric (aged ≥65 years) and super-geriatric patients (aged ≥80 years) with traumatic brain injury (TBI). Methods: We obtained comprehensive data (demographics, injury characteristics, injury severities, and outcomes) of geriatric and super-geriatric TBI patients from an emergency department-based injury surveillance system database from 2011 to 2016. Multivariate logistic regression analysis was performed to compare the mortality and nonroutine discharge (NRDC) status between both groups. Results: Among 442,533 TBI patients, 48,624 were older than 65 years. A total of 48,446 patients (37,140 geriatric and 11,306 super-geriatric) without exclusion criteria were included in the final analysis. Both overall in-hospital mortality (adjusted odds ratio, 1.88; 95% confidence interval [CI], 1.28 to 2.74; P=0.001) and NRDC (adjusted odds ratio, 1.35; 95% CI, 1.07 to 1.71; P=0.011) were significantly higher in the super-geriatric group. In the stratified analysis, there were no significant differences in NRDC rate for all stratifications of treatment timing (emergency department vs. ward admission), but mortality remained to be significant for all stratifications. Conclusion Super-geriatric TBI patients showed a significantly higher risk-adjusted overall mortality and more inadequate medical resource utilization than did geriatric TBI patients. However, super-geriatric patients were more likely to undergo NRDC after admission; thus, further research about age-related health inequalities is needed in the treatment of super-geriatric patients.