Objectives: . FDXR encodes mitochondrial ferredoxin reductase, which is associated with auditory neuropathy spectrum disorder (ANSD) and optic atrophy. To date, only two studies have described FDXR-related hearing loss. The auditory rehabilitation outcomes of this disease entity have not been investigated, and the pathophysiological mechanisms remain incompletely understood. Here we report a hearing-impaired individual with co-segregation of the FDXR variant and post-synaptic type ANSD, who underwent cochlear implantation (CI) with favorable outcomes. We suggest a possible pathophysiological mechanism of adult-onset ANSD involving mitochondrial dysfunction. Methods: . A 35-year-old woman was ascertained to have ANSD. Exome sequencing identified the genetic cause of hearing loss, and a functional study measuring mitochondrial activity was performed to provide molecular evidence of pathophysiology. Expression of FDXR in the mouse cochlea was evaluated by immunohistochemistry. Intraoperatively, electrically evoked compound action potential (ECAP) responses were measured, and the mapping parameters were adjusted accordingly. Audiological outcomes were monitored for over 1 year. Results: . In lymphoblastoid cell lines (LCLs) carrying a novel FDXR variant, decreased ATP levels, reduced mitochondrial membrane potential, and increased reactive oxygen species levels were observed compared to control LCLs. These dysfunctions were restored by administering mitochondria isolated from umbilical cord mesenchymal stem cells, confirming the pathogenic potential of this variant via mitochondrial dysfunction. Partial ECAP responses during CI and FDXR expression in the mouse cochlea indicate that FDXR-related ANSD is post-synaptic. As a result of increasing the pulse width during mapping, the patient’s CI outcomes showed significant improvement over 1-year post-CI. Conclusion . A novel FDXR variant associated with mitochondrial dysfunction and post-synaptic ANSD was first identified in a Korean individual. Additionally, 1-year post-CI outcomes were reported for the first time in the literature. Excellent audiologic results were obtained, and our results reiterate the correlation between genotype and CI outcomes in ANSD.

Background: To determine the effects of Jerusalem Artichoke extract (JAE) and inulin on blood glucose levels and insulin secretion in streptozotocin (STZ)-induced diabetic mice.
Methods: Thirty four mice were divided into a normal control group and three experimental groups: diabetic control, JAE, and inulin. STZ (50 mg/kg) was injected intraperitoneally to induce diabetes in the three experimental groups. The JAE and inulin groups were fed 10 g/kg JAE or fed 1 g/kg inulin, respectively, for 6 weeks. Fasting glucose was checked weekly. After 6 weeks, the oral glucose tolerance test (OGTT) was performed, and the insulin level was checked.
Results: Four mice from the JAE group (n = 9) died and autopsies revealed inflammation and ulceration of skin lesions on the chest areas. Fasting glucose levels were not decreased in the inulin or JAE group relative to diabetic control group. In the OGTT at 60 minutes and 120 minutes, the serum glucose levels were significantly higher in the inulin group (572.6 ± 52.0 mg/dL and 555.8 ± 72.9 mg/dL, respectively) than in diabetic control group (484.3 ± 81.6 mg/dL and 467.3 ± 111.1 mg/dL, respectively). Insulin levels were not increased in the inulin group relative to the diabetic control group.
Conclusion These results indicate that JAE and inulin might not be useful therapeutic strategies for diabetes mellitus and indiscreet intake of Jerusalem Artichoke could exacerbate to diabetes.

STUDY DESIGN: Retrospective study. OBJECTIVES: To compare serum vitamin D levels in elderly patients with or without osteoporotic spinal compression fractures (OSCFs) and to identify relationships between the serum vitamin D level and other variables, such as age, bone mineral density (BMD), and bone turnover markers (osteocalcin and C-telopeptide). SUMMARY OF LITERATURE REVIEW: Vitamin D plays a key role in calcium metabolism in the bone tissue. Vitamin D deficiency can lead to decreased BMD and an increased risk of falls and of osteoporotic fractures. MATERIALS AND METHODS: We retrospectively reviewed the medical records of 95 elderly patients (≥60 years) with OSCFs (fracture group) and 118 subjects who had been diagnosed with osteoporosis without OSCFs (control group). Serum vitamin D levels were contrasted between the two groups taking into account other factors such as patient age, sex, and seasonal variations. For all the patients, we also evaluated the correlation between the vitamin D level and the patient age, BMD, and bone turnover markers. RESULTS: The mean of the serum 25(OH) vitamin D3 levels was significantly lower in the fracture group than in the control group. There were significant differences in the 25(OH) vitamin D3 levels in autumn. In all patients, the mean serum 25(OH) vitamin D3 levels were the highest in autumn and the lowest in spring. Furthermore, the mean serum 25(OH) vitamin D3 levels were significantly correlated with patient age and BMD. CONCLUSIONS: A low serum vitamin D level might be a risk factor of OSCFs in elderly patients.
Aged ; Bone and Bones ; Bone Density ; Calcitriol ; Calcium ; Case-Control Studies* ; Cholecalciferol ; Fractures, Compression ; Humans ; Medical Records ; Metabolism ; Osteoporosis ; Osteoporotic Fractures ; Retrospective Studies ; Risk Factors ; Seasons ; Spinal Fractures ; Spine* ; Vitamin D Deficiency ; Vitamin D* ; Vitamins*

Congenital self-healing reticulohistiocytosis (CSHRH) is a rare, cutaneous, self-limited form of Langerhans cell histiocytosis. Whereas multiple lesions are common, a solitary lesion is rare. A 14-day-old neonate presented with a solitary, 5-mm, oval, reddish, and eroded papule with crust on the left thigh that had existed since birth. No systemic involvement was found. Histopathology revealed dense infiltration of large histiocytes with scattered eosinophils and lymphocytes in the dermis. Immunohistochemistry showed S-100 and CD1a positivity. Two months later, the skin lesion involuted spontaneously, without evidence of recurrence and extracutaneous involvement. On the basis of the characteristic clinical course and typical histopathological findings, a diagnosis of solitary CSHRH was made.
Cytochrome P-450 CYP1A1 ; Dermis ; Diagnosis ; Eosinophils ; Histiocytes ; Histiocytosis ; Histiocytosis, Langerhans-Cell ; Humans ; Immunohistochemistry ; Infant, Newborn* ; Lymphocytes ; Parturition ; Recurrence ; Skin ; Thigh

Angiosarcoma is a highly malignant vascular tumor of endothelial origin. Initially, a cutaneous manifestation presents as a singular or multifocal bruise-like patches on the skin, most frequently on the face, the scalp or the neck regions. On progression, the lesions become violaceous, and ill-defined spongy nodular tumors appear. Our patient was a 71-year-old man with a previous history of angiosarcoma on the right forehead and was treated with an excision and local radiation 3 years ago. Several months after the treatment, a dark brownish to violaceous patch with edema arose from the right upper eyelid and spread out to the lower eyelid. Clinically, an ecchymosis caused by trauma or other hemangioma was suspected more than a recurrent angiosarcoma. Histopathologic examinations including immunohistochemical studies were consistent with cutaneous angiosarcoma. Herein, we report a rare case of a recurrent isolated angiosarcoma without the recurrence of a primary lesion.
Aged ; Ecchymosis ; Edema ; Eyelids* ; Forehead* ; Hemangioma ; Hemangiosarcoma* ; Humans ; Neck ; Recurrence* ; Scalp ; Skin

OBJECTIVE: The purpose of this study was to assess the time-response of clip compression model for the relationship between the duration of the injury on the rat thoracic spinal cord, and histological and functional outcome measures. METHODS: After laminectomy at T9 in Sprague-Dawley rats, a modified aneurysm clip with a closing force of 30-gram was applied extradurally around the spinal cord at T9, and then rapidly released with cord compression persisting for 1, 5, and 10 minutes, respectively. The locomotor function, according to the Basso-Beattie-Bresnahan (BBB) scale, was assessed weekly for 4 weeks after the injury. The injured spinal cord was then examined histologically including quantification of cavitation. RESULTS: Spinal cord injury by clip compression resulted in worsened BBB scale scores. However, there was spontaneous functional improvement in times for all 3 injury severities, with the greatest improvement in the 1-minute compression group. From 1 week after the injury, BBB scores in the 1-minute group were significantly higher than in the 5 or 10-minutes groups until the end of the follow-up period (p<0.05). For histological analysis, the cavitation area and cavity volume at 4 weeks was directly proportional to the severity of the injury. CONCLUSION: The results of this study show that the rat thoracic cord clip compression model is a reliable and reproducible spinal cord injury model. The duration of clip compression injury in the rat thoracic cord has been correlated with both functional and histologic outcome measures.
Aneurysm ; Animals ; Follow-Up Studies ; Laminectomy ; Outcome Assessment (Health Care) ; Rats ; Rats, Sprague-Dawley ; Spinal Cord ; Spinal Cord Injuries

BACKGROUND/AIMS: Increased left atrial (LA) size has been proposed as a predictor of poor cardiovascular outcome in the elderly. In the present study, we evaluated the relationship between LA size and stroke in subjects of all ages who presented with preserved left ventricular systolic function (LVSF) and sinus rhythm (SR), and investigated the relationships between LA size and other echocardiographic parameters of diastolic function. METHODS: A total of 472 subjects were enrolled in the study (161 men, 311 women) and divided into the stroke group (n=75) and control group (n=397). A conventional echocardiographic study was then performed. Subjects with valvular heart disease, atrial fibrillation, or coronary heart disease were excluded. RESULTS: The mean subject age was 65.2+/-5.1 years in the stroke group and 65.6+/-5.9 years in the control group. Mitral inflow pattern and E & A velocity showed no significant relationship with stroke (p=NS, p=NS, respectively). Left ventricular mass index and LA dimension were significantly related to stroke (p=0.003, p=0.023, respectively), and hypertension showed a marginal relationship with stroke (p=0.050). Age was not related to stroke in the present study (p=NS). CONCLUSIONS: The LA dimension is significantly related to the incidence of stroke. Therefore, strategies for prevention of stroke in patients with preserved LVSF and SR should be considered in cases of LA enlargement.
Adult ; Aged ; Echocardiography, Doppler, Pulsed ; Female ; Heart Atria/*ultrasonography ; Heart Rate/*physiology ; Heart Ventricles/physiopathology/ultrasonography ; Humans ; Incidence ; Korea/epidemiology ; Male ; Middle Aged ; Myocardial Contraction/*physiology ; Retrospective Studies ; Risk Factors ; Stroke/*epidemiology/etiology ; Stroke Volume/*physiology ; Systole ; Ventricular Function, Left/*physiology

BACKGROUND AND OBJECTIVES: The newly developed 2-dimensional ultrasound speckle tracking imaging (2D-STI) has enabled researchers to assess the changes of left ventricular (LV) rotation and torsion. The aims of the present study are to establish normal values and to examine the effect of advancing age on left ventricular torsion. SUBJECTS AND METHODS: We enrolled 182 healthy persons in this study. After examined the standard clinical echocardiographic parameters, we obtained the degree of the LV rotation at the basal and apical levels of the short axis view with using a customized software program EchoPAC, GE. RESULTS: Among the 182 healthy subjects, 109 healthy subjects were finally included (49 males and 60 females) due to the failure of obtaining reliable rotational patterns (feasibility: 59.8%). The basal and apical peak LV rotations during systole were 8.14+/-3.55 degrees and 8.48+/-3.70 degrees, respectively. The basal peak LV rotation and peak LV torsion had a tendency to increase with aging (r=0.277, p=0.004 and r=0.253, p=0.008, respectively). All the values of the basal LV rotation during systole tended to increase with aging. The apical LV rotation had no relationship with aging throughout the entire cardiac cycle. CONCLUSION: 2D-STI was a feasible methodology to measure the LV rotation. The peak LV torsion during systole shows statistically significant augmentation with advancing age, and this is mainly due to the increased basal LV rotation.
Age Factors ; Aging ; Axis, Cervical Vertebra ; Echocardiography, Doppler ; Heart Ventricles ; Humans ; Male ; Reference Values ; Systole ; Track and Field

BACKGROUND/AIMS: Pericardial effusion (PE), which is more than a moderate amount, is usually accompanied with various underlying illnesses. However, there have been few reports on the long-term follow-up results of these cases, and even in the studies where the etiologies were well presented. METHODS: 64 consecutive patients (mean age: 66.3 years, 23 males) with more than a moderate amount of PE, as confirmed by echocardiography, were analyzed for pericardial fluid and this was diagnosed according to ESC Executive Summary. The mean follow-up duration was 1.95+/-1.78 years and the final survival was assessed in November, 2006. RESULTS: The etiologies were composed of malignancy-related PE (MRPE: 29.7%), tuberculosis pericarditis (40.6%), idiopathic pericarditis (18.8%), hypothyroidism (7.8%), and miscellaneous (3.1%). Mortality occurred in 21 cases (32.8%), of which 15 cases were attributed to MRPE. In all patients, the mean survival duration was 372+/-247.9 days after diagnosis, and the mean survival duration was 253+/-221.5 days after pericardiocentesis. Cardiac tamponade, constrictive pericarditis and recurrent pericarditis were presented in 15 cases (23.4%), 9 cases (14.1%) and 2 cases (3.1%) respectively. The chemistry findings of PE were of no use to differentiate the etiologies. CONCLUSION: Pericardial effusion of more than a moderate amount often manifested urgent symptoms such as cardiac tamponade and intractable dyspnea, and these conditions require therapeutic pericardiocentesis more frequently than diagnostic tests. The prognosis is usually subordinate to the progression of the underlying illness, and especially in case of MRPE. The occurrence of constrictive pericarditis should be monitored carefully.
Cardiac Tamponade ; Diagnostic Tests, Routine ; Dyspnea ; Echocardiography ; Follow-Up Studies ; Humans ; Hypothyroidism ; Pericardial Effusion ; Pericardiocentesis ; Pericarditis ; Pericarditis, Constrictive ; Prognosis ; Tuberculosis

BACKGROUND AND OBJECTIVES: The QT interval (QTi) and QT dispersion (QTd), which represent the myocardial electrical heterogeneity of repolarization, were studied to recognize the differences between normal controls (n=32) and stable angina patients (n=78). SUBJECTS AND METHODS: During the treadmill exercise test, standard 12 lead Electrocardiogram (ECG) was obtained at every stage, with the QTi and QTd measured. The corrected QT interval (cQTi) and QT dispersion (cQTd) were calculated using Bazett's formula, with the Delta QT interval (DeltaQTi) measured on leads V5 and aVF. RESULTS: During exercise, the QTi had a reverse relationship with the heart rate in both groups, but was decreased by a lesser extent in the patient group. The QTd also had a tendency to decrease according to increasing heart rate in both groups and was significantly greater in the patient group. The corrected QTi increased during exercise in both groups, and reached maximum during the pre-peak stage, but was minimized during a 1 minute recovery stage in the patient group. The corrected QTd reached a maximum during the peak exercise stage in both groups, but the values between the two groups were significantly different. Both the QTi and cQTi had tendencies to increase according to the number of vessels with stenosis. The DeltaQTi tended to reflect a regional ischemia in a single vessel disease. CONCLUSION: The QTi, QTd, cQTi and cQTd were increased in the stable angina patients compared with the normal controls, and augmented during the exercise test.
Angina, Stable* ; Constriction, Pathologic ; Electrocardiography* ; Exercise Test ; Heart Rate ; Humans ; Ischemia ; Population Characteristics