ABSTRACT
The phosphorylated 43-kDa transactive response DNA-binding protein (TDP-43) was identified as a major disease protein in sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration. We present a case with progressive muscle weakness who was diagnosed with sporadic ALS. On postmortem examination, TDP-43 immunoreactive neuronal cytoplasmic inclusions were noted in motor cortex, hippocampus and anterior horns of spinal cord, which was compatible with ALS-TDP, stage 4. This is the first documented autopsy-confirmed ALS case with ALS-TDP pathology in Korea.
ABSTRACT
Background@#Multiple system atrophy (MSA) is a sporadic neurodegenerative disease characterized by various combinations of parkinsonism, cerebellar ataxia, autonomic dysfunction and pyramidal signs. Two clinical subtypes are recognized: MSA with predominant cerebellar ataxia (MSA-C) and MSA with predominant parkinsonism (MSA-P). The aim of this study was to compare pathological features between MSA-C and MSA-P. @*Methods@#Two autopsy confirmed cases with MSA were included from the Pusan National University Hospital Brain Bank. Case 1 had been clinically diagnosed as MSA-C and case 2 as MSA-P. The severity of neuronal loss and gliosis as well as the glial and neuronal cytoplasmic inclusions were semiquantitatively assessed in both striatonigral and olivopontocerebellar regions. Based on the grading system, pathological phenotypes of MSA were classified as striatonigral degeneration (SND) predominant (SND type), olivopontocerebellar degeneration (OPC) predominant (OPC type), or equivalent SND and OPC pathology (SND=OPC type). @*Results@#Both cases showed widespread and abundant α-synuclein positive glial cytoplasmic inclusions in association with neurodegenerative changes in striatonigral or olivopontocerebellar structures, leading to the primary pathological diagnosis of MSA. Primary age-related tauopathy was incidentally found but Lewy bodies were not in both cases. The pathological phenotypes of MSA were MSA-OPC type in case 1 and MSA-SND=OPC type in case 2. @*Conclusions@#Our data suggest that clinical phenotypes of MSA reflect the pathological characteristics.
ABSTRACT
A 62-year-old man presented with a one-year history of word finding difficulty, impaired single word comprehension and personality changes including aggression, apathy and eating change. Brain MRIs showed severe atrophy in the left anterior temporal lobe. The clinical syndromic diagnosis was semantic variant primary progressive aphasia. He died at age 70 of pneumonia. At autopsy, transactive response DNA-binding protein (TDP) immunoreactive long dystrophic neurites were predominantly found in the cerebral cortices, which were compatible with frontotemporal lobar degeneration-TDP type C pathology.
Subject(s)
Humans , Middle Aged , Aggression , Apathy , Aphasia, Primary Progressive , Atrophy , Autopsy , Brain , Cerebral Cortex , Comprehension , Diagnosis , Eating , Frontotemporal Dementia , Frontotemporal Lobar Degeneration , Magnetic Resonance Imaging , Neurites , Pathology , Pneumonia , Semantics , TDP-43 Proteinopathies , Temporal LobeABSTRACT
Sudden unexplained nocturnal death syndrome (SUNDS) occurs predominantly in Southeast Asian people including Koreans. SUNDS is problematic for forensic pathologists because the diagnosis depends on the "exclusion of diagnosis." Moreover, the pathogenesis of SUNDS is still unclear although some cases are known to be intimately related to the Brugada syndrome. Connexin 43 (Cx43) is a principal protein of gap junction in adult cardiac myocytes, being distributed to the intercalated discs and phosphorylated in normal condition. Ischemia and hypoxia alter the expression of total Cx43 (tCx43) resulting in redistribution of non-phosphorylated Cx43 (npCx43) to the sarcoplasm or lateral cell borders of cardiac myocytes by continuing dephosphorylation. This study aimed to compare the immunoexpression pattern of Cx43 in the cardiac myocytes of SUNDS and ischemic heart disease (IHD). The study group was 26 cases of SUNDS and the control group of 24 cases of IHD with severe coronary atherosclerosis, showing no myocardial ischemic change. There was a significantly different expression of both tCx43 and npCX43 between the SUNDS and IHD group. A greater reduction in both tCx43 and npCx43 and a more delayed redistribution pattern was seen in the myocardium of SUNDS when compared with IHD. In conclusion, these results suggest that the reduced Cx43 expression in SUNDS may be inherent and indicate a risk of arrhythmia.
Subject(s)
Adult , Humans , Hypoxia , Arrhythmias, Cardiac , Asian People , Brugada Syndrome , Connexin 43 , Coronary Artery Disease , Diagnosis , Gap Junctions , Immunohistochemistry , Ischemia , Myocardial Ischemia , Myocardium , Myocytes, CardiacABSTRACT
No abstract available.
Subject(s)
Carcinoma, Basal Cell , Hamartoma , Nevus , Nevus, Sebaceous of JadassohnABSTRACT
A 63-year-old man presented with a 1.5-year history of progressive personality changes. Clinical evaluations revealed severe frontal dysfunction and bilateral frontal atrophy/glucose hypometabolism. He was diagnosed as probable behavioral variant frontotemporal dementia. He continued to decline, and died at the age of 66. At autopsy, numerous tau-positive gilial threads and coiled bodies were observed in the white matter. Tau-positive astrocytic plaques and neuronal cytoplasmic inclusions were also seen in cerebral cortices, which were compatible with corticobasal degeneration.
Subject(s)
Humans , Middle Aged , Autopsy , Cerebral Cortex , Coiled Bodies , Frontotemporal Dementia , Inclusion Bodies , Neurons , PathologyABSTRACT
A 63-year-old man presented with a 1.5-year history of progressive personality changes. Clinical evaluations revealed severe frontal dysfunction and bilateral frontal atrophy/glucose hypometabolism. He was diagnosed as probable behavioral variant frontotemporal dementia. He continued to decline, and died at the age of 66. At autopsy, numerous tau-positive gilial threads and coiled bodies were observed in the white matter. Tau-positive astrocytic plaques and neuronal cytoplasmic inclusions were also seen in cerebral cortices, which were compatible with corticobasal degeneration.
Subject(s)
Humans , Middle Aged , Autopsy , Cerebral Cortex , Coiled Bodies , Frontotemporal Dementia , Inclusion Bodies , Neurons , PathologyABSTRACT
Approximately 15% of patients with frontotemporal dementia (FTD) have co-occurring motor neuron disease (MND). FTD-MND cases have frontotemporal lobar degeneration (FTLD)-transactive response DNA-binding protein (TDP) pathology, which is divided into four subtypes (types A, B, C, and D) based on the morphological appearance, cellular location, and distribution of the abnormal TDP inclusions and dystrophic neurites. We report a patient with FTD-MND whose pathological diagnosis was FTLD-TDP type B. This is the first documented autopsy-confirmed case of FTD-MND in Korea.
Subject(s)
Humans , Autopsy , Diagnosis , Frontotemporal Dementia , Frontotemporal Lobar Degeneration , Korea , Motor Neuron Disease , Motor Neurons , Neurites , PathologyABSTRACT
Approximately 15% of patients with frontotemporal dementia (FTD) have co-occurring motor neuron disease (MND). FTD-MND cases have frontotemporal lobar degeneration (FTLD)-transactive response DNA-binding protein (TDP) pathology, which is divided into four subtypes (types A, B, C, and D) based on the morphological appearance, cellular location, and distribution of the abnormal TDP inclusions and dystrophic neurites. We report a patient with FTD-MND whose pathological diagnosis was FTLD-TDP type B. This is the first documented autopsy-confirmed case of FTD-MND in Korea.
Subject(s)
Humans , Autopsy , Diagnosis , Frontotemporal Dementia , Frontotemporal Lobar Degeneration , Korea , Motor Neuron Disease , Motor Neurons , Neurites , PathologyABSTRACT
The postmortem diagnosis of ischemic heart disease is sometimes difficult for forensic pathologists especially when microscopic ischemic change in the myocardium is not detected at the early stages of ischemic injury by conventional staining techniques. Connexin 43 (Cx43) is a gap junction protein in human myocardium, which is phosphorylated and localized to the intercalated discs in the normal cardiac muscles. However, during ischemia and hypoxia, total Cx43 (tCx43) undergoes progressive dephosphorylation and concomitant accumulation of non-phosphorylated Cx43 (npCx43) at the lateral cell borders. This study was aimed to evaluate the efficacy of the immunohistochemical expression of Cx43 in the myocardium as an early ischemic marker in forensic autopsy. The study group consisted of 24 cases listing patients who died of ischemic heart disease (IHD) with severe coronary atherosclerosis that showed no myocardial pathology. Cases of sudden death of individuals from non-IHD (n=16) were used as controls. The survival times in both IHD and non-IHD groups were within 24 hours of the onset of angina symptoms, related injury, or the event for the cause of death. There was a statistically significant difference in tCx43 and npCX43 immunopositivity in the IHD group due to their expression patterns. In the IHD group, the redistribution of Cx43 expression from the intercalated discs to the lateral cell borders occurred more frequently than in the non-IHD group. In conclusion, the different expression patterns of tCx43 and npCx43 in the myocardium in IHD could be used as adjunctive ischemic markers.
Subject(s)
Humans , Hypoxia , Autopsy , Cause of Death , Connexin 43 , Connexins , Coronary Artery Disease , Death, Sudden , Diagnosis , Forensic Pathology , Immunohistochemistry , Ischemia , Myocardial Ischemia , Myocardium , PathologyABSTRACT
Poikiloderma vasculare atrophicans (PVA) is a rare poikilodermatous variant of early-stage mycosis fungoides characterized by generalized poikiloderma, atrophy, mottled dyspigmentation, and telangiectasia. In 2001, a 14-year-old male presented with asymptomatic brownish-gray polymorphic macules throughout the body with flexural accentuation. A skin biopsy showed increased melanophages with focal hydropic changes. Ashy dermatosis was considered a possible diagnosis. In 2005, the lesions began to show darkening and lichenification in the lower part of the trunk. In 2011, his skin showed definite poikilodermatous changes, and a biopsy showed band-like inflammatory infiltrations of atypical lymphocytes, epidermal atrophy, and epidermotropism of predominantly CD4-CD8+ atypical T cells. In addition, results of T-cell receptor gene rearrangement analysis were positive. Based on the aforementioned findings, he was diagnosed with PVA. If a patient shows long-standing and progressive hyperpigmentary skin changes, periodic follow-up and repeated skin biopsies are recommended to determine the underlying condition.
Subject(s)
Adolescent , Humans , Male , Atrophy , Biopsy , CD4-CD8 Ratio , Diagnosis , Follow-Up Studies , Genes, T-Cell Receptor , Lymphocytes , Mycosis Fungoides , Skin , Skin Diseases , T-Lymphocytes , TelangiectasisABSTRACT
Squamous cell carcinoma (SCC) of the maxillary sinus is the most common malignant neoplasm of the paranasal cavity. The most frequent initial symptoms are swelling of the cheek, nasal obstruction, epistaxis, and nasal discharge. Herein, we report the case of a 62-year-old Korean male who initially presented with a whitish irregular depressed plaque with an indurated border in his left cheek. After a several-week delay in diagnosis, he was eventually diagnosed with maxillary sinus carcinoma.
Subject(s)
Humans , Male , Middle Aged , Carcinoma, Basal Cell , Carcinoma, Squamous Cell , Cheek , Diagnosis , Epistaxis , Maxillary Sinus , Nasal ObstructionABSTRACT
BACKGROUND: Obesity and its complicatians are increasing as social ecanamic standard of living is improving and life style has been changing in Korea. There is growing evidence that the visceral/subcutaneous adipose tissue area ratio (VSR) on computed tomography (CI) is closely related to the obesity camplications. Therefore, it is important to determine whether the VSR reduction is praduced during weight loss. The purpose of this study was to observe and campare the amount of reduction of intraabdaminal fat between low calorie diet (LCD) alane and LCD with exercise. METHODS: Sixty obese females were randomly prescribed a LCD alone or a LCD with exercise. Thirty obese females were treated with a LCD of 1,000kcal/d for 8 weeks (group A). Another thirty obese females were treated with a LCD of 1,000kcal/d combined with supervised aerobic exercise for 8 weeks (group B). Weight, height, BMI, and body fat distribution were measured in all subjects immediately before and after 8 weeks of this study. The body fat distribution was assessed by CT, by which the total abdaminal adipose tissue area (AT), subcutaneous abdominal adipose tissue (SAT), intra-abdominal adipose tissue (VAT), and visceral/subcutaneous adipose tissue area ratio (VSR) were measured at the level of the umbilicus. A venous blood sample was taken after an overnight fast to determine lipid, glucose, and insulin concentrations in all subjects before and after 8 weeks of this study. RESULTS: Body weight, BMI, CI' measurement of total (AT), visceral (VAT), and subcutaneous (SAT) fat were found to be decreased significantly in the two groups. The VSR of the group A did not change after weight loss. In contrast, the VSR of the group B decreased significantly (P<0.05) during weight loss. Fasting plasma glucose and total cholesterol levels significantly decreased in the both groups (P<0.001). Fasting plasma insulin and triglyceride levels significantly decreased in the group B, but not in group A. CONCLUSIONS: This study shows that the VSR decreased significantly in group B, but not in group A. Fasting plasma insulin and triglyceride levels decreased significantly in group B, but not in group A. These results suggest that the LCD with exercise is more effective in reducing expected complications of obesity than LCD alone.
Subject(s)
Female , Humans , Abdominal Fat , Adipose Tissue , Blood Glucose , Body Fat Distribution , Body Weight , Caloric Restriction , Cholesterol , Exercise , Exercise Therapy , Fasting , Glucose , Insulin , Intra-Abdominal Fat , Korea , Life Style , Obesity , Plasma , Socioeconomic Factors , Triglycerides , Umbilicus , Weight LossABSTRACT
We analyzed the records of 124 eyes of 124 perforating ocular injury patients retrospectively from June 1 1994 to examine the relationship between final visual acuity and preoperative factors such as age, sex, initial visual acuity, location of injury, length of injury, mechanism of injury, intraocular foreign body, traumatic catarcact, secondary operation, hyphema, vitreous hemorrhage. The preoperative factors that influence final visual were age, initial visual acuity, length of infury, vitreous hemorrahage, secondary operation. However, other factors such as gender, mechanism, location of injury, intraocular foreign body, traubatic cataract, and hyphema did not influence final visual acuity. Final visual acuity was better in the case of young patients, good initial visual acuity were age, initial visual acuity, length of injury, vitreous hemorrhage, secondary operation, However, other factors such as gender, mechanism, location of injury, intraocular foreign body, traumatic cataract, and hyphema did not influence final visual acuity. Final visual acuity was better in the case of young patients, good initial visual acuity, short wound length, absence of vitreous hemorrhage and secondary operation.
Subject(s)
Humans , Cataract , Foreign Bodies , Hyphema , Retrospective Studies , Visual Acuity , Vitreous Hemorrhage , Wounds and InjuriesABSTRACT
Anterior transposition of inferior oblique muscle(ATIO) is known to an effective procedure for correcting marked overaction of inferior oblique muscle. However, depression in abduction and elevation deficiency in primary and abduction positions have occurred without adherence syndrome after this procedure. To avoid these complications, the author modiffied ATIO by transposing only the anterior portion of inferior oblique muscle at 2mm anterior to the temporal insertion site of inferior rectus, and placing the posterior portion of muscle just posterior to the insertion site of inferior rectus. Modified ATIO was performed in 4 cases of inferior oblique overaction(IOOA) with dissociated vertical deviation(DVD), 2 cases of unilateral IOOA withcontralateral superior oblique overaction(SOOA) and 5 cases of superior oblique palsy(SOP) Knapp class IV. They were observed for over 6 months (6~18 months). Three of 4 cases of IOOA with DVD were improved but adherence syndrome occurred in one case and depression in abduction occurred in another case. In 2 cases of unilateral IOOA with contralateral SOOA, hypertropia was decreased from 20delta and 2delta respectively, after the procedure. In 5 cases of SOP Knapp class IV, preoperative hypertropia was 20delta-40delta in primary position. After modified ATIO, hypertropia was 0delta-20delta . The correction effect was 12delta-35delta , with an average of 18.4delta in primary position. In 4 of 5 cases, hypertropia was corrected within 10delta in primary position. Modified ATIO is an effective procedure for unilateral IOOA with contralateral SOOA and SOP Knapp class IV as a single muscle surgery.