Cleidocranial dysostosis is a rare congenital developmental disorder in which membranous bones fail to ossify sufficiently, particularily in the calvarium and the clavicles where fibrous tissue replaces the bone. Authors report two cases of cleidocranial dysostosis occurred in a 44-year-old woman and her 19-year-old son.
Adult ; Clavicle ; Cleidocranial Dysplasia ; Female ; Humans ; Mothers ; Skull ; Young Adult

BACKGROUND: Pulmonary thromboembolism is relatively frequent and potentially fatal. However, it is commonly misdiagnosed. The incidence of pulmonary thromboembolism is not decreasing despite advances in diagnosis and effective prophylatic measures. Its potential for significant sequela necessitates a prompt diagnosis and treatment. Unfortunately, there are many difficulties and problems regarding accurate diagnosis. There is a low prevalence of deep vein thrombosis and pulmonary thromboembolism in Korea and only few reports on this subject are available. METHOD: The clinical features of 36 patients, who were diagnosed with pulmonary thromboembolism at the Korea University medical center, were reviewed. RESULTS: 1) There was no significant difference in prevalence between men an women, and the mean age was 50.9 years in men 59.2 years in women. 2) The frequent causes of pulmonary thromboembolism were malignancies (22.2%), surgery (22.2%), and heart disease(8.2%). Specific causes were not identified in 33.3%. 3) The most common symptom was dyspnea(72.2%), and the most common sign was tachypnea(61.1%). 4) The EKG findings were normal in 28.6%, and S1Q3T3 pulmonale pattern in 25.7%, ST or QRS changes in others. 5) The chest X-ray findings indicated pulmonary infiltation in 37.5%, cardiomegaly in 15.6%, pleural effusion in 12.5%, and normal in 27.8%. The perfusion lung scan showed a high probability in 66.7%, and intermediate or low probability in 33.3%. 6) The pulmonary arterial pressure(PAP) in the high probability groups was 57.9mmHg with a higher mortality rate(35%). CONCLUSION: Pulmonary thromboembolism is not uncommon in Korea and its clinical features do not differ greatly from those reported in the literature. When pulmonary thromboemblism of unknown causes are diagnosed, a search for an occult malignancy is recommended. Rapid diagnosis and treatment are achieved when thromboemblism is suspected.
Academic Medical Centers ; Cardiomegaly ; Diagnosis ; Electrocardiography ; Female ; Heart ; Humans ; Incidence ; Korea ; Lung ; Male ; Mortality ; Perfusion ; Pleural Effusion ; Prevalence ; Pulmonary Embolism* ; Thorax ; Tomography, Spiral Computed ; Venous Thrombosis

BACKGROUND: The dominant innervation of airway smooth muscle is parasympathetic fibers which are carried in the vagus nerve. Activation of these cholinergic nerves releases acetylcholine which binds to M3 muscarinic receptors on the smooth muscle causing bronchocontraction. Acetylcholine also feeds back onto neuronal M2 muscarinic receptors located on the postganglionic cholinergic nerves. Stimulation of these receptors further inhibits acetylcholine release, so these M2 muscarinic receptors act as autoreceptors. Loss of function of these M2 receptors, as it occres in animal models of hyperresponsiveness, leads to an increase in vagally mediated hyperresponsiveness. However, there are limited data pertaining to whether there are dysfunctions of these receptors in patients with asthma. The aim of this study is to determine whether there are dysfunction of M2 muscarinic receptors in asthmatic patients and difference of function of these receptors according to severity of asthma. METHODS: We studied twenty-seven patients with asthma who were registered at Pulmonology Division of Korea University Hospital. They all met asthma criteria of ATS. Of these patients, eleven patients were categorized as having mild asthma, eight patients moderate asthma and eight patients severe asthma according to severity by NAEPP Expert Panel Report 2(1997). All subjects were free of recent upper respiratory tract infection within 2 weeks and showed positive methacholine challenge test(PC 20<16mg/ml). Methacholine provocation tests performed twice on separate days allowing for an interval of one week. In the second test, pre-treatment with the M2 muscarinic receptor agonist pilocarpine(180µg) through inhalation was performed before the routine procedures. RESULTS: Eleven subjects with mild asthma and eight aubjects with moderate asthma showed significant increase of PC20 from 5.30±5.23mg/ml(mean±SD) to 20.82±22.56mg/ml(p=0.004) and from 2.79±1.5mg/ml to 4.67±3.53mg/ml(p=0.012) after pilocarpine inhalation, respectively. However, in the eight subjects with severe asthma significant increase of PC20 from 1.76±1.50mg/ml to 3.18±4.03mg/ml(p=0.161) after pilocarpine inhalation was not found. CONCLUSION: In subjects with mild and moderate asthma, function of M2 muscarinic receptors was normal, but there was a dysfunction of these receptors in subjects with severe asthma. These results suggest that function of M2 muscarinic receptors is different according to severity of asthma.
Acetylcholine ; Asthma ; Autoreceptors ; Humans ; Inhalation ; Korea ; Methacholine Chloride ; Models, Animal ; Muscle, Smooth ; Neurons* ; Pilocarpine ; Pulmonary Medicine ; Receptors, Muscarinic* ; Respiratory Tract Infections ; Vagus Nerve

The surgical treatment of diseases of thoracic aorta has had much better success rate in recent years compaired to the past. Aortic aneurysms or dissections that extend along the entire thoracic aorta are usually approached in two or three stages. Recently we successfully performed one-stage aortic replacement from the aortic root to the abdominal aorta in chronic DeBakey type I dissection. A 25 year-old man who had dyspnea on exertion (NYHA Fc II) and a Marfanoid feature was operated under the diagnosis of chronic type I dissection with severe aortic regurgitation. At operation, a huge ascending aorta with two intimal tearings was seen and the blood supply of intercostal arteries and right renal artery was done from the false lumen. Modified Bentall operation with total aortic replacement was done successfully, and the patient is being followed-up without major complications.
Adult ; Aorta* ; Aorta, Abdominal ; Aorta, Thoracic ; Aortic Aneurysm ; Aortic Valve Insufficiency ; Arteries ; Diagnosis ; Dyspnea ; Humans ; Renal Artery

We studied the anti-diabetic effects of medicinal herb water extracts on expression of hepatic glucokinase (GCK), pyruvate dehydrogenase (PDH), and acetyl-CoA carboxylase (ACC) mRNA. The medicinal herbs used for experiments were Cornus officinalis (CO), Paeonia suffruticosa Andrews (PSA), Discorea japonica Thunb. (DJ), Rehmannia glutinosa (RG), Lycium chinense (LC), and Pyrus pyrifolia (PP). For GCK mRNA expression, CO, RG, and LC water extracts exhibited a more effective activity than other extracts. Cells treated with RG and LC water extracts showed an increase in expression of PDH mRNA to 191% and 124%, respectively, compared to control. Expression of ACC mRNA was significantly higher in LC water extract. These data indicate that CO, RG, and LC water extracts stimulates expression of hepatic GCK, PDH, and ACC mRNA.
Acetyl Coenzyme A ; Acetyl-CoA Carboxylase ; Cornus ; Glucokinase ; Lycium ; Oxidoreductases ; Paeonia ; Plants, Medicinal ; Pyrus ; Pyruvic Acid ; Rehmannia ; RNA, Messenger ; Water

Mucosa-associated lymphoid tissue (MALT) lymphoma predominantly involves the gastrointestinal tract, with the stomach being the most commonly affected site. Colonic involvement is quite rare. Hence, the etiology, clinical characteristics, treatment, and outcome of colonic MALT lymphoma are not well established. This paper reports a case of MALT lymphoma of the transverse colon, presenting as a subepithelial tumor in a 50-year-old woman. The patient received 3,060 cGy in 17 fractions with external beam radiation therapy for three weeks. At 2 months after radiation therapy, a colonoscopy examination revealed complete resolution and a scar change of the lesion. The follow-up at 24 months revealed no evidence of tumor recurrence after radiation therapy.

Mucosa-associated lymphoid tissue (MALT) lymphoma predominantly involves the gastrointestinal tract, with the stomach being the most commonly affected site. Colonic involvement is quite rare. Hence, the etiology, clinical characteristics, treatment, and outcome of colonic MALT lymphoma are not well established. This paper reports a case of MALT lymphoma of the transverse colon, presenting as a subepithelial tumor in a 50-year-old woman. The patient received 3,060 cGy in 17 fractions with external beam radiation therapy for three weeks. At 2 months after radiation therapy, a colonoscopy examination revealed complete resolution and a scar change of the lesion. The follow-up at 24 months revealed no evidence of tumor recurrence after radiation therapy.

BACKGROUND AND OBJECTIVES: Deviation of the nasal septum toward one side is often associated with an outgrowth of the inferior turbinate, which occupies the expansive space of the contralateral nasal cavity. It is assumed that this contrabalanced mechanism characterized by compensatory hypertrophy has originated to protect the more patent nasal side from excessive airflow with its drying and crusting effect. We tried to investigate histologic differences of inferior turbinate mucosa of both sides in patients with nasal septal deviation. MATERIALS AND METHOD: Specimens were taken from the anterior portion of inferior turbinates of 15 patients with deviated nasal septum and compensatory hypertrophy of the inferior turbinate. After staining by hematoxylin-eosin, the histologic differences of bilateral turbinate mucosa were examined under light microscope. RESULTS: Epithelia of both sides showed normal or epithelial exfoliation. The number of submucosal glands was significantly higher in the opposite side than in the hypertrophied side. Inflammatory cell infiltration was more severe in the hypertrophied side than in the opposite side. CONCLUSION: Above results suggest that heavy infiltration of inflammatory cells and decreased number of glands in the hypertrophied side might result from aerodynamic change originated from difference of area of airway.
Humans ; Hypertrophy* ; Mucous Membrane ; Nasal Cavity ; Nasal Septum* ; Turbinates*

Low molecular weight GTP-binding proteins are molecular switches that are believed to play pivotal roles in cell growth, differentiation, cytoskeletal organization, and vesicular trafficking. Rab proteins are key players in the regulation of vesicular transport, while Rho family members control actin-dependent cell functions, i.e. the regulation of cytoskeletal organization in response to extracelluar growth factors and in dendritic neuron development. In this study, we have examined the regulation of small GTP-binding proteins that are implicated in neurosecretion and differentiation of neuron during ageing processes. Comparison of small GTP-binding proteins from the synaptosome and crude synaptic vesicles (LP2 membranes) of 2 months and 20 months old rat brain respectively showed no difference in the level of Rab family proteins (Rab3A and Rab5A). However, Rho family proteins such as RhoA and Cdc42 were elevated in LP2 membranes of the aged brain. The dissociation of Rab3A by Ca2+/calmodulin (CaM) from SV membranes was not changed during aging. Ca2+/CaM stimulated phosphorylation of the 22 and 55-kDa proteins in SV membranes from the aged rat brain, and inhibited phosporylation of 30-kDa proteins. GTPgammaS inhibited phosphorylation of the 100-kDa proteins and stimulated phosphorylation of the 70 kDa in LP2 membranes from both the young and aged rat brains, whereas GDPbetaS caused just the opposite reaction. These results suggest that protein phosphorylation and regulation of Rho family GTPases in rat brain appears to be altered during ageing processes.
*Aging ; Animal ; Brain/metabolism ; Calcium/pharmacology ; Cattle ; Comparative Study ; GTP-Binding Proteins/*metabolism ; Guanosine 5'-O-(3-Thiotriphosphate)/metabolism ; Molecular Weight ; Phosphorylation/drug effects ; Rats ; Rats, Sprague-Dawley ; Synaptic Membranes/*metabolism ; Synaptosomes/*metabolism ; cdc42 GTP-Binding Protein/biosynthesis/metabolism ; rab3A GTP-Binding Protein/metabolism ; rab5 GTP-Binding Proteins/metabolism ; rhoA GTP-Binding Protein/biosynthesis/metabolism

Low molecular weight GTP-binding proteins are molecular switches that are believed to play pivotal roles in cell growth, differentiation, cytoskeletal organization, and vesicular trafficking. Rab proteins are key players in the regulation of vesicular transport, while Rho family members control actin-dependent cell functions, i.e. the regulation of cytoskeletal organization in response to extracelluar growth factors and in dendritic neuron development. In this study, we have examined the regulation of small GTP-binding proteins that are implicated in neurosecretion and differentiation of neuron during ageing processes. Comparison of small GTP-binding proteins from the synaptosome and crude synaptic vesicles (LP2 membranes) of 2 months and 20 months old rat brain respectively showed no difference in the level of Rab family proteins (Rab3A and Rab5A). However, Rho family proteins such as RhoA and Cdc42 were elevated in LP2 membranes of the aged brain. The dissociation of Rab3A by Ca2+/calmodulin (CaM) from SV membranes was not changed during aging. Ca2+/CaM stimulated phosphorylation of the 22 and 55-kDa proteins in SV membranes from the aged rat brain, and inhibited phosporylation of 30-kDa proteins. GTPgammaS inhibited phosphorylation of the 100-kDa proteins and stimulated phosphorylation of the 70 kDa in LP2 membranes from both the young and aged rat brains, whereas GDPbetaS caused just the opposite reaction. These results suggest that protein phosphorylation and regulation of Rho family GTPases in rat brain appears to be altered during ageing processes.
*Aging ; Animal ; Brain/metabolism ; Calcium/pharmacology ; Cattle ; Comparative Study ; GTP-Binding Proteins/*metabolism ; Guanosine 5'-O-(3-Thiotriphosphate)/metabolism ; Molecular Weight ; Phosphorylation/drug effects ; Rats ; Rats, Sprague-Dawley ; Synaptic Membranes/*metabolism ; Synaptosomes/*metabolism ; cdc42 GTP-Binding Protein/biosynthesis/metabolism ; rab3A GTP-Binding Protein/metabolism ; rab5 GTP-Binding Proteins/metabolism ; rhoA GTP-Binding Protein/biosynthesis/metabolism