Alagille syndrome (AGS) is a rare autosomal dominant inherited disorder, with major clinical manifestations of bile duct paucity, cholestasis, cardiovascular anomaly, ophthalmic abnormalities, butterfly vertebrae, and dysmorphic facial appearance. It is caused by heterozygous mutations in JAG1 or NOTCH of the Notch signaling pathway presenting with variable phenotypic penetrance and involving multiple organ systems. The following case report describes a unique case of a 16-year-old female with AGS who presented with the primary complaint of renovascular hypertension. She had a medical history of ventricular septal defect and polycystic ovary syndrome. The patient had a dysmorphic facial appearance including frontal bossing, bulbous tip of the nose, a pointed chin with prognathism, and deeply set eyes with mild hypertelorism. Stenoocclusive changes of both renal arteries, celiac artery, lower part of the abdominal aorta, and left intracranial artery, along with absence of the left internal carotid artery were found on examination. Whole exome sequencing was performed and revealed a pathologic mutation of JAG1, leading to the diagnosis of AGS. Reverse phenotyping detected butterfly vertebrae and normal structure and function of the liver and gallbladder. While the representative symptom of AGS in most scenarios is a hepatic problem, in this case, the presenting clinical features were the vascular anomalies. Clinical manifestations of AGS are diverse, and this case demonstrates that renovascular hypertension might be in some cases a presenting symptom of AGS.
Park, Kay-Hyun;Chae, Hurn;Park, Choong-Kyu;Jun, Tae-Gook;Park, Pyo-Won
Journal of Chest Surgery
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v.32
no.9
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pp.790-798
/
1999
Background: As the early outcome after coronary artery bypass grafting(CABG) has been stabilized, neurologic complication has now become one of the most important morbidity. The aim of this study was to find out the risk factors associated with the neurologic complications after CABG. Material and Method: In 351 patients who underwent CABG, the incidence and features of neurologic complications, with associated perioperative risk factors, were retrospectively reviewed. Neurologic complication was defined as a new cerebral infarction confirmed by postoperative neurologic examination and radiologic studies, or delayed recovery of consciousness and orientation for more than 24 hours after the operation. Result: Neurologic complications occurred in 18 patients(5.1%), of these nine(2.6%) were diagnosed as having new cerebral infarctions(stroke). Stroke was manifested as motor paralysis in four patients, mental retardation or orientation abnormality in four, and brain death in one. Statistical analysis revealed the following variables as significant risk factors for neurologic complications by both univariate and multivariate analyses: cardiopulmonary bypass longer than 180 minutes, atheroma of the ascending aorta, carotid artery stenosis detected by Duplex sonography, and past history of cerebrovascular accident or transient ischemic attack. Age over 65 years, aortic calcification detected by simple X-ray, and intraoperative myocardial infarction were significant risk factors by univariate analysis only. Neither the severity of carotid artery stenosis nor technical modifications such as cannulation of the aortic arch or single clamp technique, which were expected to affect the inciden e of neurologic complications, had significant relationship with the incidence. Conclusion: This study confirmed the strong association between neurologic complications after CABG and atherosclerosis of the arterial system. Therefore, to minimize the incidence of neurologic complications, systematic evaluation focused on atherosclerotic lesions of the arterial system followed by adequate alteration of operative strategy is needed.
Background: Vascular endothelial growth factor (VEGF) plays an important role in angiogenesis, including stimulating the proliferation and migration of vascular smooth muscle cells (VSMCs). It has been known that diabetes is associated with accelerated cellular proliferation via VEGF, as compared to that under a normal glucose concentration. We investigated the effects of selective blockade of a VEGF receptor by using anti-Flt-1 peptide on the formation and hyperplasia of the neointima in balloon injured-carotid arteries of OLETF rats and also on the in vitro VSMCS' migration under high glucose conditions. Material and Method: The balloon-injury method was employed to induce neointima formation by VEGF. For f4 days beginning 2 days before the ballon injury, placebo or vascular endothelial growth factor receptor-1 (VEGFR-1) specific peptide (anti-Flt-1 peptide), was injected at a dose of 0.5mg/kg daily into the OLETF rats. At 14 days after balloon injury, the neointimal proliferation and vascular luminal stenosis were measured, and cellular proliferation was assessed by counting the proliferative cell nuclear antigen (PCNA) stained cells. To analyze the effect of VEGF and anti-Flt-1 peptide on the migration of VSMCs under a high glucose condition, transwell assay with a matrigel filter was performed. And finally, to determine the underlying mechanism of the effect of anti-Flt-1 peptide on the VEGF-induced VSMC migration in vitro, the expression of matrix metalloproteinase (MMP) was observed by performing reverse transcription-polymerase chain reaction (RT-PCR). Result: Both the neointimal area and luminal stenosis associated with neointimal proliferation were significantly decreased in the anti-Flt-1 peptide injected rats, ($0.15{\pm}0.04 mm^2$ and $ 36.03{\pm}3.78%$ compared to $0.24{\pm}0.03mm^2\;and\;61.85{\pm}5.11%$, respectively, in the placebo-injected rats (p<0.01, respectively). The ratio of PCNA(+) cells to the entire neointimal cells was also significantly decreased from $52.82{\pm}4.20%\;to\;38.11{\pm}6.89%$, by the injected anti-Flt-1 peptide (p<0.05). On the VSMC migration assay, anti-Flt-1 peptide significantly reduced the VEGF-induced VMSC migration by about 40% (p<0.01). Consistent with the effect of anti-Flt-1 peptide on VSMC migration, it also obviously attenuated the induction of the MMP-3 and MMP-9 mRNA expressions via VEGF in the VSMCS. Conclusion: Anti-Flt-1 peptide inhibits the formation and hyperplasia of the neointima in a balloon-injured carotid artery model of OLETF rats. Anti-Flt-1 peptide also inhibits the VSMCs' migration and the expressions of MMP-3 and MMP-9 mRNA induced by VEGF under a high glucose condition. Therefore, these results suggest that specific blockade of VEGFR-1 by anti-Flt-1 peptide may have therapeutic potential against the arterial stenosis of diabetes mellitus patients or that occurring under a high glucose condition.
The purpose of this study was to utilize Magnetic Resonance Imaging (MRI) and Magnetic Resonance Angiography (MRA) to analyze intracerebral regional distributions (hot spot) of ischemic cerebrovascular diseases which were characterized by stenosis and occlusion cerebral vasculature, except for cerebrovascular diseases induced by rupture of cerebral vasculature in terms of Korean people's cerebrovascular diseases, so that it could apply the findings of analysis to clinical practices. This study focused only on analyzing intracerebral regional distributions of ischemic cerebrovascular diseases that are characterized by stenosis and occlusion cerebral vasculature, because there are different etiologic mechanisms of ischemic cerebrovascular diseases like hemorrhagic cerebrovascular diseases (caused by rupture of cerebral vasculature) and cerebral infarction (induced by atheromatous arteriosclerosis). As a result, this study could come to the following findings of analysis: 1. According to sex ratio analysis, it was found that male group comprised larger portion of total 626 subjects in this study than female one (55.0% > 45.0%). 2. According to analysis on actual intracerebral regional distributions of ischemic cerebrovascular diseases, it was found that most subjects (37.5 %) were attacked by such diseases on the right side of cerebral vasculature, which was followed by left side of cerebral vasculature (35.1%) and bilateral cerebral vasculature (27.3%) respectively. 3. According to analysis on actual intracerebral regional distributions of ischemic cerebrovascular diseases, it was found that internal carotid artery (ICA) comprised the largest portion (38.9%) of those distributions, which was followed by middle cerebral artery (MCA, 35.7%), posterior cerebral artery (PCA, 13.4%), anterior cerebral artery (ACA, 6.0%) and vertebral artery (VA, 3.3%) respectively. 4. It was found that there was no subject attacked by any disease on A-com region, and there was only one male subject attacked by cerebrovascular diseases on P-com region. 5. It was found that female group was more susceptible to the attack of cerebrovascular diseases on MCA region than male one (54.6% > 42.2%), which means significant differences depending upon sex on statistical basis ($x^2$ = 9.64, p < .01). 6. It was found that male group was more susceptible to the attack of cerebrovascular diseases on ICA region (56.4% > 46.8%), which means significant differences depending upon sex on statistical basis ($x^2$ = 5.71, p < .05). 7. Moreover, it was also found that male group was more susceptible to the attack of cerebrovascular diseases on BA region (2.3% > 0.4%), which means significant differences depending upon sex on statistical basis ($x^2$ = 4.25, p < .05). 8. However, it was found that there was not any significant difference in intracerebral vasculature-specific distributions of cerebrovascular diseases depending on age of subjects, and stenosis comprised larger portion of cerebrovascular diseases than occlusion.
Objectives : Coldness of hands and feet has been regarded to be associated with blood circulation. This study was performed to assess the correlation between erythrocyte deformability and coldness of hands and feet. Methods : 145 patients who had taken an erythrocyte deformability test were selected for this study among hospitalized patients within 4 weeks after their cerebral infarction at the Internal Medical Department at Kyunghee Oriental Medical Center from August 2008 to August 2009. We divided the selected patients into two groups, with and without of coldness of hands and feet groups. The two groups were compared on risk factors for atherosclerosis and examined for variables including erythrocyte deformability. Results : 1. On demographic variables of the patients, only body mass index was significantly lower in the coldness of hands and feet group than the control group. There was no significant difference of the rate of hypertension, diabetes mellitus, hyperlipidemia, ischemic heart disease, smoking, drinking and carotid artery stenosis between the two groups. 2. According to blood test, the coldness of hands and feet group showed significantly lower erythrocyte deformability index than the control group. 3. Body mass index and erythrocyte deformability index showed a close relationship with coldness of hands and feet in multivariate analysis. Conclusions : The correlation between the erythrocyte deformability and coldness of hands and feet in cerebral infarction patients were decreased erythrocyte deformability participated in the mechanism of coldness of hands and feet.
Park, Ji Young;Choi, Ju Young;Jung, Ji Min;Sim, Yun Su;Pyun, Gun Woo;Na, Youn Ju;Kang, Min Jung;Kang, In Sook;Lee, Si Nae;Kim, Yookyung;Jeong, Jee-Hyong;Lee, Jin Hwa;Cheon, Eun Mee;Chang, Jung Hyun
Tuberculosis and Respiratory Diseases
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v.59
no.1
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pp.97-103
/
2005
Hypereosinophilic syndrome (HES) is characterized by a sustained eosinophilia of $1,500/mm^3$ or more in the absence of any known causes or the signs and symptoms of organ involvement. We report a 64-year-old man with HES initially presenting with involvement of the liver and bone marrow. Despite controlling the eosinophilia by corticosteroid, he developed a cerebral infarction and later progressive interstitial pneumonia. Brain angiography revealed a severe stenosis of the proximal right internal carotid artery (ICA) and a complete obstruction of the intracranial ICA. An open lung biopsy revealed fibrosis and lymphoplasma cell infiltration without eosinophils, which were consistent with nonspecific interstitial pneumonia.
Purpose: The aim of this study was to analyze the post operative outcome of reconstruction with using the stomach after performing total pharyngolaryngoesophagectomy in patients with hypopharyngeal cancer or cervical esophageal cancer. Materials and Methods: We conducted a retrospective chart review of 23 patients who underwent gastric pull up for esophageal substitution at the Department of Surgery, Yonsei University College of Medicine, between January 1991 and December 2006. All the patients had transhiatal esophagectomy performed without thoracotomy. Results: There were seventeen males and six females with a median age of 58.1 years (range: 40-70 years). 19 cases were hypopharyngeal cancer, 13 cases had cancer in the pyriform sinus, 15 cases had cancer in the postcricoid area and one case had cancer in the glottic area. The rest were cervical esophageal cancers. The pathologic result was squamous cell carcinoma in all cases. The median total follow-up period was 33 months (range: 1-62 months) and there were two (8.6%) postoperative deaths: one was due to carotid rupture and the other was due to hepatic failure with liver metastasis. The complications were leakage in 1 patient (4.4%), pneumothorax in 1 patient (4.4%) and pneumonia in 1 patient (4.4%). Conclusion: The use of stomach for esophageal reconstruction has many benefits for treating hypopharyngeal cancer or cervical esophageal cancer, So, we made sure there was a sufficient length for the anastomosis after pharyngolaryngoesophagectomy and a rich blood supply from the stomach. There was a low incidence of the leakage at the anastomotic site, along with a low incidence of stenosis and bleeding.
Reconstruction of the pharynx and cervical esophagus presents a tremendous surgical challenge to the Head and Neck Surgeon. Because life expectancy of patients with advanced carcinoma of the hypopharynx, and cervical esophagus is limited, treatment must be aimed at palliation. A variety of techiques have been proposed over the years with none proving entirely satisfactory. These techiques include prosthesis; skin graft; cervical flaps; tubed cutaneous and myocutaneous chest flaps; visceral reconstruction with stomach, colon. and jejunum; and jejunal free autografts. Many factors dictate the best method of reconstruction in any given clinical situation. The goal of the surgery is a one-stage reconstruction of swallowing function with minimal morbidity to allow as short a hospital stay as posible. Nine patients underwent the free jejunal autograft reconstruction of the pharyngoesophagus after the ablative surgery for the advanced hypopharyngeal cancer. Postoperative complications included one perioperative death, two abdominal wound dehiscences, two neck hematomas, one carotid rupture, one funtional dysphagia, one late strictures. There were no graft failure, no immediate stenosis and no fistula. An oral diet was started between days 8 and 16, with an average of 9 days and median of 8 days. Patients left the hospital between days 9 and days 38, with an average of 23.4 days and median of 23 days. This method of reconstruction is advocated as reliable palliative procedure with short-term follow-up. In conclusion, we at Korea Cancer Center Hospital are of the opinion that the free jejunal autograft offers an excellent, safe and relative easy method of the pharyngeal and cervical esophageal reconstruction with significant advantages over other techiques.
Encephalo-duro-arterio-synangiosis (EDAS) is a relatively new surgical procedure for treatment of childhood moyamoya disease. We assessed regional cerebral perfusion in moyamoya patients before (1.3 mo) and after (6.8 mo) EDAS with $^{99m}Tc$-HMPAO brain SPECT. A total of 21 EDAS operations in 17 moyamoya patients was included. Preoperative CT or MRI showed cerebral infarction in 14 patients and carotid angiography showed Suzuki grade I to V stenosis in 6%, 9%, 62%, 12% and 12% of the hemispheres respectively. Preoperative SPECT showed regional hypoperfusion in all patients, bilateral frontal and temporal lobes being the most frequently involved site. $4{\times}4$ pixel sized ROIs were applied on the frontotemporal cortex in 3 slice averaged transverse tomographic images. An index of regional perfusion was measured as: PI (%)=average F-T activity/average cerebellar activity${\times}100$ Pre-EDAS ipsilateral PI ranged from 23.7 to 98.4% (mean: $74.3{\pm}17%$) and increased significantly after operation ($81.4{\pm}17%$, p<0.001). Individual post-EDAS PI improved in 15/21 cases, showed no significant change in 5 and was slightly aggravated in 1. The amount of clinical improvement (${\Delta}CI$) was graded with a scale of 0 to 4 based on frequency and severity of TIA attacks. When patients were grouped according to pre-EDAS PI, group II (PI 70-89) showed a significantly higher ${\Delta}CI$ (3.3) compared to group I (PI< 70, 1.57) or group III (PI >90, 0.5) (P< 0.001). The amount of perfusion improvement (${\Delta}PI$) showed significant correlation with ${\Delta}CI$ (r=0.42, p=0.04). ${\Delta}PI$ did not, however, correlate with the amount of neovascularization assessed angiographically in 8 patients. Serial HMPAO SPECT is an useful noninvasive study for assessing perfusion improvement after EDAS in childhood moyamoya patients.
The Journal of Korea Assosiation for Disability and Oral Health
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v.15
no.1
/
pp.40-44
/
2019
Moyamoya disease (MMD) is a chronic, occlusive cerebrovascular disease of unknown etiology characterized by progressive stenosis at the terminal portion of the internal carotid artery and an abnormal vascular network at the base of the brain. The clinical presentations of MMD include transient ischemic attacks (TIA), ischemic stroke, hemorrhagic stroke, seizures, headache, and cognitive impairment. MMD is the most important cause of stroke or TIA in children in East Asian countries. A 5-year-3-month old boy with MMD experienced cerebral infarctions five times. Cerebrovascular anastomosis surgery was performed on him four years ago. He had dysphagia, developmental delay, hemiplegia, and strabismus. Besides, a number of dental caries in primary dentition were identified during clinical oral examination. Dental treatment under general anesthesia using sevoflurane was performed due to his lack of cooperation and underlying systemic disease. MMD is associated with various medical diseases requiring thoughtful consideration during dental treatment. Crying and hyperventilation in MMD patients may cause hypocapnia and have a cerebral vasoconstrictive effect. If dental treatment is required, control of pain and anxiety is very important. General anesthesia may be considered for dental treatment in uncooperative or very young patients with MMD.
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