Identifying the KAT6B Mutation via Diagnostic Exome Sequencing to Diagnose Say-Barber-Biesecker-Young-Simpson Syndrome in Three Generations of a Family

Diagnostic exome sequencing (DES) is a powerful tool to analyze the pathogenic variants leading to development delay (DD) and intellectual disability (ID). Recently, heterozygous de novo mutation of the histone acetyltransferase encoding gene KAT6B has been recognized as causing a syndrome with congenital anomalies and intellectual disability, namely Say-Barber-Biesecker-Young-Simpson (SBBYS) syndrome. Here we report a case of SBBYS syndrome in a third generation Korean family affected with a missense mutation in KAT6B, c.2292C>T p.(His767Tyr) identified by DES. This is the first confirmed familial inherited mutation of the KAT6B reported worldwide. Our case emphasizes again the importance of basic physical examination and taking a family history. Furthermore, advances in genetic diagnostic tools are becoming key to identifying the etiology of DD and ID. This allows a physiatrist to predict the disease's clinical evolution with relative certainty, and offer an appropriate rehabilitation plan for patients.

Posterior Deltoid-to-Triceps Tendon Transfer for Elbow Extension in a Tetraplegia Patient: A Case Report

In tetraplegia patients, activities of daily living are highly dependent on the remaining upper limb functions. In other countries, upper limb reconstruction surgery to improve function has been applied to diverse cases, but few cases have been reported in Korea. The current authors experienced a case of posterior deltoid-to-triceps tendon transfer and rehabilitation in a complete spinal cord injury with a C6 neurologic level, and we introduce the case-a 36-year-old man-with a literature review. The patient's muscle strength in C5 C6 muscles were normal, but C7 muscles were trace, and the Spinal Cord Independence Measure III (SCIM III) score was 24. The tendon of the posterior deltoid was transferred to the triceps brachii muscle, and then the patient received comprehensive rehabilitative treatment. His C7 muscle strength in the right upper extremity was enhanced from trace to fair, and his SCIM III score improved to 29.

The Effect of Post-Stroke Depression on Rehabilitation Outcome and the Impact of Caregiver Type as a Factor of Post-Stroke Depression

OBJECTIVE: To evaluate the effect of post-stroke depression (PSD) on rehabilitation outcome and to investigate the risk factors of PSD, especially, the role of caregivers type (family or professional) in subacute stroke patients. METHODS: Two hundred twenty-six stroke patients were enrolled retrospectively. All the subjects' basic characteristics, Korean version of the Beck Depression Inventory (K-BDI), Korean version of the Modified Barthel Index (K-MBI), and the modified Rankin Scale (mRS) were recorded when the patient was transferred into the Department of Rehabilitation Medicine and at the time of discharge. The results were statistically analyzed by using SPSS ver. 20.0. RESULTS: The patients' K-BDI score showed a significantly negative association with K-MBI at discharge (beta=-0.473, p<0.001) and a significantly positive association with the mRS score at discharge (beta=0.316, p<0.001). Patients with lesions on the left hemisphere (odds ratio [OR], 3.882; 95% confidence interval [CI], 1.726-8.733) and professional caregiver support (OR, 0.028; 95% CI, 0.012-0.065) had a higher rate of depression. CONCLUSION: Depression was prevalent in stroke patients, and it had a negative effect on patients' functional outcome. Patients who had a lesion on the right hemisphere had less depression. The type of caregiver was related to the incidence of subacute PSD, and family caregivers were found to lower the frequency of stroke patients' depression.

Short-Term Change of Handgrip Strength After Trigger Point Injection in Women With Muscular Pain in the Upper Extremities

OBJECTIVE: To determine overall handgrip strength (HGS), we assessed the short-term change of HGS after trigger point injection (TPI) in women with muscular pain in the upper extremities by comparison with established pain scales. METHODS: The study enrolled 50 female patients (FMS with MPS group: 29 patients with combined fibromyalgia [FMS] and myofascial pain syndrome [MPS]; MPS group: 21 patients with MPS) who presented with muscular pain in the upper extremities at Konyang University Hospital. In addition, a total of 9 healthy women (control group) were prospectively enrolled in the study. We surveyed the three groups using the following established pain scales: the Fibromyalgia Impact Questionnaire (FIQ), the 36-Item Short Form Health Survey (SF-36), and the Short Form McGill Pain Questionnaire (MPQ). HGS was measured in both hands of study participants using a handgrip dynamometer. We performed TPI (0.5% lidocaine, total 10 mL, injected at the pain site of upper extremities). After 20 minutes, we remeasured the patient's HGS and MPQ score. RESULTS: ANOVA analysis was conducted among groups. Based on Tukey multiple comparison test, the majority of FIQ and SF-36 subscales, total FIQ and SF-36 scores, MPQ and HGS were significantly different between FMS with MPS and the other groups. There was no statistically significant difference between MPS and control groups. Higher HGS was positively associated with enhanced physical function, negatively associated with total FIQ and MPQ scores, and positively associated with the total SF-36 score calculated using Spearman correlation. Post-TPI MPQ decreased and HGS increased. In patient groups, a negative correlation was found between MPQ and HGS. CONCLUSION: The HGS test might potentially be a complementary tool in assessing the short-term treatment effects of women with muscular pain in the upper extremities.

Short-Term Change of Handgrip Strength After Trigger Point Injection in Women With Muscular Pain in the Upper Extremities

OBJECTIVE: To determine overall handgrip strength (HGS), we assessed the short-term change of HGS after trigger point injection (TPI) in women with muscular pain in the upper extremities by comparison with established pain scales. METHODS: The study enrolled 50 female patients (FMS with MPS group: 29 patients with combined fibromyalgia [FMS] and myofascial pain syndrome [MPS]; MPS group: 21 patients with MPS) who presented with muscular pain in the upper extremities at Konyang University Hospital. In addition, a total of 9 healthy women (control group) were prospectively enrolled in the study. We surveyed the three groups using the following established pain scales: the Fibromyalgia Impact Questionnaire (FIQ), the 36-Item Short Form Health Survey (SF-36), and the Short Form McGill Pain Questionnaire (MPQ). HGS was measured in both hands of study participants using a handgrip dynamometer. We performed TPI (0.5% lidocaine, total 10 mL, injected at the pain site of upper extremities). After 20 minutes, we remeasured the patient's HGS and MPQ score. RESULTS: ANOVA analysis was conducted among groups. Based on Tukey multiple comparison test, the majority of FIQ and SF-36 subscales, total FIQ and SF-36 scores, MPQ and HGS were significantly different between FMS with MPS and the other groups. There was no statistically significant difference between MPS and control groups. Higher HGS was positively associated with enhanced physical function, negatively associated with total FIQ and MPQ scores, and positively associated with the total SF-36 score calculated using Spearman correlation. Post-TPI MPQ decreased and HGS increased. In patient groups, a negative correlation was found between MPQ and HGS. CONCLUSION: The HGS test might potentially be a complementary tool in assessing the short-term treatment effects of women with muscular pain in the upper extremities.

The Effects of Probucol Combined with Antiplatelets on the Coronary Stented Patients

BACKGROUND: An antioxidant, probucol, prevents endothelial dysfunction and low density lipoprotein oxidation and also inhibits the secretion of interleukin-1 by macrophages. These effects of probucol may result in decreased production of matrix metalloproteinases by smooth muscle cells and thus modify remodeling of the extracellular matrix. METHODS AND MATERIALS: We analyzed clinical events at 1 month and 6 months in 337 patients with 363 coronary arterial lesions after coronary stenting at Chonnam National University Hospital between January 1998 and May 1999. The patients were assigned to following four modalities: 500 mg of tilcipidine daily (Group I), 200 mg of cilostazol daily (Group II), 500 mg of probucol in addition to 500 mg of ticlipidine daily (Group III), and 500 mg of probucol in addition to 200 mg of cilostazol daily (Group IV). All patients received aspirin. RESULTS: Group I comprised of 149 (104 M, 45 F, 62+/-10 years), Group II 96 (73 M, 23 F, 60+/-10 years), Group III 50 (32 M, 18 F, 61+/-10 years), and Group IV 42 (32 M, 10 F, 62+/-10 years) patients. Clinical diagnosis was not different among four groups. Major adverse cardiac events, including myocardial infarction, cardiac death, and repeated intervention, at 1 month were 7 (4.7%) in Group I, 2 (2.1%) in Group II, 0 (0%) in Group III, 2 patients (4.8%) in Group IV, and those at 6 months were 29 (19.5%) in Group I, 17 (17.7%) in Group II, 9 (18.0%) in Group III, and 6 patients (14.3%) in Group IV. CONCLUSIONS: Probucol combined with aspirin and cilostazol has a tendency reducing the major cardiac events compared with aspirin and ticlopidine or cilostazol after stenting.

The Effects of Local Endothelin Receptor Blocker Delivery on Porcine Coronary Stent Restenosis / 대한내과학회지

OBJECTIVES:Coronary stent is one of the most effective currently available devices in the treatment of coronary artery diseases. But, coronary stent restenosis is one of major limitations in clinical stenting. Local drug delivery may be a new strategy for the prevention of stent restenosis. Endothelin receptor blocker is known to have vasodilatory and antiproliferative activities. To investigate the effects of local endothelin receptor blocker delivery on stent restenosis, local delivery was performed in the porcine model of coronary stent restenosis. METHODS: Stent overdilation injury alone was performed in the control porcine coronary arteries (n=4, group A) and local delivery of endothelin receptor blocker prior to stenting was performed in the porcine coronary artery (n=9, group B). Endothelin receptor blocker (TAK-044, Takeda, Japan) was delivered at a rate of 1 ml/min (50 mg/10 ml) using the Dispatch Catheter. Follow-up quantitative coronary angiogram (QCA) and immunohistopathologic assessment were performed 4 weeks after stenting. RESULTS: 1) On QCA, percent diameter stenosis was significantly higher in Group A than in Group B (29.4+/-6.1 % vs. 14.5+/-11.6%, p<0.05). 2) Area stenosis was higher in Group A than in Group B (63.5+/-23.2 % vs. 40.9+/-13.3 %) measured by histopathologic method (p<0.05). 3) Neointimal area was higher in Group A than in Group B (3.53+/-1.9 mm2 vs. 1.75+/-0.8 mm2, p=0.03). 4) By immunocytochemistry, proliferating cell nuclear antigen index was higher in Group A compared with Group B (46.8+/-5.2 % vs. 31.1+/-3.7 %, p<0.05). CONCLUSION: Local delivery of endothelin receptor blocker is effective in the prevention of stent restenosis in a porcine model, which may be related with the partial inhibition of cell proliferation of neointimal cells.

A Case of Metastatic Carcinoma en Cuirasse and Nodular Carcinoma from Gastric Carcinoma / 대한내과학회지

Cutaneous metastases from gastric carcinoma are uncommon. The frequency of metastses to the skin from gastric carcinoma have ranged from 0.3% to 0.4%. Carcinoma en cuirasse, first described by Velpeau in 1838, is marked sclerodermatous change and characterized by a difffuse morphea-like induration of the skin and represents a rare manifestations of breast carcinoma metastatic to the chest wall. It is vary rarely seen in lung, stomach, kidney and other metastasizing malignancies. We report a case of carcinoma en cuirase and nodular carcinoma from gastric carcinoma in a 36-year-old male who complained chiefly of multiple cutaneous nodules. He had mixed lesions of an erythematous morphea-like induration on the neck and multiple erythematous nodules on the chest and abdomen. Gastroscopy finding showed a Borrmann type IV advanced gastric carcinoma. Histopathologic examination of skin and stomach showed atypical cells with pleomorpic, hyperchromatic nuclei and scanty, eosinophilic cytoplasm, which are consistent with poorly differentiated adenocarcinoma. Immunohistochemical stainings showed positive reaction for cytokeratin. He died three months after the appearance of cutaneous lesions.

The Effects of the Heparin-Coated Maximum Arterial Re-Creation (MAC) Stent on Porcine Coronary Stent Restenosis

BACKGROUND: Stent thrombosis and late restenosis are still major limitations in the clinical use of coronary stenting. Heparin-coated stent may reduce the incidences of stent thrombosis and restenosis. Heparin-coated stents were compared with control stents in a porcine coronary stent restenosis model in order to evaluate the effects of heparin-coated stent on stent restenosis. METHODS: Heparin was coated on a stent by deposition of an ultra-thin polymeric film containing amine groups by means of plasma polymerization. And then stent was immersed in heparin solution. Stent overdilation injury (stent:artery=1.3:1.0) was performed with bare (Group I, n=4) and heparin-coated (Group II, n=5) MAC stents in porcine coronary arteries. Follow-up quantitative coronary angiography (QCA) was performed at 4 weeks after stenting. The histopathologic assessments (KERN=*)of stented porcine coronary arteries were compared in between 2 groups. RESULTS: 1)Luminal area of stented artery was 7.05+/-1.25 mm2 in Group I and 7.67+/-2.85 mm2 in Group II, which were not different between two Groups. 2)Histopathologic stenosis of Group I was 35.7+/-13.2%, which was higher than 28.6+/-14.7% of Group II (p<0.05). Ratio of neointima/media was 1.16+/-0.52 in Group I and 0.87+/-0.31 in Group II and neointimal area was higher in Group I than in Group II (3.81+/-1.78 mm2 vs. 2.82+/-1.11 mm2, p<0.05 respectively). 3)PCNA (Proliferating cell nuclear antigen) index of GroupI was 10.0+/-2.2%, which was higher than in Group II (6.8+/-4.0%). CONCLUSIONS: Heparin-coated MAC stent may be effective in the inhibition of neointimal proliferation in a porcine stent restenosis model.

A Case of Benign Solitary Endobronchial Neurilemmoma / 대한내과학회지

Intrabronchial nerilemmoma is very rare disease. Neurilemmoma has been thought to arise from schwann cell, has been reported to occur in almost any anatomic location. The incidence of primary neurogenic tumors of the lung has been estimated to be 0 to 2 percent of all lung tumors. These tumors are predominantly(75%) associated with neurofibromatosis of von Recklinghausen's disease. To our knowledge, no case of benign solitary endobronchial neurilemmoma has been reported in Korea. This paper presents a case of benign solitary endobronchial neurilemmoma with a brief review of the pertinent literature. A 19 year old female visited our medical hospital with the symptoms of chest discomfort and pain. Bronchoscopy and chest CT scan revealed a mass on the left upper 1obar bronchus. Left upper lobectomy was performed successfully and histological section revealed a neurilemmoma.

A Case of Saccular Arteriosclerotic Aortic Aneurysm Associated with Thrombus in Aortic Arch

An aortic aneurysm is described as a permanent localized dilatation of the aorta having a diameter at least 1.5 times that of the expected norrnal diameter of that given aortic segment. Thoracic aortic aneurysms are much less common than are aneurysms of the abdominal aorta. Thoracic aneurysms are classified by the portion of aorta involved, I.e., the ascending, arch, or descending thoracic aorta. We experienced a case of saccular arteriosclerotic aortic aneurysm associated with thrombus in aortic arch in a 78 year-old male who had history of hypertension. He was admitted to Kwangju Veterans Hospital complaining of drowsy mental state and swelling of left foreann. The chest X-ray, chest CT and echocardiogram showed saccular dilatation(maximal diarneter ; 7.67~7.86cm) associated with thrombus in aortic arch. He refused operation because of old age, so he was conservatively rnanaged including propranolol. We report this case of saccular arteriosclerotic aneurysm of aortic arch with a brief review of literature.

A Case of Polycythemia Vera Presenting with Angina Pectoris without Coronary Artery Stenosis

The majority of ptients with ischemic heart disease such as angina pectoris and myocardial infarction have coronary atherosclerosis as a underlying cause. However, in unusual conditions such as variant angina, aortic valvular heart disease, hypertrophic cardiomyopathy, vasculitis, hypercoagulable states, coronary atherosclerosis is not the cause. Polycythemia vesa is a myeloproliferative disease characterized by infrequent thromboembolic complications such as ischemic heart disease. We report a case of polycythemia vera presenting with angina pectoris without coronary artery stenosis with the review of the literature.