• Journal of Society of Preventive Korean Medicine
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• v.1 no.1
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• pp.105-117
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• 1997

The result of this paper runs as follows: 1. The theory of preclinic phase (=mibyung) was scientifically completed as one basic philosophy in "NAEKYUNG(內經)" and on influenced in the coming generations. Two principles for mibyung is to grow good energy and to avoid etiological cause. 2. So far oriental medicine has responded to already diseases, while to recognize the importance of mibyung is to convert it into preventive medicine which study and improve health. In spite of the opinion that no disease is health and no health is disease, the contrite of medical approch by the relative importance is necessary by understanding the steps of mibyung between health and disease with subdividing the steps of the occurance therefore, the scope of oriental medicine may be recognized from every disease to mibyung, that is, health. 3. Diagnosing and treating in the step of mibyung has more important meaning than suffering step because the checkup of mibyung means early examination and treatment. Mibyung can make an opportunity that improve scientific contradiction and defect of oriental medicine. However, scince the theory and practice lack the arrangement and study, much exertion and discussion is necessary.4. The diagnosis and cure in mibyung doesn't have many methods for treating, its index and standard isn't nified, and related theory is of small quantity. But the most prominent means of solution. with combination with other sciences and through the convertion into modem clinical examination, is to accomplish moderization, objectivity and indexation, etc. 5. The representive mibyungs are a hereditary disease, immune lack, mutation, early tumor, incubation of hepatitis and each infectious diseases, stress, etc. Since every science is the product of the times, it has the historical limits. As the times develop, the desire for good health is growing. Therefore we should consider above request in this times.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.18 no.1
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• pp.69-77
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• 1996

The midfacial deficiency is usually accompanied with congenital craniofacial synostosis, such as Crouzon, Apert, Pfeiffer, Carpenter, Saethre-Chotzen syndrome, and so on. But sometimes isolated midfacial deficiency without cranial malformations may appeared, the cause of which is congenital, hereditary, or secondary to developmental factors, such as infection and trauma to middle face. Since Sir Harold Gillies reposted the first high maxillary osteotomy that alleviated the problems of total midfacial deficiency, the various operative methods were developed by many clinicians, such as Longacre and Tessier. These procedures can enlarge the orbital volume and decreases exorbitism. As middle face was moved forward, these functional, esthetic, and psychologic advantages were resulted from this. This is a case of midfacial deficiency corrected by the subcranial Le Fort Ⅲ osteotomy through only coronal approach.

• Annals of Clinical Neurophysiology
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• v.7 no.2
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• pp.65-74
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• 2005

Charcot-Marie-Tooth (CMT) disease was described by Charcot and Marie in France and, independently, by Tooth in England in 1886. CMT is the most common form of inherited motor and sensory neuropathy, and is a genetically heterogeneous disorder of the peripheral nervous system. Therefore, many genes have been identified as CMT-causative genes. Traditionally, subclassification of CMT have been divided into autosomal dominant inherited demyelinating (CMT1) and axonal (CMT2) neuropathies, X-linked neuropathy (CMTX), and autosomal recessive inherited neuropathy (CMT4). Recently, intermediate type (CMT-Int) with NCVs between CMT1 and CMT2 is considered as a CMT type. There are several related peripheral neuropathies, such as $D{\acute{e}}j{\acute{e}}rine$-Sottas neuropathy (DSN), congenital hypomyelination (CH), hereditary neuropathy with liability to pressure palsies (HNPP) and giant axonal neuropathy (GAN). Great advances have been made in understanding the molecular basis of CMT, and 17 distinct genetic causes of CMT have been identified. The number of newly discovered mutations and identified genetic loci is rapidly increasing, and this expanding list has proved challenging for physicians trying to keep up with the field. Identifying the genetic cause of inherited neuropathies is often important to determine at risk family members as well as diagnose the patient. In addition, the encouraging studies have been published on rational potential therapies for the CMT1A. Now, we develop a model of how the various genes may interact in the pathogenesis of CMT disorder.

• Journal of Veterinary Clinics
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• v.20 no.4
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• pp.478-481
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• 2003

Canine juvenile cellulitis (CJC) is a well-recognized lymphocutaneous disease that is seen in young dogs. CJC seemed to be immunologic disorder and may have a hereditary aspect. Exact pathogenesis and cytokine regulation on the immune system of CJC are not clear. CJC was diagnosed in two puppies hospitalized in Veterinary Teaching Hospital of Chungbuk National University. To investigate the cytokine regulation on CJC, RT-PCR was performed with CJC affected dogs. RT-PCR 1 was performed with whole blood sample (CJC-B) and fine needle aspirates of the inguinal lymph node (CJC-LN) from case 1-dog, which included $TNF-\alpha,$ $IL-1\beta,$ $IFN-\gamma,$ IL-2, IL-4, IL-5, IL-6, IL-8, IL-10, IL-12 and $\beta-actin.$ Blood sample from a normal dog (N-B) served for a negative control of RT-PCR 1 (case 1). $IFN-\gamma,$ IL-2, IL-4, IL-5, IL-8, IL-10 and IL-12 transcripts were not expressed in all sample. $TNF-\alpha$ and $IL-1\beta,$ were not transcripted from CJC-B but from CJC-LN. On RT-PCR 2 (case 2), submandibular lymph node aspirates were used and $TNF-\alpha,$ IL-10, $IFN-\gamma$ and $IL-1\beta$ were expressed. $TNF-\alpha,$ 1L-10 and $IFN-\gamma$ were secreted from activated macrophages enhance the inflammation in tissue. These results imply that abnormally increased macrophages secret $TNF-\alpha$ and $IL-1\beta$ in the affected lymph nodes, which attract neutrophils and cause inflammation in CJC.

• Toxicological Research
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• v.30 no.4
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• pp.267-276
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• 2014

Exposures to lead (Pb) are associated with neurological problems including psychiatric disorders and impaired learning and memory. Pb can be absorbed by iron transporters, which are up-regulated in hereditary hemochromatosis, an iron overload disorder in which increased iron deposition in various parenchymal organs promote metal-induced oxidative damage. While dysfunction in HFE (High Fe) gene is the major cause of hemochromatosis, the transport and toxicity of Pb in Hfe-related hemochromatosis are largely unknown. To elucidate the relationship between HFE gene dysfunction and Pb absorption, H67D knock-in Hfe-mutant and wild-type mice were given drinking water containing Pb 1.6 mg/ml ad libitum for 6 weeks and examined for behavioral phenotypes using the nestlet-shredding and marble-burying tests. Latency to nestlet-shredding in Pb-treated wild-type mice was prolonged compared with non-exposed wild-types (p < 0.001), whereas Pb exposure did not alter shredding latency in Hfe-mutant mice. In the marble-burying test, Hfe-mutant mice showed an increased number of marbles buried compared with wild-type mice (p = 0.002), indicating more repetitive behavior upon Hfe mutation. Importantly, Pb-exposed wild-type mice buried more marbles than non-exposed wild-types, whereas the number of marbles buried by Hfe-mutant mice did not change whether or not exposed to Pb. These results suggest that Hfe mutation could normalize Pb-induced behavioral alteration. To explore the mechanism of repetitive behavior caused by Pb, western blot analysis was conducted for proteins involved in brain dopamine metabolism. The levels of tyrosine hydroxylase and dopamine transporter increased upon Pb exposure in both genotypes, whereas Hfe-mutant mice displayed down-regulation of the dopamine transporter and dopamine D1 receptor with D2 receptor elevated. Taken together, our data support the idea that both Pb exposure and Hfe mutation increase repetitive behavior in mice and further suggest that these behavioral changes could be associated with altered dopaminergic neurotransmission, providing a therapeutic basis for psychiatric disorders caused by Pb toxicity.

• The Korean Journal of Legal Medicine
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• v.40 no.2
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• pp.61-64
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• 2016

Ehlers-Danlos syndrome type IV (EDS IV) is a hereditary disorder of the connective tissue, characterized by easy bruising, thin skin with visible veins, and spontaneous rupture of the large arteries, uterus, or bowel. EDS IV is caused by mutations of the gene for type III procollagen (COL3A1), resulting in insufficient collagen production or a defect in the structure of collagen. EDS IV can have fatal complications such as the rupture of great vessels or organs, which can cause hemorrhaging and sudden unexpected death. Here, we report a case of a 43-year-old female who collapsed after a struggle with a neighbor. In this patient, the bifurcation of the bilateral common iliac artery ruptured, with no evidence of trauma, inflammation, or atherosclerosis. Genetic analysis of COL3A1 showed the presence of a c.2771G>A (p.Gly924Arg) mutation, which may be associated with EDS IV. The forensic pathologist should consider the possibility that the spontaneous visceral or arterial rupture was caused by EDS IV. Genetic analysis is not currently a routine procedure during autopsy. However, in this case, we suggest that the patient possibly had an underlying EDS IV condition, and we recommended family members of the deceased to seek genetic analysis and counseling.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.25 no.6
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• pp.441-452
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• 2022

Congenital diarrheal disorders (CDDs) with genetic etiology are uncommon hereditary intestinal diseases characterized by chronic, life-threatening, intractable watery diarrhea that starts in infancy. CDDs can be mechanistically divided into osmotic and secretory diarrhea. Congenital tufting enteropathy (CTE), also known as intestinal epithelial dysplasia, is a type of secretory CDD. CTE is a rare autosomal recessive enteropathy that presents with intractable neonatal-onset diarrhea, intestinal failure, severe malnutrition, and parenteral nutrition dependence. Villous atrophy of the intestinal epithelium, crypt hyperplasia, and irregularity of surface enterocytes are the specific pathological findings of CTE. The small intestine and occasionally the colonic mucosa include focal epithelial tufts. In 2008, Sivagnanam et al. discovered that mutations in the epithelial cell adhesion molecule (EpCAM, MIM# 185535) were the genetic cause of CTE (MIM# 613217). More than a hundred mutations have been reported to date. Furthermore, mutations in the serine peptidase inhibitor Kunitz type 2 (SPINT2, MIM# 605124) have been linked to syndromic CTE. In this study, we report the case of a 17-month-old male infant with congenital diarrhea. Despite extensive etiological workup, no etiology could be established before admission to our center. The patient died 15 hours after being admitted to our center in a metabolically decompensated state, probably due to a delay in admission and diagnosis. Molecular autopsy with exome sequencing revealed a previously reported homozygous missense variant, c.757G>A, in EpCAM, which was confirmed by histopathological examination.

• Journal of Chest Surgery
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• v.13 no.3
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• pp.174-185
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• 1980

It was my great nohour that I can be exposed to such plenty materials of the coronary bypass surgery. Here, I am summarizing the xoronary bypass surgery, clinically. The material is serial 101 patients who underwent coronary bypass surgery between July 17, 1979 to November 30, 1979 in Shadyside Hospital, University of Pittsburgh. 1. Incidence of the Atherosclerosis is frequent in white, male, fiftieth who are living in industrialized country. It has been told the etiologic factor of the atherosclerosis is hereditary, hyperlipidemia, hypertension, smoking, drinking, diabetes, obesity, stress, etc. 2. The main and most frequent complication of the coronary atherosclerosis is angina pectoris. Angina pectoris is the chief cause of coronary bypass surgery and the other causes of coronary bypass surgery are obstruction of the left main coronary artery, unstable angina, papillary muscle disruption or malfunction and ventricular aneurysm complicated by coronary artery disease. 3. The preoperative clinical laboratory examination shows abnormal elevation of plasma lipid in 82 patint, plasma glucose in 40 patient, total CPK-MB in 24 patient stotal LDH in 22 patient out of 101 patient. 4. Abnormal ECG findings in preoperative examine were 29.1% myocardial infarction, 25.8% ischemia and injury, 14.6T conduction defect. 5. Also we had done Echocardiography, Tread Mill Test, Myocardial Scanning, Vectorcardiography and Lung function test to get adjunctive benefit in prediction of prognosis and accurate diagnosis. 6. The frequency of coronary atherosclerosis in main coronary arteries were LAD, RCA and Circumflex in that order. 7. The patients' main complaints which were became as etiologic factor undergoing coronary bypass surgery were angina, dyspnea, diaphoresis, dizziness, nausea and etc. 8. For the coronary bypass surgery, we used cardiopulmonary bypass machine, non-blood, diluting prime, cold cardioplegic solution and moderate cooling for the myocardial protection. 9. We got the grafted veins from Saphenous and Cephalic vein. Reversed and anastomosed between aorta and distal coronary A. using 5-0 and 7-0 prolene continuous suture. Occasionally we used internal mammary A. as an arterial blood source and anastomosed to the distal coronary A. and to side fashion. 10. The average cardiopulmonary bypass time for every graft was 43.9 min. and aortic clamp time was 23 minute. We could Rt. coronary A. bypass surgery only by stand by the cardiopulmonary machine and in the state of pumping heart. 11. Rates by the noumbers of graft were as follow : 21.8% single, 33.7% double, 26.7% triple, 13.9% quadruple, 3% quintuple and 1% was sixtuple graft. 12. combined procedures with coronary bypass surgery were 6% aneurysmectomy, 3% AVR, 1% MVR, 13% pacer implantation and 1% intraaortic ballon setting. 13. We could see the complete abolition of anginal pain after operation in 68% of patient, improvement 25.8%, no change in 3.1%, and there was unknown in 3%. 14. There were 4% immediate postoperative deaths, 13.5% some kinds of heart complication, 51.3% lung complications 33.3% pleural complications as prognosis.

• Asian Pacific Journal of Cancer Prevention
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• v.17 no.3
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• pp.1089-1092
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• 2016

Breast cancer is the most commonly occurring and leading cause of cancer deaths among women globally. Hereditary cases account 5-10% of all the cases and CHEK2 is considered as a moderate penetrance breast cancer risk gene. CHEK2 plays a crucial role in response to DNA damage to promote cell cycle arrest and repair DNA damage or induce apoptosis. Our objective in the current study was to analyze mutations in the CHEK2 gene related to breast cancer in Balochistan. A total of 271 individuals including breast cancer patients and normal subjects were enrolled. All 14 exons of CHEK2 were amplified and sequenced. The majority of the patients (>95%) had invasive ductal carcinomas (IDCs), 52.1% were diagnosed with tumor grade III and 56.1% and 27.5% were diagnosed with advance stages III and IV. Two novel nonsense variants i.e. c.58C>T (P.Q20X) and c.256G>T (p.E85X) at exon 1 and 2 in two breast cancer patients were identified in the current study. Both the variants identified were novel and have not been reported elsewhere.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.18
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• pp.7533-7537
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• 2014

Background: Breast cancer (BC) is the most frequent cancer type, and the leading cause of death from cancer among women in Israel. The Bedouin-Arab (BA) population in southern Israel is characterized by a high rate of consanguinity, common hereditary disorders, and transition from a semi-nomadic, traditional society to a more sedentary and urbanized society. In this hospital-based study, the demographic and the clinicopathological characteristics of BC in BA were compared with Jewish patients. Materials and Methods: 85 BA patients treated at the Soroka Medical Center, Beer Sheba, during the years 2004-2012, were studied and compared with 180 consecutive Jewish patients treated during the year 2007. Clinicopathological features compared included age, menopausal state, number of births, a history of BC in first-degree relatives, tumor size (T), extent of lymph-node involvement (N), distant metastases (M), stage, grade, estrogen and progesterone receptor (ER/PR), and Her2 status. Types of treatment, relapse rate and site, as well as outcome were also studied. Cox's regression models were applied for studying disease-free, and overall survival. Results: Compared with Jewish patients, BA patients were younger (average age $49{\pm}12$ yrs vs $59{\pm}13$, p<0.001), had a lower rate of BC in first-degree relatives (p<0.001), and a larger number of births ($6{\pm}4.2$ vs $2.5{\pm}1.9$, p<0.001). BA patients had larger tumors (p=0.02), more extensive lymph-node involvement (p=0.002), and more advanced stage (p=0.003). Grade, ER, PR, and Her2 status were similar in the two ethnic groups. Relapse type was most commonly systemic in BA patients (p=0.05), and loco-regional in Jewish patients (p=0.02). Median survival was 63, and 35 months for Jewish and BA patients, respectively (log-rank test, p=0.02). In Cox multivariate analysis, stage and PR status (HR-0.14, p<0.0001; HR-3.11, p=0.046), but not ethnicity, influenced overall survival. Conclusions: BC presents a decade earlier, and with more advanced disease in BA compared with Jewish patients. Biologic parameters including grade, ER, PR, and Her2 status were similar in both groups. Although prognosis was worse in BA than in Jewish patients, it was affected only by stage and PR status, but not by ethnicity.