• Journal of Genetic Medicine
• /
• v.16 no.1
• /
• pp.23-26
• /
• 2019

Thrombophilia refers to inherited or acquired hemostatic disorders that result in a predisposition to blood clot formation. When combined with the hypercoagulable state that is characteristic of pregnancy, there is an increased risk of severe and recurrent pregnancy complications. Activated protein C resistance caused by factor V Leiden (FVL) mutation is known to be the most common cause of inherited thrombophilia in Caucasian population. FVL mutation has been related to pregnancy complications associated with hypercoagulation, e.g. miscarriage, intrauterine fetal demise, placental abruption, and intrauterine growth retardation. Although the FVL mutation is easily detected using molecular DNA techniques, patients who are heterozygous for this disorder often remain asymptomatic until they develop a concurrent prothrombotic condition. Because there are potentially serious effects of FVL mutation for pregnancy, and because effective treatment strategies exist, early detection and treatment of this condition might be considered.

• Clinical and Experimental Pediatrics
• /
• v.50 no.10
• /
• pp.931-937
• /
• 2007

The hemolytic uremic syndrome (HUS) is a rare disease of microangiopathic hemolytic anemia, low platelet count and renal impairment. HUS usually occurs in young children after hemorrhagic colitis by shigatoxin-producing enterohemorrhagic E. coli (D+HUS). HUS is the most common cause of acute renal failure in infants and young children, and is a substantial cause of acute mortality and morbidity; however, renal function recovers in most of them. About 10% of children with HUS do not reveal preceding diarrheal illness, and is referred to as D- HUS or atypical HUS. Atypical HUS comprises a heterogeneous group of thrombomicroangiopathy (TMA) triggered by non-enteric infection, virus, drug, malignancies, transplantation, and other underlying medical condition. Emerging data indicate dysregulation of alternative complement pathway in atypical HUS, and genetic analyses have identified mutations of several regulatory genes; i.e. the fluid phase complement regulator Factor H (CFH), the integral membrane regulator membrane cofactor protein (MCP; CD46) and the serine protease Factor I (IF). The uncontrolled activation of the complement alternative pathway results in the excessive consumption of C3. Plasma exchange or plasma infusion is recommended for treatment of, and has dropped the mortality rate. However, overall prognosis is poor, and many patients succumb to end-stage renal disease. Clinical presentations, response to plasma therapy, and outcome after renal transplantation are influenced by the genotype of the complement regulators. Thrombotic thrombocytopenic purpura (TTP), another type of TMA, occurs mainly in adults as an acquired disease accompanied by fever, neurologic deficits and renal abnormalities. However, less frequent cases of congenital or hereditary TTP associated with ADAMTS-13 (a disintegrin and metalloprotease, with thrombospondin 1-like domains 13) gene mutations have been reported, also. Recent advances in molecular genetics better allow various HUS to be distinguished on the basis of their pathogenesis. The genetic analysis of HUS is important in defining the underlying etiology, predicting the genotype-related outcome and optimizing the management of the patients.

• Journal of Sericultural and Entomological Science
• /
• v.4
• /
• pp.63-68
• /
• 1965

This treatise was carried out to study the hereditary phenomenon of silk lousiness and the interaction of genes related with silk lousiness. It was also studied how to improve the silk lousiness of general raw silk by refining process because the selective process was found as unsatisfactory method. The conclusions reached were as follows. A. Conclusions related with genetic problem. 1. The decreased effects of the lousiness were 11 % in the F$_1$ hybrids. 2. Lousiness was considered to inherit as the incomplete dominance. 3. The effects of the lousiness gene were additive, and the lousiness of raw silk might be influenced by more than two genes. 4. The quantitative characters of cocoons were not genetically correlated with the occurrence of lousiness. 5. Lousiness could not be said to occur more in the heavy-cocoon strains. 6. The microscopic lousiness test of this paper showed the same result of the international exforiation test. B. Conclusions related with lousiness improvement. 1. Raw silk was able to be refined by the employment of 0.2% cationic softener solution for 30 minutes at 95$^{\circ}C$, supressing the occurrence of lousiness. 2. Anionic chemical softener was not available for silk refining process. 3. The above cationic softener refining prosess did not cause any physical defect for the silk fiber. 4. Soap refining process caused silk lousiness easily.

• Journal of Yeungnam Medical Science
• /
• v.16 no.1
• /
• pp.125-130
• /
• 1999

Congenital myotonia is a hereditary disorder of the skeletal muscle. The most characteristic features of the disease are myotonia and variable muscular hypertrophy. Molecular biologic investigations have revealed that mutations in the gene of the human skeletal muscle chloride ion channel protein are a cause of the disease. The Becker's type congenial myotonia is clinically similar to the autosomal dominantly inherited congenital myotonia (Thomsen's disease). Both disorders are characterized electrophysiologically by increased excitability of muscle fibers. reflected in clinical myotonia. In general, Becker's type congenital myotonia is more severe than Thomsen's disease in muscular hypertrophy and weakness. The authors recently experienced a 25-year-old female patient who has no family-related disease history and who has conspicuous muscular hypertrophy and the stiffness with muscles which occurred from the age of 3 or 4. Clinically she showed the authors a percussion myotonia. On electrophysiological study, exercise and repetitive stimulation of the abductor digiti quinti muscle disclosed a decline in the compound muscle action potential. Biopsy of biceps muscle revealed enlargement of muscle fibers with marked nuclear internalization. After the oral taking the Mexiletine, the patient showed a favorable turn a little with her stiffness of muscles. So we authors are reporting one case of Becker's type congenital myotonia with review of literatures.

• Asian Pacific Journal of Cancer Prevention
• /
• v.14 no.12
• /
• pp.7555-7560
• /
• 2013

Background: Beedi rollers are exposed to unburnt tobacco dust through cutaneous and pharyngeal route and it is extremely harmful to the body since it is carcinogenic in nature and can cause cancer during long exposure. This indicates that occupational exposure to tobacco imposes considerable genotoxicity among beedi workers. Materials and Methods: In the present study, 27 beedi workers and age and sex matched controls were enrolled for clinical, cytogenetics and molecular analysis. Clinical features were recorded. The workers were in the age group of 28-67 years and were workers exposure from 8-60 years. Blood samples were collected from workers and control subjects and lymphocyte cultures were carried out by using standard technique, slides were prepared and 50 metaphases were scored for each sample to find the chromosomal abnormalities. For molecular analysis the genomic DNA was extracted from peripheral blood, to screen the variations in gene, the exon 1 of CYP1A1 gene was amplified by polymerase chain reaction (PCR) and then screened with Single Strand Conformation Polymorphism (SSCP) analysis. Results: A statistically significant increase was observed in the frequencies of chromosomal aberrations in exposed groups when compared to the respective controls and variations observed in Exon 1 of CYP1A1(Cytochrome P450, family 1, subfamily A, polypeptide 1) gene. Conclusions: This study shows that, the toxicants present in the beedi that enter into human body causes disturbance to normal state and behavior of the chromosomes which results in reshuffling of hereditary material causing chromosomal aberrations and genomic variations.

• Journal of Haehwa Medicine
• /
• v.14 no.2
• /
• pp.113-126
• /
• 2005

Atopic dermatitis(AD) is a chronic disease that affects the skin. "Atopic" refers to a group of diseases where there is often an inherited tendency to develop other allergic conditions, such as asthma and hay fever. In AD, symptoms vary from person to person. The most common symptoms are dry, itchy skin and rashes on the face, inside the elbows and behind the knees, and on the hands and feet. Although AD may occur at any age, it most often begins in infancy and childhood. The cause of AD is not known, but the disease seems to result from a combination of hereditary and environmental factors along with malfunction of the body's immune system. In contrast to that, the results from literatual study in oriental medicine are as follows; 1. The causes of AD are considered to be Mosusigisadok(母受時氣毒), Waegampoongsubyeol(外感風濕熱), Guasiksinlayeolmul(過食辛辣熱物), Ohbokonje(誤服溫劑). 2. The symptoms are fever, flushed face, red eyes, oliguria, constipation and itching. 3. Chungyeolhaedok(淸熱解毒) would be the basic method of treatment, and it divides into two categories; Subhyung(濕型) and Gunhyung(乾型). In Subhyung(濕型), AD is treated by Josub(燥濕), Chungyeol(淸熱) and Jiyang(止痒) whereas Chungyeol(淸熱), Jiyang(止痒), Jesub(除濕) in Gunhyung(乾型). 4. To prevent further damage and enhance quality of life, it is necessary to keep the temperature and humidity favorable, and healing the skin and keeping it healthy are important. Developing and sticking with a daily skin care routine is critical to preventing flares. Changing the diet and psychological stability may also be helpful to relieve symptoms of AD.

• Korean Journal of Oriental Medicine
• /
• v.15 no.1
• /
• pp.1-11
• /
• 2009

The eminent brother doctors Cho-Gaek Hur (Young Hur) and Cho-Sam Hur (Eon Hur) represent the medical tradition of the southeastern region of Mt. Jirisan incluiding Sancheong. This study investigated and examined their herediatary testimonies and medico-historical facts described in the literature tale, genealogy and family collection of works. At an early age after their family run away to the southern region from the harm of political struggle, they gave up taking the highest-level state examination to recruit ranking officials and set their heart on learning medicine. Their choice of medicine was the second best plan for the survival of their family and descendents from the influence of their ancestors who suffered from the party strife during the late Joseon Dynasty. The case is a good example of the deliberate action of the nobility intellectuals since the late Goryeo and early Joseon dynasties to who made attempts to have the minimum elegance and cause while securing livelihood after they have been collapsed politically. The tale of Cho-Gaek and Cho-Sam is a typical story of eminent doctors which combined reality and fiction about the persons who had outstanding medical skills. In the tale, the elder brother was good at herbal prescriptions and the younger brother was good at acupuncture, contrasting the treatment of administrative internal medicine and insertive acupuncture treatment. It shows that the prepositions for the choice of the treatment method for the public during that period were safety and fast efficacy. In their old age, they wrote a book titled Jinyangsinbang. Another Jinwoosinbang is estimated as a different kind of copy, which was a medical writing from experience that derived from the same original book as Jinyangsinbang. written by Cho-Gaek Hur and it is a valuable medical material that possesses the distinct features of the local medicine during the late Joseon Dynasty. Most of the contents are variations in application using the basis of Dongeuibogam, forming the roots of the traditional Korean medicine in Sancheong region together with the medical activities of the Hur brothers.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.15 no.2
• /
• pp.93-97
• /
• 2015

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is an autosomal recessive hereditary metabolic disorder of mitochondrial fatty acid beta-oxidation. Mutations in the ACADS gene cause short-chain acyl-CoA dehydrogenase deficiency, which is characterized by developmental delay, hypotonia, seizure, and hypoglycemia. Here, we describe one Korean pediatric case of SCAD deficiency, which was diagnosed during newborn screening by tandem mass spectrometry and confirmed by molecular analysis. The level of C4 was typically elevated 5.23 mg/dL (reference range <1.5 mg/dL). This patient had a homozygous mutation [c.1031A>G, p. E344G] in ACADS. Therefore, we present a case of SCAD deficiency in an otherwise healthy neonate and her subsequent development and growth over four years.

• Asian Pacific Journal of Cancer Prevention
• /
• v.15 no.5
• /
• pp.2141-2144
• /
• 2014

Background: Gastric cancer is the second most common cause of cancer death. It has a poor prognosis with only 5-10% of hereditary etiology. If it is diagnosed, it could be helpful for screening the other susceptible members of a family for preventive procedures. Usually it is identified by symptoms such as presence of cancer in different members of family, some special type of pathology such as diffused adenocarcinoma, having younger age and multiple cancer syndromes. Hence, designing a registry program can be a more practical way to screen high risk families for a preventive program. Materials and Methods: Based on the inclusion criteria, a questionnaire was prepared. After pilot on a small number of patients, the actual data was collected from 197 patients and processed in SPSS 16.0. Results: Totally, 11.8% of the patients were younger than 45 years old. Blood type 'A' was dominant and males had a higher risk behavior with higher consumption of unhealthy food. Adenocarcinoma was reported in majority of cases. 21.8% of the patients had the including criteria for familial gastric cancer (FGC). Conclusions: The high percentage of FGC population compared to the other studies have revealed a need to design an infrastructural diagnostic protocol and screening program for patients with FGC, plus preventive program for family members at risk which could be done by a precise survey related to frequency and founder mutations of FGC in a national registry program.

• Asian Pacific Journal of Cancer Prevention
• /
• v.17 no.7
• /
• pp.3623-3626
• /
• 2016

Breast cancer is very common and the leading cause of cancer deaths among women globally. Hereditary cases account for 5-10% of the total burden and CHEK2, which plays crucial role in response to DNA damage to promote cell cycle arrest and repair or induce apoptosis, is considered as a moderate penetrance breast cancer risk gene. Our objective in the current study was to analyze mutations in related to breast cancer. A total of 271 individuals including breast cancer patients and normal subjects were enrolled and all 14 exons of CHEK2 were amplified and sequenced. The majority of the patients (>95%) were affected with invasive ductal carcinoma (IDC), 52.1% were diagnosed with grade III tumors and 56.2% and 27.5% with advanced 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, both novel and not reported elsewhere.