• Journal of Yeungnam Medical Science
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• 제31권1호
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• pp.52-55
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• 2014

Protein S deficiency is one of the several risk factors for thrombophilia and can cause blood clotting disorders such as deep vein thrombosis and pulmonary embolism. A 54-year-old man was admitted with the complaint of dyspnea and was diagnosed with pulmonary embolism. The patient had very low level of free protein S, total protein S antigen, and protein S activity (type I protein S deficiency). In history taking, we found that his mother, 78 year old, had a history of same disease 10 years ago, and confirmed the pronounced low level of protein S. The patient's son also had very low level of protein S, however there had not been any history of pulmonary embolism yet. This case study suggests that asymptomatic persons with a family history of protein S deficiency and pulmonary embolism should be checked regularly for early detection of the disease, as protein S deficiency can be suspected.

• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.103-106
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• 2016

Bartter syndrome (BS) is an inherited renal tubular disorder characterized by low or normal blood pressure, hypokalemic metabolic alkalosis, and hyperreninemic hyperaldosteronism. Type III BS is caused by loss-of-function mutations in CLCNKB encoding basolateral ClC-Kb. The clinical phenotype of patients with CLCNKB mutations has been known to be highly variable, and cases that are difficult to categorize as type III BS or other hereditary tubulopathies, such as Gitelman syndrome, have been rarely reported. We report a case of a 10-year-old Korean boy with atypical clinical findings caused by a novel CLCNKB mutation. The boy showed intermittent muscle cramps with laboratory findings of hypokalemia, severe hypomagnesemia, and nephrocalcinosis. These findings were not fully compatible with those observed in cases of BS or Gitelman syndrome. The CLCNKB mutation analysis revealed a heterozygous c.139G>A transition in exon 13 [p.Gly(GGG)465Glu(GAG)]. This change is not a known mutation; however, the clinical findings and in silico prediction results indicated that it is the underlying cause of his presentation.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제20권1호
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• pp.61-64
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• 2017

Recurrent acute pancreatic attacks is a rare clinical condition (2-5% of all acute pancreatis) in children and is mainly idiopathic in most cases. Sometimes it may be associated with congenital anomalies, metabolic diseases or hereditary conditions. Isovaleric acidemia (IVA) is a rare autosomal recessive amino acid metabolism disorder associated with isovaleryl coenzyme A dehydrogenase deficiency presenting the clinical findings such metabolic acidosis with increased anion gap, hyperammonemia, ketonemia, hypoglycemia, "the odor of sweaty feet," abdominal pain, vomiting, feeding intolerance, shock and coma. Recurrent acute pancreatitis associated with IVA have been rarely reported. Herein; we report a child who admitted with recurrent acute pancreatic attacks and had the final diagnosis of IVA. Mutation analysis revealed a novel homozygous mutation of (p.E117K [c.349G>A]) in the IVA gene. Organic acidemias must kept in mind in the differential diagnosis of recurrent acute pancreatic attacks in children.

• 한방안이비인후피부과학회지
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• 제15권1호
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• pp.356-383
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• 2002

This study attempted to study SLE oriental-western medically. As a result, the following conclusion was drawn 1. SLE is autoimmune disease to appear systemic pathology in the connective tissue, oriental medically correspond with numbness, yangdok(陽毒), yangdokbalban(陽毒發斑), fatigue, flank pain, phlegm, chest pain, asthma and cough, edema. 2. The cause of SLE is supposed by hereditary reason, ultraviolet exposure, medication, immune functional disorder, oriental medically is supposed by congenital in suffiency, sunlight exposure, pregnancy, menstruation, over wark, mental stimulus etc. 3. The oriental mechanisms of SLE were flursh of fever, yang defiency of spleen and kidney, defiency of yin and flourishing fire, obstruction of qi and stagnancy of blood, defiency qi and yin, defiency heart and spleen, liver stasis. 4. The treatments method of SLE were cooling blood and defending yin·clear away heat and detoxification, warming kidney and descending yang·establishing spleen and flowing water, nourishing yin and cooling blood, relaxation of liver and circulatin of qi·activating blood and removing stagnant blood,activating blood and promoting meridian. 5. the highest frequent prescription of SLE was jibakjihwanghwan(地柏地黃丸), in decending order segakjihwangtanggagam(犀角地黃湯加減), jinmutanggagam(眞武湯加減), soyosangagam(逍遙散加減), saengmakyingagam(生脈飮加減), daeboyinhwangagam(大補陰丸加減), yukmijihwanghwan(六味地黃丸), woogwihwangagam(右歸丸加減), kueibitang(歸脾湯), segakjihwangtanghaphwabantanggagam(犀角地黃湯合化斑湯加減), chengwonpaedokyingagam(淸溫敗毒飮加減), youngyanggudengyin(羚羊鉤藤飮).

• Genomics & Informatics
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• 제14권3호
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• pp.70-77
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• 2016

Transposable elements are one of major sources to cause genomic instability through various mechanisms including de novo insertion, insertion-mediated genomic deletion, and recombination-associated genomic deletion. Among them is Alu element which is the most abundant element, composing ~10% of the human genome. The element emerged in the primate genome 65 million years ago and has since propagated successfully in the human and non-human primate genomes. Alu element is a non-autonomous retrotransposon and therefore retrotransposed using L1-enzyme machinery. The 'master gene' model has been generally accepted to explain Alu element amplification in primate genomes. According to the model, different subfamilies of Alu elements are created by mutations on the master gene and most Alu elements are amplified from the hyperactive master genes. Alu element is frequently involved in genomic rearrangements in the human genome due to its abundance and sequence identity between them. The genomic rearrangements caused by Alu elements could lead to genetic disorders such as hereditary disease, blood disorder, and neurological disorder. In fact, Alu elements are associated with approximately 0.1% of human genetic disorders. The first part of this review discusses mechanisms of Alu amplification and diversity among different Alu subfamilies. The second part discusses the particular role of Alu elements in generating genomic rearrangements as well as human genetic disorders.

• Clinical and Experimental Reproductive Medicine
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• 제26권1호
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• pp.123-126
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• 1999

A successful outcome of pregnancy requires an efficient uteroplacental vascular system. Since this system may be compromised by disorders of haemostasis associated with a prothrombotic state, maternal thrombophilia might be a risk factor for fetal loss. Hereditary deficiencies of the naturally occuring anticoagulants are well recognized conditions predisposing to recurrent venous thromboembolism. Since thrombotic phenomena have been implied as a cause of abortion and stillbirth, these deficiencies might increase the risk of fetal demise. We have experienced a case of antiphospholipid syndrome associated with protein C deficiency in patient with recurrent spontaneous abortion. So we report this case with a brief review of literatures.

• 한방안이비인후피부과학회지
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• 제14권2호
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• pp.35-38
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• 2001

Dermatitis herpetiformis (DH) is a chronic disease of the skin marked by groups of watery, itch blisters. It is characterized by urticarial plaques and blisters on the elbows, buttocks, and knees, although other sites may also be involved. The ingestion of gluten (the proteins gliadin and prolamin contained in wheat, rye, oats, and barley) triggers an immune system reponse that deposits a substance, IgA (immonuglobin A), under the top layer of skin. IgA is present in affected as well as unaffected skin. DH is a hereditary autoimmune disease linked with celiac disease. Treatment for DH is twofold. (1) Remove the cause: gluten. (2) Suppress the skin response with drugs such as Dapsone or some other sulphones. The latter is the most common treatment used as it is rapidly relieves the itch. However there are some side effects associated with these medications and they need to be taken under medical monitoring with blood tests to detect side effects. Recently, we experienced a DH and that was successfully treated by the herbal medication and external therapy. The medications taken by the patient were yongdamsagantanggami and external therapy were gosam and gumunhwa. So we report this case with a bief review of the oriental medical and medical literatures.

• 한방안이비인후피부과학회지
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• 제12권1호
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• pp.241-253
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• 1999

The results of the study about comparison of Eastern-Western medicine on the Atopic dermatitis were as follows. 1. Atopic dermatitis is chronic eczematous dermatosis which have severe itching, characteristic eruption, easily occur region and pass on chronic relapsing progress and have family history of Atopic disease and hereditary disposition. 2. Atopic dermatitis assume an remarkable clinical aspect and it's diagnosis depends on family history and clinical symptom. 3. In all cases of Western medical treatment is nothing but a symptomatic treatment because can not find out certainly the cause of Atopic dermatitis. 4. Atopic dermatitis is belong to the category of the 'Naesun(내癬)', 'Taeryumchang(胎斂瘡)', 'Samanpoong(四灣風)' etc. in Oriental medicine. 5. The etiology and pathogenesis of Atopic dermatitis in oriental medicine are congenital defect(稟賦不足), internal accumulation of damp and heat(濕熱內鬱), improper diet(飮食不節), exogenous pathogenic factors(外邪侵襲), etc.. 6. The treatments of Atopic dermatitis in oriental medicine are thought effective clear up heat and remove dampness with febrifugal arld diuretic drug(淸熱利濕), invigorate the spleen to resolve dampness(健脾燥濕), nourish Um and blood to relave dryness(滋陰養血潤燥), etc..

• Journal of Genetic Medicine
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• 제16권1호
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• pp.23-26
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• 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
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• 제50권10호
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• pp.931-937
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• 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.