Factor XI deficiency (also called Hemophilia C) rarely occurs among ethnicities other than Ashkenazi Jews. A boy was scheduled for frontoethmoidectomy due to bilateral chronic rhinosinusitis. He was incidentally found to have factor XI deficiency due to prolonged aPTT on preoperative laboratory finding. His medical history reveals frequent epistaxis 2 or 3 times per day and his factor XI and XII activity were 17% (normal; 60-140%) and 34% (normal; 60-140%), respectively on furthermore laboratory evaluation. He was diagnosed as hereditary factor XI deficiency. He underwent the operation with administration of the fresh frozen plasma without complication.
Epistaxis ; Factor XI ; Factor XI Deficiency ; Hemophilia A ; Humans ; Jews ; Plasma

BACKGROUND: The DYT1 dystonia is primary torsion dystonia (PTD) caused by a GAG deletion in DYT1 gene on chromosome 9 and transmits as autosomal dominant trait. It usually begins as limb-onset dystonia in childhood and tends to spread to other sites and has been reported as the most common cause of early onset PTD in Ashkenazi Jews. However, the frequency of DYT1 mutation in Korean patients with sporadic PTD has not been reported. METHODS: We examined dystonia patients who visited the Neurologic Clinic of Asan Medical Center between Jan 2001 and March 2002. The sporadic PTD patients of them were screened by genotyping with their peripheral blood samples. RESULTS: The 66 patients with sporadic PTD were recruited and two of them showed DYT1 mutation on Chromosome 9. One patient had segmental dystonia with cervical onset; the other had generalized dystonia with left leg onset. None of the patients with focal dystonia showed a DYT1 mutation. CONCLUSIONS: The DYT1 dystonia comprise a small portion of PTD without familial history in Korea. The DYT1 gene test should be considered in the early-onset or spreading type dystonia despite the absence of familial background in primary dystonia patient.
Chromosomes, Human, Pair 9 ; Chungcheongnam-do ; Dystonia ; Dystonia Musculorum Deformans* ; Dystonic Disorders ; Humans ; Jews ; Korea ; Leg

Factor XI deficiency is a very rare autosomal recessive coagulation factor deficiency, comprising 1/million in ethnic groups other than Ashkenazi Jews. The clinical manifestations are extremely variable, and generally milder than those of hemophilia A and B. We describe herewith 3 children with factor XI deficiency, who were found to have prolonged aPTT in routine laboratory studies, or in evaluation of intermittent epistaxis.
Blood Coagulation Factors ; Child ; Epistaxis ; Ethnic Groups ; Factor XI Deficiency* ; Factor XI* ; Hemophilia A ; Humans ; Jews

The Holy Bible, as the root of Western civilization, has imposed great influence in the fields far beyond religion. In this thesis, the author intended to reveal the medical implication in the Holy Bible and its relevance to the modern medical science by exploring the biblical medical information and comparing it with the current medical theory and practice. The conclusion of the exploration is surprising yet inspiring: the Holy Bible, as an ancient religious book, contains rich medical information around themes such as sexual relations, dietary guidelines, hygiene, etc., which is not at odds, but in harmony with the modern medicine.
Bible ; Circumcision, Male ; Diet ; Humanism ; Humans ; Jews ; Male ; Medicine ; Quarantine ; Sanitation ; Wine

Crustacean shellfish allergy is an important cause of food allergy and anaphylaxis in Asia. The major allergen in shellfish allergy is tropomyosin, a pan-allergen that is also found in house dust mites and cockroaches. Tropomyosins from house dust mites (HDMs) have a high sequence homology to shellfish tropomyosins, and cross-reactivity between HDM and shrimp tropomyosins has been demonstrated. Exposure to inhaled tropomyosins from house dust mites has been postulated to be the primary sensitizer for shellfish allergy, in a reaction analogous to the oral allergy (inhalant-food) syndrome. This notion is supported by indirect data from the effects of HDM immunotherapy on shellfish allergy, and strong correlations of shellfish and HDM sensitization. HDM immunotherapy has been reported to induce both shrimp allergy in non-allergic patients and shrimp tolerance in shrimp-allergic patients. Epidemiological surveys have also demonstrated a strong correlation between shellfish and HDM sensitization in both hospital-based and community-based studies. Unexposed populations have also been shown to develop sensitization-shellfish sensitization in orthodox Jews with no history of shellfish consumption was associated with HDM sensitization. Reciprocally, HDM sensitization in an Icelandic population living in a HDM-free environment was associated with shrimp sensitization. In vitro IgE inhibition studies on sera in shrimp-allergic Spanish patients indicate that mites are the primary sensitizer in shrimp-allergic patients living in humid and warm climates. Current data supports the hypothesis that tropomyosin is the link between HDM and shellfish allergies. The role of tropomyosin in HDM and shellfish allergies is a fertile field for investigation as it may provide novel immunotherapeutic strategies for shellfish allergy.
Anaphylaxis ; Asia ; Climate ; Cockroaches ; Dust* ; Food Hypersensitivity ; Humans ; Hypersensitivity ; Iceland ; Immunoglobulin E ; Immunotherapy ; Jews ; Mites ; Pyroglyphidae* ; Sequence Homology ; Shellfish* ; Tropomyosin*

Gaucher's disease is an uncommon metabolic disorder, which was first described by Gaucher in 1882, characterized by accumulation of distinctive Gaucher's cells in the reticuloendothelial system such as spleen, liver, and bone marrow. The great majority of cases have been reported in Jews, and others in negros and orientals. We are presenting two cases in homozygous twins in Korea, whose clinical manifestations are hepatosplenomegaly and bone lesions due to expansion of involved bones.
African Continental Ancestry Group ; Bone Marrow ; Gaucher Disease ; Humans ; Jews ; Korea ; Liver ; Mononuclear Phagocyte System ; Spleen ; Twins

Kaposi's sarcoma is one of the important features of acquired immunodeficiency syndrome (AIDS) patients, renal transplanted patients, young African men, and elderly Ashkenazi Jews. It is well recognized as the most common malignancy asssociated with AIDS and there is also an increased incidence among patients with iatrogenic immunosuppression secondary to renal transplantation. However, a few cases of Kaposi's sarcoma in immunosuppressed patients not related to the renal trans-plantation had been reported. In this study, we present a case of Kaposi's sarcoma involving the oropharynx and the skin of a patient who was not associated with AIDS nor treated with special immunosuppressive agents for renal transplantation.
Acquired Immunodeficiency Syndrome ; Aged ; Humans ; Immunosuppression ; Immunosuppressive Agents ; Incidence ; Jews ; Kidney Transplantation ; Male ; Oropharynx* ; Sarcoma, Kaposi* ; Skin*

OBJECTIVES: Located on chromosome 10q22-q23, the human neuregulin 3 (NRG3) is suggested as a strong positional and functional candidate gene involved in the pathogenesis of schizophrenia. Several case-control studies examining the association between polymorphisms on NRG3 gene with schizophrenia and/or its traits (such as delusion) have been reported recently in cohorts of Han Chinese, Ashkenazi Jews, Australians, white Americans of Western European ancestry and Koreans. Thus, this study aimed to investigate the association of one SNP in exon 9 (rs2295933) of NRG3 gene with the risk of schizophrenia in a Korean population. METHODS: Using TaqMan assay, rs2295933 in the exon 9 of NRG3 was genotyped in 435 patients with schizophrenia as cases and 393 unrelated healthy individuals as controls. Differences in frequency distributions were analyzed using logistic regression models following various modes of genetic inheritance and controlling for age and sex as covariates. RESULTS: Subsequent analysis revealed that the frequency distribution of rs2295933 of NRG3 was not different between schizophrenia patients and healthy controls of Korean ethnicity. CONCLUSIONS: This study does not support the role of NRG3 in schizophrenia in a Korean population.
Asian Continental Ancestry Group ; Case-Control Studies ; Cohort Studies ; Exons ; Humans ; Jews ; Logistic Models ; Polymorphism, Single Nucleotide ; Schizophrenia ; Wills

Canavan disease(CD) is a rare autosomal recessive leukodystrophy caused by the deficiency of aspartoacylase and the accumulation in brain of N-acetylaspartate(NAA). CD has been reported mainly Ashkenazi Jews but also occurs in other ethnic groups. Usually it presents as early as the third month of life with megalencephaly, hypotonia later progressing to hypertonia, psychomotor and mental retardation, blindness, occasionally deafness and seizure. Diagnosis is based on the clinical feature, N-acetylaspartic aciduria, radiologic and pathologic findings. Histologically, the affected white matter shows extensive vacuolation and demyelination. There is no treatment for CD and the only prevention is through genetic counselling and prenatal diagnosis. We experienced a case of Canavan disease that was presented with hypotonia and developmental delay. Diagnosis was confirmed histologically. Radiologic findings are extensive high signal throughout the white matter on T2-weighted MRI and increased NAA peak and decreased choline peak of the white matter on MR spectroscopy.
Blindness ; Brain ; Canavan Disease* ; Choline ; Deafness ; Demyelinating Diseases ; Diagnosis ; Ethnic Groups ; Humans ; Intellectual Disability ; Jews ; Magnetic Resonance Imaging ; Magnetic Resonance Spectroscopy ; Muscle Hypotonia ; Prenatal Diagnosis ; Seizures

Portable gamma radiography for nondestructive testing with 192Ir is commonly used in various industrial fields to defect possible internal defects of metals in pipelines, tanks, bridges, ships and so forth in Korea. Compared to the numerous researches about biologic effects and potential risks of radiation, only a Jew papers were reported about radiodermatitis from occupational exposure to 192Ir. In this study, we investigated six patients with occupational radiodermatitis with developed during portable gamma radiography for nondestructive testing with 192Ir. All six patients had developed radiodermatitis on their hands and fingers. They noticed painful swelling, erythema, and bullae on their fingers or palms 1 to 2weeks after exposure. Three patients suffered from chronic fibrosis and recurrent ulcerations. We also discussed about the working situation of our patients and reviewed the literatures about the radiodermatitis from occupational exposure to 192Ir. In conclusion, we think ionizing radiation, though it is a useful tool in industry, must be carried out in accordance with radiation protection rules and regulations.
Erythema ; Fibrosis ; Fingers ; Hand ; Humans ; Jews ; Korea ; Metals ; Occupational Exposure* ; Radiation Protection ; Radiation, Ionizing ; Radiodermatitis* ; Radiography ; Ships ; Social Control, Formal ; Ulcer