No abstract available.
Aneurysm* ; Humans ; Hydrocephalus*

No abstract available.

Wiskott-Aldrich syndrome (WAS) is an inherited X-linked disorder. The WAS gene is located on the X chromosome and undergoes mutations, which affect various domains of the WAS protein, resulting in recurrent infection, eczema, and thrombocytopenia. However, the clinical features and severity of the disease vary according to the type of mutations in the WAS gene. Here, we describe the case of a 4-year-old boy with a history of marked thrombocytopenia since birth, who presented with recurrent herpes simplex infection and late onset of eczema. Examination of his family history revealed that older brother, who died from intracranial hemorrhage, had chronic idiopathic thrombocytopenia. Therefore, we proceeded with genetic analysis and found a new deletion mutation in the WAS gene: c.858delC (p.ser287Leufs*21) as a hemizygous form.
Eczema ; Herpes Simplex ; Humans ; Intracranial Hemorrhages ; Methylmethacrylates ; Parturition ; Polystyrenes ; Sequence Deletion ; Siblings ; Thrombocytopenia ; Wiskott-Aldrich Syndrome ; X Chromosome

Mediastinal fibrosis is pathologically characterized by chronic inflammation and fibrosis of mediastinal soft tissue. Mediastinal fibrosis is local expression of a family of systemic fibrosing syndroms. This can result in compression of adjacent mediastinal structures. Idiopathic fibrosing syndromes include retroperitoneal fibrosis, sclerosing cholangitis of the orbit and fibrosis of the thyroid gland(Riedel's struma). The cause of these disorders is obscure, in some instance there is an underlying malignancy, infection, history of drug ingestion, or trauma with retoperitoneal bleeding. Treatment of mediastinal fibrosis depends on structures involved by the fibrotic process. The disease is self limited in most case or improved by steroids uses. We experienced a case of idopathic solerosing mediastinitis with orbital fibrous dysplasia of unknown cause, which was confirmed by open lung biopsy, so reported it with a review of literature.
Biopsy ; Cholangitis, Sclerosing ; Eating ; Fibrosis* ; Hemorrhage ; Humans ; Inflammation ; Lung ; Mediastinitis ; Orbit ; Retroperitoneal Fibrosis ; Steroids ; Thyroid Gland

Myositis caused by mumps virus is very rare. Mumps virus has been suggested as a causative agent of inclusion body myositis, but there has been no definite evidence. We experienced a case of severe myositis associated with mumps virus infection. A 21-year old man was admitted because of myalgia, headache, fever, and chill for 2 months. The cerebrospinal fluid analysis performed at a local clinic showed findings compatible with viral meningitis. His blood chemistry results revealed elevated levels of serum creatine kinase, lactate dehydrogenase, and serum myoglobin. On the 5th day of admission, the patient showed pain and swelling of parotid gland and scrotum. Electromyography was compatible with inflammatory myopathy. Muscle biopsy of his calf muscle revealed necrotizing (leukocytoclastic) vasculitis and multifocal myolysis with multinucleation. We suspected mumps virus infection because of his symptoms of meningitis, epididymo-orchitis and parotitis. Mumps virus was isolated in throat culture. The past medical history of the patient's mumps virus vaccination was unclear. After 2 weeks of supportive treatment, the patient's condition was improved.
Biopsy ; Cerebrospinal Fluid ; Chemistry ; Creatine Kinase ; Electromyography ; Fever ; Headache ; Humans ; L-Lactate Dehydrogenase ; Meningitis ; Meningitis, Viral ; Mumps virus* ; Mumps* ; Myalgia ; Myoglobin ; Myositis* ; Myositis, Inclusion Body ; Parotid Gland ; Parotitis ; Pharynx ; Scrotum ; Vaccination ; Vasculitis ; Young Adult

The indolent nature and favorable outcomes associated with papillary thyroid microcarcinoma have prompted numerous prospective studies on active surveillance (AS) and its adoption as an alternative to immediate surgery in managing low-risk thyroid cancer. This article reviews the current status of AS, as outlined in various international practice guidelines. AS is typically recommended for tumors that measure 1 cm or less in diameter and do not exhibit aggressive subtypes on cytology, extrathyroidal extension, lymph node metastasis, or distant metastasis. To determine the most appropriate candidates for AS, factors such as tumor size, location, multiplicity, and ultrasound findings are considered, along with patient characteristics like medical condition, age, and family history. Moreover, shared decision-making, which includes patient-reported outcomes such as quality of life and cost-effectiveness, is essential. During AS, patients undergo regular ultrasound examinations to monitor for signs of disease progression, including tumor growth, extrathyroidal extension, or lymph node metastasis. In conclusion, while AS is a feasible and reliable approach for managing lowrisk thyroid cancer, it requires careful patient selection, effective communication for shared decision-making, standardized follow-up protocols, and a clear definition of disease progression.

OBJECTIVES: To evaluate the association of urinary 2-naphthol level and air pollution caused by exposure to smoking, traffic and residential factors. METHODS: The study subjects consisted of 300 university students in Incheon. The questionnaires concerning subject characteristics, smoking amount, traffic, distance between housing and main road, heating and cooking fuel including urinary cotinine levels were checked. RESULTS: There was not any significant association between urinary 2-naphthol level and age, sex, body mass index, distance from mainroad, traffic, heating and cooking fuel. The urinary 2-naphthol level was higher in smokers or high urinary cotinine level group(p=0.0001)than in nonsmokers or low urinary cotinine group. After adjusting for age, sex, and body mass index in the basic model, the 2-naphthol level was also higher in the smokers or high urinary cotinine level group, too(p<0.0005). The model included both traffic and residential variables and it had a good fitness as compared to other models. CONCLUSIONS: It has been known that as one of PAH metabolites, urinary 2-naphthol is a respiration-selective biological marker. We showed that tabacco smoking has a much stronger effects on urinary 2-naphthol levels than when subjects were exposed to air pollution, such as traffic, and other residential factors at the same time.
Air Pollution ; Biological Markers ; Body Mass Index ; Cooking ; Cotinine ; Heating ; Hot Temperature ; Housing ; Humans ; Incheon ; Questionnaires ; Smoke* ; Smoking*

PURPOSE: To investigate whether allelic polymorphism of haptoglobin (Hp) is associated with premature rupture of membrane (PROM), the Hp phenotypes of pregnant women with PROM were analyzed. PATIENTS AND METHODS: The Hp phenotypes of 221 pregnant Korean women (187 control and 34 PROM patients) were determined by benzidine/hydrogen peroxide staining, following native polyacrylamide gel electrophoresis of hemoglobin-mixed sera. The Hp allele frequencies were calculated from the data of Hp phenotypes, and overall association with PROM was evaluated using Pearson Chi-Square test. RESULTS: The polymorphic distribution of the patients cohort who underwent a normal delivery (control group) was similar to that of healthy Koreans. In contrast, however, patients with PROM showed significantly higher occurrence of the Hp 1-1 phenotype than control group (23.5% vs 8.0%). Hp 2-2 phenotype was lower in PROM cohort (38.2%) than in the control group (48.7%). The Hp1 allele frequency in PROM group was significantly higher than that in the control group (0.426 vs 0.297, p = 0.034) with odds ratio of 1.762 (95% CI: 1.038 - 2.991). CONCLUSION: These findings suggest that pregnant Korean women who possess Hp1 allele (expressed as Hp 1-1 phenotype) have higher incidence of PROM than women with Hp2 allele (expressed as Hp 2-2 phenotype). This is the first study that evaluated the significance of Hp polymorphism with respect to the development of PROM.
Adult ; Asian Continental Ancestry Group/*statistics & numerical data ; Female ; Fetal Membranes, Premature Rupture/*ethnology/*genetics ; Gene Frequency ; Genetic Predisposition to Disease/ethnology ; Haptoglobins/*genetics ; Humans ; Incidence ; Infant, Newborn ; Korea/epidemiology ; Phenotype ; *Polymorphism, Genetic ; Pregnancy

Malaria is one of the most common infectious diseases in the world. Plasmodium falciparum accounting for nearly all malaria mortality, kills an estimated 1 to 2 million persons yearly and has several features thai make it deadlist of malarias. While cerebral malaria is the most common presentation of severe disease, acute lung injury associated with malaria is uncommon but serious and fatal complication. We report two cases of severe malaria with ARDS and multi-organ failure. All two patients traveled to foreign countries, Kenya, Papua New Guinea where choroquine-resistant malaria is distributed. The first case, which developed cerebral malaria hypoglycemia, multi-organ failure, and ARDS, treated with quinine and mechanical ventilator, but expired due to oxygenation failure. Autopsy showed acute necrotizing infiltration, diffuse eosinophilic fibrinoid deposits along the alveolar space, and alveolar macrophage with malaria pigment The second case also developed multi-organ failure, followed by ARDS, and was treated with quinine, exchange transfusion, plasmapheresis, and mechanical ventilator. He recovered with residual restrictive lung change after treatment.
Acute Disease ; Asian Continental Ancestry Group ; Autopsy ; Communicable Diseases ; Eosinophils ; Humans ; Hypoglycemia ; Kenya ; Lung ; Lung Injury ; Macrophages, Alveolar ; Malaria* ; Malaria, Cerebral ; Mortality ; Oxygen ; Papua New Guinea ; Plasmapheresis ; Plasmodium falciparum ; Quinine ; Respiratory Distress Syndrome, Adult* ; Ventilators, Mechanical

The idiopathic hypereosinophilic syndrome is a disorder marked by the sustained overproduction of eosinophils. The disease is characterized clinically by damage to multiple organs due to eosinophilic infiltration and mediator release rather than by the level of the absolute blood eosinophil count. We report a case of hypereosinophilic syndrome presenting multiple organ damages with eyeball involvement.
Eosinophils ; Hypereosinophilic Syndrome* ; Multiple Trauma