Osteochondrodysplasia is a heterogeneous group of disorders appearing short limbed dwarfism. Because many of these entities are lethal and hereditary, an accurate diagnosis is mandatory. The purpose of this study is to define the clinicopathologic features and radiologic findings of osteochondrodysplasia. We reviewed 29 autopsy cases of congenital short limbed dwarfism, consisting of thanatophoric dysplasia (TD) (12 cases), osteogenesis imperfecta (OI) (12 cases), asphyxiating thoracic dysplasia (ATD) (3 cases), short-rib-polydactyly syndrome (SRPS) (1 case) and hypochondrogenesis (1 case). The gestational age ranged from 16 to 41 weeks. Of 6 fetuses that were born alive, 3 were ATD, 2 were TD and 1 was hypochondrogenesis. TD was frequently complicated by hydramnios. Of 8 cases studied chromosomally, only 1 showed chromosomal abnormality -46XY, inv 9. Intrauterine growth retardation was frequently associated with OI. Pulmonary hypoplasia was present in 23 cases (79%), including all cases of ATD, SRPS and hypochondrogenesis, 11 in TD and 7 in OI. Other associated anomalies were present in 17 cases (59%).
Autopsy* ; Chromosome Aberrations ; Diagnosis ; Dwarfism ; Extremities ; Fetal Growth Retardation ; Fetus ; Gestational Age ; Osteochondrodysplasias* ; Osteogenesis Imperfecta ; Polyhydramnios ; Thanatophoric Dysplasia

No abstract available.
Wegener Granulomatosis*

No abstract available.
Common Variable Immunodeficiency* ; Cytomegalovirus Infections* ; Cytomegalovirus* ; Immune System Diseases

No abstract available.

The prevalence of autoimmune, infectious and metabolic diseases is different for men and women owing to the respective ability of their immune systems to respond to self and foreign antigens. Although several factors, including hormones and the X-chromosome, have been suggested to contribute to such sex-specific immune responses, the underlying factors remain poorly defined. Recent studies using peroxisome proliferator-activated receptor (PPAR) ligands and knockout mice have identified sex-dimorphic expression of PPARs, and have shown that the inhibitory functions of PPAR in T cells are substantially affected by the sex hormones. In this review, we consider the sex-specific differences in PPARs and summarize the diverse PPAR-mediated, sex-specific properties of effector T-cell responses, such as T-cell activation, survival and differentiation, as well as their involvement in T-cell-related autoimmune diseases, including colitis, graft-versus-host disease and experimental autoimmune encephalomyelitis. Understanding PPAR-mediated sex differences in immune responses will provide more precise insights into the roles of PPARs in effector T cells.
Animals ; Autoimmune Diseases ; Colitis ; Encephalomyelitis, Autoimmune, Experimental ; Female ; Gonadal Steroid Hormones ; Graft vs Host Disease ; Humans ; Immune System ; Ligands ; Male ; Metabolic Diseases ; Mice ; Mice, Knockout ; Peroxisome Proliferator-Activated Receptors* ; Peroxisomes ; Prevalence ; Sex Characteristics ; T-Lymphocytes

The supramalleolar osteotomy is a joint-preserving surgical procedure. It is a very good treatment option for the asymmetric varus ankle and medial compartment osteoarthritis. The primary objective of the procedure is to shift medial concentration of stress toward the lateral intact articular cartilage to redistribute the joint loads during ambulation. Several studies have shown that deformities of the ankle result in uneven load distribution in the ankle joint, which eventually leads to articular cartilage degeneration. Since the lateral articular cartilage is intact, joint-sacrificing procedures such as total ankle replacement or ankle arthrodesis are not the most appropriate treatment choices for medial compartment arthritis. Results of supramalleolar osteotomies are very promising in terms of functional outcome and pain relief. In younger patients with medial compartment varus ankle osteoarthritis or even with a normal tibial anterior surface angle, supramalleolar osteotomies can be performed to realign the ankle to promote regeneration of the asymmetrically damaged cartilage. In this review article, we will discuss the indications, complications, surgical techniques, and outcomes of the supramalleolar osteotomy reported in the current literature.

PURPOSE: This study was conducted to evaluate the clinical efficacy of pharmacologic treatment of amatoxin poisoning patients. METHODS: Literature was accessed through PubMed, EMBASE, Cochrane library, KoreaMed, KISS and KMBASE. Studies relevant to human use of pharmacologic therapy including silymarin, penicillin and N-acetylcysteine (NAC) for amanita poisoning were included. Case reports, letters, editorials and papers with insufficient information were excluded. Comparison of clinical outcomes (especially mortality and liver transplantation rate) in each study was analyzed. RESULTS: The final analysis included 13 retrospective studies. None of these studies showed direct comparisons of individual agents. Among 12 studies comparing silymarin vs penicillin, eight showed clinical superiority of silymarin. Among eight studies comparing silymarin with NAC, six showed clinical superiority of silymarin. Among seven studies of NAC vs penicillin, five showed clinical superiority of NAC. CONCLUSION: This systematic review suggested that clinical superiority of various pharmacological agents used to treat amatoxin poisoning is debatable. Nevertheless, the available evidence suggests it is reasonable to consider combinations of multiple agents for patients with amanita poisoning. Further studies are required to establish a treatment regimen for amanita poisoning.
Acetylcysteine* ; Amanita ; Humans ; Liver Transplantation ; Mortality ; Penicillins* ; Poisoning* ; Retrospective Studies ; Silymarin* ; Treatment Outcome

A 37-year-old woman was admitted to our hospital with altered mentality. The patient was diagnosed an internal carotid artery (ICA) dorsal wall aneurysm leading to acute subdural hemorrhage (SDH) without occurring subarachnoid hemorrhage and/or internal parenchymal hemorrhage. An aneurysmal neck clipping and hematoma evacuation were performed at once. A pure SDH by ruptured aneurysm is unusual, but it is important to consider it if a SDH patient has no other medical history.
Adult ; Aneurysm* ; Aneurysm, Ruptured ; Carotid Artery, Internal* ; Female ; Hematoma ; Hematoma, Subdural* ; Hemorrhage ; Humans ; Intracranial Aneurysm ; Neck ; Rupture* ; Subarachnoid Hemorrhage

A 26-year-old man visited our emergency medical center with dyspnea, and he was diagnosed with pulmonary embolism. He did not have any specific risk factor. His job was a computer programming. Pulmonary embolism is rare at such young age. Predisposing risk factors in pulmonary embolism patients include a history of venous thromboembolism, history of malignancy, complicating infections, increasing age, thrombophilia, and obesity. Prolonged seated immobility at work is another risk factor for venous thromboembolism like economy class syndrome. We report a case of pulmonary embolism in a young patient who had no risk factor.
Adult ; Dyspnea ; Emergencies ; Humans ; Immobilization ; Obesity ; Pulmonary Embolism ; Risk Factors ; Software ; Thrombophilia ; Venous Thromboembolism

The purpose of this study was to determine the prevalence and characteristics of symptomatic coronary heart disease (CHD) in patients with moyamoya disease (MMD). This retrospective study evaluated 456 patients who received examination for MMD between 1995 and 2012. We reviewed the patients' medical history and coronary imaging, including conventional coronary angiography and coronary computed tomography angiogram (CTA). Among 456 patients with MMD, 21 (4.6%) patients were found to have symptomatic CHD. Ten patients were treated with coronary artery bypass graft or percutaneous coronary intervention for unstable angina or myocardial infarction. Eleven were treated with medication for stable angina (n = 6) and variant angina with mild degree of stenosis (n = 5).The median age of these patients was 44 yr (range, 27-59). The median Framingham score at diagnosing MMD was < 1% (range, < 1%-16%). The old age was associated with CHD in uni- and multivariate analyses (P = 0.021, OR, 1.053; 95% CI, 1.008-1.110). Considering low age of onset and low stroke risk factor, CHD might be a systemic manifestation that is clinically relevant to MMD.
Adult ; Age Factors ; Aged ; Coronary Angiography ; Coronary Artery Disease/*etiology ; Female ; Humans ; Logistic Models ; Male ; Middle Aged ; Moyamoya Disease/*complications ; Retrospective Studies