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

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

No abstract available.

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

The purpose of this study was to evaluate the effects of rheumatoid arthritis (RA) and antirheumatic drugs on atherosclerosis by comparing carotid intima-media thickness (CIMT) as an indicator for cardiovascular diseases (CVD). This study included 44 female RA patients who met the 2010 ACR/EULAR criteria and age-matched 22 healthy females. CIMT was measured on both carotid arteries using a B-mode ultrasound scan. The mean value of both sides was taken as the CIMT of the subject. The CIMT was evaluated according to the use of drugs, disease activity and CVD risk factors in RA patients as a case-control study. Higher CIMT was observed in RA patients as compared with healthy subjects (0.705 +/- 0.198 mm, 0.611 +/- 0.093 mm, respectively, P < 0.05). With adjustment for the CVD risk factors, disease activity and the use of anti-rheumatic drugs, methotrexate (MTX) only showed a favorable effect on CIMT in RA. A significantly lower CIMT was observed in RA with MTX as compared with RA without MTX (0.644 +/- 0.136 mm, 0.767 +/- 0.233 mm, respectively, P < 0.05). The effects were correlated with MTX dosage (beta = -0.029, P < 0.01). The use of MTX should be considered in high priority not only to control arthritis but also to reduce the RA-related CVD risk to mortality.
Adult ; Aged ; Aged, 80 and over ; Antirheumatic Agents/therapeutic use ; Arthritis, Rheumatoid/diagnosis/*drug therapy/*epidemiology ; Carotid Artery Diseases/*drug therapy/*epidemiology/ultrasonography ; *Carotid Intima-Media Thickness ; Causality ; Comorbidity ; Female ; Humans ; Incidence ; Male ; Methotrexate/*therapeutic use ; Middle Aged ; Reproducibility of Results ; Republic of Korea/epidemiology ; Risk Factors ; Sensitivity and Specificity

PURPOSE: The aim of this study was to evaluate the efficacy of a combination therapy with PDE5 inhibitor and testosterone replacement therapy in erectile dysfunction patients with testosterone deficiency syndrome (TDS) after failure of PDE5 inhibitor mono-therapy. MATERIALS AND METHODS: From March 2004 to July 2008, we evaluated 38 men (aged 38 to 69 years) who showed no response to PDE5 inhibitor therapy at the maximal recommended dose and they had testosterone levels less than 350ng/dL. Testosterone replacement therapy (TRT) was subsequently started with injectable testosterone undecanoate (NEBIDO(R)) or transdermal testosterone (Testogel(R)) in those patients. They received TRT during an 18-week period. After 14 weeks of TRT alone, PDE5 inhibitor was added to the TRT for an additional 4 weeks. After treatment, we evaluated the patients' sexual function, which was primarily based on the International Index of Erectile Function (IIEF), and the serum testosterone levels. RESULTS: All patients showed elevated serum testosterone levels after TRT (range: 212 to 662ng/dl, mean level: 362.19 ng/dl). At week 18, almost all of the men reported improved potency with combination therapy. After treatment, the mean total IIEF score and each sub-domain score were increased significantly compared to the baseline score. CONCLUSIONS: Testosterone replacement therapy combined with PDE5 inhibitor may be beneficial in improving the erectile function in testosterone deficiency syndrome patients with erectile dysfunction and who are unresponsive to PDE5 inhibitor alone.
Erectile Dysfunction ; Humans ; Hypogonadism ; Male ; Testosterone

BACKGROUND: To analyze clinical outcomes after anatomical reconstruction of distal radioulnar ligaments in patients with chronic post-traumatic instability of the distal radioulnar joint. METHODS: Anatomical reconstruction was performed in 16 patients with subluxation or dynamic instability of distal radioulnar joint following trauma. Osteotomy was performed simultaneously in 10 patients with radial malunion. The average follow-up period was 18.9 months. For clinical outcome assessment, we performed the anteroposterior stress test, measured the range of motion and grip strength, and performed radiological examination. For assessment of the pain and function, we used the Patient Rated Wrist Evaluation, the Disabilities of the Arm, Shoulder and Hand, and the Modified Mayo Wrist Score. RESULTS: Anteroposterior stress test performed at the last follow-up showed normal in 12 patients, mild laxity in 3, and residual subluxation in one. The average Patient Rated Wrist Evaluation was 9.1 for pain and 11.2 for function. The average Disabilities of the Arm, Shoulder and Hand score was 10.5. The average Modified Mayo Wrist Score was 92.8; there were 10 excellent, 5 good, and 1 poor case. The average grip strength improved from 69.7 1b to 80.9 1b. A revision osteotomy was performed on the patient with residual subluxation in order to obtain normal alignment of the joint. CONCLUSIONS: Anatomical reconstruction of the distal radioulnar ligaments is recommended to restore distal radioulnar joint stability. In addition to ligament reconstruction, realignment of the distal radioulnar joint seems critical when the instability is combined with malunion of the radius.
Adolescent ; Adult ; Female ; Hand Strength ; Humans ; Joint Instability/*surgery ; Ligaments, Articular/*surgery ; Male ; Middle Aged ; Osteotomy/methods ; Pain Measurement ; Radius/surgery ; Range of Motion, Articular ; Treatment Outcome ; Ulna/surgery ; Wrist Injuries/*surgery ; Wrist Joint/*surgery ; Young Adult