Bart's syndrome was initially described as a genodermatosis characterized by congenital localized absence of the skin with blistering and nail deformities 1-3. However, it is considered as any type of epidermolysis bullosa(EB) with localized congenital absence of the skin on the extremities. A 33-day-old fbmale baby was presented with congenital absence of the skin over the left shin and dorsa of both feet which were covered with the thin, translucent, and brown-red glistening membranes. Blistering of the right calf and left great toe nail deformity were also noted. She was diagnosed as a recessive dystrophic EB by the histopathological, ultra- structural and immunomapping studies.
Blister ; Congenital Abnormalities ; Extremities ; Foot ; Membranes ; Skin ; Toes

The final degrees of education for the third and fourth authors were mutually misplaced.

No abstract available.
Lipomatosis*

No abstract available.
Diagnosis* ; Polycystic Kidney Diseases*

Cryosupernatant which is the residual plasma fraction after removing cryoprecipitate has been used for plasma exchange in thrombotic thrombocytopenic purpura and hemolytic uremic syndrome replacing the fresh frozen plasma. Recently, the unusually large yon Willebrand factor multireefs (ULvWFM) has been observed in patients with refractory or chronic relapsing hemolytic uremic syndrome as well as thrombotic thrombocytopenic purpura which disappeared by infusion or plasma exchange with cryosupernatant, and infusion of fresh frozen plasma, the largest multimers of yon Willebrand factor were replenished that it might be a cause of refractoriness. This study was conducted to investigate the characteristics of home-made cryosupernatant from thawed fresh frozen plasma and its thehrapeutic effect in a hemolytic uremic syndrome patient. The level of fibrinogen, coagulation factor VIII, vWF antigen, and ristocetin cofactor activity was decreased and yon Willebrand factor multimers were barely seen in cryosupernatant than those of in fresh frozen plasma. A hemolytic uremic syndrome patient tried with exchange and infusion of cryosupernatant showed excellent recovery. It is concluded that home-made cryosupernatant shares many of the features of fresh frozen plasma except factor VIII, especially von Willebrand factor multimers, and thus it could be a useful alternative to fresh frozen plasma in case of refractory hemolytic uremic synydrome.
Factor VIII ; Fibrinogen ; Hemolytic-Uremic Syndrome ; Humans ; Plasma Exchange* ; Plasma* ; Purpura, Thrombotic Thrombocytopenic ; von Willebrand Factor

To evaluate the role of capsular polysaccharide (CPS) as a virulence factor, the interaction of V. vulnificus with mouse peritoneal macrophages and serum, which are involved in the clearance of bacteria from blood and other tissues, were examined. In this study, MO6-24/0 (wild strain; hemolysin- and capsule-positive), MO6-24/I' (acapsular spontaneous mutant), CVD 752 (acapsular transposon mutant), and CVD 707 (hemolysin-negative and capsule-positive mutant) were used. The strain with CPS (MO6-24/0 and CVD 707) were more resistant to phagocytosis by mouse peritoneal macrophages compared with acapsular strains (MO6-24/T and CVD 752), and the resistance to phagocytosis was not changed by serum opsonin in the capsular strains. Acapsular strains were more susceptible to serum bactericidal activity than the capsular strains through the classical complement pathway. MO6-24/0 strain were detected in blood, spleen, liver and lung at 4 hours after intraperitoneally infection, whereas CVD 752 were not detected. All tested strains could induced the transcription of inflammatory cytokine gene such as IL-1, IL-6, IL-10 and TNF-u, and their inductions were not decreased by cytochalasin B treatment. This results demonstrate that CPS of V. vulnificus plays an important role in V. vulnificus infection through interfering nonspecific host defense system such as blood clearance and phagocytosis.
Animals ; Bacteria ; Complement Pathway, Classical ; Cytochalasin B ; Interleukin-1 ; Interleukin-10 ; Interleukin-6 ; Liver ; Lung ; Macrophages, Peritoneal ; Mice ; Phagocytosis ; Spleen ; Vibrio vulnificus* ; Vibrio* ; Virulence*

Background: American Society for Bone and Mineral Research recommend the use of intramedullary reconstruction of full length-nail for atypical subtrochanteric femoral fracture (ASFF). However, there is no study on the incidence of the ipsilateral femoral fracture after index operation of ASFF, and full-length nail has disadvantage as iatrogenic fracture and leg length discrepancy (LLD). The aim of this study was to investigate the incidence of ipsilateral secondary fracture after using partial-length nail, and to compare the outcomes on surgery of ASFF between partial length-nails and full length-nails. Methods: Forty-five consecutive fractures with ASFFs which had undergone intramedullary fixation using cephalomedullary nail between 2011 and 2018 were enrolled. The 45 cases were grouped based on nail length into the partial-length nail group (n=26) and the full-length nail group (n=19). Ipsilateral secondary fracture, time to union, intra-operative iatrogenic fracture, metal failure, LLD, operative duration, and post-operative 24-hr blood loss were investigated. Results: There was no ipsilateral secondary fracture after index operation. There were no statistically significant differences between the partial-length nail and full-length nail groups in the time to union, LLD, and post-operative 24-hr blood loss (P=0.427, 0.478, and 0.228, respectively). Operative duration showed statistically significant difference between 2 groups (P=0.034). Metal failure were occurred in 1 (3%) case of the partial-length nail group and 2 (10%) cases of the full-length nail group. Iatrogenic fractures during nail insertion occurred in 2 (7%) cases of the partial-length-nail group and 3 cases (15%) of the full-length nail group. Conclusions Although large scale studies are required, our study indicate that full-length nails are not usually required for the treatment of ASFF.

OBJECTIVE: To evaluate the effects of the reactive oxygen species (ROS) generated with a xanthine(X) and xanthine oxidase (XO) system on sperm function, the change of sperm characteristics, lipid peroxidation, and DNA fragmentation in bovine spermatozoa. MATERIALS AND METHODS: ROS were produced using a combination of 100 micrometer X and 50 mU/ml XO. The ROS scavengers: superoxide dismutase (SOD)(200mu/ml) and catalase (500mu/ml) were also tested. Spermatozoa were incubated for 2 hours in BWW medium with a combination of X-XO supplemented with or without ROS scavengers at 37degrees C under 5% CO2 incubator. Sperm movement characteristics by CASA (computer-aided sperm analysis), HOST (hypoosmotic swelling test), Ca-ionophore induced acrosome reaction, malondialdehyde formation for the analysis of lipid peroxidation, the percentage of DNA fragmentation using the method of TdT-mediated nick end labelling (TUNEL) by flow cytometry were determined after 2 hours incubation. RESULTS: The action of ROS on bovine spermatozoa resulted in a decreased in capacity for sperm motility, Ca-ionophore induced acrosome reaction and membrane integrity, an increased in malondialdehyde formation and the percentage of sperm with DNA fragmentation. In the effects of antioxidant, catalase completely alleviated the toxic effects induced by the ROS in terms of sperm function and characteristics, however SOD exhibited no capacity to reduce the toxic effects. CONCLUSION: The ROS can induce significant damages to sperm functions and characteristics. The useful ROS scavengers can minimized the defects of sperm function and various damages of spermatozoa.
Acrosome Reaction ; Catalase ; DNA Fragmentation* ; DNA* ; Flow Cytometry ; Incubators ; Lipid Peroxidation* ; Malondialdehyde ; Membranes ; Reactive Oxygen Species* ; Sperm Motility ; Spermatozoa* ; Superoxide Dismutase ; Xanthine Oxidase

OBJECTIVE: To compare the patients of chronic low back pain with and without emotional depression in terms of psychosomatic aspect and clinical outcome by cross-sectional and prospective study. METHOD: We evaluated 100 patients who were admitted due to chronic low back pain. The patients were classified into three groups (moderately depressed, mild depressed, non-depressed) by the score of Beck Depression Inventory (BDI). And three groups were compared by Pain Disability Index (PDI), Visual Analogue Scale (VAS), Pain Rating Score (PRS) and special diagnostic studies such as MRI and EMG. All subjects took the same conservative treatments for 4 weeks and then, they were re-evaluated by PDI, VAS and PRS. RESULTS: BDI score was positively correlated with VAS and PRS significantly. All groups were not different with respect to functional limitation (measured by PDI) and organic lesion (measured by MRI and EMG study). But, subjective pain (measured by VAS, PRS) were severe in depressed group. All groups showed improvement in PDI, VAS and PRS after 4 weeks of treatment. But, the amount of improvement was greater in non-depressed group. CONCLUSION: The clinician treating chronic low back pain should be familiar with depression and prepare for screening on that.
Depression* ; Humans ; Low Back Pain* ; Magnetic Resonance Imaging ; Mass Screening ; Prospective Studies

Despite improvements in dialysis care, the mortality of patients with end-stage renal disease(ESRD) remains high. One factor that has so far received little attention, but which might contribute to morbidity and mortality, is the timing of referral to the nephrologist. We performed a retrospective analysis in 358 patients(male 275, female 151) who were initiated renal replacement therapy first at this hospital from Jan 1995 to Dec 1996. Patients were defined by the time of first nephrology as early referral(E, n=163) encountered after more than 8 weeks; late early referral(LE, n=19) encountered between 8 weeks and 4 weeks; late referral(L, n=55) encountered from 1 week to 4 weeks; urgent referral(U, n= 121) encountered less than 1 week. There were no differences in age, gender, primary renal disease, cause of dialysis, and renal replacement therapy modalities. However, there were significant differences in rnean arterial pressure and serum phosphate levels between these 4 groups. The mean arterial pressures (mmHg) were 109.15 +/- 17.16, 105.37+/-18.76, 117.24 +/- 27.24 and 116.98+/-24.26 for E, LE, L and U, respectively(p<0.05, compared E to U). In the U group, serum phosphate levels were elevated at initiation of dialysis compared to the E group(6.39+/-1.72 vs 7.29 +/- 3.54mg/dL, p<0.05). One year mortality in the U group had on increased tendency compared to the E group, especially earlier mortality(7.4% vs 14.9N, p>0.05). In the E group, there was more controlled blood pressure and serum phosphate levels compared to the U group at initiation of renal replacement therapy, but other parameters were not significantly different among the 4 groups. Delays in initiation of renal replacement therapy may result in patients entering dialysis in a compromised state, therefore adequate long-term predialysis care by a nephrologist is important. Socioeconomic - and medical factors respon-sible for late referral and late initiation of dialysis need to be evaluated and corrected to further improve the outcome of these patients.
Arterial Pressure ; Blood Pressure ; Dialysis* ; Female ; Humans ; Mortality ; Nephrology ; Referral and Consultation* ; Renal Replacement Therapy ; Retrospective Studies