Drash syndrome, which was first reported by Denys et al. in 1967 is a complex disorder which associates a nephropathy, Wilms' tumor, and male pseudohermaphroditism. The common denominator is a nephropathy. The nephropathy may be associated with either genital abnormalities or Wilms' tumor, and these associations are called incomplete form of Drash syndrome. This syndrome appears early in life and the first sign usually is genital ambiguity. The nephropathy presents with proteinuria, hematuria and hypertension, and eventually progresses to end stage renal failure. Renal biopsy may reveal a variety of glomerular and interstitial changes. Wilms' tumor may appear as s mass on ultrasound or it may not be recognized until nephrectomy or even autopsy. We report on a boy with nephropathy and genital abnormalities. A nephrotic syndrome with hypertension was present when first seen at 15 days of age. The karyotype was 46, XY and external genitalia was ambiguous. The nephrotic syndrome and signs of renal insufficiency persisted and he died at the age of 40 days. Histopathologic findings of kidney at autopsy revealed those of diffuse mesangial sclerosis. The case was presented with brief review of literatures.
46, XY Disorders of Sex Development ; Autopsy ; Biopsy ; Denys-Drash Syndrome* ; Disorders of Sex Development ; Genitalia ; Hematuria ; Humans ; Hypertension ; Karyotype ; Kidney ; Male ; Nephrectomy ; Nephrotic Syndrome ; Proteinuria ; Renal Insufficiency ; Sclerosis ; Ultrasonography ; Wilms Tumor

To increase both iron and enhancers for iron absorption through diets should be a basic strategy to sufficiently provide increased iron for pregnancy. Previous studies reported that iron intakes of Korean pregnant women were short and their iron status deteriorated as pregnancy progressed. However, there is little data about the bioavailability of dietary iron during pregnancy. Therefore, this study was conducted to determine the changes of dietary iron intakes, its bioa-vailability and iron status during pregnancy longitudinally in Korean women. A total of 151 pregnant women in their first trimester of pregnancy voluntarily participated. Among them, 72 women finished the research protocol during the second trimester and 55 did it during the third trimester. Dietary intakes of total iron, both non-heme and heme iron, as well as enhancers, both MPF (meat, poulty, and fish) and vitamin C, increased significantly as pregnancy progressed. As the results, bioavailability of dietary iron and iron absorbed increased significantly as pregnancy progressed. However, the amount of iron absorbed at each trimester did not meet considerably the iron needed during pregnancy. All five indices examined in the study, Hb level, Hct, serum concentrations of ferritin and sTfR (soluble transferrin receptor), and sTfR:ferritin ratio, showed that iron status of the subjects deteriorated as pregnancy progressed. The rate of anemia of the subjects increased as pregnancy progressed although more than 80% of the subjects took iron supplements after the 20th week of pregnancy. These results imply that it is needed to provide more iron especially, heme iron and dietary enhancers to prevent the deterioration of iron status during pregnancy. Future research on bioavaila-blility of supplemental iron should be performed to determine the iron balance precisely.
Absorption ; Anemia ; Ascorbic Acid ; Biological Availability* ; Diet ; Female ; Ferritins ; Heme ; Humans ; Iron* ; Iron, Dietary* ; Pregnancy Trimester, First ; Pregnancy Trimester, Second ; Pregnancy Trimester, Third ; Pregnancy* ; Pregnant Women ; Transferrin

PURPOSE: To evaluate the ultrasonographic and CT findings of hepatosplenic tuberculosis MATERIALS AND METHODS: We retrospectively reviewed the ultrasonographic and CT findings of confirmed hepatosplenic tuberculosis in 12patients. Six were men and six were women ; their average age was 41, and most were in their twenties. Lesions ofthe liver and spleen, as well as associated findings such as abdominal tuberculosis and other organ involvement oftuberculosis were analyzed. RESULTS: There were three cases of hepatic tuberculosis, seven of splenictuberculosis, and two of hepatosplenic involvement of tuberculosis. On the basis of the ultrasonographic and CTfindings, hepatosplenic tuberculosis was classified as one of two patterns : miliary or micronodular, ormacronodular. The micronodular type was more common (9/12 cases) being characterized by innumerable micronodules,and with easy coalescence in the liver and spleen in five of the nine cases. The macronodular type of low densitymass was noted in the other three patients. Splenomegaly was noted in 12 cases and hepatomegaly in ten. Pulmonarytuberculosis-including the miliary type(n=5)-was noted in eight patients. Associated abdominal tuberculosis suchas lymphadenopathy with central low density and peripheral rim enhancement (n=6), tuberculous peritonitis(n=3),highly attenuated ascites(n=6), adrenal tuberculosis(n=1), renal tuberculosis(n=1), ovarian abscess(n=1), psoasabscess(n=1), and systemic tuberculosis such as central nervous system tuberculoma(n=2), cervicallymphadenopathy(n=4) and tuberculous spondylitis(n=1) were noted. CONCLUSION: Ultrasonography and CT werevaluable in the detection and diagnosis of hepatosplenic tuberculosis
Central Nervous System ; Diagnosis ; Female ; Hepatomegaly ; Humans ; Liver ; Lymphatic Diseases ; Male ; Retrospective Studies ; Spleen ; Splenomegaly ; Tuberculosis* ; Tuberculosis, Gastrointestinal ; Tuberculosis, Hepatic ; Ultrasonography

Hodgkin's disease primarily involves the lymphoreticular system with characteristic tumor cells and infiltration of reactive lymphocytes, eosinophils and plasma cells. The present study investigates the incidence of the disease by subtypes and by geographic differences, its clinicopathologic features and properties of the tumor cells. Fifty-eight cases were retrospectively reviewed, and the results were as follows; 1) Histopathologic classification by the Rye modification were; lymphocyte predominance(LP) 4 cases, nodular sclerosis (NS) 12 cases, mixed cellularity (MC) 26 cases and lymphocyte depletion(LD) 16 cases 2) The geographic difference in the distribution of subtypes of Hodgkin's disease between the Seoul and Wonju areas was noted and in Seoul, the ratio of NS was higher than in Wonju, and the ratio of LD was higher in Wonju than in Seoul 3) Age distribution was between 6 and 7O years with a mean age of 37 years. The peak incidence was seen between the 3rd and 5th decades. The male to female ratio was 2.9:1 with 43 male patients and 15 female 4) Utilizing the Ann Arbor staging method, 75-87.5% of LP, MC and NS were classified as stage I or II and 81.3% of LD were stage III or IV 5) The initial biopsy sites most commonly seen were in the peripheral lymph nodes (54 cases) and one case each in the mediastinal lymph node, thymus, tonsil and stomach 6) The most frequent initial chief complaint was a palpable mass (60.3%), other complaints included fever, cough, dyspnea, anorexia general weakness and hematemesis 7) Among 58 cases, 32 cases were studied using an immunoperoxidase stain. The Reed-Stemberg (R-S) cells and/or Hodgkin's cells were positive for Kappa and Lambda light chains, simultaneously. One case was positive for lysozyme and all were negative for S-100 protein. For the (C)u-antichymotrypsin, 13 cases exhibited a positive reaction. These findings suggest that R-S cells might be the histiocytic origin.
Adolescent ; Adult ; Aged ; Biopsy ; Child ; Female ; Histiocytes/pathology ; Hodgkin Disease/*pathology ; Human ; Immunoenzyme Techniques ; Lymph Nodes/pathology ; Male ; Middle Age ; Neoplasm Staging ; Support, Non-U.S. Gov't

No abstract available.
Nephritis, Hereditary*

BACKGROUND: It is known that magnesium can inhibit platelet function in vitro and ADP-induced platelet activation. We wished to demonstrate if magnesium could inhibit activation of platelets preserved at cold temperature. METHODS: We incubated each mixture of platelets and various concentrations of magnesium sulfate (0~10 mM) at room temperature and at a cold temperature (4oC). On days 1, 3, 5, 7 and 9, we measured the platelet count, pH, LD level, glucose level, HCO3?? level, lactate level, expression of CD62P, expression of annexin V, and ADP-induced aggregation of platelets. RESULTS: The platelets stored at 4oC showed a similar LD level but a lower platelet count, lactate level, and expression of CD62P and annexin V, and a higher pH and glucose level than platelets stored at room temperature. With an increasing magnesium concentration, expression of CD62P in the platelets stored at 4oC was slightly decreased, but expression of annexin V was increased. ADP-induced aggregation of the platelets stored at 4oC was not affected by magnesium. CONCLUSION: Magnesium did not effectively inhibit activation of platelets during preservation at cold temperature (4oC).
Annexin A5 ; Blood Platelets ; Cold Temperature* ; Glucose ; Hydrogen-Ion Concentration ; Lactic Acid ; Magnesium Sulfate* ; Magnesium* ; Platelet Activation ; Platelet Count

Toxocariasis has a broad clinical spectrum, from asymptomatic to systemic illness. However, cerebral toxocariasis has rarely been reported. We experienced a patient who presented with seizure and memory disturbance after treatment for visceral larva migrans of toxocariasis. Laboratory findings included eosinophilia, cerebrospinal fluid (CSF) pleocytosis, and positive results for toxocariasis in the serum and CSF. The patient showed marked improvement after combined albendazole and steroid treatment. This case indicates that cerebral toxocariasis is an unusual cause of cognitive dysfunction and seizure.
Albendazole ; Eosinophilia ; Humans ; Larva Migrans, Visceral ; Leukocytosis ; Memory ; Seizures ; Toxocariasis

BACKGROUND: Right ventricular apical (RVA) pacing induces left ventricular (LV) dyssynchrony, increases the risk of persistent atrial fibrillation in the long term. The aim was to investigate the effects of RVA pacing on left atrial (LA) function, which are unknown. METHODS: Echocardiographic evaluation including LV dyssynchrony based on conventional Doppler, tissue Doppler imaging and speckle tracking strain echocardiography was done before and after (12 months) single-chamber ventricular pacemaker implantation in 40 patients with sick sinus syndrome. Patients were divided to 2 groups, according to the RVA pacing frequency (group I had higher pacing rate of more than 50% and group II, less than 50%). RESULTS: There was no significant difference in LV ejection fraction, however, mean global LV strain, myocardial performance index, and parameters of LV dyssynchrony had shown significant changes after 12 months of RVA pacing. There were also significant increase in the LA volume index and the reduction of peak systolic LA strain and strain rate (SR), peak early and late diastolic SR after RVA pacing. Moreover, there was significant deterioration of LV dyssynchrony and both LA and LV longitudinal function in even group II. LA functional deterioration and LA volume was significantly correlated with the frequency of RVA pacing. CONCLUSION: LV dyssynchrony, induced by RVA pacing, significantly impaired active LA contraction and passive stretching, and these findings were shown in the patients with even less than 50% of RVA pacing. Impairment of LA strain/SR was significantly correlated with the frequency of RVA pacing.
Atrial Fibrillation ; Atrial Function ; Atrial Function, Left ; Contracts ; Echocardiography ; Humans ; Muscle Stretching Exercises ; Sick Sinus Syndrome ; Sprains and Strains ; Track and Field

BACKGROUND: Right ventricular apical (RVA) pacing induces left ventricular (LV) dyssynchrony, increases the risk of persistent atrial fibrillation in the long term. The aim was to investigate the effects of RVA pacing on left atrial (LA) function, which are unknown. METHODS: Echocardiographic evaluation including LV dyssynchrony based on conventional Doppler, tissue Doppler imaging and speckle tracking strain echocardiography was done before and after (12 months) single-chamber ventricular pacemaker implantation in 40 patients with sick sinus syndrome. Patients were divided to 2 groups, according to the RVA pacing frequency (group I had higher pacing rate of more than 50% and group II, less than 50%). RESULTS: There was no significant difference in LV ejection fraction, however, mean global LV strain, myocardial performance index, and parameters of LV dyssynchrony had shown significant changes after 12 months of RVA pacing. There were also significant increase in the LA volume index and the reduction of peak systolic LA strain and strain rate (SR), peak early and late diastolic SR after RVA pacing. Moreover, there was significant deterioration of LV dyssynchrony and both LA and LV longitudinal function in even group II. LA functional deterioration and LA volume was significantly correlated with the frequency of RVA pacing. CONCLUSION: LV dyssynchrony, induced by RVA pacing, significantly impaired active LA contraction and passive stretching, and these findings were shown in the patients with even less than 50% of RVA pacing. Impairment of LA strain/SR was significantly correlated with the frequency of RVA pacing.
Atrial Fibrillation ; Atrial Function ; Atrial Function, Left ; Contracts ; Echocardiography ; Humans ; Muscle Stretching Exercises ; Sick Sinus Syndrome ; Sprains and Strains ; Track and Field

The Bis protein is known to be involved in a variety of cellular processes including apoptosis, migration, autophagy as well as protein quality control. Bis expression is induced in response to a number of types of stress, such as heat shock or a proteasome inhibitor via the activation of heat shock factor (HSF)1. We report herein that Bis expression is increased at the transcriptional level in HK-2 kidney tubular cells and A172 glioma cells by exposure to oxidative stress such as H2O2 treatment and oxygen-glucose deprivation, respectively. The pretreatment of HK-2 cells with N-acetyl cysteine, suppressed Bis induction. Furthermore, HSF1 silencing attenuated Bis expression that was induced by H2O2, accompaniedby increase in reactive oxygen species (ROS) accumulation. Using a series of deletion constructs of the bis gene promoter, two putative heat shock elements located in the proximal region of the bis gene promoter were found to be essential for the constitutive expression is as well as the inducible expression of Bis. Taken together, our results indicate that oxidative stress induces Bis expression at the transcriptional levels via activation of HSF1, which might confer an expansion of antioxidant capacity against pro-oxidant milieu. However, the possible role of the other cis-element in the induction of Bis remains to be determined.
Apoptosis ; Autophagy ; Cysteine ; Glioma ; Hot Temperature ; Kidney ; Oxidative Stress* ; Proteasome Inhibitors ; Quality Control ; Reactive Oxygen Species ; Shock