Goltz syndrome is known as a rare mesoectodermal hereditary disease, characterized by focal dermal atrophies with hernias of adipose tissue and also associated with a multitude of possible skeletal, dental, ophthalmological and other abnormalities. We experienced a case of Goltz syndrome. An one day old female newborn had focal atrophic and telangiectatic skin lesions, microphthalmia, syndactyly and urinary tract abnormality. The finding of skin biopsy was consistent with focal dermal hypoplasia. We report the case with a brief review and related literatures.
Adipose Tissue ; Atrophy ; Biopsy ; Female ; Focal Dermal Hypoplasia* ; Genetic Diseases, Inborn ; Hernia ; Humans ; Infant, Newborn ; Microphthalmos ; Skin ; Syndactyly ; Urinary Tract

We herein report a case of intractable epilepsy that occurred in a 7-year-old girl, which is consistent with radiological and clinicopathological hallmarks of Rasmussen's encephalitis. The patient showed characteristic primary unilateral involvement with secondary bilateral propagation. Microscopically, the cortical atrophy due to neuronal loss, intense GFAP-immunoreactive astrogliosis, neuronophagia, perivascular lymphocytic infiltration and microglial nodules was seen throughout the cortex and white matter. No viral inclusions were noted; no cytomegalovirus, herpes simplex virus or Epstein-Barr virus was found by in situ hybridization. Granular immunofluorescence for C4, C1q and IgG within the blood vessel walls was noted, and ultrastructurally, only nonspecific vascular injury was found. Rasmussen's encephalitis is a diagnosis of exclusion; it can be diagnosed by the combination of clinical manifestation, neuroimaging and characteristic pathologic features.
Atrophy ; Blood Vessels ; Child ; Cytomegalovirus ; Diagnosis ; Encephalitis* ; Epilepsy ; Female ; Fluorescent Antibody Technique ; Herpesvirus 4, Human ; Humans ; Immunoglobulin G ; Immunohistochemistry ; In Situ Hybridization ; Microscopy, Electron ; Neuroimaging ; Neurons ; Simplexvirus ; Vascular System Injuries

BACKGROUND: The correlation between microsatellite instability (MSI) and the prognosis of patients with endometrial carcinomas is controversial. The endometrial carcinomas in the young adult group usually have an excellent prognosis, and these tumors might have a different frequency of MSI compared with those in old women. Further, the pathogenetic mechanisms of the two groups might be different. We investigated the frequency of MSI in the endometrial cancers of patients who were under the age of 40 and we correlated the frequency with other prognostic factors. METHODS: MSI analyses were performed using 5 primers (BAT25, BAT26, D2S123, D5S346 and D17S250) and with using the genomic DNA obtained from the paraffin embedded tumor and the paired normal tissues. RESULTS: All 23 cases we examined exhibited endometrioid adenocarcinomas, and most of them were of the low international federation of gynecologists and obstetricians (FIGO) stage (stage I: 22, IIB: 1); 78% were microsatellite stable and 22% were MSI-low; an abnormal peak was present at only one marker, and any case of MSI-high was not identified. The FIGO stages of the 5 MSI-low cases were variable. CONCLUSIONS: The frequency of MSI in the endometrial cancers of young patients is not significantly different from the frequencies reported for all age groups in the previous studies, MSI-low does not seem to be related to the other poor prognostic parameters, although the number of cases we studied is insufficient to draw any firm conclusion.
Adult ; Male ; Female ; Humans ; Adenocarcinoma

The primary rhabdomyosarcoma of the brain is very rare. There are only 14 cases reported in the literatures till 1975, and the majority of them were arised in the cerebellum. The intracranial rhabdomyosarcomas may be originated from the multipotent mesenchymal cells of aberrent muscle tissue in the leptomeninges. The histological 3 types are adult pleomorphic, alveolar and embryonal type. The demonstration of cross-striation is confirmed for diagnosis of this tumor. All of these tumors tend to have a short clinical course, but the survival time seems to be slightly improved by surgical excision followed by radiotherapy. We have recently experienced one case of primary rhabdomyosarcoma in the left cerebellopontine angle of 9 year-old girl, which was confirmed by operation and complete autopsy.
Adult ; Autopsy ; Brain ; Cerebellopontine Angle ; Cerebellum ; Child ; Diagnosis ; Female ; Humans ; Radiotherapy ; Rhabdomyosarcoma*

We aimed to review whether pretreatment inflammatory markers reflect the short- and long-term outcomes of patients with colon cancer, rectal cancer, colon and rectal cancers, and metastatic colorectal cancer (CRC). We found that pretreatment complete blood count and blood chemistry tests reflect short-term and long-term oncological outcomes in patients with CRC. Specifically, in patients with colon cancer, hypoalbuminemia was associated with worse postoperative morbidity, mortality, and inferior survival. In patients with rectal cancer, elevated neutrophil-lymphocyte ratio (NLR) and thrombocytosis were associated with postoperative complications, poor overall survival (OS), and disease-free survival (DFS). A high C-reactive protein/albumin ratio (CAR) was associated with poor OS and DFS. In patients with metastatic CRC, increased NLR and platelet-lymphocyte ratio (PLR) were associated with poor OS, DFS, and progression-free survival (PFS). In addition, high CAR and a low albumin/globulin ratio on blood chemistry tests were associated with poor OS and PFS. Although universal cut-off values were not available, various types of pretreatment laboratory markers could be utilized as adjuncts to predict prognosis in patients with CRC.

Background: Jeju island had the seventh highest incidence rate of coronavirus disease 2019 (COVID-19) but showed the lowest case fatality rate among 17 provinces of Korea, which may be associated with comorbidities and geographic differences. This study aimed to analyze the epidemiological and clinical characteristics of patients with COVID-19 and evaluate the risk factors for severe COVID-19 in Jeju island, Korea. Materials and Methods: All patients with COVID-19 admitted between February 20, 2020, and June 19, 2021, at a single center were retrospectively enrolled in this study. The severity of illness was defined using five categories (asymptomatic, mild, moderate, severe, and critical) according to the National Institute of Health criteria. Then, patients with severe and critical illness were grouped into a severe group, whereas patients with asymptomatic, mild, and moderate illness were grouped into a non-severe group. Multivariate logistic regression analysis was performed using risk factors that were found to be significantly associated with the severe group. Results: This study included 348 patients with a median age was 57 years, and 37.5% were aged 60 or older. Among them, 43.4% were male and 10.9% were asymptomatic, whereas 41.4%, 33.9%, 12.9%, and 1.1% had mild, moderate, severe, and critical illness. The all-cause mortality of patients with COVID-19 was 0.28% (1/348). Among confirmed patients with COVID-19, exposure to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) was mainly within Jeju island (75.9%). The mean body mass index was 24.09 ± 4.04 kg/m 2 , the median comorbidity index score was low in each group (0 in asymptomatic; 1 in mild; 1 in moderate; 1 in severe; and 2 in critical group, P <0.548). In the multivariable analysis, male sex [odds ratio (OR), 6.37; 95% confidence interval (CI), 2.69 – 15.13; P <0.001], ≥65 years of age (OR, 2.68; 95% CI, 1.18 – 6.10; P <0.019), chronic pulmonary disease (OR, 6.10; 95% CI, 1.40 – 26.61; P = 0.016), and length of fever duration (OR, 1.33; 95% CI, 1.19 – 1.49; P <0.001) were independently associated with severe COVID-19. Conclusion The most relevant risk factors of COVID-19 severity were male sex, older age, underlying chronic lung diseases, and duration of fever during hospitalization. The risk factors for severe COVID-19 were not significantly different from those reported in other studies. However, a lower proportion of the older population among confirmed SARS-CoV-2 cases might contribute to the lower fatality rate than the national rate.

Infection of hepatic cyst is a serious complication of autosomal dominant polycystic kidney disease (ADPKD). Early diagnosis of infected cyst is crucial and usually requires conventional modalities, including ultrasound and computed tomography. However, their contribution is limited because of nonspecific results. We report a case of hepatic cyst infection for which 18F-fluorodeoxyglucose positron emission tomography-computed tomography (18F-FDG PET-CT) scan allowed the exact localization of the infected cyst and the precise drainage procedure. A 48-year-old woman with ADPKD presented with fever and RUQ pain. Contrast enhanced computed tomography did not show any evidence of complicated or infected cysts in both kidneys and liver. Though she had been treated by antibiotics for 7 days, patient's symptoms were not improved. However, 18F-FDG PET-CT scan revealed infected cyst in the left lobe of liver exactly. After percutaneous drainage based on 18F-FDG PET-CT imaging, the hepatic cyst infection was controlled. Therefore, 18F-FDG PET-CT imaging could be a valuable tool to identify the exact localization of cyst infection, which may contribute to drain the infected cyst. We report this case with a brief review of relevant literature.
Anti-Bacterial Agents ; Drainage ; Early Diagnosis ; Electrons ; Female ; Fever ; Fluorodeoxyglucose F18 ; Humans ; Kidney ; Liver ; Middle Aged ; Polycystic Kidney Diseases ; Polycystic Kidney, Autosomal Dominant ; Positron-Emission Tomography

A case of a 37 year-old man of congenital diabetes insipidus is reported. He complained of polydipsia, which began from his youth, drinking about 10 L of water every day. He didn't look ill or mentally retarded. In his family, his only brother has shown similar symptoms and his older sister had no symptom. On radiologic study, both kidneys showed severe hydronephrosis and the bladder was markedly distended. Water deprivation test was performed. The result was consistent with diabetes insipidus and the urine osmolality didn't respond to antidiuretic hormone injection, and he was diagnosed as nephrogenic diabetes insipidus. We began to treat him with thiazide and amiloride. The amount of water he's been drinking daily has decreased to 3-4 L per day. We discuss this case with a brief review of literature.
Adolescent ; Adult ; Amiloride ; Diabetes Insipidus ; Diabetes Insipidus, Nephrogenic* ; Drinking ; Humans ; Hydronephrosis ; Kidney ; Mentally Disabled Persons ; Osmolar Concentration ; Polydipsia ; Siblings ; Urinary Bladder ; Water ; Water Deprivation

BACKGROUND/AIMS: Neutrophil to lymphocyte ratio (NLR) in peripheral blood is a useful systemic inflammatory response biomarker. However, NLR has not been studied in patients with chronic obstructive pulmonary disease (COPD). This study was aimed to evaluate the usefulness of NLR in patients with COPD. METHODS: NLR was prospectively measured and compared in patients with COPD exacerbation (n = 59), patients with stable COPD (n = 61), and healthy controls (n = 28). NLR in patients with COPD exacerbation was repeatedly measured in the convalescent period. The correlation between NLR and clinical parameters was evaluated, and the predictors for respiratory hospitalization were analyzed by multivariate logistic regression. RESULTS: NLR values were significantly higher in patients with COPD exacerbation compared with stable COPD patients and controls (12.4 ± 10.6, 2.4 ± 0.7, 1.4 ± 0.5, respectively; p < 0.001). NLR was significantly decreased during the convalescent period in patients with COPD exacerbation (4.5 ± 4.6 vs. 11.5 ± 8.8, p < 0.001). NLR exhibited a significant correlation with the body mass index, degree of airway obstruction, dyspnea, and exercise capacity (BODE) index, the 6-minute walk test, and the modified Medical Research Council scale. NLR ≥ 2.8 was an independent predictor with a borderline significance for respiratory hospitalization (odds ratio, 2.083; p = 0.079). Body mass index and forced expiratory volume in 1 second were independent predictors for respiratory hospitalization. CONCLUSIONS: NLR is a straightforward and effective biomarker of COPD exacerbation that may serve as a predictor for respiratory hospitalization in patients with COPD.
Airway Obstruction ; Body Mass Index ; Dyspnea ; Forced Expiratory Volume ; Hospitalization ; Humans ; Logistic Models ; Lymphocytes* ; Neutrophils* ; Observational Study* ; Prospective Studies* ; Pulmonary Disease, Chronic Obstructive*

BACKGROUND: Diabetic nephropathy has long been known as most common culprit of ESRD. In NIDDM, histopathologically intrarenal hemodynamic changes are nonspecific, frequently with global glomerulosclerosis, interstitial fibrosis, tubular atrophy and severe arterosclerosis. Duplex renal Doppler sonography is useful in the noninvasive assessment of intrarenal hemodynamic change and Doppler indices reflect increased renal vascular resistance. So we compared the values of R.I. and P.I., in NIDDM patients, with several clinical parameters to identify that R.I. and P.I. values can reflect increased renal vascular resistance and predict diabetic nephropathy as early markers. METHODS: Renal Doppler US scan was performed on 40 patients with NIDDM to obtain Doppler signals from arcuate artery or interlobar artery and thereby calculate the R.I. and P.I. From every each individual, clinical and laboratory data including age, sex, morbidity period, BMI, mean blood pressure, total cholesterol, serum creatinine, BUN, HbA1c, 24 hr urine protein and creatinine clearance were analyzed. We analyzed the correlation between values of R.I. and P.I. with clinical parameters by using univariate and multiple linear regression analysis. The patients were classified as three groups on the basis of the amount of 24 hour urine protein and value of serum creatinine : Group 1(n=15) was defined as patients with 24 hr urine protein less than 150mg/day and serum creatinine less than 1.5mg/ dL, group 2(n=12) as between 150mg/day and 500mg/ day and serum creatinine less than 1.5mg/dL and group 3(n=13) as more than 500mg/day or serum creatinine above 1.5mg/dL. RESULTS: 1) R.I. values showed correlation with age, morbidity period, mean blood pressure, HbA1c, serum creatinine, BUN, creatinine clearance and 24 hour urine total protein. P.I. values showed correlation with age, morbidity period, mean blood pressure, serum creatinine, BUN, creatinine clearance and 24 hour urine total protein. 2) R.I. and P.I. values were significantly affected by creatinine clearance and age in multiple regression analysis. 3) There were statistically positive correlation between 24 hour urine protein and R.I. and P.I.. But when we divided into three groups based on their amount of 24 hour urine protein. R.I. didn't show statistical correlation but P.I. showed significant correlation in the group of patients with proteinuria over 500mg/day(p<0.05). CONCLUSION: Renal doppler indices reflect increased renal vascular resistance in NIDDM patients and correlate with clinical parameters of diabetic nephropathy. We suggest that the R.I. and P.I. are useful marker for indicating diabetic vascular complication in NIDDM patients. However, further comparative studies should be carried out to elucidate the usefulness of R.I. and P.I. as early markers or advantaging parameters in predicting diabetic nephropathy.
Arteries ; Atrophy ; Blood Pressure ; Cholesterol ; Creatinine ; Diabetes Mellitus, Type 2 ; Diabetic Angiopathies ; Diabetic Nephropathies* ; Fibrosis ; Hemodynamics ; Humans ; Kidney Failure, Chronic ; Linear Models ; Proteinuria ; Vascular Resistance