Osteopetrosis or albers-Schonberg disease is extremely rare disease. It is characterized by osteoporosis, stunted growth, deformity, increased likelihood of fractures, also patients suffers anemia, recurrent infections and hepatosplenomegaly. However, we recently came upon a 14-month-old female as the 1st child of osteopetrosis with hydrocephalus and rickets. She has the typical symptoms such as nystagmus, osteosclerosis -especially in skull. Brain Magnetic Resonance Imaging (MRI), MRI shows hydrocephalus and x-ray finding are consistent with rickets. This is the first report of osteopetrosis with hydrocephalus and rickets in Korea by pediatrician.
Anemia ; Brain ; Child ; Congenital Abnormalities ; Female ; Humans ; Hydrocephalus* ; Infant ; Korea ; Magnetic Resonance Imaging ; Osteopetrosis* ; Osteoporosis ; Osteosclerosis ; Rare Diseases ; Rickets* ; Skull

To investigate the risk factors and clinical characteristics of postrenal transplant diabetes mellitus (PTDM), we reviewed the records of 177 renal allograft recipients in Maryknoll Hospiatal whose allografts had functioned longer than 6 months. Nineteen patients (10.7%) developed PTDM at 5.0+/-7.8 (1-52) months; 9 (47%) of these within 1 month. PTDM patients were older than nondiabetic renal transplants (42+/-2 vs 37+/-1 years, P<0.05). Body mass index tended to be higher in PTDM (23.5+/-1.0 vs 21.8+/-0.3kg/m2, P=0.09). Number of acute rejections (0.6+/-0.2 vs 0.5+/-0.1) and serum creatinine at 1 year after transplantation (1.2+/-0.8 vs 1.3+/-0.3mg/dL) were not different. Fasting (103.6+/-10.4 vs 84.4+/-1.6mg/dL, P<0.05) and postprandial (189.2+/-24.8 vs 118.6+/-2.3 mg/dL, P<0.01) blood sugars, measured before transplantation, were higher in PTDM. CsA blood level at 1 month posttransplantation was higher in PTDM (350+/-34 vs 279+/-8ng/mL, P<0.05). Fasting serum insulin was significantly higher (28.2+/-12.2 vs 7.3+/-2.0 microunit/dL, P<0.05) and serum C-peptide tended to be higher in PTDM patients compared with euglycemic renal recipients (6.3+/-1.6 vs 3.8+/-0.9ng/dL, P=0.08). All the PTDM patients were treated by either insulin or oral agent; 15 of 19 required no treatment after 4.7+/-6.9 months. In conclusion, prevalence of PTDM was 10.7%. PTDM patients were older. Body mass index was tended to be higher. Fasting and postprandial blood sugars, measured before transplantation, were higher in PTDM. Faslting serum insulin was higher and C-peptide tended to be higher in diabetics. These results suggested that increased insulin resistance plays a major role in the pathogenesis of PTDM.
Allografts ; Blood Glucose ; Body Mass Index ; C-Peptide ; Creatinine ; Cyclosporine ; Diabetes Mellitus* ; Fasting ; Humans ; Insulin ; Insulin Resistance ; Prevalence ; Risk Factors*

Pulmonary tumor thrombotic microangiopathy (PTTM) is a rare, malignancy-related complication that causes marked pulmonary hypertension, right heart failure, and death. We report on a patient with locally advanced breast cancer whose course was complicated by fatal PTTM based on clinical and laboratory findings.
Breast ; Breast Neoplasms ; Heart Failure ; Humans ; Hypertension, Pulmonary ; Thrombotic Microangiopathies

BACKGROUND: Thrombotic thrombocytopenic purpura/hemolytic uremic syndrome (TTP/HUS) is a disease entity defined by the presence of thrombocytopenia and microangiopathic hemolytic anemia with or without fever, neurologic and renal symptoms. Therapeutic plasma exchange (TPE) has proven to be an effective treatment for TTP/HUS and has decreased mortality. We evaluated the effectiveness of TPE for TTP/HUS at the Department of Clinical Pathology, Samsung Medical Center during the last 6 years. METHODS: We assessed retrospectively the chief complaints, the clinical course, the treatment and the outcome in 17 TTP/HUS patients treated with TPE from December 1994 to May 2001. Minimal diagnostic criteria for TTP/HUS were unexplained thrombocytopenia and microangiopathic hemolytic anemia, with or without fever, neurologic, and renal symptoms. The range of ages of the patients was 15 to 63 years and the female to male ratio was 2:1. RESULTS: The most frequent clinical presentation was a renal problem (71%), followed by fever (53%) and neurologic symptoms (24%). The causes of TTP/HUS followed in the order of frequency: idiopathic (41%), suspicious for Escherichia coli O157: H7 infection (24%), systemic lupus erythematosus (18%), mitomycin C induced (12%), and preeclampsia (6%). A total of 229 TPE procedures were performed for 17 patients (mean: 13 procedures). The replacement fluids for TPE were fresh frozen plasma (59%) and cryosupernatant (41%). Thirteen patients (76%) survived and three of them relapsed (23%); however, they responded to further treatment. In comparing the laboratory results between pre and post TPE, significant changes were found in the white blood cells and platelet counts, creatinine, total bilirubin, and lactic dehydrogenase. The initial symptoms did not indicate a recurrence rate and a variety of drugs were used, except for corticosteroid administration. CONCLUSIONS: TTP/HUS patients responded well to TPE. The overall efficacy of TPE for TTP/HUS was 76%. The causes of TTP/HUS, the administered drugs and the replacement fluid did not affect the patient's prognosis.
Anemia, Hemolytic ; Bilirubin ; Creatinine ; Escherichia coli O157 ; Female ; Fever ; Hemolytic-Uremic Syndrome ; Humans ; Leukocytes ; Lupus Erythematosus, Systemic ; Male ; Mitomycin ; Mortality ; Neurologic Manifestations ; Oxidoreductases ; Pathology, Clinical ; Plasma Exchange* ; Plasma* ; Platelet Count ; Pre-Eclampsia ; Prognosis ; Recurrence ; Retrospective Studies ; Thrombocytopenia

We have cloned a cDNA encoding a cysteine proteinase of the Acanthamoeba healyi OC-3A strain isolated from the brain of a granulomatous amoebic encephalitis patient. A DNA probe for an A. healyi cDNA library screening was amplified by PCR using degenerate oligonucleotide primers designed on the basis of conserved amino acids franking the active sites of cysteine and asparagine residues that are conserved in the eukaryotic cysteine proteinases. Cysteine proteinase gene of A. healyi (AhCP1) was composed of 330 amino acids with signal sequence, a proposed pro-domain and a predicted active site made up of the catalytic residues, Cys(25), His(159), and Asn(175). Deduced amino acid sequence analysis indicated that AhCP1 belongs to ERFNIN subfamily of C1 peptidases. By Northern blot analysis, no direct correlation was observed between AhCP1 mRNA expression and virulence of Acanthamoeba, but the gene was expressed at higher level in amoebae isolated from soil than those from clinical samples. These findings raise the possibility that Ahcp1 protein may play a role in protein metabolism and digestion of phagocytosed bacteria or host tissue debris rather than in invasion of amoebae into host tissue.
Acanthamoeba/*enzymology/genetics/pathogenicity ; Amebiasis/parasitology ; Amino Acid Sequence ; Animals ; Base Sequence ; Cathepsins/*genetics ; DNA, Protozoan/chemistry/genetics/*isolation & purification ; Encephalitis/parasitology ; Gene Expression ; Genes, Protozoan ; Humans ; Molecular Sequence Data ; Polymerase Chain Reaction ; Protozoan Proteins/chemistry/genetics/physiology ; Sequence Alignment ; Virulence

OBJECTIVES: No evidence has been found on various types of dental erosion, except for occupational dental erosion. This study aimed to evaluate the distribution of four types of dental erosion (occupational, dietary, systemic, and gastric) and its associated factors among workers in factories that use acids. METHODS: Of 89,034 workers from 4,625 factories that use acids, 716 workers from 38 factories were selected for this cross-sectional epidemiological study by using three-stage stratified cluster sampling. Evaluation for dental erosion was performed by a trained dentist by using Kim's criteria, and a saliva sample was collected directly from each participant. Data on acid sources and associated factors were collected by using questionnaires. By using a complex sample analysis, the T test and Rao-Scott chi-square test were applied to analyze the distribution of four acid factors and to evaluate the associated factors. RESULTS: The prevalence of overall dental erosion was 37.7% for occupational dental erosion, 23.1% for dietary dental erosion, 3.1% for systemic dental erosion, and 3.2% for gastric dental erosion. The prevalence of severe dental erosion was 10.5% for occupational dental erosion, 7.1% for dietary dental erosion, 1.8% for systemic dental erosion, and 1.7% for gastric dental erosion. The factors associated with dental erosion were age, sex, acid exposure, dental cervical abrasion, and dental attrition. CONCLUSIONS: Our data showed that the prevalence of dental erosion was high, moderate, and low in occupational, dietary, and gastric and systemic dental erosions, respectively, among workers exposed to acids. The related factors differed according to the types of dental erosion. Our data suggested that different types of promotion programs for dental erosion should be considered according to acid source.
Dentists ; Epidemiologic Studies ; Epidemiology ; Humans ; Prevalence ; Saliva ; Tooth Attrition

Background: Not so many reports about the association between head and neck cancer (HNC) and oral health status related to periodontitis (OHS-P) has been published in different countries with different methods. So, there is a need for an extensive meta-analysis with the total articles published until 2020. Hence, this study aimed to estimate the association between HNC and OHS-P through a meta-analysis. Methods: Based on Preferred Reporting Items for Systematic Reviews and Meta Analyses guidelines, 22 studies were selected through PubMed and Cochrane Library databases. Metaanalysis using them was performed to evaluate the association. The risk of bias assessment using the Newcastle-Ottawa Scale (NOS) was applied to evaluate the quality of nonrandomized studies. Publication bias was evaluated by funnel plot and Egger's regression test. Results: Since heterogeneity was significant (I2 = 88%, P < 0.001), we adopted the random effect model for 22 studies. Those with bad OHS-P, compared to those with good OHS-P, were more likely to have the risk of HNC by 2.4 times (odds ratio [OR], 2.42; 95% confidence interval [CI], 1.88–3.13) for random effect model. The association included publication bias (Egger's regression, P value < 0.001). The association among five studies (I2 = 39%, P = 0.16) using alveolar bone loss (ABL) or clinical attachment level (CAL) for assessing periodontitis increased to OR of 3.85 (CI, 3.04–4.88) in the fixed effect model without publication bias (Egger's regression, P = 0.66). Moreover, the association was higher in 10 fair or good NOS studies (OR, 3.08) and in 7 Asian studies (OR, 2.68), which were from the fixed model without publication bias. Conclusion Our meta-analysis showed that bad OHS-P was associated with the risk of HNC.The association was stronger in studies using ABL or CAL for assessing periodontitis.

Background: Not so many reports about the association between head and neck cancer (HNC) and oral health status related to periodontitis (OHS-P) has been published in different countries with different methods. So, there is a need for an extensive meta-analysis with the total articles published until 2020. Hence, this study aimed to estimate the association between HNC and OHS-P through a meta-analysis. Methods: Based on Preferred Reporting Items for Systematic Reviews and Meta Analyses guidelines, 22 studies were selected through PubMed and Cochrane Library databases. Metaanalysis using them was performed to evaluate the association. The risk of bias assessment using the Newcastle-Ottawa Scale (NOS) was applied to evaluate the quality of nonrandomized studies. Publication bias was evaluated by funnel plot and Egger's regression test. Results: Since heterogeneity was significant (I2 = 88%, P < 0.001), we adopted the random effect model for 22 studies. Those with bad OHS-P, compared to those with good OHS-P, were more likely to have the risk of HNC by 2.4 times (odds ratio [OR], 2.42; 95% confidence interval [CI], 1.88–3.13) for random effect model. The association included publication bias (Egger's regression, P value < 0.001). The association among five studies (I2 = 39%, P = 0.16) using alveolar bone loss (ABL) or clinical attachment level (CAL) for assessing periodontitis increased to OR of 3.85 (CI, 3.04–4.88) in the fixed effect model without publication bias (Egger's regression, P = 0.66). Moreover, the association was higher in 10 fair or good NOS studies (OR, 3.08) and in 7 Asian studies (OR, 2.68), which were from the fixed model without publication bias. Conclusion Our meta-analysis showed that bad OHS-P was associated with the risk of HNC.The association was stronger in studies using ABL or CAL for assessing periodontitis.

PURPOSE: Carotid duplex scan is a frequent option for initial carotid artery evaluation. There has been debates about accuracy of peak systolic velocity (PSV) >125 cm/s, which has been used to diagnose >50% carotid artery stenosis (CAS) in most vascular laboratories. This study is conducted to evaluate PSV >125 cm/s as a diagnostic tool for 50%> CAS. METHODS: The retrospective review was done for subjects, who had PSV >125 cm/s in carotid artery screening test in == Hospital from November 2008 to June 2011. The screening study was conducted to healthy senior volunteers to screen CAS. The subject who has PSV >125 cm/s was evaluated by carotid computed tomography (CT) scan. The clinical characteristics were surveyed. RESULTS: One hundred forty seven subjects were diagnosed with CAS using duplex scan from 1,953 subjects who underwent screening tests. Twenty eight with 33 lesions underwent carotid CT scan. There were 71% hypertension, 21% diabetes mellitus, 21% ischemic heart disease, 17% lipid disorder, and 67% smoking history. Seventeen lesions showed >50% CAS while 16 showed <50% CAS. The false positive rate was 49%. Its causes were severe tortuosity of carotid artery and extensive plaque calcification. CONCLUSION: The false positive rate of PSV >125 cm/s was 49% in this study. For diagnostic accuracy, diagnostic criteria should be established in each vascular lab.
Carotid Arteries ; Carotid Stenosis ; Diabetes Mellitus ; Hypertension ; Mass Screening ; Myocardial Ischemia ; Pyridines ; Retrospective Studies ; Smoke ; Smoking ; Thiazoles

PURPOSE: The purpose of this study is to evaluate the results of femoral artery stenting as a treatment of femoral artery occlusive disease, and to compare the primary patency and target lesion revascularization (TLR). METHODS: A retrospective review identified 38 patients who underwent femoral artery stenting from November 2008 to December 2010 in Inha University Hospital. Each lesion was classified according to the Trans-Atlantic Inter-Society Consensus II. Demographic, preoperative, intraoperative, and postoperative variables were collected. RESULTS: Forty cases of femoral artery stenting were done for 38 patients. The indications were claudication (47.4%), rest pain (13.2%), unhealed ulcer (13.2%), and toe gangrene (26.3%). The mean age and mean body mass index (BMI) were 72.50+/-8.19 years, and 23.0+/-0.05 kg/m2. There were 57.9% diabetes mellitus, 65.8% hypertension, 44.7% ischemic heart disease, 39.5% current smoker, 71.1% hyperlipidemia, 28.9% chronic renal failure (creatinine>1.5), 23.7% obesity (BMI>25), and 10.5% stroke. The mean follow-up was 12.1+/-0.03 months. There were no in-hospital mortality and 3 complications: 1 femoral artery dissection and 2 branch perforations. Six patients died and two symptomatic stent fractures were noted during the follow-up. One years' primary patency rate and TLR rate were 81.1% and 5.5%. CONCLUSION: Femoral artery stenting showed good results and can be a reasonable option. TLR can be considered as a new standard to evaluate the endovascular treatment.
Angioplasty ; Atherosclerosis ; Body Mass Index ; Consensus ; Diabetes Mellitus ; Femoral Artery ; Follow-Up Studies ; Gangrene ; Hospital Mortality ; Humans ; Hyperlipidemias ; Hypertension ; Kidney Failure, Chronic ; Myocardial Ischemia ; Obesity ; Retrospective Studies ; Stents ; Stroke ; Toes ; Ulcer