BACKGROUND: Transient elastography (TE) and acoustic radiation force impulse (ARFI)-imaging have shown promising results for the staging of liver fibrosis. AIM: The aim of the present study was to compare ARFI of the left and right liver lobe with TE using the standard and obese probes for the diagnosis of ...

Liver herniation is a rare occurrence in gastroschisis. We sought to determine the incidence and prognosis of liver herniation in patients with gastroschisis. From December 1995 to March 2010, 117 patients with gastroschisis received care by our division. Operative reports were reviewed to identify patients with liver herniation. Logistic regression ...

Fumarase deficiency (FD), caused by biallelic alteration of the Fumarase Hydratase gene (FH), and a rare metabolic disorder that affects the Krebs cycle, causes severe neurological impairment and fumaric aciduria. Less than 30 unrelated cases are known to date. In addition, heterozygous mutations of the FH gene are responsible for ...

TNFRSF13B/TACI defects have recently been associated with common variable immunodeficiency (CVID) pathogenesis. Considering that TNFRSF13B/TACI is very polymorphic and the frequency of its alterations may be different in various ethnic groups, we analyzed their prevalence in 47 Greek patients with antibody deficiencies, including CVID (16 patients), IgAD (16 patients), selective ...

Summary.  Central nervous system (CNS) bleeding is one of the most severe and debilitating manifestations occurring in patients with rare bleeding disorders (RBDs). The aim of this study was to retrospectively collect data on patients affected with RBDs who had CNS bleeding, to establish incidence of recurrence, death rate, neurological ...

Deficiency of mannose-binding lectin (MBL) has been suggested to influence duration of febrile neutropenia and prognosis in paediatric oncology patients. However, there is no consensus on the definition of MBL deficiency. In a cohort of children with cancer, we investigated (i) how to determine MBL deficiency and (ii) whether MBL ...

Coenzyme Q(10) (CoQ(10)) is an essential electron carrier in the mitochondrial respiratory chain and a strong antioxidant. Low CoQ(10) levels have been detected in patients with Fibromyalgia (FM). The purpose of the present work was to assess the effect of CoQ(10) on symptoms of five patients with FM. Patients were ...

Dopamine-β-hydroxylase (DβH) deficiency is a rare genetic syndrome characterized by the complete absence of norepinephrine in the peripheral and the central nervous system. DβH-deficient patients suffer from several physical symptoms, which can be treated successfully with L-threo-3,4-dihydroxyphenylserine, a synthetic precursor of norepinephrine. Informal clinical observations suggest that DβH-deficient patients do ...

BACKGROUND: There are limited data on the prevalence of copper and zinc deficiency in the long term after bariatric surgery. METHODS: We analysed copper and zinc serum levels in a cohort of 141 patients, 52 who underwent Roux-en-Y gastric bypass (RYGB) and 89 biliopancreatic diversion (BPD), with a follow-up of ...

OBJECTIVE: To report a case of severely prolonged succinylcholine-induced neuromuscular paralysis in a patient with previously undiagnosed butyrylcholinesterase deficiency. CASE SUMMARY: A 54-year-old female was admitted for surgical drainage of a groin abscess. She was given propofol 200 mg and succinylcholine 160 mg (1 mg/kg) intravenously to induce sedation and ...

Background  Chronic venous leg ulcers (CVU) cause considerable burden of disease for the patients as well as enormous costs for health care systems. The pathophysiology of CVU is complex and not entirely understood. So far reliable pathogenic and/or prognostic parameters have not been identified. Objectives  We studied the role of ...

Argininemia is caused by a deficiency of arginase 1, which catalyzes the final step in the urea cycle, i.e., the cytosolic hydrolysis of arginine to ornithine and urea. In contrast to other urea cycle disorders, hyperammonemic encephalopathy is rarely observed in patients with argininemia. Rather, most exhibit an insidious onset ...

INTRODUCTION: cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disease caused by a deficiency of mitochondrial enzyme sterol 27-hydrolylase. Such a deficiency results in a reduced production of chenodeoxycholic acid and in an increased formation of cholestanol. It is clinically characterized by cataracts, diarrhoea, xanthomas, premature arteriosclerosis and a number of ...

Myoclonic epilepsy with ragged red fibers (MERRF) is a mitochondrial disease that is characterized by myoclonic epilepsy with ragged red fibers (RRF) in muscle biopsies. The aim of this study was to analyze Brazilian patients with MERRF. Six patients with MERRF were studied and correlations between clinical findings, laboratory data, ...

The clinical significance of ADAMTS13 activity for response to treatment, mortality rate, recurrence, and prognosis is unclear. Therefore, we investigated the characteristics of severe ADAMTS13 deficiency and evaluated its prognostic features in Thrombotic thrombocytopenic purpura (TTP). The Korean TTP Registry includes 66 patients from 13 teaching hospitals in Korea who ...

Galactokinase deficiency (GALK-D), an autosomal recessive disorder in the Leloir pathway, results in accumulation of galactose, galactitol, and galactonate and leads to early onset of juvenile bilateral cataract. Highest incidence of GALK-D is found in Romani populations. The migration wave due to the Yugoslavian civil war has changed the spectrum ...

In this study, copper, zinc, magnesium, manganese, selenium, and iron of urine and hair were measured in the patients with tuberculous (TB) pleurisy (n = 24) and in the control group (n = 20). Selenium, magnesium, and zinc of hair were found to be significantly lower in TB pleurisy cases than those in the ...

We measured the levels of some biological metals: copper (Cu), iron (Fe), magnesium (Mg), manganese (Mn), and zinc (Zn) in the cerebrospinal fluid (CSF) in patients with neurodegenerative diseases (52 patients with amyotrophic lateral sclerosis (ALS)), 21 patients with Alzheimer's disease (AD), and 20 patients with Parkinson's disease (PD) by ...

To compare odor identification function in patients with peripheral or central autonomic neurodegeneration and in patients with intact autonomic neurons but undetectable norepinephrine. Olfactory function was evaluated with the University of Pennsylvania Smell Identification Test (UPSIT) in 12 patients with pure autonomic failure, 10 patients with multiple system atrophy, and ...

The aim of the study was to evaluate zinc levels in three biological compartments (serum, erythrocytes and hair) in patients with rheumatoid arthritis (RA) as compared to healthy individuals. Zinc levels in serum, erythrocytes and hair (in 74 patients with RA and 30 healthy individuals) were assessed by atomic absorption ...

Oxidative stress is involved in the pathogenesis of congestive heart failure (CHF). Some trace elements serve as antioxidant defenses. The purpose of this study was to analyze the effect of atrial fibrillation (AF) on zinc (Zn) and copper (Cu) levels in patients with advanced CHF. In this prospective study, serum ...

Trace element disturbance is often observed in hemodialysis patients. While trace element concentrations have been reported in blood samples from hemodialysis patients, they have not been well investigated in scalp hair. In the present study, 22 trace elemental concentrations were measured by inductively coupled plasma-atomic emission spectrometry in the scalp ...

We present the case of a 64-year-old Pakistani man with right atrial myxoma, recently diagnosed with acquired severe factor VII (FVII) deficiency. The patient presented with a history of chronic hiccups and weight loss. Initial evaluation revealed an isolated prolonged prothrombin time, severely reduced FVII activity level, and a giant ...

Background. Zinc mediates several vital physiological, enzymatic and cellular functions. The association between serum zinc and stroke outcome has not been previously evaluated. Methods. This single center retrospective study was conducted on consecutive stroke (n = 158) and TIA (n = 74) patients. We sought to determine whether serum zinc ...

Aim: We aimed to assess relevance of mineral, trace element and heavy metal levels in patients with malignant gliomas. Methods: In this study, erythrocyte catalase (CAT), and carbonic anhydrase (CA), serum copper (Cu.), zinc (Zn), lead (Pb), iron (Fe), cadmium (Cd), cobalt (Co), manganese (Mn), and magnesium (Mg) levels were ...

Vitamin D deficiency has received increased academic interest because of its association with many common disease processes. The goal of our study was to document the prevalence of vitamin D deficiency. A retrospective chart review of 25-hydroxyvitamin D (ng/mL) levels at the University of Tennessee Health Science Center was conducted ...

Decreased levels of 25 hydroxyvitamin D (25[OH]D) have been reported in patients with chronic kidney disease (CKD). The pleiotropic effects of vitamin D are known to go beyond mineral metabolism. The aims of this study were to: 1) Determine the 25(OH)D levels in predialysis outpatients. 2) Find out the clinical ...

Abstract Background. Patients treated with valproic acid (VPA) present a high incidence of non-alcoholic fatty liver disease (NAFLD) (around 61%). Several recent studies suggest that low copper stores could be associated with NAFLD, and a significant decrease of copper availability in VPA-treated patients has been described. Design and methods. In ...

Citrin deficiency, aetiologically linked to mutations of SLC25A13 gene, has two clinical phenotypes, namely adult-onset type II citrullinaemia (CTLN2) and neonatal/infantile intrahepatic cholestasis, caused by citrin deficiency (NICCD). Malaysian patients with NICCD, especially of Malay and East Malaysian indigenous descent, have never been reported in the literature. We present the ...

We report a patient with biotinidase deficiency with peculiar findings on her MRI brain. Subcortical cysts combined with Dandy Walker cyst on the brain MRI have never been reported. There are many documented case reports of biotinidase deficiency and several of them have included findings on neuroimaging. Subcortical cysts have ...

Patients with positive fecal occult blood test and unrevealing colonoscopy are often advised to undergo esophago-gastro-duodenoscopy (EGD) to exclude a bleeding source in the upper gastrointestinal tract. In this study, we evaluated EGD findings in patients with positive immunochemical fecal occult blood test (I-FOBT) not explained by colonoscopy. Out of ...

Argininosuccinic aciduria is an inborn error of the urea cycle caused by deficiency of argininosuccinate lyase (ASL). ASL-deficient patients present with progressive intoxication due to accumulation of ammonia in the body. Early diagnosis and treatment of hyperammonemia are necessary to improve survival and prevent long-term handicap. Two clinical phenotypes have ...

Patients with inflammatory bowel disease (IBD) are at risk of osteoporosis. Vitamin D (vitD) deficiency is known as a risk factor of osteoporosis. We observed low vitD blood levels in adult IBD patients both at the end of summer and winter. Furthermore, effects of oral vitD supplementation in (generally low) ...

Severity of chronic obstructive pulmonary disease (COPD) exacerbation is associated with increased level of copper (Cu), zinc (Zn), and lipid peroxidation (malodialdehyde, MDA). The aim of this study was to investigate the levels of lipid peroxidation, Coenzyme Q10 (CoQ10), Zn, and Cu in the COPD exacerbations. Forty-five patients with COPD ...

Childhood immune thrombocytopenia (ITP) is a bleeding disorder characterized by decreased platelet counts. Assessment of the individual bleeding risk during the course of the disease would allow more accurately guiding treatment-related decisions in these patients. We conducted a pilot study and prospectively evaluated platelet counts and bleeding signs using an ...

We present herein a case of a young female with congenital combined coagulation factor VII (FVII) and factor II (FII) deficiencies. She was completely asymptomatic and found to have a prolonged prothrombin time during a routine preoperative evaluation. Low levels of plasma FVII and FII in the absence of an ...

To study the management and outcome of children with extrahepatic portal vein obstruction (EHPVO) in a whole country population. A nationwide multicenter retrospective case series of children with EHPVO was conducted. Data on demographics, radiographic studies, laboratory workup, endoscopic and surgical procedures, growth and development, were extracted from the patients' ...

Pemphigus vulgaris (PV) is an autoimmune disease involving the skin and mucous membranes. The frequency of upper airway tract (UAT) and upper gastrointestinal tract (UGIT) involvement in PV is not clearly known. Our aim was to determine the incidence of UAT and UGIT involvement in patients with PV. Thirty-seven patients ...

Bleeding from oesophageal varices is still a lethal complication in cirrhotic patients with portal hypertension. Approximately 5-10% of patients with cirrhosis will develop oesophageal varices per year, and about 25-30% of cirrhotic patients with oesophageal varices and without previous variceal haemorrhage will bleed from ruptured varices. To date, data on ...

The aim of this study was to evaluate the diagnostic and therapeutic outcome of a primary balloon-assisted enteroscopy (BAE) approach in obscure gastrointestinal bleeding (OGIB) patients. In the diagnostic approach of OGIB, both wireless capsule endoscopy (WCE) and BAE are used. The advantage of the primary wireless capsule endoscopy approach ...

Agnogenic myeloid metaplasia (AMM) is a clonal stem cell disease, which is characterized by myelofibrosis, osteosclerosis and pancytopenia. Affected patients frequently develop portal hypertension secondary to extramedullary hematopoiesis, which rarely becomes clinically relevant. We here report on a 63-year-old patient with a first presentation of variceal bleeding. The patient was ...

To assess patients with chronic portal vein thrombosis (PVT) with respect to transcapsular collateral veins, the communication between these veins and ectopic varices, and the cause of PVT. This study was approved by the institutional review committees, and written informed consent was obtained. From November 2003 to March 2008, 145 ...

Acquired factor VIII deficiency is very rare, often fatal. It is associated with pregnancy, autoimmune diseases, malignancy, and drugs, although no underlying cause is found in 50%. A 49-year-old male was referred with right shoulder bruising. The coagulation test showed a prolonged activated partial thromboplastin time. The factor VIII level ...

PURPOSE: Mesenteric embolization is an established treatment for lower gastrointestinal bleeding. The aim of this study was to determine the outcome of angiography and embolization and its influencing factors. METHODS: A prospective database of all mesenteric angiograms performed for lower gastrointestinal bleeding at a tertiary center between 1998 and 2008 ...

We have evaluated the efficacy of methotrexate-based bilateral uterine arterial chemoembolization for treating cesarean scar pregnancy (CSP) in 52 women between January 2005 and December 2009. Ten patients experienced massive vaginal hemorrhage after a misdiagnosis and subsequent curettage. Bleeding in these patients was reduced after chemoembolization. Dilation and curettage was ...

The definition of failure to control bleeding agreed upon at the Baveno IV consensus meeting, included the Adjusted Blood Requirement Index [ABRI: number of blood units/(final-initial hematocrit+0.01)]. ABRI ≥0.75 denotes failure. However, timing for hematocrit measurements was not defined. The aims of this study were: (1) to assess the Baveno ...

To evaluate the feasibility and efficacy of Transjugular intrahepatic portosystemic shunt (TIPS) in non-cirrhotic patients with symptomatic portal hypertension secondary to portal cavernoma. Our cohort includes 13 consecutive patients. Eleven were considered for Transjugular intrahepatic portosystemic shunt placement for complications not manageable by medical/endoscopic treatment and two because of the ...

There are no simple guidelines on when to perform multidetector-row computed tomography (MDCT) for diagnosis of obscure acute gastrointestinal bleeding (AGIB). We used a risk scoring system to evaluate the diagnostic power of MDCT for patients with obscure AGIB. Ninety-two patients with obscure AGIB who were referred for an MDCT ...

OBJECTIVES: The objective of the study was to determine the prevalence of bleeding during continuous-flow left ventricular assist device support and to identify potential mechanisms for those bleeding events. BACKGROUND: Bleeding is frequently reported with continuous-flow left ventricular assist devices and may result from anticoagulation coupled with bleeding diathesis such ...

Of 634 consecutive patients who had percutaneous coronary intervention (PCI) for acute coronary syndromes, 34 (5%) had major bleeding after PCI, 253 (40%) had minor bleeding after PCI, and 347 (55%) had no bleeding after PCI. Significant independent risk factors for major bleeding after PCI were increased troponin I level ...