Search results for " deficiency"
showing 10 items of 669 documents
Cytokine genotyping (TNF and IL-10) in patients with celiac disease and selective IgA deficiency
2003
Selective IgA deficiency (IgAD) and celiac disease (CD) are frequently associated and share the ancestral haplotype human leukocyte antigen (HLA)-8.1, which is characterized by a peculiar cytokine profile. The aim of this study was to evaluate the role of tumor necrosis factor (TNF) and interleukin (IL)-10 alleles in CD and CD-IgAD.The distribution of some biallelic polymorphisms of both cytokine promoters (-308G--A and -863C--A at TNF promoter sequence and -1082G--A, -819C--A, and -592C--T at IL-10 promoter) were typed using biotilinated specific probes in 32 celiac patients, in 34 CD-IgAD patients, and in 96 healthy controls.In CD and CD-IgAD, the -308A allele was significantly more frequ…
AISF update on the diagnosis and management of adult-onset lysosomal storage diseases with hepatic involvement.
2020
Lysosomal storage diseases (LSDs) are a heterogeneous group of inherited disorders caused by loss-of-function mutations in genes encoding for lysosomal enzymes/proteins. The consequence is a progressive accumulation of substrates in these intracellular organelles, resulting in cellular and tissue damage. The overall incidence is about 1/8000 live births, but is likely underestimated. LSDs are chronic progressive multi-systemic disorders, generally presenting with visceromegaly, and involvement of the central nervous system, eyes, the skeleton, and the respiratory and cardiovascular systems. The age at onset and phenotypic expression are highly variable, according to the specific enzymatic d…
Prevalence of late-onset 11 β-hydroxylase-deficiency in hirsute patients
1988
Serum levels of 11-deoxycortisol were determined in 182 hirsute women. Three patients presented high basal 11-deoxycortisol levels and an exaggerated response of this steroid to ACTH stimulation. A fourth patient had normal basal 11-deoxycortisol but was hyperresponsive to ACTH stimulation. Therefore diagnosis of late-onset 11 beta-hydroxylase deficiency was made in 4 out of 182 hirsute women with a prevalence of 2.2% in the group studied. In these patients, clinical findings and other hormonal patterns were not different from those of other women suffering from hirsutism.
No Association between Mannose-Binding Lectin Alleles and Susceptibility to Chronic Hepatitis B Virus Infection in German Patients
1998
Variants of the mannose-binding lectin (MBL) have been shown to be associated with low serum concentrations of the protein and to predispose to bacterial, fungal and viral infections. A recent small study on 33 Caucasian patients had suggested that a mutation at codon 52 of the MBL gene is associated with chronic hepatitis B virus (HBV) infection. Exon 1 of the MBL gene was amplified by PCR in 61 patients with chronic HBV infection, 28 patients with acute infection and in 60 controls. MBL variants were detected by subsequent restriction enzyme digestion and agarose gel electrophoresis. The occurrence of the codon 52 mutation in patients with chronic HBV infection did not differ significantl…
Cellular-free magnesium depletion in brain and muscle of normal and preeclamptic pregnancy: A nuclear magnetic resonance spectroscopic study
2004
Preeclampsia is a pregnancy disorder of unknown origin, characterized by vasospasm, elevated blood pressure, and increased neuromuscular irritability, features common to syndromes of magnesium deficiency. Evidence of serum and ionized magnesium metabolism disturbances have been observed in women with preeclampsia. This and the therapeutic utility of magnesium in preeclampsia led us to investigate the extent to which an endogenous tissue magnesium deficiency might be present in and contribute to its pathophysiology. We used 31 P nuclear magnetic resonance spectroscopy to noninvasively measure in situ intracellular-free magnesium levels in brain and skeletal muscle of fasting nonpregnant wom…
Liver cirrhosis associated with heterozygous alpha-1-antitrypsin deficiency type Pi MS and autoimmune features.
1995
Patients with homozygous protease inhibitor (Pi) type ZZ or a few rare M-like types may develop liver cirrhosis due to intracellular storage of alpha-antitrypsin (AAT), whereas some patients with heterozygous Pi MZ or SZ normally present with transient abnormal liver function tests in childhood. We report a 42-year-old obese patient who developed liver cirrhosis in association with heterozygous Pi MS (AAT) deficiency. Immunohistological and electron microscope examination showed storage of AAT in the hepatocytes. Interestingly, autoimmune features in this patient suggest that abnormal immune responses may contribute to the pathology of chronic liver disease.
Growth hormone replacement in adults:Real-world data from two large studies in US and Europe
2020
Objective: This report describes the effectiveness and safety of growth hormone replacement in 3180 adult patients with growth hormone deficiency followed-up for 0.0–12.2 years in two completed, complementary, non-interventional, multicentre studies, NordiNet® International Outcome Study (IOS) (NCT00960128) and the American Norditropin® Studies: Web-Enabled Research (ANSWER) Program (NCT01009905). Design: In both studies, Norditropin® (somatropin; Novo Nordisk A/S, Denmark) was administered at the discretion of the treating physician and according to routine practice. We present data on baseline characteristics, growth hormone dose, safety data and change from baseline in waist circumferenc…
Impact of a 4-Week Intensified Endurance Training Intervention on Markers of Relative Energy Deficiency in Sport (RED-S) and Performance Among Well-T…
2020
Cyclists often apply block periodization to high training volumes in meso- and macrocycles to optimize training adaptation and to prepare for competition. Body mass influences performance in many sports, including endurance disciplines, and conditions related to the syndrome Relative Energy Deficiency in Sports (RED-S) such as metabolic adaptations and premature osteoporosis have also been reported in male cyclists. This study aimed to determine how a 4-week mesocycle of intensified endurance training designed to increase performance, would affect markers of RED-S in well-trained male cyclists. Twenty-two participants (age: 33.5 ± 6.6 years, height: 181.4 ± 5.2 cm, weight: 76.5 ± 7.4 kg, pe…
Tracking of fruit, vegetables and unhealthy snacks consumption from childhood to adulthood (15 year period): does exposure to a free school fruit pro…
2019
Background The rationale for promoting increased consumption of fruit and vegetables (FV) at an early age is based on results from previous tracking-studies, indicating that dietary habits learned in childhood sustain into adulthood. Previous tracking studies have several limitations (e.g. low study sample, few repeated measurements and/or short a follow-up period). In addition, to our knowledge, no study has shown that a dietary intervention initiated in childhood affects tracking of dietary behaviour. The main objectives in this study were therefore to assess tracking of FV and unhealthy snacks in a large sample with multiple follow-up surveys over 15-years, and whether exposure to free s…
Higher vitamin B12 levels in neurodevelopmental disorders than in healthy controls and schizophrenia
2020
Recent studies suggest that both high and low levels of vitamin B12 (vitB12) may have negative health impacts. We measured VitB12 in patients with the Neurodevelopmental disorders (ND) (n = 222), comprised of Autism Spectrum Disorders, specific Developmental disorders, and Intellectual Disability (aged 2-53 years), schizophrenia (n = 401), and healthy controls (HC) (n = 483). Age-and gender-adjusted vitB12 z-scores were calculated by comparisons with a reference population (n = 76 148). We found higher vitB12 in ND (median 420 pmol/L, mean z-score: 0.30) than in HC (316 pmol/L, z-score: 0.06, P < .01) and schizophrenia (306 pmol/L, z-score: -0.02, P < .001), which was significant after adju…