Humoral deficiencies represent a broad group of disorders. The aim of the study was to compare the levels of antibodies against pneumococcal capsular polysaccharides (anti-PCP) and natural anti-galactosyl (anti-Gal) antibodies in (1) patients with chronic lymphocytic leukaemia (CLL), (2) patients with common variable immunodeficiency (CVID), and (3) a healthy population and to explore their diagnostic and prognostic potential. Serum immunoglobulin levels and levels of anti-Gal IgG, IgA, and IgM and anti-PCP IgG and IgG2 were determined in 59 CLL patients, 30 CVID patients, and 67 healthy controls. Levels of IgG, IgA, IgM, anti-Gal IgA, anti-Gal IgM, and anti-PCP IgA were lower in CLL and CVID patients than in healthy controls (p value for all parameters < 0.0001). Decrease in the levels of IgA, IgM, anti-Gal IgA, and anti-PCP IgA was less pronounced in the CLL group than in the CVID group. IgA decline, anti-Gal IgA, anti-PCP IgA, and anti-PCP IgG2 were negatively correlated with CLL stage. We devise the evaluation of anti-Gal antibodies to be a routine test in humoral immunodeficiency diagnostics, even in cases of immunoglobulin substitution therapy. Significant reductions, mainly in anti-Gal IgA, IgM, and anti-PCP IgA levels, may have prognostic importance in CLL patients.

• MeSH
• Autoantibodies blood   MeSH
• Bacterial Capsules immunology   MeSH
• Common Variable Immunodeficiency diagnosis   immunology   MeSH
• Biomarkers blood   MeSH
• Adult MeSH
• Galactosylceramides immunology   MeSH
• Immunity, Humoral MeSH
• Immunoglobulin A blood   MeSH
• Immunoglobulin G blood   MeSH
• Immunoglobulin M blood   MeSH
• Middle Aged MeSH
• Humans MeSH
• Adolescent MeSH
• Young Adult MeSH
• Pneumococcal Infections diagnosis   immunology   MeSH
• Prognosis MeSH
• Antibodies, Bacterial blood   MeSH
• Aged, 80 and over MeSH
• Aged MeSH
• Streptococcus pneumoniae immunology   MeSH
• Check Tag
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Adolescent MeSH
• Young Adult MeSH
• Male MeSH
• Aged, 80 and over MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Journal Article MeSH

UNLABELLED: We aimed to show that the decrease in the cortical bone mineral density (BMD) in the radius in Turner syndrome (TS) is artificially caused by the partial volume effect. We confirmed that the partial volume effect-corrected cortical BMD is not decreased in TS compared to in the healthy controls. Other factors are responsible for the increased fracture rate in TS. INTRODUCTION: Decreased cortical bone mineral density (BMD) has been reported in Turner syndrome (TS), using peripheral quantitative computerised tomography, and it is perceived as one of the major factors leading to increased fracture risk. We tested the hypothesis that low cortical BMD in the radius is caused artificially by the partial volume effect. METHODS: A cross-sectional study was conducted at the university hospital referral centre between March and October 2013. Thirty-two participants with TS who consented to the study were included (mean age 15.3 ± 3.2 years). We assessed the cortical BMD in the radius as well as the tibia, where the cortex is thicker compared with the radius. RESULTS: Whereas the cortical BMD was decreased in the radius (mean ± SD Z-score -0.6 ± 1.5, p = 0.037), it was increased in the tibia (mean Z-score 0.83 ± 1.0, p < 0.001). After correcting the cortical BMD for the partial volume effect, the mean Z-score was normal in the radius in TS (0.4 ± 1.3, p = 0.064). The corrected cortical BMD values were similar in the radius and tibia (1108 ± 52 vs. 1104 ± 48, group difference p = 0.75). CONCLUSIONS: The cortical BMD is not decreased in TS. The partial volume effect is responsible for previous findings of decreased cortical BMD in the radius. Altered bone geometry or other factors rather than low cortical BMD likely play a role in the increased fracture risk in TS.

• MeSH
• Child MeSH
• Bone Density physiology   MeSH
• Humans MeSH
• Adolescent MeSH
• Young Adult MeSH
• Tomography, X-Ray Computed methods   MeSH
• Cross-Sectional Studies MeSH
• Radius radiography   MeSH
• Case-Control Studies MeSH
• Tibia radiography   MeSH
• Turner Syndrome radiography   MeSH
• Check Tag
• Child MeSH
• Humans MeSH
• Adolescent MeSH
• Young Adult MeSH
• Male MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

The short stature homeobox-containing gene (SHOX) plays an important role in bone development and growth. We aimed to assess bone geometry and volumetric bone mineral density at the radius in patients with isolated SHOX deficiency and to relate these bone parameters to the severity of disproportion between the upper and the lower body segment. 17 patients with isolated SHOX deficiency (median age 12.3 yrs, range 6.7-37.2, 12 children and 5 adults) were examined by peripheral quantitative CT (pQCT) at the non-dominant forearm. Results were expressed as Z-scores using published reference data. Linear regression analyses were performed to describe associations between pQCT parameters and the severity of disproportion expressed as sitting height to standing subischial leg height ratio. Trabecular volumetric bone mineral density (vBMD) at the distal radius was normal, whereas cortical vBMD was decreased (mean Z-scores 0.34±1.5, n.s., and -2.2±2.2, p<0.001, respectively). Total bone cross-sectional area was enlarged at the diaphysis (2.1±1.2, p<0.001), while cortical bone cross-sectional area was normal (-0.51±1.4, n.s.). Consequently, cortical thickness was decreased (-1.2±1.3, p<0.01). The polar strength-strain index as a surrogate of long bone strength was normal (0.40±1.4, n.s.). We found no associations between pQCT parameters and the severity of disproportion. Conclusions: Patients with isolated SHOX deficiency are characterized by decreased cortical vBMD and cortical thickness and enlarged diaphysis. As similar changes have been described in girls with Turner syndrome, these findings suggest that haploinsufficiency of SHOX could cause characteristic skeletal anomalies at the radius.

• MeSH
• Algorithms MeSH
• Diaphyses radiography   MeSH
• Child MeSH
• Adult MeSH
• Haploinsufficiency * MeSH
• Homeodomain Proteins genetics   metabolism   MeSH
• Bone Density MeSH
• Humans MeSH
• Adolescent MeSH
• Young Adult MeSH
• Tomography, X-Ray Computed MeSH
• Growth Disorders genetics   metabolism   physiopathology   radiography   MeSH
• Radius metabolism   radiography   MeSH
• Severity of Illness Index MeSH
• Body Size MeSH
• Child Development * MeSH
• Bone Development * MeSH
• Adolescent Development * MeSH
• Check Tag
• Child MeSH
• Adult MeSH
• Humans MeSH
• Adolescent MeSH
• Young Adult MeSH
• Male MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

OBJECTIVES: To present gender-specific pediatric normative data on the main parameters of muscle function assessed using jumping mechanography. METHODS: The study population included 796 non-selected Caucasian children and adolescents (432 girls and 364 boys) aged 6-19 years recruited from 6 primary schools and 3 high schools. Maximum peak power (Pmax) was examined by a single two-legged jump, and maximum force (Fmax) was examined by a multiple one-legged hopping. All measurements were performed using a portable force platform (Leonardo Mechanograph, Novotec). Pmax, Pmax/mass, Fmax and Fmax/body weight were analyzed as the main outcome parameters. LMS method was used to generate age- and weight-specific reference smooth curves. RESULTS: Both Pmax and Fmax were strongly dependent on age and weight in both genders (all p<0.001). In prepubertal children, there was no intergender difference in Pmax or Fmax. Both parameters steadily increased in boys and plateaued in girls aged >13 years. Whereas Pmax/mass was more dependent on anthropometric parameters, Fmax/BW remained nearly constant with respect to age and weight. CONCLUSIONS: These reference data are intended to assist clinicians in the assessment of muscle function by jumping mechanography in pediatric patients.

• MeSH
• Anthropometry MeSH
• Child MeSH
• Muscle, Skeletal physiology   MeSH
• Humans MeSH
• Adolescent MeSH
• Motor Activity physiology   MeSH
• Reference Values MeSH
• Muscle Strength physiology   MeSH
• Exercise Test methods   MeSH
• Check Tag
• Child MeSH
• Humans MeSH
• Adolescent MeSH
• Male MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

CONTEXT: The low bone mineral density (BMD) and alterations in bone geometry observed in patients with Turner syndrome (TS) are likely caused by hypergonadotropic hypogonadism and/or by haploinsufficiency of the SHOX gene. OBJECTIVE: Our objective was to compare BMD, bone geometry, and strength at the radius between prepubertal girls with TS and children with isolated SHOX deficiency (SHOX-D) to test the hypothesis that the TS radial bone phenotype may be caused by SHOX-D. DESIGN AND SETTING: This comparative cross-sectional study was performed between March 2008 and May 2011 in 5 large centers for pediatric endocrinology. PATIENTS: Twenty-two girls with TS (mean age 10.3 years) and 10 children with SHOX-D (mean age 10.3 years) were assessed using peripheral quantitative computed tomography of the forearm. MAIN OUTCOMES: BMD, bone geometry, and strength at 4% and 65% sites of the radius were evaluated. RESULTS: Trabecular BMD was normal in TS (mean Z-score = -0.2 ± 1.1, P = .5) as well as SHOX-D patients (mean Z-score = 0.5 ± 1.5, P = .3). At the proximal radius, we observed increased total bone area (Z-scores = 0.9 ± 1.5, P = .013, and 1.5 ± 1.4, P = .001, for TS and SHOX-D patients, respectively) and thin cortex (Z-scores = -0.7 ± 1.2, P = 0.013, and -2.0 ± 1.2, P < .001, respectively) in both groups. Bone strength index was normal in TS as well as SHOX-D patients (Z-scores = 0.3 ± 1.0, P = .2, and 0.1 ± 1.3, P = .8, respectively). CONCLUSIONS: The similar bone geometry changes of the radius in TS and SHOX-D patients support the hypothesis that loss of 1 copy of SHOX is responsible for the radial bone phenotype associated with TS.

• MeSH
• Sex Chromosome Aberrations MeSH
• Child MeSH
• Genetic Association Studies MeSH
• Genetic Diseases, Inborn genetics   metabolism   pathology   physiopathology   MeSH
• Haploinsufficiency * MeSH
• Homeodomain Proteins genetics   metabolism   MeSH
• Bone and Bones chemistry   pathology   MeSH
• Bone Density MeSH
• Humans MeSH
• Mechanical Phenomena MeSH
• Adolescent MeSH
• Mutation MeSH
• Growth Disorders etiology   MeSH
• Cross-Sectional Studies MeSH
• Radius MeSH
• Turner Syndrome genetics   metabolism   pathology   physiopathology   MeSH
• Child Development MeSH
• Bone Development * MeSH
• Bone Diseases, Developmental etiology   MeSH
• Check Tag
• Child MeSH
• Humans MeSH
• Adolescent MeSH
• Male MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Multicenter Study MeSH
• Research Support, Non-U.S. Gov't MeSH
• Comparative Study MeSH
• Geographicals
• Czech Republic MeSH

The pathogenesis of myotonic dystrophy type 2 includes the sequestration of MBNL proteins by expanded CCUG transcripts, which leads to an abnormal splicing of their target pre-mRNAs. We have found CCUG(exp) RNA transcripts of the ZNF9 gene associated with the formation of ribonuclear foci in human skeletal muscle and some non-muscle tissues present in muscle biopsies and skin excisions from myotonic dystrophy type 2 patients. Using RNA-FISH and immunofluorescence-FISH methods in combination with a high-resolution confocal microscopy, we demonstrate a different frequency of nuclei containing the CCUG(exp) foci, a different expression pattern of MBNL1 protein and a different sequestration of MBNL1 by CCUG(exp) repeats in skeletal muscle, vascular smooth muscle and endothelia, Schwann cells, adipocytes, and ectodermal derivatives. The level of CCUG(exp) transcription in epidermal and hair sheath cells is lower compared with that in other tissues examined. We suppose that non-muscle tissues of myotonic dystrophy type 2 patients might be affected by a similar molecular mechanism as the skeletal muscle, as suggested by our observation of an aberrant insulin receptor splicing in myotonic dystrophy type 2 adipocytes.

• MeSH
• Actins metabolism   MeSH
• Analysis of Variance MeSH
• Antigens, CD34 metabolism   MeSH
• Endothelium metabolism   pathology   MeSH
• Microscopy, Confocal MeSH
• Muscle, Skeletal metabolism   MeSH
• Skin metabolism   pathology   MeSH
• Humans MeSH
• Myotonic Disorders diagnosis   genetics   metabolism   pathology   MeSH
• Neurofilament Proteins metabolism   MeSH
• S100 Proteins metabolism   MeSH
• RNA-Binding Proteins genetics   metabolism   MeSH
• Receptor, Insulin genetics   MeSH
• Repetitive Sequences, Nucleic Acid genetics   MeSH
• RNA metabolism   MeSH
• RNA Splicing genetics   MeSH
• Protein Transport physiology   MeSH
• Adipocytes metabolism   pathology   MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH

• Publication type
• Abstracts MeSH

• Publication type
• Abstracts MeSH

• Publication type
• Abstracts MeSH

• Publication type
• Meeting Abstract MeSH