Case Report: A child with NFKB1 haploinsufficiency explaining the linkage between immunodeficiency and short stature.

We report the case of a patient with common variable immunodeficiency (CVID) presenting with short stature and treated with recombinant human growth hormone (rhGH). Whole exome sequencing revealed a novel single-nucleotide duplication in the NFKB1 gene (c.904dup, p.Ser302fs), leading to a frameshift and thus causing NFKB1 haploinsufficiency. The variant was considered pathogenic and was later found in the patient's mother, also affected by CVID. This is the first reported case of a patient with CVID due to NFKB1 mutation presenting with short stature. We analyzed the interconnection between NFKB1 and GH - IGF-1 pathways and we hypothesized a common ground for both CVID and short stature in our patient.

[Calcium release from the mineral matrix of the mandibular bone due to hydrogen peroxide exposure]. / Rilascio di calcio della matrice minerale di osso mandibolare mediante esposizione a perossido di idrogeno.

The purpose of this paper is to quantify by in vitro experiment free radical activity in jaw bone demineralization processes. Sample were take and graphic interpolation of calcium ions undertake. The significance of the results is compared with the paper that are published in literature on the same subject.

[DNA extraction from hard dental tissues]. / Estrazione di DNA dai tessuti duri del dente.

Two different standard ways of DNA extraction (salting out and phenol-chloroform methods) were assayed in order to recovery nucleic acids from dental tissues. The DNA extracted was tested for purity by means of transverse alternating field electrophoresis (TAFE) using Saccharomyces cerevisiae chromosomes as markers. Both extraction methods give similar qualitative and quantitative results being a DNA yield from hard dental tissues approximately 30% of those extracted from the whole tooth. Our results indicate salting out as a preferable method due to its rapidity and usefulness.

[Correlation between serum glutathione reductases and bone densitometry values]. / Correlazione tra glutatione-reduttasi serica e valori densitometrici ossei.

Free radicals, because of their marked chemical activity, have often been found to be involved in many human diseases. Enzymatic antioxidant systems, namely glutathione-reductase, present both in red blood cells and in serum, have been demonstrated to play a key role as free radicals scavengers. The present work has been carried out in order to evaluate the possible role played by free radicals in the demineralization process of the bone matrix. Glutathione-reductase activity, assayed by a slightly modified Horn's method, was related to bone density measurements. All the subjects with reduced densitometric values showed reduced glutathione-reductase levels. Our results seem to support the hypothesis of a strict relationship between low activity of antioxidant systems and demineralization process of the bone, in consequence of enhanced free radical levels.

Cervical spine MR imaging using multislice gradient echo imaging: comparison with cardiac gated spin echo.

Forty-one patients with suspected cervical spine disorders were studied using multislice gradient echo imaging (GE) technique, with a 1.5-T system. The images were compared to cardiac-gated spin echo (CGSE) images in the diagnosis of suspected cord and spinal disorders. Images were graded for ability to detect cord lesion, cord-CSF contrast, CSF-bone contrast and contrast between CSF and extradural abnormality. The signal-to-noise ratio and contrast-to-noise ratio were used to compare images. There was 44% decrease in contrast between cord lesion and normal cord on GE when compared to CGSE, except for spinal cord hemorrhage. There was a 40% improvement between bone and CSF contrast on GE compared to CGSE. GE images were significantly better qualitatively as well as quantitatively in the detection of extradural lesions. This effect was more marked in axial plane where CGSE images are extremely suboptimal. CGSE images are better than GE for spinal cord lesions, while GE are superior in the diagnosis of degenerative disease in the cervical spine.

Calcified intracranial lesions: detection with gradient-echo-acquisition rapid MR imaging.

Seventeen patients with partially calcified intracranial lesions, as documented by CT, were evaluated with MR imaging at 1.5 T. All patients were imaged with both conventional spin-echo techniques and reduced flip-angle gradient-echo-acquisition (GEA) sequences, during which a signal is acquired in the absence of a 180 degrees radiofrequency pulse. GEA parameters were implemented so that T2* effects were maximized on these scans. In all 17 patients GEA images showed marked hypointensity throughout the entire area of calcification, matching the calcified region as seen on CT. In contrast, spin-echo findings in the calcified portions of the lesions were extremely variable, precluding confident identification of calcification on these images. The depiction of regions of calcification as marked hypointensity on GEA images can be ascribed to T2* shortening from static local magnetic field gradients at interfaces of regions differing in magnetic susceptibility, a phenomenon that is well documented in vitro, when various diamagnetic solids are placed in aqueous suspension. However, we cannot exclude the possible additional role of accompanying paramagnetic ions, which sometimes are present with diamagnetic calcium salts in various intracranial calcifications. Since the hypointensity due to calcification on GEA images is not specific, noncontrast CT could be used to confirm its presence. Although this lack of specificity and the artifacts that emanate from diamagnetic susceptibility gradients at or near air-brain interfaces somewhat limit the application of GEA techniques, we suggest that rapid MR imaging using GEA sequences can consistently demonstrate intracranial calcification, and that this technique thus seems to be a useful adjunct to conventional spin-echo imaging.

High-resolution MR imaging of the normal rotator cuff.

The shoulders of six normal volunteers were imaged with high-resolution MR in the axial, sagittal, and coronal planes. An angled pair of counter-rotating current loop-gap resonators designed specifically for the shoulder was used as a local coil. All images were compared with corresponding cryomicrotome sections from cadaver shoulders. The rotator cuff was analyzed in detail. It appeared as a complex, heterogeneous band to tissue superficial to the humeral head. The areas of low signal intensity corresponded to the central tendons of the four rotator cuff muscles. These tendons could be distinguished from each other as well as from the intervening components of the cuff, which have a moderate intensity. We concluded that MR is capable of imaging the normal rotator cuff and of separating the various components. This may allow for improved precision in the diagnosis of rotator cuff disorders.

Rotator cuff tears: preliminary application of high-resolution MR imaging with counter rotating current loop-gap resonators.

A new class of radio frequency (RF) coils for magnetic resonance (MR) imaging and spectroscopy is introduced. The coils consist of two loop-gap resonators of equal diameters positioned along a common axis. They are tuned to the mode in which the current in the two loops flows in opposite directions. These coils are "decoupled" from a uniform excitation field of arbitrary orientation (including circularly polarized fields) by intrinsic decoupling and by means of back-to-back fast recovery diodes. Measurements made with the coils and a phantom saline tank indicate that the signal-to-noise ratio obtainable with these coils is almost identical to that obtained with single loops. Imaging of several anatomic areas, including knee, wrist, and shoulder, has been performed with a 1.5-T MR system that uses circularly polarized RF. A small series of patients with torn rotator cuffs underwent imaging. Difficulties in establishing the diagnosis with MR imaging because of anatomic complexity are illustrated. The value of pulse sequences with long repetition times to increase the signal intensity of fluid in the joint is shown.