Alpha-thalassemia/mental retardation syndrome (ATR-X) in two brothers - clinical characteristics, diagnostics and genetic counselling issues

Alpha-thalassemia/mental retardation syndrome (ATR-X) is a neurodevelopmental disorder with characteristic clinical picture as well as presence of pathognomonic haemoglobin H inclusions (HbH) on peripheral blood examination. Typical features of this condition are: severe intellectual impairment, muscular hypotonia, delay of growth, genitourinary/skeletal abnormalities and characteristic facial dysmorphism. Molecular basis of the syndrome constitute mutations in ATR-X gene located on the long arm of X chromosome (Xq13). In this work, clinical characteristics of the molecularly confirmed case of ATR-X syndrome in two brothers are presented. The mother of both affected boys is an asymptomatic mutation carrier. In one of the brothers additional studies revealed the presence of de novo 1q21.1 microdeletion. ATR-X syndrome symptomatology, differential diagnostics issues as well as the aims of genetic counselling are described.     

Studies on Criteria of the European Academy of Dermatology and Venerology for the Classification of Cutaneous Lupus Erythematosus

A group of 140 cases of various forms of lupus erythematosus (LE) were examined for 24 variables, including the 11 criteria of the American Rheumatism Association (ARA) for the classification of systemic lupus erythematosus (SLE), and 13 additional criteria suggested by the European Academy of Dermatology and Venerology (EADV) for studies of cutaneous LE with or without systemic involvement. The EADV study factors included skin histopathology and immunopathology, complement and IgG levels, and other laboratory tests, as well as selected clinical findings, most notably the papulosquamous and/or annular lesions that characterize subacute cutaneous LE (SCLE). The patients examined included 50 SLE, 35 SCLE, 30 discoid LE (DLE), 25 disseminated DLE (DDLE), and 17 polymorphous light eruption (PMLE) cases. Preliminary analyses of the data reveal the following: (1) The SCLE cases differed significantly from SLE, DLE, and DDLE in 10 of 11 ARA criteria (all but photosensitivity). (2) The frequencies of positive findings in SCLE also differed significantly for 11 of 13 EADV study factors. (3) While no significant differences appeared in the frequency of photosensitivity between the five study groups, photo-testing revealed significant increases in the frequency of persistence of the photo reactions for 10 days and their Koebnerization in the SCLE cases. (4) The presence of SS-A (Ro)/SS-B (La) antibodies had some predictive value for the appearance of systemic involvement in SCLE, as seen by the increased frequencies of five or more ARA criteria, although highly significant differences from SLE occurred in the absence of renal involvement and lower frequency of ANA and LE band test.(ABSTRACT TRUNCATED AT 250 WORDS)     

Immunologic phenomena in herpes gestationis

Summary Immunofluorescence findings are of diagnostic significance in herpes gestationis. The studies in two cases demonstrated some complement components (chiefly C₃ and C₄, but no C_1q), without immunoglobulins at the basement membrane zone and with no circulating anti BMZ antibodies. In one case IgG were found at the BM zone in one biopsy specimen, but were not demonstrable in several other biopsies.The IF findings seem to indicate both the alternate and classical pathways of complement activation, and speak in favor of a relation between herpes gestationis and bullous pemphigoid, in which sometimes the immunoglobulins are also not demonstrable and the immunofluorescent pattern is very much like that of herpes gestationis.

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Zusammenfassung Immunofluorescenz-Beobachtungen sind diagnostisch bedeutsam bei Herpes gestationis. Untersuchungen bei zwei Patienten zeigten, daß Complement-Komponente (im wesentlichen C₃ und C₄, nicht aber C_1q) bei fehlenden Immunglobulinen an der Basalmembranzone (BMZ) nachweisbar waren. Circulierende Anti-BMZ-Antikörper fehlten. In einer Biopsie war IgG an der Basalmembranzone sichtbar, weitere Gewebsentnahmen waren jedoch negativ.Die Ergebnisse der Immunfluorescenz lassen den alternierenden und den klassischen Weg der Complementaktivierung vermuten. Sie weisen auf eine Beziehung zwischen Herpes gestationis und bullösem Pemphigoid hin. Auch bei der letzteren Erkrankung sind Immunglobuline gelegentlich nicht nachweisbar, und das Immunfluorescenzbild wird dem des Herpes gestationis ähnlich.

     

Multiple Cutaneous and Uterine Leiomyomas Associated with Gastric Gist

Background

There are a number of reports documenting familial cases of leiomyomatosis cutis associated with uterine leiomyomata. However, to our knowledge, the association of gastrointestinal stromal tumour (GIST) with this entity has not as yet been reported. We report an interesting case of cutaneous leiomyomatosis, metachronous uterine leiomyomata, and a gastric GIST in a 43-year-old woman.

Observation

The patient had previously undergone two separate uterine myomectomies at ages 25 and 26 years, respectively, followed by a hysterectomy at 27 years. At 36 years she underwent partial gastrectomy for excision of GIST and this was followed by the development of extensive, symptomatic cutaneous leiomyomata at 43 years. In the report, we have documented histological, immunohistochemical and clinical observations and furthermore report on the therapeutic measures undertaken.

Conclusion

We report an interesting association of cutaneous leiomyomatosis, uterine leiomyomas and GIST.     

Effect of Gd3+ Substitution on Thermoelectric Power Factor of Paramagnetic Co2+-Doped Calcium Molybdato-Tungstates

A series of Co²⁺-doped and Gd³⁺-co-doped calcium molybdato-tungstates, i.e., Ca_1−3x−yCo_{y x}Gd_2x(MoO₄)_1−3x(WO₄)_3x (CCGMWO), where 0 < x ≤ 0.2, y = 0.02 and represents vacancy, were successfully synthesized by high-temperature solid-state reaction method. XRD studies and diffuse reflectance UV–vis spectral analysis confirmed the formation of single, tetragonal scheelite-type phases with space group I4₁/a and a direct optical band gap above 3.5 eV. Magnetic and electrical measurements showed insulating behavior with n-type residual electrical conductivity, an almost perfect paramagnetic state with weak short-range ferromagnetic interactions, as well as an increase of spin contribution to the magnetic moment and an increase in the power factor with increasing gadolinium ions in the sample. Broadband dielectric spectroscopy measurements and dielectric analysis in the frequency representation showed a relatively high value of dielectric permittivity at low frequencies, characteristic of a space charge polarization and small values of both permittivity and loss tangent at higher frequencies.     

A novel founder CHEK2 mutation is associated with increased prostate cancer risk

Variants in the CHEK2 have been found to be associated with prostate cancer risk in the United States and Finland. We sequenced CHEK2 gene in 140 Polish patients with prostate cancer and then genotyped the three detected variants in a larger series of prostate cancer cases and controls. CHEK2 truncating mutations (IVS2 + 1G>A or 1100delC) were identified in 9 of 1921 controls (0.5%) and in 11 of 690 (1.6%) unselected patients with prostate cancer [odds ratio (OR) = 3.4; P = 0.004]. These mutations were found in 4 of 98 familial prostate cases (OR = 9.0; P = 0.0002). The missense variant I157T was also more frequent in men with prostate cancer (7.8%) than in controls (4.8%), but the relative risk was more modest (OR = 1.7; P = 0.03). I157T was identified in 16% of men with familial prostate cancer (OR = 3.8; P = 0.00002). Loss of the wild-type CHEK2 allele was not observed in any of prostate cancers from five men who carried CHEK2-truncating mutations. Our results provide evidence that the two truncating mutations of CHEK2 confer a moderate risk of prostate cancer in Polish men and that the missense change appears to confer a modest risk.     

Behavior of Weld to S960MC High Strength Steel from Joining Process at Micro-Jet Cooling with Critical Parameters under Static and Fatigue Loading

The paper is focused on testing the weld of the S960MC steel produced at the micro-jet cooling under static and fatigue loading at critical parameters. This kind of material was in the form of a sheet with a thickness equal to 2 mm. The joint was obtained using three different types of welding wires: EDFK 1000, Union NiMoCr and Union X96 at the same parameters of the process. The joints were examined using non-destructive and destructive tests. The results from non-destructive experiments enable us to assess the quality of the welds directly before the joining process. In contrast, the destructive one allows following welds behavior under different loading conditions with their critical parameters. The bending experiments confirmed the good plastic properties of the weld, expressed by no cracks in the region tested in many variants of the joint manufactured. The results from static tests indicated a significant reduction of mechanical parameters of the weld in comparison to the base metal, expressed by 50% differences. Fatigue data have enabled us to follow the welding behavior at the increasing amplitude of axial stress up to fracture at constant amplitude value covering the following values of stress 650 MPa–100 MPa. Variations of total energy are presented at different values of several cycles up to fracture. Fracture regions are collected for analysis of the joint region features under cyclic loading. They have indicated differences in weld cracking depended on the stress level. Finally, the Wöhler S-N curve of the weld was determined, indicating the value of the fatigue limit of the weld tested, i.e., 100 MPa. The weld at the Union NiMoCr welding wire was indicated as the joint having the highest resistance on static and fatigue loadings.     

Formulation of Strain Fatigue Criterion Based on Complex Numbers

In the case of many low-cycle multiaxial fatigue criteria, we encounter a mathematical problem of adding vectors of normal and shear strains. Typically, the problem of defining an equivalent strain is solved by weighting factors. Unfortunately, this ignores the fact that these vectors represent other physical quantities: the normal strain is a longitudinal strain, and the shear strain is a rotation angle. Therefore, the goal of the present work was to propose a method of combining different types of strains by adopting a system of complex numbers. The normal strain was defined as the real part and the shear strain was defined as the imaginary part. Using this approach, simple load states, such as pure bending and pure torsion, have been transformed into an expression for equivalent strain identical to the previously proposed criteria defined by Macha.