Case report : Williams-Campbell syndrome

Background: Williams-Campbell syndrome is a rare type of bronchiectasis that is due to deficiency or absence of cartilage in the fourth- to sixth-order bronchi. Case Report: The paper presents the case of a patient with large, bilateral bronchiectasis caused by defect of cartilage in the fourth- to sixth-order bronchi referred to as Williams-Campbell syndrome. Conclusions: Williams-Campbell syndrome should be taken into consideration in differential diagnosis of bronchiectasis. Both inspiratory and expiratory high-resolution computed tomography should be performed to establish the diagnosis

Primary systemic ANCA-associated vasculitis — recommendations concerning diagnosis and treatment

Pierwotne systemowe zapalenia naczyń (PZN) stanowią odrębną heterogenną grupę chorób o nieznanej etiologii [...

Atypical manifestations of granulomatosis with polyangiitis: the diagnostic challenge for pulmonologists

This is a review considering atypical manifestations of granulomatosis with polyangiitis (GPA). Virtually any organ can be affected, and in some patients, GPA can manifest unusually. Since thoracic involvement of GPA often predominates, the first who might be expected to establish a diagnosis are pulmonary specialists. We would like to familiarize pulmonary specialists with several extra-ELK (E: ear-nose-throat; L: lung; K: kidney) involvements of the disease. We describe sites rarely affected by GPA like the breast, skeletal system, orbit and eye, heart and vessels, central nervous system, urogenital system as well as endocrine and gastrointestinal tract involvement

Difficulties in recognizing granulomatosis with polyangiitis (GPA) in elderly patients undergoing diagnostic thoracotomy twice — a report of two cases

Granulomatosis with polyangiitis (GPA) is defined as a necrotizing granulomatous inflammation usually involving the upper and lower respiratory tract with necrotizing vasculitis affecting predominantly small to medium vessels. Because of non-specific symptoms, its radiological presentation, and the diversity of its clinical expression, it is not uncommon to for it to be misdiagnosed, especially in the elderly. Although biopsy and histological examination seem to be essential for GPA diagnosis, their results are sometimes ambiguous and not helpful in making a decision. In this report, we present difficulties in the recognition of GPA in two elderly patients in whom, despite twice performing a diagnostic thoracotomy, GPA was recognized almost 4 and 6 years after the first symptoms

Incidence of alpha-1 antitrypsin Z and S alleles in patients with granulomatosis with polyangiitis — pilot study

WSTĘP: Wrodzony niedobór alfa-1 antytrypsyny jest jedną z trzech najczęstszych chorób genetycznych rasy kaukaskiej i wiąże się z istotnie wyższym ryzykiem rozwoju postępujących obturacyjnych chorób płuc, zwłaszcza przewlekłej obturacyjnej choroby płuc. Niedostateczna aktywność hamująca alfa-1 antytrypsyny wobec proteinaz, a szczególnie proteinazy 3, skutkująca ich nadmierną aktywnością przypuszczalnie odgrywa również znaczącą rolę w patomechanizmie ziarniniakowatości z zapaleniem naczyń, dawnej ziarniniakowatości Wegenera, zwłaszcza postaci z przeciwciałami skierowanymi przeciwko proteinazie 3 (cANCA). cANCA-dodatnie zapalenie naczyń jest uznanym wskazaniem do diagnostyki w kierunku wrodzonego niedoboru alfa-1 antytrypsyny.MATERIAŁ I METODY: Pilotowym badaniem objęto grupę 51 chorych z potwierdzoną ziarniniakowatością z zapaleniem naczyń (GPA) i zajęciem układu oddechowego, u 43 z nich stwierdzono przeciwciała cANCA (cANCA+GPA). Grupę kontrolną stanowiło 658 noworodków przebadanych w ramach populacyjnego badania przesiewowego realizowanego na Mazowszu. W próbkach krwi obwodowej wykonano pomiar stężenia alfa-1antytrypsyny metodą nefelometryczną, fenotypowanie metodą ogniskowania izoelektycznego oraz genotypowanie metodą real-time PCR.WYNIKI: Allel deficytowy PI*Z stwierdzono u 3 (5,88%), a PI*S u 2 chorych (3,92%) z GPA, u wszystkich choroba przebiegała z obecnością przeciwciał cANCA. W grupie kontrolnej było to odpowiednio u 2,8% oraz 1,5% badanych. Zaobserwowano zwiększoną częstość występowania głównych alleli deficytowych u chorych na GPA, 29,4/1000 dla PI*Z, w tym 34,9/1000 w podgrupie cANCA+GPA w porównaniu z kontrolą 13,7/1000, natomiast dla PI*S odpowiednio 19,2/1000, 23,2/1000 dla cANCA+GPA oraz 7,6/1000 w grupie kontrolnej. Obserwowane różnice nie były istotne statystycznie w odniesieniu do kontroli, prawdopodobnie ze względu na różnice w liczebności porównywnych grup.WNIOSKI: Wstępne wyniki badania potwierdzają klinicznie istotną rolę niedoboru AAT oraz potrzebę prowadzenia diagnostyki w tym kierunku u chorych na GPA. Badanie jest kontynuowane.INTRODUCTION: Inherited alpha-1 antitrypsin (AAT) deficiency is one of the three most common genetic disorders in Caucasians. It considerably increases the risk of progressive obstructive lung diseases, mostly chronic obstructive pulmonary disease. It has also been suggested that AAT deficiency might be instrumental vasculitis associated with the anti-neutrophil cytoplasm antibodies (cANCA) and subsequent lung tissue injury.MATERIAL AND METHODS: We present the results from a pilot study involving 51 patients with granulomatosis with polyangiitis, formerly known as Wegener’s granulomatosis (GPA), 43 of whom were cANCA positive. The control group consisted of 658 individuals. AAT blood concentration assessment by nephelometry, phenotyping by isoelectrofocusing and real-time PCR genotyping were performed.RESULTS: Deficiency alleles PI*Z and PI*S were detected in 3 (5.88%) and in 2 patients (3.92%) with GPA, respectively. All of them were cANCA positive. In the controls, PI*Z was observed in 2.8% while PI*S in 1.5% of cases. Accordingly, the increased incidence of main deficiency alleles was demonstrated in GPA, and particularly in cANCA+GPA patients, when compared to the controls. The estimated frequency for PI*Z in GPA, cANCA+GPA patients and controls was, respectively, 29.4/1000, 34.9/1000 and 13.7/1000, whereas for PI*S it was 19.2/1000, 23.2/10,00 and 7.6/1000. However, the observed differences did not reach statistical significance due to the considerable size disproportion between groups.CONSCLUSIONS: We believe that our preliminary data confirm the clinical importance of AAT deficiency in GPA patients and the need to screen for AAT deficiency alleles. The study is on-going

On the magnetic structures of 1:1:1 stoichiometric topological phases LnSbTe (Ln = Pr, Nd, Dy and Er)

LnSbTe (Ln - lanthanide) group of materials, belonging to ZrSiS/PbFCl (P4/nmm) structure type, is a platform to study the phenomena originating from the interplay between the electronic correlations, magnetism, structural instabilities and topological electronic structure. Here we report a systematic study of magnetic properties and magnetic structures of LnSbTe materials. The studied materials undergo antiferromagnetic ordering at TN = 2.1 K (Ln = Er), 6.7 K (Ln = Dy), 3.1 K (Ln = Nd). Neutron powder diffraction reveals ordering with k1 = (1/2 + d 0 0) in ErSbTe, k2 = (1/2 0 1/4) in NdSbTe. DySbTe features two propagation vectors k2 and k4 = (0 0 1/2). No long-range magnetic order is observed in PrSbTe down to 1.8 K. We propose the most probable models of magnetic structures, discuss their symmetry and possible relation between the electronic structure and magnetic ordering.Comment: 21 pages, 10 figure

Short-range magnetic interactions and spin-glass behavior in the quasi-2D nickelate Pr4Ni3O8

The nickelate Pr4Ni3O8 features quasi-two-dimensional layers consisting of three stacked square-planar NiO2 planes, in a similar way to the well-known cuprate superconductors. The mixed-valent nature of Ni and its metallic properties makes it a candidate for potentially unconventional superconductivity. We have synthesized Pr4Ni3O8 by topotactic reduction of Pr4Ni3O10 in 10 percent hydrogen gas, and report on measurements of powder-neutron diffraction, magnetization and muon-spin rotation (uSR). We find that Pr4Ni3O8 shows complicated spin-glass behavior with a distinct magnetic memory effect in the temperature range from 2 to 300 K and a freezing temperature T_s ~ 68 K. Moreover, the analysis of uSR spectra indicates two magnetic processes characterized by remarkably different relaxation rates: a slowly-relaxing signal, resulting from paramagnetic fluctuations of Pr/Ni ions, and a fast-relaxing signal, whose relaxation rate increases substantially below ~ 70 K which can be ascribed to the presence of short-range correlated regions. We conclude that the complex spin-freezing process in Pr4Ni3O8 is governed by these multiple magnetic interactions. It is possible that the complex magnetism in Pr4Ni3O8 is detrimental to the occurrence of superconductivity

RENiO3 Single Crystals (RE = Nd, Sm, Gd, Dy, Y, Ho, Er, Lu) Grown from Molten Salts under 2000 bar of Oxygen Gas Pressure

The electronic properties of transition-metal oxides with highly correlated electrons are of central importance in modern condensed-matter physics and chemistry, both for their fundamental scientific interest and for their potential for advanced electronic applications. However, the design of materials with tailored properties has been restricted by the limited understanding of their structure−property relationships, which are particularly complex in the proximity of the regime where localized electrons become gradually mobile. RENiO3 perovskites, characterized by the presence of spontaneous metal to insulator transitions, are some of the most widely used model materials for the investigation of this region in theoretical studies. However, crucial experimental information needed to validate theoretical predictions is still lacking due to their challenging high-pressure synthesis, which has prevented to date the growth of sizable bulk single crystals with RE ≠ La, Pr, and Nd. Here we report the first successful growth of single crystals with RE = Nd, Sm, Gd, Dy, Y, Ho, Er, and Lu in sizes up to ∼75 μm, grown from molten salts in a temperature gradient under 2000 bar of oxygen gas pressure. The crystals display regular prismatic shapes with flat facets, and their crystal structures and metal−insulator and antiferromagnetic order transition temperatures are in excellent agreement with previously reported values obtained from polycrystalline samples. The availability of such crystals opens access to measurements that have hitherto been impossible to conduct. This should contribute to a better understanding of the fascinating properties of materials with highly correlated electrons and guide future efforts to engineer transition-metal oxides with tailored functional properties

Pleural sarcoidosis - a report of three cases

W niniejszej pracy przedstawiono przypadki 3 chorych na sarkoidozę z zajęciem opłucnej. Płyn opłucnowy występował u 2 chorych, podczas gdy u 1 pacjenta wykryto masywne zgrubienie opłucnej imitujące guz. Na podstawie badania histologicznego wycinków z opłucnej rozpoznano sarkoidozę. U żadnego chorego nie podejmowano leczenia. Podczas rocznej obserwacji nie stwierdzono nawrotu płynu opłucnowego, natomiast masywne zgrubienie opłucnowe u 1 chorego było stabilne.Three patients with pleural sarcoidosis are reported. Pleural effusion in two patients and a massive pleural thickening that mimicked a tumour were observed. Histological examination of pleural biopsies revealed sarcoidosis. None of the patients received treatment. No recurrence of the pleural effusion was observed after a year of follow-up and the massive pleural thickening remained stable