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In this study, multilayered Cu/HA/ZnS + PEEK coatings were fabricated using hybrid technology on Zr–2.5Nb alloy substrates. The use of electrophoretic deposition (EPD) and heat treatment allowed the 1st base composite ZnS + PEEK layer and the 2nd hydroxyapatite (HA) top layer to be obtained. The EPD kinetics of both layers was studied. Heating at a temperature of 450 °C and slow cooling resulted in densification and sulfonation of PEEK. It also led to an increase in the adhesion of HA particles on the surface of the PEEK + ZnS layer and to the settlement of HA particles deep into the 1st layer. The effect of substrate preparation on the adhesion strength of coatings was investigated. The ZnS + PEEK layer exhibited high adhesion to the chemically treated zirconium alloy. Furthermore, the first layer was characterized by a high scratch resistance. The selective distribution of Cu on the top of the coating was obtained by shadow-masked pulsed laser deposition (PLD). The multilayered coatings exhibited high roughness and mild hydrophobicity. This study showed the possibility of obtaining a multilayered coating system with a controlled distribution of bioactive components (HA) and antimicrobial components (Cu) on its surface using a hybrid method that combined EPD, heat treatment, and PLD.

Magdalena Pasińska,1 Ewelina Łazarczyk,1 Anna Repczyńska,1 Agnieszka Sobczyńska-Tomaszewska,2 Janusz Zimowski,3 Agata Runge,1 Olga Haus1 1Department of Clinical Genetics, Faculty of Medicine, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University, Bydgoszcz, Poland; 2Medical Center “Medgen”, Warszawa, Poland; 3Department of Genetics, Institute of Psychiatry and Neurology, Warszawa, PolandCorrespondence: Magdalena Pasińska, Department of Clinical Genetics, Faculty of Medicine, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University, ul. M. Skłodowskiej-Curie 9, Bydgoszcz, 85-094, Poland, Tel/Fax +48 52 585 35 68 ; +48 52 585 36 70, Email magdalena@cm.umk.pl; magdapas@wp.plIntroduction: The X and Y chromosomes are responsible for the determination and differentiation of the gonads, and their numerical and structural abnormalities may cause the abnormal development of secondary sex characteristics. The presence of abnormalities concerning X chromosome can also contribute to many genetically heterogeneous diseases associated with cognitive impairment and intellectual disability.Purpose: This study shows the effect of aberrations of the maternal X chromosome on the abnormal development of the child.Patients and Methods: Ten women aged 26 to 40 years were consulted in genetic counselling clinic and subsequently subjected to cytogenetic and molecular tests due to abnormal psychomotor development of their children, in whom structural aberrations of the X chromosome had been detected.Results: Two women were diagnosed with changes in karyotype: 46,X,der(X)t(X;Y)(p22.3;q11.2) in one and 46,X,inv(X)(p21.2q13). Five women were diagnosed with microduplications in the short arm of the X chromosome; dupXp22.31 in one, and in four women dupXp22.33. The remaining three women were diagnosed with duplication in the long arm of the X chromosome; dupXq25 in one and dupXq26.3 in two women.Conclusion: Genetic analysis of the X chromosome, based on cytogenetic and molecular methods of the highest available resolution, is extremely important in women with reproductive failure. These methods allow establishing accurately the breakpoints and rearrangements in chromosomes, and assessment of the copy number variation (CNV) can explain phenotypic variability with apparently similar aberrations. A more precise characterization of the alterations is necessary for the correct genetic diagnosis, as well as determination of the carrier status and genetic risk in family members.Keywords: X chromosome, structural aberrations, genetic diagnostics, genetic counseling, intellectual disability

Introduction: Anorexia nervosa (AN) is a serious chronic psychosomatic disorder, the essence of which are attempts by the sufferer to obtain a slim silhouette by deliberate weight loss (restrictive diet, strenuous physical exercise, provoking vomiting). The aetiology of this disorder is multifactorial. Genetic factors that influence the predisposition to AN have been sought. A broad meta-analysis points to a strong genetic correlation between AN and insulin resistance. Adiponectin (ADIPO) increases insulin sensitivity. In our pilot study we demonstrated that the TT genotype in locus ADIPOQ c.276 G>T of the ADIPO gene and a higher concentration of ADIPO in blood serum occurred significantly more frequently in 68 girls suffering from AN than in 38 healthy girls. The objective of this study was to evaluate the frequency of the occurrence of ADIPOQ c.45 T>G and ADIPOQ c.276 G>T in the ADIPO gene in a larger cohort of girls with AN and healthy girls, as well as an analysis of correlations between variants of the aforementioned polymorphisms and the levels of ADIPO in blood serum. Material and methods: The study covered 472 girls (age: 11–19 years): 308 with the restrictive form of AN (AN) and 164 healthy girls (C). The level of ADIPO in blood serum was determined by means of the ELISA method on a Bio-Vendor, LLC (Asheville, North Carolina, USA). The DNA isolation was carried out by means of Genomic Mini AX BLOOD (SPIN). The PCR reaction was carried out in a ThermoCycle T100 thermocycler. 80–150 ng of the studied DNA and relevant F and R starters were added to the reaction mixture. The reaction products were subjected to digestion by restriction enzymes and separated on agarose gels (RFLP). Results: The distribution of genotypes in the polymorphic site ADP c.45 of the ADIPO gene and ADP c.276 was similar in both groups. In both groups the T allele was most frequent in locus ADIPOQ c.45 and the G allele in locus ADIPOQ c.276 . In all the study subjects collectively (AN and C) a statistically significant negative correlation between the levels of ADIPO in blood serum on one hand and body weight (r = –0.46; p < 0.0001) and BMI (r = –0.67; p < 0.0001) on the other was demonstrated. Exclusively in the AN group a significant correlation between the level of ADIPO in blood and the distribution of TG, TT, and GG alleles in loci ADIPOQ c.45 and ADIPOQ c.276 was demonstrated (p = 0.0052 and p < 0.0001, respectively). Conclusions: The genotype in loci ADIPOQ c.45 and ADIPOQ c.276 of the ADIPO gene seems to have no effect on the predisposition to AN. Girls suffering from AN with the TT genotype in loci ADIPOQ c.45 and ADIPOQ c. 276 may demonstrate higher insulin sensitivity because they have significantly higher levels of ADIPO than girls suffering from AN with other genotypes. This may be suggestive of their better adaptation to the state of malnutrition, and it has a potential effect on treatment results.

Background Elucidating the molecular pathogenesis underlying the East Texas Bleeding Disorder (ET) led to the discovery of alternatively spliced F5 transcripts harboring large deletions within exon 13. These alternatively spliced transcripts produce a shortened form of coagulation factor V (FV) in which a large portion of its B-domain is deleted. These FV isoforms bind tissue factor pathway inhibitor alpha (TFPIα) with high affinity, prolonging its circulatory half-life and enhancing its anticoagulant effects. While 2 missense pathogenic variants highlighted this alternative splicing event, similar internally deleted FV proteins are found in healthy controls. Objective We identified a novel heterozygous 832 base pair deletion within F5 exon 13, termed F5-Atlanta (F5-ATL), in a patient with severe bleeding. Our objective is to investigate the effect of this deletion on F5 and FV expression. Methods & results Assessment of patient plasma revealed markedly elevated levels of total and free TFPI and a FV isoform similar in size to the FV-short described in ET. Sequencing analyses of cDNA revealed the presence of a transcript alternatively spliced using the ET splice sites, thereby removing the F5-ATL deletion. This alternative splicing pattern was recapitulated by heterologous expression in mammalian cells. Conclusions These findings support a mechanistic model consisting of cis-acting regulatory sequences encoded within F5 exon 13 that control alternative splicing at the ET splice sites and thereby regulate circulating FV-short and TFPIα levels.

In this study, molybdenum disulfide nanosheets, bioactive hydroxyapatite particles of two types in various amounts, and PEEK 704 microparticles were electrophoretically co-deposited to fabricate multicomponent coatings on Ti-13Nb-13Zr alloy substrates. A mixture of pure ethanol and cationic chitosan polyelectrolyte was used as a dispersion medium. The kinetics and mechanism of deposition were investigated. The kinetics depended significantly on the suspension’s chemical composition and the voltage used during EPD. Cationic chitosan provided the steric stabilization of the suspension and enabled cathodic co-deposition of all coating components. Green macroscopically homogeneous coatings were subsequently heat treated. The treatment densified the coatings and caused the formation of a stable semi-crystalline PEEK matrix consisting of spherulites. The MoS2 nanosheet packages, separate HA particles and their agglomerates were embedded in the coating matrix. After heat treatment, both types of coatings, differing in HA type, were characterized by excellent adhesion to the substrate and moderate scratch resistance. During surface topography investigation, it was found that coatings containing smaller HA nanoparticles had a slightly lower surface roughness. The coatings raised the corrosion resistance of the titanium alloy substrate in Ringer’s solution. The possibility of the electrophoretic co-deposition of various ceramic and PEEK particles to develop multicomponent coatings, as well as their contribution to enhancing titanium alloy surface properties, represents an important input in further developing superior bioactive titanium implants.

Triploidy is a life-limiting genetic aberration resulting from an extra haploid set of chromosomes of paternal (diandric triploidy) or maternal origin (digynic triploidy). Triploidy affects around 1%-2% of all conceptions. The majority of cases is miscarried at early developmental stages. In consequence of genomic imprinting, parental origin affects the phenotype of triploid pregnancies as well as the prevalence and spectrum of related maternal complications. Distinctive ultrasound features of both triploid phenotypes as well as characteristic patterns of biochemical markers may be useful in diagnosis. Molecular confirmation of the parental origin allows to predict the risk of complications, such as gestational trophoblastic neoplasia, hyperthyroidism, hypertension, or preeclampsia associated with the paternal origin of triploidy. Diagnosis of partial hydatidiform mole associated with diandric triploidy is challenging especially in the first trimester pregnancy loss due to the limitations of both histopathology and ultrasound. We present important clinical aspects of triploid pregnancies and indicate unresolved issues demanding further studies.

Purpose To establish the distribution of diandric and digynic triploidy depending on gestational age. Methods 107 triploid samples tested prospectively in a single genetic department during a four-year period were analyzed for parental origin of triploidy by Quantitative Fluorescent Polymerase Chain Reaction (QF-PCR) (n=95) with the use of matching parental samples or by MS-MLPA (n=12), when parental samples were unavailable. Tested pregnancies were divided into three subgroups with regard to the gestational age at spontaneous pregnancy loss: 14 gestational weeks. Results Diandric triploidy constituted overall 44.9% (46.5% in samples miscarried 14 gestational weeks). Conclusions The distribution of diandric and digynic triploidy depends on gestational age. The majority of diandric triploid pregnancies is lost in the first trimester of pregnancy. In the second trimester, diandric cases are at least twice less frequent than digynic ones.

BACKGROUND Congenital factor X deficiency (FXD) is a rare bleeding disorder that often presents with severe bleeding in the neonatal period. Long-term prophylaxis with infusions of FX-containing products is recommended in patients with FXD and a personal or family history of severe bleeding. A plasma-derived FX concentrate (pdFX) is approved for on-demand and prophylactic therapy in adults and children with FXD. The safety and efficacy of pdFX has been demonstrated in patients

Objectives Assessment of the maternal complications in molecularly confirmed diandric and digynic triploid pregnancies. Methods Sonographic features, biochemical results, and clinical presentation were analyzed. Beta-hCG level was controlled after diandric triploidy. Results The study included nine diandric and twelve digynic triploid pregnancies at the mean gestational age at diagnosis of 14.9 and 18.0 weeks, respectively (p = 0.0391). Mean value of total-hCG was 979 703.6 U/ml in diandric cases and 5 455.4 U/ml in digynic ones (p Conclusions Maternal complications (except for vaginal bleeding) are associated with diandric triploidy. The relatively low incidence of hypertensive maternal complications and their less severe course in our cohort may be attributed to the earlier prenatal diagnosis. The frequency of GTN after diandric triploidy may be lower than previously reported.

The results of plasmochemical modification on Crofer 22APU ferritic stainless steel with a SiCxNy:H layer, as well as the impact of these processes on the increase in usability of the steel as intermediate-temperature solid oxide fuel cell (IT-SOFC), interconnects, are presented in this work. The layer was obtained using Radio-Frequency Plasma-Activated Chemical Vapor Deposition (RF PA CVD, 13.56 MHz) with or without the N+ ion modification process of the steel surface. To determine the impact of the surface modification on the steel’s resistance to high-temperature corrosion and on its mechanical properties, the chemical composition, atomic structure, and microstructure were investigated by means of IR spectroscopy, X-ray diffraction (XRD), scanning electron microscopy (SEM) and energy dispersive spectroscopy (EDS). Microhardness, Young’s modulus, wear rate, as well as electrical resistance, were also determined. Micromechanical experiments showed that the plasmochemical modification has a positive influence on the surface hardness and Young’s modulus of the investigated samples. High-temperature oxidation studies performed for the samples indicate that N+ ion modification prior to the deposition of the SiCxNy:H layer improves the corrosion resistance of Crofer 22APU steel modified via CVD. The area-specific resistance of the studied samples was 0.01 Ω·cm2, which is lower than that of bare steel after 500 h of oxidation at 1073 K. It was demonstrated that the deposition of the SiCxNy:H layer preceded by N+ ion modification yields the best properties.

In this work, sulfonated polyetheretherketone (S-PEEK)-based coatings, nanocrystalline ZnS and hydroxyapatite (n-HA) particles were developed on Zr-2.5Nb zirconium alloy substrates by electrophoretic deposition (EPD) combined with subsequent heat treatment. The properties of suspensions and deposition kinetics were studied. Cationic chitosan polyelectrolyte ensured the stabilization of the suspension and allowed for the co-deposition of all coating components on the cathode. The heating of the coated samples at a temperature of 450 °C and slow cooling resulted in sulfonation of the PEEK and the formation of dense coatings. The coatings were characterized by high roughness, hardness, modulus of elasticity and adhesion strength. The coatings revealed mild hydrophilicity, improved the electrochemical corrosion resistance of the alloy and induced the formation of hydroxyapatite with a cauliflower-like morphology on its surface during the Kokubo test. This work explored the great development potential of advanced sulfonated PEEK-based coatings, incorporating antibacterial and bioactive components by EPD combined with heat treatment to stimulate the surface properties of zirconium alloy for prospective dental and orthopedic applications. The antibacterial and osteoconductive properties of the obtained coatings should be further investigated.

Objective To analyse natural course and perinatal management in twin pregnancies discordant for digynic triploidy. Case report We present five cases of twins discordant for digynic triploidy. Pregnancy outcome was known for three of them. In one case, premature rupture of membranes occurred at 20 gestational weeks and both fetuses were miscarried. In two other pregnancies healthy co-twins were born at term after the triploid fetuses demise at 28 and 37 weeks. No maternal complications were observed. Conclusion Twin pregnancies discordant for triploidy poses a challenge for perinatal management. Expectant management should be considered in digynic triploid cases.

In this work, polyetheretherketone-based TiN/PEEK708 nanocomposite coatings on oxygen hardened Ti-6Al-4V titanium alloy substrates were fabricated by using cathodic electrophoretic deposition and post-heat treatment. The microstructure of coatings was investigated by using scanning electron microscopy, transmission electron microscopy, and X-ray diffractometry. The scratch resistance, tribological properties, and electrochemical corrosion resistance were also studied. The results show that homogeneous TiN/PEEK708 coatings may be deposited from ethanol-based suspensions containing cationic chitosan polyelectrolyte, which provides electrosteric stabilization of the suspension. Heat treatment densified the coatings and changed the PEEK structure from amorphous to semi-crystalline. The coatings were characterized by very good scratch resistance, with no cohesive and adhesive cracks being observed up to the load of 30 N. They reduced the coefficient of friction from 0.70 for the baseline alloy and 0.65 for the oxygen hardened alloy to 0.30. They also significantly increased the wear resistance of the alloy during dry sliding contact with an alumina ball. The wear rate of the coated oxygen hardened alloy was about 70 and 650 times lower in comparison with the oxygen hardened and baseline alloy, respectively. The corrosion studies demonstrated that the baseline and oxygen hardened alloy have comparable corrosion resistance. The TiN/PEEK708 coating enhanced the electrochemical corrosion resistance of the alloy in the NaCl aqueous solution.