Prenatal evaluation of a fetus with trisomy 18 and additional balanced de novo Rob(13;14).

The main aim of this work is to present unusual case with full trisomy 18 and additional robertsonian translocation- Rob (13;14) detected through abnormalities found in prenatal ultrasound examination. A 26 years-old pregnant women with no family history of any reproductive failure underwent level II ultrasound screening in 19 weeks of gestation. Polyhydramnios, intrauterine growth retardation, hydrocephalus, enlarged lateral ventricles, club foot and cardiac defect were found. Amniocentesis was indicated considering the high likelihood of a chromosomal aberration. Abnormal karyotype was detected 46, XY, der(13;14)(q10;q10), +18. Karyotypes of parents were normal, what confirmed de novo origin of this aberration. Pregnancy was terminated. In postnatal examination fetus demonstrated intrauterine groth retardation and a lot of dysmorphic features characteristic for trisomy 18: microcephaly, prominent occiput, very low set and posteriorly rotated ears, hypertelorism, small mouth, small recessed mandible, a high narrow palate, broad nasal bridge, low-set ears, preauricilar skin appendage, clenched fingers clinodactyly of Vth fingers and club foot. In conclusion it is worth to say that our described fetus demonstrated rather typical for trisomy 18 ultrasonographic features. Balanced Rob (13;14) gives no phenotypic expression. Possible interchromosomal effect in complex chromosomal aberration formation such as Rob (13;14) with trisomy 18 was discussed

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability syndrome first described in 2014 with a report of 13 individuals with constitutive heterozygous DNMT3A variants. Here we have undertaken a detailed clinical study of 55 individuals with de novoDNMT3A variants, including the 13 previously reported individuals. An intellectual disability and overgrowth were reported in >80% of individuals with TBRS and were designated major clinical associations. Additional frequent clinical associations (reported in 20-80% individuals) included an evolving facial appearance with low-set, heavy, horizontal eyebrows and prominent upper central incisors; joint hypermobility (74%); obesity (weight ³2SD, 67%); hypotonia (54%); behavioural/psychiatric issues (most frequently autistic spectrum disorder, 51%); kyphoscoliosis (33%) and afebrile seizures (22%). One individual was diagnosed with acute myeloid leukaemia in teenage years. Based upon the results from this study, we present our current management for individuals with TBRS

Primrose syndrome: Characterization of the phenotype in 42 patients

Primrose syndrome (PS; MIM# 259050) is characterized by intellectual disability (ID), macrocephaly, unusual facial features (frontal bossing, deeply set eyes, down-slanting palpebral fissures), calcified external ears, sparse body hair and distal muscle wasting. The syndrome is caused by de novo heterozygous missense variants in ZBTB20. Most of the 29 published patients are adults as characteristics appear more recognizable with age. We present 13 hitherto unpublished individuals and summarize the clinical and molecular findings in all 42 patients. Several signs and symptoms of PS develop during childhood, but the cardinal features, such as calcification of the external ears, cystic bone lesions, muscle wasting, and contractures typically develop between 10 and 16 years of age. Biochemically, anemia and increased alpha-fetoprotein levels are often present. Two adult males with PS developed a testicular tumor. Although PS should be regarded as a progressive entity, there are no indications that cognition becomes more impaired with age. No obvious genotype-phenotype correlation is present. A subgroup of patients with ZBTB20 variants may be associated with mild, nonspecific ID. Metabolic investigations suggest a disturbed mitochondrial fatty acid oxidation. We suggest a regular surveillance in all adult males with PS until it is clear whether or not there is a truly elevated risk of testicular cancer.This article is freely available via Open Access. Click on the Publisher URL to access it via the publisher's site.published version, accepted version (12 month embargo) submitted versio

The corrosion influence on using of metal matrix composites brake discs

W artykule omówiono wpływ korozji na właściwości tribologiczne materiału kompozytowego F3S.20S (AC-AlSi9Mg0,5+20%mSiC) współpracującego z tradycyjnym materiałem stosowanym na okładziny cierne hamulców tarczowych (F701). W celu sprawdzenia zachowania kompozytu stosowanego do wytwarzania tarcz hamulcowych pojazdów samochodowych w warunkach korozji atmosferycznej wykonano badania tribologiczne na testerze laboratoryjnym, a następnie porównano je z wynikami badań przeprowadzonych w takich samych warunkach eksperymentalnych dla tarcz hamulcowych wykonanych z żeliwa szarego z grafitem płatkowym (GJL 350). Przyjęto czas ekspozycji próbek na środowisko korozyjne 0, 48 i 240 godzin. Wyniki badań pozwoliły określić wpływ korozji, obciążenia i prędkości współpracy na współczynnik tarcia oraz zużycie współpracujących części.In this article an influence of corrosion on tribologial properties of composite material F3S.20S (A359+20%mSiC) mated with material used in production of brake pads (F701) has been studied. In order to define the influence of the used composite on utility features of brakes, the research results were compared with the ones received in the same experimental conditions for the brake discs made of grey cast iron with flake graphite. The time of the exposition of the counter-samples to the corrosion environment has been accepted as 0, 48 and 240 hours. Tests have been performed on a pin-on-disc apparatus, according to the Hartley’s plan of experiment. Their results have been used to determine the influence of pressure, sliding velocity and time of exposition on corrosion on friction coefficient and mass loss of the rubbing materials Obtained dependences have been described with quadratic functions and presented on 3D graphs, Fig. 2 and 3. Composite was characterised with considerably lower susceptibility to changes of the value of friction factor (0.25-0.32) in comparison to grey cast iron (0.2-0.6). Its wear was also several times lower than of the traditional material