Publications by authors named "Rafal Ploski"

The TRPM3 gene, part of the transient receptor potential (TRP) cation channel family, plays crucial roles in sensory perception and ion transport. Mutations in TRPM3 are linked to a range of neurological and developmental disorders. The c.

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Cryoglobulinemia is a rare disease characterized by the presence of cryoglobulins in the blood serum. It is usually caused by autoimmune, lymphoproliferative, or infectious factors. The pathogenesis of cryoglobulinemia is not well understood, therefore, genetic testing is very important.

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In the monosomy 1p36 deletion syndrome, the role of DNA methylation in the genomic stability of the 1p36 region remains elusive. We hypothesize that changes in the methylation pattern at the 1p36 breakpoint hotspot region influenced the chromosomal breakage leading to terminal deletions. From the monosomy 1p36 material collection, four cases with 4.

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There is increasing evidence of mitochondrial dysfunction in autism spectrum disorders (ASD), but the causal relationships are unclear. In an ASD patient whose identical twin was unaffected, we identified a postzygotic mosaic mutation p.Q639* in the TRAP1 gene, which encodes a mitochondrial chaperone of the HSP90 family.

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Introduction: Potassium ion channels play a crucial role in maintaining cellular electrical stability and are implicated in various epilepsies. Heterozygous pathogenic variants in KCNK4 cause a recognizable neurodevelopmental syndrome with facial dysmorphism, hypertrichosis, epilepsy, intellectual disability (ID), and gingival overgrowth (FHEIG). To date, no more than nine patients with FHEIG have been described worldwide and still little is known about epileptic phenotype in KCNK4-related disease.

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Article Synopsis
  • Genetic testing (GT) is crucial for diagnosing and managing cardiovascular diseases, as it helps predict outcomes, guide therapy, and prevent sudden cardiac death.
  • The position statement highlights the lack of GT availability in Poland, discussing its relevance for patients and their families, and proposing specific recommendations for improving access and practices.
  • The article emphasizes the need for legal reforms and better integration of cardiologists and clinical geneticists in GT processes to ensure patient rights and effective counseling.
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-related dilated cardiomyopathy (-DCM) caused by mutations in the lamin A/C gene () is one of the most common forms of hereditary DCM. Due to the high risk of mutation transmission to offspring and the high incidence of ventricular arrhythmia and sudden death even before the onset of heart failure symptoms, it is very important to identify -mutation carriers. However, many relatives of -DCM patients do not report to specialized centers for clinical or genetic screening.

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Article Synopsis
  • Genetic testing (GT) is vital in diagnosing and managing cardiovascular diseases, helping predict outcomes and preventing sudden cardiac death.
  • The document highlights the current lack of GT availability in Poland and aims to improve access and practice, while also addressing the genetic basis of various cardiovascular conditions.
  • Recommendations are provided for GT implementation, taking into account patient rights, legal regulations, and the roles of cardiologists and geneticists in care and counseling.
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  • - Idiopathic nephrotic syndrome is the most common chronic kidney disease in children, often treated successfully with steroids, but some cases resist treatment, leading to a condition called steroid-resistant nephrotic syndrome (SRNS), frequently linked to focal segmental glomerulosclerosis (FSGS).
  • - Genetic testing has emerged as a key method for diagnosing SRNS, helping identify genetic causes associated with the condition, particularly mutations affecting kidney function.
  • - A case study of a 17-year-old boy with epilepsy and developmental delays showed a specific genetic mutation linked to early-onset FSGS, suggesting that gene sequencing is important for diagnosing similar cases, especially when neurological symptoms are present.
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Introduction: Alexander disease (AxD) is a rare neurodegenerative condition that represents the group of leukodystrophies. The disease is caused by mutation. Symptoms usually occur in the infantile age with macrocephaly, developmental deterioration, progressive quadriparesis, and seizures as the most characteristic features.

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Background: In a population under 45 years of age, the predominant causes of sudden cardiac death (SCD) are inherited cardiac diseases. Determining the underlying cause may help identify relatives at risk and prevent further events but is more difficult if an autopsy has not been performed.

Aims: We aimed to assess the diagnostic value of clinical and genetic screening in relatives of young non-autopsied sudden unexplained death (SUD) victims.

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We present GeneBe, an online platform streamlining the automated application of American College of Medical Genetics and Genomics (ACMG), Association for Molecular Pathology (AMP), and the College of American Pathologists (CAP) criteria for assessment of pathogenicity of genetic variants. GeneBe utilizes automated algorithms that evaluate 17 criteria from 28, closely aligning with current guidelines and leveraging data from diverse sources, including ClinVar. The user-friendly web interface enables manual refinement of assignments for specific criteria based on site-collected data.

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Intellectual disability with speech delay and behavioural abnormalities, as well as hypotonia, seizures, feeding difficulties and craniofacial dysmorphism, are the main symptoms associated with pathogenic variants of the gene. The range of clinical manifestations of the ZMYND phenotype is constantly being expanded by new cases described in the literature. Here, we present two previously unreported paediatric patients with neurodevelopmental challenges, who were diagnosed with missense variants in the gene.

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A disease associated with malfunction of the MYH3 gene is characterised by scoliosis, contractures of the V fingers, knees and elbows, dysplasia of the calf muscles, foot deformity and limb length asymmetry. The aim of this study was to identify the cause of musculoskeletal deformities in a three-generation Polish family by exome sequencing. The segregation of the newly described c.

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While loss-of-function (LoF) variants in KCNQ2 are associated with a spectrum of neonatal-onset epilepsies, gain-of-function (GoF) variants cause a more complex phenotype that precludes neonatal-onset epilepsy. In the present work, the clinical features of three patients carrying a de novo KCNQ2 Y141N (n ​= ​1) or G239S variant (n ​= ​2) respectively, are described. All three patients had a mild global developmental delay, with prominent language deficits, and strong activation of interictal epileptic activity during sleep.

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WDR44 prevents ciliogenesis initiation by regulating RAB11-dependent vesicle trafficking. Here, we describe male patients with missense and nonsense variants within the WD40 repeats (WDR) of WDR44, an X-linked gene product, who display ciliopathy-related developmental phenotypes that we can model in zebrafish. The patient phenotypic spectrum includes developmental delay/intellectual disability, hypotonia, distinct craniofacial features and variable presence of brain, renal, cardiac and musculoskeletal abnormalities.

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Aims/hypothesis: Body niche-specific microbiota in maternal-neonatal dyads from gravidae with type 1 diabetes have not been quantitatively and functionally examined. Similarly, the impact of pregnancy-specific factors, such as the presence of comorbidities known to occur more frequently among gravidae with type 1 diabetes, including Caesarean delivery, as well as antibiotic prophylaxis, level of glycaemic control during each trimester of pregnancy and insulin administration, has not been adequately considered. The aims of this study were to characterise the maternal and neonatal microbiomes, assess aspects of microbiota transfer from the maternal microbiomes to the neonatal microbiome and explore the impact of type 1 diabetes and confounding factors on the microbiomes.

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Article Synopsis
  • Familial thoracic aortic aneurysms and dissections can either occur as standalone hereditary traits or as part of connective tissue disorders, but severe cases in children are quite rare.
  • A case study of a 5.5-year-old girl revealed she had an aortic aneurysm and polycystic kidney disease, leading to genetic testing that identified two pathogenic variants inherited from each parent.
  • The presence of both genetic variants in the girl is believed to contribute to her early onset of cardiovascular disease, with all adult carriers of these variants exhibiting symptoms of aortic disease.
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Background: Numerous prognostic factors have been proposed for cardiac amyloidosis (CA). The knowledge about other subtypes of restrictive cardiomyopathy (RCM) is scant.

Aims: This study aimed to elucidate the etiology and prognostic factors of RCM as well as assess cardiac biomarkers: high-sensitive troponin T (hs-TnT), growth differentiation factor-15 (GDF-15), N-terminal pro-B-type natriuretic peptide (NT-proBNP), and soluble suppression of tumorigenicity 2, as mortality predictors in RCM.

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Data obtained with the use of massive parallel sequencing (MPS) can be valuable in population genetics studies. In particular, such data harbor the potential for distinguishing samples from different populations, especially from those coming from adjacent populations of common origin. Machine learning (ML) techniques seem to be especially well suited for analyzing large datasets obtained using MPS.

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Article Synopsis
  • * Thirty-four patients were analyzed, revealing significant cardiovascular abnormalities, with nearly half experiencing major aortic events by age 35, including aortic dissections and surgeries.
  • * The findings highlight the need for early detection and management of cardiovascular complications in LDS patients, as well as associations between certain genetic variants and the severity of these events.
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Congenital alveolar dysplasia (CAD) belongs to rare lethal lung developmental disorders (LLDDs) in neonates, manifesting with acute respiratory failure and pulmonary arterial hypertension refractory to treatment. The majority of CAD cases have been associated with copy-number variant (CNV) deletions at 17q23.1q23.

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Esophageal atresia (EA) is the most common malformation of the upper gastrointestinal tract. The estimated incidence of EA is 1 in 3500 births. EA is more frequently observed in boys and in twins.

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