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Article ; Online: Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV—A Review and Case Series

Aleksandra Jezela-Stanek / Elżbieta Ciara / Karolina M. Stepien

International Journal of Molecular Sciences, Vol 21, Iss 4564, p

2020 Volume 4564

Abstract: Mucolipidosis type IV (MLIV) is an ultra-rare lysosomal storage disorder caused by biallelic mutations in MCOLN1 gene encoding the transient receptor potential channel mucolipin-1. So far, 35 pathogenic or likely pathogenic MLIV-related variants have ... ...

Abstract	Mucolipidosis type IV (MLIV) is an ultra-rare lysosomal storage disorder caused by biallelic mutations in MCOLN1 gene encoding the transient receptor potential channel mucolipin-1. So far, 35 pathogenic or likely pathogenic MLIV-related variants have been described. Clinical manifestations include severe intellectual disability, speech deficit, progressive visual impairment leading to blindness, and myopathy. The severity of the condition may vary, including less severe psychomotor delay and/or ocular findings. As no striking recognizable facial dysmorphism, skeletal anomalies, organomegaly, or lysosomal enzyme abnormalities in serum are common features of MLIV, the clinical diagnosis may be significantly improved because of characteristic ophthalmological anomalies. This review aims to outline the pathophysiology and genetic defects of this condition with a focus on the genotype–phenotype correlation amongst cases published in the literature. The authors will present their own clinical observations and long-term outcomes in adult MLIV cases.
Keywords	mucolipidosis type IV ; MCOLN1 ; corneal clouding ; gastrin ; myopathy ; neurodegenerative ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
Subject code	610
Language	English
Publishing date	2020-06-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: DCDC2 -Related Ciliopathy

Patryk Lipiński / Elżbieta Ciara / Dorota Jurkiewicz / Magda Mekrouda / Joanna Cielecka-Kuszyk / Elżbieta Jurkiewicz / Rafał Płoski / Joanna Pawłowska / Irena Jankowska

Diagnostics, Vol 13, Iss 1917, p

Report of Six Polish Patients, Novel DCDC2 Variant, and Literature Review of Reported Cases

2023 Volume 1917

Abstract: Introduction: The increasing usage of NGS technology has enabled the discovery of new causal genes in ciliopathies, including the DCDC2 gene. The aim of our study was to present the clinical, pathological and molecular report of six patients (from three ... ...

Abstract	Introduction: The increasing usage of NGS technology has enabled the discovery of new causal genes in ciliopathies, including the DCDC2 gene. The aim of our study was to present the clinical, pathological and molecular report of six patients (from three unrelated families) with DCDC2 biallelic pathogenic variants. A detailed overview of the reported patients with DCDC2 -related disease was provided. Material and methods: A retrospective chart review of the clinical, biochemical, pathological (liver histology) and molecular features of the study group was performed. The database PubMed (MEDLINE) was searched for relevant studies. Results: All the patients presented with cholestatic jaundice and elevated GGT; the mean age was 2 months. The initial liver biopsy was performed in four children at a mean age of 3 months (age range: 2–5 months). In all of them, features of cholestasis, portal fibrosis and mild portal inflammation were observed; in three of them ductular proliferation was observed. One patient had undergone liver transplantation (LTx) at 8 years of age. At hepatectomy, a biliary-pattern cirrhosis was observed. Only one patient presented with features of renal disease. Whole exome sequencing was performed in all patients at the last follow-up visit (mean age 10 years). Three different variants (one novel) in the DCDC2 gene were identified in the study group. With our six patients, a total of 34 patients with DCDC2 -related hepatic ciliopathy were identified. The main clinical presentation of DCDC2 -related ciliopathy was liver disease in the form of neonatal sclerosing cholangitis. The predominance of early and severe liver disease associated with no or mildly expressed kidney involvement was observed. Conclusions: Our findings expand the molecular spectrum of pathogenic DCDC2 variants, provide a more accurate picture of the phenotypic expression associated with molecular changes in this gene and confirm a loss of functional behaviour as the mechanism of disease.
Keywords	ciliopathy ; DCDC2 ; cholestasis ; liver transplantation ; next generation sequencing ; Medicine (General) ; R5-920
Subject code	610
Language	English
Publishing date	2023-05-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: DNA methylation as an epigenetic biomarker in imprinting disorders

Dorota Jurkiewicz / Elżbieta Ciara / Małgorzata Krajewska-Walasek / Krystyna Chrzanowska

Postępy Higieny i Medycyny Doświadczalnej, Vol 74, Pp 532-

2020 Volume 540

Abstract: Epigenetic modifications control gene expression and enable the same genotype to lead to various phenotypes, thus exhibiting extensive variability in human cells function. DNA methylation is one of the most often investigated epigenetic modifications, ... ...

Abstract	Epigenetic modifications control gene expression and enable the same genotype to lead to various phenotypes, thus exhibiting extensive variability in human cells function. DNA methylation is one of the most often investigated epigenetic modifications, playing a key part in genomic imprinting. Genomic imprinting is an epigenetic process by which the male and the female germ cells confer specific marks (imprints). Maternal chromatin marks differ from paternal ones, leading to expression of specific genes from only one allele. Disturbance in imprinting process results in epimutations, which are epigenetic defects, including DNA methylation changes. These abnormalities are identified in a group of imprinting disorders, associated with abnormal growth, development, behaviour and metabolism. Epimutations can occur spontaneously without any accompanying variant in DNA genomic sequence (a primary epimutation), whose defect can be a result of environmental factors. They can also be caused by changes in DNA sequence of genes involved in imprinting process (a secondary epimutation). DNA methylation in imprinting control regions is a very useful epigenetic biomarker and its detection is applied in the diagnostics of imprinting disorders. At present, various techniques for DNA methylation analysis are employed, which allow for investigations of one to several imprinted loci or the whole genome. DNA methylation studies are important not only in medical molecular diagnostics but are crucial in the search for therapies that would restore normal epigenetic status in patients.
Keywords	DNA methylation ; epigenetic marker ; genomic imprinting ; imprinting disorders ; Medicine ; R
Subject code	570
Language	English
Publishing date	2020-12-01T00:00:00Z
Publisher	Sciendo
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation

Patryk Lipiński / Karolina M. Stępień / Elżbieta Ciara / Anna Tylki-Szymańska / Aleksandra Jezela-Stanek

Diagnostics, Vol 11, Iss 1438, p

Review

2021 Volume 1438

Abstract: Congenital disorders of glycosylation (CDGs) are a heterogeneous group of disorders with impaired glycosylation of proteins and lipids. These conditions have multisystemic clinical manifestations, resulting in gradually progressive complications ... ...

Abstract	Congenital disorders of glycosylation (CDGs) are a heterogeneous group of disorders with impaired glycosylation of proteins and lipids. These conditions have multisystemic clinical manifestations, resulting in gradually progressive complications including skeletal involvement and reduced bone mineral density. Contrary to PMM2-CDG, all remaining CDG, including ALG12-CDG, ALG3-CDG, ALG9-CDG, ALG6-CDG, PGM3-CDG, CSGALNACT1-CDG, SLC35D1-CDG and TMEM-165, are characterized by well-defined skeletal dysplasia. In some of them, prenatal-onset severe skeletal dysplasia is observed associated with early death. Osteoporosis or osteopenia are frequently observed in all CDG types and are more pronounced in adults. Hormonal dysfunction, limited mobility and inadequate diet are common risk factors for reduced bone mineral density. Skeletal involvement in CDGs is underestimated and, thus, should always be carefully investigated and managed to prevent fractures and chronic pain. With the advent of new therapeutic developments for CDGs, the severity of skeletal complications may be reduced. This review focuses on possible mechanisms of skeletal manifestations, risk factors for osteoporosis, and bone markers in reported paediatric and adult CDG patients.
Keywords	congenital disorder of glycosylation ; growth ; skeletal dysplasia ; cartilage ; joint ; bone markers ; Medicine (General) ; R5-920
Subject code	610
Language	English
Publishing date	2021-08-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Progressive familial intrahepatic cholestasis type 3

Patryk Lipiński / Elżbieta Ciara / Dorota Jurkiewicz / Rafał Płoski / Marta Wawrzynowicz-Syczewska / Joanna Pawłowska / Irena Jankowska

Annals of Hepatology, Vol 25, Iss , Pp 100342- (2021)

Report of four clinical cases, novel ABCB4 variants and long-term follow-up

2021

Abstract: Introduction and objectives: Progressive familial intrahepatic cholestasis type 3 (PFIC-3) is a rare autosomal recessive cholestatic liver disorder caused by mutations in the ABCB4 gene. The aim of this study was to present the phenotypic and genotypic ... ...

Abstract	Introduction and objectives: Progressive familial intrahepatic cholestasis type 3 (PFIC-3) is a rare autosomal recessive cholestatic liver disorder caused by mutations in the ABCB4 gene. The aim of this study was to present the phenotypic and genotypic spectrum of 4 Polish PFIC-3 patients diagnosed in a one-referral centre. Materials and methods: The study included 4 patients with cholestasis and pathogenic variants in the ABCB4 gene identified by next-generation sequencing (NGS) of a targeted-gene panel or whole exome sequencing (WES). Clinical, laboratory, histological, and molecular data were collected. Results: Four patients (three males) were identified. The age at first noted clinical signs and symptoms was 6, 2.5, 14, and 2 years respectively; the mean age was 6 years. Those signs and symptoms include pruritus (2 out of 4 patients) and hepatomegaly with splenomegaly (4 out of 4 patients). The age at the time of referral to our centre was 9, 3, 15, and 2.5 years respectively, while the mean age was 7 years. Chronic cholestatic liver disease of unknown aetiology was established in all of them. The NGS analysis was performed in all patients at the last follow-up visit. Three novel variants including c.902T>A, p.Met301Lys, c.3279+1G>A, p.?, and c.3524T>A, p.Leu1175His were identified. The time from the first consultation to the final diagnosis was 14, 9, 3, and 1 year respectively; the mean was 6.8 years. A detailed follow-up was presented. Conclusions: The clinical phenotype of PFIC-3 could be variable. The clinical and biochemical diagnosis of PFIC-3 is difficult, thus the NGS study is very useful in making a proper diagnosis.
Keywords	Cholestasis ; Progressive familial intrahepatic cholestasis ; Next-generation sequencing ; Liver transplantation ; Children ; Specialties of internal medicine ; RC581-951
Subject code	610
Language	English
Publishing date	2021-11-01T00:00:00Z
Publisher	Elsevier
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Serum very long-chain fatty acids (VLCFA) levels as predictive biomarkers of diseases severity and probability of survival in peroxisomal disorders

Teresa Joanna Stradomska / Małgorzata Syczewska / Ewa Jamroz / Agata Pleskaczyńska / Piotr Kruczek / Elżbieta Ciara / Anna Tylki-Szymanska / Metodi D Metodiev

PLoS ONE, Vol 15, Iss

2020 Volume 9

Abstract: Peroxisomal disorders (PD) are a heterogeneous group of rare diseases caused by a defect in peroxisome biogenesis or a disruption of a peroxisomal function at a single enzyme or at transporter level. The main biochemical markers for PD are very long- ... ...

Abstract	Peroxisomal disorders (PD) are a heterogeneous group of rare diseases caused by a defect in peroxisome biogenesis or a disruption of a peroxisomal function at a single enzyme or at transporter level. The main biochemical markers for PD are very long-chain fatty acids (VLCFA). The aim of the study was to investigate the correlation of basic diagnostic parameter, i.e. VLCFA, with disease severity, determined through the survival time. We performed a retrospective study in patients with PD (n = 31; aged 1 week—21 years). Evaluation of VLCFA results from patients were as follows: 15 patients with classical Zellweger syndrome (ZS), 3 patients with mild outcome of ZS, 9 individuals with D-Bifunctional Protein Deficiency (DBP), and no specified results in the case of 4 patients. Patients with classical ZS had higher VLCFA levels, compared to individuals with mild form of ZS and also to patients with DBP; for C26:0/C22:0: 0.65±0.18; 0.11±0.09; 0.30±0.13 (P < 0.001) and for C26:0: 5.20±1.78; 0.76±0.46; 2.61±0.97[mg/mL] (P < 0.001) respectively. The only variable parameter, i.e. the one that determines the survival time of patients, was C26:0 (Chi2 = 19,311, P < 0.0001). Correlation coefficient between survival time and C26:0 level was statistically significant (r = -0.762), and the results showed that high levels of C26:0 were associated with short survival time. Conclusion VLCFA levels correlate with the severity of the clinical course of ZS, DBP and mild ZSD. The best predictive value for estimating the projected disease severity and survival time is a concentration of C26:0.
Keywords	Medicine ; R ; Science ; Q
Subject code	610
Language	English
Publishing date	2020-01-01T00:00:00Z
Publisher	Public Library of Science (PLoS)
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Serum very long-chain fatty acids (VLCFA) levels as predictive biomarkers of diseases severity and probability of survival in peroxisomal disorders.

Teresa Joanna Stradomska / Małgorzata Syczewska / Ewa Jamroz / Agata Pleskaczyńska / Piotr Kruczek / Elżbieta Ciara / Anna Tylki-Szymanska

PLoS ONE, Vol 15, Iss 9, p e

2020 Volume 0238796

Abstract: Conclusion VLCFA levels correlate with the severity of the clinical course of ZS, DBP and mild ZSD. The best predictive value for estimating the projected disease severity and survival time is a concentration of C26:0. ...

Abstract	Conclusion VLCFA levels correlate with the severity of the clinical course of ZS, DBP and mild ZSD. The best predictive value for estimating the projected disease severity and survival time is a concentration of C26:0.
Keywords	Medicine ; R ; Science ; Q
Language	English
Publishing date	2020-01-01T00:00:00Z
Publisher	Public Library of Science (PLoS)
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Early treatment of biotin–thiamine–responsive basal ganglia disease improves the prognosis

Dorota Wesół-Kucharska / Milena Greczan / Magdalena Kaczor / Magdalena Pajdowska / Dorota Piekutowska-Abramczuk / Elżbieta Ciara / Paulina Halat-Wolska / Paweł Kowalski / Elżbieta Jurkiewicz / Dariusz Rokicki

Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100801- (2021)

2021

Abstract: Background: Biotin–thiamine–responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder associated with pathogenic variants in SLC19A3 gene. The clinical picture includes symptoms of subacute encephalopathy (e.g. confusion, ...

Abstract	Background: Biotin–thiamine–responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder associated with pathogenic variants in SLC19A3 gene. The clinical picture includes symptoms of subacute encephalopathy (e.g. confusion, dysphagia, dysarthria, and seizures), which respond very well to early treatment with thiamine and biotin. Method: A retrospective review of clinical characteristics, magnetic resonance imaging and molecular findings in 3 patients with BTBGD. Results: The first symptoms in all patients occurred at 12–24 months of age and they had subacute encephalopathy, ataxia and dystonia. The baseline magnetic resonance imaging demonstrated abnormal signal intensity in the basal ganglia with atrophy and necrosis of the basal ganglia during follow-up in two patients. One patient was diagnosed and the treatment was initiated after a long period from symptoms onset and he is currently severely affected, with dystonia, quadriparesis and seizures. The other two patients were diagnosed early in life and are currently stable on treatment, without the clinical symptoms. Genetic testing demonstrated pathogenic variants in SLC19A3 gene. Conclusion: To avoid diagnostic errors and delayed or incorrect treatment, BTBGD must be recognized early. Adequate prompt treatment gives the chance of significant clinical improvement. Unexplained encephalopathy and MRI abnormalities including bilateral abnormal signal in the basal ganglia should alert the clinician to consider BTBGD in the differential, and the treatment with biotin and thiamine should be introduced immediately.
Keywords	SLC19A3 ; BTBGD ; Biotin ; Thiamine ; Second thiamine-transporter ; hThTr2 ; Medicine (General) ; R5-920 ; Biology (General) ; QH301-705.5
Subject code	610 ; 616
Language	English
Publishing date	2021-12-01T00:00:00Z
Publisher	Elsevier
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: POLG gene mutation. Clinico-neuropathological study

Sylwia Tarka / Milena Laure-Kamionowska / Teresa Wierzba-Bobrowicz / Katarzyna Witulska / Elżbieta Ciara / Krystyna Szymańska / Paweł Krajewski / Tomasz Stępień / Albert Acewicz / Paulina Felczak

Folia Neuropathologica, Vol 58, Iss 4, Pp 386-

2021 Volume 392

Abstract: We present a female patient with a mutation of the POLG gene (POLG DNA polymerase gamma, catalytic subunit; *174763) in which the clinical course suggested a mitochondrial disease, a neuropathological examination identified the syndrome more closely, and ...

Abstract	We present a female patient with a mutation of the POLG gene (POLG DNA polymerase gamma, catalytic subunit; *174763) in which the clinical course suggested a mitochondrial disease, a neuropathological examination identified the syndrome more closely, and a genetic test confirmed the disease. Apart from the morphological lesions typical of Alpers-Huttenlocher syndrome, rarely observed symmetrical degenerative changes in the accessory olivary nuclei were found. It was unusual in the clinical course of the disease that pancreatitis was diagnosed before symptoms of liver failure appeared.
Keywords	polg-mutation ; alpers-huttenlocher syndrome ; acute pancreatitis ; medial accessory olivary nuclei ; Medicine ; R
Language	English
Publishing date	2021-01-01T00:00:00Z
Publisher	Termedia Publishing House
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: The Indices of Cardiovascular Magnetic Resonance Derived Atrial Dynamics May Improve the Contemporary Risk Stratification Algorithms in Children with Hypertrophic Cardiomyopathy

Lidia Ziółkowska / Łukasz Mazurkiewicz / Joanna Petryka / Monika Kowalczyk-Domagała / Agnieszka Boruc / Katarzyna Bieganowska / Elżbieta Ciara / Dorota Piekutowska-Abramczuk / Mateusz Śpiewak / Jolanta Miśko / Magdalena Marczak / Grażyna Brzezińska-Rajszys

Journal of Clinical Medicine, Vol 10, Iss 4, p

2021 Volume 650

Abstract: Introduction: The most efficient risk stratification algorithms are expected to deliver robust and indefectible identification of high-risk children with hypertrophic cardiomyopathy (HCM). Here we compare algorithms for risk stratification in primary ... ...

Abstract	Introduction: The most efficient risk stratification algorithms are expected to deliver robust and indefectible identification of high-risk children with hypertrophic cardiomyopathy (HCM). Here we compare algorithms for risk stratification in primary prevention in HCM children and investigate whether novel indices of biatrial performance improve these algorithms. Methods and Results: The endpoints were defined as sudden cardiac death, resuscitated cardiac arrest, or appropriate implantable cardioverter-defibrillator discharge. We examined the prognostic utility of classic American College of Cardiology/American Heart Association (ACC/AHA) risk factors, the novel HCM Risk-Kids score and the combination of these with indices of biatrial dynamics. The study consisted of 55 HCM children (mean age 12.5 ± 4.6 years, 69.1% males); seven had endpoints (four deaths, three appropriate ICD discharges). A strong trend (DeLong p = 0.08) was observed towards better endpoint identification performance of the HCM Risk-Kids Model compared to the ACC/AHA strategy. Adding the atrial conduit function component significantly improved the prediction capabilities of the AHA/ACC Model (DeLong p = 0.01) and HCM Risk-Kids algorithm (DeLong p = 0.04). Conclusions: The new HCM Risk-Kids individualised algorithm and score was capable of identifying high-risk children with very good accuracy. The inclusion of one of the atrial dynamic indices improved both risk stratification strategies.
Keywords	hypertrophic cardiomyopathy ; atrial strain ; outcome ; risk markers ; Medicine ; R
Subject code	610
Language	English
Publishing date	2021-02-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
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