Anna Skalniak
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View article: Calcitonin and procalcitonin measurement after cholecystokinin-2/gastrin receptor agonist stimulation in patients with advanced medullary thyroid cancer: results from the GRAN-T-MTC study
Calcitonin and procalcitonin measurement after cholecystokinin-2/gastrin receptor agonist stimulation in patients with advanced medullary thyroid cancer: results from the GRAN-T-MTC study Open
Procalcitonin concentrations after CP04 stimulation were highly correlated with calcitonin concentrations. Unlabeled CP04, if available commercially, may be considered an alternative stimulating agent in MTC patients, even in lower mass am…
View article: 8723 Glucose Metabolism Disturbances in Non-Classic Adrenal Hyperplasia (NCAH)
8723 Glucose Metabolism Disturbances in Non-Classic Adrenal Hyperplasia (NCAH) Open
Disclosure: B. Domagała: None. A. Gamrat: None. A. Skalniak: None. E. Przybylik-Mazurek(†): None. M. Trofimiuk-Muldner: None. A. Hubalewska-Dydejczyk: None. Introduction: There is data reporting an increased risk of cardiovascular and meta…
View article: 8723 Glucose Metabolism Disturbances in Non-Classic Adrenal Hyperplasia (NCAH)
8723 Glucose Metabolism Disturbances in Non-Classic Adrenal Hyperplasia (NCAH) Open
Disclosure: B. Domagała: None. A. Gamrat: None. A. Skalniak: None. E. Przybylik-Mazurek(†): None. M. Trofimiuk-Muldner: None. A. Hubalewska-Dydejczyk: None. Introduction: There is data reporting an increased risk of cardiovascular and meta…
View article: Substrate Affinity Is Not Crucial for Therapeutic L-Asparaginases: Antileukemic Activity of Novel Bacterial Enzymes
Substrate Affinity Is Not Crucial for Therapeutic L-Asparaginases: Antileukemic Activity of Novel Bacterial Enzymes Open
L-asparaginases are used in the treatment of acute lymphoblastic leukemia. The aim of this work was to compare the antiproliferative potential and proapoptotic properties of novel L-asparaginases from different structural classes, viz. EcA…
View article: Whole-Exome Screening and Analysis of Signaling Pathways in Multiple Endocrine Neoplasia Type 1 Patients with Different Outcomes: Insights into Cellular Mechanisms and Possible Functional Implications
Whole-Exome Screening and Analysis of Signaling Pathways in Multiple Endocrine Neoplasia Type 1 Patients with Different Outcomes: Insights into Cellular Mechanisms and Possible Functional Implications Open
Multiple endocrine neoplasia type 1 (MEN1) is a syndrome characterized by tumors in multiple organs. Although being a dominantly inherited monogenic disease, disease phenotypes are unpredictable and differ even among members of the same fa…
View article: Immunological routine laboratory parameters at admission influence the improvement of positive symptoms in schizophrenia patients after pharmacological treatment
Immunological routine laboratory parameters at admission influence the improvement of positive symptoms in schizophrenia patients after pharmacological treatment Open
Introduction The standard care of schizophrenia patients is based on the assessment of their psychotic behavior, using interview-based, subjective scales that measure symptoms severity. We aimed at defining easily accessible and inexpensiv…
View article: Whole-exome sequencing as a tool for searching for genetic background modifiers in MEN1 patients with neuroendocrine pancreatic tumours, including insulinomas
Whole-exome sequencing as a tool for searching for genetic background modifiers in MEN1 patients with neuroendocrine pancreatic tumours, including insulinomas Open
Our results show the existence of pathways that are identified in a non-literature-predefined manner, which might have a modifying function in MEN1, differentiating the specific clinical outcomes. Those results, although preliminary, provi…
View article: AIP gene germline variants in adult Polish patients with apparently sporadic pituitary macroadenomas
AIP gene germline variants in adult Polish patients with apparently sporadic pituitary macroadenomas Open
Introduction Up to 5% of all pituitary tumors are hereditary e.g. due to MEN1 or aryl hydrocarbon receptor-interacting protein ( AIP ) genes mutations. Objectives The study was aimed at the assessment of the frequency and characteristics o…
View article: The Association of the Oral Microbiota with the Effects of Acid Stress Induced by an Increase of Brain Lactate in Schizophrenia Patients
The Association of the Oral Microbiota with the Effects of Acid Stress Induced by an Increase of Brain Lactate in Schizophrenia Patients Open
The altered cerebral energy metabolism central to schizophrenia can be linked to lactate accumulation. Lactic acid is produced by gastrointestinal bacteria, among others, and readily crosses the blood–brain barrier, leading to the brain ac…
View article: PSAT384 Familial Non-Medullary Thyroid Cancer — Does The Number Of Alanine Residues In The FOXE1 Gene Play A Role?
PSAT384 Familial Non-Medullary Thyroid Cancer — Does The Number Of Alanine Residues In The FOXE1 Gene Play A Role? Open
Familial non-medullary thyroid cancer (FNMTC) constitutes about 3–9% of all thyroid cancers. One of the genes believed to predispose to non-syndromic FNMTC is FOXE1. It contains a polyalanine tract (polyAla) with a variable number (11–22) …
View article: Prevalence of Selected Single-Nucleotide Variants in Patients with Neuroendocrine Tumors—Potential Clinical Relevance
Prevalence of Selected Single-Nucleotide Variants in Patients with Neuroendocrine Tumors—Potential Clinical Relevance Open
Introduction: The genetic basis of neuroendocrine tumors (NETs), whose incidence is continuously increasing, is still not fully defined. The majority of NETs are sporadic, and only a small percentage occur as part of hereditary genetic syn…
View article: Modifier Role of Common RET Variants in Sporadic Medullary Thyroid Carcinoma
Modifier Role of Common RET Variants in Sporadic Medullary Thyroid Carcinoma Open
Background: Although the disease-causing effect of pathogenic variants in the gene RET has been unambiguously identified, there is a lack of consensus regarding the possible impact of common variants in this gene. Our study aimed to test w…
View article: A rare case of aggressive, hereditary paraganglioma associated with a pathogenic variant in SDHD
A rare case of aggressive, hereditary paraganglioma associated with a pathogenic variant in SDHD Open
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View article: What Cut-off Value of 17-Hydroxyprogesterone Should Be an Indication to Perform a 250 µg Cosyntropin Stimulation Test When NCCAH Is Suspected? - a Retrospective Study
What Cut-off Value of 17-Hydroxyprogesterone Should Be an Indication to Perform a 250 µg Cosyntropin Stimulation Test When NCCAH Is Suspected? - a Retrospective Study Open
The Nonclassic Congenital Adrenal Hyperplasia (NCCAH) is a less severe form of CAH in which the activity of the 21-hydroxylase is estimated at about 20% to 50%. Cosyntropin stimulation test is the gold diagnostic standard used to test for …
View article: Determinants of Schizophrenia Endophenotypes Based on Neuroimaging and Biochemical Parameters
Determinants of Schizophrenia Endophenotypes Based on Neuroimaging and Biochemical Parameters Open
Despite extensive research, there is no convincing evidence of a reliable diagnostic biomarker for schizophrenia beyond clinical observation. Disorders of glutamatergic neurotransmission associated with N-methyl-D-aspartate (NMDA) receptor…
View article: Heterogeneity of the Clinical Presentation of the MEN1 LRG_509 c.781C>T (p.Leu261Phe) Variant Within a Three-Generation Family
Heterogeneity of the Clinical Presentation of the MEN1 LRG_509 c.781C>T (p.Leu261Phe) Variant Within a Three-Generation Family Open
Multiple neuroendocrine neoplasia type 1 (MEN1) is a rare genetic disorder with an autosomal dominant inheritance, predisposing carriers to benign and malignant tumors. The phenotype of MEN1 syndrome varies between patients in terms of tum…
View article: Acromegaly and late-onset primary hyperparathyroidism in a female with a rare MEN1 gene variant of yet undetermined clinical significance (p.Val167Ala)
Acromegaly and late-onset primary hyperparathyroidism in a female with a rare MEN1 gene variant of yet undetermined clinical significance (p.Val167Ala) Open
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View article: MON-300 AIP Gene Germline Mutations in Non-Selected Patients with Apparently Sporadic Pituitary Macrodenomas
MON-300 AIP Gene Germline Mutations in Non-Selected Patients with Apparently Sporadic Pituitary Macrodenomas Open
Up to 5% of all pituitary tumors are hereditary (e.g. due to menin or AIP genes germline mutations). AIP gene mutations are more common in subjects with acromegaly, less than 30 years old at the onset of disease, and with FIPA family histo…
View article: Contribution of a Novel B3GLCT Variant to Peters Plus Syndrome Discovered by a Combination of Next-Generation Sequencing and Automated Text Mining
Contribution of a Novel B3GLCT Variant to Peters Plus Syndrome Discovered by a Combination of Next-Generation Sequencing and Automated Text Mining Open
Anterior segment dysgenesis (ASD) encompasses a spectrum of ocular disorders affecting the structures of the anterior eye chamber. Mutations in several genes, involved in eye development, are implicated in this disorder. ASD is often accom…
View article: Pituitary tumours in MEN1 syndrome — the new insight into the diagnosis and treatment
Pituitary tumours in MEN1 syndrome — the new insight into the diagnosis and treatment Open
Pituitary tumours are a common pathology affecting 15-20% of the population. Only about 1‰ of adenomas are clinically manifested; among them, about two/thirds are hormonally active, most often secreting prolactin or growth hormone. Pituita…
View article: MON-013 Nutritional Approach To Autoimmune Thyroiditis (AIT) - The Patients’ And Medical Professionals’ View.
MON-013 Nutritional Approach To Autoimmune Thyroiditis (AIT) - The Patients’ And Medical Professionals’ View. Open
An increasing interest in improving the quality of life of patients with autoimmune thyroid disorders has been noted during recent years. Although there is little scientific evidence, many patient-oriented publications, websites and suppor…
View article: Prolonged Idasanutlin (RG7388) Treatment Leads to the Generation of p53-Mutated Cells
Prolonged Idasanutlin (RG7388) Treatment Leads to the Generation of p53-Mutated Cells Open
The protein p53 protects the organism against carcinogenic events by the induction of cell cycle arrest and DNA repair program upon DNA damage. Virtually all cancers inactivate p53 either by mutations/deletions of the TP53 gene or by boost…
View article: Relationship between Pyruvate Kinase Activity and Cariogenic Biofilm Formation in Streptococcus mutans Biotypes in Caries Patients
Relationship between Pyruvate Kinase Activity and Cariogenic Biofilm Formation in Streptococcus mutans Biotypes in Caries Patients Open
Streptococcus mutans (MS) and its biotype I are the strains most frequently found in dental plaque of young children. Our results indicate that in children pyruvate kinase (PK) activity increases significantly in dental plaque, and this co…
View article: The role of the saliva antioxidant barrier to reactive oxygen species with regard to caries development
The role of the saliva antioxidant barrier to reactive oxygen species with regard to caries development Open
Our results indicate that the high levels of antioxidants in saliva increase significantly in children in line with the salivary cariogenic bacterial profiles and caries progression.
View article: A novel in-frame deletion in MEN1 (p.Ala416del) causes familial multiple endocrine neoplasia type 1 with an aggressive phenotype and unexpected inheritance pattern
A novel in-frame deletion in MEN1 (p.Ala416del) causes familial multiple endocrine neoplasia type 1 with an aggressive phenotype and unexpected inheritance pattern Open
The present study describes a family with multiple endocrine neoplasia type 1 (MEN1) caused by a previously undescribed in-frame deletion c.1246_1248delGCC (Ala416del) in the MEN1 gene. Evidence for the pathogenic character of this mutatio…
View article: A case of thyroid cancer followed by metachronous cancers and a pituitary tumour
A case of thyroid cancer followed by metachronous cancers and a pituitary tumour Open
Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)