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Rare disease day in Slovakia, Europlan national conference

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Conference abstracts, Rare disease day, conference 29.2.2012, First Slovak conference about rare diseases

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Clinical Pharmacy in the Slovak Republic, dedicated to the associated professor Lívia Magulová, PhD.

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Detalles de la revista
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Revista
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2453-6725
Publicado por primera vez
25 Nov 2011
Periodo de publicación
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Volumen 61 (2014): Edición 1 (August 2014)

Detalles de la revista
Formato
Revista
eISSN
2453-6725
Publicado por primera vez
25 Nov 2011
Periodo de publicación
2 veces al año
Idiomas
Inglés

Buscar

6 Artículos
access type Acceso abierto

Editorial

Publicado en línea: 30 Aug 2014
Páginas: -

Resumen

access type Acceso abierto

Complex Multidisciplinary Follow-Up Of Children With Neurofibromatosis Type 1

Publicado en línea: 30 Aug 2014
Páginas: -

Resumen

Abstract

Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders with mainly mild cutaneous manifestations. Some patients with NF1, however, develop severe complications such as progressive optic pathway glioma, plexiform neurofibroma or malignant peripheral nerve sheath tumour. Due to potentially progressive and asymptomatic course of the disease, patients with NF1 require a regular multidisciplinary follow-up in coordination with various specialties and early intervention. In this article, we summarise our long-term experience with multidisciplinary follow-up of NF1 patients in the Centre for Neurofibromatosis Type 1 patients at the Children's University Hospital in Bratislava.

Palabras clave

  • Neurofibromatosis
  • genetic disorder
  • variable clinical manifestation
  • diagnostic criteria
  • genetic counselling
  • malignancy
  • follow-up
  • broad cooperation with specialists
access type Acceso abierto

The Creation Of The National Registry Of Rare Diseases In The Slovak Republic

Publicado en línea: 30 Aug 2014
Páginas: -

Resumen

Abstract

The creation of a registry of patients with rare diseases is a priority of the National Strategy for Rare Diseases as well as of the National Plan for Rare Diseases. Knowledge of the real number of patients with rare diseases would thus, in addition to basic clinical information, represent an important point in planning health and social care. The presented work introduces points of departure which constitute the basis of a new specific National Registry of Patients with Rare Diseases in the Slovak Republic. Its creation builds on the existing registries as well as on the structure of health care in the Slovak Republic. With the protection of personal data in mind, the collection of data will be carried out by the National Centre of Health Information (NCHI), which will also use the existing tool in the process of creation. Thanks to the cooperation between NCHI and the Slovak Society of Medical Genetics, NCHI developed separate reporting forms on rare diseases according to OMIM (Online Mendelian Inheritance in Man) and ORPHANET rare disease coding (ORPHA codes of rare diseases), and the International classification of diseases code (ICD 10). The activities also include cooperation with the existing registries (part of which are rare diseases). For example National Registry of Congenital Developmental Heart Defects, national register of neuromuscular disorders, oncologic register or register of diabetes mellitus. Gathering the information from these registries we will extend the data about rare diseases in the Slovak republic. At the international level the participation in the European Surveillance of Congenital Anomalies (EUROCAT) is important.

Palabras clave

  • rare diseases
  • national registries
  • OMIM code
  • ORPHA code
  • Registry of rare diseases
access type Acceso abierto

First Results From Expanded Newborn Screening in slovak Republic

Publicado en línea: 30 Aug 2014
Páginas: -

Resumen

Abstract

A one-and-a-half year experience with expanded newborn screening (ENBS) in Slovakia provided by means of tandem mass spectrometry (LC-MS/MS) is presented.

Method ENBS was realised from dry blood samples of the regular NBS in National Screening Centre SK. The LC-MS/MS software used allowed evaluating even 73 analytes in MRM mode after cut-of limits in 99 percentile of daily values. The regular ENBS was oriented to 10 inherited metabolic disorders (IMDs), organic acids and carnitine defects (PKU/HPA, MSUD, GAI, IVA, MCAD, LCHAD, SCAD, CPT I, CPT II, CACT). Except these, many other variations of results were registered in perimeter of the method. They were individually evaluated until the confrmation or exclusion of the suspected diagnosis.

Results During the one-and-a-half years, 82 892 newborns were evaluated by ENBS and 34 positive cases of IMDs were detected and confrmed, which represents a screening prevalence of 1:2438 newborns. Out of these, 24 cases were from regular ENBS (PKU/HPA, MSUD, MCAD) with an incidence of 1:3 454, and 10 additional cases at the periphery of LC-MS/MS evaluation with a prevalence of 1:8 286.

Conclusion Preliminary experience and results with ENBS confrmed its high efectiveness not only in 10 IMDs included in regular ENBS, but also at perimeter of LC-MS/MS method, in which it is possible to detect additional IMDs not included in regular spectrum of ENBS. This group comprised 29% of all cases. In general, the prevalence is comparable with PKU and/or CAH.

Palabras clave

  • extended newborn screening
  • tandem mass spectrometry
access type Acceso abierto

Characteristics and Treatment of Hairy Cell Leukaemia

Publicado en línea: 30 Aug 2014
Páginas: -

Resumen

Abstract

Hairy cell leukaemia (HCL) is a rare chronic indolent lymphoproliferative disease of B-lymphocytes. It always infiltrates the spleen, bone marrow or other organs and is also present in the peripheral blood in more than 95% of cases. The disease takes its name from its characteristic wrinkled surface with hair-like projections. The prognosis of this infaust diagnosis has dramatically changed since the 1980s through more precise diagnosis and efective treatment with purine analogues (1984, 2-deoxycoformy-cine (2-dCF); 1990, 2-chlorodeoxyadenosine (2-CdA)). In our group of 38 patients, we confrmed the diagnostic possibilities and their accuracy; in addition to morphological examination, these include fow cytometric detection of typical surface CD antigens and immunohistochemical recognition of hairy cells in the trephine biopsy. The treatment percentage in the number of response rates (RRs) (100%), complete remissions (CRs) (79%) and overall survival of patients is comparable with previously known data. Overall survival rate without symptoms of disease for more than 10 years after treatment is 87% (33/38). The presence and quantity of minimal residual disease (MRD) after frst-line treatment in bone marrow determine subsequent progression or relapse of the disease, sometimes even occurring many years after the treatment. Probably some new pharmacotherapeutical possibilities (monoclonal antibodies, immunotoxins, tyrosine kinase inhibitors or inhibitors of B-Raf enzyme) could demonstrate the ability to eliminate MRD and cure it in relapsed patients or patients refractory to purine analogues. HCL has become an oncological disease with a relatively good prognosis and long-term survival after standard treatment with purine analogues despite the persistence of indolent MRD in the bone marrow at varying degree of residual infiltration intensity.

Palabras clave

  • hairy cell leukaemia
  • purine analogues
  • interferon-α
  • monoclonal antibodies
  • survival
access type Acceso abierto

Alkaptonuria and Ochronosis – Experience From Slovakia

Publicado en línea: 30 Aug 2014
Páginas: -

Resumen

Abstract

Alkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is caused due to a defect in the enzyme homogentisate 1,2-dioxygenase, which participates in the degradation of tyrosine. As a result, homogentisic acid and its oxide accumulate in the blood and are excreted in urine in large amounts. The polymer of homogentisic acid called alkapton impregnates bradotrophic tissues.

Palabras clave

  • alkaptonuria
  • ochronosis
  • homogentisic acid in urine
6 Artículos
access type Acceso abierto

Editorial

Publicado en línea: 30 Aug 2014
Páginas: -

Resumen

access type Acceso abierto

Complex Multidisciplinary Follow-Up Of Children With Neurofibromatosis Type 1

Publicado en línea: 30 Aug 2014
Páginas: -

Resumen

Abstract

Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders with mainly mild cutaneous manifestations. Some patients with NF1, however, develop severe complications such as progressive optic pathway glioma, plexiform neurofibroma or malignant peripheral nerve sheath tumour. Due to potentially progressive and asymptomatic course of the disease, patients with NF1 require a regular multidisciplinary follow-up in coordination with various specialties and early intervention. In this article, we summarise our long-term experience with multidisciplinary follow-up of NF1 patients in the Centre for Neurofibromatosis Type 1 patients at the Children's University Hospital in Bratislava.

Palabras clave

  • Neurofibromatosis
  • genetic disorder
  • variable clinical manifestation
  • diagnostic criteria
  • genetic counselling
  • malignancy
  • follow-up
  • broad cooperation with specialists
access type Acceso abierto

The Creation Of The National Registry Of Rare Diseases In The Slovak Republic

Publicado en línea: 30 Aug 2014
Páginas: -

Resumen

Abstract

The creation of a registry of patients with rare diseases is a priority of the National Strategy for Rare Diseases as well as of the National Plan for Rare Diseases. Knowledge of the real number of patients with rare diseases would thus, in addition to basic clinical information, represent an important point in planning health and social care. The presented work introduces points of departure which constitute the basis of a new specific National Registry of Patients with Rare Diseases in the Slovak Republic. Its creation builds on the existing registries as well as on the structure of health care in the Slovak Republic. With the protection of personal data in mind, the collection of data will be carried out by the National Centre of Health Information (NCHI), which will also use the existing tool in the process of creation. Thanks to the cooperation between NCHI and the Slovak Society of Medical Genetics, NCHI developed separate reporting forms on rare diseases according to OMIM (Online Mendelian Inheritance in Man) and ORPHANET rare disease coding (ORPHA codes of rare diseases), and the International classification of diseases code (ICD 10). The activities also include cooperation with the existing registries (part of which are rare diseases). For example National Registry of Congenital Developmental Heart Defects, national register of neuromuscular disorders, oncologic register or register of diabetes mellitus. Gathering the information from these registries we will extend the data about rare diseases in the Slovak republic. At the international level the participation in the European Surveillance of Congenital Anomalies (EUROCAT) is important.

Palabras clave

  • rare diseases
  • national registries
  • OMIM code
  • ORPHA code
  • Registry of rare diseases
access type Acceso abierto

First Results From Expanded Newborn Screening in slovak Republic

Publicado en línea: 30 Aug 2014
Páginas: -

Resumen

Abstract

A one-and-a-half year experience with expanded newborn screening (ENBS) in Slovakia provided by means of tandem mass spectrometry (LC-MS/MS) is presented.

Method ENBS was realised from dry blood samples of the regular NBS in National Screening Centre SK. The LC-MS/MS software used allowed evaluating even 73 analytes in MRM mode after cut-of limits in 99 percentile of daily values. The regular ENBS was oriented to 10 inherited metabolic disorders (IMDs), organic acids and carnitine defects (PKU/HPA, MSUD, GAI, IVA, MCAD, LCHAD, SCAD, CPT I, CPT II, CACT). Except these, many other variations of results were registered in perimeter of the method. They were individually evaluated until the confrmation or exclusion of the suspected diagnosis.

Results During the one-and-a-half years, 82 892 newborns were evaluated by ENBS and 34 positive cases of IMDs were detected and confrmed, which represents a screening prevalence of 1:2438 newborns. Out of these, 24 cases were from regular ENBS (PKU/HPA, MSUD, MCAD) with an incidence of 1:3 454, and 10 additional cases at the periphery of LC-MS/MS evaluation with a prevalence of 1:8 286.

Conclusion Preliminary experience and results with ENBS confrmed its high efectiveness not only in 10 IMDs included in regular ENBS, but also at perimeter of LC-MS/MS method, in which it is possible to detect additional IMDs not included in regular spectrum of ENBS. This group comprised 29% of all cases. In general, the prevalence is comparable with PKU and/or CAH.

Palabras clave

  • extended newborn screening
  • tandem mass spectrometry
access type Acceso abierto

Characteristics and Treatment of Hairy Cell Leukaemia

Publicado en línea: 30 Aug 2014
Páginas: -

Resumen

Abstract

Hairy cell leukaemia (HCL) is a rare chronic indolent lymphoproliferative disease of B-lymphocytes. It always infiltrates the spleen, bone marrow or other organs and is also present in the peripheral blood in more than 95% of cases. The disease takes its name from its characteristic wrinkled surface with hair-like projections. The prognosis of this infaust diagnosis has dramatically changed since the 1980s through more precise diagnosis and efective treatment with purine analogues (1984, 2-deoxycoformy-cine (2-dCF); 1990, 2-chlorodeoxyadenosine (2-CdA)). In our group of 38 patients, we confrmed the diagnostic possibilities and their accuracy; in addition to morphological examination, these include fow cytometric detection of typical surface CD antigens and immunohistochemical recognition of hairy cells in the trephine biopsy. The treatment percentage in the number of response rates (RRs) (100%), complete remissions (CRs) (79%) and overall survival of patients is comparable with previously known data. Overall survival rate without symptoms of disease for more than 10 years after treatment is 87% (33/38). The presence and quantity of minimal residual disease (MRD) after frst-line treatment in bone marrow determine subsequent progression or relapse of the disease, sometimes even occurring many years after the treatment. Probably some new pharmacotherapeutical possibilities (monoclonal antibodies, immunotoxins, tyrosine kinase inhibitors or inhibitors of B-Raf enzyme) could demonstrate the ability to eliminate MRD and cure it in relapsed patients or patients refractory to purine analogues. HCL has become an oncological disease with a relatively good prognosis and long-term survival after standard treatment with purine analogues despite the persistence of indolent MRD in the bone marrow at varying degree of residual infiltration intensity.

Palabras clave

  • hairy cell leukaemia
  • purine analogues
  • interferon-α
  • monoclonal antibodies
  • survival
access type Acceso abierto

Alkaptonuria and Ochronosis – Experience From Slovakia

Publicado en línea: 30 Aug 2014
Páginas: -

Resumen

Abstract

Alkaptonuria is a rare inherited genetic disorder of phenylalanine and tyrosine metabolism. This is an autosomal recessive condition that is caused due to a defect in the enzyme homogentisate 1,2-dioxygenase, which participates in the degradation of tyrosine. As a result, homogentisic acid and its oxide accumulate in the blood and are excreted in urine in large amounts. The polymer of homogentisic acid called alkapton impregnates bradotrophic tissues.

Palabras clave

  • alkaptonuria
  • ochronosis
  • homogentisic acid in urine

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