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A child with a rare genetic disease - Noonan syndrome

100%

Siwik P., Janas A.

Journal of Pre-Clinical and Clinical Research

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2015

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tom 09

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nr 1

Noonan syndrome is a congenital developmental disorder characterized by short stature, facial dysmorphia, congenital heart defects and skeletal anomalies, with as estimated incidence of between one per 1000 and one per 2500 live births. The aim of our study is to present a case of dental surgical treatment of a child with such disorder. It is widely reported that children with mental disabilities receive less dental and medical care than their nondisabled counterparts. Because of this problem, it seems justified to describe the procedures of treating such children with dental issues, basing on a case of a girl with Noonan Syndrome.

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Understanding mitotane mode of action

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Waszut U., Szyszka P., Dworakowska D.

Journal of Physiology and Pharmacology

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2017

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tom 68

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nr 1

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Telomeropathies: rare disease syndromes

84%

Panczyszyn A., Boniewska-Bernacka E.

Medical Science Pulse

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2018

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tom 12

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nr 2

Telomeres are located at the end of the chromosomes. They protect chromosomes from fusion and degradation. Every cell division causes a shortening of the telomeres. A special enzymatic complex called telomerase is responsible for maintaining telomere length in intensively dividing cells, such as epithelial cells and bone marrow cells. The enzymatic complex includes the TERT subunit, which has reverse transcriptase activity, and the TERC subunit, which acts as a template. Other important components of telomerase are the proteins that are responsible for structural stability. Telomerase remains active only in the dividing cells of the body. The rate of telomere shortening depends on many factors including age, sex, and comorbidities. Faster shortening of telomeres is caused by gene defects, which have an impact on telomerase action. Collectively, these are called telomeropathies. Common causes of telomeropathies are mutations in the TERT and TERC telomerase genes. Types of telemeropathies include dyskeratosis congenita, idiopathic pulmonary fibrosis, and aplastic anaemia, among others. Clinical manifestations and prognoses depend on the type and quantity of mutated genes. Diagnosis of telomeropathies is often problematic because they present with the same symptoms as other diseases. So far, no effective therapeutic methods have been developed for telomeropathies. A therapeutic method for patients with bone marrow failure may be the transplantation of hematopoietic stem cells. For patients with idiopathic pulmonary fibrosis, treatments include immunosuppressive therapy, lung transplantation, or palliative care. In the future, gene therapy may be an effective treatment strategy for telomeropathies. Lifestyle changes may also have a positive impact on the person. Physical activity combined with a healthy diet rich in antioxidants and unsaturated fatty acids can decrease the oxidative stress levels in cells and lead to a slower shortening of the telomeres.

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The human aural myiasis caused by Lucilia sericata

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Kaczmarczyk D., Kopczynski J., Kwiecien J., Michalski M., Kurnatowski P.

Wiadomości Parazytologiczne

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2011

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tom 57

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nr 1

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Coexpression of CD1a, langerin and Birbeck's granules in Langerhans cell histiocytoses [LCH] in children: ultrastructural and immunocytochemical studies

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Dziegiel P., Dolinska-Krajewska B., Dumanska M., Weclawek J., Jelen M., Podhorska-Okolow M., Jagoda E., Fic M., Zabel M.

Folia Histochemica et Cytobiologica

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2007

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tom 45

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nr 1

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Rzadkie i nietypowe choroby bakteryjne bydła

51%

Bednarski M.

Lecznica Dużych Zwierząt. Ogólnopolski Kwartalnik dla Lekarzy Weterynarii

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2015

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tom 10

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nr 2 Monografia

Ograniczanie wyników

A child with a rare genetic disease - Noonan syndrome

Understanding mitotane mode of action

Telomeropathies: rare disease syndromes

The human aural myiasis caused by Lucilia sericata

Coexpression of CD1a, langerin and Birbeck's granules in Langerhans cell histiocytoses [LCH] in children: ultrastructural and immunocytochemical studies

Rzadkie i nietypowe choroby bakteryjne bydła