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A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.

Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an accumulation of its substrate, glucosylceramide, in macrophages. In the general population, its incidence is approximately 1/40,000 to 1/60,000 births, rising to 1/800 in Ashkenazi Jews. The main cause of the cytopenia, splenomegaly, hepatomegaly, and bone lesions associated with the disease is considered to be the infiltration of the bone marrow, spleen, and liver by Gaucher cells. Type-1 Gaucher disease, which affects the

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… However, these distinctions are not absolute, and it is increasingly recognized that neuropathic GD represents a phenotypic continuum, ranging from extrapyramidal syndrome in type 1, at the mild end, to hydrops fetalis at the severe end of type 2 [ 4 ]. … It usually manifests with hydrops fetalis, hepatosplenomegaly, ichthyosis, arthrogryposis, facial dysmorphia and fetal thrombocytopenia. Death often occurs in utero or soon after birth [ 118 ]. …

Erythropoiesis: insights into pathophysiology and treatments in 2017.

Erythropoiesis is a tightly-regulated and complex process originating in the bone marrow from a multipotent stem cell and terminating in a mature, enucleated erythrocyte.Altered red cell production can result from the direct impairment of medullary erythropoiesis, as seen in the thalassemia syndromes, inherited bone marrow failure as well as in the anemia of chronic disease. Alternatively, in disorders such as sickle cell disease (SCD) as well as enzymopathies and membrane defects, medullary erythropoiesis is not, or only minimally, directly impaired. Despite these differences in pathophysiolo

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… When no α-globin is produced, infants suffer from Hb Bart’s Hydrops Fetalis Syndrome characterized by severe intra-uterine anemia, marked hepatosplenomegaly, cardiac failure, ascites and growth retardation. …

Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises.

Different approaches have been utilized or proposed for the treatment of lysosomal storage disorders (LSDs) including enzyme replacement and hematopoietic stem cell transplant therapies, both aiming to compensate for the enzymatic loss of the underlying mutated lysosomal enzymes. However, these approaches have their own limitations and therefore the vast majority of LSDs are either still untreatable or their treatments are inadequate. Missense mutations affecting enzyme stability, folding and cellular trafficking are common in LSDs resulting often in low protein half-life, premature degradatio

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… Features like cerebellar ataxia in GM1/2 gangliosidosis, Neuropathic pain and kidney failure in Fabry disease, Seizures and deafness in Krabbe, Hydrops fetalis in Farber, galactosialidosis, Gaucher, GM1 gangliosidosis and others, and ocular anomalies in Farber, galactosialidosis, GM1/2 gangliosidosis …

Integumentary System

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A review on Gaucher disease: therapeutic potential of β-glucocerebrosidase-targeted mRNA/saRNA approach.

Gaucher disease (GD), a rare hereditary lysosomal storage disorder, occurs due to a deficiency in the enzyme β-glucocerebrosidase (GCase). This deficiency leads to the buildup of substrate glucosylceramide (GlcCer) in macrophages, eventually resulting in various complications. Among its three types, GD2 is particularly severe with neurological involvements. Current treatments, such as enzyme replacement therapy (ERT), are not effective for GD2 and GD3 due to their inability to cross the blood-brain barrier (BBB). Other treatment approaches, such as gene or chaperone therapies are still in expe

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… There are several phenotypes associated with GD2: hydrops fetalis- a condition when an excessive buildup of fluid in various parts of the body occurs; hepatosplenomegaly; skin abnormalities including congenital ichthyosis and abnormal, cellophane-like skin; dysmorphology of face features 82 ; neurological …

Characteristics and advances in signaling pathways, cellular communication, cell junctions, and oxidative stress in lymphedema.

Lymphedema is a chronic inflammatory disease without an effective treatment method, and it results in a high disease burden and psychological distress in patients. Although there have been significant advances in targeted therapies, there are still no effective options to treat this refractory disease. In recent years, new advances and breakthroughs have been made in signaling pathways, including RAS/MAPK, PI3K/AKT, VEGF-C/VEGFR-3, HGF/MET, and TGF-β1, which are important for understanding the pathogenesis and disease progression of lymphedema. Mutations in genes encoding cell junctions affect

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… Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune Hydrops fetalis. Nat. Commun. 6, 8085. 10.1038/ncomms9085 Fritz-Six K. L., Dunworth W. P., Li M., Caron K. M. (2008). …

Imiglucerase in the treatment of Gaucher disease: a history and perspective.

The scientific and therapeutic development of imiglucerase (Cerezyme(®)) by the Genzyme Corporation is a paradigm case for a critical examination of current trends in biotechnology. In this article the authors argue that contemporary interest in treatments for rare diseases by major pharmaceutical companies stems in large part from an exception among rarities: the astonishing commercial success of Cerezyme. The fortunes of the Genzyme Corporation, latterly acquired by global giant Sanofi SA, were founded on the evolution of a blockbuster therapy for a single but, as it turns out, propitious ul

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… A perinatal lethal form of Gaucher disease, best classified with type 2 disease, is associated with hydrops fetalis and a defect in the ability of skin to retain moisture – “collodion baby.” 58 , 59 Chronic forms of neuronopathic Gaucher disease are termed type 3 Gaucher disease. …

Catching Them Early: Framework Parameters and Progress for Prenatal and Childhood Application of Advanced Therapies.

Advanced therapy medicinal products (ATMPs) are medicines for human use based on genes, cells or tissue engineering. After clear successes in adults, the nascent technology now sees increasing pediatric application. For many still untreatable disorders with pre- or perinatal onset, timely intervention is simply indispensable; thus, prenatal and pediatric applications of ATMPs hold great promise for curative treatments. Moreover, for most inherited disorders, early ATMP application may substantially improve efficiency, economy and accessibility compared with application in adults. Vindicating t

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… For HSPC application, hydrops fetalis in alpha-thalassemia major represents a textbook case of the need for and unique potential of in utero therapeutic applications. …

Poster Abstracts

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Резюме докладов 53rd Конференция Европейского общества генетики человека: интерактивные электронные постеры.

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Proceedings of the RAMI Intern Section Meeting.

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34th Европейский конгресс патологии - резюме.

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СРП 2013

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Резюме ЭСП 2013.

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33rd Европейский конгресс патологии - резюме.

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Ход работы сессии 31st Европейский педиатрический конгресс по педиатрии: часть 1.

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Обязательный экзамен по патологии: лишний или необходимый?

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Резюме: 32 Второй Конгресс ЭСП и Международный конгресс XXXIII МПД.

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Резюме докладов 51st Конференция Европейского общества генетики человека: плакаты

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Abstracts of the 36th Annual Meeting of the Society of General Internal Medicine. April 24-27, 2013. Denver, Colorado, USA.

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