scholarly journals CLAPO syndrome: Identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype

2017 ◽  
Author(s):  
Lara Rodriguez-Laguna ◽  
Kristina Ibañez ◽  
Gema Gordo ◽  
Sixto Garcia-Minaur ◽  
Fernando Santos-Simarro ◽  
...  
Keyword(s):  
Natural History ◽  
Developmental Disorders ◽  
Somatic Mosaicism ◽  
Clinical Manifestations ◽  
Tissue Samples ◽  
Lower Lip ◽  
Pik3ca Mutations ◽  
Activating Mutations ◽  
The Face ◽  
History Of

AbstractBackgroundCLAPO syndrome is a rare vascular disorder characterized by Capillary malformation of the lower lip, Lymphatic malformation predominant on the face and neck, Asymmetry, and Partial/generalized Overgrowth. Although the genetic cause is not known, the tissue distribution of the clinical manifestations in CLAPO seems to follow a pattern of somatic mosaicism.Subjects and methodsWe clinically evaluated a cohort of 13 patients with CLAPO and screened 20 DNA blood/tissue samples from nine patients using high-throughput, deep sequencing.ResultsWe identified five activating mutations in the PIK3CA gene in affected tissues from six of the nine patients studied; one of the variants (NM_006218.2:c.248T>C; p.Phe83Ser) has not been previously described in developmental disorders.ConclusionsWe describe for the first time the presence of somatic activating PIK3CA mutations in patients with CLAPO. We also report an update of the phenotype and natural history of the syndrome.

scholarly journals Prophylaxis AgainstMycobacterium aviumComplex Infection in AIDS

1994 ◽  
Vol 5 (suppl b) ◽  
pp. 10B-13B
Author(s):  
DW Cameron
Keyword(s):  
Human Immunodeficiency Virus ◽  
Natural History ◽  
Mycobacterium Avium Complex ◽  
Virus Disease ◽  
Clinical Manifestations ◽  
Diagnostic Methods ◽  
Wasting Syndrome ◽  
Immunodeficiency Virus ◽  
The Face ◽  
History Of

Disseminated Mycobacterium avium complex (MAC) infection in AIDS is increasing in frequency, although it remains under-recognized due to unlocalized clinical manifestations and subtle initial presentation, if not the need for specialized laboratory diagnostic methods. Ultimately, MAC accounts for much of the “wasting syndrome” in the natural history of human immunodeficiency virus disease. Multidrug treatment of MAC in AIDS is problematic. That MAC is preventable has been demonstrated, and how much clinical benefit can be had from successful prophylaxis remains to be evaluated in the face of improved efficacy of both treatment and prophylaxis regimens under investigation.

The physiopathology of spontaneous hemorrhagic stroke: a systematic review

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Alcivan Batista de Morais Filho ◽  
Thiago Luis de Holanda Rego ◽  
Letícia de Lima Mendonça ◽  
Sulyanne Saraiva de Almeida ◽  
Mariana Lima da Nóbrega ◽  
...  
Keyword(s):  
Risk Factors ◽  
Systematic Review ◽  
Ischemic Stroke ◽  
Subarachnoid Hemorrhage ◽  
Natural History ◽  
Hemorrhagic Stroke ◽  
Recent Literature ◽  
Clinical Manifestations ◽  
The Road ◽  
History Of

Abstract Hemorrhagic stroke (HS) is a major cause of death and disability worldwide, despite being less common, it presents more aggressively and leads to more severe sequelae than ischemic stroke. There are two types of HS: Intracerebral Hemorrhage (ICH) and Subarachnoid Hemorrhage (SAH), differing not only in the site of bleeding, but also in the mechanisms responsible for acute and subacute symptoms. This is a systematic review of databases in search of works of the last five years relating to the comprehension of both kinds of HS. Sixty two articles composed the direct findings of the recent literature and were further characterized to construct the pathophysiology in the order of events. The road to the understanding of the spontaneous HS pathophysiology is far from complete. Our findings show specific and individual results relating to the natural history of the disease of ICH and SAH, presenting common and different risk factors, distinct and similar clinical manifestations at onset or later days to weeks, and possible complications for both.

scholarly journals Hereditary haemorrhagic telangiectasia: A case report

2021 ◽  
Vol 9 ◽  
pp. 2050313X2110030
Author(s):  
Asfandyar Mufti ◽  
Muskaan Sachdeva ◽  
Khalad Maliyar ◽  
Marissa Joseph
Keyword(s):  
Arteriovenous Malformations ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Lower Lip ◽  
Recurrent Epistaxis ◽  
Receptor Like Kinase ◽  
History Of ◽  
The Right ◽  
Symptoms And Signs

Background: Hereditary haemorrhagic telangiectasia is an autosomal dominant genetic disorder characterized by abnormalities in blood vessel formation. The clinical manifestations of patients affected with hereditary haemorrhagic telangiectasia include mucocutaneous telangiectasias and visceral arteriovenous malformations. Case Summary: We report the case of a 30-year-old female diagnosed with hereditary haemorrhagic telangiectasia presenting with the classic triad of recurrent epistaxis, mucocutaneous telangiectasias and family history of hereditary haemorrhagic telangiectasia with activin receptor-like kinase 1 mutation. Upon skin examination, she was noted to have telangiectasias under left naris, inner lower lip and surface of the tongue, and a vascular malformation on the right forearm. Conclusion: Although the skin involvement and epistaxis may be mild symptoms and signs of hereditary haemorrhagic telangiectasia, timely recognition of these can ensure vigilant monitoring of potential severe complications from cerebral and pulmonary visceral arteriovenous malformations.

scholarly journals The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis

2020 ◽  
Author(s):  
Julia Hennermann ◽  
Nathalie Guffon ◽  
Federica Cattaneo ◽  
Ferdinando Ceravolo ◽  
Line Borgwardt ◽  
...  
Keyword(s):  
Cohort Study ◽  
Natural History ◽  
Prospective Cohort Study ◽  
Prospective Cohort ◽  
Clinical Care ◽  
Clinical Manifestations ◽  
Routine Clinical Care ◽  
Safety Outcomes ◽  
History Of

Abstract Background: Alpha-mannosidosis is a lysosomal storage disorder caused by reduced enzymatic activity of alpha-mannosidase. SPARKLE is an alpha-mannosidosis registry intended to obtain long-term safety and effectiveness data on the use of velmanase alfa during routine clinical care in patients with alpha-mannosidosis. It is a post-approval commitment to European marketing authorization for Velmanase alfa (Lamzede®), the first enzyme replacement therapy for the treatment of non-neurologic manifestations in patients with mild to moderate alpha-mannosidosis. In addition, SPARKLE will expand the current understanding of alpha-mannosidosis by collecting data on the clinical manifestations, progression, and natural history of the disease in treated and untreated patients, respectively.Results: The SPARKLE registry is designed as a multicenter, multinational, noninterventional, prospective cohort study of patients with alpha-mannosidosis, starting patient enrollment in 2020. Patients will be followed for up to 15 years. Safety and effectiveness as post-authorization outcomes under routine clinical care in patients with treatment will be evaluated. The primary safety outcomes are the rate of adverse events (anti-velmanase alfa-immunoglobulin G antibody development, infusion-related reactions, and hypersensitivity). Secondary safety outcomes include the evaluation of medical events, change in vital signs, laboratory tests, physical examination, and electrocardiogram results. The primary effectiveness outcome is a global treatment response rate, evaluated as the individual aggregate of single endpoints from pharmacodynamic, functional, and quality of life effectiveness outcomes; secondary effectiveness outcomes are to characterize the population of patients with alpha-mannosidosis with regard to clinical manifestation, progression, and natural history of the disease. Any patient in the European Union with a diagnosis of alpha-mannosidosis who is willing to participate will likely be eligible for inclusion in the registry. Publications to disseminate scientific insights from the registry are planned. Conclusion: This study will provide real-world data on the long-term safety and effectiveness of velmanase alfa in patients with alpha-mannosidosis during routine clinical care and increase the understanding of the natural course, clinical manifestations, and progression of this ultra-rare disease.

scholarly journals The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Julia B. Hennermann ◽  
Nathalie Guffon ◽  
Federica Cattaneo ◽  
Ferdinando Ceravolo ◽  
Line Borgwardt ◽  
...  
Keyword(s):  
Cohort Study ◽  
Natural History ◽  
Prospective Cohort Study ◽  
Prospective Cohort ◽  
Clinical Care ◽  
Clinical Manifestations ◽  
Routine Clinical Care ◽  
Safety Outcomes ◽  
History Of

Abstract Background Alpha-mannosidosis is a lysosomal storage disorder caused by reduced enzymatic activity of alpha-mannosidase. SPARKLE is an alpha-mannosidosis registry intended to obtain long-term safety and effectiveness data on the use of velmanase alfa during routine clinical care in patients with alpha-mannosidosis. It is a post-approval commitment to European marketing authorization for Velmanase alfa (Lamzede®), the first enzyme replacement therapy for the treatment of non-neurologic manifestations in patients with mild to moderate alpha-mannosidosis. In addition, SPARKLE will expand the current understanding of alpha-mannosidosis by collecting data on the clinical manifestations, progression, and natural history of the disease in treated and untreated patients, respectively. Results The SPARKLE registry is designed as a multicenter, multinational, noninterventional, prospective cohort study of patients with alpha-mannosidosis, starting patient enrollment in 2020. Patients will be followed for up to 15 years. Safety and effectiveness as post-authorization outcomes under routine clinical care in patients with treatment will be evaluated. The primary safety outcomes are the rate of adverse events (anti-velmanase alfa-immunoglobulin G antibody development, infusion-related reactions, and hypersensitivity). Secondary safety outcomes include the evaluation of medical events, change in vital signs, laboratory tests, physical examination, and electrocardiogram results. The primary effectiveness outcome is a global treatment response rate, evaluated as the individual aggregate of single endpoints from pharmacodynamic, functional, and quality-of-life effectiveness outcomes; secondary effectiveness outcomes are to characterize the population of patients with alpha-mannosidosis with regard to clinical manifestation, progression, and natural history of the disease. Any patient in the European Union with a diagnosis of alpha-mannosidosis who is willing to participate will likely be eligible for inclusion in the registry. Publications to disseminate scientific insights from the registry are planned. Conclusion This study will provide real-world data on the long-term safety and effectiveness of velmanase alfa in patients with alpha-mannosidosis during routine clinical care and increase the understanding of the natural course, clinical manifestations, and progression of this ultra-rare disease.

Natural History of Vascular Ring with Clinical Manifestations

1977 ◽  
Vol 11 (1) ◽  
pp. 75-77 ◽  
Author(s):  
John Godtfredsen ◽  
Alf Wennevold ◽  
Fritz Efsen ◽  
Poul Lauridsen
Keyword(s):  
Natural History ◽  
Vascular Ring ◽  
Clinical Manifestations ◽  
History Of
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