scholarly journals Acute Intermittent Porphyria: Predicted Pathogenicity ofHMBSVariants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease

2016 ◽  
Vol 37 (11) ◽  
pp. 1215-1222 ◽  
Author(s):  
Brenden Chen ◽  
Constanza Solis-Villa ◽  
Jörg Hakenberg ◽  
Wanqiong Qiao ◽  
Ramakrishnan R. Srinivasan ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Acute Intermittent Porphyria ◽  
Autosomal Dominant Disease ◽  
Dominant Disease

scholarly journals A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Saba Ahmad ◽  
Luis Manon ◽  
Gifty Bhat ◽  
Jerry Machado ◽  
Alice Zalan ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Cellular Differentiation ◽  
Autosomal Dominant ◽  
De Novo ◽  
Autosomal Dominant Disease ◽  
Sacrococcygeal Teratoma ◽  
Dominant Disease ◽  
The Brain

AbstractTuberous sclerosis complex (TSC) is an autosomal dominant disease associated with tumors and malformed tissues in the brain and other vital organs. We report a novel de novo frameshift variant of the TSC1 gene (c.434dup;p. Ser146Valfs*8) in a child with TSC who initially presented with a sacral teratoma. This previously unreported association between TSC and teratoma has broad implications for the pathophysiology of embryonic tumors and mechanisms underlying cellular differentiation.

Genetic counselling in pre-capillary pulmonary hypertension

ESC CardioMed ◽  
2018 ◽  
pp. 2558-2560
Author(s):  
Barbara Girerd ◽  
David Montani ◽  
Marc Humbert
Keyword(s):  
Pulmonary Hypertension ◽  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Genetic Counselling ◽  
Autosomal Dominant ◽  
Autosomal Dominant Disease ◽  
Pulmonary Capillary ◽  
Dominant Disease ◽  
Pulmonary Arterial ◽  
Biallelic Mutations

Pre-capillary pulmonary hypertension can be heritable in the context of pulmonary arterial hypertension (an autosomal dominant disease mainly due to mutations in BMPR2), and pulmonary veno-occlusive disease or pulmonary capillary haemangiomatosis (an autosomal recessive disease due to biallelic mutations in the EIF2AK4 gene). Genetic counselling can be implemented in referral centres for pulmonary hypertension as outlined in this chapter.

scholarly journals Suppression and Replacement Gene Therapy for Autosomal Dominant Disease in a Murine Model of Dominant Retinitis Pigmentosa

2011 ◽  
Vol 19 (4) ◽  
pp. 642-649 ◽  
Author(s):  
Sophia Millington-Ward ◽  
Naomi Chadderton ◽  
Mary O'Reilly ◽  
Arpad Palfi ◽  
Tobias Goldmann ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Retinitis Pigmentosa ◽  
Murine Model ◽  
Autosomal Dominant ◽  
Autosomal Dominant Disease ◽  
Dominant Disease

Genetic counselling in pre-capillary pulmonary hypertension

ESC CardioMed ◽  
2018 ◽  
pp. 2558-2560
Author(s):  
Barbara Girerd ◽  
David Montani ◽  
Marc Humbert
Keyword(s):  
Pulmonary Hypertension ◽  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Genetic Counselling ◽  
Autosomal Dominant ◽  
Autosomal Dominant Disease ◽  
Pulmonary Capillary ◽  
Dominant Disease ◽  
Pulmonary Arterial ◽  
Biallelic Mutations

Pre-capillary pulmonary hypertension can be heritable in the context of pulmonary arterial hypertension (an autosomal dominant disease mainly due to mutations in BMPR2), and pulmonary veno-occlusive disease or pulmonary capillary haemangiomatosis (an autosomal recessive disease due to biallelic mutations in the EIF2AK4 gene). Genetic counselling can be implemented in referral centres for pulmonary hypertension as outlined in this chapter.

scholarly journals Mosaic epidermolytic ichthyosis - case report

2013 ◽  
Vol 88 (6 suppl 1) ◽  
pp. 116-119 ◽  
Author(s):  
Marcela Sena Teixeira Mendes ◽  
Samara Silva Kouzak ◽  
Thaissa Araújo Aquino ◽  
Gustavo Henrique Soares Takano ◽  
Antonio de Padua Lima
Keyword(s):  
Case Report ◽  
Female Patient ◽  
Autosomal Dominant ◽  
The Other ◽  
Autosomal Dominant Disease ◽  
Epidermolytic Ichthyosis ◽  
Dominant Disease ◽  
Mosaic Form ◽  
Two Populations ◽  
Rare Autosomal Dominant Disease

Epidermolytic ichthyosis is a rare autosomal dominant disease that manifests at birth with fragile blisters and erosions that evolve into hyperkeratotic lesions associated or not with erythroderma. When the disease is associated with a mutation in cytokeratin 1, it may be related to hyperkeratosis of palms and soles, but this is not usually found when cytokeratin 10 is mutated. The disease can present in a mosaic form, due to post zygotic mutation of the gene involved, constituting an individual formed by two populations of genetically distinct cells - one carrier of the mutation and the other without it. We report a case of mosaic epidermolytic ichthyosis diagnosed in a female patient.

scholarly journals Recurrent Ulcerations in an 84-Year-Old Male Diagnosed with Hailey-Hailey Disease

2020 ◽  
Vol 12 (3) ◽  
pp. 209-212
Author(s):  
Fahad Al Qooz ◽  
Mohammed Almuharraqi ◽  
Sajjad Salam ◽  
Veena Nagaraj ◽  
Abdullah Darwish
Keyword(s):  
Quality Of Life ◽  
Steroid Therapy ◽  
Autosomal Dominant ◽  
Autosomal Dominant Disease ◽  
Oral Antibiotics ◽  
Dominant Disease

Hailey-Hailey disease (HHD), or familial benign chronic pemphigus, is a rare inherited acantholytic dermatosis. It is an autosomal dominant disease affecting the intertriginous areas. HHD has been characterized by flaccid blisters, erosions, and macerations that are limited to flexural (friction-prone) areas. The painful blisters and erosions significantly decrease patients’ quality of life. There are multiple types of therapy related to this disorder. Many of the studies have suggested benefits from steroid therapy in addition to oral antibiotics.

scholarly journals Thalidomide as an effective treatment in a case of Osler Weber Rendu syndrome: a case report

2016 ◽  
Vol 7 (4) ◽  
pp. 107-109
Author(s):  
Titli Bandyopadhyay ◽  
VT Anand ◽  
Dibyendu Gangopadhyay
Keyword(s):  
Case Report ◽  
Effective Treatment ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Autosomal Dominant ◽  
Autosomal Dominant Disease ◽  
Medical Sciences ◽  
Recurrent Epistaxis ◽  
Dominant Disease ◽  
Vascular Dysplasia

Osler Weber Rendu Syndrome (OWRS), or Hereditary Hemorrhagic telangiectasia (HHT) is an autosomal dominant disease presents with epistaxis, telangiactesia and multiorgan vascular dysplasia. Recurrent epistaxis is common in these patients and various local forms of therapy is tried to treat the condition, but there is lack of definitive and effective treatment. We present a patient of HHT with severe recurrent epistaxis successfully treated with thalidomide.Asian Journal of Medical Sciences Vol.7(4) 2016 107-109

scholarly journals Spontaneous hemothorax: A rare lethal pulmonary complication of neurofibromatosis type 1

2021 ◽  
pp. 433-435
Author(s):  
Aditya Nath Shukla ◽  
Ashok Kumar Singh ◽  
Saket Nigam
Keyword(s):  
Hemorrhagic Shock ◽  
Neurofibromatosis Type 1 ◽  
Autosomal Dominant ◽  
Pulmonary Complication ◽  
Neurofibromatosis Type ◽  
Autosomal Dominant Disease ◽  
Spontaneous Hemothorax ◽  
Dominant Disease ◽  
Abnormal Pigmentation

Neurofibromatosis 1 (NF1), also called von Recklinghausen’s disease, is an autosomal dominant disease characterized by multiple non-cancerous tumors of nerves and skin, and areas of abnormal pigmentation. Vasculopathy and spontaneous hemothorax are rare complications, but potentially lethal, which necessitates quick and decisive intervention to save the life of the patient. Here, we present a case of spontaneous massive haemothorax leading to hemorrhagic shock in a 66-year-old woman with neurofibromatosis type-1. She was investigated and managed successfully.

scholarly journals Bilaterally displaced Schwalbe’s line: An unusual presentation of Axenfeld Rieger syndrome

2021 ◽  
Vol 7 (3) ◽  
pp. 599-601
Author(s):  
Gunjan Chadha ◽  
Medha Sharma ◽  
Arvind Chauhan ◽  
Gunjan Chadha
Keyword(s):  
Anterior Chamber ◽  
Autosomal Dominant ◽  
Autosomal Dominant Disease ◽  
Unusual Presentation ◽  
Tissue Adhesions ◽  
Rieger Syndrome ◽  
Ocular Findings ◽  
Dominant Disease ◽  
Iris Atrophy

To report a case on unusual presentation of Axenfeld Reiger (A-R) syndrome. Axenfeld Rieger syndrome commonly presents with prominent Schwalbe’s line near the limbus. Presentation with displaced Schwalbe’s line is rarely reported. We report 2 cases who presented with bilaterally displaced Schwalbe ring as strange cord like structure in anterior chamber with iris tissue adhesions. Axenfeld – Reiger syndrome is an autosomal dominant disease with ocular findings involving cornea (megalocornea), iris (iris atrophy,correctopia) and angle (anterior insertion of iris, prominent Schwalbe line). We report unsual case of detached Schwalbe’s line with iris tissue adhesions in anterior chamber A-R syndrome.

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