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Identification and functional analysis of three novel genetic variants resulting in premature termination codons in three unrelated patients with hereditary antithrombin deficiency
Hereditary antithrombin (AT) deficiency is an autosomal dominant inherited thrombophilia. In three pedigrees of hereditary type I AT deficiency, we...
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Occupational practice in patients with hereditary transthyretin amyloidosis, a qualitative study
BackgroundHereditary transthyretin amyloidosis (ATTRv) is a rare genetic disease that negatively affects patients' quality of life through the...
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A de novo ANK1 mutation in a childhood hereditary spherocytosis: a case report
BackgroundDue to the heterogeneity of the phenotype of Hereditary spherocytosis (HS) patients, some patients may have rare clinical complications...
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Treatment characteristics of patients with hereditary transthyretin amyloidosis: a cohort study
BackgroundThere are novel medications approved for the treatment of hereditary transthyretin amyloidosis (ATTRv), classified as transthyretin (TTR)...
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Interdisciplinary risk counseling for hereditary breast and ovarian cancer: real-world data from a specialized center
PurposeHereditary breast and ovarian cancer has long been established to affect a considerable number of patients and their families. By identifying...
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Cardiovascular autonomic failure in hereditary transthyretin amyloidosis and TTR carriers is an early and progressive disease marker
BackgroundThe cardiomyopathic and neuropathic phenotype of hereditary transthyretin amyloidosis are well recognized. Cardiovascular autonomic...
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Hereditary pancreatic cancer
Pancreatic cancer is associated with both family and hereditary cancer syndromes. Multigene panel testing for pancreatic cancer detected the germline...
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Whole exome sequencing in Serbian patients with hereditary spastic paraplegia
Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases with a high genetic and clinical heterogeneity. Numerous HSP patients...
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Design of mobile and website health application devices for drug tolerability in hereditary fructose intolerance
BackgroundHereditary fructose intolerance (HFI) is a rare metabolic disease caused by aldolase B deficiency. The aim of our study was to analyse...
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Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal
Hereditary transthyretin (ATTRv) amyloidosis is a rare and autosomal dominant disorder associated with mutations in the transthyretin gene. Patients...
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A case of hereditary breast and ovarian cancer syndrome of initially presented as cancer of unknown primary with lymph node metastases unveiled by genetic analysis
Cancer of unknown primary (CUP) is a heterogeneous disease concept involving various malignant tumors. Understanding its pathophysiology is often...
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The symptom experience of hereditary angioedema (HAE) patients beyond HAE attacks: literature review and clinician interviews
BackgroundHereditary angioedema (HAE) is a genetic disorder characterized by re-occurring swelling episodes called “attacks,” usually in the limbs,...
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Systematic review of the molecular basis of hereditary breast and ovarian cancer syndrome in Brazil: the current scenario
BackgroundA detailed understanding of the genetic basis of cancer is of great interest to public health monitoring programs. Although many studies...
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One-Bone Forearm Procedure for Severe Recalcitrant Forearm Deformities in Masada IIb Hereditary Multiple Exostoses
IntroductionHereditary multiple exostoses (HME) Masada IIB has traditionally been treated by gradual ulnar lengthening with questionable efficacy in...
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Bowel obstruction secondary to internal hernia in a hereditary angioedema patient: a case report
BackgroundGastrointestinal attacks are frequent symptoms in patients diagnosed with hereditary angioedema (HAE). Cases of self-limited bowel...
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Patients with hereditary angioedema and their treatment patterns in Germany: a Delphi consensus study
BackgroundLittle is known about how many patients with hereditary angioedema due to C1 inhibitor deficiency (HAE-C1-INH) receive on-demand and/or...
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Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes
Mitochondrial disorders are a group of clinically and genetically heterogeneous multisystem disorders and peripheral neuropathy is frequently...
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Content validation and psychometric evaluation of the Angioedema Quality of Life Questionnaire for hereditary angioedema
BackgroundThere is considerable burden of illness in hereditary angioedema (HAE). However, instruments to assess health-related quality of life...
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Evaluating Variation in the Cardiac Management of Children with Hereditary Thoracic Aortic Disease in the United States
Hereditary thoracic aortic diseases (HTAD) such as Marfan syndrome (MFS), Loeys–Dietz syndrome (LDS), and vascular Ehlers–Danlos syndrome (VEDS)...
