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Yeltay Rakhmanov, Paolo Enrico Maltese, Stefano Paolacci, Alice Bruson and Matteo Bertelli

Abstract

Emberger Syndrome (ES) is a very rare genetic disorder associated with primary lymphedema, myelodysplasia and immunodeficiency. The syndrome has autosomal dominant inheritance with incomplete penetrance. Sporadic cases caused by de novo germinal mutations in the GATA2 gene have also been described. We developed the test protocol on the basis of the latest research findings and diagnostic protocols on lymphatic malformation in ES. The genetic test is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

Open access

Yeltay Rakhmanov, Paolo Enrico Maltese, Alessandra Zulian and Matteo Bertelli

Abstract

Large-caliber vessels are those with a diameter of 10 mm or more. Most aneurysms remain asymptomatic until they expand or rupture. Aortic aneurysms are of special interest for physicians and scientists because of their prevalence. Aortic aneurysms and dissections account for 1-2% of all deaths in western countries. Expansion and rupture of vascular aneurysms show a strong correlation with hyperlipidemia, hypertension, smoking, sex and age. Heritability estimates have been as high as 70%. This Utility Gene Test was developed on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

Open access

Stefano Paolacci, Yeltay Rakhmanov, Paolo Enrico Maltese, Alice Bruson and Matteo Bertelli

Abstract

Variants affecting the function of genes in the RAS–mitogen-activated protein kinase (MAPK) signal transduction pathway have been identified as responsible for a group of developmental syndromes known as RASopathies. Noonan (NS) and cardiofaciocutaneous syndromes (CFC) represent the most frequent and best characterized RASopathies. Many cases of RASopathies are associated with lymphatic malformations that finally may result in lymphedema. We developed the test protocol “Lymphedema in RASopathies” on the basis of the latest research findings and diagnostic protocols on lymphatic malformation in RASopathies. The genetic test is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

Open access

Yeltay Rakhmanov, Paolo Enrico Maltese, Alice Bruson, Tommaso Beccari and Matteo Bertelli

Abstract

Hennekam Syndrome (HS) is a combination of congenital lymphatic malformation, lymphangiectasia and other disorders. It is a very rare disorder with autosomal recessive inheritance. We developed the test protocol “Hennekam Syndrome” on the basis of the latest research findings and diagnostic protocols on lymphatic malformation in HS. The genetic test is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

Open access

Stefano Paolacci, Yeltay Rakhmanov, Paolo Enrico Maltese and Matteo Bertelli

Abstract

Cardiovascular disorders include various conditions characterized by morphological and functional defects of the heart and vascular system. Molecular biology techniques (in particular DNA sequencing) have recently offered new insights into the etiology of cardiovascular defects, revealing their association with germline as well as somatic mutations.

Genetic tests are evaluated on the basis of their analytical and clinical validity, clinical utility, and ethical, legal and social implications. Next generation sequencing is so far the best approach for molecular diagnosis of congenital heart defects and vascular anomalies, the genetic and phenotypic heterogeneity of which makes them difficult to diagnose. Understanding the molecular causes of congenital heart defects and vascular anomalies has permitted clinical trials of drugs targeting affected genes and pathways.

The articles in this Special Issue aim to provide guidance for those concerned with diagnosis and research in the field of cardiovascular defects. The approach to genetic testing is discussed.

Open access

Yeltay Rakhmanov, Paolo Enrico Maltese, Stefano Paolacci, Carla Marinelli and Matteo Bertelli

Abstract

We studied the scientific literature and disease guidelines to summarize the clinical utility of genetic testing for lymphedema distichiasis (LD) syndrome. LD is inherited in an autosomal dominant manner, and has unknown prevalence. It is caused by variations in the FOXC2 gene. Clinical diagnosis involves clinical examination, targeted at identifying primary lymphedema (chronic swelling of the extremities) and distichiasis (double row of eyelashes). The genetic test is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

Open access

Paolo Enrico Maltese, Yeltay Rakhmanov, Alessandra Zulian, Angelantonio Notarangelo and Matteo Bertelli

Abstract

Cystic hygroma (CH) is characterized by abnormal accumulation of fluid in the region of the fetal neck and is a major anomaly associated with aneuploidy. Morphologically characterized by failure of the lymphatic system to communicate with the venous system in the neck, the clinical manifestations of CH depend on its size and location. Incidence is estimated at one case per 6000-16,000 live births. CH has autosomal dominant or autosomal recessive inheritance. This Utility Gene Test was developed on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

Open access

Paolo Enrico Maltese, Yeltay Rakhmanov, Alice Bruson, Lorenzo Lorusso and Matteo Bertelli

Abstract

Stroke is defined as a focal or at times global neurological impairment of sudden onset and presumed vascular origin. 85% of strokes are due to cerebral ischemia and the other 15% to primary intracerebral hemorrhage.

Ischemic stroke (IS) is characterized by complete or partial obstruction of a vessel in the brain, resulting in lack of blood supply and death of brain tissue. The most common causes of IS are atherosclerosis, cardioembolism and small-vessel disease (lacunar stroke). Genetic factors play important role. Incidence rates for IS in the 15- to 45-year age range are ≈10 per 100,000 person years.

Hemorrhagic stroke (HS) is the least treatable and the most fatal form of cerebrovascular disease. Genetic mechanisms play a role in its development. Occurrence depends on many risk factors, including hypertension, heavy alcohol intake and anticoagulant treatment. According to the World Health Organization, 15 million people suffer stroke worldwide each year. The overall incidence of spontaneous HS worldwide is 24.6 per 100,000 person years. Strokes are the third most common cause of death and the most common cause of disability in developed countries.

This Utility Gene Test was developed on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

Open access

Yeltay Rakhmanov, Paolo Enrico Maltese, Carla Marinelli, Tommaso Beccari, Munis Dundar and Matteo Bertelli

Abstract

Pulmonary stenosis (PS) is a congenital pulmonary valve malformation. It can be classified as valvular, subvalvular or supravalvular. Isolated forms of PS are rare. PS is associated with the development of massive pulmonary arterial dilatation. Patients with PS have a high consanguinity rate and the disorder is highly familial, which is why knowing the genetic aetiology of this defect is important. Prevalence is estimated at about 4/10,000 live births, and incidence at about 10% of all children with congenital heart defects. PS has prevalently autosomal dominant and rarely autosomal recessive inheritance. This Utility Gene Test was developed on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

Open access

Yeltay Rakhmanov, Paolo Enrico Maltese, Alessandra Zulian, Tommaso Beccari, Munis Dundar and Matteo Bertelli

Abstract

Coarctation of the aorta (CoA) is an inherited narrowing of the proximal descending thoracic aorta. Histological features include localized medial thickening and infolding with superimposed neointimal tissue. CoA is diagnosed by detection of a murmur or hypertension during routine examination. Typical clinical features are delayed or absent femoral pulses and difference in blood pressure between the arm and legs. These symptoms may appear in the first weeks of life or after the neonatal period. CoA accounts for 4-6% of all congenital heart defects and has a reported prevalence of about 4 per 10,000 live births. It is more common in males than females (59% vs 41%). This Utility Gene Test was developed on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.