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Biomedical subjects

A Nigro

Publications and source records attributed to A Nigro.

At least 19 recordsLinked to original sources
PubMed2006

Screening for children from families with Rendu-Osler-Weber disease: from geneticist to clinician.

BACKGROUND: Rendu-Osler-Weber syndrome, or hereditary hemorrhagic telangiectasia (HHT), is an autosomal dominant vascular disorder. The syndrome is characterized by telangiectases and arteriovenous malformations (AVMs) affecting skin, mucosae and internal organs. AVMs often remain clinically silent until provoking sudden serious complications, responsible for important morbidity and mortality which can occur both in adulthood and in children. The incidence of AVMs in HHT pediatric populations is unknown. OBJECTIVE: To describe the screening protocol performed in the first genotypically confirmed HHT pediatric population and to estimate the incidence of occult brain, lung and liver AVMs and the different disease phenotypes. MATERIALS AND METHODS: Molecular analysis was performed on 35 children, both symptomatic and asymptomatic, who were family members of probands with a previously identified mutation. Clinical-instrumental examination was performed on the mutation positive cases. Nasal telangiectases were investigated by anterior rhinoscopy. Contrast echocardiography and high resolution thoracic multislice computed tomography (CT) were performed to detect pulmonary arteriovenous malformations (PAVMs), and echo-color Doppler, and abdominal CT to detect hepatic arteriovenous malformations (HAVMs). Brain magnetic resonance imaging was utilized to detect cerebral angiopathic involvement. RESULTS: Molecular analysis demonstrated the mutation-carrier status in 22/35 children. Nineteen children, 12 of whom had epistaxis, positive to molecular testing underwent clinical evaluation. Nasal teleangiectases were found in 68%, mucocutaneous telangiectases (fingers, lips and oral cavity) in 79%, PAVMs in 53%, HAVMs in 47% and cerebral anteriovenous malformations and/or cerebral ischemic changes secondary to PAVMs in 12%. CONCLUSIONS: We evidenced a high incidence of HHT children with occult visceral lesions suggesting that a diagnostic screening may be indicated to appropriately treat brain and lung malformations.

Activin Receptors, Type II↗
PubMed2006

HHT in childhood: screening for special patients.

Hereditary hemorrhagic telangiectasia (HHT) or the Rendu-Osler-Weber disease is a systemic fibrovascular autosomal dominant dysplasia, recognised when three of the following four clinical manifestations are present, according to the proposal of Shovlin.: recurrent nosebleeds, lelangiectasias of the skin, visceral lesions, and positive family history. HHT is often difficult to diagnose on the basis of history and physical examination alone, especially in infants and children. The signs and symptoms of HHT are nonspecific and are extremely variable within families. Given the frequent occurrence of clinically silent lesions in lung and brain arteriovenous malformations which can result in morbidity or death, much consideration should be given to screening patients with HHT for asymptomatic fistulae and to their treating once they are discovered. Presymptomatic interventions in such cases may substantially affect the outcome. It may be possible to state that lesions of HHT arise early in life, but do not reach sufficient size to cause symptoms until the second decade. Furthermore, as clinical manifestations often occur later in life, the development and the implementation of a molecular diagnosis will allow the identification of subjects with no evident signs of the disease but carrying the familial mutation. This is fundamental in order to establish reliable screening protocols for the prevention and cure of the disease and, to determine the presence of family members with no disease-associated mutation, who do not require further clinical screening.

Aging↗
PubMed2005

Management of liver disease in thalassemia: main drug targets for a correct therapy.

Liver disease is the second cause of mortality in thalassemia major. We present a review on the hepatic damage in thalassemic patients aimed at a knowledge of current preventive, diagnostic and therapeutic approaches, useful to guide in clinical judgment and treatment decisions. Transfusion related iron overload and hepatitis are the causes of liver damage in thalassemic patients. We examined means of primary prevention, anti-hepatitis vaccinations, blood donors screening; diagnostic tests for secondary prevention (computed tomography, magnetic resonance imaging, super conducting quantum interference device and biopsy) were also discussed about. A survey of treatment methods and strategies ( chelation therapy, antiviral treatments and liver and bone marrow transplantation) follows.

Antiviral Agents↗
PubMed2004

[Prevention and treatment of congenital toxoplasmosis: organization protocol].

AIM: Prevention and treatment of congenital toxoplasmosis are still a matter of debate among obstetricians, pediatricians and epidemiologists. There is no consensus about antenatal screening and diagnostic tests, nor there is about treatment for presumed infection in pregnancy. As an example of this type of organisation for health care delivery, a regional model has been promoted as a multidisciplinary approach for prenatal diagnosis of congenital toxoplasmosis. The model had been designed on the national guidelines of the National Health Institute (Istituto Superiore di Sanità, ISS). METHODS: Suspected maternal infections are referred and seen as outpatients at our centre on a specific day of the week; maternal investigation (specific IgG, IgM, IgA and IgG avidity titres) are performed at the Institute of Virology of the University of Bari, and patients are started on spiramycin. All cases of true or presumed seroconversion are counselled for amniotic fluid sampling and the sample is sent to ISS. In cases of late seroconversion and positive amniotic fluid results, patients are prescribed pyrimethamine+sulphonamide+folinic acid and alternate spiramycin until the end of pregnancy. A fetal-neonatal follow-up is performed in all cases. RESULTS: During the period 1999-2001, 180 cases of presumed toxoplasmosis infection have been referred (average 60 cases per year). We have been able to reclute, since the adoption of the national network protocol, 1/3 of presumed regional cases with a positive increasing trend. CONCLUSION: The service for prenatal diagnosis of toxoplasma gondii infection has definitely benefitted from the adoption of this protocol, which combines adherence to a national network and pays respect to regional requirements.

Clinical Protocols↗
PubMed2001

Bullous pemphigoid in Liguria: a 2-year survey.

BACKGROUND: The epidemiology of bullous pemphigoid (BP) is not clear because of the heterogeneity of the disease, and its possible association with internal malignancies has been under debate for many years. We report the findings of a 2-year study on incident BP cases in the Liguria region of Italy. SUBJECTS AND METHODS: Thirty-two patients with BP were collected over the 2-year period. Diagnosis was made based on clinical findings and confirmed by histology, direct immunofluorescence (DIF) and indirect immunofluorescence (IIF) with salt-split skin and monkey oesophagus, and immunoblotting (IB). All patients were thoroughly investigated for possible malignancies and all were followed up for 6 months to monitor the response to treatment. RESULTS: DIF showed linear deposits at the dermoepidermal junction in all but one patient. IIF gave positive findings for 15 sera tested with monkey oesophagus and 20 tested with salt-split skin. IB gave positive findings in 19 cases. There was a malignancy in six cases, but no clinical or immunological features that could be considered to predict this occurrence. CONCLUSIONS: The findings of this study are in accordance with most of the data found in the literature, including the fact that IgG serum levels did not predict the course of the disease. Contrary to previous indications, IgE levels were not indicative of disease course either. Mucosal lesions, erythema multiform-like lesions, negative IIF findings and antibodies to AgPB2 were not a prediction for the development of malignancy.

Aged↗
PubMed2000

Papular-purpuric gloves and socks syndrome in HIV-positive patients.

Three HIV-positive women showed clinical signs of papular-purpuric gloves and socks syndrome and serologic evidence of acute Parvovirus B19 infection. The course of the disease was complicated by anemia and persistent skin lesions, probably related to inadequate immune response. Because anemia in AIDS patients may be due to many causes, the history of recent Parvovirus B19 infection is helpful in suggesting the etiologic diagnosis.

AIDS-Related Opportunistic Infections↗
PubMed1995

[Lichen planus and thymoma. A case].

INTRODUCTION: Lichen planus is a chronic inflammatory disease of the skin, rarely associated with a thymoma. CASE REPORT: A 72-year-old woman with erosive buccal lichen, hypertrophic lichen planus of the lower limbs, severe myasthenia and acquired hypogammaglobulinaemia associated with thymoma. CD8 lymphocyte count was increased. In the months following surgical ablation of the thymoma, the clinical examination and laboratory findings progressively returned to normal. Two years later, the patient was in good health. DISCUSSION: To our knowledge, this is the first report of favourable outcome after surgical treatment despite the aggressive symptomatology. The particular outcome allow confirmation that the thymoma plays a causal role in this syndrome and emphasizes the effects a thymoma can have on the immune system.

Agammaglobulinemia↗
PubMed1993

[The parenteral administration of essential amino acids in patients on periodic hemodialysis treatment. A pilot study].

In an attempt to improve the nutritional status of seven hemodialysed patients, 500 ml of a 5.5% nephrological essential amino acid solution (EAA) were administered during each dialysis session for 2 months. At the end of this treatment, a significant increase in albuminemia was found (p < 0.05). These results are an encouragement to continue this therapy, especially if it is kept in mind that the half-life of albumin is much shorter than the period of EAA administration.

Adolescent↗
PubMed1992

Cutaneous cryptococcosis resembling molluscum contagiosum in a homosexual man with AIDS. Report of a case and review of the literature.

A 43-year-old homosexual man with the Acquired Immunodeficiency Syndrome (AIDS) developed cutaneous molluscum contagiosum-like lesions on face, ears, neck, hands and feet. He was admitted to our unit with fever, malaise and headache. Cytologic examination of skin brushing revealed numerous encapsulated budding yeasts, identified as Cryptococcus neoformans. Such a finding calls for a cytologic examination of skin lesions in patient with AIDS who present with fever and headache, in order to rule out a potentially life-threatening fungal infection.

Acquired Immunodeficiency Syndrome↗
PubMed1992

[Mibelli's porokeratosis after bone marrow transplantation].

A 24-year old male patient developed, on both legs, lesions typical of Mibelli's porokeratosis 22 months after bone marrow transplantation, under treatment with cyclosporin A. He denied any family history. Mibelli's porokeratosis seldom develops after an immunosuppressive treatment, and to our knowledge it has exceptionally been described after bone marrow transplantation. A possible complication of Mibelli's porokeratosis is the development of Bowen's disease, basal or squamous cell carcinomas. Immunosuppressive treatment might facilitate the degeneration. For this reason, these subjects should be periodically and carefully examined.

Adult↗