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M Ruggieri

Publications and source records attributed to M Ruggieri.

At least 19 recordsLinked to original sources
PubMed2001

The clinical and diagnostic implications of mosaicism in the neurofibromatoses.

Neurofibromatosis type 1 and type 2 both occur in mosaic forms. Mosaicism results from somatic mutations. Early somatic mutations cause generalized disease, clinically indistinguishable from nonmosaic forms. Later somatic mutation gives rise to localized disease often described as segmental. In individuals with mosaic or localized manifestations of neurofibromatosis type 1 (segmental neurofibromatosis type 1), disease features are limited to the affected area, which varies from a narrow strip to one quadrant and occasionally to one half of the body. Distribution is usually unilateral but can be bilateral, either in a symmetric or asymmetrical arrangement. Patients with localized neurofibromatosis type 2 have disease-related tumors localized to one part of the nervous system; for example a unilateral vestibular schwannoma with ipsilateral meningiomas or multiple schwannomas in one part of the peripheral nervous system. The recognition of mosaic phenotypes is important. Individuals with the mosaic form, even with a generalized phenotype, are less likely to have severe disease. They also have lower offspring recurrence risk than individuals with the nonmosaic form. The mosaic forms of neurofibromatosis provide a good example of the effects of somatic mutation. It is increasingly recognized that mild and unusual forms of many dominantly inherited disorders are caused by the same mechanism.

Humans↗
PubMed2001

LFA-1 expression on CD4(+)CD45RO(+) peripheral blood T-lymphocytes in RR MS: effects induced by rIFNbeta-1a.

We investigate the in vivo and in vitro effects of short-term treatment with recombinant Interferon beta-1a (rIFNbeta-1a) on CD4(+)CD45RO(+) activated/memory peripheral blood T-lymphocytes (PBTLs) expressing Leukocyte Function Antigen-1 (LFA-1; CD11a/CD18) in relapsing-remitting (RR) Multiple Sclerosis (MS) patients. Blood samples were obtained from 10 RR MS patients before and after 2, 4 and 6 months of rIFNbeta-1a (Avonex) treatment. For each sample, the percentage of CD4(+)CD45RO(+)CD11a(+) (CD11a(dim) and CD11a(bright)) T-cells was evaluated in in vivo PBTLs and in untreated or rIFNbeta-1a (1000 U/ml) or recombinant soluble Intercellular Adhesion Molecule-1 (ICAM-1, the ligand for LFA-1) (400 ng/ml) treated cultured PBTLs by triple fluorescence flow-cytometry (FACS analysis). Soluble ICAM-1 (sICAM-1) serum levels were evaluated by ELISA. In vivo, the percentage of CD4(+)CD45RO(+), CD4(+)CD45RO(+)CD11a(+), CD4(+)CD45RO(+)CD11a(dim) PBTLs increased after 4 and 6 months of rIFNbeta-1a treatment compared to pretreatment and 2 months of treatment (p<0.05). The CD11a expression per se did not change during the time course. Soluble ICAM-1 (sICAM-1) serum levels also increased (p<0.05) after 4 and 6 months of treatment. When T-cells, obtained from the blood of the same patients before and during in vivo treatment, were cultured either untreated or treated with rIFNbeta-1a, they showed an increase in the percentage of CD4(+)CD45RO(+) T-cells expressing CD11a(bright) (p<0.05). The addition of recombinant sICAM-1 to untreated cultures decreased the percentage of CD4(+)CD45RO(+) T-cells expressing CD11a. This last finding seems to support an indirect effect in vivo of rIFNbeta-1a via sICAM-1 on this T-cell subset, since the ICAM-1 soluble form, induced in vivo in serum by rIFNbeta-1a but lacking in in vitro conditions, keeps the percentage of CD11a(+) unchanged within CD4(+)CD45RO(+) T-cells and induces their expression of CD11a(dim), probably preventing T-cells from transmigrating.

Adjuvants, Immunologic↗
PubMed2001

Autoimmune thyroiditis and acquired demyelinating polyradiculoneuropathy.

Guillain-Barrè syndrome (GBS) and Miller-Fisher syndrome (MFS) are variant forms of acquired demyelinating polyradiculoneuropathy. Their concurrence with immune disorders of the thyroid is infrequent. We report on a 7.5-year-old girl in whom a subclinical thyroiditis was concurrently detected to GBS and a 70-year-old woman with Hashimoto's thyroiditis (HT) who had recurrent MFS. Even though autoimmune thyroiditis is associated with many autoimmune disorders more often than would be expected by chance alone, its concurrence with immune disorders of the peripheral nerve is less frequently reported. The calculated coincidental concurrence of acquired demyelinating polyradiculoneuropathy (in both variants, MFS and GBS) and autoimmune thyroiditis (as in the present cases) was extremely low (0.0004%), thus suggesting common pathogenic mediators.

Aged↗
PubMed2001

Lack of progression of brain atrophy in Aicardi-Goutières syndrome.

Aicardi-Goutières syndrome is a severe and progressive familial encephalopathy that is characterized by acquired microcephaly, intracranial calcification (mainly of the basal ganglia), signs of white matter disease, and chronic lymphocytosis with elevated levels of interferon-alpha in the cerebrospinal fluid in the absence of other evidence of infection. Although the degree of calcification and the severity of brain atrophy are variable, typically the brain lesions appear to progress on successive examinations. In this article a 4-year-old male patient with Aicardi-Goutières syndrome who manifested the typical neurologic signs of the disease was re-evaluated. The evaluation revealed, on successive cranial computed tomography and magnetic resonance imaging scans, increasing calcification with remarkable reduction of brain atrophy. To the best of our knowledge, there is only one previously mentioned study of a 4-year-old female patient with progressive features of Aicardi-Goutières syndrome, including intracranial calcification, who displayed a lack of progression of brain atrophy at MRI scan.

Atrophy↗
PubMed2001

Dystonia as acute adverse reaction to cough suppressant in a 3-year-old girl.

Cough suppressant preparations containing mixtures of dextromethorphan or codeine with antihistamines, decongestants (sympathomimetic), expectorants and antipyretics with either sedative or anticholinergic activity have been associated with dystonic reactions in children. We report on a 3-year-old girl who presented with episodic stiffness and abnormal posturing with rigidity after arbitrary maternal administration of a mixture of methylcodeine and extract from Hedera plant.

Antitussive Agents↗
PubMed2001

[Simultaneous bilateral pneumothorax. Case report].

A case report of a 44 year-old white man admitted to the surgical unit for a bilateral simultaneous pneumothorax is presented. The pneumothorax occurred on day one after a surgical operation for discal hernia; in the past the patient already presented a right spontaneous pneumothorax at 32 years of age and a left pneumothorax at 37 years of age, both treated with a pleural drainage. A thoracic drain was bilaterally positioned with a good result only in the right side. The persistence of the left pneumothorax induced the authors to perform a postero-lateral thoracotomy bullae excision and pleurectomy with a good postoperative course. After a few months a new right pneumothorax occurred and the patient was treated with a right postero-lateral thoracotomy, bullae resection and pleurectomy. On the basis of the case reported, the authors consider the different opportunities in the treatment of spontaneous pneumothorax in relation to the present knowledges and technologies. Surgical procedure is to be preferred in case of persistence of pneumothorax despite a pleural drain and in case of pneumothorax in high risk subjects. Even if thoracoscopy seems to give better results regarding postoperative pain, it is not always possible with such a method to perform a careful pleurectomy neither to obtain it in all cases (above all in secondary pneumothorax). Every case must then be carefully studied to choose the best treatment at present available.

Adult↗
PubMed2001

Lymph node dissection in surgical treatment of esophageal neoplasms.

BACKGROUND: Until now therapy of carcinoma of the esophagus has presented an aura of pessimism, resulting in an attitude among physicians that cure was impossible. Presently the overall 5-year survival is between 38.3% and 55% thanks to new radical surgical techniques. The aim of this work is to evaluate lymph node dissection in treatment of esophageal carcinoma by analyzing morbidity, mortality, survival and quality of life. METHODS: From 1975 to 1995, 170 patients with carcinoma of the esophagus and cardia underwent operation, of whom 165 underwent 2-field lymphadenectomy and four 3-field lymphadenectomy; one patient was submitted to self-transplanting jejunal loop to neck. One hundred and twenty-two patients had standard resection and 47 en bloc resection. RESULTS: Lymph node involvement is often found in patients with superficial carcinoma and it greatly influences outcome after esophagectomy. In 2-field lymphadenectomy morbidity and mortality are more frequent in en bloc resections; global 3-year survival was better in patients with early lesions. Three-field lymphadenectomy was performed in only few cases, not sufficient to express a definitive opinion. CONCLUSIONS: On the basis of our experience, we conclude that the better survival is particularly dependent on early diagnosis, histological type of neoplasia and following surgical treatment, especially on the type of resection with 2 or 3-field lymphadenectomy.

Aged↗
PubMed2000

Cutis tricolor: congenital hyper- and hypopigmented lesions in a background of normal skin with and without associated systemic features: further expansion of the phenotype.

UNLABELLED: The term cutis tricolor describes the uncommon co-existence of congenital hyper- and hypopigmented macules, in close proximity to each other, in a background of normal skin so far seen in a 17-year-old patient with various other congenital defects. The suggested explanation for this phenomenon is allelic twin spotting. We report on two boys, aged 6 and 11 years, with an unusual combination of three different degrees of pigmentation, one of whom had in addition, psychomotor delay, dysmorphic features, musculoskeletal abnormalities and subcortical and periventricular white matter high signal lesions on brain neuroimaging. In both cases a search for mosaicism in peripheral blood lymphocytes and cultured fibroblasts was negative. In contrast to the previously reported case, the two children had large streaks or patches of hyper- and hypopigmented skin lesions, in close proximity to each other, involving large areas of the body. The rest of the skin had a normal intermediate pigmentation. CONCLUSION: This combination of three degrees of pigmentation in association with systemic defects in one child and the lack of such association in the other confirms and further expands the clinical phenotype of cutis tricolor.

Brain↗
PubMed2000

Cathepsin D is a marker of ganglion cell differentiation in the developing and neoplastic human peripheral sympathetic nervous tissues.

Cathepsin D (CD) is an aspartic proteinase which has been immunolocalised in intestinal ganglion cells of human neonates and adults. The aim of the present study was to define whether CD is a reliable ganglion cell differentiation marker in routinely fixed, paraffin-embedded tissues. For this purpose, we investigated immunohistochemically the expression and distribution of CD in the developing human peripheral sympathetic nervous system (PSNS) and gastroenteric nervous system (GENS), and in childhood neuroblastic tumours (NTs; neuroblastomas, ganglioneuroblastomas and ganglioneuromas), where ganglion cells differentiate from immature neuroblastic cells. During ontogenesis, CD expression is restricted to ganglion cell lineage with a progressively more intense cytoplasmic staining, mirroring the morphological differentiation of ganglion cells with increasing gestational ages. In neoplastic tissues, CD immunoreactivity was restricted to neuroblastic cells showing morphological features of gangliocytic differentiation (differentiating neuroblastomas, ganglioneuroblastomas) as well as to neoplastic ganglion cells (ganglioneuroblastomas, ganglioneuromas). We conclude that CD is a reliable ganglion cell differentiation marker, which can be used routinely to stain developing and mature ganglion cells in formalin-fixed, paraffin-embedded tissues. Furthermore, our results indicate that CD immunoreactivity in childhood NTs recapitulates the changes during normal PSNS development, as previously reported for Bcl-2 oncoprotein, c-ErbB2, insulin-like growth factor 2 and beta2-microglobulin. This is consistent with the current view that childhood NTs exhibit gene expression profiles mirroring those occurring during PSNS ontogenesis.

Adult↗
PubMed2000

Multiple coronary artery aneurysms in a child with neurofibromatosis type 1.

UNLABELLED: A number of frequently unrecognised vascular manifestations have been described in patients with neurofibromatosis type 1 (NF1), including involvement of the great vessels, cerebral, visceral and renal arteries. Rarely, changes in the coronary arteries have been reported in adults with NF1. We report on a 16-year-old boy affected by NF1 with dysmorphic features and three aneurysms in the mid-portion of the left descending coronary artery disclosed by chance during investigation for a malignant peripheral nerve sheath tumour. Molecular analysis detected a gross de novo deletion in the NF1 gene. The boy had had no previous cardiac symptoms but died suddenly after developing signs and symptoms suggestive of myocardial infarction. CONCLUSION: To the best of our knowledge, this represents the first report of multiple lesions in the coronary arteries in a child affected by neurofibromatosis type 1 with a known deletion of the neurofibromatosis type 1 gene.

Abnormalities, Multiple↗
PubMed2000

Solitary neurofibroma of the mesentery: report of a case and review of the literature.

Neurofibromas of the gastrointestinal tract are usually associated with neurofibromatosis type 1 (Nfl), or they are exclusive manifestations of the so-called "familial intestinal neurofibromatosis". Gastrointestinal neurofibromas can rarely occur as sporadic lesions in the jejunum and stomach, and only exceptionally in the mesentery. A critical review of the literature revealed that only seven cases of solitary neurofibromas (SNFs) of the mesentery (six in the ileal mesentery; one in the gastrocolic mesentery) have been reported in patients without stigmata of Nf1. We report the clinicopathologic features of an additional case of SNF of the ileal mesentery, incidentally found in a patient with an advanced gastric carcinoma. Since there is increasing evidence that some patients may have some features of Nf1, including dermal or nodular SNFs alone - limited to one or more body segments - (segmental Nf1), the possibility that SNFs of the mesentery may also represent a segmental manifestation of Nf1 is postulated.

Adenocarcinoma↗