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Biomedical subjects

M Arico

Publications and source records attributed to M Arico.

At least 19 recordsLinked to original sources
PubMed2006

Risk factors for diabetes insipidus in langerhans cell histiocytosis.

BACKGROUND: Diabetes insipidus (DI) is the most frequent central nervous system (CNS)-related permanent consequence in Langerhans cell histiocytosis (LCH), which mostly requires life-long hormone replacement therapy. In an attempt to define the population at risk for DI, 1,741 patients with LCH registered on the trials DALHX 83 and DALHX 90, LCH I and LCH II were studied. RESULTS: Overall 212 of 1,741 patients (12%) was reported to have DI. In 102 of 1,741 patients (6%) DI was present at diagnosis of LCH. One thousand one hundred eighty three of 1,539 patients without DI at diagnosis had follow up information. One hundred ten of these (9%) later developed DI. The risk of developing DI was 20% at 15 years after diagnosis. Multisystem disease patients at diagnosis carried a 4.6-fold risk for DI compared to single system patients. Craniofacial lesions, in particular in the "ear," "eye," and oral region were associated with a significantly increased risk for DI (relative hazard rate, RHR 1.7), independent of the extent of disease. No influence of the duration of therapy could be determined, but the duration of initial disease activity (RHR 1.5) and the occurrence of reactivations (RHR 3.5) significantly increased the risk for DI. CONCLUSIONS: Patients with multisystem disease and craniofacial involvement at diagnosis, in particular of the "ear," "eye," and the oral region carry a significantly increased risk to develop DI during their course. This risk is augmented when the disease remains active for a longer period or reactivates.

Clinical Trials as Topic↗
PubMed2001

Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene.

The hemophagocytic lymphohistiocytoses (HLH) comprise a heterogeneous group of disorders characterized by dysregulated activation of T cells and macrophages. Although some patients with HLH harbor perforin gene mutations, the cause of the remaining cases is not known. The phenotype of HLH bears a strong resemblance to X-linked lymphoproliferative disease (XLP), an Epstein-Barr virus (EBV)-associated immunodeficiency resulting from defects in SH2D1A, a small SH2 domain-containing protein expressed in T lymphocytes and natural killer cells. Here it is shown that 4 of 25 male patients with HLH who were examined harbored germline SH2D1A mutations. Among these 4 patients, only 2 had family histories consistent with XLP. On the basis of these findings, it is suggested that all male patients with EBV-associated hemophagocytosis be screened for mutations in SH2D1A. Patients identified as having XLP should undergo genetic counseling, and be followed long-term for development of lymphoma and hypogammaglobulinemia.

Carrier Proteins↗
PubMed2001

A randomized trial of treatment for multisystem Langerhans' cell histiocytosis.

OBJECTIVE: To compare 2 active agents, vinblastine and etoposide, in the treatment of multisystem Langerhans' cell histiocytosis (LCH) in an international randomized study. STUDY DESIGN: One hundred forty-three untreated patients were randomly assigned to receive 24 weeks of vinblastine (6 mg/m(2), given intravenously every week) or etoposide (150 mg/m(2)/d, given intravenously for 3 days every 3 weeks), and a single initial dose of corticosteroids. RESULTS: Vinblastine and etoposide were equivalent (P > or = .2) in all respects: response at week 6 (57% and 49%); response at the last evaluation (58% and 69%); toxicity (47% and 58%); and probability of survival (76% and 83%) [corrected], of disease reactivation (61% and 55%), and of developing permanent consequences (39% and 51%) including diabetes insipidus (22% and 23%). LCH reactivations were usually mild, as was toxicity. All children > or = 2 years old without risk organ involvement (liver, lungs, hematopoietic system, or spleen) survived. With such involvement, lack of rapid (within 6 weeks) response was identified as a new prognostic indicator, predicting a high (66%) mortality rate. CONCLUSIONS: Vinblastine and etoposide, with one dose of corticosteroids, are equally effective treatments for multisystem LCH, but patients who do not respond within 6 weeks are at increased risk for treatment failure and may require different therapy.

Adolescent↗
PubMed1998

Reduced Tyk2/SHP-1 interaction and lack of SHP-1 mutation in a kindred of familial hemophagocytic lymphohistiocytosis.

Familial hemophagocytic lymphohistiocytosis (FHLH) is an autosomal recessive disease with features similar to those of the murine motheaten phenotype resulting from mutations of protein tyrosine phosphatase SHP-1. This has raised the possibility that defects in SHP-1 or SHP-1-regulated signaling molecules may be present in FHLH. In this study, we examined SHP-1 protein and transcript in the peripheral blood mononuclear cells (PBMC) of an FHLH family. Our results show that the FHLH patient and the parents express comparable levels of a single SHP-1 protein and that the SHP-1 cDNA clone from the patient contains no mutation in the coding region. Interestingly, a reduced association of SHP-1 with the Jak family kinase Tyk2 was detected in the patient and the defect appears to have been inherited from one of the parents. This reduced SHP-1/Tyk2 association is likely due to a defect in Tyk2 or in cellular factors regulating Tyk2, because we found no abnormalities in SHP-1 or in SHP-1 association with the other Jak kinases. These data demonstrate that the SHP-1 gene is intact in FHLH and that the defect in some cases with this disease may involve signaling molecules regulated by SHP-1.

Adult↗
PubMed1997

Chronic myelomonocytic leukemia in childhood: a retrospective analysis of 110 cases. European Working Group on Myelodysplastic Syndromes in Childhood (EWOG-MDS)

Chronic myelomonocytic leukemia (CMML) is a rare hematopoietic malignancy of childhood. To define the clinical and hematologic characteristics of the disease, we performed a retrospective analysis of 110 children given the diagnosis CMML irrespective of karyotype. Median age at diagnosis was 1.8 years. Neurofibromatosis type 1 was known in 14% and other clinical abnormalities in 7% of the children. At presentation, the medium white blood count was 35 x 10(9)/L, with a median monocyte count of 7 x 10(9)/L. Karyotypic abnormalities in bone marrow cells were noted in 36% of the patients, whereas 26% of the children had monosomy 7. Children with monosomy 7 did not differ from those with normal karyotype with respect to their clinical presentation. However, they did display some characteristic hematologic features. Of 110 children, 38 received an allogeneic bone marrow transplant (BMT). The probability of survival at 10 years was 0.39 (standard error [SE] = 0.10) for the BMT group and 0.06 (SE = 0.4) for the 72 patients of the non-BMT group. Platelet count, age, and hemoglobin F at diagnosis were the main predicting factors for the length of survival in the non-BMT group. There is a strong need for a broad agreement on nomenclature in children with myelodysplastic syndromes (MDS). We propose here to use the French-American-British classification for MDS in childhood.

Bone Marrow Transplantation↗
PubMed1997

Contemporary classification of histiocytic disorders. The WHO Committee On Histiocytic/Reticulum Cell Proliferations. Reclassification Working Group of the Histiocyte Society.

Pathologists and pediatric hematologist/ oncologists of the World Health Organization's Committee on Histiocytic/Reticulum Cell Proliferations and the Reclassification Working Group of the Histiocyte Society present a classification of the histiocytic disorders that primarily affect children. Nosology, based on the lineage of lesional cells and biological behavior, is related to the ontogeny of histiocytes (macrophages and dendritic cells of the immune system). Dendritic cell-related disorders of varied biological behavior are dominated by Langerhans cell histiocytosis, but separate secondary proliferations of dendritic cells must be differentiated. Juvenile xanthogranuloma represents a disorder of dermal dendrocytes, another dendritic cell of skin. The hemophagocytic syndromes are the most common of the macrophage-related disorders of varied biological behavior. Guidelines for distinguishing the exceedingly rare malignant diseases of histiocytes from large cell lymphomas through the use of a battery of special studies are provided.

Cell Lineage↗
PubMed1997

Long-term pulmonary sequelae after treatment of childhood Hodgkin's disease.

BACKGROUND: Pulmonary sequelae have been reported in patients treated for Hodgkin's disease (HD). Few data are available about patients treated for childhood HD followed over several years. PATIENTS AND METHODS: In a cross-sectional study carried out for 76 months (median time) after treatment completion, we evaluated the lung function abnormalities and respiratory symptoms in 27 patients (16 males and 11 females) with HD diagnosed between 1983 and 1994 (median age at diagnosis 11 years, range 2-16 years). They had been treated with chemotherapy and radiotherapy according to current protocol AIEOP-MH 83 (n = 14) or AIEOP-MH 89 (n = 13). At the time of the study, 26 patients were in first complete remission and one in second remission. Of the 27 patients, 19 had had mediastinal irradiation at a dose of 20 Gy (n = 5) or 20.8-44 Gy (n = 14). Forced vital capacity (FVC), functional residual capacity (FRC), forced expiratory volume in one second (FEV1), FEV1/FVC ratio, and maximal expiratory flow at 25% of FVC were registered; diffusion capacity for carbon monoxide (DLCO) was determined. Data were expressed as standard deviation (SD) score. Four patterns of respiratory function abnormalities were defined: restrictive, obstructive, isolated bronchiolar impairment, isolated diffusing impairment. RESULTS: Twelve patients (44%) were asymptomatic and showed completely normal pulmonary function tests. Three patients reported dyspnea on exertion, and one of them also cough and phelgm: out of these symptomatic subjects, only 1 had functional abnormality (isolated DLCO impairment). A restrictive pattern was found in 5 patients (18%), including 2 who also had a pathological DLCO SD score. Eight additional patients (30%) had isolated diffusing impairment. Oxygen saturation was normal in all patients. Forty-seven percent of patients with normal DLCO had had lower dose irradiation (20 Gy) compared to 10% of patients with impaired DLCO (P = 0.054). Similarly, patients with normal DLCO had had significantly less chemotherapy as compared to patients with abnormal DLCO (P = 0.003). Occurrence of lung abnormalities was not significantly associated with sex, age at treatment, mediastinal irradiation, and time elapsed from treatment completion. CONCLUSION: Adolescents and young adults treated for childhood HD are at risk for lung function abnormalities, significantly more frequent in patients who received more intense treatment, as mediastinal irradiation at a higher dose (> 20 Gy) and more chemotherapy blocks. Long-term follow-up should be offered to these patients because of their possible limited potential for pulmonary function and possible lesser resistance to adverse agents such as smoke, pollution, infections and aging.

Adolescent↗
PubMed1992

Correlation between magnetic resonance imaging of posterior pituitary and neurohypophyseal function in children with diabetes insipidus.

The posterior pituitary lobe and stalk were studied by magnetic resonance imaging in 20 children with diabetes insipidus of different origins: primary familial autosomal dominant (n = 2) or idiopathic (n = 2), and secondary to craniopharyngioma (n = 6, resected in 5), to Langerhans cell histiocytosis (n = 5), to excessive water intake (dipsogenic; n = 3), to renal vasopressin insensitivity (n = 1), and to osmoreceptor dysfunction (n = 1). Of the four children with primary diabetes insipidus, the posterior bright signal was recognizable in two with the familial autosomal dominant form and one with the idiopathic form; in the latter, the pituitary stalk was thin, while it was normal in the first two patients; no posterior hyperintense signal with enlarged and gadolinium-enhanced pituitary stalk was observed in the fourth. The posterior hyperintense signal was absent without evidence of ectopic posterior pituitary tissue regeneration in five children with surgically removed craniopharyngioma and was doubtful in the child with unresected craniopharyngioma; the stalk was unrecognizable in all patients. In the five children with Langherans cell histiocytosis, the posterior bright signal was absent, while the stalk was normal in two and unexpectedly enlarged in three (uniformly in two and mainly at the level of median eminence and hypothalamus in one). All five patients with dipsogenic or nephrogenic diabetes insipidus or osmoreceptor dysfunction had normal images of posterior pituitary lobe and stalk. Normal posterior pituitary bright signal and stalk were found in all 25 healthy control children. Plasma vasopressin was undetectable in all patients except in nephrogenic one, in the child with osmoreceptor dysfunction, and in two of three dipsogenic children, the third mimicking partial neurogenic diabetes insipidus.(ABSTRACT TRUNCATED AT 400 WORDS)

Adolescent↗
PubMed1992

Brain tumours in infants. Preferred treatment options.

Since the advent of CT scan and MRI, the diagnosis of neonatal infantile brain tumours and related diseases is more easily accomplished; their rarity is reflected in the small number of cases reported. Astrocytomas and teratomas are the most common oncotypes in infants and particularly in neonates. Surgical mortality rates are not high and have decreased because of the advances of diagnosis and improvements in treatment. However, the survival rates are disappointing. Follow-up shows little improvement in last 2 decades. Adjuvant therapy is still a problem; radiotherapy gives a small percentage of favourable later neuropsychological results. Postoperative chemotherapy added to maximal surgical resection and delayed irradiation may prolong survival with only minimal short term neurotoxicity in very young children with malignant tumours. Different protocols of chemotherapy are suggested but still not definitely accepted. Radical surgery seems to have a higher chance of success in neonates than infants and remains the less aggressive means; in low grade gliomas after total removal it may be preferable to perform a second operation if the tumour recurs and withhold irradiation and chemotherapy until after 3 years of age.

Brain Neoplasms↗
PubMed1992

[The direct and computed radiographic assessment of vertebral locations in children with acute lymphatic leukemia].

The children affected with acute lymphoblastic leukemia (ALL) often exhibit secondary lesions of the spine. The diagnosis of spinal involvement is currently made by means of conventional radiography in postero-anterior and lateral views. The osteolytic lesions of the vertebral body present with collapse of the vertebral plates in a wide range of severity. Body evaluation is usually made by comparison with the adjacent vertebrae. Since leukemia is a systemic disease, several vertebrae are possibly involved in each case. In the attempt to develop a more sensitive method, which is less dependent on observers' evaluation, a quantitative and comparative analysis of vertebral bodies was performed. The radiographs in lateral view of the dorsal and lumbar spine of 14 children with ALL were analyzed: previous radiological reports suggested the lesion of one or more vertebral bodies. The area of each vertebral body was measured and digitalized by means of a backlighted graphic table and of a software developed to this purpose. The criteria to define the collapse of a vertebral body were the ratio between areas of adjacent vertebral bodies, in conformity to the anatomic and radiographic principle that, in the dorsal and lumbar spine, the body of a normal vertebra is equal to or bigger than that of the upper one. The data obtained by quantitative analysis were compared with conventional radiologic reports. A hundred and fifty-five vertebrae were analyzed by computerized analysis; 17 (10.9%) vertebrae, undetected at conventional analysis, were collapsed. This method allows a more precise diagnosis of collapsed vertebral lesions; its accuracy can be improved with further development of digital technology.

Adolescent↗
PubMed1990

Primary sacral bone tumours in children (report of 16 cases with a short literature review).

16 cases of primary sacral bone tumours in children are reported. These include 13 patients with Ewing's sarcoma and 3 with very rare primary sacral bone tumours in childhood--chordoma, haemangiopericytoma and osteoblastoma. All sacral bone tumours, with the exception of Ewing's sarcoma are very rare in childhood. The possibility of a sacral tumour should be considered in a child with radiculopathy. CT and MR make the diagnosis of primary sacral bone tumours much easier with the added possibility of recognition of the true nature of the lesion in many instances. Reports of primary sacral bone tumours in children are scarce. Most of the patients are incorporated in adult series which do not specify the age of the child and the site of the tumour. The purpose of this paper is to describe 16 children with primary sacral bone tumours.

Child↗
PubMed1989

Primary bone tumours of the pelvis in childhood--Ewing's sarcoma of the ilium, pubis and ischium (report of 30 cases). (Part I).

30 children with Ewing's sarcoma, the most common malignant pelvic tumour in childhood, were analysed. The diagnosis of Ewing's sarcoma is relatively easy and can be established in most of the cases on plain radiography. The diagnostic radiographic features of the tumour are discussed. The two most important conditions in differential diagnosis are eosinophilic granuloma and the rare primary bone lymphoma. Osteomyelitis should rarely cause confusion unless the clinico-radiographic findings are not properly evaluated.

Bone Neoplasms↗
PubMed1989

Rare, primary iliac, pubic and ischial tumours in children (report of 14 cases)--Part II.

14 cases of rare, primary iliac, pubic and ischial bone tumours or tumorous conditions are reported. These include aneurysmal bone cyst, eosinophilic granuloma, cavernous haemangioma, osteoid osteoma, fibrous dysplasia, fibrous dysplasia with sarcomatous degeneration, chondrosarcoma, lymphoma and atypical malignant histiocytosis. The possibilities to be considered in the accurate radiographic recognition of primary tumours of iliac, pelvic and ischial bones are discussed.

Bone Cysts↗
PubMed1985

Primary bone tumours in infants. Short literature review and report of 10 cases.

Ten cases of primary bone tumours in infants (1 osteosarcoma, 3 Ewing's sarcoma, 1 chondroblastoma and 5 angiomatosis) are reported. All cases of angiomatosis showed characteristic radiographic findings. In all the other tumours the X-ray appearances were different from those usually seen in older children and adolescents. In the authors' opinion the precise diagnosis of malignant bone tumours in infancy is very difficult as no characteristic X-ray features are present in this age period.

Angiomatosis↗