Myositis ossificans traumatica of the medial pterygoid muscle following a third molar extraction.

Myositis ossificans (MO) is a rare disease involving heterotopic ossification in the muscle or soft tissue. Myositis ossificans traumatica (MOT) disease presents as a calcification within the injured muscle, resulting from a single or repetitive injury. There are few reports of MOT in the masticatory muscles. The case of a patient with MOT in the medial pterygoid muscle caused by a complication related to the extraction of an erupted upper third molar is reported. The major symptom was severe trismus. Despite surgical treatment, the disease relapsed. MOT can lead to serious consequences for the patient. Its aetiopathogenesis needs to be better understood, so that the most appropriate treatment is established and relapses are minimized. This will improve the quality of life of these patients.

Arthrogryposis, cholestatic pigmentary liver disease and renal dysfunction: report of a second family.

We report on a boy, born to consanguineous parents, who had arthrogryposis, cholestatic liver disease, and renal dysfunction. The child died at age 2 months, and autopsy showed pigmentary storage disease in liver cells, nephrocalcinosis, and rarefaction of motor neuron cells in the anterior horns of spinal cord. This association, reported in 1979 by Nezelof et al., is a distinctive syndrome. The possibility of an autosomal recessive or an X-linked inheritance is discussed.

Fiberoptic bronchoscopy and bronchoalveolar lavage for the evaluation of pulmonary infiltrates after BMT in children.

Thirty-one fiberoptic bronchoscopies and BAL performed within 4 days after the appearance of pulmonary infiltrates in 28 children who received BMT were reviewed. A causative agent was identified in 67% of patients with diffuse infiltrates (Cytomegalovirus in 8 cases, Pneumocystis carinii in 4) and in 31% of those with localized infiltrates (Aspergillus in 2, bacteria in 2). No relevant side effect was reported. The results obtained from cytological and microbiological testing provided relevant informations for the management of most cases, regardless to the identification of a specific pathogen. We conclude that BAL is a safe diagnostic procedure that should be considered early after the onset of pulmonary complications in BMT recipients.

Scanning electron microscopy study of small bowel biopsies in chronic diarrhoea in childhood.

In this study we have compared the results of Scanning Electron Microscopy (SEM) with Light- and Stereomicroscopy in a series of small bowel biopsies in children. In 9 cases displaying features of partial or subtotal atrophy, Light and Dissecting-Microscopy yielded similar results. The distinction between coeliac and non-coeliac chronic diarrhoea was only possible on clinical grounds, and by the immunological detection of specific antibodies. On SEM however coeliac patients showed characteristic alterations consisting of: absence of villi; prominent crypt outlets resulting in a mosaic appearance; concentric furrows running all around the openings; and downy brush feature at high power. The microvilli were loosely distributed and had an irregular pleomorphic outline; they often displayed a drumstick swelling of the tip and were bent. In contrast, non-coeliac chronic diarrhoea cases were characterized by a thick mucous layer on the mucosal surface, that made it impossible to visualize further changes. Peculiar vascular changes in lymphangiectasia and in sickle beta thalassemia could be detected only by Light Microscopy. In addition, in the lymphangiectasia case SEM allowed the detection of enteroadherent bacteria; and in the lambliasis case, of pseudomembranes. Absence of glycocalyx was noted both in controls and in patients. The results of this study point to a diagnostic utility of SEM particularly in the differential diagnosis of chronic diarrhoea; moreover they suggest that enteroadherent bacteria may not be pathogenic and that the absence of glycocalyx is not specific for allergic enteropathy as previously claimed.

[New possibility of genetic characterization of human papillomavirus in pathology of male and female genitalia]. / Nuova possibilitá di caratterizzazione genetica dell'Human Papillomavirus nella patologia dell'apparato genitale maschile e femminile.

Several epidemiologic studies point to the role of different sublines of Human Papillomavirus (HPV) in the development of neoplasias of the genito-rectal tract. The spread of the virus in the population makes it necessary to constantly investigate this pathogen in order to adopt a correct therapeutic approach and follow the evolution of associated disease. This paper gives an epidemiologic outline of HPV infection in the adult population--males and females--based on a correlated study of the relationship between the lesion and the presence of the virus and its sublines. The methods used both traditional examinations (colposcopy, cytology, histology) and innovative chemiluminescence molecular biology techniques. Chemiluminescence molecular hybridization includes the use of RNA probes which, on the basis the identification of different viral strains, allow a subdivision of infections into low and high/medium risk. The test resulted positive in 60.7% of the cases in which there was clinical and cyto-histopathological evidence of HPV infection. Notwithstanding the high percentage of negative results in the cases of condylomatous disease, the method used has proved to be easily applicable and more sensitive than other molecular biology techniques (comparison by in situ hybridization and Southern blot analysis). Moreover, from the clinical point of view, it seems to provide useful data for a correct diagnosis and monitoring of patients.

[Bilateral ovariectomy in gonadal dysgenesis with a Y chromosome]. / Ovariectomia bilaterale nella disgenesia gonadica con cromosoma Y.

The Authors report 4 cases of gonadal dysgenesis with a Y chromosome. Every patient underwent bilateral oophorectomy. Two cases of streak gonads, 1 case of streak gonad and gonadoblastoma and 1 case of non metastasizing bilateral gonadoblastoma with foci of dysgerminoma have been found. The Authors emphasize the importance of early bilateral gonadectomy in all cases of gonadal dysgenesis with a Y chromosome.

[Retroperitoneal teratoma. Description of a case]. / Teratoma retroperitoneale. Descrizione di un caso.

The Authors describe a case of asymptomatic retroperitoneal teratoma discovered on a routine examination in a six year-old male. Diagnosis was made pre-operatively on the base of CT scan imaging. Surgery allowed radical excision of the teratoma, which turned to be a totally benign entity.

[Fungal infections in pediatric oncology]. / Infezioni fungine in oncologia pediatrica.

The clinical charts of cancer patients with documented fungal infections hospitalized at G. Gaslini Children's Hospital, Italy, from 1980 to 1990 were reviewed. Thirty-seven episodes developing in 37 patients were identified, based on microbiological and/or histological documentation. Patients' age ranged from 3 months to 18 years (median 7 years). Twenty patients were treated for hematological malignancy and 17 had solid tumor. Seven patients (3 with leukemia and 4 with solid tumours), developed mycosis after bone marrow transplantation procedure. A history of neutropenia in the month preceding the documentation of fungal infection was present in 76% of cases (28 of 37). However, only 16 of 28 (55%) of these patients were still neutropenic at time of diagnosis. In 40% of the cases the fungal infection developed as primary infection not preceded by any febrile and/or infectious episode. Fungemias without evident organ localization accounted for the 40% of episodes with a mortality rate of 20%. The other 22 cases (60%) were classified as invasive mycoses; 9 of these patients died (41%). Mortality was higher among patients with mold infection (5 of 7, 72%), than in those with yeast infection (7 of 29.24%). Molds infections and invasive mycoses were virtually absent in the first part of our period of observation (1980-84), but emerged in the second period (1985-90) when also the incidence rate of fungal disease increased (from 2.67/10,000 person/day to 5.93), probably in relation with extensive construction works and with the implementation of a bone marrow transplantation program.

Intracranial aneurysm associated with chronic mucocutaneous candidiasis.

Chronic mucocutaneous candidiasis (CMC) is a syndrome characterised by immune deficiency, often presenting familial dominant inheritance and association with autoimmune endocrinopathies. We report on a patient with CMC who died at 5 years of age of a brain haemorrhage following the rupture of a basilar-artery aneurysm. Candida hyphae in the basilar artery were found at autopsy. A common immunologic abnormality in CMC is the failure of patient's T-lymphocytes to produce cytokines, which are essential for expression of cell-mediated immunity to Candida. Therefore, long-term treatment is mandatory.

Oral health and the masticatory system in juvenile systemic lupus erythematosus.

Our objectives were to evaluate the oral health and the masticatory system of 48 juvenile systemic lupus erythematosus (JSLE) patients and to compare them with 48 healthy children and adolescents. Demographic data, clinical manifestations and therapies of JSLE were reviewed. The DMFT index (DMFTI), the plaque (PI) and the gingival bleeding (GI) indices, dental relationship, facial profile, clinical dysfunction and mandibular mobility indices were evaluated. The two groups were homogeneous regarding age, gender, Brazilian social-economic class and dental decay index (P > 0.05). Of note, the medians of the PI and the GI were higher in JSLE patients than in controls (61.5 versus 38.10, P = 0.003 and 26.0 versus 15.95, P = 0.014; respectively). Likewise, a linear statistical correlation was evidenced between the JSLE duration and the GI (P = 0.017, r = 0.11), cumulative dose of prednisone and the PI (P = 0.01, r = 0.385) and cumulative dose of prednisone and the GI ( P = 0.001, r = 0.471). The clinical dysfunction and mandibular mobility indices were higher in JSLE patients versus controls (P = 0.002, P = 0.025). Moreover, the median of the mandibular mobility index was higher in JSLE patients who used at least one immunosuppressive than on those who did not use this medication (P = 0.0001). These results suggest that JSLE patients had an inadequate oral hygiene, higher incidence of gingivitis and temporomandibular joint dysfunction.

Granulocytic sarcoma presenting as an isolated mediastinal mass. A difficult diagnostic problem.

An unusual case of granulocytic sarcoma presenting in an 8-year-old boy as an isolated mediastinal mass, preceding by 7 months the development of acute myeloid leukemia, is reported. The patient was initially treated for lymphoblastic lymphoma, with poor response. We recommend that in such cases, full histocytochemical and immunological characterization of the tumor should be performed.

Infection with Fusarium species in two children with neuroblastoma.

Two cases of Fusarium infection in children with neuroblastoma are reported. One of the patients had an overwhelming infection and the diagnosis was based on isolation of Fusarium moniliforme from blood and skin biopsy, and histological findings. The second patient developed chronic polyarthritis and Fusarium solani was cultured from synovial fluid samples taken from two different joints four months apart. No histological documentation of infection was obtained. The response to antifungal therapy was unfavourable. Both patients died, but in the second case the relationship between fungal infection and death was not established.

Bronchiolitis obliterans organizing pneumonia in three children with acute leukaemias treated with cytosine arabinoside and anthracyclines.

Bronchiolitis obliterans organizing pneumonia (BOOP) is a clinicopathological entity with well-defined diagnostic criteria, which can be idiopathic or produced by a variety of biological processes. We describe the occurrence of BOOP in three children, one with acute lymphoblastic leukaemia and two with acute promyelocytic leukaemia. In the three patients, BOOP developed 10-20 days after a course of therapy with cytosine arabinoside and anthracyclines. The possible relationships between the small conducting airway lesions, lung toxic reaction to the drugs and/or nonidentified infectious agents are discussed.

Hepatic and splenic mycosis in children with acute leukemia.

Three cases of hepatic and/or splenic mycosis in children with acute leukemia are reported. Patients presented with fever not responding to broad spectrum antibiotics during or after prolonged and profound neutropenia. Noteworthy, in 1 case no abnormality in liver function tests was detectable at diagnosis. CT scan showed focal hepatic lesions in all patients. In 1 patient ultrasounds failed to detect hepatic lesions and showed only splenic lesions, while CT scan detected hepatic and not splenic lesions. Definitive diagnosis was performed by open liver biopsy and histological demonstration of fungal invasion. Cultures were negative in all cases. All patients survived with prolonged amphotericin B treatment (from 36 to 40 mg/kg), combined with flucytosine in two cases. In conclusion, this clinical entity should be taken into account by physicians taking care of neutropenic patients, even in the absence of abnormalities in liver function. CT seems to be the method of choice for diagnosis, although ultrasounds might be useful for detecting concomitant splenic lesions.

MICA polymorphism in a sample of the São Paulo population, Brazil.

The major histocompatibility complex (MHC) class I chain-related A (MICA) gene, located near HLA-B, codes for protein products with structural similarities to those of classical MHC class I genes, but which neither bind beta(2)-microglobulin nor present peptide. Expressed predominantly on gastrointestinal and tumour epithelial cells, they are stress-induced and interact with C-type lectin like receptor (NKG2D) on gammadelta, alphabeta CD8+ T cells and natural killer (NK) cells. MICA is highly polymorphic, with 54 extracellular allelic sequences described. We typed 200 healthy subjects in a sample of the São Paulo population by extended polymerase chain reaction-sequence-specific primers (PCR-SSP) to characterize the MICA polymorphism and analysed MICA/HLA-B linkage disequilibrium. The MICA*008 group (g) was predominant (47%), with several HLA-B associations. Rare combinations MICA*008g-HLA-B37, MICA*008g-B72 and MICA*010-HLA-B52 were detected. Given the extent of this polymorphism and its possible relevance for disease association, we determined MICA and HLA-B alleles in 33 Behçet's patients, in an attempt to clarify the associated genetic marker. Our results showed an increase of MICA*006, but not MICA*009, in the patient group (6/33) compared with controls (3/200) (18.2% vs. 1.5%; P(c) = 0.005). Both alleles were always in association with HLA-B51, suggesting that HLA-B is indeed the primary susceptibility locus (P = 0.00008) and that MICA*006 may be an additional risk factor.

[Fatal neonatal listeriosis after maternal infection acquired with ingestion of fresh home-made cheese]. / Listeriosi neonatale mortale conseguente ad infezione materna acquisita con ingestione di formaggio fresco artigianale.

The authors report on a newborn admitted to the Intensive Care Unit of Gaslini Institute for serious respiratory insufficiency who died on the third day of life because of a sepsis due to Listeria monocytogenes. The authors focus on the patient's history and clinical picture and on the histological evaluation of the lesions observed. The importance of infection in pregnancy and the possible severe consequences of listeriosis on the foetus are underlined, stressing the need for early diagnosis and adequate treatment.