Biomedical subjects
Publications and source records attributed to P Tomà.
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Caspofungin, in association with other antifungal drugs, was administered as rescue therapy in two cases of documented and one case of possible invasive fungal infection in children with acute leukaemia or undergoing allogeneic bone marrow transplant. The combined therapy was well-tolerated and seemed to be effective in all three patients. A combination antifungal therapy including caspofungin could represent an effective therapy for children with invasive mycoses refractory to single-agent antifungal therapy.
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We report on three infants with congenital chylothorax (CC) and congenital pulmonary lymphangiectasia (CPL). CPL appears to be a characteristic pathological finding in CC. Through the use of lymphoscintigraphy and computed tomography, this study suggests that CC and CPL are strongly correlated entities and that the dysplasia of the lymphatic system results in a pulmonary lymphatic obstruction sequence. The initial microscopic dilatation of the lymph channels may lead to progressive weeping of lymphatics and, consequently, to pleural effusion. Non-Immune Hydrops Fetalis (NIHF) may be the final consequence of impaired systemic venous return and may help to explain pleural-pulmonary involvement in this generalized lymph-vessel malformation syndrome.
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We describe two newborn brothers with a pattern of malformation characterized by the persistence of Müllerian duct derivatives, intestinal lymphangiectasia, hypertrophied alveolar ridges, and early death. Postmortem examination showed the presence of a rudimentary uterus, fallopian tubes, the upper third of a vagina, a prostate of normal shape, a dilated colon, and generalized intestinal and pulmonary lymphangiectasia. The syndrome was first delineated by Urioste and co-workers [1993: Am J Med Genet 47:494-503]. These cases confirm the existence of a definite and distinct entity.
This paper will try to deal with the following questions: Which is the correct screening model for the developmental dysplasia of the hip (DDH)? What is the clinical significance of "sonographic" DDH? Can overtreatment produced by ultrasound (US) screening cause a waste of resources and eventually morbidity? We reviewed the literature since January, 1996 through December, 2000. To compare our experience with the literature, we analysed the results of the US examinations of the hip performed in our Institute. Over 4 years of US screening 11326 infants (22652 hips), aged 3 days to 4 months, were examined consecutively. Sonographic hip findings were abnormal in 531 infants (4.7%). The screening showed 381 subjects (3.36% of the population) with a type IIa hip (bilateral or unilateral); 65% of these infants were normal at follow up and only 35% worsened. On the whole we treated 282 infants (2.5%). No open reduction was performed. Avascular necrosis appeared in 2/282 treated cases (1.06%). We support the routine generalised US screening of neonatal hips. The excess of doubtful cases and, consequently, of the extra referrals may be limited, and the overtreatment decreased to the lowest rates reported by optimisation of everyone's approach.
Thanatophoric dysplasia is the most common type of lethal skeletal dysplasia. It can usually be diagnosed with ultrasound, but differential diagnosis with other osteochondrodysplasias is not always possible. Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene have been demonstrated to cause two distinct subtypes of the disorder. We describe a case of thanatophoric dysplasia type I diagnosed at 18 weeks of gestation by ultrasonography. Genomic DNA obtained by chorionic villus sampling showed a C to G substitution at position 746 in the FGFR3 gene, resulting in a Ser249Cys substitution already known to be associated with type I disease. Implications for perinatal management are discussed.
The aim of this article is to report on six pediatric cases of testicular microlithiasis (TM) and to review literature reports, in order to schedule US and/or other control examinations, particularly when concomitant focal or diffuse alterations of the testicular parenchymal structure are present, considering the possible association of TM with testicular tumors. Six patients (age range 4-12 years) underwent US examination for scrotal trauma (two cases) unilateral cryptorchidism (one case) follow-up after orchidopexy for bilateral cryptorchidism (one case), and varicocele (two cases). Five examinations were performed with high-frequency probes (10/13 MHz) and seven with 5/7.5-MHz frequency transducers. Follow-up US examinations were performed at different times depending on initial clinical indications, presence of underlying disease, and initial US findings. Two of the six patients underwent three US examinations, two patients underwent two US examinations, and the remaining two patients underwent only one US examination. The patients underwent a total of 12 US examinations. Microliths were bilateral in four patients and unilateral in two patients. In these two latter cases, the contralateral testis was, in one case, cryptorchid and could not be evaluated by US; in the other case it was small and hyperechogenic with orchidopexy sequelae. In three cases microliths were distributed throughout the testis. In the remaining three cases they were present in limited areas of parenchyma. As to the importance of microliths, it was defined as mild in three cases and moderate/severe in three cases. Intratubular testicular microlithiasis is a well-proved histological finding (biopsy or autopsy). More recent is the US demonstration of TM with consequent definition of its pattern: usually bilateral hyperechogenic multiple small foci without acoustic shadows with complete or partial extension to the parenchyma. Testicular microlithiasis is a rare finding. Moreover, the pediatric cases reported in the literature are very few. However, the use of high-frequency US transducers (10-13 MHz) has recently allowed an easier demonstration of this disease also in children. Of particular interest is the study of the still-debated association of microliths with other diseases such as neoplasms. Some aspects need further investigation, namely the real incidence of microliths in the healthy population, the incidence of tumors in patients with microliths, the differences between adults and children, and the different types of follow-up at different ages. In pediatric age, if TM represents an isolated sign, patients need non-invasive US follow-up until adult age. Only if TM is in association with focal lesions of testis parenchyma is it mandatory to perform biopsy or surgical treatment.
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A pair of monozygotic twin girls with trichorhinophalangeal syndrome type I (TRPS I), followed from 8.3 to 16.1 years of age, is described. Both showed typical dysmorphic features and severe short stature, but only one had Perthes-like changes in the right capital femoral epiphysis. The radiographic findings and evolutionary changes of phalangeal cone-shaped epiphyses (PCSE) of the hands are illustrated in this report. The unusual bone maturation and growth of the twins are also described. Both presented poor growth and delayed bone age until about 13 years, followed by marked acceleration of bone age and stunted pubertal height spurt.
Smooth muscle neoplasms seem to be particularly frequent in children with AIDS, and several cases of such lesions, both benign and malignant (leiomyomas and leiomyosarcomas), have recently been reported in the literature. We describe here the imaging findings in a boy with AIDS who developed two leiomyomas of the gallbladder wall as well as calcification of the intraparenchymal splenic arteries.
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PURPOSE: In the pediatric population a broad spectrum of intrascrotal pathology ranging from congenital to neoplastic lesions present as a painless scrotal mass. The aim of our 10-year retrospective study was to review 71 pediatric cases of a painless scrotal mass to determine the overall and age specific prevalence of diseases manifesting as such masses. MATERIALS AND METHODS: From 1980-1991, 71 patients 1 day to 16 years old with a painless scrotal mass underwent evaluation using 7.5 or 10 MHz. ultrasound probes with transverse and longitudinal sections. RESULTS: The painless scrotal mass was testicular in 61 cases (86%, 28 neoplasms, 27 congenital malformations, and 6 posttraumatic/inflammatory lesions) and extratesticular in 10 (14%, 5 neoplasms, 2 hematoceles, 2 pachyvaginitis and 1 sebaceous cyst). Patient age distribution showed 2 peaks at 0 to 1-year and 13 to 14-year intervals. More than a third of the painless scrotal masses (24 cases) were found during the first year of life, predominantly congenital anomalies (in utero torsion) and neoplasia. A total of 45 patients (63%) underwent surgery (orchiectomy in 39 and conservative treatment in 6) and a pathognomonic echo pattern allowed nonsurgical treatment in 26 (37%). CONCLUSIONS: Testicular ultrasound proved to be highly reliable in differentiating intratesticular from extratesticular lesions but it demonstrated poor specificity because of extensive overlap between benign and malignant pathologies. Therefore, testicular ultrasound changed the management of a few select cases of a painless scrotal mass (epididymal cysts/spermatoceles and in utero torsion).
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