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Biomedical subjects

P Tomà

Publications and source records attributed to P Tomà.

At least 19 recordsLinked to original sources
PubMed2001

Persistence of Müllerian derivatives and intestinal lymphangiectasis in two newborn brothers: confirmation of the Urioste syndrome.

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.

Abnormalities, Multiple↗
PubMed2001

Paediatric hip--ultrasound screening for developmental dysplasia of the hip: a review.

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.

Cost-Benefit Analysis↗
PubMed2000

Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation.

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.

Adult↗
PubMed1999

Testicular microlithiasis: US findings in six pediatric cases and literature review.

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.

Child↗
PubMed1998

Trichorhinophalangeal syndrome type I in monozygotic twins discordant for hip pathology. Report on the morphological evolution of cone-shaped epiphyses and the unusual pattern of skeletal maturation.

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.

Adolescent↗
PubMed1997

Leiomyomas of the gallbladder and splenic calcifications in an HIV-infected child.

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.

Acquired Immunodeficiency Syndrome↗
PubMed1996

Painless scrotal masses in the pediatric population: prevalence and age distribution of different pathological conditions--A 10 year retrospective multicenter study.

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).

Adolescent↗
PubMed1995

Localized resectable neuroblastoma: results of the second study of the Italian Cooperative Group for Neuroblastoma.

PURPOSE: To optimize treatment for children with localized resectable neuroblastoma in 21 Italian institutions using a common protocol based on previous experience. PATIENTS AND METHODS: Between January 1985 and December 1992, 152 children aged 0 to 15 years with nondisseminated neuroblastoma were entered onto this study following complete resection of tumor without tumor rupture (TR) (stage 1), or resection with minimal tumor residue, and/or tumor infiltration of regional lymph nodes (LN+), and/or TR (stage 2). Of 144 assessable children, 69 were classified as having stage 1 disease and 75 as stage 2. Of stage 2 children, 49 had low-risk (LR) characteristics (age, 0 to 11 months or 1 to 15 years but negative lymph nodes and no TR). Stage 1 and stage 2 LR children did not receive adjuvant therapy. The remaining 26 stage 2 children had high-risk (HR) characteristics (age, 1 to 15 years with LN+ and/or TR) and received adjuvant chemotherapy for 6 months. RESULTS: Of 144 children, three died of therapy-related complications and 19 relapsed, of whom six died of disease. The estimated 5-year overall survival (OS) rate was 93% and the event-free survival (EFS) rate was 83%. Of 69 stage 1 children, one died postoperatively and five relapsed (one local and four disseminated, two of whom died), for 94% OS and 90% EFS rates. Of 49 stage 2 LR children, six relapsed (four local and two disseminated); relapses occurred in five of 20 infants with LN+, in one of four infants with TR, and in none of the remaining 25 children. One child died of disease and one of toxicity, for 96% OS and 85% EFS rates. Of 26 stage 2 HR children, eight relapsed (three of 20 with LN+, three of four with TR, and two of two with LN+ and TR), of whom three died of disease and one of toxicity, for 87% OS and 61% EFS rates. CONCLUSION: Our data confirm the overall good prognosis of children with localized resectable neuroblastoma. LN+ and TR predisposed to relapse at all ages, but infants tended to have a less aggressive course after relapse. Stage 1 and 2 LR children had 94% and 96% OS rates, respectively, which justifies a policy of no adjuvant chemotherapy. Eight of 26 children with stage 2 HR relapsed despite 6 months of chemotherapy; for these children, more intensive chemotherapy may be required.

Adolescent↗
PubMed1995

Remnant of the common pulmonary vein: usefulness of magnetic resonance imaging in improving diagnosis. A case report in a child.

Abnormal incorporation of the common pulmonary vein can result in a fibromuscular partition of the left atrium, often appearing as an elongated mass on transthoracic echocardiographic examination. Differentiation from an atrial thrombus or tumour may sometimes be difficult. We report a case of a young patient with a left atrial mass detected by ultrasound study and correctly diagnosed by magnetic resonance imaging as remnant of the common pulmonary vein.

Child↗
PubMed1994

Wilms' tumor arising in a multicystic kidney.

We describe a child with Wilms' tumor (WT) which occurred in an unequivocal multicystic dysplastic kidney (MDK). We indicate a current nonsurgical approach to MDK, but stress the probable malignant degeneration of blastemal cells, the need to search carefully for the WT in the MDK, and the necessity on 3-monthly follow-up US studies.

Follow-Up Studies↗