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Biomedical subjects

L Giuffrè

Publications and source records attributed to L Giuffrè.

45 records · Page 3Linked to original sources
PubMedDate not supplied

Cervico-oculo-acusticus (Wildervanck's) syndrome: a clinical variant of Klippel-Feil sequence?

A 7-year-old female child with phenotype of Cervico-Oculo-Acousticus (Wildervanck's) syndrome is presented. In addition to fusion of multiple cervical vertebrae with short neck, abducens nerve palsy and deafness, the child showed severe growth and bone delay, renal abnormalities and slight mental retardation. The presence of such malformations seems to suggest that Wildervanck's syndrome is a clinical variant of Klippel-Feil sequence. Both conditions usually have sporadic occurrence with female prevalence, more consistent for cervico-oculo-acousticus syndrome. The possibility of dominant inheritance has been postulated for both, autosomal for Klippel-Feil, autosomal or X-linked with lethality in hemizygous for Wildervank's one. An environmental etiology, due to a vascular disruption sequence during embryonic development, has been noted in Klippel-Feil, as in Moebius and Poland sequences. A combination of defects (Klippel-Feil and Moebius) could induce the more complex phenotype observed in Wildervanck's syndrome.

Abnormalities, Multiple↗
PubMedDate not supplied

Two new cases of thrombocytopenia absent radius (TAR) syndrome: clinical, genetic and nosologic features.

Two unrelated children affected by TAR syndrome, autosomic recessive disease with congenital thrombocytopenia and bilateral radial aplasia, are described. In the first case a mild thrombocytopenia has been compatible with a fairly normal life until the second year of age. The other child shows radial aplasia associated with other anomalies of the upper limbs, severe thrombocytopenia and leukemoid reaction. The relationship among TAR syndrome, Fanconi's anemia and Roberts' syndrome are briefly discussed.

Abnormalities, Multiple↗
PubMedDate not supplied

[Ultrasonics in the diagnosis and monitoring of cryptorchism in children].

The diagnostic reliability of US was investigated in the study of cryptorchidism during a 9-month clinical and US trial performed on 52 children (mean age 4.3 years). Cryptorchidism was unilateral in 44 cases (24 on the left side and 20 on the right side), and bilateral in 8 cases. Of 60 cryptorchid testes, 53--belonging to 45 of 52 patients--were located in the inguinal region (18 along the canal, 20 at the external ring, and 15 at the internal one); the others 7--belonging to the remaining 7 subjects--were found in an extra-inguinal region (4 in paravesical location and 3 in the inferior abdomen). US confirmed 29 undescended testes with clinical evidence in the inguinal region and identified, in the same area, 24 other testes which had been missed at clinical examination. In addition, US provided useful information as to both structure and volumetry of the gonads. On the other hand, US failed to provide reliable diagnostic results in the rare cases of pelvic and abdominal cryptorchidism, where precise testes localization was achieved by CT. US is the diagnostic technique of choice in the study of cryptorchidism (after clinical examination): the method is non-invasive and simple, has low cost and its use is widespread; moreover, US does not administer ionizing radiations. According to our experience, US had 88.3% diagnostic sensitivity as for undescended testes (53 of 60), and 100% specificity. In addition, US monitoring allowed clinical efficacy of therapeutic trials to be verified in 25 patients (17 sensitive to therapy): 16 of them were treated with human Chorionic Gonadotropin (hCG) and 9 with Luteinizing Hormone-Releasing Hormone (LH-RH).

Child↗
PubMedDate not supplied

[A morphologic study of extrapulmonary multisystemic lesions in neonatal respiratory syndrome].

Extra-pulmonary multisystemic lesions in respiratory syndrome of infants. A morphological study. This paper concerns the description of extra-pulmonary multisystemic lesions in 40 infants died because of "Respiratory Distress Syndrome". In infants with intra-cranial hemorrhage the association with cardiac infarct lesions makes possible a cause-effect relationship mediated by hypovolemic phenomena and/or by catecholamine activity.

Autopsy↗
PubMedDate not supplied

Genetic factors of recurrent abortions.

A review of main genetic factors involved in pathogenesis of recurrent abortion is presented. The prevalence of chromosomal abnormalities in spontaneous abortions and the role of parental abnormalities of karyotype is pointed out, also in relation to many recent studies. The result of 354 karyotypes performed on couples with spontaneous abortion are presented; the prevalence of chromosomal abnormalities resulted 4.2%, with 73% of translocations, either reciprocal (40%) or robertsonian (33%), and 27% of inversions. The low number of minor abnormalities (0.8%) seems to confirm their poor clinical significance.

Abortion, Habitual↗
PubMedDate not supplied

[Ring chromosome 4 in twins].

A case of ring chromosome 4 in an eleven months old male child with severe mental retardation, microcephaly and craniofacial anomalies is described. The karyotype was: 46,XY, r(4) p16----q35). The patient shows only few elements of the Wolf syndrome, whose phenotype is observed in most of the other cases with analogue karyotype.

Abnormalities, Multiple↗
PubMedDate not supplied

[48,XXYY syndrome in a 4-year-old subject].

The authors present a four years old boy with genitalic infantilism, mild mental retardation and karyotype 48, XXYY. This rare gonosomic aneuploidy is exceptionally discovered during childhood because it is diagnosed in most of cases after puberty for its phenotype similar to the Klinefelter's Syndrome.

Child, Preschool↗