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R Giorgetti

Publications and source records attributed to R Giorgetti.

At least 37 records · Page 2Linked to original sources
PubMed1992

[A case of CHARGE with fibrocystic disease of the pancreas].

The Authors describe a case of CHARGE association (CA) with fibrocystic disease of the pancreas (FCP). The CA is characterized by seven mayor defects (colobomatous malformation, heart defect, atresia choanae, growth and mental deficiency, genital hypoplasia, ear anomalies and/or deafness). Four of this seven defects are necessary for the diagnosis. Other diseases and anomalies associated with CA are examined. The peculiarity of contemporaneous presence of FCP and the seriousness of the prognosis is pointed out.

Abnormalities, Multiple↗
PubMed1991

Suitability of PCR methods for forensic investigation. Analysis of the 3'apoB VNTR system in an Italian population sample.

The PCR method has been applied to amplify a Variable Number Tandem Repeat (VNTR) sequence located at the 3' end of the apolipoprotein B (ApoB) gene. The study was conducted on an Italian population sample and in a 3-generation family of 13 members, whose relationships were previously established using conventional blood systems. The allele frequencies found were compared with those reported in the literature. The results also confirmed the Mendelian inheritance of the alleles and the suitability of the PCR method for forensic purposes.

Amino Acid Sequence↗
PubMed1991

[Use of DNA amplification by PCR in the study of the hypervariable region (VNTR) in a forensic medicine setting. Experience with 2 systems: Apo B and YNZ 22].

The PCR method has been applied to amplify two Variable-number-Tandem-Repeat (VNTR) sequences. The high polymorphism of these VNTR systems can be usefully applied in medical legal fields such as paternity testing and individual identification. The VNTR systems utilized were: ApoB and YNZ 22. The study was conducted on a three-generation family of thirteen members, whose relationship was previously established using conventional blood systems. The results confirm the Mendelian inheritance of the alleles found and the suitability of the PCR method for forensic purposes.

Alleles↗
PubMed1990

[Meckel's diverticulum: the usefulness of 99m Tc pertechnetate scintigraphy].

The paper discusses the utility and appropriateness of instrumental tests (in particular scintigraphic detection) which are regularly used for the preoperative diagnosis of Meckel's diverticulum. The case is reported of a 9-month-old infant affected by severe recidivating attacks of melena in whom the diagnosis of Meckel's diverticulum was delayed by the repeated negativity of instrumental tests.

Humans↗
PubMed1990

[Dilated cardiomyopathy in infants. Report of a clinical case with particularly favorable outcome].

Dilated cardiomyopathy has a poor prognosis in infants and children. We report the favourable long term outcome of a case of dilated cardiomyopathy discovered at age seven months. The knowledge of natural history of these patients is very important to develop predictive indexes to select patients who might respond to medical management and those who might be suitable candidates for cardiac transplantation.

Cardiomyopathy, Dilated↗
PubMed1989

[Magnets and orthodontics. Biological-clinical study. 2].

The authors after preliminary remarks on new magnetic alloys, stress some biomechanic aspects related to distalization of upper molars. Radiologic examination of teeth during distalization shows a good rate of crown/tooth ratio movement. Where magnets were worn in combination with extraoral traction, they seemed to be more effective on the "test" sides rather than on the "control" sides where only extraoral forces acted.

Adolescent↗
PubMed1989

[Magnets and orthognathodontics. Biological-clinical overview. 1].

A review of the physical properties of the magnetic fields is reported. Particular attention has been paid to the biological and clinical aspects of the electromagnetic fields applied to living structures of cells and bone tissue both susceptible to this exposition.

Magnetics↗
PubMed1989

[Local geographic variability of genic frequency of blood groups used in calculating paternity probability].

The distribution of some genetic polymorphisms, usually utilized in cases of disputed paternity, has been reported for the Marche region of Italy. The genic frequencies found do not show significant variations when compared to mean national values, except for the MNSs system; nevertheless, some differences, such as those between rare alleles in the Rh system, can affect the biostatistical evaluation of paternity. Therefore, in our opinion, the probability of paternity should be calculated using both national and regional frequencies.

Blood Group Antigens↗
PubMed1982

The QT interval throughout the first 6 months of life: a prospective study.

A prospective electrocardiographic study was designed to establish baseline values for electrocardiographic measurements, with specific reference to the QT interval during infancy, and to test the "QT hypothesis" for the sudden infant death syndrome (SIDS). In this ongoing study, ECGs are recorded on the fourth day of life and in the second, fourth and sixth months. The state of health at 1 year is ascertained by a phone call. So far, 4205 newborns have been enrolled. The mean QTc (QT interval corrected for heart rate) was 397 +/- 18 msec (+/- SD) at the fourth day, 409 +/- 15 msec (p less than 0.0001) at the second month, and 406 +/- 15 msec at the fourth month; by the sixth month, it returned to 400 +/- 14 msec. In 88 newborns, the QTc increased by over 40 msec at the second month. Among the 2000 infants checked at 1 year, there have been three sudden and unexpected deaths. The QTc of one of the victims at the fourth day was 563 msec, which exceeded the mean by more than 9 standard deviations, while the QTc of the other SIDS victims exceeded the mean by more than 2 and 3 standard deviations. These results are consistent with the "QT hypothesis," but more data are necessary before any conclusion on the potential relationship between QT interval prolongation and SIDS can be drawn. This study provides definitive waking normal values for QT interval in infancy and indicates that the QT interval lengthens physiologically and temporarily during the first months of life. In some infants, this lengthening may transiently impair cardiac electrical stability.

Electrocardiography↗