Biomedical subjects
Publications and source records attributed to R Giorgetti.
A sample of 103 Italians was tested for HLA-DQA1 polymorphism using the polymerase chain reaction (PCR) and dot blot hybridization. Results were in Hardy-Weinberg equilibrium. The power of discrimination was 0.91 and the rate of exclusion 56.7. The frequencies of the DQA1*0201 and DQA1*0301 alleles were found to be significantly different from other Caucasian populations.
The Authors describe a case of neonatal hemorrhagic syndrome associated with a large hemangioma on the left lower limb with an unfavourable prognosis. The clinical, biohumoral and anatomicopathological characteristics indicate a Kasabach-Merrit syndrome (SKM) with massive platelet sequestration in the large hemangioma. The pathogenetical mechanisms of SKM and the medical surgical and radiant therapy are mentioned. The Authors also discuss the various diagnostic problems imposed by the presence of serious hemorrhagic pathology at neonatal age.
In this study 23 oral breathing children suffering from maxillary hypoplasia (endognathia associated with skeletal class II or III), selected for rapid maxillary expansion (RME) have been investigated by active anterior rhinometry. None of these patients presented O.R.L. pathologies during clinical examination except for some sporadic cases of adenoid hypertrophy (5 cases). Rhinomanometric and cephalometric examinations carried out before and after RME treatment showed a good correlation between the nasal respiratory function parameters and the structural cephalometric elements investigated by means of teleradiography. In particular, an important reduction in nasal respiratory resistance in all patients with conversion from oral to nasal respiration in the majority of cases corresponds, together with cross-bite resolution, to increased transversal dimension of the maxilla produced by RME. A clear regression in adenoid hypertrophy, where present, is also noted without any type of O.R.L. treatment. The improved respiratory situation could therefore produce benefits on the trophism of the nasal mucous and the lymphatic rhinopharyngeal tissue. Agreement between clinical, radiological and rhinomanometric findings confirm the usefulness of this method in diagnosing and following-up patients with this problem.
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.
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.
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.
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.
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.
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.
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.
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.
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The Authors describe an uncommon case of growth retardation; the clinical and radiological elements that the Authors to a diagnosis of spondyloepiphyseal dysplasia (SED) are noted; they compare this to other diagnosis of different types of growth retardation, they underline the necessity of taking these rare types into consideration before undergoing diagnostic procedures that would be costly both to the patient and society.
The Authors deal systematically with the transpalatal bar and lingual arch biomechanics. Particularly passive applications are distinguished from active ones. The Authors propose a classification of active applications based on the activation order (first, second, third), on the kind of biomechanics of the system (statically determinate or indeterminate) and on the symmetry or asymmetry of the activation. Every group of this classification is then analysed in detail.
The relationship between hypoplasia of the upper maxillary bone and nasal respiratory insufficiency in a group of twenty infants with malocclusion being treated by rapid maxillary expansion (RME) were studied. Prior to treatment all patients presented endognatia with discrepancies of from -4 to -7 mm in the transverse basal skeleton. These were often associated with adenoid hypertrophy (70% of the cases), increased total nasal resistance (70%), oral respiration (80%) and middle ear diseases (30%). RME led to resolution of occlusion alterations in all cases and often also brought about a regression in adenoid hypertrophy (57% of the cases), normalization of the total nasal resistance (70%) and respiration (80%). These effects were achieved alone without association with any other form of medical or surgical E.N.T. treatment. The functional results confirmed by the radiological and clinical findings indicate an increase in the diameters of the nasal fossa and in the distance between the canines, between premolars and between molars as well as reduction in adenoid vegetation and in the diffuse hypertrophic tissues lining the naso-pharyngeal space. Nonetheless, hypoplasia of the upper maxillary bone and nasal respiratory insufficiency remain strictly linked and are bound to a variable, and at times uncertain, cause-effect relationship. Is nasal stenosis the moving force of maxillary-mandibular dysmorphism and gnatological dysfunction or does it result from an overall genetic conditioning of facial skeleton development? During their vast experience in adenoid and metadenoid pathologies in infancy the authors have, at times, observed significant maxillo-facial dysmorphisms. They have likewise found that "facies adenoidea" were not always associated with hypertrophy of the pharyngeal tonsil.(ABSTRACT TRUNCATED AT 250 WORDS)
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