Southern transfer protocol for confirmation of Huntington disease.
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Blotting, Southern↗
Biomedical subjects
M Guida
Publications and source records attributed to M Guida.
Germline mosaicism at the fragile X locus.
We have identified a fragile X syndrome pedigree where the disorder is associated with a molecular deletion. The deletion was present in the DNA of 2 sons but was absent in the mother's somatic cell (lymphocyte) DNA. The results are consistent with the deletion arising as a postzygotic event in the mother, who therefore is germinally mosaic. This finding has important implications for counseling fragile X families with deletion mutations.
Female↗
Changes in E-cadherin immunoreactivity in the adenoma-carcinoma sequence of the large bowel.
We have used an avidin-biotin immunoperoxidase technique to localise epithelial cadherin (E-cadherin), a calcium-dependent cell-cell adhesion molecule, in 107 paraffin-embedded sections from 93 patients consisting of 24 with colorectal adenoma, 55 with rectal carcinoma and 14 with liver metastases. The corresponding primary colorectal tumours were also studied in these cases. E-cadherin was expressed by normal colorectal epithelial cells with typical membranous staining at the intercellular junctions. Loss of normal membranous E-cadherin expression and presence of cytoplasmic staining were found frequently in adenomas larger than 1 cm (P < 0.01), with high grade dysplasia and villous histology (P < 0.01). In primary rectal cancers, loss of membranous expression correlated with high tumour grade. No correlation was seen with Dukes and Jass stage, local extramural spread and 5-year recurrence rate. Complete loss of membranous E-cadherin immunoreactivity was seen in 7/14 (50%) liver metastases in which 6/7 (86%) showed intense membranous E-cadherin immunoreactivity in the corresponding primary tumour. Our data indicate that changes in E-cadherin immunoreactivity and cellular localisation correlate with size, severe dysplasia in adenomas and tumour grade in carcinomas. However, there seems to be no correlation between loss of membranous E-cadherin immunoreactivity and the invasive and metastatic potential of the carcinomas.
Adenoma↗
Long-term subcutaneous recombinant interleukin-2 as maintenance therapy: biological effects and clinical implications.
Several trials have evaluated the therapeutic efficacy of rIL-2 combined with more traditional treatments such as chemotherapy and radiotherapy, but the use of IL-2 as adjuvant therapy for minimal residual disease or to maintain clinical response obtained with other standard treatments has yet to be investigated. The aim of the present trial was to study the biological effects of maintenance long-term treatment (6 months) with subcutaneous low-dose IL-2 in 16 patients with different neoplasms previously treated with chemo-immuno therapeutic regimens or with surgery (7 metastatic renal cancers, 5 locally advanced renal cancers previously subjected to radical nephrectomy, 2 metastatic breast cancers, 1 small cell lung cancer, and 1 metastatic melanoma). Clinical tolerability, feasibility and therapeutic implications are also discussed. The IL-2 schedule was as follows: 4.5 million IU/day, 3 times weekly for 6 months. A total of 14 patients completed therapy without requiring dose modifications and are free of progression after a median duration of 8+ months (range: 7+ to 34+) while two patients progressed during therapy (one inflammatory breast cancer and one renal cancer). Important and persistent hemato-immunostimulating effects in both soluble (IL-2, sIL-2R, IL-6) and cellular (lymphocyte subsets, monocytes, eosinophils) parameters were noted during the entire treatment. The IL-2 related toxicity was quite low. Moreover, this long-term IL-2 therapy could control neoplastic growth and thus prolong clinical response obtained with standard treatments. Prospective randomized studies regarding the clinical efficacy have been initiated.
Aged↗
[The time parameters of the stapedius reflex. The normal results].
The evaluation of the temporal characteristics of the acoustic stapedius reflex is one the fundamental aspects of the impedance audiometry, since significant biological information to be used as sensitive indicators of distinctive pathologies can be obtained. At the Audiology Service of the E.N.T. Department of Parma four parameters of the acoustic stapedius reflex have been studied (onset latency, latency at 10% of the maximum amplitude, rise time, offset latency) in a group of people having normal ears without previous otological problems, with the aim to establishing some rules. The equipment used is the Madsen Impedenzometro ZO 174 which enables to obtain an average among a desired number of reflex responses. The report shows the value of the four parameters of the stapedius reflex obtained from the study of 10 normoacusic patients totalling 20 ears. The resulting guidelines can make up the basis for further research in pathological cases with cochlear, neural and central lesions.
Acoustic Impedance Tests↗
The wording of the informed consent in gynecology.
In many western States medical activity is characterized by legal difficulties regarding the patients' consent. In this paper we have confronted the medical and legal problems connected to the wording of the informed consent in diagnostic and therapeutic practice in gynecology and obstetrics. In this area the role of Scientific Societies seems ever more important in that they could carry-out an important task by having the possibility of acquiring and coordinating the maximum amount of knowledge in both the specialistic medical field and the judiciary field. Here, we discuss the various aspects of the preparation of appropriate forms for correct patient information and the valid acquisition of the patient's consent for medical records.
Consent Forms↗
A molecular protocol for diagnosing myotonic dystrophy.
Myotonic dystrophy (DM) is an autosomal dominant genetic disease caused by an unstable CTG repeat sequence in the 3' untranslated region of the myotonin protein kinase gene. The CTG repeat is present 5-30 times in the normal population, whereas DM patients have CTG expansions of 50 to several thousand repeats. The age of onset of the disorder and the severity of the phenotype is roughly correlated with the size of the CTG expansion. We developed a molecular protocol for the diagnosis of DM based on an initial polymerase chain reaction screen to detect normal-sized alleles and small expansions, followed by an improved Southern protocol to detect larger expansions.
Adult↗
Solitary plasmacytoma of bone and extramedullary plasmacytoma: two different nosological entities?
BACKGROUND: The relationship between solitary plasmacytoma and multiple myeloma is still unclear, but they can be distinguished by their different clinical course. Indicators of disease activity and extension, and of a possible evolution to multiple myeloma, have not been identified as yet. METHODS: Two cases of solitary plasmacytoma are described: one of the mandible and one extramedullary plasmacytoma (EMP) of the rhinopharynx. Pathologic data included immunohistochemical staining for heavy and light Ig chains, and for the proliferating cell nuclear antigen (PCNA). Analysis of the peripheral immunological status and serum parameters (beta 2 microglobulin, thymidine kinase, IL-2, IL-6 and soluble IL-2 receptor) was performed and correlation was made with the clinical status. Flow cytometry analysis of nuclear DNA content and S-phase cell fraction were also studied in both neoplasms. RESULTS: Solitary plasmacytoma of bone (SPB) showed important basal immunologic alterations and a marked increase in all serum parameters considered with respect to EMP. Ploidy analysis demonstrated an almost complete aneuploidy cell population for the SPB patient (80%), whereas in the EMP patient only 2% of the cells were aneuploid. The S-phase cells were 16% and 4%, respectively. PCNA index was 60% in SPB and 10% in EMP. CONCLUSIONS: Solitary plasmacytoma of the bone appeared to be a more aggressive form of plasmacellular neoplasia, distinct from EMP and similar to multiple myeloma. The study of serum parameters, together with analysis of PCNA, ploidy and S-phase fraction, can aid in better understanding disease activity, and in the choice of more adequate treatment. Moreover, serial analysis of some serum factors might be useful markers for monitoring the disease.
Aged↗
Distribution of inorganic and organic pollutants in river sediments in Campania, Italy.
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Animals↗
A new diagnostic aid for natural family planning.
INTRODUCTION: We have studied the use-effectiveness of salivary ferning as a diagnostic testing aid to natural family planning. We used PG/53, a pocket microscope. MATERIALS AND METHODS: Use of natural family planning methods was studied in 32 women who used the new technology PG/53 to detect the fertile period. By this means the women observed their menstrual cycles and other markers of fertility, such as basal body temperature and appearance of cervical mucus. RESULTS: Of the 32 women participating in this research, 28 women had a good salivary test with positive ferning by the microscope in the same period as other markers of fertility. In 4 cycles the ferning was uninterpretable as there was no correspondence with the cycle phase. Ferning began 1-2 days before cervical mucus appearance, and lasted a mean of 6.2 days. Ferning occurred, on average, 7.2 days before the first day of temperature shift. CONCLUSIONS: There is a direct correlation between salivary ferning and fertile period. Salivary ferning may be used as a new parameter to aid women to detect the fertile period in combination with other symptothermal methods of ovulation detection. We now need further research in order to improve the use-effectiveness of salivary ferning.
Body Temperature↗
[Effect of cilazapril therapy on diastolic filling and left ventricular hypertrophy in patients with arterial hypertension].
BACKGROUND: Of the main aspects of hypertension, left ventricular hypertrophy and appearance of cardiac dysfunction seem to be the most common and to produce an early and severe cardiac deterioration. Even in the presence of normal systolic function diastolic filling abnormalities are described. The efficacy of many antihypertensive drugs to decrease blood pressure and to reduce left ventricular hypertrophy has already been demonstrated. Cilazapril is a new ACE-inhibitor that in previous studies showed a very important antihypertensive effect. To assess its capacity, in long-term treatment, to reduce left ventricular hypertrophy we performed a prospective study on patients with mild hypertension. MATERIAL AND METHODS: Nineteen patients (aged 48 +/- 15 years) with mild hypertension (mean arterial pressure automatically recorded for 24 hours with blood pressure ambulatorial monitoring) were treated with cilazapril (5 mg/day) for 1 year. Doppler echocardiography was performed: at the beginning, after 6 months and after one year of therapy. The following parameters were evaluated: interventricular septal and posterior wall thickness, LV end-diastolic diameter, LV mass index, early (E) and late (A) diastolic filling flow velocities and the ratio E/A. RESULTS: A significant decrease was observed in mean arterial pressure (from 130 +/- 14 mmHg at beginning to 102 +/- 11 mmHg at six months of therapy and to 103 +/- 9 mmHg at one year of therapy). A significant reduction in LV hypertrophy and an improved diastolic filling pattern of the left ventricle was shown after six months of therapy with cilazapril; this improvement still remained after 1 year of therapy. CONCLUSIONS: In this study antihypertensive efficacy of cilazapril has been confirmed. Moreover, in long treatment, cilazapril has been useful to reduce left ventricular hypertrophy and to improve diastolic filling without significant side effects.
Adolescent↗
Salivary ferning and the menstrual cycle in women.
The Authors report the data relative to the monitoring of menstrual cycle carried out by the observation of salivary ferning. They compared the usual physical and hormonal parameters of four groups of women with the aspect of the crystallisation of the saliva observed both by normal optical microscope and by a special type of pocket microscope which can be used by women themselves. In conclusion the Authors report a careful examination of the biochemical correlation relating the women's hormonal climate and its salivary constituents.
Adolescent↗
Malpractice in obstetrics: a contribution of cases in southern Italy.
Looking ahead to the abolition of many intra-European frontiers the Authors offer this contribution to the discussion of the medico-legal aspects of gynecological activity in the United Europe of 1993. It is to this end that they present the data from a review of the material which has been the subject of litigation on the part specialists in Southern Italy, also commenting on the case series in the light of the Italian provisions in force up to date.
Abortion, Induced↗
Objective and subjective data for fertile period diagnosis in women: comparison of methods.
The Authors have evaluated the reliability of various methods, both natural and biochemical, for the identification of the female ovulatory period in women with regular periods. They compared these methods among themselves and with echographical checking of ovulation. It emerged clearly from the study that the greatest reliability among the natural methods is obtained through the evaluation of the presence of cervical mucus, while among biochemical methods the best results are obtained by a semiquantitative colorimetric test. Brilliant prospects have also been opened by research on saliva.
Biomarkers↗
[PTA palatal appliance for brain-damaged patients].
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Brain Damage, Chronic↗
Total circulating B lymphocyte abnormalities in a primary cerebral localization of non-Hodgkin lymphoma: a case report.
The authors describe a case of primary central nervous system lymphoma in a 43-year-old male. Interest in this rare form of B-lymphocyte non-Hodgkin's lymphoma is due to its increasing incidence in the last decade, especially in immunodeficient patients. Extraneural involvement was excluded by staging examinations: bilateral bone marrow biopsy from the posterior iliac crest, bipedal lymphography, abdominal CT scan, skeletal, thoracic and gastrointestinal X-rays, spinal puncture, ORL and clinical examination. The peripheral immunologic state was particularly interesting: there was a substantial decrease in total circulating B-lymphocytes at diagnosis (4.4% = 80/mmc; nv 13 +/- 4% = 287 +/- 130/mmc) and a further decrease after 2 and 4 months of therapy (0.16% = 2/mmc). Three months after completion of therapy, the B-lymphocyte level returned to the base level at diagnosis (7% = 88/mmc). At 10 months after diagnosis and 3 months after completion of chemotherapy, the patient is alive and in good health except for the after-effects of a left hemiparesis. The etiologic and possible pathogenic factors are considered.
Adult↗
Ifosfamide plus mitoxantrone as salvage treatment in non-Hodgkin's lymphomas.
Twenty-two patients affected by relapsed or refractory non-Hodgkin's lymphoma (NHL) were treated with a combination of ifosfamide (IFO) at the dose of 1.2 g/m2 intravenous (i.v.) (1 h infusion) for 5 consecutive days with mesna as uroprotector plus mitoxantrone (NOV) at the dose of 12 mg/m2 i.v. on day 1; both drugs were recycled every 3-4 weeks. Of 21 evaluable patients, overall response observed was 57% (38% complete response and 19% partial response with a median duration of response of 7 months (5-23+). Dose-limiting toxicity was represented by leukopenia (grade III-IV in 43% of cases); severe thrombocytopenia was observed less frequently (grade III-IV in 19% of cases). This hematologic toxicity prevented administration of therapy every 3 weeks as initially planned. However, the complete hematological recovery, usually observed at the fourth week, permitted therapy administration to all patients without dose reduction. Low-grade lymphomas responded to treatment as well as intermediate or high grade lymphomas. Moreover, patients treated with third- or fourth-line chemotherapy also responded. However, response was observed in 11/13 (85%) relapsed patients as compared to 2/8 (25%) refractory cases. The combination of IFO plus NOV is active in heavily pretreated patients with NHL. Nevertheless, the study of a larger number of patients is necessary to better define the exact role of this combination as "salvage" therapy for NHL.
Adolescent↗
Echographic aspects of the mixed müllerian tumor of the endometrium.
The Authors report a rare clinical case of mixed müllerian tumor of the endometrium. They propose the possibility of an echographic diagnosis on the basis of a careful examination of the reports indicated in Literature.
Endometrium↗