[Systemic dysplasia of the connective tissue. Discussion of 2 cases with uncertain classification].
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Biomedical subjects
Publications and source records attributed to D Russo.
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Ultrasonography is an excellent and objective method for assessing thyroid volume, especially in children where clinical evaluation is inaccurate. The aim of this study was to evaluate the presence of goiter by thyroid ultrasound and palpation in 244 schoolchildren, 6 to 14 years old, living in some rural villages of Val Sarmento, a mountain area of Basilicata, Italy. In 1996 we revealed the presence of endemic goiter in 25% of the schoolchildren evaluated by palpation, according to World Health Organization (WHO) criteria, and in 15.9% of the schoolchildren evaluated by ultrasonography (7.5 MHz linear probe). The median urinary iodine excretion, taken from an extemporaneous sample of the first urines in the morning, was 62.2 microg/l. This study includes Val Sarmento, an area with mild-moderate grade (Grade I) of iodine deficiency, suggesting the need for iodine prophylaxis. Furthermore, it proves that the measurement of thyroid volume by ultrasonography is an essential instrumental method for a correct epidemiological study of endemic goiter, particularly in areas where there is mild iodine deficiency.
We report a case of a male patient thyroidectomized for follicular thyroid carcinoma and presenting extremely elevated serum thyrotropin levels under L-T4 suppressive therapy. Administration of L-T3 in increasing amounts resulted in a significant decrease of serum TSH levels. The nature of the possible molecular defects underlying this unusual condition and pitfalls arising from the failure of L-T4 therapy to inhibit TSH secretion in a patient in post-surgical follow-up for follicular carcinoma are discussed.
Fluid retention following reduction in the glomerular filtration rate causes extracellular fluid volume expansion that reduces tubular reabsorption by residual nephrons, thereby maintaining the external sodium balance. The price paid for this is salt-dependent hypertension. Thus, loop diuretics are the best treatment for uremic hypertension. Diuretics are also used in chronic renal failure to treat edema due to nephrotic syndrome and congestive heart failure (CHF). In nephrotics, edema is often refractory to diuretics because of low plasma protein, depletion of the intravascular compartment, decrease in the protein-bound fraction of the diuretic in peritubular blood, and increase in tubular fluid. Thus, higher doses are needed. In uremics with CHF the efficacy of diuretics may be hampered because of the reduced renal blood flow. The association of dopamine (1-1.5 microg/kg body weight/min) may overcome this resistance; improvement in cardiac function by dialysis ultrafiltration may also help. Diuretic resistance is sometimes observed; it may be overcome by the following procedures: in CHF by the use of digitalis and/or angiotensin-converting enzyme inhibitors; by substitution of an ineffective loop diuretic for another one; by using larger doses of diuretic; by intravenous infusion rather than bolus therapy, and by a combination of diuretics acting in different segments of the tubule: loop diuretic+thiazide+amiloride. Intravenous infusion of 20% albumin has also been suggested.
Total serum lactate dehydrogenase (LDH) activity was measured in 514 adult patients with de novo acute non-lymphocytic leukemia (ANLL) prior to any treatment and was compared with several disease features, with response to induction treatment, and with relapse-free survival. LDH was higher in the M4 and M5 FAB cytological subtypes and was positively correlated with the white blood cell count (WBC). The proportion of remissions, of deaths during induction, and of failure, and the duration of relapse-free survival, were clearly unrelated to LDH activity, in the whole series as well as in different age groups (below 40 years, and 40 to 60 years) and in any FAB cytological subtype. Multivariate analysis showed that only WBC and sex (female better than male) were marginally related with relapse-free survival. These data provide conclusive evidence that LDH does not help in defining the prognosis of adult ANLL, either because enzyme activity fails to reflect the number and proliferation rate of leukemic cells efficiently, or because with current standard treatment these features are of borderline importance, in contrast with acute lymphocytic leukemia and malignant lymphomas.
Human thyroid tumours represent an example of the interplay of genetic and non genetic carcinogenesis. Recently, genetic abnormalities in the elements of the Thyrotropin receptor (TSH-R) dependent cAMP regulatory cascade have been found to be involved both in benign and malignant thyroid tumours. The presence of activating mutations has been demonstrated in the TSH-R gene as well as in the Gs alpha protein gene in thyroid toxic adenoma resulting in the constitutive activation of the cAMP pathway and it has been hypothesised that these genetic alterations may play a causative role in the disease. However, recent observations suggest more caution in accepting such a hypothesis. The presence of activating TSH-R mutations has also been demonstrated in differentiated thyroid carcinomas. At present, the percentage of such a modification is low, unless referred to selected series of tumours. Activating mutations of the TSH-R gene have been detected in a group of differentiated carcinomas with high basal adenylyl cyclase activity, and in a few cases of hyperfunctioning thyroid carcinoma. However, the role of the TSH-R-related cAMP pathway alterations in thyroid transformation remains to be elucidated. In this review, the role of TSH-R gene alterations in benign and malignant thyroid neoplasia is examined.
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We report the first case, to our knowledge, of an allergic attack following the administration of Act-D in a 9 year old boy, affected by orbit embrional rabdomyosarcoma. The boy was given most operative therapy according to RMS 96 protocol, IRS group IIb, with Actinomicin D (Act-D), Vincristine and Ifosfamide and RT. Immediately after the beginning of chemotherapy the boy presented with an asthma-like attack (dyspnoea and asthenia), supposed to be a side effect of Ifosfamide administration regressed by intravenous bolus of hydrocortisone and chlorphenamine. In the second chemotherapy cycle concurrent with RT, the Act-D preceded the administration of ifosfamide. Subsequently to the administration of Act-D and RT, without premedication, the boy presented with a face erythema and asthma like attach. Post operative chemotherapy was achieved with no further allergic side effect using premedication with hydrocortisone and chlorphenamine. The boy is now 13 years old, alive and disease free at a three years follow-up.
BACKGROUND: Some reports in the recent literature have shown that the site of molecular rearrangement within the M-BCR area may have a prognostic value in Ph1 + CML patients. A number of studies have, however, failed to demonstrate this finding. Here we report the molecular rearrangements of 107 patients and their clinical follow-up. METHODS: Localization of the breakpoints was determined according to conventional criteria, after digestion with 2 to 4 restriction endonucleases and hybridization with 1 or 2 molecular probes. RESULTS: Sixty two patients were rearranged in the 5' area and 45 in the 3' area: there was no difference between the survival curves of the two groups, at least not after 3 years of follow-up. CONCLUSIONS: The site of the breakpoint within the M-BCR has no prognostic significance in our series.
BACKGROUND: Granulocyte-macrophage colony stimulating factor (GM-CSF) can affect the treatment of acute non-lymphocytic leukaemia (ANLL) by supporting normal haemopoiesis and by enhancing the proliferation and the maturation of leukaemic cells. METHODS: A human recombinant E. Coli synthesized GM-CSF was administered to 7 patients with ANLL at a dose of 5 or 10 micrograms/kg/day for 7 days, prior to antileukaemic treatment. Peripheral blood neutrophil and blast cell count was monitored daily. Changes in marrow blast cell morphologic features, mitotic index, and the reactivity to a panel of monoclonal antibodies were assessed after 3 and 7 days of treatment. RESULTS: Peripheral blood neutrophil and blast cell count increased in 6/7 cases. The mitotic index of marrow cells increased in 6/7 cases. A significant maturation occurred along the granulocytic line (2 cases) and the monocytic line (1 case). Mild to moderate eosinophilia developed in 3/7 cases. Early stem cell markers (CD 34 and HLA-DR) were not lost, or actually increased. Myelomonocytic markers (CD 33, CD 13, and CD 14) rose and fell. Expression of the multidrug resistance-associated 170 kd glycoprotein remained stable. CONCLUSIONS: These data showed that in vivo GM-CSF more consistently enhanced the proliferation than the maturation of leukaemic cells.
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BACKGROUND: Fludarabine monophosphate (FLU) is an adenine nucleoside analogue with promising therapeutic activity in lymphoproliferative disorders. In addition, the effectiveness of alpha-interferon (alpha-IFN) in low-grade non-Hodgkin's lymphoma (LG-NHL) and B-cell chronic lymphocytic leukemia (B-CLL) has been demonstrated in several clinical trials. METHODS: In a phase II study of 45 patients with B-CLL and 28 with LG-NHL, we used FLU as second and third-line chemotherapy. Dosages of 25 mg/m2 were given in 30-minute infusions for 5 consecutive days. Treatment was repeated every 28 days depending on patients' clinical status for a maximum of 6 cycles. Entrance in the human lymphoblastoid alpha-IFN maintenance portion of the study depended on response to initial FLU. Following randomization we administered alpha-IFN, or no therapy at all, to patients who obtained a complete or a partial response after FLU therapy. The alpha-IFN dose was 3 x 10(6) U three times per week until disease progression. RESULTS: Twenty-one B-CLL patients achieved major responses, as did 17 of those with LG-NHL. Twenty-four of the former group and 11 of the latter failed to respond or obtained only a minor response. The 38 patients who responded well and entered the second part of the trial showed significant prolongation of remission duration with maintenance alpha-IFN. CONCLUSIONS: In consideration of its significant activity, the role of FLU in the management of lymphoproliferative disorders needs to be evaluated further; at the same time, this preliminary analysis seems to indicate that maintenance alpha-IFN may extend remission duration in B-CLL and LG-NHL.
BACKGROUND: Data on chronic nephropathies at the starting of the dialysis (Renal Regitries) don't show the real frequency of these diseases, because they refer to a population, which has been previously selected by the course of the illness; there are a few and fragmentary data referred to the general population, observed in primary care or outpatients' departments. The aim of the present study is to measure the frequency of the chronic nephropathies observed in a nephrology outpatients'department and compare it with the frequency reported by other studies on local epidemiology. METHODS: We deal with the population referring to the nephrology outpatient's department in the Barletta Hospital during 2003 for 159.803 residents in all. The personal data have been analyzed, as well as the frequency of Chronic Renal Failure (CRF, 2 degrees -5 degrees stage MDRD), Hypertension and Diabetes. Our data have been compared to data reported by a local multicentric study performed in Basilicata in 2001. RESULTS: The main features of the analyzed population were: mean age 64.9 years and mean GFR 50,4 mL/m'/1,73 m2; there where more women than men, and 89.8% of patients had CRF, 67.2% Hypertension, 12.7% diabetes. The total referral to nephrologist was 242.8/100.000 residents. Our incident population significantly differs from the one of the Lucania, due to the inverted ratio of men to women, the higher degree and the earlier referral of CRF, with no significant difference in mean age. The percentage of patients with CRF and Hypertension was alike, whereas that of the diabetic patients was significantly lower. CONCLUSIONS: Although the outpatients' populations are neighbouring, they may significantly differ in features and frequency of chronic nephropathies. This phenomenon is the expression of referral factors, and demonstrates the importance of local epidemiology in appropriate care planning.
BACKGROUND: Clonal Ph1+ hematopoiesis is not allowed to proliferate under a long-term culture system: in 3,4 weeks residual normal (Phl-) hematopoiesis emerges. This culture system has recently been proposed as a method for purging autografts. METHODS: In our study we evaluated for cytogenetic conversion cells harvested from the non-adherent (NA) fraction of LTBMCs from CML patients. Moreover we investigated the effects of prior therapy (busulfan or hydroxyurea) on CML hematopoiesis maintained under long-term culture. RESULTS: Time-course analysis of a large number of metaphases of NA cells from LTBMCs showed that the disappearance of Ph1+ cells is fortuitous. Although most of the analyzed cells were more mature cells, a complete cytogenetic conversion at the level of the early hematopoietic compartment, located within the adherent stromal layers, seems unlikely, at least for the first 3,4 weeks of culture. Thus the possibility exists of reinfusing an indefinite number of Ph1+ progenitor or stem cells, which renders proper evaluation of the clinical benefits of this purging method difficult. Moreover we found that prior chemotherapy (busulfan or hydroxyurea) significantly affected CML hematopoiesis, reducing time-course recovery of clonogenic cells from LTBMCs. CONCLUSIONS: Overall data suggest caution in the reinfusion of bone marrow cells maintained under long-term culture for previously treated CML patients.