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Biomedical subjects

E Pasquini

Publications and source records attributed to E Pasquini.

At least 37 records · Page 2Linked to original sources
PubMed2000

Breast involvement in immunolymphoproliferative disorders: report of two cases of multiple myeloma of the breast.

Breast involvement by immunolymphoproliferative disorders is rare. Primary and secondary malignant lymphomas of the breast are much more common than multiple myeloma, of which only 16 cases have been described. We report two cases of patients with an established diagnosis of multiple myeloma in whom breast involvement appeared during the course of the disease. We underline diagnostic difficulties caused by the lack of clinical and radiological features which allow us to differentiate between breast carcinoma and breast involvement by lymphoproliferative disease. Only fine needle aspiration and/or excisional biopsy can differentiate between immunolymphoproliferative disorders and epithelial or mesenchymal tumors of the breast.

Adult↗
PubMed2000

Prolonged exclusive breast-feeding from vegan mother causing an acute onset of isolated methylmalonic aciduria due to a mild mutase deficiency.

We describe a case of methylmalonic aciduria (MMA) occurred in a 22-month-old boy whose diet was exclusively based upon breast-feeding from a mother following a long-lasting strict vegetarian diet. Clinical picture showed a dramatic onset, with a profound drowsiness associated with a severe metabolic acidosis, hyperammonemia, macrocytic anemia, ketonuria, and massive methylmalonic aciduria without homocystinuria. Both symptoms and biochemical findings quickly improved thanks to prompt vitamin B(12)parenteral therapy. Biochemical and enzymatic findings allowed a diagnosis of mild mutase deficiency, which only and inadequate dietary B(12)contribution might have revealed. Our case highlights the risk of a prolonged strictly vegetarian diet of lactating mother for providing inadequate amounts of some nutrients to the breast-fed baby. Moreover, such a dietary behaviour could dramatically unmask otherwise clinically unapparent metabolic defects in the baby.

Adult↗
PubMed2000

Lethal late onset cblB methylmalonic aciduria.

OBJECTIVE: To alert the physicians to the possibility of a late-onset inborn error of metabolism in an apparently previously healthy patient with acute clinical presentation. DESIGN: Case report. SETTING: Pediatric unit and general intensive care unit. PATIENT: An apparently previously healthy 12-yr-old female presented acutely with vomiting, fever, bronchopneumonia, and progressive loss of consciousness associated with ketoacidosis, hyperglycemia, and hyperammonemia. She died 3 days later with a diagnosis of insulin-dependent diabetes mellitus. INTERVENTIONS: Intravenous hydration, glucose and insulin, mechanical ventilation. MEASUREMENTS AND MAIN RESULTS: Organic acid analysis on a postmortem sample of aqueous humor revealed high levels of methylmalonic acid. Enzymatic studies on cultured fibroblasts were consistent with the diagnosis of cblB methylmalonic aciduria. CONCLUSIONS: The diagnosis of cblB methylmalonic aciduria was made in a postmortem patient who died with a misdiagnosis of insulin-dependent diabetes mellitus. Unclear biochemical findings and positive family history should strongly lead to suspicion of an inborn error of metabolism in an apparently previously healthy critically ill patient.

Adaptor Proteins, Signal Transducing↗
PubMed1998

Staging of breast cancer: what standards should be used in research and clinical practice?

BACKGROUND: Bone scan (BS), chest X-rays (CXR), liver ultrasonography (LUS) and laboratory parameters (LP) are frequently used as routine staging procedures for breast cancer patients. These procedures are not always appropriate in either clinical or research settings, regardless of the stage. The aim of this study was to identify groups of patients with differing risks for metastases in order to select more precise standard staging procedures. PATIENTS AND METHODS: The staging data relating to 406 breast cancer patients consecutively referred to our institution between November 1989 and October 1996 were analysed including pathological TNN grading and biological parameters. All of the cases with a positive or suspicious pre-operatory staging and who proved to have metastatic disease before surgery or during the first six months of follow-up were considered true-positive; all of the other cases with a positive or suspicious initial staging but with no evidence of distant metastasis before surgery and with a disease-free survival longer then six months were considered false-positive. In the same way all cases with negative initial staging who relapsed during the first six months of follow-up were considered false-negative and those with negative initial staging and with a disease-free survival longer then six months were considered true-negative. Statistical analysis was performed using Fisher's exact test. RESULTS: BS, CXR and LUS, 388, 399 and 398 examinations respectively, were considered available, and 17 (4.38%), six (1.5%) and four (1%), respectively, proved to be true-positive. A statistically significant difference was observed when our cases were grouped according to T status (T4 vs. T1-T2-T3, P < 0.01) and nodal status (N0-N1 cases with less than three involved nodes and N1 with more than three positive lymph nodes N2 patients, P < 0.01). CONCLUSIONS: The present study suggests that breast cancer patients can be divided into three subgroups with different detection rates for distant metastases at staging (0.59%, 2.94% and 15.53%), and that the standard practice should be changed. In the first (T1N0 and T1N1 patients with < or = 3 positive lymph nodes--41.13% of the patients) and the second group (T2N0, T2N1 with < or = 3 positive lymph nodes, T3N0 and T3N1 patients with < or = 3 positive lymph nodes--33.49% of the patients) there is no need for a complete set of staging procedures, whereas full procedural staging is needed in the third group of patients (T4, N1 with > 3 lymph nodes and N2, 25.37% of the patients).

Adult↗
PubMed1998

Adult height comparison between boys and girls with precocious puberty after long-term gonadotrophin-releasing hormone analogue therapy.

We examined 22 girls and 11 boys with idiopathic precocious puberty (IPP) treated with a GnRH analogue for a period of about 4 y. The purpose of our study was to evaluate possible differences between the two sexes in bone growth and skeletal maturation during treatment and in the achievement of final height, and also to study the relative contribution of particular hormones--sex steroids, DHEAS, GH and IGF-I--during the pubertal growth spurt. At the beginning of therapy mean chronological age (CA) was 7.61 +/- 0.84 y in boys and 7.32 +/- 1.06 y in girls. After the first year of treatment, growth velocity and delta bone age/delta chronological age (deltaBA/deltaCA) ratio had declined significantly in both groups. At the end of therapy we observed a statistically relevant increase in predicted adult height in both sexes, with a more appreciable mean gain (expressed as SDS) being achieved by male patients. During the first year following discontinuation of treatment, a significant increase in the deltaBA/deltaCA ratio was observed in both males and females; by contrast, growth velocity increased only in male patients. Adult height SDS was thus greater in boys (0.13 +/- 0.91) than in girls (-0.62 +/- 0.88, p < 0.05). With regard to endocrinological data, oestradiol and testosterone were significantly reduced during the first year of therapy, while DHEAS levels increased slightly in both sexes throughout the course of treatment. GH peak after clonidine and IGF-I concentrations remained unchanged in both groups. Also, a study of nocturnal GH secretion (10 subjects) showed no noteworthy decrease in any of the patients, whether in terms of mean GH, of the sum of pulse amplitudes, or of pulse frequency. In conclusion, our data indicate that boys achieve more significant results in terms of adult height than girls. With reference to endocrinological data, the effect of sex steroids on bone maturation seems to be more significant than previously thought, and we hypothesize a different role for androgens and oestrogens in regulating height velocity and bone maturation in both male and female subjects during pubertal growth spurt.

Adolescent↗
PubMed1997

Neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with favorable outcome.

We report on a neonate with hyperammonemic coma in whom hyperornithinemia-hyperammonemia-homocitrullinuria syndrome was diagnosed. Appropriate treatment led to rapid clinical and metabolic improvement. The incorporation of 14C-ornithine on cultured fibroblasts confirmed the diagnosis. At the age of 18 months, the patient is in excellent clinical condition.

Amino Acid Metabolism, Inborn Errors↗
PubMed1997

Vinorelbine chemotherapy in non small cell lung cancer: experience in elderly patients.

This study involved 25 elderly (> 65 years old) patients (pts) with unresectable non small cell lung cancer (NSCLC) who were not eligible for polychemotherapy. The diagnosis of NSCLC was histologically or cytologically documented, and all of them had measurable or evaluable disease. The median age of the patients was 71 (range 65-77); 9 had been pretreated. The pts received 25 mg/m2 of vinorelbine weekly or bi-weekly depending on the results of blood tests. The treatment continued until disease progression or tolerance. No complete response was achieved: 3 pts (12%) had a partial response (RP) (8-12-14 months), 13 (52%) stable disease (SD) with an improvement in symptoms, such as cough and/or pain, and 9 pts (36%) progressed. Compliance with the therapy was acceptable. The main toxicity was hematological: neutropenia was observed in 16 pts, with only 1 case of grade 4 neutropenia without sepsis; grade 1-2 anemia occurred in 8 patients. The other toxicities included grade 1-2 neurotoxicity in 8 pts, chemical phlebitis in 2 pts and grade 3 cardiotoxicity reversible with medical treatment in 1 patient. The median survival time was 10 months (lower quartile 5 months, upper quartile 23 months) (Kaplan and Meyer method). Vinorelbine can be considered a rational choice in elderly pts with advanced NSCLC who are not suitable for aggressive polychemotherapy, with the aim of improving their quality of life in terms of symptoms and outpatient treatment.

Aged↗
PubMed1996

[External radiotherapy in early stage squamous cell carcinoma of the supraglottic larynx. Report of 28 cases].

The Authors reviewed a group of 28 pts with early-stage supraglottic carcinoma (T1-T2N0), classified according to UICC (1987), and treated exclusively with radiotherapy (RT) between 1980 and 1991. Until 1990 RT was employed for such tumors when surgery was refused or controindicated, while since 1991 primary irradiation (with surgery in reserve) has been considered the treatment of choice. The total dose ranged from 66 to 70 Gy on the larynx and up to 50 Gy on neck nodes. RT was applied in a daily fraction of 2 Gy five times a week. No significant early complications were observed. Only 1 pt showed residual cronical oedema in the arytenoid region. In none of the pts was tracheostomy necessary. The local control rate obtained after 30 months was 85.7% (24/28). Salvage surgery (horizontal supraglottic laringectomy, HSL) was performed in 3 out of 4 pts with local failure and achieved complete control of the disease. In the last pt the surgery was controindicated because of poor general health conditions. The actuarial survival rate after 5 years is 86.2%. The present series was compared to a group of 152 pts with T1-T2N0 supraglottic cancer treated surgically (HSL) at the same Istitution. In these pts local control and the actuarial survival rates are 85.6% and 89% respectively. According to recent Literature data, the present findings confirm that RT may be administered for the treatment of selected early stage (T1-T2N0) supraglottic squamous cell carcinoma of the larynx with oncologic results equivalent to those obtained with radical surgery. The importance of imaging techniques (TC, MRI) in the correct staging of the tumor is emphasised.

Aged↗
PubMed1995

Clindamycin/cefonicid in head and neck oncologic surgery: one-day prophylaxis is as effective as a three-day schedule.

The aim of our study was to evaluate the optimal duration of antibiotic prophylaxis in major oncologic surgery of the head and neck using a novel broad spectrum drug combination: clindamycin and cefonicid. A prospective randomized study was carried out on 126 evaluable patients undergoing clean-contaminated (skin to mucosa) surgery for cancer of larynx, pharynx or oral cavity. Cases at high surgical risk (because of need of pedicled or microvascular free flaps reconstruction), were excluded from the study. Within 20 days after surgery, only one case of wound infection was recorded among the 62 patients treated with the one-day schedule, versus three cases registered among the 64 subjects receiving three-day chemoprophylaxis. Episodes of systemic infections and eventual wound complications occurring in the first 20 days after surgery have also been recorded. The role of potential risk factors for postoperative complications has been evaluated. According to our findings, a three-day antibiotic regimen is not more effective than a short-term (one-day) schedule in preventing wound or systemic infection in clean-contaminated head and neck cancer surgery without flap reconstruction.

Adult↗
PubMed1994

Biologic characterization of pleural metastases from lung adenocarcinoma: description of the new DV90 cell line.

AIMS AND BACKGROUND: The characterization of pleural metastases from lung adenocarcinoma is often limited to single biologic features. METHODS: The present paper describes the cellular kinetic parameters, as well as immunocytochemical, ultrastructural and genetic characteristics of the new DV90 cell line, established from the pleural effusion of a stage IV lung adenocarcinoma. RESULTS: The cell line has a diploid DNA content, a doubling time of 24 h and 7% cloning efficiency, it is tumorigenic in nude mice. Ultrastructural investigation revealed the typical features of lung adenocarcinoma; the diagnosis was confirmed by its immunohistochemical reactivity with a panel of monoclonal antibodies specifically capable of identifying adenocarcinoma cells. Genetic analysis revealed a 46 X, -Y, +8, der (6)t(6?)(q27;?) karyotype and hyperexpression of the protein codified by genes Her2/Neu and p53. CONCLUSION: The importance of multidisciplinary biologic characterization in identifying the origin and biological behavior of pleural metastases deriving from lung adenocarcinoma is discussed.

Adenocarcinoma↗
PubMed1994

Self-mutilation in a patient with mucolipidosis III.

An 8-year-old girl with mucolipidosis III had self-mutilation of the distal phalanges of the second and third digits of her hands. She had neurophysiologic evidence of carpal tunnel syndrome, and consequent insensitivity to pain, which could explain the self-mutilation. Self-mutilation has not been previously described in lysosomal diseases in which carpal tunnel syndrome is frequently observed.

Carpal Tunnel Syndrome↗
PubMed1994

Failure of early dextromethorphan and sodium benzoate therapy in an infant with nonketotic hyperglycinemia.

We report an infant with neonatal nonketotic hyperglycinemia (NKH), diagnosed early and treated with dextromethorphan (DM) and sodium benzoate therapy from the 65th hour of life. Initially the patient responded to treatment showing clinical and electroencephalographic improvement: myoclonic jerks disappeared, muscular tone, reactivity to stimuli and spontaneous movements increased, assisted ventilation was no longer necessary and bottle feeding was initiated successfully; on EEG the suppression-burst pattern disappeared and the background activity was well-organized. At three months of age he developed flexor spasms and hypsarrhythmia. In spite of increasing doses of DM as high as 40 mg/kg/day and persistent therapy with sodium benzoate the child progressively deteriorated and died at the age of 5 months and 7 days. We stress that the adverse clinical course occurred in our patient even though DM and sodium benzoate therapy was started much earlier than in other reported cases. It is possible that prenatal brain damage and probable genetic variants (i.e. absent or minimal residual enzymatic activity and interindividual variations in DM metabolism) affect the response to therapy.

Amino Acid Metabolism, Inborn Errors↗