Delayed diagnosis of dyskeratosis congenita in a 40-year-old woman with multiple head and neck squamous cell carcinomas.
Explore the source record for details and available documents.
Adult↗
Biomedical subjects
S Ruggeri
Publications and source records attributed to S Ruggeri.
A combined HPLC-immunoenzymatic comprehensive screening for suspected drug poisoning in the emergency department.
OBJECTIVE: To review the results of a comprehensive drug screening as first line diagnostic tool in patients attending an emergency department for suspected drug poisoning. METHODS: A comprehensive drug screening was carried out in plasma or urine, or both, of 310 patients combining an HPLC multidrug profiling system and a fluorescence polarisation immunoassay. RESULTS: In 64.2% of cases the screening confirmed the diagnosis of drug poisoning, in 13.9% suspected drugs were measurable at non-toxic concentrations, and in 21.9% no drugs were found. The suspected drugs were fully confirmed in a minority of cases, (symptomatic patients: 28.2% compared with asymptomatic: 16.5%). Symptomatic patients were less likely to have at least one suspected drug (29.6% compared with 57.7%; p<0.001), and more likely to have at least one unsuspected drug found at analysis (17.4% compared with 3.1%; p = 0.005). In 5% of patients, asymptomatic when first observed, one or more unsuspected drugs were found. In 6 of 29 patients, with suspected poisoning of an unspecified drug, the screening identified the specific drug and excluded acute intoxication in the remaining cases. CONCLUSION: A rapid comprehensive drug screening adds to the diagnosis of patients with suspected drug poisoning, identifying unsuspected drugs in symptomatic patients and excluding drugs in asymptomatic subjects.
Acute Disease↗
Comprehensive drug screening in decision making of patients attending the emergency department for suspected drug overdose.
OBJECTIVES: This study aimed to evaluate the usefulness of a comprehensive drug screening method as a first line diagnostic tool on clinical decision making in patients attending an emergency department for suspected drug overdose in terms of agreement between physicians on patients' disposal. METHODS: Five emergency physicians retrospectively evaluated the records of 142 adult patients, admitted to the emergency department of a community hospital for suspected drug overdose. They were asked for an expert opinion on patients' disposal at the end of the observation period, based on paired records, with/without the results of a comprehensive drug screening. RESULTS: In the absence of the drug screening, a very poor agreement (kappa statistics) was observed between physicians. When the drug screening was available, the interobserver agreement for decision on patients' disposal increased to the fair to good range (global agreement: from 0.238 (0.019) to 0.461 (0.020) (mean(SE)); p<0.001). The agreement also increased when admission to an intensive care unit, to a general ward, and discharge from hospital were separately analysed. The availability of drug screening would have saved 21.7% of hospital admissions and 53.3% of high dependency and/or intensive care unit admissions. CONCLUSION: Comprehensive drug screening adds to decision making for patients attending an emergency department for suspected drug overdose, improving agreement among physicians on patients' disposal and potentially saving hospital resources.
Adult↗
Positive blood alcohol concentration and road accidents. A prospective study in an Italian emergency department.
STUDY OBJECTIVE: To examine if a positive blood alcohol concentration (BAC) at the time of crash (>or=0.50 g/l), independently of any clinical evidence and laboratory results indicating acute alcohol intoxication, is associated with specific features of patients involved, specific types of injury, and characteristics of the accident. METHODS: In this prospective cohort study, the BAC was measured in adult patients who had been injured and who were admitted to an Italian emergency department within four hours after a road accident. Altogether 2354 trauma patients were included between January to December 1998 out of 2856 eligible subjects. RESULTS: BAC exceeded 0.50 g/l in 425 subjects (18.1%), but was in a toxic range (>1.00 g/l) in only 179 subjects (7.6%). BAC positivity was significantly more common in men, in young subjects, in subjects driving cars or trucks, and in persons involved in a crash during night time and at weekends. It was associated with higher trauma severity, but no differences were found in injury body distribution according to vehicle type. In multivariate logistic regression analysis, the risk of a positive BAC in injured patients at the time of crash was independently associated with night time (odds ratio: 3.48; 95% confidence intervals: 2.46 to 4.91), male sex (3.08 (2.36 to 4.01)), weekend nights (1.21 (1.05 to 1.41)), and age (0.92 (0.86 to 0.99) per decades). CONCLUSION: In injured patients after a road accident, a BAC at the time of crash in a non-toxic range (>or=0.50 g/l) is associated with specific characteristics of crash, as well as increased risk of higher trauma severity. More careful monitoring is needed in young men during weekend nights for highest risk of BAC positivity after a road accident.
Accidents, Traffic↗
Blood alcohol concentration and management of road trauma patients in the emergency department.
BACKGROUND: The effects of blood alcohol on injury after crash are controversial, and safe limits are not settled. We examined if a positive blood alcohol concentration, even in a nontoxic range, affects management and outcome of injured patients after road crashes. METHODS: In this prospective cohort study, we recruited all adult subjects admitted to an emergency department within 4 hours after a road crash. Outcomes were mortality or expected permanent disability, and data related to patients' management. RESULTS: Alcohol-positive trauma patients were more frequently critical at admission (odds ratio [OR], 1.89; 95% confidence interval [CI], 1.18-3.02), and had an increased risk of combined mortality or expected permanent disability (OR, 1.67; 95% CI, 1.08-2.58), need for intensive care (OR, 1.87; 95% CI, 1.01-3.46), surgery (OR, 1.91; 95% CI, 1.37-2.66) and blood transfusions (OR, 2.09; 95% CI, 1.20-3.64), and acute medical complications (OR, 1.94; 95% CI, 1.33-2.85). All these events were explained by higher trauma severity. Only the risk of unsuspected injuries, diagnosed only at final evaluation, was independently associated with a positive blood alcohol concentration (OR, 4.98; 95% CI, 3.62-6.87), in addition to trauma severity and preexisting chronic conditions. Blood alcohol measurement significantly improved the accuracy in predicting unsuspected injuries, from 81.3% to 86.2%. CONCLUSION: In injured patients after a road crash, a positive blood alcohol concentration increases the chance that the final diagnosis will include more injuries than initially documented. More careful monitoring is needed in alcohol-positive trauma patients, independent of clinical status, injury severity, and overt symptoms of alcohol intoxication.
Accidents, Traffic↗
Palpatory method used to identify the recurrent laryngeal nerve during thyroidectomy.
The major complication of thyroid surgery, occurring in 1% to 6% of cases, is injury to the recurrent laryngeal nerve (RLN). A simple method to identify the RLN during thyroid surgery is described by the authors. It consists in palpation of the nerve caudally to the inferior pole of the thyroid, after the nerve has been made taut by the upward and medial traction of the thyroid gland. This method was used on 47 human cadavers and 45 patients with benign thyroid diseases. It made it possible to identify the RLN in all of the cadavers and 52 of the 55 identifications during 45 thyroidectomies (in 10 total thyroidectomies the identification was bilateral). Laryngeal motility was normal in all patients at postoperative laryngoscopy. Using the palpation before dissection in the region of the inferior thyroid artery, the traditional viewing method became easier and safer, reducing the risk of injury where it is most likely to occur to the nerve.
Cadaver↗
Physicochemical, nutritional, and microstructural characteristics of chickpeas (Cicer arietinum L.) and common beans (Phaseolus vulgaris L.) following microwave cooking.
Microwave cooking of legumes such as chickpeas and common beans was evaluated by assessing the cooking quality (cooking time, firmness, cooking losses, and water uptake) and the physicochemical, nutritional, and microstructural modifications in starch and nonstarch polysaccharides. Compared to conventional cooking, microwave cooking with sealed vessels enabled a drastic reduction in cooking time, from 110 to 11 min for chickpeas and from 55 to 9 min for common beans. The solid losses, released in the cooking water, were significantly less after microwave cooking than after conventional cooking (6.5 vs 10.6 g/100 g of dry seed in chickpeas and 4.5 vs 7.5 g/100 g of dry seed in common beans). Both cooking procedures produced a redistribution of the insoluble nonstarch polysaccharides to soluble fraction, although the total nonstarch polysaccharides were not affected. Increases in in vitro starch digestibility were similar after both cooking processes, since the level of resistant starch decreased from 27.2 and 32.5% of total starch in raw chickpeas and beans, respectively, to about 10% in cooked samples and the level of rapidly digestible starch increased from 35.6 and 27.5% to about 80%. SEM studies showed that the cotyledons maintained a regular structure although most of the cell wall was broken down and shattered by both cooking procedures. In addition, the ultrastructural modifications in the cotyledon's parenchima and cells are consistent with the chemical modifications in NSP and the increase in starch digestibility after cooking.
Cooking↗
Determination of folate vitamers in food and in Italian reference diet by high-performance liquid chromatography.
A trienzyme treatment (conjugase, alpha-amylase, protease) followed by affinity chromatography and reversed-phase HPLC with UV and fluorescence detection was performed for the quantification of folate vitamers in legumes (chickpea and beans), processed meats (salami Milano and Parma ham) and in an Italian reference diet. This method allowed a good separation of six folate vitamers: 5-methyltetrahydrofolate, 5-formyltetrahydrofolate, folic acid, 10-formylfolic acid, 10-formyldihydrofolate and tetrahydrofolate within 30 min. Recovery, reproducibility and limits of detection of the method are reported. HPLC results were 24-52% lower than the microbiological assay findings.
Chromatography, High Pressure Liquid↗
New markers for early diagnosis of acute myocardial infarction.
The availability of 'new' biochemical markers of myocardial injury such as creatine kinase isoforms and troponins has renewed the interest for rapid confirmation/exclusion of myocardial infarction in patients presented to the hospital for suspected acute myocardial ischemia. Many of these protein markers have the potential to allow the diagnosis of acute myocardial infarction at a time from the onset of symptoms when the activity of creatine kinase MB is still within the reference range. However, the exclusion of classical myocardial infarction as defined by WHO criteria does not allow to conclude that the patient is at low-risk and can be safely sent home since he may have high-risk unstable angina. The sensitivity for the detection of myocardial damage of troponins is such that a substantial proportion of patients with unstable angina develop elevations of troponins in the absence of creatine kinase MB increases. It is now clear that such patients have an increased risk of cardiac events over the short and long-term similar to that of patients with definite myocardial infarction. Such finding may help in developing selective admission policies and deciding which patients deserve aggressive treatment.
Biomarkers↗
Polymerase chain reaction and reverse cross blot hybridization assay for detection of mycobacterial DNA in lupus vulgaris.
For 5 years, an 83-year-old man had been suffering from slightly itchy erythematous plaques with clearcut margins, located on his left thigh and on his right arm; in addition, on his right auricle there was an erythematous patch with yellowish shadings that had appeared about 3 years before and had progressively spread to the temporal-zygomatic region, the chin and the mandibular arch. These lesions were strongly suggestive of lupus vulgaris; however the conventional bacteriological examinations performed on the biopsy specimen from lesional skin were negative. A diagnosis of lupus vulgaris was achieved through the detection of the 16S rRNA gene of Mycobacterium tuberculosis in a skin biopsy of the patient by means of a polymerase chain reaction followed by a reverse cross blot hybridization, a method which allows the identification of different mycobacterial species in a single hybridization procedure.
Aged↗
Malignant metastatic eccrine poroma. Proposal for a new therapeutic protocol.
BACKGROUND: Malignant metastatic eccrine poroma is a very rare cutaneous neoplasm, and consequently the references in the literature regarding the treatment of this tumor, known also as porocarcinoma, are very poor. OBJECTIVE: To call attention to a new therapeutic protocol in the treatment of metastatic porocarcinoma, as well as to underline an antineoplastic efficacy of vitamin A analogues. METHODS: The results are presented on the basis of the clinical case of a malignant eccrine poroma with metastatic regional lymph nodes. RESULTS: With our new chemotherapeutic protocol, arrest of the metastatic progression was achieved after 3 months and the remission was maintained until the 10th month of therapy. CONCLUSIONS: A new chemotherapy protocol consisting of isotretinoin and interferon alpha has confirmed the advantages of polychemotherapy in the treatment of metastatic malignant eccrine poroma. On the basis of the considerably long, although incomplete, remission with good drug tolerance in spite of the high doses used as well as the undoubtedly major antineoplastic strength of the latest generation of synthetic retinoids, we feel that these findings could be a good starting point for further experimental verifications of the therapy of this aggressive cutaneous neoplasm.
Acrospiroma↗
A pharmacological study of cocaine activity in planaria.
Planaria has been proposed as a suitable research model in neurobiology because of its relatively simple organization. Dopaminergic agonists induce in this flatworm typical hyperkinesias that can be antagonized by dopaminergic blocking agents. The neurochemical basis of the effects of cocaine in vertebrates has not been fully elucidated, but the inhibition of catecholamine reuptake at a presynaptic level seems to play an important role. In this study we analyzed the involvement of the dopaminergic system in the mechanism of action of cocaine in planaria. The dose-related effects of cocaine on planaria motility and the response to cocaine treatment associated with the administration of specific D1 or D2 dopamine agonists and antagonists were investigated. The effects of reuptake inhibitors on cocaine activity were also studied. Planaria specimens treated with low doses of cocaine become motionless, whereas high doses induce a typical behavioural response, identical to the response induced by specific D2 agonists. This response is inhibited by a D2 selective blocking agent. Nomifensine, a specific dopamine reuptake inhibitor, induces a mixed D1/D2 response. The results of these experiments are discussed, also in relation with the conservation of dopaminergic receptors during evolution.
Amidines↗
Longitudinal change of sonographic ovarian aspects and endocrine parameters in irregular cycles of adolescence.
We longitudinally studied clinical endocrine and ultrasound parameters of the ovaries in 73 healthy adolescents having persistent menstrual irregularities. After the first examination, they were reexamined after a variable period ranging from 2 to 7 y. During the first examination, three basic features of the ovaries were observed: homogeneous (36%), multifollicular (23%), and polycystic (41%). Polycystic ovaries were most frequent, and they generally exceeded the normal adult range. During the last examination, in the entire group of irregular adolescents, homogeneous ovaries decreased (-14%), polycystic ovaries increased (+18%), and a further higher number of subjects exceeded the normal adult range (+10%). The subjects with enlarged ovaries had the highest values of LH, testosterone, and androstenedione. Fourteen subjects out of 46 (30%), with normal ovarian volume in the first examination, registered an ovarian enlargement in the last examination, exceeding the normal range. Moreover, a change from the homogeneous or multifollicular structure to the polycystic one was observed. Twenty-one subjects out of 27 (78%) with enlarged ovaries in the first examination confirmed the high ovarian volume and the unchanged structure in the last examination, whereas six subjects (22%) showed ovaries within the normal adult range; the polycystic structure was substantially confirmed. These results indicate the following. 1) Homogeneous, multifollicular, and polycystic ovaries can usually be found in the postmenarcheal period. 2) Enlarged ovaries, polycystic structure, hyperandrogenemia, and high LH values are strongly linked, and they are frequent in irregular cycles even in the absence of signs of hyperandrogenism. These characteristics may all persist or in various aggregations become a permanent feature. 3) Only a few subjects may lose ovarian enlargement and show a change in the polycystic structure; however, they frequently maintain hyperandrogenemia. 4) During the postmenarcheal period, normal ovarian characteristics may suddenly change, and the ovaries may take on a polycystic structure and increase in volume. Moreover, some endocrine parameters may reach pathologic levels.
Adolescent↗
[VIPoma: surgical treatment].
This paper reports a case of pancreatic VIPoma with widespread hepatic metastasis which was treated for approximately 2 years with a synthetic somatostatin analog (SMS 201/995). The treatment of choice in cases in which the tumour was fully removable is surgical resection. This occurred rarely since approximately 80% of VIPomas are malignant and are operated late when local infiltration is already widespread; in addition, 50% of cases are already metastasised at diagnosis. In this case, due to the infiltration of the superior mesenteric artery by the primary tumour it was necessary to carry out a left pancreasectomy which included two-thirds of the neoplastic mass. This was justified by slow tumour growth and also facilitated control of diarrhea and ensured a greater efficacy of possible postoperative chemotherapy. The use of synthetic somatostatin analog (SMS 201/995) enabled diarrhea to be satisfactorily controlled and is therefore specifically indicated for this type of tumour. NSE serum assay (neuron specific enolase) allowed the evolution of disease to be monitored during follow-up.
Female↗
Endocrine and ovarian parameters at various frequencies of ovulation in adolescents.
We assessed ovarian and endocrine function in 86 adolescents over a six month period. Postmenstrual estrone (E1) and estradiol-17 beta (E2) levels, premenstrual FSH levels and pre- and postmenstrual LH, testosterone (T) and androstenedione (A) levels decreased as the frequency of ovulation increased, while premenstrual E2, progesterone (P) and 17 alpha-hydroxyprogesterone levels increased. Both right and left ovarian volume and the per cent of multifollicular ovaries decreased with an increase in the frequency of ovulation. In the premenstrual phase P values correlated significantly with frequency of ovulation for FSH (r = -0.43: P less than 0.001), LH (r = -0.36: P less than 0.01), T (r = -0.31: P less than 0.05) and A (r = -0.26: P less than 0.05). Our data suggest that in the postmenarcheal period the progressive loss of immature endocrine and ovarian characteristics (high LH, FSH, and androgen levels and enlarged, multifollicular ovaries) is linked to an increasing number of ovulations. Progesterone plays a major role in the development of cyclic function characteristic of adult maturity.
17-alpha-Hydroxyprogesterone↗
Improved high-performance liquid chromatographic analysis with double detection system for L-dopa, its metabolites and carbidopa in plasma of parkinsonian patients under L-dopa therapy.
An analytical method is described for measuring L-3,4-dihydroxyphenylalanine (L-DOPA), 3-O-methyl-DOPA, dihydroxyphenylacetic acid, free catecholamines and the peripheral DOPA decarboxylase inhibitor, carbidopa, in plasma samples of Parkinsonian patients by using high-performance liquid chromatography. A sample preparation method is presented for the isolation of the catecholamines and L-DOPA with its metabolites. Catecholamines are extracted by weak cation exchange on small columns and subsequent adsorption on alumina. L-DOPA, 3-O-methyl-DOPA, dihydroxyphenylacetic acid and carbidopa contained in the column effluents are directly injected in the chromatographic system. The eluates are separated on a reversed-phase column, monitored by both a coulometric electrochemical detector and a fluorescence detector, connected in series. Chromatographic peaks were identified on the basis of their retentions and response ratios of the two detectors. Two examples are presented of therapeutic drug monitoring in Parkinsonian patients treated with oral doses and continuous intravenous infusion of L-DOPA.
Carbidopa↗
Menstrual irregularities in adolescents: hormonal pattern and ovarian morphology.
The endocrine pattern and ovarian characteristics of 110 healthy adolescents with menstrual irregularities were investigated during the early follicular and premenstrual phases and were compared to those of 14 adolescents with regular menstrual cycles and 20 adults. Over a period of six gynecological years a low ovulation rate (49%) was found in the group of subjects with irregular cycles and regular ovulation was noted in only a few subjects. Slight differences in endocrine pattern and ovarian morphology were observed between the group of adolescents with regular cycles and the group of adults. In contrast, adolescents with irregular menses had higher mean values of luteinizing hormone (LH), testosterone (T), and androstenedione (A) in comparison with the other two groups both in follicular and premenstrual phases. Nearly 35% of the subjects with irregular cycles had levels of T, A and LH which were higher than the upper limit of the adult normal range. Lower progesterone (P), 17P and oestradiol values were observed in the premenstrual phase. Within the group of subjects with irregular menses, LH levels were higher in anovulatory than in ovulatory cycles, in both phases of the cycle, while T and A levels were higher and prolactin levels were lower in the premenstrual phase of anovulatory cycles. Unlike irregular anovulatory cycles, irregular ovulatory cycles showed a hormonal pattern similar to that found in the adult group. By ultrasound evaluation, a high percentage of subjects with irregular menses had multicystic ovaries (57.9%) and the mean (+/- SEM) ovarian volume was higher (10.6 +/- 0.5 cm3) than that found in adolescents with regular menses (6.7 +/- 0.8 cm3) and in the adult group (7.7 +/- 0.3 cm3). With the increase in frequency and continuity of ovulation an improvement in the direction of adult volume and ovarian structure was observed. Besides the endocrine similarity the data emphasize the striking similarity, already documented by histological studies, between pubertal ovaries and those seen in micropolycystic ovary syndrome. These endocrine and ovarian characteristics are typical of a large number of adolescents with irregular menstrual cycles: these features may be representative of a developmental step toward adult normality, although the possibility of a pathological evolution for some subjects cannot be excluded.
Adolescent↗
Cholecystokinin-mediated synaptic function and the treatment of neuropsychiatric disease.
Explore the source record for details and available documents.
Animals↗