Aspetti epidemiologici e clinici dell’abuso alcolico

L. Fenoglio, C. Bracco, E. Castagna, E. Migliore, S. Severini, C. Serraino
Struttura Complessa Medicina Interna, Azienda Sanitaria Ospedaliera S. Croce e Carle, Cuneo, e Ia Scuola di Specializzazione in Medicina Interna, Università degli Studi di Torino

Biochimica Clinica: 2007; 31(6): 543-552 [Article in italian]

ABSTRACT.
Epidemiological and clinical aspects of alcohol consumption. Alcohol consumption represents a widespread and increasing phenomenon, implying severe repercussions at social, sanitary and economic levels. It is also related to many diseases, in 40-60% of violence facts and in 25% of mortal crashes. The goal of this work is to review the pathological consequences caused by alcohol on different organs. Hepatopathy is the first consequence of alcohol abuse; alcohol consumption is related to different pathologies: hepatic steatosis, alcoholic hepatitis, cirrhosis, and hepatic cancer. In developed countries, alcohol abuse causes pancreatitis in 38% to 94% of cases. The acute illness can lead to death in 30% of cases. The chronic illness appears after a high dose of alcohol assumption for long periods. Alcohol is a risk factor for esophagitis and Barrett’s esophagus; however, it is not related to peptic ulcer and gastric cancer. There are many evidences showing that DNA damage caused by acetaldehyde increases the risk of head-neck, esophagus and liver cancers; furthermore, the increasing estrogen production noticed in the alcohol abusers seems to be connected to breast cancer. Some neurological complications are linked to the direct toxic effects of alcohol and its metabolites; others are caused by nutritional and metabolic alterations. A high consumption of alcohol increases the risk of hemorragic and ischemic strokes, while a small intake may exert a protective effect on vessels. Finally, alcohol is related to dilatative cardiomiopathy; some recent studies show that a small intake is related to increased risk of coronaric disease or cardiac failure.

Razionale e frequenza dell’automonitoraggio glicemico nei pazienti diabetici
G. Ferrai*, R. Paleari per il Gruppo di Studio Intersocietario SIBioC-SIMeL Diabete Mellito
*Laboratorio di Patologia Clinica, Azienda Ospedaliera “S. Maria degli Angeli”, Pordenone

Biochimica Clinica: 2007; 31(6): 553-557 [Article in italian]

ABSTRACT.
Rationale and frequency of self-monitoring of blood glucose in diabetic patients. Self-monitoring of blood glucose (SMBG) is considered by the current recommendations of the American Diabetes Association (ADA) on glycemic control as an integral part of any management strategy directed toward the achievement of near-normoglycemia. If used properly, SMBG gives an effective reflection of immediate plasma glucose concentrations, thus allowing patients to evaluate their individual response to therapy and to guide adjustments in pharmacological and nutritional therapies. SMBG is recommended for all insulin-treated diabetic patients on the basis of major clinical trial results, supporting a positive effect of regular SMBG for improving glycemia and HbA1c levels. For most patients with type 1 diabetes, SMBG is recommended three or more times daily, although the frequency can vary in relation to the treatment and the instability of glycemia. For patients with type 2 diabetes treated with oral agents or lifestyle modifications, the real efficacy of SMBG for improving glycemic control is still a controversial issue. According to the ADA position, SMBG is useful in achieving glycemic goals, but no optimal timing and frequency of monitoring is suggested for these patients. Literature evidences are very controversial on the role of SMBG in outcome in patients with type 2 diabetes. However, there is consensus that SMBG can be useful in special circumstances, such as during intercurrent illness, in initiating or changing therapy, or in situations with increasing risk with hypoglycemia.

Utilità della determinazione della procalcitonina nel siero come marcatore precoce di infezione batterica con interessamento sistemico in pazienti pediatrici
G. Cattozzo*, D. Graziani, L. Nespoli, G. De Luca
*Azienda Ospedaliera Ospedale di Circolo e Fondazione Macchi, Varese

Biochimica Clinica: 2007; 31(6): 558-561 [Article in italian]

ABSTRACT.
Utility of serum procalcitonin determination as an early marker of invasive bacterial infections in children. Procalcitonin is a protein encoded by the Calc-1 gene along with calcitonin. Blood concentrations of procalcitonin are increased in systemic inflammation caused by bacterial infection, rising independently of calcitonin. The aim of this study was to assess the diagnostic performance of procalcitonin for the early detection of invasive bacterial infections in children with fever evolution within 12 h. We recruited 19 children between 1 and 112 months of age. For children with invasive bacterial infections, serum procalcitonin values ranged from 0.4 to 9.7 mg/L (median, 2.17 mg/L; interquartile range 0.45-4.84 mg/L). For children with either local or viral infection procalcitonin ranged from 0.1 to 1.3 mg/L (median, 0.34 mg/L; interquartile range 0.22-0.48 mg/L). At the threshold of 0.5 mg/L, the sensitivity of procalcitonin for the diagnosis of invasive bacterial infections was 83%, specificity was 85%, positive predictive value 71% and negative predictive value 92%. At a threshold value of 1.5 mg/L, the specificity was 100%, whereas sensitivity was only 50%; positive and negative predictive values were 100% and 81%, respectively. We conclude that procalcitonin cutoffs of 0.5 mg/L and 1.5 mg/L may be adopted, with different levels of sensititivity and specificity, for the early diagnosis of invasive bacterial infections in children with fever evolution within 12 h.

Significato clinico della determinazione dell’ormone follicolo-stimolante nel plasma in relazione ai parametri seminali

C. Foresta*, A. Lenzi, M. Plebani, A. Garolla, R. Selice, A.F. Radicioni, A. Ferlin
*Cattedra di Patologia Clinica, Centro di Crioconservazione dei Gameti Maschili, Dipartimento di Istologia, Microbiologia e Biotecnologie Mediche, Università di Padova

Biochimica Clinica: 2007; 31(6): 562-566 [Article in italian]

ABSTRACT.
Clinical significance of determination of plasma follicle-stimolating hormone (FSH) in relation to seminal parameters. FSH is a key hormone for qualitatively and quantitatively spermatogenesis and its plasma concentrations are considered marker of Sertoli cells function. However, the predictive power of FSH plasma concentrations is generally low in identifying oligo-azoospermic subjects (sperm count <20 mil/ml). Previous studies showed differences in the FSH cutoffs, with different sensitivity rates and different features of the control groups. Only one study compared idiopathic oligo-azoospermic subjects to fertile subjects with normal sperm count, showing that FSH concentrations cannot predict a seminal damage. In this study we analyzed 379 consecutive non obstructive azoospermic or oligospermic subjects compared to 271 normozoospermic controls of unknown fertility. FSH was measured by a chemiluminometric method. FSH plasma concentrations showed a negative correlation with sperm count and higher values in patients (12.9±11.4 UI/L) in comparison to controls (4.0±2.0 UI/L, P <0.0001). Median FSH was 3.6 UI/L in controls, with 1.5 and 7.7 UI/L as 5th and 95th percentile values, respectively. We identified a cutoff of 7.6 UI/L defining a specificity of 95% and a sensivity of 60%, respectively.

Valutazione di un esame funzionale basato sul tempo di protrombina nello studio della resistenza alla proteina C attivata

S. Valverde*, G. Gessoni, R. Canistro, D. Basso, F. Navaglia, F. Antico, E. Trabuio, F. Manoni
*Servizio di Medicina di Laboratorio e 2Servizio di Ematologia, A-ULS 14 Chioggia

Biochimica Clinica: 2007; 31(6): 567-572 [Article in italian]

ABSTRACT.
Evaluation of a prothrombin time (PT)-based functional test to study the activated protein C resistance. In clinical laboratories the first approach for diagnosis of Factor V Leiden (FVL) mutation is based upon functional tests revealing an activated protein C resistance (APCr). In this study we evaluated the efficiency of a new PT-based APCr test to detect FVL (Pefakit FVL). We studied 150 consecutive patients sent to our laboratory to investigate the presence of thrombophilia risk factors after an episode of deep venous thrombosis. The genetic study identified 66 (44%) FVL carriers (60 heterozygotes and 6 homozygotes). The Pefakit FVL allowed a perfect discrimination between normal subjects and FVL carriers, with a correct classification of 6/6 homozygotes and 59/60 heterozygotes. One heterozygous subject, classified as homozygous, showed a FV deficiency and was finally considered as a “pseudo-homozygote”. By using the Pefakit FVL we did not observed interferences by heparin, oral contraceptives, oral anticoagulant therapy, protein C, protein S, D-dimer, plasma homocysteine, presence of MTHFR mutations and antiphospholipid autoantibodies. In our experience, this PT-based APCr assay provided improved discrimination between healthy subjects and FVL carriers when compared with classical activated partial thromboplastin time (aPTT)-based methods; moreover, this new assay allowed a good discrimination between homozygous and heterozygous FVL patients.

La riorganizzazione dei laboratori clinici: l’obiettivo è il valore per il paziente

M. Plebani*, G. Barletta
*Dipartimento Medicina di Laboratorio, Azienda Ospedaliera-Università di Padova

Biochimica Clinica: 2007; 31(6): 573-580 [Article in italian]

ABSTRACT.
The goal of clinical laboratory reorganization should be the value for the patient. The role of Laboratory Medicine within healthcare systems is well understood only when the importance of laboratory for patient care is highlighed. Process management (particulary the implementation of clinical and patient pathways) can give a good support to it. Planning, doing and critical reviewing patient pathways is based on the presence of laboratory specialists to guarantee good levels of care to patients and assure efficiency to the system. Clinical pathways are the “field” where we can measure the outcome of laboratory tests. In this way, a clear and objective evaluation of the impact of diagnostic procedures becomes possibile. Reorganization models for clinical laboratoires should pursuit the value for the patient, following four simple rules: a) the value for the patient is the goal; b) healthcare services should be designed on the basis of clinical conditions and patient pathways; c) results should be measured in terms of clinical outcome and total economic impact, and d) competition among laboratories should be based on quality and not only on costs. Basically, the best model is an integrated network for patient care, putting together university hospitals and primary care facilities. In this way laboratory professionals will be strongly connected with their healthcare context and their effectiveness will be clear to all stakeholders.

Esecuzione dell’esame di tolleranza orale al glucosio (OGTT): indagine nazionale su una coorte rappresentativa dei laboratori italiani

A. Caldini*, M. Orsini Federici, A. Terreni, P. Andreani, A. Lapolla, M. Massi Benedetti, R. Testa, A. Mosca per il Gruppo di Studio Intersocietario SIBioC-SIMeL Diabete Mellito
*Laboratorio Generale, Dipartimento Diagnostica di Laboratorio, Azienda Ospedaliero-Universitaria Careggi, Firenze

Biochimica Clinica: 2007; 31(6): 581-587 [Article in italian]

ABSTRACT.
National survey on the execution of the oral glucose tolerance test (OGTT). The aim of the present survey was to evaluate the adherence of Italian laboratories to the internationally accepted guidelines in carrying out the OGTT for the diagnosis of diabetes in the general population and for the screening of gestational diabetes mellitus (GDM). A questionnaire was designed to investigate issues related to the OGTT and sent to 400 specialists in laboratory medicine working in public or private laboratories nationwide. Only 50% of the laboratories performed the OGTT according to protocols defined in agreement with local reference diabetes centres. OGTT using 75 g of glucose in adults and 1.75 g/kg for children, as recommended by WHO, was performed by 87.1% of the laboratories. WHO indications to collect samples at baseline and at 120 min were followed by 33.2% of the centres. Higher variability was highlighted with respect to the methodology for GDM screening: 49.8% of the laboratories always adopted the two-step procedure consisting of a glucose challenge test and subsequent OGTT in positive cases; 4.9% performed the 100-g OGTT with four blood samples; 1.6% the 75-g OGTT with two blood samples; and 2.7% the 75-g OGTT with four blood samples. Relevant variability was highlighted for performance of the OGTT in general and GDM screening in particular. A variable relationship between laboratories and diabetes centres was also detected, which might represent a relevant indicator for the rationalisation and standardisation of the method for performing an OGTT.

Indagine conoscitiva sull’utilizzo dei marcatori biochimici di rimodellamento osseo

F. Pagani*, G. Bonetti, M. Cristoferi, A. Vernocchi, M. Vitillo, C. Zuppi, M. Zaninotto, M. Panteghini per il Gruppo di Studio SIBioC Marcatori Biochimici di Rimodellamento Osseo
*Azienda Ospedaliera “Spedali Civili”, Brescia

Biochimica Clinica: 2007; 31(6): 588-591 [Article in italian]

ABSTRACT.
National survey on measurement of markers of bone remodelling. Bone biomarkers can be determined in serum and urine to evaluate the formation and resorption phases of bone remodelling. The SIBioC Working Group on Biochemical markers of bone turnover has performed a survey to investigate the utilization of bone markers among Italian laboratories. A questionnaire has been distributed concerning analytical and preanalytical aspects and clinical utilization. The need for a national EQAS was also investigated. A total of 67 laboratories responded, 37 of which (55%) routinely performed the biomarker measurements. Most of these laboratories (78%) determined both formation and resorption markers to study bone remodelling. Immunometric assays were used by the majority of laboratories. Reference intervals were heterogeneous, due to the variety of analytical assays. The types of urine samples for resorption marker determination were also heterogeneous: first morning, 2 h and 24 h samples were used in different laboratories. Bone marker determinations were prescribed in most cases by general practitioners (85%), but also by specialists (e.g. endocrinologists). Interest for a national EQAS was expressed by 81% of participants. From the collected data it is evident that only a minority of laboratories measure bone markers. An educational activity to promote bone marker determination and to standardize reference intervals and the type of biological specimen for determination is needed.

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