Hormonal and metabolic gender differences in a cohort of myotonic dystrophy type 1 subjects: a retrospective, case-control study.

PURPOSE: Myotonic dystrophy type 1 (DM1) is a genetic disorder caused by CTG expansion in the DMPK gene. The aim was to investigate the endocrine and metabolic aspects of DM1. PATIENTS AND METHODS: Retrospective, case-control study. We compared pituitary, thyroid, adrenal, gonadal and liver function and glycolipid metabolism of 63 DM1 patients against 100 control subjects. Given age-related differences, 2 further subgroups were created to investigate the pituitary-gonadal axis: < 41 (1a) and ≥ 41 (1b) years old for male subjects and < 46 (2a) and ≥ 46 (2b) years old for female subjects. Testicular and thyroid ultrasounds were also performed in the DM1 group. RESULTS: FT3 and FT4 were significantly lower in DM1 men than controls, while for both males and females, thyroglobulin, ACTH and cortisol were significantly higher in the DM1 group. Gonadotropin levels were significantly higher and inhibin B and DHEA-S levels significantly lower in DM1 patients than controls for both male subgroups. Testosterone and SHBG were significantly higher in controls than in patients for subgroup 1a. Prolactin was significantly higher in patients in subgroups 1b, while testosterone was lower in subgroup 2a than in age-matched female controls. A correlation between the number of CTG repeats and the percentage of male hypogonadal subjects was found. Finally, there was a worse glucose and lipid pattern and significantly higher transaminase and gamma-GT levels in both male and female patients. CONCLUSIONS: The high frequency of endocrine and metabolic abnormalities in DM1 highlights the importance of endocrine monitoring to enable the prompt initiation of a suitable therapy.

Occult HBV infection may negatively impact on drug survival in patients with rheumatoid arthritis on treatment with a first biologic drug. An appraisal from the Biologic Apulian Registry (BIOPURE).

We performed a retrospective analysis to evaluate the survival on first line biologic drug of rheumatoid arthritis (RA) patients with potential occult HBV infection (pOBI). We analysed longitudinal data of 486 consecutive RA patients starting a first biological drug in a time frame from 1st January 2008 to 31st December 2014. Demographic and disease related characteristics were collected at baseline and at the last observation visit. Baseline serological markers of HBV infection and causes of treatment discontinuation were also recorded. Primary endpoint was the influence of pOBI on drug survival, estimated by Kaplan-Meier life table analysis. Estimates hazard ratios (HRs) of drug discontinuation, adjusted for disease characteristics, biological drug class and HBcAb status were computed by Cox-regression models. The retention rate was significantly lower in pOBI positive patients (58.2%) when compared to pOBI negative ones (67.8%) and this data was confirmed also when only discontinuation due to ineffectiveness was considered (pOBI positive 66.4% vs pOBI negative 75.3%, long rank 7.93, p=0.005). Cox regression models showed a significant association between HBcAb-neg (HR 0.58, 0.41-0.84), higher ESR-DAS28 at baseline (HR 1.07, 1.03-1.11) or RF/ACPA-neg (HR 1.46, 1.04-2.06) and drug discontinuation. Occult HBV infection seems to influence negatively the effectiveness of biological therapies in RA patients.

Role of Whole-Body MR with DWIBS in child's Bartonellosis.

Cat-scratch disease (CSD) is a zoonosis in children, result of infection by Bartonella henselae, a gram-negative bacillus. Infection is generally characterized by regional and self-limited lymphadenopathy after exposure to a scratch or bite from a cat. Rarely, B. henselae is cause of fever of unknown origin (FUO), with dissemination to various organs, most often involving the reticuloendothelial system (liver, spleen, bone marrow), mimicking an inflammatory rather than a lymphoproliferative disease. Whole-body Magnetic Resonance Imaging (WBMRI), in association with diffusion-weighted imaging (DWIBS), allows a comprehensive evaluation of pediatric patients, without the risks inherent to ionizing radiation. It is a rapid and sensitive method for detecting and monitoring multifocal lesions such as proliferative or inflammatory and infectious processes. We report a case of systemic CDS in an immunocompetent young boy with fever of unknown origin, without history of cat contact, investigated by WBMRI.

European official control of food: Determination of histamine in fish products by a HPLC-UV-DAD method.

The evaluation of histamine content in fish and fishery products, responsible for scombroid poisoning, is essential to guarantee the safety of food. EU regulation requires validated analytical methods to ensure the verification of compliance with food law in official control activity. To this aim a previous gradient RP-HPLC method with DAD detection was modified and validated, according to international guidelines. The reliability of results was tested by analysing fish reference materials within the participation in European proficiency tests. The method has been used for the analysis of real samples consisting of several fish-based products with considerable differences in matrix composition. This characteristic is of great relevance to be able of apply the method in the field of official control.

Reference ranges for thyroid hormones in normal Italian children and adolescents and overweight adolescents.

BACKGROUND: As thyroid hormones are essential for normal pubertal growth and sexual development, TSH, free T3 (FT3) and free T4 (FT4) levels undergo progressive modification during childhood and puberty. AIM: To establish thyroid hormone reference ranges in pre-pubertal children, pubertal adolescents, and adults and to evaluate any differences in thyroid function between overweight and normalweight pubertal subjects. SUBJECTS AND METHODS: Chemiluminescent microparticle immunoassay was used to analyze TSH, FT3 and FT4 concentrations in serum samples from 508 children and adolescents aged 6 to 18 yr and 100 healthy adults aged 30 to 60 yr, and from 68 overweight pubertal adolescents. As data were not normally distributed, we compared them through non-parametric tests for independent samples and the reference ranges were assumed to lie between the 2.5th and 97.5th percentile. RESULTS: We found a progressive and significant reduction in TSH, FT3, and FT4 levels in the three groups with increasing age. TSH levels were significantly higher in overweight patients than in the normal-weight group, but there were no significant differences for FT3 or FT4. CONCLUSIONS: This study revealed significant differences in levels of thyroid hormone between different age groups and allowed us to establish normal reference ranges for pre-pubertal children between 0.87-5.19 mIU/l for TSH, 4.75-8.59 pmol/l for FT3, and 13.09-20.61 pmol/l for FT4, and for pubertal adolescents between 0.76- 4.51 mIU/l for TSH, 4.26-8.46 pmol/l for FT3 and 10.94-19.09 pmol/l for FT4.

Proficiency test for the determination of heavy metals in mineral feed. The importance of correctly selecting the certified reference materials during method validation.

In 2008, the International Measurement Evaluation Programme, IMEP®, organised two proficiency tests (PTs) for the determination of heavy metals in mineral feed, named IMEP-105 and IMEP-27, respectively. IMEP-105 was organised in support of the activities of the European Union Reference Laboratory for Heavy Metals in Feed and Food, and participation was restricted to the officially nominated National Reference Laboratories (NRLs). IMEP-27 was open to all interested control laboratories in the field. The test material used in the two PTs was the same and the timeframe of the two exercises overlapped. The measurands in both exercises were total Cd, Pb and As and extractable Cd and Pb, as defined in Directive 2002/32/EC of the European Parliament and the Council on undesirable substances in animal feed. Forty-nine laboratories from 25 countries reported results to the two exercises, 29 to IMEP-105 and 20 to IMEP-27. In both PTs, external reference values were used instead of consensus values derived from the participants' results. It was shown that the concentration of total and extractable Cd according to Directive 2002/32/EC were identical, while the concentration of extractable Pb was ~80% of total Pb. The main outcome of these comparisons was that an underestimation of the concentrations of the addressed measurands, in particular total Pb, took place due to an erroneous estimation of the bias of the analytical methods used by most of the participants. It appeared that the nature of the certified reference materials chosen for method validation and recovery estimation was the cause of the problem (insufficient matching of the matrix characteristics between these materials and the test sample). No significant difference between the results reported to IMEP-105 and to IMEP-27 was observed.

High coexpression of both insulin-like growth factor receptor-1 (IGFR-1) and epidermal growth factor receptor (EGFR) is associated with shorter disease-free survival in resected non-small-cell lung cancer patients.

BACKGROUND: Insulin-like growth factor receptor-1 (IGFR-1) represents a novel molecular target in non-small-cell lung cancer (NSCLC). IGFR-1 and epidermal growth factor receptor (EGFR) activation is essential to mediate tumor cell survival, proliferation and invasion. We explored the correlation between IGFR-1 and EGFR, their relationship with clinicopathological parameters and their impact on outcome in resected stage I-III NSCLC patients. PATIENTS AND METHODS: Tumors from 125 surgical NSCLC patients were evaluated for IGFR-1 and EGFR expression by immunohistochemistry. Kaplan-Meier estimates of survival and time to recurrence were calculated for clinical variables and biologic markers using the Cox model for multivariate analysis. RESULTS: IGFR-1 protein overexpression was detected in 36.0% of NSCLC patients and was associated with larger tumor size (P = 0.04) but not with other clinical or biological characteristics. EGFR protein overexpression was observed in 55.2% of NSCLC, more frequently in squamous cell carcinoma (SCC) than non-SCC (63.7% versus 36.3%, chi(2) = 9.8, P = 0.001). IGFR-1 protein expression was associated with EGFR protein expression (P = 0.03). At the multivariate analysis, high coexpression of both IGFR-1 and EGFR was a significant prognostic factor of worse disease-free survival (DFS) (hazard ratio 2.51, P = 0.01). CONCLUSION: A statistically significant association was observed between high coexpression of both IGFR-1 and EGFR and worse DFS in early NSCLC patients.

[Surgical treatment of well differentiated neuroendocrine tumours of the lung]. / Terapia chirurgica dei tumori neuroendocrini ben differenziati del polmone.

The bronchial tree represents the most frequent site of origin of carcinoids (around 25% of the total). The spectrum of differentiation of lung neuroendocrine tumors ranges from low-malignancy (carcinoids) to highly aggressive forms (small cell lung carcinoma) Diagnostic and therapeutic strategies therefore vary greatly. In well differentiated tumors (carcinoids) signs and symptoms are related to the airways obstruction in central forms, while peripheral forms are mostly discovered accidentally if asymptomatic. Clinical or subclinical paraneoplastic syndromes are associated in a minority of cases. Diagnostic work-up includes CT multislice, bronchial endoscopy and Octreoscan with chest Single Photon Emission Computed Tomography (SPECT). Further contribute may be added by the (68), Ga-DOTA-D-Phe(1)-Tyr(3)-ocreotide (DOTATOC) and 5-hydroxytryptophan (5-HTP) PET-CT, at present available only in a few centres, and by endobronchial ultrasound (EBUS), fluorescence bronchoscopy and virtual bronchoscopy. Surgery is the treatment of choice, while medical therapy is useful to treat the hypersecretion in paraneoplastic syndromes and to control tumor proliferation in metastatic or/and inoperable disease.

[Lymphectomy in differentiated thyroid cancers: our experience]. / La linfectomia nelle neoplasie differenziate della tiroide: nostra esperienza.

INTRODUCTION: At present we are still debating on which is the most adequate therapeutic strategy concerning the size of the thyroidectomy and the extension of the lymphectomy in differentiated thyroid tumors. PATIENTS AND METHODS: From January 2000 to December 2005, 334 operations for thyroid neoplasms have been performed; 304 (91%) for differentiated tumors. In 124 cases (37%) the latero-cervical and/or the central compartment lymphectomy have been associated with thyroidectomy: 79 monolateral and central compartment lymphectomies (ML and CCL) (64%), 11 bilateral and central compartment lymphectomies (BL and CCL) (8%), and 34 central compartment lymphectomies (CCL) (28%) have been performed. RESULTS: Out of the 124 lymphectomies, in 44 cases (35.5%) we found the presence of metastasis in the lymph nodes of latero-cervical and central compartments, in 10 cases (8%) absence of metastasis in the lymph nodes of the latero-cervical and central compartments, in 25 cases (20%) presence of metastasis in the latero-cervical lymph nodes and absence of metastasis in the lymph nodes of the central compartment. In 11 cases of bilateral and central compartment lymphectomies, 5 of them (4%) had positive lymph nodes of the latero-cervical and central compartments, while the other, only 6 (5%), had positive latero-cervical lymph nodes on the same side as the neoplasia. In 34 central compartment lymphectomies there was absence of metastasis. Mortality rate was zero. There was one case (0.8%) of recurrent laryngeal nerve temporary bilateral palsy (RTBP); 4 cases (3.2%) of recurrent temporary monolateral palsy (RTMP); 2 cases (1.6%) of definitive monolateral palsy (DMP); 29 cases (23.5%) of temporary hypoparathyroidism (TH); 7 cases (5.5%) of definitive hypoparathyroidism (DH). CONCLUSIONS: Latero-cervical lymphectomy should be performed by necessity when clinical tests or pre-diagnostic exams show suspect lymph nodes, whereas central compartment lymphectomy should be performed in any case of thyroid neoplasia.

Effect of acetate-free biofiltration on the anaemia of haemodialysis patients: a prospective cross-over study.

BACKGROUND: The discussion about the pathogenesis of renal anaemia, whether it is primarily due to relative erythropoietin (Epo) deficiency or to uraemic inhibition of erythropoiesis, is still open. Although it has so far not been possible to identify or isolate a substance retained in uraemia with a suppressive action directed specifically against red-cell production, dialysis therapy can improve the effect of both residual endogenous Epo and exogenous rHuEpo. To what extent the mode and/or the dose of dialysis influence Epo efficacy is as yet poorly understood. METHODS: This study was performed as a single-centre trial. The protocol included a run-in period of 4 months followed by a prospective cross-over study including 6 months each of acetate-free biofiltration (AFB) with a high-flux biocompatible membrane and standard bicarbonate dialysis (BD) with a low-flux cellulosic membrane in a random sequence. AFB is a haemodiafiltration technique based on a continuous post-dilution infusion of a sterile isotonic bicarbonate solution. At the start of the run-in period (and for the entire length of the study), rHuEpo administration was withdrawn; patients whose haemoglobin (Hb) levels dropped at a level <8.0 g/dl at one single monthly check, had to be withdrawn from the study. A blood sample was collected every month for the blood gas analysis and for the determination of blood urea nitrogen, serum creatinine, sodium, potassium, calcium, phosphorus, Hb, erythrocyte, reticulocyte, leukocyte and thrombocyte cell counts, mean globular volume and haematocrit. An equilibrated single pool Kt/V(urea)>1.2 was mandatory in both treatment modalities. Serum iron, total iron-binding capacity, and ferritin were checked every 3 months. RESULTS: Twenty-three of 137 haemodialysis patients were considered eligible for the trial on the basis of the entry criteria. Of these, 15 volunteered and only 10 completed the study. No significant differences in the haematological indices, in the biochemical parameters assessing body iron stores, or in i.v. iron dosage was observed when comparing AFB with BD treatments. The equilibrated single pool Kt/V(urea) was always >1.2 and in no case was a significant difference observed when comparing AFB with BD treatments. Treatment time was significantly different between the two treatments (262+/-2 min in BD and 249+/-1 in AFB, P<0.0001). Neither pre- nor post-dialysis systolic and diastolic blood pressures, pre-dialysis serum bicarbonate and pH, pre-dialysis serum sodium, potassium, calcium, or phosphorus were significantly different when comparing the two treatment modalities. All 10 patients completed the 1-year follow-up without any major side-effects. CONCLUSIONS: Our study did not show any improvement of anaemia when treating a highly selected patient group, in the absence of any Epo therapy, with AFB compared with standard BD. Even though these conclusions cannot be extended in toto to the entire dialysis population, in which there is a large proportion of Epo-treated patients with Hb levels around 11 g/dl, we may nevertheless conclude that when patients are well selected, adequately dialysed, and not iron- and/or vitamin-depleted, the effect of a haemodiafiltration technique with a high-flux biocompatible membrane is less than might be expected from the results of uncontrolled studies.

Efficacy and safety of haemodialysis treatment with the Hemocontrol biofeedback system: a prospective medium-term study.

BACKGROUND: Hypovolaemia has been implicated as a major causal factor of morbidity during haemodialysis (HD). A model biofeedback control system for intra-HD blood volume (BV) changes modelling has been developed (Hemocontrol), Hospal Italy) to prevent destabilizing hypovolaemia. It is based on an adaptive controller incorporated in a HD machine (Integra), Hospal Italy). The Hemocontrol biofeedback system (HBS) monitors BV contraction during HD with an optical device. HBS modulates BV contraction rates by adjusting the ultrafiltration rate (UFR) and the refilling rate by adjusting dialysate conductivity (DC) in order to obtain the desired pre-determined BV trajectories. METHODS: Nineteen hypotension-prone uraemic patients (seven males, 12 females; mean age 64.5+/-3.0 SEM years; on maintenance HD for 80.5+/-13.2 months) volunteered for the present prospective study that compared the efficacy and safety of bicarbonate HD treatment equipped with HBS, as a whole, with the gold-standard bicarbonate treatment equipped with a constant UFR and DC (BD). The study included three phases: Medium-term studies started with one period of 6 months of BD and always had a follow-up period of HBS treatment ranging from 14 to 30 months (mean 24.0+/-1.6); short-term studies started in September 1999, when all patients went back to BD treatment for a wash-out period of 4 weeks and a short-term study period of a further 3 weeks (phase A). Afterwards, they once again started HBS treatment for a wash-out period of 4 weeks and a short-term study period of a further 3 weeks (phase B). Every patient underwent acute studies during a single HD run, once during phase A and once in phase B. Resistance (R) and reactance (Xc) measurements were obtained utilizing a single-frequency (50 kHz) tetrapolar bioimpedance analysis (BIA). Extracellular fluid volume (ECV) was calculated from R, Xc, and height and body weight measurements using the conventional BIA regression equations. RESULTS: The overall occurrence of symptomatic hypotension and muscle cramps was significantly less in HBS treatment in both medium- and short-term studies. Self-evaluation of intra- and inter-HD symptoms (worst score=0, best score=10) revealed a statistically significant difference, as far as post-HD asthenia was concerned (6.2+/-0.2 in HBS treatment vs 4.3+/-0.1 in BD treatment, P<0.0001). No difference was observed between the two treatments when comparing pre- and post-HD lying blood pressure, heart rate, body weights and body weight changes in medium- and short-term studies. The residual BV%/ Delta ECV% ratio, expression of the vascular refilling, was significantly higher during HBS treatment in acute studies. CONCLUSIONS: HBS treatment is effective in lowering hypovolaemia-associated morbidity compared with BD treatment; this could be related to a greater ECV stability. Furthermore, HBS is a safe treatment in the medium-term because these results are not achieved through potentially harmful changes in blood pressure, body weight, and serum sodium concentration.

Familial mastocytosis associated with neurosensory deafness.

Mastocytosis is a disease characterized by excessive accumulation of mast cells in different tissues and symptoms caused by the release of mast cell mediators. The skin is frequently directly involved in mastocytosis. The disease is rarely seen in other members of the subjects' family; only 49 cases of familial mastocytosis have been reported. Familial mastocytosis associated with hearing loss may represent a newly described inherited entity. We describe a brother and sister exhibiting skin mastocytosis and neurosensory deafness, associated with a history of hearing loss in their father's family. The appearance of the mast cell disease in two siblings, who presented with similar clinical features represents a familial form of mastocytosis; the association with an inherited form of deafness may constitute a new syndrome. Our patients show several features similar to some previously reported cases but different insofar that additional congenital defects and mental retardation are absent.

Liver cancer is induced by a subnecrogenic dose of DENA when associated with fasting/refeeding: role of glutathione-transferase and lipid peroxidation.

In previous studies, we reported that fasting/refeeding has a role in sustaining the initiation of liver cancer by a subnecrogenic (noninitiating) dose of diethylnitrosamine (DENA). This research investigated whether the metabolic alterations imposed by fasting/refeeding provide an imbalance between the generation of carcinogenic molecules and the scavenger defense mechanisms in rat liver. Metabolism of DENA, levels of reduced glutathione (GSH) and GSH transferase (GST) activity, as well as basal and stimulated malondialdehyde (MDA) production, were examined. Rats fasted for 4 days showed a decrease in the liver levels of GSH, GST activity, monounsaturated fatty acids and % of labeled nuclei. After 1 day of refeeding, at which point DENA was administered, the levels of GSH recovered, GST activity remained below control values, basal and stimulated MDA production and content of total polyunsaturated fatty acids in liver phospholipids decreased. One day after DENA treatment, MDA production further decreased, although the % of labeled nuclei increased. No significant changes in the content of arachidonic acid, the main target of peroxidation, were observed at any time. The results indicated that the induction of the hepatocellular carcinoma was associated with a depression of GST activity and lipid peroxidation when rats were given 20 mg/kg of DENA after 1 day of refeeding after 4-day fasting.

Fatal Streptococcus viridans descending mediastinitis: case report and review of the literature.

Mediastinitis is a life-threatening complication of cardiac, neck and oesophageal surgery. It has also been reported following upper digestive and respiratory procedures and as a consequence of oesophageal perforation following the ingestion of foreign bodies. Much more infrequently, mediastinitis can occur in association with oropharyngeal or cervical infections. We describe the case of a patient with fatal mediastinitis and septic shock. The onset of mediastinitis was preceded by a 2-day course of sore throat and other flu-like symptoms.

Leber's hereditary optic neuropathy (LHON)-related mitochondrial DNA sequence changes in italian patients presenting with sporadic bilateral optic neuritis.

Eighteen Italian patients presenting with sporadic, bilateral, simultaneous, or sequential optic neuritis (ON) were evaluated for 14 base changes in mitochondrial DNA (mtDNA) previously found associated with Leber's hereditary optic neuropathy (LHON), aiming to identify at a molecular level LHON cases with nontypical phenotypes. During a 36-month follow-up, 11 ON patients developed clinical or laboratory features allowing diagnosis of clinically definite multiple sclerosis (MS). None was positive for any of the "primary" LHON-associated mutations. However, single or multiple "secondary" LHON-associated sequence changes at 4216/ND1, 4917/ND2, and 13708/ND5 were detected in ON and ON-MS patients. MS controls without visual failure as well as healthy control subjects harbored the same base changes at similar frequencies. In addition, coexistence of three sequence changes was found in two cases (1 ON-MS patient and 1 MS control patient). We also report finding two new neutral sequence base changes in the ND-4 gene which were identified by SSCP and confirmed by automated DNA sequence analysis. The results suggests that these secondary mutations do not contribute to MS susceptibility in these patients, but rather represent neutral mitochondrial DNA polymorphisms. In addition, whether there are biochemical abnormalities related to single and multiple secondary mtDNA sequence changes remain to be demonstrated.

Fluorescence-based DNA minisequence analysis for detection of known single-base changes in genomic DNA.

We describe a rapid, automated method for direct detection of known single-base changes in genomic DNA. Fluorescence-based DNA minisequence analysis is employed in a template-dependent reaction which involves a single nucleotide extension of an oligonucleotide primer by the correct fluorescently-tagged dideoxynucleotide chain terminator. Detection following electrophoresis on denaturing acrylamide gels is facilitated by alkaline phosphatase treatment of reaction products after extension followed by isopropanol precipitation of the dye-tagged, single-base-extended primer to remove unincorporated deoxynucleotides. Fluorescence analysis of the incorporated dye tag reveals the identity of the template nucleotide immediately 3' to the primer site. This technique does not require radioactivity or biotinylated PCR product, relies on the incorporation of a single dideoxynucleotide terminator to extend the primer by one nucleotide and takes advantage of the sensitivity of fluorescent terminators developed for automated DNA sequence analysis. As a demonstration, we have applied the assay to human genomic DNA for detection of the sickle mutation in the beta-globin gene, and have also examined feasibility for simultaneous delineation using a multiplex-like strategy in a single gel-lane of some of the most common beta-thalassemia mutations in the Mediterranean basin.

Cytologically balanced t(2;20) in a two-generation family with alagille syndrome: cytogenetic and molecular studies.

Alagille syndrome is a clinically defined, dominantly inherited disorder affecting the liver, heart, face, eye, and vertebrae. Alagille syndrome has previously been localized to the short arm of chromosome 20, on the basis of reports of a small number of patients with chromosomal deletions of 20p. We undertook a cytogenetic study of patients with Alagille syndrome and identified a family in which a cytologically balanced translocation between chromosomes 2 and 20, 46,XX/XY, t(2;20)(q21.3;p12), is segregating concordantly with the disease. The breakpoint on chromosome 20p in this t(2;20) is consistent with the shortest region of overlap demonstrated in the reported deletion patients. This is the first report of a translocation associated with 20p and Alagille syndrome, and this rearrangement confirms the location of the Alagille disease gene at 20p12. We have established a somatic cell hybrid from a lymphoblastoid cell line from one of the affected individuals that contains the derivative chromosome 20 (20qter-->p12::2q21.3-->qter) but not the derivative chromosome 2, the normal chromosome 2, or the normal chromosome 20. Southern blot and PCR analysis of probes and sequences from 20p have been studied to define the location of the translocation breakpoint. Our results show that the breakpoint lies distal to D20S61 and D20S56 within band 20p12.

[Computerized rhinomanometry in legal medicine]. / Rinomanometria computerizzata in medicina legale.

The medico-legal evaluation of the damage deriving from nasal respiratory function handicap is based on anamnestic data and rhinoscopic findings. These parameters can actually be integrated by means of functional parameters obtained by rhinomanometry. Today such a method is reliable and well standardized. The possibility of obtaining some nasal function parameters by objective methodology is highly useful in clinical and forensic medicine. In the present work the mean values obtained from total nasal resistance testing have been matched with those referring to the single nasal cavity by submitting two groups to automated rhinomanometry: one of subjects with normal rhinoscopy, the other of subjects showing nasal stenosis. Each test was performed by submitting the patient to thirty minutes of acclimatization. The patient was sitting with a mask suitably hooked up to the rhinomanometer which was, in turn, interfaced to a P.C. by means of an original acquisition system. The preliminary calibration was automatically made once a day. If calibration was incorrect the program impeded data recording. On the basis of the obtained data an attempt was made to identify a nasal resistance value which could be considered as a threshold; a dividing line between normal and stenosis values. Analyzing the obtained parameters it was rather found that a band of intermediate values lay between certain nasal perviousness and "heavy" stenosis. In this manner it was possible to define the total and unilateral nasal resistance values below which ventilatory function is always normal as well as a value above which the resistance values of stenosis are significant.(ABSTRACT TRUNCATED AT 250 WORDS)