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We aimed to analyze bone mineralization and the effect of different risk factors for osteoporosis in postmenopausal women. We studied 2,756 postmenopausal subjects out of ≥10,000 records from the ROIS registry in the frame of the PROF Project, a population study carried out in Salento (Taranto, Brindisi, Lecce) from 2009 to 2012. All subjects were assessed by phalangeal Quantitative Ultrasound (QUS) to evaluate their bone mineralization (assessed by Amplitude Dependent Speed of Sound, AD-SoS) and the association between demineralization and the presence of other conditions or risk factors. Mean age was 64±9.5 years and mean BMI was 28.7±3.5 Kg/m 2 . Pearson correlation analyses revealed a negative association between bone mineralization (AD-SoS) and BMI (P

Objectives : We aimed to analyze bone mineralization and the effect of different risk factors for osteoporosis in postmenopausal women. Methods : We found 4909 postmenopausal subjects within ≥10,000 records from the ROIS/EMEROS (Ionian and Salento Osteoporosis Registry/Euro Mediterranean Registry of Osteoporosis) registry, a population study carried out in an area characterized by heavy environmental pressure between Brindisi and Taranto from 2009 to 2016. All subjects were assessed via phalangeal quantitative ultrasound (QUS) to evaluate their bone mineralization (assessed via amplitude dependent speed of sound (AD-SoS)) and the association between demineralization and the presence of other conditions or risk factors. Results : Mean age was 64 ± 9.5 years and mean body mass index (BMI) was 28.7 ± 3.5 kg/m². Pearson correlation analyses revealed a negative association between bone mineralization (AD-SoS) and BMI ( p < 0.001). By using multivariate logistic regression analysis, we observed significant values of odds ratios (ORs) of osteoporosis (adjusted for age, physical activity, and the use of drugs known to increase the risk of fractures) in subjects with diabetes and obesity: 1.39 (confidence interval (CI): 1.05-1.83) and 1.46 (CI: 1.20-1.78), respectively. A statistically significant linear trend of higher ORs of osteoporosis was found for increasing values of BMI. Conclusions : Our study confirmed the high impact of obesity and type 1 and type 2 diabetes on osteoporosis., Competing Interests: The authors declare no conflict of interest.

Objective: To assess the burden of regional environmental factors influencing the incidence of Melanoma in the Italian population and overcome the problem of partial population coverage by local cancer registries and thematic archives., Methods: We analyzed the Italian national hospitalization records from 2001 to 2008 provided by the Ministry of Health, excluding hospital re-admissions of the same patients, in order to assess the occurrence of Melanoma over a 8-year period. Data were presented by age groups (absolute number of cases from 20 to ≥80 years old) and per Region (rates per 100,000 inhabitants) for each year., Results: The overall number of new hospitalizations due to malignant Melanoma increased by 16.8% from 2001 (n = 4846) to 2008 (n = 5823), with the rate per 100,000 inhabitants passing from 10.5 to almost 12.0 at a national level. The majority of new diagnoses of malignant Melanoma was observed in two age groups: 61-70 years old (from 979 in 2001 up to 2109 in 2008, corresponding to 15.1 and 18.1 new cases per 100,000 inhabitants, respectively) and 71-80 years old (from 954 in 2001 up to 1141 in 2008, corresponding to 19.5 and 21.8 new cases per 100,000 inhabitants, respectively). The number of hospitalizations due to Melanoma increased in all age groups with the only exception of the youngest patients aged 20-30 years old. The highest increases over the 8-year period were observed in people aged ≥81 years old (+34%), 61-70 years old (+20%) and surprisingly in the age group 31-40 years old (+17%). Southern Regions showed lower hospitalization rates compared to Northern Italy and Region Lazio. The highest increases between 2001 and 2008 were observed in Trentino/Alto Adige, Friuli Venezia Giulia, Valla d'Aosta and Veneto Region., Conclusions: Hospitalizations due to malignant Melanoma in Italy seem to be influenced by environmental or population-related factors showing a decreasing incidence rate from the Northern to Southern Regions.

Type 2 diabetes mellitus (T2DM) is associated with a higher risk of fractures even in presence of normal or increased bone mineral density. The purpose of this three-year longitudinal study was to evaluate the risk of osteoporotic fractures by assessing the changes of Quantitative Ultrasound (QUS) parameters in a group of postmenopausal women with type 2 diabetes mellitus (T2DM) compared with non-diabetic controls. The measurements were taken on a group of 18 postmenopausal women affected by T2DM and 18 healthy age-matched controls, aged 55-70 years, referring to the Osteolab laboratory at the ISBEM Research Institute (Brindisi, Italy) between 2009 and 2013. Subjects had baseline and 3-year follow-up measurements with phalangeal QUS carried out by a DBM Sonic Bone Profiler 1200 (Igea®); medical history, current drug therapies and risk factors for fractures were recorded for each patient. The analyzed phalangeal QUS parameters were Amplitude-Dependent Speed of Sound (AD-SoS), Bone Transmission Time (BTT), Fast Wave Amplitude (FWA) and Signal Dynamic (SDy). At the baseline visit we found no statistically significant difference between T2DM and non-diabetic patients when looking at phalangeal QUS parameters. At the three-year follow-up visit, a significantly higher decrease of both BTT (P<0.001) and AD-SoS (P<0.001) parameters was found in the T2DM group. On the contrary, the decrease of FWA was significantly higher in non-diabetic controls (P<0.001). Our data confirm the ability of phalangeal QUS to detect differences in the risk of osteoporotic fractures in T2DM postmenopausal women compared to non-diabetic controls. The study suggests that T2DM women present a higher cortical porosity and increased trabecular bone density compared to non-diabetic controls, respectively shown by the higher decrease of both AD-SoS and BTT and the lower decrease of FWA.

Background: Osteoporosis is a leading cause of morbidity in patients affected by β-thalassemia major or intermediate; we aimed to assess the association between demineralization observed in young thalassemic patients., Methods: A total of 88 patients with β-thalassemia were recruited at Microcitemia Center of Taranto Hospital under the Prevention Osteoporosis and Fractures research project from 2008 to 2010. All the patients were screened with both dual energy x-ray absorptiometry (DXA) and quantitative ultrasound (QUS). T score and Z score values were obtained for each subject., Results: The overall prevalence of demineralization was 84% with DXA and 70% with QUS, whereas normality was found in 16% of patients screened with DXA and in 30% of cases with QUS. Hypogonadism, hypothyroidism, diabetes mellitus, hepatitis-B, and the presence of previous fragility fractures were significantly associated with the demineralization status (lower T scores values) both with DXA and QUS., Conclusion: Our data confirm that DXA and QUS examinations are both useful for detecting bone demineralization in thalassemic patients.

Unlabelled: In order to update data underlying the Italian version of FRAX, we computed the national hip fracture incidence in Italy from hospitalization records for the year 2008. Mortality data and 10-year probabilities of major osteoporotic fractures were also updated. This revision will improve FRAX accuracy and reliability., Introduction: The original Italian version of FRAX® was based on five regional estimates of hip fracture risk undertaken up to 20 years previously. Our objective was to update hip fracture rates for the model with more recently derived data from the whole Italian population and more recent data on mortality., Methods: We analyzed the Italian national hospitalization database for the year 2008 in order to compute age- and sex-specific hip fracture incidence rates. Re-hospitalisations of the same patients within 1 year were excluded from the analysis. Hip fracture incidence rates were computed for the age range of 40-100 years, whereas the original FRAX model lacked data on the youngest and oldest age groups. In addition, we used the national mortality data for the same year 2008 to update the model. Ten-year fracture probabilities were re-calculated on the basis of the new fracture incidence rates., Results: The new hip fracture age- and sex-specific incidence rates were close to those used in the original FRAX tool, although some significant differences (not exceeding 25-30 %) were found for men aged 65-75 years and women under 55 years of age. In general, the revision resulted in decreased estimated 10-year probabilities in the younger age groups, whilst those in the older age groups were slightly increased., Conclusions: The Italian version of FRAX has been updated using the new fracture incidence rates. The impact of these revisions on FRAX is likely to increase the accuracy and reliability of FRAX in estimating 10-year fracture probabilities.

Objective: To assess the burden of total joint arthroplasties (TJAs) performed for symptomatic hip and knee osteoarthritis (OA) in the Italian population., Methods: We analyzed national hospitalizations and diagnosis-related group databases to compute incidence, annual percent change (APC), direct costs, and working days lost between 2001 and 2005 following TJA due to OA., Results: In 2005, we recorded a total of 41,816 (APC +5.4; 95% confidence interval [95% CI] 5.1-5.8) and 44,051 (APC +13.4; 95% CI 13.1-13.8) hip and knee arthroplasties, respectively. Women represented the majority of patients undergoing TJA procedures (female:male ratio 1.7:1 for hip arthroplasties and 2.9:1 for knee arthroplasties). When analyzing the data by age groups, most of the patients were in the age groups 65-74 years and ≥75 years, although the highest increases were observed in those ages <65 years. Revisions accounted for 6,387 (APC +4.9; 95% CI 4.0-5.7) and 2,295 (APC +17.4; 95% CI 15.7-19.2) procedures for the hip and knee, respectively. Loss of working days in patients ages <65 years was estimated between 805,000 and 1 million days. Hospital costs increased from 741 million to 1 billion euros over the 5-year period (from 412 to 538 million euros for hip arthroplasties and from 329 to 517 million euros for knee arthroplasties). Rehabilitation costs increased from 228 to 322 million euros. Postoperative complications were estimated between 3.1 and 4.4 million euros. The average costs per patient were 16,835 and 15,358 euros for hip and knee arthroplasties, respectively., Conclusion: The socioeconomic burden of TJAs performed for symptomatic OA in Italy is remarkable and calls for the adoption of proper preventive measures., (Copyright © 2012 by the American College of Rheumatology.)

Screening is a key tool for early cancer detection/prevention and potentially saves lives. Oral mucosal vascular aberrations and color changes have been reported in hereditary nonpolyposis colorectal cancer patients, possibly reflecting a subclinical extracellular matrix abnormality implicated in the general process of cancer development. Reasoning that physicochemical changes of a tissue should affect its optical properties, we investigated the diagnostic ability of oral mucosal color to identify patients with several types of cancer. A total of 67 patients with several histologically proven malignancies at different stages were enrolled along with a group of 60 healthy controls of comparable age and sex ratio. Oral mucosal color was measured in selected areas, and then univariate, cluster, and principal component analyses were carried out. Lower red and green and higher blue values were significantly associated with evidence of cancer (all P<0.0001), and efficiently discriminated patients from controls. The blue color coordinate showed significantly higher sensitivity and specificity (96.66±2.77 and 97.16±3.46%, respectively) compared with the red and green coordinates. Likewise, the second principal component coordinate of the red-green clusters discriminated patients from controls with 98.2% sensitivity and 95% specificity (cut-off criterion≤0.4547; P=0.0001). The scatterplots of the chrominances revealed the formation of two well separated clusters, separating cancer patients from controls with a 99.4% probability of correct classification. These findings highlight the ability of oral color to encode clinically relevant biophysical information. In the near future, this low-cost and noninvasive method may become a useful tool for early cancer detection.

Objectives: As osteoporotic fractures are becoming a major health care problem in countries characterized by an increasing number of older adults, in this study we aimed to compare the incidence and costs of hip fragility fractures in Italian elderly people versus those of major cardiovascular diseases (strokes and acute myocardial infarctions [AMI]) occurring in the whole adult population., Methods: We analyzed hospitalization records maintained at the national level by the Italian Ministry of Health for the diagnosis of hip fractures (ICD-9-CM codes 820-821), AMI (code 410), hemorrhagic (codes 430, 431, 432) and ischemic strokes (codes 433-434), and TIA (code 435) between 2001-2005. Cost analyses were based on diagnosis-related groups., Results: The incidence of hip fractures in elderly people has increased (+12.9% between 2001 and 2005), as well as that of AMI (+20.2%) and strokes (hemorrhagic: +9.6%; ischemic: +14.7) occurring in the whole adult population; conversely, hospitalization due to TIA decreased by a rate of 13.6% between 2001 and 2005. In 2005, the hospital costs across the national health care system that were associated with hip fragility fractures in the elderly were comparable to those of strokes (both hemorrhagic and ischemic), which occurred in the whole Italian adult population. Moreover, these costs were higher than those generated by AMI and TIA. Rehabilitation costs following strokes reached about 3 billion Euros in 2005, but rehabilitative costs of hip fractures and AMI were comparable (about 530 million Euros in 2005)., Conclusion: The burden of hip fragility fractures in Italy is comparable to that of AMI and strokes.

Objectives: We aimed to update the incidence rates of major fragility fractures in Italy, including those which do not result systematically in hospital admissions, on the basis of hospitalization rates provided in our previous researches., Methods: We analyzed italian national hospital discharge data from year 2002 to 2008 in order to determine age- and sex-specific incidence rates of hip, vertebral, humeral, and forearm fractures occurred in people aged 40 to 100 years of age. Re-hospitalizations of the same patients have been excluded from the analysis. Hospital discharge data have been adjusted taking into account recently published information concerning fracture-specific hospitalization rates., Results: We estimated a total of 91,494 hip fractures in year 2008 among people aged 40 to 100 years old, with a +18.1% increase across the seven-year period. Women aged >75 years old (n=55,950) accounted for about 60% of total fractures observed both in males and females. Concerning males, the highest incidence was observed between 80 and 84 years old (about 5,000 hip fractures). Overall incidence rate per 100,000 inhabitants computed for hip fractures was 283.5, with marked age- and sex-specific differences. Clinical vertebral fractures were estimated to be almost 61,000 in 2008, with a +6.3% increase over seven years. Overall incidence rate per 100,000 inhabitants computed for clinical vertebral fractures was 189.0, but this value doubled between 75 and 95 years of age. For the same year 2008, we estimated a total of 57,400 humeral and 94,000 forearm/wrist fractures, with a +13.2% and +0.7% increase over the seven-year period, respectively. Overall humeral fractures incidence per 100,000 was estimated in 178.0, with highest rates (up to 600 and over) observed in women between 75 and 95 years of age, while incidence per 100,000 for wrist fractures was computed in 298.0, with top values observed in women between aged 55 years old and over., Conclusion: The burden of major osteoporotic fractures in Italy is still increasing. Preventive strategies aimed to reduce fractures incidence should be carried out at regional level.

Objectives: We aimed to calculate the incidence of major fragility fractures in Italy, including those which do not result systematically in hospital admissions, on the basis of hospitalization rates provided in our previous researches., Methods: We analyzed Italian national hospital discharge data from year 2004 to 2006 in order to determine age- and sex-specific incidence rates of hip, vertebral, humeral, and forearm fractures occurred in people aged 40 to 100 years of age. Re-hospitalizations of the same patients have been excluded from the analysis. Hospital discharge data have been adjusted taking into account recently published information concerning fracture-specific hospitalization rates., Results: We estimated a total of 88,647 hip fractures in year 2006 among people aged 40 to 100 years old, with a +5.9% increase across the three examined years. Women aged >75 years old (n=53,259) accounted for 60% of total fractures observed both in males and females from 40 to 100 years of age. Concerning males, the highest incidence was observed between 80 and 84 years old (about 5,000 hip fractures). Overall incidence rate per 100,000 inhabitants computed for hip fractures was 284.28, with marked age- and sex-specific differences. Clinical vertebral fractures were estimated to be almost 61,000 in 2006, with a +3.1% increase across the three examined years. Overall incidence rate per 100,000 inhabitants computed for clinical vertebral fractures was 195.23, but this value doubled between 75 and 95 years of age. In the same year 2006, a total of 56,129 humeral and 97038 forearm/wrist fractures, with a +5.5% and +3.9% increase across three years, respectively. Overall humeral fractures incidence per 100,000 was 180, with highest rates (up to 600 and over) observed in women between 75 and 95 years of age, while incidence per 100,000 computed for wrist fractures was 311, with top values observed in women between aged 55-85 years old - thus including early post-menopausal age group - and a peak in those between 75 and 79 years of age., Conclusions: The burden of major osteoporotic fractures in Italy is very high. Preventive strategies aimed to reduce fractures incidence should be carried out at regional level.

Summary: A total of 507,671 people > or =65 experienced hip fractures between 2000 and 2005. In 2005, 94,471 people > or =65 were hospitalized due to hip fractures, corresponding to a 28.5% increase over 6 years. Most fractures occurred in patients > or =75 (82.9%; n = 420,890; +16% across 6 years), particularly in women (78.2%; n = 396,967)., Introduction: We aimed to analyze incidence and costs of hip fractures in Italy over the last 6 years., Methods: We analyzed the national hospitalization and DRG databases concerning fractures occurred in people > or =65 between 2000 and 2005., Results: A total of 507,671 people > or =65 experienced hip fractures across 6 years, resulting in about 120,000 deaths. In year 2005 94,471 people aged > or =65 were hospitalized due to hip fractures, corresponding to a 28.5% increase over 6 years. The majority of hip fractures occurred in patients > or =75 (82.9%; n = 420,890; +16% across 6 years) and particularly in women (78.2%; n = 396,967). Among women, 84.2% of fractures (n = 334,223; +28.0% over 6 years) were experienced by patients > or =75, which is known to be the age group with the highest prevalence of osteoporosis, accounting for 68.6% of the overall observed increase in the total number of fractures. Hip fractures in men > or =75 increased by 33.1% (up to 16,540). Hospitalization costs increased across the six examined years (+36.1%) reaching 467 million euros in 2005, while rehabilitation costs rose up to 531 million in the same year., Conclusions: Hip fractures of the elderly are increasing and represent a major health problem in industrialized countries such as Italy.

Introduction: clinical guidelines recommend to identify and treat people at high risk of fracture., Methods: we have carried out a simulation concerning pharmaco-economic issues in the treatment of severe osteoporosis and particularly those people with previous femoral fragility fractures, assuming that only 13.1% of hip fractured patients had started a proper antifracture therapy, as shown by the analysis of the Tuscany regional database., Results: Annual costs sustained by the Italian healthcare system for treating hip fractured patients all over Italy have been estimated to range from 2 560 000 in year 2000 to 3 291 750 in year 2005, representing only 0,3% of the overall costs sustained because of hip fractures in Italy., Conclusions: Sixty percent of the pharmacological costs can be considered as ineffective from a therapeutic point of view because patients were assuming their drugs only for 6 months. There is a need for specific codification of osteoporotic fragility fractures at hospital admissions and for implementing regional strategies aimed to reduce hip re-fractures by increasing the number of patients on treatment and incrementing adherence to treatment.

Life expectancy in Italy is estimated to rise to 77.9 and 84.4 years in next years. Increased life expectancy is associated with a greater frailty of elderly people and an increased prevalence of chronic and degenerative illnesses such as cardiovascular diseases and osteoporosis. The impact of osteoporotic hip fractures in Italy is very similar to that of acute myocardial infarction (AMI), and there is a need for further epidemiological investigations concerning both the pathologies, as well as for a better understanding of possible mechanisms of their cosegregation. Actually, calcium metabolism is involved both in the development of osteoporosis and in the raise of cardiovascular risk. We have reviewed the most recent publications concerning epidemiological trends of both osteoporosis and acute myocardial infarction (AMI), and also the trials addressing cosegregation of these pathologies. According to the publications examined, in the Italian population (both ≥ 45 and > 65 years old), the number of hospitalizations following hip fracture and AMI are comparable. Both hip fractures and cardiovascular diseases represent in Italy a serious medical problem and a leading health cost driver, according to what has already been reported for many other Countries in the industrialized world, thus requiring a global clinical approach. Low calcium intake could represent one of the possible pathogenic paths underlining the association between hypertension and osteoporosis. Low calcium serum levels has been proved to enhance PTH and vitamin D3 production, which result in a remarkable lypogenesis performed by adypocites and switch on mechanisms leading to the raise of blood systolic pressure, the development of atherosclerotic plaques and cardiovascular events. Although many trials have suggested that bone mineral density may be included in the list of cardiovascular risk factors, more studies are needed in order to deeply investigate the causal relationships between calcium metabolism and cardiovascular diseases.

Background: A familial predisposition to colorectal cancer (CRC) has been clearly established, consisting of familial clustering in 15-20% and clear hereditary aetiology in 5-10% of overall CRC cases. Early identification of families and individuals at high risk is essential as intensive surveillance has been demonstrated to reduce cancer incidence and overall mortality. In the present study, the value of oral mucosal light reflectance in identifying hereditary non-polyposis colorectal cancer (HNPCC) carriers was investigated., Methods: Twenty members of six different genetically unrelated HNPCC kindred and 30 genetically unrelated age and sex matched healthy controls were examined. Lower gingival and vestibular oral mucosal reflectance was measured using an imaging spectrophotometer., Results: HNPCC carriers showed significantly lower values in the 590-700 nm wavelength range (p

Background: Germline mutations in mismatch repair (MMR) genes are found in only about half of clinically diagnosed families with hereditary non-polyposis colorectal cancer syndrome (HNPCC) (or Lynch syndrome). Early identification of gene carriers is essential to reduce cancer incidence and overall mortality., Aims: Recent evidence indicates an increase in size and number of sebaceous glands following activation of the hedgehog pathway, a crucial signalling pathway for animal development that is aberrantly activated in several types of cancer. Here we sought to assess a possible association between Fordyce granules (FGs-that is, ectopic sebaceous glands on the oral mucosa) and HNPCC., Methods: A total of 15 members of five different genetically unrelated HNPCC kindreds (MLH1 gene mutation n = 8; undetectable MLH1 protein at immunochemistry n = 4; clinical diagnosis n = 3) and 630 genetically unrelated age and sex matched healthy controls were examined. Following examination of the oral mucosa surface, subjects were categorised as either FGs positive or FGs negative., Results: Evidence of FGs was significantly associated with HNPCC (13/15 (86.7%) affected patients v 6/630 (0.95%) controls; p<0.0001), with a relative risk of 91.0 (95% confidence interval 40.05-206.76). The observed difference remained significant when carriers of germline mutations in MMR genes were considered (8/15 v 6/630; p<0.0001). The most common site for the FGs in HNPCC patients was the lower gingival and vestibular oral mucosa., Conclusions: Our findings suggest that a previously unrecognised activation of the sebaceous glands system occurs in HNPCC. The observation could be of value for attending physicians in identifying affected families and/or increase the accuracy of the currently available molecular genetics screenings.

Aims: Critical congenital cardiovascular malformations (CCVMs) require surgical correction during the first month of life, physical examination is unable to detect >50% of affected infants. An oximetry screening has been previously proposed. Our aim was to verify the usefulness and consistency of a pulse oximetry screening for early detection of CCVMs in a small size nursery., Methods: A single determination of SpO2 was performed on 5292 consecutive apparently healthy newborns, discharged from nursery at a median age of 72 h during the period May 1, 2000 and November 30, 2004. Infants showing signs of congenital heart disease before the screening and those with a prenatal diagnosis were excluded. Cardiac ultrasound was performed on all infants with SpO2< or =95% at >24 h. The accuracy of the screening in identifying CCVMs was assessed by receiver-operating characteristic (ROC) curves analysis., Results: We found 2 (0.038%) true positives, 1 (0.019%) false negative, 1 (0.019%) false positive, and 5288 (99.92%) true negatives. Prevalence of critical CCVMs was 1 in 1764. Clinical follow-up showed no evidence of CCVMs in the negative cases. A pulse-oximetry cut-off value of < or =95% showed 66.7% sensitivity (95% CI: 11.6-94.5), 100% specificity (95% CI: 99.9-100.0), 50% positive predictive value, 100% negative predictive value and AUC of 0.833 (standard error: 0.145) (95% CI: 0.823 to 0.843) in identifying CCVMs., Conclusions: Our findings indicate that pulse oximetry is a non-invasive and specific screening tool for an early detection of CCVMs, and is easily applicable to a small size nursery.

Background/aims: Epidemiological studies in humans link adult disease to abnormal growth in utero. In addition to general malnutrition of the foetus, preferential blood flow to the brain and heart may furthermore deprive organs such as the liver, spleen and kidneys of oxygen and macro- and micronutrients. As a consequence, these organs may not develop normally, which predisposes the individual to the so-called metabolic syndrome (syndrome X) in later life. The effects of foetal undernutrition on the growth of some abdominal organs were investigated by comparing the volume of the kidneys, spleen and liver in small-for-gestational-age (SGA) newborn infants with that in appropriate-for-gestational-age (AGA) newborn infants., Methods: In 25 randomly selected AGA infants and 25 SGA infants, who were subdivided into three gestational age groups (<30, 30-36 and 37-40 wk) the volumes of the liver, kidneys and spleen were determined by ultrasonography. Organ volumes were estimated using the standard ellipsoid formula (longitudinal x anteroposterior x transverse diameter x pi/6). Liver/kidney, liver/spleen and kidney/spleen volume ratios were also determined., Results: The volumes of the kidneys and liver differed significantly between AGA and SGA infants in all three gestational age groups (p < 0.0018 and p < 0.029, respectively). The fact that the spleen volume differed only in the 37-40 wk group (p = 0.0002) may indicate that there is a graded relationship across the whole range of normal birthweight. The correlation between the liver volume and birthweight differed significantly between SGA and AGA infants (r = 0.56 vs 0.84, p = 0.04). On the other hand, the volume ratios between the three organs were the same in all groups (p > 0.15)., Conclusion: In intrauterine growth retarded infants, foetal growth of the liver and kidneys is more impaired than the body as a whole. Retarded foetal development of these organs may cause metabolic dysfunction, which predisposes to the group of diseases included in the so-called metabolic syndrome or syndrome X.

Objective: Down syndrome (DS) is one of the most frequent causes of mental retardation. To date, no phenotypical markers in the parents of DS offspring are known. Here, we tested the value of oral mucosal reflectance spectrophotometry in identifying unaffected parents of DS patients (free trisomy 21)., Methods: Oral mucosal reflectance spectrophotometry has been evaluated in 28 parents of DS patients and in 28 gender- and age-matched controls., Results: DS parents showed a significantly lower light reflectance in the red section of the spectrum than control subjects (610-700-nm range; P < 0.0001). No significant differences between DS mothers and DS fathers were observed (P >/= 0.85)., Conclusion: These findings indicate the presence of a previously unrecognized mucosal reflectance abnormality of the oral mucosa of unaffected parents of DS patients, thus offering a new noninvasive phenotypical marker for this condition. Our observation suggests a new tool for screening subjects at high risk for DS offspring., (Copyright (c) 2004 John Wiley & Sons, Ltd.)