Genetic interaction analysis of VEGF-A rs3025039 and VEGFR-2 rs2071559 identifies a genetic profile at higher risk to develop nodular goiter.

CONTEXT: Nodular goiter in patients from areas of iodine deficiency is due to the growth of follicular and endothelial cells, involving different vascular-related growth factors in its pathogenesis. OBJECTIVE: The aim of our study was to examine the association of known single polymorphisms of vascular endothelial growth factor-A [VEGF-A], VEGF receptor-2 [VEGFR-2] and hypoxia-inducible factor-1α [HIF-1α] genes or their genetic interactions with the risk of nodular goiter development. PATIENTS AND METHODS: 116 normal subjects, without any thyroid disease, and 108 subjects with nodular goiter [subjects with goiter and at least one thyroid nodule of > 1 cm of maximum size and in absence of signs of autoimmunity] were selected from a homogeneous population living in a mild iodine deficiency geographic area. Analyses were performed on germline DNA obtained from blood samples and VEGF-A rs3025039, VEGFR-2 rs2071559, and HIF-1αrs11549465 SNPs were investigated by real-time PCR technique. The multifactor dimensionality reduction [MDR] methodology was applied to investigate the genetic interaction between SNPs. Hardy-Weinberg equilibrium was performed. RESULTS: None of the studied polymorphisms were individually associated with a higher risk to develop nodular goiter [P > 0.05]. The combination of the VEGF-A rs3025039 and VEGFR-2 rs2071559 polymorphisms had the highest accuracy of 0.58 [P = 0.018] and the interaction of some genotypes was significantly associated with the risk of nodular goiter development. CONCLUSIONS: Our results support a genetic interaction between the VEGF-A rs3025039 and VEGFR-2 rs2071559 polymorphisms as a predictor of the risk to develop nodular goiter in subjects coming from an area with mild iodine deficiency.

Modified Masquelet's technique with nail and allograft: A case report.

The large bone defect treatment is a challenge issue in modern orthopaedic trauma surgery. One of the most used technique is the Masquelet's technique. In this case report we used a modified Masquelet technique to fill a six centimeters bone gap in the proximal femur. A 18-year-old boy with a septic pseudoarthrosis was treated with a two stages procedure: in the first step we used a hollow antibiotic spacer and an intramedullary nail. In the second step, we used both omologous (6 cm of bone allograft) and autologous bone graft with a new intramedullary nail. Immediate partial weight bearing was allowed and after 3 months the patient started walking with complete weight bearing. A year later the fracture had healed uneventfully. The modification of the Masquelet Technique that we have made allows the patient to immediately weight bearing safely, speeding up the functional recovery. Further studies are needed to standardize this type of combined technique.

The correlation between preoperative levels of albumin and tlc and mortality in patients with femoral neck fracture.

A femoral neck fracture in an elderly patient often represents a major challenge for the orthopaedic surgeon who has to face not only the fracture, but also all the multiple issues related to age. Among others, malnutrition has been recognised as an important factor associated with severe aggravation in these patients. One-hundred-and-forty-seven patients were enrolled to investigate the use of two markers of patient nutritional status, i.e. serum albumin level and total leukocyte count (TLC), as predictors of mortality in the elderly patient suffering from proximal femur fracture. We found that low preoperative values of serum albumin and TLC proved to be directly related to worse outcomes. Therefore, these exams can be useful to identify patients with a femoral neck fracture that have higher risk of malnutrition and consequent higher mortality and that can benefit from some measures, such as albumin or protein nutritional supplement.

BRAF mutation analysis in thyroid nodules with indeterminate cytology: our experience on surgical management of patients with thyroid nodules from an area of borderline iodine deficiency.

PURPOSE: Fine-needle aspiration (FNA) with cytologic evaluation is the most reliable tool for malignancy prediction in thyroid nodules, but cytologic diagnosis remains indeterminate for 12-18 % of nodules. BRAF V600E mutation has been reported to show a high specificity for malignant thyroid nodules and the use of this marker to refine indeterminate FNA cytology results may be a useful diagnostic adjunctive tool in the pre-operative evaluation of thyroid nodules. The aim of this study was to estimate the prevalence of BRAF exon 15 mutation (V600E) and its clinical value as a diagnostic tool in a series of thyroid nodules with indeterminate cytology from an area of borderline iodine deficiency. SUBJECTS AND METHODS: One hundred and fifty-three thyroid samples obtained by FNA of thyroid nodules from 151 patients were subjected to the analysis of BRAF V600E mutation by direct sequencing. In the study 54 nodules with indeterminate cytology, 56 benign and 43 malignant thyroid nodules were included. RESULTS: V600E BRAF gene mutation was demonstrated in 19/43 malignant nodules, in 0/56 benign nodules and in only 1/54 indeterminate nodules that, after histology, turned out to be at a papillary thyroid carcinoma. CONCLUSIONS: The application of BRAF exon 15 analysis showed limitations when applied to discriminate thyroid nodules with indeterminate cytology if wild-type BRAF is found, and there is no role for avoiding diagnostic thyroid surgery.

Comparison of the POSSUM score and P-POSSUM score in patients with femoral neck fracture.

PURPOSE: The ageing of the population in developed countries has led to an increased number of patients with hip fractures all over the world. POSSUM and P-POSSUM scores predict morbidity and mortality of patients who will be undergoing a surgical treatment. The aim of this study was to evaluate accuracy of these two scores in hip-fractured patients. MATERIALS AND METHODS: Between January and December 2012, in our department 144 patients were hospitalised for femoral neck fractures according to the grade III or IV of Garden's classification treated with total hip arthroplasty or endoprosthesis. POSSUM scores and P-POSSUM scores were calculated for each patient with complete clinical data. We then calculated the observed and the expected ratio. RESULTS: 134 patients were eligible: 110 females and 24 males. The mean age for women was 79 years, and the mean age for men was 84 years. We observed 13 deaths and 66 complications. The POSSUM scores predicted 16 deaths and 60 complications, while P-POSSUM scores predicted 6 deaths. The O/E ratio for POSSUM mortality was 0.81 and for P-POSSUM was 2.17, while POSSUM morbidity was 1.1. CONCLUSION: In our study, we have shown that on the one hand, the POSSUM score predicted accurately both the mortality and morbidity in patients undergoing surgery for the femoral neck fracture, while on the other hand, the P-POSSUM score underestimated them. For this reason, we believe that the POSSUM is indeed a good audit tool, which can accurately predict both mortality and morbidity in a cohort of patients.

Genetic markers to discriminate benign and malignant thyroid nodules with undetermined cytology in an area of borderline iodine deficiency.

BACKGROUND: Fine needle aspiration (FNA) with cytologic evaluation is the most reliable tool for malignancy prediction in thyroid nodules, but cytologic diagnosis remains undetermined for 20% of nodules. AIM: We investigated the diagnostic potential of a set of 6 marker genes to distinguish benign and malignant thyroid nodules. SUBJECTS AND METHODS: The prospective study included 153 thyroid samples obtained by FNA of thyroid nodules from 151 patients (56 benign, 43 malignant, and 54 nodules with undetermined cytology). Gene expression was evaluated by quantitative realtime PCR and statistical analysis of data was performed. All samples were analyzed for V600E BRAF mutation. RESULTS: A decrease in TTF3 and HGD1 expression was observed in malignant nodules with respect to benign ones, while an increase in PLAB expression was demonstrated in these nodules. The decision model was valid for 88 of 99 cases of benign and malignant nodules, with a total of 11 false positive or negative predictions. The obtained malignant/benign phenotype prediction was also valid for 37 of 54 cases of nodules with undetermined cytology with a total of 8 false positive and 9 false negative predictions. V600E BRAF gene mutation was demonstrated in 19/43 malignant nodules, in 0/56 benign nodules, and in 1/54 undetermined nodules. CONCLUSIONS: The expression profiles of genes (TFF3, HGD1, and PLAB) allowed a good prediction for the differentiation of benign thyroid lesions and thyroid cancer starting from cells of FNA; however, this assay showed limitations when applied to discriminate thyroid nodules with undetermined cytology.

CT in acute stroke: improved detection of dense intracranial arteries by varying window parameters and performing a thin-slice helical scan.

We evaluated the possibility of improving detection of a dense intracranial artery on CT in acute stroke by narrowing window width, varying window level and performing a thin-slice helical scan for the circle of Willis, in some cases followed by postprocessing maximum-intensity projections. We carried out 32 examinations of 31 patients with a documented cerebral ischaemic attack, performing cranial CT within 6 h of the onset of symptoms. Patients with intracranial haemorrhage were excluded, as were patients who went on to thrombolytic therapy. Varying window width and centre level on standard 5 mm thick contiguous axial slices, we detected a dense proximal middle cerebral artery (MCA) in a higher proportion of patients. A 1.1 mm thick helical scan through the circle of Willis improved recognition of a dense distal horizontal segment and the temporoinsular branches of the MCA and of a dense posterior cerebral artery.

[Diagnostic accuracy of teleradiology in thoracic and abdominal diseases]. / Accuratezza diagnostica della teleradiologia nelle malattie toraciche e addominali.

For one year now, teleradiology has linked the "S. Marcello" Hospital to the Department of Radiology of "Del Ceppo." Hospital in Pistoia, 30 kilometers away. Plain films are digitized (Lumiscan 50, Philips), transmitted over a dedicated standard telephone line and displayed at 1024 x 1024 x 8 bits. To study the diagnostic accuracy of teleradiology in chest and abdominal conditions, we digitized and transmitted to the Pistoia Dept. of Radiology, a sample of 156 (96 chest and 60 abdominal) emergency examinations made in "S. Marcello" Hospital from January through November, 1995. The patients were 81 women (mean age: 69 years) and 75 men (mean age: 66 years); the age range was 17-93 years. Three radiologists independently reviewed the images in the Pistoia Dept. of Radiology on a digital workstation enabled to manipulate images. They filled in some given forms specific for chest and abdominal radiography, which were compared with the same forms filled in by the radiologist in "S. Marcello" Hospital who reviewed plain films. The differences were never clinically important; they concerned emphysema (4 false positives and 2 false negatives), congestion of the hila (2 false positives and 2 false negatives) and abnormal air in small bowel and colon (2 false positives and 2 false negatives). We believe these differences to be related to interobserver variability. The diagnostic accuracy of monitor image interpretation by the three radiologists who reviewed digitized radiographs exceeded 96% for both chest and abdominal examinations, which figure compares with literature data on high resolution workstations.

[Secondary liver lesions studied with double-helix spiral computed tomography: first experience]. / Studio delle lesioni secondarie epatiche mediante Tomografia Computerizzata volumetrica con doppia elica: prime esperienze.

The authors report their early personal experience with double-helix spiral CT (CT Twin Elscint) in the study of liver metastases. This work was aimed at optimizing the study technique and at assessing the diagnostic accuracy of this method. The high temperature developed by CT Twin and the presence of a double row of detectors permit to acquire proper length sequences (with 6.5 mm slice thickness) within a short scanning time which is easy for the patient to tolerate without breathing and moving. Two hundred and thirty patients were examined with US for focal hepatic lesions and then submitted to spiral CT: spatial and density resolution were higher with spiral CT than with US, and the former technique permitted the whole liver to be studied without any partial volume artifacts, which allowed us to confirm all the lesions depicted with US and to detect other lesions, missed at US, in 20% of patients. The choice of the proper time between contrast administration and sequence acquisition is sufficient to permit the detection of focal lesions, if the liver is studied in the portal phase. The authors stress the yield of spiral CT, especially with the double-helix technique, in studying liver metastases.

[Teleradiography for diagnosis in emergency care. A clinical experience]. / La teleradiologia nella diagnostica di pronto soccorso. Esperienza operativa.

This work was aimed at evaluating the role of teleradiology in a diagnostic emergency room. Over a 6-month period (September 1991-February 1992), 2,000 films made in the emergency room were transmitted to a resident radiologist 1 kilometer away: each examination included patient's data (sex, age, site of trauma, etc.) which were sent by the admitting physician. A teleradiology system (Lumiscan 100 AT&T and Philips) was used. Films were digitized on a 1024 x 1024 x 8-bit image matrix and then transmitted over a dedicated standard phone line to the Department of Radiology. The autograph report was sent by fax to the emergency room. Four radiologists, of varying experience, independently reviewed a sample of 179 digitized radiographs and, 30 days later, the original films on a conventional light-box. The results appear to be encouraging because no significant differences were observed in the performance of any of the radiologists. Good video/films agreement was obtained, together with high sensitivity and specificity. A good result was the relatively small number (0.4% of all examined cases) of false negatives diagnosed on faxed films relative to the actual clinical diagnosis.

[Calcaneal fractures: CT aspects]. / Le fratture del calcagno: aspetti TC.

Calcaneal fractures account for 33.3% of foot fractures and 1.5% of all fractures. They were divided by Warrick and Brenner into two main groups according to whether they modify the astragalocalcaneal joint or not. Given the anatomical complexity of the foot, conventional X-rays are not always able to correctly visualize the articular facets and therefore provide insufficient information as to the characteristics of the fracture line, the position of bone fragments, and the involvement of capsulo-ligamentous structures. The authors report their personal experience with CT in the study of 12 patients with monolateral calcaneal fractures previously diagnosed on conventional X-rays. High-resolution CT (HRCT) was employed with 3-mm contiguous sections on the axial and the coronal planes. CT was used to study the normal anatomy of the foot and to evaluate 3 patients with calcaneal fracture without impaction of the posterior facet; 9 patients with impaction into the calcaneal body were also examined with CT. In the first 3 cases, an oblique fracture line was observed crossing from craniolateral to mediocaudal and thus dividing the calcaneus into 2 large fragments: sustentaculum tali and posterior facet of the talar joint. In the extant 9 cases the impaction of the posterior facet was indicated by an interruption in lateral and/or medial calcaneal walls. In 2/9 cases bone fragments were seen in the tarsal sinus, in 4/9 the sustentacular fragment was displaced, in 2 the cuboid bone was impacted into the anterior process of the calcaneus and, finally, in 7/9 cases a lateral/medial dislocation of the calcaneal tuberosity was observed. On the basis of these results, CT proved to be of greater value than conventional X-rays in the imaging of calcaneal fractures and to have a fundamental role every time an accurate evaluation of the region is needed to plan treatment.