40 Mb duplication in chromosome band 5p13.1p15.33 with 800 kb terminal deletion in a foetus with mild phenotypic features.

Large duplication of the short arm of chromosome 5 is a rare condition normally associated to severe phenotype anomalies including heart and brain malformations. We report a prenatal case of a large 5p duplication with sub-telomeric deletion in a foetus with very mild phenotypic abnormalities. Foetal ultrasonographic examination at 22 weeks of gestation showed short femur, clubfeet, pielectasy, and facial dysmorphisms. Chromosome investigations revealed an inverted duplication of the short arm of chromosome 5 from 5p13.1 to 5p15.33 and a 800 kb deletion at 5pter. The absence of severe anomalies such as cardiac and cerebral defects, observed so far in all large 5p duplications, and the comparison to previous cases described both in literature and in DECIPHER database suggest that the critical region for the severe phenotype in 5p duplication syndrome might be smaller than that previously described, excluding half of the 5p13 band. This might help in prenatal genetic counselling.

Ablation of large HCCs using a new saline-enhanced expandable radiofrequency device().

PURPOSE: Evaluation of a new device designed to achieve large volumes of necrosis in hepatocellular carcinoma (HCC) nodules by application of radiofrequency ablation (RFA). MATERIALS AND METHODS: 29 consecutive patients with 31 HCC nodules ≥3 cm in diameter (range 3-7.5 cm; mean diameter 5.5 cm) underwent ultrasound (US) guided percutaneous RFA using an expandable electrode with 7 active arrays and saline injection designed to create tissue ablation in areas of up to 7 cm (Starburst XLi-enhanced RFA device). Treatment was performed in general anesthesia (6 patients) or deep sedation (23 patients). Treatment efficacy was assessed by three-phase contrast-enhanced computed tomography (CT) and bimonthly US follow-up. RESULTS: One to three electrode insertions (mean number 1.6) were performed in each patient. CT showed complete necrosis in 23/31 HCC nodules (74%) in 22 patients. Follow-up of these 22 patients ranged from 2 to 15 months (mean time 8.3 months). In 6/22 patients (28%) intrahepatic recurrence occurred within 5-10 months (mean time 8.3 months). Major complications were post-ablation syndrome in 7/29 (24%), peritoneal effusion in 4/29 (14%), pleural effusion in 2/29 (7%) and transient obstructive jaundice in 1/29 (3.4%) patients. One patient died 6 months after treatment because of tumor progression. CONCLUSIONS: In the treatment of large HCC nodules, Starburst XLi-enhanced is an effective and safe device.

Vascular endothelial growth factor monitoring in advanced hepatocellular carcinoma patients treated with radiofrequency ablation plus octreotide: a single center experience.

Local therapies such as radiofrequency ablation (RFA) represent a valuable choice in limited hepatocellular carcinoma (HCC) and are increasingly used also in advanced tumors. Medical treatments generally gave frustrating results in advanced HCC especially if comorbidities exist. Several biologic non-chemotherapeutic drugs are currently tested in HCC and, among them, octreotide was evaluated in single series of HCC patients reporting conflicting results. We have treated a series of 35 patients affected by advanced HCC (26 M and 9 F; age range: 55-85 years, median: 73 years) with RFA followed by octreotide to primarily evaluate the safety of combined treatment and to give preliminary evaluation on its activity. We have also evaluated serum VEGF changes during the study. Child A and Child B represented 60% and about 34% of the cases, respectively. Only two patients with Child C compensated cirrhosis were included in this study. All patients have multiple liver HCC nodules and one had bone metastases. Two complete responses, 3 partial responses and 23 disease stabilization for at least three months were obtained (overall response rate, 14,2%; clinical benefit, 80%). Mean overall survival was 31.4 months. The combined treatment was well tolerated. Statistically significant correlation was found between serum VEGF and tumor progression. In conclusion, the combination of RFA and octreotide was active in advanced HCC, however, confirmation in a larger series is required.

[Personal experience with computerized tomography of shock and death in emergency situations]. / Esperienza personale su segni di shock e di morte con Tomografia Computerizzata nelle urgenze.

PURPOSE: The wide availability of CT machines in hospitals specialising in emergency care has made it possible to observe CT features of severe shock and death of the patient during the CT examination. Unique radiological signs can be evaluated that testify to the state of shock or indicate arrest of the contrast medium in the cardiovascular system and parenchymatous organs, with different hemodynamic features from those found in living persons. This paper aims to report our personal experience with the role of CT in documenting states of shock or death. Our series, which is relatively large considering the infrequency of cases, seems to be of interest as it is one of the few to describe these rare CT findings, which have ethical implications for all healthcare providers and the field of diagnostic imaging. MATERIAL AND METHODS: In the last 5 years we have observed 16 cases (12 males and 4 females; mean age 41 years; range 17-79) of death during CT examinations. Of these, 9 were severely polytraumatized patients, 2 had ruptured aneurysms of the abdominal aorta, and one had a cardiac arrest due to cardiac infarction. Death occurred in 3 patients with head trauma, in whom the CT examination had shown signs of inoperability. RESULTS: The most frequent CT signs of death observed in the patients who died of polytrauma were contusive-hemorrhagic foci in the lung associated with pneumomediastinum and hemothorax (9 cases), diffuse subcutaneous emphysema of the chest wall and pneumothorax (8 cases). CT revealed bilateral costal fractures and areas of pulmonary subatelectasia in 8 cases, and rupture of the diaphragm in one. Multiple lacerations of the liver and spleen with marked hemoperitoneum, incompatible with survival, were observed in 3 cases. Vertebral traumatic alterations were present in 2 cases. In 5 cases, the last CT scans of the heart and hepatic cupula revealed massive enhancement of contrast medium within the heart and great vessels due to contrast-medium hypostasis. The diaphragm was hypotonic, an indirect sign of death, with the left hemicardium and hemidiaphragm in a lower position than found in living persons; the abdominal aorta had a reduced caliber. DISCUSSION AND CONCLUSIONS: Such CT findings will probably become increasingly frequent in the future, because the need to avoid exploratory laparotomies or thoracotomies and unnecessary neurosurgical procedures will entail a greater demand for highly selective diagnostic examinations to be carried out on critical patients. This tendency is matched by the technological advances in diagnostic imaging, and particularly the availability of fast CT and spiral CT machines that give, in only a few seconds, an accurate diagnostic and clinical picture, on which immediate therapeutic decisions can be made.

[The radiological diagnostic and clinical approach to the patient with stab and cut wounds of the chest. The authors' personal experience]. / Approccio diagnostico radiologico e clinico al paziente con ferite da punta e da taglio del torace. Esperienza personale.

PURPOSE: To report our personal experience with the clinical and radiological diagnostic approach to stab and cut wounds of the thoracic cage and its content, a type of injury whose diagnosis and treatment, as well as the surgical approach, vary case by case. CT of deep penetrating wounds permits correct assessment of severe changes such as pneumothorax, hemothorax and pneumomediastinum. MATERIAL AND METHODS: In the last three years we examined 57 patients (48 men and 9 women; mean age 34 years, range 16-54): chest radiography was performed in 51 of them, with orthogonal projections in the standing and sitting positions. Chest CT was performed in emergency with i.v. contrast agent injection, with scans from the midneck to the diaphragm insertion to study border regions. Thoracostomy with pleural drainage was performed in 35 patients with pneumothorax and hemothorax while thoracotomy was performed in 8 patients, namely 4 with injury to the diaphragm, 2 to the heart, 1 with tear of the main bronchial artery and 1 of the aortic arch. RESULTS: The most frequent symptoms we found were chest pain (100% of cases) and dyspnea (84%); laboratory data showed anemia and decreased hematocrit levels in 28 cases. Chest radiography was negative in 14 cases. The patients were then examined with CT to exclude radiographic underestimation of minimal pneumothorax, small lacerocontusive or hemorrhagic foci and hemothorax, which were observed in 4, 2 and one cases, respectively, and where radiography was actually negative for traumatic changes. Chest radiography was positive in 43 cases: the most frequent finding was pneumothorax, with 37 cases (86%)--8 of them associated with hemothorax and 5 with pneumomediastinum. Lacero-hemorrhagic foci of lung parenchyma were found in 5 cases and single pulmonary hematoma from punch crossing was seen in 1 case. DISCUSSION AND CONCLUSIONS: CT was an accurate tool and had higher sensitivity than chest radiography in detecting and detailing pneumothorax, pneumomediastinum and lacero-hemorrhagic foci, as well as in quantifying hemothorax. Chest radiography had 12% false negatives and therefore we decided to perform CT in all the patients with penetrating wounds to prevent radiographic underestimation. Given the low rate of false negatives (7/57 cases) CT might appear superfluous but since in 2 of these 7 cases we had massive pneumothorax and pneumomediastinum associated with neck emphysema we suggest its use to prevent complications, clinical failures and medicolegal problems. CT permits correct assessment of penetrating stab and cut wounds of the chest and efficient and targeted treatment, which can be conservative, with thoracostomy with pleural drainage, or surgical.

[Craniocerebral trauma from bullets: the correlation between computed tomography, the clinical picture, neurosurgical treatment and the long-term sequelae]. / Traumi cranio-encefalici da proiettile: correlazione tra Tomografia Computerizzata, clinica, trattamento neurochirurgico e sequele a distanza.

PURPOSE: To demonstrate the usefulness of CT findings in the planning of brain neurosurgery in gunshot victims, for prompt and successful treatment. MATERIAL AND METHODS: Thirty patients with brain gunshot wounds were examined with CT over 5 years. The patients were 27 men and 3 women whose mean age was 33 years (range: 17-56). Brain CT was carried out with thin (5-mm) slices and 10-mm gap; dynamic scanning (3-mm interscan time) was used especially in case of posterior fossa involvement and diffuse brain damage. The examination was integrated with cervical scout views to detect bullets in the neck and cervical dislocation. CT follow-up was carried out in 20 patients 24 hours postoperatively and every 6 hours in 9 patients in a severe postoperative coma. RESULTS: Twelve intracranial hematomas and 9 subdural hematomas, 3 of them bilateral, were treated and hemorrhage was resolved in 8 lacerocontusive foci. Skull plastic surgery was carried out in 5 cases. Surgical maneuvers were most difficult in the 5 crash bone injuries with wedged splinters; postoperative subarachnoid hemorrhage followed in 3 cases. Blood effusion in ventricles was drained in 6 cases; in 2 of them with permanent catheters. Eleven patients died: 4 right after surgery and 7 an average 15 days postoperatively. DISCUSSION AND CONCLUSIONS: In our series the mortality rate of firearm wounds of the skull base was 34% higher than that of the hemisphere; this is due to carotid hemorrhage and midbrain damage. Such traumas require emergency radiological diagnosis and neurosurgical treatment because of their severity and early irreversible complications. Complex operations and skilled surgeons may prevent disabling postoperative sequels. CT findings are indispensable and must be correctly interpreted. The radiologist and the neurosurgeon must collaborate closely and both must consider several diagnostic and prognostic factors affecting surgical planning.

[Gunshot wounds of the cranium studied with computerized tomography. Personal experience in 23 cases]. / Ferite da arma da fuoco del cranio osservate con Tomografia Computerizzata. Esperienza personale in 23 casi.

INTRODUCTION: Gunshot wounds to the head are usually mortal injuries. Their frequency has been increasing in the last years because of increasing crime rates. Gunshot wounds to the head require close clinical and diagnostic cooperation of the neurosurgeon and radiologist, detailed assessment of skull and brain damage, and finally prompt treatment. Emergency Computed Tomography (CT) makes a useful tool for depicting bullet course and brain damage, and thus helps plan treatment. We investigated the CT signs of subdural hematoma, lacerocontusive focus, subarachnoid hemorrhage, hemoencephalus, skull bone fracture and thecal hollow and report them as an aid to the neurosurgeon and the radiologist, for best treatment planning, and in an attempt to establish useful prognostic criteria. MATERIAL AND METHODS: We retrospectively reviewed 23 cases of gunshot injuries to the head studied with CT at the Emergency Unit of Loreto Mare Hospital in Naples, Italy. Twenty patients were men and 3 women; their mean age was 31 years (range: 18-49). Three women and 2 men had been injured accidentally by wandering bullets, and one case was an attempted suicide; all the other cases resulted from shootings. CT slices were 10 mm thick, with 8 mm gap (5 mm in complex injuries and when posterior cranial fossa was involved); all scans were unenhanced. RESULTS: We found 22 penetrating gunshot wounds: 13 of them with thecal entry hole and intracranial bullet retention and 9 with an entry and an exit hole. One case was a superficial wound. Crash skull fractures were seen in 22 cases and they were fragmented in 12, with overlapping thecal fragments in 4, and with deep fragments in 2 cases. There were scattered bone splinters in 3 cases and the bullet was retained in the mastoid bone in one case. Lacerocontusive foci were assessed in 22 cases, brain swelling in 20, subarachnoid hemorrhage in 19, brain hematoma in 15, blood in the ventricular system in 9, pneumoencephalus in 7, air bubbles along the bullet course in 7, impression on ventricula and linear structures in 7, interhemispheric blood in 5, and finally blood effusion in Sylvian scissure in 4 cases. DISCUSSION AND CONCLUSIONS: Gunshot wounds to the head are complex and severe traumas with high mortality rates because of both early and late effects and complications. CT provides the neurosurgeon with abundant findings for diagnosis and surgical planning, which may result in improved survival rates. In these patients emergency CT plays a fundamental diagnostic role in depicting brain damage and thus remains the method of choice for thorough, rapid and accurate brain and skull studies, as well as to detect possible injury to the chest and abdomen.

[CT findings in fire arm injuries of the pelvis. Personal experience]. / Segni con Tomografia Computerizzata nel coinvolgimento della pelvi nelle ferite da arma da fuoco. Esperienza personale.

PURPOSE: We investigated the yield of CT in firearms wounds with pelvis involvement by evaluating the CT features of pelvis, bone walls, and associated injuries, if any. CT plays a major role, while conventional radiography remains an important integration in the workup of pelvis bone injuries. MATERIAL AND METHODS: We report a retrospective series of pelvis gunshot wounds studied with CT in a 5-year period; the patients were all men, with a mean age of 38 years (range 18-56). When only the pelvis was involved, CT was performed from the transverse umbilical plane to the pubis, in order to include the continuous abdomen. We used an intravenous contrast agent to study the aorta and its iliac branches, pelvic vessels, active hemorrhagic effusions and bladder filling. RESULTS: Penetrating firearms wounds were found in 21 cases and perforating ones in 7. In the penetrating wounds, the bullet course was most frequently (75%) stopped by the pelvic bones, with retention and CT visualization within muscular and bone structures. The incidence of bone injuries, especially crash wounds, was high, with 18 cases (64%). In both types of wounds with anterior course, we demonstrated bladder perforation in 2 cases, vascular damage in 2 and perforation of intestinal loops in 6. DISCUSSION AND CONCLUSION: Paradoxically, pelvic bone fractures may be "protective" for the pelvic content; however the involvement of large arteries and veins and multiple perforations of intestinal loops are no less dangerous than the upper abdominal wounds. CT is an important diagnostic tool that permits accurate and prompt evaluation of pelvic organs such as intestine, bladder and bone structures. Thus, CT permits prompt assessment of pelvic structures involvement by firearms wounds, which provides the clinician with useful imaging findings of bullet damage.

[Radiologic investigation of external rectal prolapse. Assessment in 48 patients with defecography, seven of them also with dynamic CT of the pelvis]. / Studio radiologico del prolasso rettale esterno. Valutazione di 48 pazienti mediante defecografia, di cui 7 esaminati con Tomografia Computerizzata dinamica della pelvi.

PURPOSE: To report our personal experience in 48 patients with external rectal prolapse examined with defecography, evaluating radiological signs and the indications for surgical treatment. We also report the results of 7 patients with severe prolapse submitted to dynamic CT of pelvis. MATERIAL AND METHODS: The findings relative to 48 patients suffering from external prolapse, 27 women and 21 men, (mean age 58 years), were retrospectively reviewed. In our study protocol the patient is made to sit on a defecographic commode with the pelvis in lateral projection and radiographic images are acquired at rest, on contraction and on evacuation. Dynamic CT of pelvis with axial and coronal scans of the pelvic floor was carried out in 7 patients with severe prolapses. Twenty-six of 48 patients underwent rectopexy. RESULTS: The main symptoms were anorectal and perineal weight sensation (93%), perineal disturbance in the sitting position (91%) and anorectal pain extended to sacral area (83%). Manometry, which was performed in 36 cases, showed a rectoanal inhibitory reflex evokable at high volumes of air, especially in incontinent subjects. Defecography demonstrated external rectal prolapse in all cases; rectal intussusception in 32, mucosal prolapse in 30, abnormal widening of the anorectal angle in 24 (16 of them were incontinent), rectocele in 22 and perineal descent syndrome in 16 cases. DISCUSSION AND CONCLUSIONS: External rectal prolapse is sometimes a dynamic progression of a rectal intussusception. In anorectal intussusceptions, the invaginatum involves the anal canal, thus causing the external prolapse. Defecography clearly shows the continuation of invagination out of the anus, with the formation of prolapse. Dynamic CT proved accurate in detecting the rectum morphology, but added no further information to defecography, except for the diastasis of anosphincterial muscles. Therefore, we conclude that defecography is the method of choice, though complementary to other instrumental techniques such as manometry, electromyography and endoscopy, in the diagnostic workup of these patients. Moreover, it can recognize other alterations, such as incontinence and rectocele, which can be submitted to surgical correction with rectopexy.

[Liver trauma due to penetrating lesions: miscellanea, personal case series, clinical and CT findings]. / Traumi epatici da lesioni penetranti. Miscellanea, casistica personale, aspetti clinici e con Tomografia Computerizzata.

PURPOSE: Penetrating liver wounds are related to many causes and rank second after blunt abdominal and liver trauma. We will report the clinical and radiological findings of our personal series of patients with penetrating trauma, especially by firearms and stab and cut wounds. We will also try to define the diagnostic workup of these traumas, which is especially based on CT signs of liver damage and associated changes and which is of basic importance for following treatment, both surgical or conservative. MATERIAL AND METHODS: In the last seven years we retrospectively reviewed 31 cases of penetrating liver trauma. The patients were 19 men and 12 women, ranging in age 18 to 73 (mean 42), with penetrating liver injuries from firearms (16 patients) and stab (9 cases) wounds; 6 patients had injuries from different causes. Abdominal CT was carried out in emergency with the CT Angiography (CTA) technique in all patients. In the patients with suspected chest and abdomen involvement CT was performed from the mid-chest for accurate assessment of diaphragm and lung bases and to exclude associated pleuropulmonary damage. RESULTS: Penetrating liver wounds were caused by firearms in 70% of cases, by stabbing in 12% and, in the extant 18%, by other causes such as home accidents, road and work traumas, and liver biopsy. In our series, the liver was most frequently involved, especially by firearms wounds; in our 16 cases the most frequent injuries were hemorrhagic tears. We found bullets in the liver in 6 cases. In one case of home accident the patient wounded himself while slicing bread with a long knife, which cut into the anterior abdominal wall and tore the anterior liver capsule, as seen at CTA. DISCUSSION AND CONCLUSIONS: Penetrating wounds to liver and abdomen are less frequent than those to the chest. In the past decade the use of CT has changed the diagnostic and therapeutic approach to such injuries completely, decreasing the resort to explorative laparotomy and hepatorrhaphy. Indeed, CT provides a clear picture of the extent and severity of damage, which permits to choose a conservative treatment in case of intraparenchymal hematomas and lacerocontusive foci without hemoperitoneum, which can be followed-up with physical and CT examinations. Moreover, Helical CT could provide the early diagnosis of active bleeding in the peritoneum and of focal bleeding in the liver, thus permitting prompt hepatorrhaphy or targeted hepatectomy. A diaphragm injury suspected at CT should always prompt the surgeon to intervention, especially when hemothorax, lung base pneumothorax, large liver hematoma or tear of the liver dome are associated. Finally, subdiaphragmatic free gas indicates gut perforation associated with liver damage, in which case surgery is necessary too.

[The topicality and use of the radiological exam in gunshot wounds of the limbs. An assessment of 132 cases]. / Attualità e impiego dell'esame radiologico nelle ferite da arma da fuoco degli arti. Valutazione di 132 casi.

INTRODUCTION: Gunshot wounds of limbs are frequent injuries especially in Western countries. They can be single or associated with other penetrating gunshot wounds, for instance to the chest, abdomen and skull. PURPOSE: We investigated the current role and usefulness of conventional radiography in the assessment of gunshot injuries to limbs because, despite major advances in diagnostic imaging, this method remains the examination of choice in this condition. We stress the valuable contribution of conventional radiography to detection of bone blow-out fractures, multifocal traumatic bone changes, bone and joint injuries, bullet retention, and finally subcutaneous emphysema. MATERIAL AND METHODS: We retrospectively reviewed 132 cases of firearm injuries of limbs submitted to radiography March 1996 to July 1999. All the patients were men ranging in age 17-66 years (mean: 35). Radiography followed a preliminary physical examination, and follow-ups were carried out in the following days after orthopedic reduction of bone fractures or surgery with metal osteosynthesis. Emergency CT was performed first when chest, abdomen, or skull were involved. RESULTS: The lower limbs were involved three times as much as the upper ones; the leg was most frequently involved (61%), followed by thigh (61%), forearm and hands (24%), and feet (15%). The right lower limb was wounded in 65% of cases, especially tibia (55 cases) and femur (46 cases). Spiral injuries to bone diaphysis were the most frequent ones, followed by mixed fractures caused by cortical bone sinking from bullet impact. Bullets were retained in 60% of cases; subcutaneous emphysema was found in 78% of cases and vascular injuries in 25 cases in relation to disarranged fractures. We observed 4 arteriovenous fistulas during 3 years' follow-up. DISCUSSION AND CONCLUSIONS: Gunshot wounds to the limbs need a different clinical, diagnostic and therapeutic approach than thoracoabdominal and skull injuries, which require immediate and quick diagnosis and emergency treatment. The cases with injury to a primary artery from open and splintered fractures require emergency surgical reconstruction with vascular anastomosis and reduction of compound fractures, to prevent necrosis and amputation. Conventional radiography does depict the bullet and its site, subcutaneous emphysema, blow-out fractures, and the location of bone splinters. This permits adequate emergency surgery and an efficacious orthopedic approach, as well as selection of the cases to be submitted to clinical monitoring.

[Chronic lymphoid leukemia of the colon. Apropos of a case]. / Leucémie lymphoïde chronique du colon. A propos d'un cas.

The authors describe a rare case of chronic lymphocytic leukemia of the colon which they observed. Particular emphasis is placed upon the problem of differential diagnosis as presented by this affection.

[Diffuse gastric pseudolymphoma or reactive lymphoid hyperplasia (RLH). Apropos of a case]. / Pseudo-lymphome gastrique diffus ou hypergénèse lymphoïde réactive (R.L.H.). A propos d'une observation.

The authors report a case of superficial diffuse gastric pseudolymphoma studied by double contrast examination induced by pharmacologic agents and full filling of the stomach after compressive manoeuvres. The authors emphasize the importance of this nosologic entity and the problems of differentials diagnosis with all the stages of gastric cancer, with the peptic ulcer, with the healed ulcer, with lymphomas, with erosive gastritis, with nodular benign lesions. The stress that the certitude of diagnosis is given only by the histologic examination.