MRI Findings in Patients with Clinical Onset Consistent with Infantile Neuroaxonal Dystrophy (INAD), Literature Review, Clinical and MRI Follow-up.

Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive neurodegenerative disorder characterized by infantile onset and rapid progression of psychomotor regression and hypotonia evolving into spasticity. The neuroradiologic hallmark of the disease is represented by progressive cerebellar atrophy. Prior to the discovery of mutations in the PLA2G6 gene in family with INAD, the clinical diagnosis of the disease had been confirmed by the presence of spheroid bodies (SB) in a peripheral nerve biopsy. Various studies have found that some patients with mutations lacked SB and some without mutations had SB, indicating incomplete detection using either pathologic or molecular methods (7). This, together with the observation that the spectrum of clinical features associated with mutations in PLA2G6 is broader than previously described, has increased the usefulness of Magnetic Resonance (MR) in INAD diagnosis, particularly in the frequent occurrence of atypical cases, especially in the early stages of the disease. We retrospectively reviewed the MR studies of eight patients in whom clinical and imaging onset met the typical criteria for INAD. Their clinical and MR imaging (MRI) onset and follow-up were evaluated together with the neuroradiological findings reported in the literature in order to identify MRI features useful in differentiating INAD from other diseases with similar clinical onset and to discuss which of them are the most important, thus suggesting INAD diagnosis. Our contribution included the use of Proton Spectroscopy ((1)H-MR), diffusion weighted MR imaging (DWI) and diffusion tensor imaging (DTI) in the follow-up of seven of the eight patients. The literature reviewed included attempts to correlate clinical and MR data with the genotype in the group of patients carrying PLA2G6 mutations. From the limited and inhomogeneous cohort of patients included in our study, a correlation between the MR features, phenotype and genotype was not exhaustive.

Randomized clinical trial of robot-assisted versus laparoscopic Nissen fundoplication.

BACKGROUND: Several studies have shown the safety and feasibility of robot-assisted antireflux surgery but comparative data are lacking. METHODS: Fifty consecutive patients scheduled for laparoscopic antireflux surgery were randomized into two groups. Twenty-five patients underwent robot-assisted surgery and 25 standard laparoscopic fundoplication. All robot-assisted procedures were performed with the da Vinci Surgical System. RESULTS: There were no significant differences in age, sex, body mass or preoperative reflux pattern between the groups. Operating times were significantly longer for robot-assisted than standard laparoscopic operations (mean total operating time 131.3 versus 91.1 min, P < 0.001; skin-to-skin time 78.0 versus 63.5 min, P = 0.001). There was no conversion to open surgery. Conversion to standard laparoscopy was necessary in one of 25 robot-assisted procedures. The length of hospital stay was similar in both groups. Robot-assisted surgery was associated with significantly higher mean total costs (euro 3157 versus euro 1527; P < 0.001). There were no significant differences in clinical, endoscopic and functional outcomes between groups. There was no procedure-related mortality. CONCLUSION: Robot-assisted laparoscopic fundoplication is comparable to the standard laparoscopic procedure in terms of feasibility and outcome, but costs are higher owing to longer operating times and the use of more expensive instruments.

Laparoscopic versus open surgery for extraperitoneal rectal cancer: a prospective comparative study.

BACKGROUND: The role of laparoscopic resection (LR) in the management of extraperitoneal rectal cancer still is unclear. This study aimed to compare perioperative and long-term results of laparoscopic and open resection (OR) for low and midrectal cancer. METHODS: A prospective nonrandomized trial comparing patients submitted to OR or LR for low and midrectal cancer at a single institution was conducted. RESULTS: The study included 191 consecutive patients: 98 patients who underwent LR and 93 who underwent OR. The mean follow-up period was 46.3 months for LR and 49.7 months for OR. The conversion rate for LR was 18.4%. With the use of LR, the mean time for complete patient mobilization was shorter (1.7 vs 3.3 days; p < 0.001) and patients were earlier in passing flatus (2.6 vs 3.9 days; p < 0.001) and stools (3.8 vs 4.7 days; p < 0.01), and in resuming oral intake (3.4 vs 4.8 days; p < 0.001). The mean hospital stay was shorter for LR, but the difference did not reach significance (11.4 vs 13 days). Morbidity and mortality rates were similar: LR (24.4% and 1%) and OR (23.6% and 2.2%). Laparoscopic patients presented a higher rate of anastomotic fistulas (13.5% vs 5.1%) and reoperations (6.1% vs 3.2%) but the difference was statistically nonsignificant. Laparoscopic resection presented a significantly lower local recurrence rate (3.2% vs 12.6%; p < 0.05). The cumulative survival and disease-free rates at 5 years were, respectively, 80% and 65.4% after LR and 68.9% and 58.9% after OR (nonsignificant difference). Stage-by-stage comparison showed prolonged cumulative survival for stages III and IV cancer in LR (82.5% vs 40.5%; p = 0.006 and 15.8% vs 0%; p = 0.013, respectively) and a reduced rate of cancer-related death for stage III in LR (11.4% vs 51.9%; p = 0.001). CONCLUSIONS: As compared with conventional open surgery, LR for low and midrectal cancer is characterized by a faster recovery and similar overall morbidity (but a higher rate of anastomotic leakages), and does not present any adverse oncologic effect.

[Laparoscopic adrenalectomy in multiple endocrine tumors, in secreting and non-secreting lesions]. / La surrenalectomia laparoscopica nelle neoplasie endocrine multiple, nelle lesioni secernenti e non secernenti.

AIM: Personal experience in laparoscopic adrenalectomies (LA) for secreting and non-secreting tumors is presented. METHODS: Between March 1995 and December 2001 a total of 111 LA (58 left, 49 right and 4 bilateral) were performed in 60 females and 51 males, mean age 47.5 (range 8-81) years, for: 38 Conn diseases, 24 incidentalomas, 15 pheochromocytomas, 13 Cushing diseases, 4 kysts, 3 angiomyolipomas, 1 adreno-genital syndrome, 1 hydatidosis, 1 hyperplasia, 1 ganglioneuroma, 1 oncocyte adenoma, 1 adrenal fibrous tumor, 4 cortical carcinomas and 4 metastases (from renal carcinoma, breast carcinoma, leiomyosarcoma and rabdoid sarcoma, respectively). In all cases LA was transabdominal with a lateral flank approach. RESULTS: Mean global operative time was 88.6 minutes (range 35-240). Conversion rate was 1.8% (2/111). There was low postoperative pain. Mean hospital stay was 4.3 days (range 2-13). There were 0.9% (1/111) 30-day mortality and 4.5% (5/111) morbidity. During a mean follow-up of 41 months (range 1-81), the 67 secreting patients were disease-free. Concerning 8 malignant cases, mean follow-up was 40.5 months (range 9-72) with 3 cortical carcinomas disease-free and 1 dead for stroke, 2 metastases (1 leiomyosarcoma and 1 breast carcinoma) dead for disease and 2 disease-free. There was no port-site metastases. CONCLUSIONS: LA seems safe and effective when performed in experienced Centers on endocrine surgery and laparoscopy.

Robot-assisted vs laparoscopic adrenalectomy: a prospective randomized controlled trial.

BACKGROUND: The aim of this study was to assess the benefits and disadvantages of robot-assisted laparoscopic surgery for disorders of the adrenal gland in terms of feasibility, safety, and length of hospitalization. METHODS: Twenty consecutive patients with benign lesions of adrenal gland were randomized into two groups: Patients in the laparoscopic group underwent traditional laparoscopic adrenalectomy (LAP), whereas those in the robotic group underwent robot-assisted adrenalectomy (ROBOT) using the da Vinci robotic system. RESULTS: There was no significant difference between the groups in terms of age, sex, body mass index, and size or locations of lesions. Operative times were significant longer in the ROBOT group (total operative time, 169.2 min [range, 136-215] vs 115.3 min (range, 95-155) p < 0.001. Skin-to-skin time was 107 m (range, 77-154) vs 82.1 min (range, 55-120) (p < 0.001). There were no conversions to open surgery. However, conversion to standard laparoscopic surgery was necessary in four of 10 ROBOT patients (40%; left, one right). Perioperative morbidity was higher in the ROBOT group (20% vs 0%). There was no difference in length of hospital stay. In the following ROBOT group, hospital stay was 5.7 days (range, 4-9) vs 5.4 days (range, 4-8) in the LAP group (p = NS). The total cost of the ROBOT procedure ($3,467) was significantly higher than that for LAP ($2,737) (p < 0.01). CONCLUSION: Laparoscopic adrenalectomy is superior to robot-assisted adrenalectomy in terms of feasibility, morbidity, and cost.

Laparoscopic vs open hepatic resection: a comparative study.

BACKGROUND: Although the feasibility of minor laparoscopic liver resections (LLR) has been demonstrated, data comparing the open vs the laparoscopic approach to liver resection are lacking. METHODS: We compared 30 LLR with 30 open liver resections (OLR) in a pair-matched analysis. The indications for resection were malignant disease in 47% of the LLR and 83% of the OLR. The average size of the lesions was 42 mm for LLR and 41 mm for OLR. Five wedge resections, 12 segmentectomies, and 13 bisegmentectomies were performed in each group. RESULTS: The conversion rate for LLR was nil. The mean operative time was 148 min for LLR and 142 min for OLR. Mean blood loss was minimal in the LLR group (320 vs 479 ml; p < 0.05). Postoperative complications occurred in 6.6% of the patients in each group; there were no deaths. The mean postoperative hospital stay was shorter for LLR patients (6.4 vs 8.7 days; p < 0.05). In tumors, the resection margin was <1 cm in 43% of the LLR patients and 40% of the OLR patients ( p = NS). CONCLUSIONS: Minor LLR of the anterior segments has the same rates of mortality and morbidity as OLR. However, the laparoscopic approach reduces blood loss and postoperative hospital stay.

Does adrenal mass size really affect safety and effectiveness of laparoscopic adrenalectomy?

OBJECTIVES: To evaluate the effectiveness and safety of laparoscopic adrenalectomy with regard to adrenal mass size, as well as to consider its clinical and pathologic patterns. Laparoscopy is today considered the first-choice treatment of many adrenal diseases, although its use is still controversial for large adrenal masses and incidentally found adrenal cortical carcinoma. METHODS: A total of 125 patients underwent lateral transperitoneal laparoscopic adrenalectomy. The indications were either functioning or nonfunctioning adrenal masses, without any radiologic evidence of involvement of the surrounding structures. The correlation between the size and the operative times, estimated blood loss, incidence of intraoperative and postoperative complications, and length of hospital stay were studied with Pearson's correlation coefficient, Fisher's exact test, and the chi-square test. The analysis of variance test was used to evaluate any possible correlation between the size and clinicopathologic features and the results. RESULTS: A slight correlation was observed between the size and operative time (P = 0.004), but no correlation was observed between the size and the other parameters. Statistical analysis showed a significant correlation between the clinicopathologic patterns (nonfunctioning benign adrenal masses, Conn's adenoma, Cushing's adenoma, pheochromocytoma, adrenal cortical cancer, and other tumor metastasis) and the operative time (P = 0.011), but not with the other parameters. CONCLUSIONS: Laparoscopic adrenalectomy is also effective and safe for large lesions. The results of our series confirms that the risk of encountering an incidental adrenal cortical cancer is significantly increased for large lesions, and therefore, in these cases, additional attention is required to observe oncologic surgical principles.

Laparoscopic vertical banded gastroplasty for morbid obesity. Assessment of efficacy.

BACKGROUND: The advantages of treating morbidly obese patients via the laparoscopic approach have been demonstrated, in particular, for adjustable silicone gastric banding, but this operation is associated with a high rate of late complications. Gastric bypass and malabsorbitive procedures are feasible via the laparoscopic approach, but they entail a prolonged operating time and a consistently high morbidity rate. Laparoscopic vertical banded gastroplasty represents an effective alternative. METHODS: We performed 250 consecutive LVBG between November 1995 and February 2000. The procedure consisted of a personal technique designed to reproduce, by laparoscopy, MacLean's modification of the standard open Mason vertical-banded gastroplasty, with a calibrated transgastric window, a complete division between the staple lines, and a 5-cm-circumference polypropylene collar. RESULTS: The operative time was 95 min and the conversion rate was 0.8%. Operative mortality was nil; early and late complications, respectively, were 4.4% and 4%; the reoperation rate was 2%. Global results at 4 years were as follows: excess weight loss (EWL) 61%, success rate (excess weight <50%) 76.9%, body mass index (BMI) 29.4 kg/m2. In morbidly obese patients, the EWL at 4 years was 62.2%, with a 77.4% success rate and a 28.4 kg/m2 BMI; in superobese patients, the EWL at 4 years was 54.9% with a 50% success rate and a 35.5 kg/m2 BMI. The overall follow-up rate was 92%. CONCLUSIONS: LVBG is an effective and safe operation in morbidly obese patients, providing good weight loss with a low morbidity rate, no mortality, and minimum discomfort. However, in superobese patients, the weight loss results are disappointing; in these patients, LVBG is questionable and more complex procedures should be considered.

Transperitoneal laparoscopic adrenalectomy: experience in 72 procedures.

PURPOSE: To evaluate the safety and effectiveness of transperitoneal laparoscopic adrenalectomy for a variety of adrenal diseases. PATIENTS AND METHODS: Seventy-two patients underwent laparoscopic adrenalectomy from January 1995 until March 1999. The indications for the treatment were limited to either functioning or nonfunctioning adrenal masses without radiologic evidence of involvement of the surrounding tissues. The indication for bilateral adrenalectomy was Cushing's disease after the failure of other therapies or Cushing's syndrome secondary to ectopic ACTH secretion without the discovery of a primary neoplasm. RESULTS: Thirty-five of the adrenalectomies were performed on the left side and 33 on the right side, and 4 were performed bilaterally. The right-sided procedures required a mean operating time of 130 minutes (range 85-200 minutes), the left-sided procedures required a mean operating time of 140 minutes (range 95-200 minutes), and the bilateral procedures required a mean operating time of 240 minutes (range 210-290 minutes). A conversion from laparoscopy to laparotomy was necessary for 3 patients (4%). Intraoperative complications were reported in 6 patients (8%). Postoperative complications likewise occurred in six patients. CONCLUSIONS: These procedures proved to be safe and able to remove the majority of either functioning or nonfunctioning benign adrenal masses. Some controversy remains regarding the safety of laparoscopic adrenalectomy for large lesions and the safety of bilateral laparoscopic adrenalectomy because of bleeding risks, anesthetic risks, and long operative times. The effectiveness of laparoscopic adrenalectomy for nonfunctioning adrenal masses with histologic findings of carcinoma has not yet been proved.

Time-dependent modifications of splanchnic circulation in female pigs submitted to end-to-side portacaval anastomosis.

Fractional systemic bioavailability of orally administered drugs was found to be unexpectedly low in liver cirrhosis, even after surgical portal-systemic shunting. Fecal loss or intestinal first-pass elimination were assumed to explain the finding. In this paper we evaluated alternative pathophysiological interpretations relating low bioavailability to adaptive circulatory modifications. D-Sorbitol was used because its hepatic extraction is very high and hepatic removal follows a flow-dependent clearance regimen. D-Sorbitol bioavailability was measured at steady state in pigs submitted to end-to-side portacaval anastomosis, immediately after surgery and four weeks later. Intestinal first-pass elimination dependent on fecal loss and intraluminal degradation was excluded by administering D-sorbitol into the superior mesenteric artery. Almost complete bioavailability was observed immediately after surgery (N = 6, 0.96+/-0.08); four weeks later the bioavailability dropped (-36.8+/-18.7%; P < 0.001) while hepatic clearance significantly increased (+83.6+/-47.9%; P < 0.01). Experimental data support the hypothesis that adaptive circulatory changes spontaneously occur after some time, leading to a lower than expected portal bioavailability.

Tubaric pregnancy - an excellent idea?

Until now, the treatment in cases of tubal pregnancy has been focused on the patient and has not been concerned with saving the embryo. We consider a hypothetical operation: the transfer of the tube, the seat of developing pregnancy, with its vascularization, to the inside of the uterus cavity by an incision in the myometrium, and binding of the breach. In order to support this hypothesis, a review has been made of the literature on surgical treatments of transplantation of the ovary into the uterus at the beginning of the century.

Mutations in CYP11B1 gene converting 11beta-hydroxylase into an aldosterone-producing enzyme are not present in aldosterone-producing adenomas.

In the human adrenal cortex, cortisol and aldosterone are synthesized by the isozymes 11beta-hydroxylase and aldosterone synthase, respectively, encoded by the 93% identical CYP11B1 and CYP11B2 genes. In vitro mutagenesis of CYP11B1 complementary DNA, resulting in the replacement of CYP11B1 codons by those encoding the corresponding amino acid residues of CYP11B2 enzyme (exon 5, Ser288Gly; exon 6, Val320Ala), yields a complementary DNA encoding a mutant enzyme with an efficient aldosterone synthase activity. Identical somatic mutations in the CYP11B1 gene in vivo would produce a gene encoding an enzyme with C18 activity and that would preserve ACTH responsiveness due to the retained 5'-promoter in the mutated CYP11B1 gene. An ACTH-responsive aldosterone synthase activity of this type is commonly seen in patients with aldosterone-producing adenomas (APA). We examined the occurrence of mutations in exons 5 and 6 of the CYP11B1 gene in APA from 10 patients with primary aldosteronism. Patients were selected on preoperative evidence of a 50% or greater plasma aldosterone decrease after short term dexamethasone trial and no aldosterone response to upright posture. DNA from adenomas was amplified by PCR using two pairs of primers spanning the regions of CYP11B1 gene, i.e. exons 3-5 and exons 6-9, where mutations could be located. Targeted regions were screened for mutations by automated sequencing of PCR products. No point mutations of the CYP11B1 gene over the two regions examined were found in APA. This argues against involvement of mutations in the pathogenesis of ACTH-responsive APA.

Can examination of the cervix provide useful information for prediction of cervical incompetence and following preterm labour?

Diagnosing cervical incompetence is difficult because there are no specific tests or criteria that confirm or exclude the diagnosis, and the accurate prediction and diagnosis of preterm labour continue to frustrate the clinician. To evaluate the condition of the cervical canal, when dilatation of the internal os is identifiable by digital examination, cervical ripening has advanced considerably. Measurement of cervical length by ultrasonography offers the possibility of confirming cervical canal shortening before it is evident by digital examination. Transabdominal observations require a full urinary bladder, and the uterus is consequently deformed from the lower part to the fetal head. Measurement of cervical length by transvaginal ultrasonography has made it possible to resolve the problems associated with transabdominal observation and to assess the condition of the cervical canal in more detail. Application of transfundal pressure during transvaginal ultrasound evaluation of the cervix and its internal os may assist in detecting the asymptomatic incompetent cervix.

[Physiopathology of pneumoperitoneum]. / Fisiopatologia del pneumoperitoneo.

INTRODUCTION: Laparoscopic surgery contributes to many clinical advantages, but pneumoperitoneum in human body has new physiopathological consequences. MATERIALS AND METHODS: The aim of this study was to review recent literature about the effects of pneumoperitoneum. Cardiovascular, pulmonary and liver functions were examinated after pneumoperitoneum. RESULTS: There is a correlation between the increase in intra-abdominal pressure and properties of gas chosen (CO2 vs helium). There is a correlation between serum level modifications of liver functionality in postoperative laparoscopic surgery. CONCLUSIONS: Laparoscopic surgery has contributed to many clinical advantages (postoperative pain reduction, swift resumption, etc.), but pneumoperitoneum modifies physiological function. The aim of our next work will be the assessment of postoperative liver function, without clinical symptoms.

[Cervix incompetence]. / Incontinenza cervico-istmica.

The incontinence cervix is one of the most controversial topics in obstetrics and gynecology. The cause of cervical incontinence is due to trauma to the cervix resulting from injury during childbirth, mechanical dilation, or surgery. Dilatation of the internal cervical os is difficult to detect by digital examination in patients with a closed external cervical os. Transvaginal ultrasonographic assessment of the cervix should be adopted as the "gold standard".

[Uric acid and pre-eclampsia]. / Acido urico ed eclampsia imminente.

The cause of hypertensive disorders of pregnancy remains unknown. More than 100 clinical, biophysical and biochemical tests have been recommended to predict the development of hypertensive disorders in pregnancy. The findings of numerous studies have been inconsistent. The purpose of this review is to assess the serum uric acid currently proposed for predicting the development of preeclampsia. Hyperuricaemia (> 6 mg/100 ml) correlates with the severity of the preeclamptic lesion, as well as the poor fetal outcome.

Preoperative pneumatic dilatation represents a risk factor for laparoscopic Heller myotomy.

BACKGROUND: The development of minimally invasive surgery has renewed interest in the surgical therapy of achalasia. METHODS: 21 patients with esophageal achalasia underwent Heller's laparoscopic myotomy with anterior fundoplication between August 1991 and March 1996. RESULTS: There were two intraoperative perforations of the mucosa sutured laparoscopically with no postoperative sequelae; both complications occurred in patients previously treated with pneumatic dilatation; no perforations occurred in the 14 patients who had not been submitted to pneumatic dilatation (28% vs 0%). There were no surgical mortalities and no postoperative morbidities. Complete relief of dysphagia and modifications of radiological and manometric patterns were achieved in all patients. All patients remain asymptomatic at follow-ups ranging from 3 to 55 months after surgery. CONCLUSIONS: Laparoscopic Heller's myotomy is as effective as traditional surgery in treating symptoms and has all the advantages of pneumatic dilatation in terms of short hospital stay, quick recovery, and low cost; preoperative pneumatic dilatation is a risk factor for intraoperative mucosal perforation.

[Good rules for cervical cytologic sampling]. / Le buone regole per il prelievo citologico cervicale.

There are still many little problems concerning methods about cervical cytology sampling. Are there some risks of teaching Papanicolaou smear technique? In which day of the cycle is it better to do sampling? How long in advance is it better to avoid sexual relations, and do not use any vaginal douching? Is it better to remove in advance cervical mucus? When should the sampling be done if the colposcopy is made in the same time? How should you behave if the cervix is not exposed? How many slides have to be spreaded? Which is better, the fixation with alcohol or aerosol? Where should the sampling be repeated? Is the patient anamnesis reliable? What should it mean the presence of some parasites and some foreign bodies manifested on the slide? Different answers have been given to reply to these questions and to some others. Smear's collecting is a simple method, but it needs an exact manual skill and an adherence to some precise rules. A relevant part of the final result depends how sampling has be done. Improvements must be done in every link of chain events.

[The use of intraoperative topical bupivacaine in the control of postoperative pain following laparoscopic cholecystectomy]. / L'utilizzo della bupivacaina per via topica intraoperatoria nel controllo del dolore postoperatorio dopo colecistectomia laparoscopica.

Taking the starting point of a trial conducted on female patients who had undergone laparoscopic gynaecologic operations, which shows a good control of the postoperative pain through intraperitoneal infusion of local anaesthetic during the operation, the authors have proposed to reproduce the study on patients undergoing a laparoscopic cholecystectomy. The trial was conducted on two groups, a 50 patients each, undergoing an intraperitoneal infusion of local anaesthetic (bupivacaine) and placebo (physiologic solution) respectively. The results regarding the rate of patients who had felt postoperative pain (88% in the first group, 96% in the second group) and the different places of it, the pain in the right shoulder particularly (28% in the first group, 22% in the second), the intensity in the time and the different requests of analgesics new recorded. The results don't show statistically significant differences and they are different from the gynaecologic ones. The authors suggest, as reasons for these differences, the various moments of the liquid inoculation (at the beginning of the operation in gynaecology, at the end of it in cholecystectomy) and the Trendelemburg position of patients during the gynaecologic operation, on the contrary of cholecystectomy operations. They suggest, in the end, that the trials esecutions on numerically larger groups could bring more significant results.