Hypospadias: incidence and effects on psychosexual development as evaluated with the Minnesota Multiphasic Personality Inventory test in a sample of 11,649 young Italian men

PURPOSE: We evaluated the incidence of hypospadias and its effects on psychosexual development in a sample of 11,649 young Italian males. Over the last 30 years only about 30 major publications have addressed these issues and the results of many studies have been contrasting. Some defects in methodology, such as low response rates, heterogeneity of age ranges and the choice of controls, have been the main limitations. Our study was designed to take these problems into account. MATERIALS AND METHODS: Forty-two hypospadic subjects and a random sample of 500 nonaffected males selected from the large sample of 11,649 young men (>90% of the 18-year-old males living in the Italian region of Tuscany) were screened by the Minnesota Multiphasic Personality Inventory (MMPI) test, psychological interview and clinical evaluation. RESULTS: The incidence of hypospadias in this representative group of Italian men is 3.6/1,000. No difference was noted in the percentage with altered MMPI compared with the control group. The age at surgical corrections and the number of operations are not related to an abnormal global psychological adjustment. Severity of disease influences a more negative genital appraisal and the number of operations is correlated only with more difficulty in initiating contact with the opposite sex. CONCLUSIONS: Surgery for hypospadias has to be strongly pursued in as many cases as possible. In addition, we strongly recommend following up all hypospadics, independently of the severity of their genital malformations, through adolescence to early adulthood, to ensure early detection of subjects with impaired psychological profiles.     

Symptomatic nonparasitic hepatic cysts: options for and results of surgical management

BACKGROUND: Management options for symptomatic nonparasitic hepatic cysts (SNHC) lack verification through comparative studies with respect to safety and long-term effectiveness. HYPOTHESIS: Open cystectomy is the treatment of choice for patients with SNHC. SETTING: University hospital department of surgery. PATIENTS: Data were retrospectively analyzed from the clinical charts of 34 patients (26 women and 8 men) undergoing surgery for SNHC from January 1, 1975, through January 1, 1999. Charts were obtained from the original hospital referral. MAIN OUTCOME MEASURES: Morbidity rates and long-term recurrence. We considered the following variables for analysis: age, sex, hepatic cyst location, diameter of the cyst at primary surgery, symptoms, surgical procedure, postoperative morbidity and mortality, length of postoperative hospital stay, and long-term outcome. RESULTS: The 34 patients underwent 47 operations for SNHC (mean diameter, 15.0 cm), with a mean follow-up of 50.0 months. Ten patients underwent open and 8, laparoscopic deroofing of the cyst. Enucleation of the cyst and hepatic resections were performed as primary procedures in 4 and 2 patients, respectively, and as secondary procedures in 6 and 7 patients, respectively. Two recurrences (25%) were found after laparoscopic deroofing and 3 (30%) after open deroofing. Two (50%) and 6 (100%) recurrences were found after cystojejunostomy and needle aspiration, respectively. No symptomatic recurrences occurred after 10 cystectomies and 9 hepatectomies. One operative death (3%) occurred; however, morbidity rates were 18% (6/34) and 15% (2/13) after primary and secondary surgery, respectively. CONCLUSIONS: These results support our policy of performing open radical procedures in the treatment of SNHC; cystectomy is performed for primary surgery and hepatic resections for recurrences and complications. Conservative procedures have shown higher rates of recurrence and the need for further surgery. Only further technological improvements will allow a systematic and safe use of laparoscopy for radical surgery for SNHC.     

Nutritional characteristics of a rural Southern Italy population: the Ventimiglia di Sicilia Project

OBJECTIVE: Knowledge of alimentary habits among populations permits a better definition of appropriate public health interventions. We designed the epidemiological project "Ventimiglia di Sicilia" to characterize the risk profile in a rural village with low total cholesterol levels and low early cardiovascular mortality but with a large prevalence of overweight and obesity, which previously have been significantly associated with total mortality. METHODS: 488 individuals of age 20 to 69 years were included in the dietary survey conducted by a seven-day food record. RESULTS: Alimentary habits were characterized by high consumption of total and complex carbohydrates (respectively 52.5 +/- 7.6% and 46.6 +/- 8.2% of daily energy) and by a low cholesterol intake (92.5 +/- 35.0 mg/1000 kcal/day). Fat intake was 34.7 +/- 7.7% of daily energy due to a higher consumption of monounsaturated fats in respect to saturated fats (respectively 20.5 +/- 5.1% and 10.2 +/- 2.9% of daily energy). In particular, in this population there was a large consumption of bread, pasta, fresh vegetables, olive oil and fruits. We also observed an excess of total calories (about 2900 kcal/day in men and 2100 kcal/day in women) not balanced by a high degree of physical activity levels. Furthermore we found a significant higher total and saturated fat consumption in the youngest individuals and in people with higher educational levels. CONCLUSIONS: Dietary habits of Ventimiglia di Sicilia still follow the nutritional characteristics typical of the Mediterranean diet. The high total calorie intake indicates a quantitative more than qualitative problem, which may account the large prevalence of overweight and obesity and may represent a public health issue that needs to be corrected in such a rural population.     

Gynecologic oncologic surgery in the elderly: A retrospective analysis of 213 patients

OBJECTIVES: The aims of the study were (1) to analyze morbidity and mortality for elderly women (>/=70 years) operated on for gynecological malignancies at our department between 1985 and 1996; and (2) to compare two periods of time (years 1985-1990 versus years 1991-1996) to investigate whether new expedience in the surgical technique as well as in the perioperative management introduced by 1991 influenced the feasibility and tolerability of surgery in elderly patients. METHODS: In a retrospective analysis, we evaluated tumor site, comorbidities, surgical features, morbidity, and mortality. By 1991, several modifications in management were introduced, including: (1) early postoperative mobilization; (2) self-donation with autologous blood transfusion; (3) intraoperative antibiotic prophylaxis; (4) the retroperitoneum was left open and drains were not used after pelvic and aortic lymphadenectomy; (5) use of coagulator forceps and hemoclips for meticolous hemostasis. RESULTS: In 213 patients, tumor site distribution was uterine corpus n = 93, ovary n = 51, vulva n = 29, cervix n = 23, breast n = 15, and vagina n = 2. There were advanced stage diseases in 47%, comorbid illnesses in 76%, and high surgical risk in 48%. Sixty-nine patients (group A) and 144 patients (group B) were treated in the first and second study periods, respectively. Overall, severe postoperative morbidity and mortality were 17 and 2.8%, respectively. Group B compared to group A showed more frequent use of major surgical procedures (P < 0.01) and lymphadenectomy (P < 0.04), lower transfusion rate (P < 0.001), reduced severe morbidity (P < 0.002), lower mortality (P = 0.3), and shorter hospital stay (P < 0.001). CONCLUSIONS: Our study suggests that surgery, including very radical procedures, is reasonably feasible and well tolerated by elderly patients. The introduction of technical and medical advances in the later years of the study resulted in a significant improvement of surgical rates.     

Left ventricular mass regression after aortic valve replacement with 17-mm St Jude Medical mechanical prostheses in isolated aortic stenosis

OBJECTIVE: The present study investigated the outcomes of aortic valve replacement with 17-mm mechanical prostheses in patients with isolated aortic stenosis. METHODS: Between January 1997 and January 2003, 35 patients (mean age, 63.4 +/- 17 years; median age, 70 years; age range, 16-84 years) underwent isolated aortic valve replacement with a 17-mm St Jude Medical Hemodynamic Plus (16 [45.7%] patients) or a St Jude Medical Regent prosthesis (19 [54.3%] patients). The paired Student t test or the paired Wilcoxon rank sum test were used to compare preoperative with follow-up echocardiographic measurements. RESULTS: Thirty-two (91.4%) patients were female, mean height was 154.4 +/- 8.3 cm, mean weight was 62.2 +/- 9.2 kg, and mean body surface area was 1.59 +/- 0.13 m 2 . The preoperative average New York Heart Association class was 2.8 +/- 0.8. The mean preoperative left ventricular mass index was 135.2 +/- 31 g/m 2 . Preoperative echocardiography showed an average gradient of 65.7 +/- 19.2 mm Hg (mean) and 103.6 +/- 30.7 mm Hg (peak) and a mean indexed effective orifice area of 0.40 +/- 0.1 cm 2 /m 2 . Echocardiographic follow-up time averaged 28.2 +/- 22.7 months (range, 13-72 months). Follow-up was 100% complete (1131.7 patient-months). Hospital mortality was 8.6% (3 patients). Actuarial 5-year survival was 94.7%. The mean postoperative New York Heart Association class was 1.13 +/- 0.34 ( P < .001), with 27 (87.1%) patients in class I and 4 patients in class II. A significant regression of the indexed left ventricular mass was found (postoperative mean value, 107.8 +/- 22.8 g/m 2 ; P < .0001), despite a mean indexed effective orifice area of 0.67 +/- 0.14 cm 2 /m 2 (median, 0.66 cm 2 /m 2 ). CONCLUSIONS: Selected patients with aortic stenosis can experience satisfactory clinical improvement and significant indexed left ventricular mass regression after aortic valve replacement with modern small-diameter bileaflet prostheses.     

Different patterns of extracellular matrix protein expression in the convexity and the concavity of the dilated aorta with bicuspid aortic valve: preliminary results

OBJECTIVE: This study aimed to assess extracellular matrix protein expression patterns at the convexity (right anterolateral wall) and the concavity of the dilated ascending aorta in patients with bicuspid aortic valve disease. METHODS: Aortic wall specimens were retrieved from the convexity and the concavity in 27 bicuspid aortic valve patients (12 with stenosis and 15 with regurgitation) and 6 heart donors (controls). Morphometry, immunohistochemistry, Western blot, and polymerase chain reaction were performed, focusing on matrix proteins involved in vascular remodeling. RESULTS: Type I and III collagens were significantly decreased in bicuspid-associated dilated aortas versus controls (P < .001), particularly at the convexity (P < .05 vs concavity). Expression of messenger RNA for collagens was lower than normal only in the regurgitant subgroup. At immunohistochemistry, proteins whose overproduction has been demonstrated in response to abnormal wall stress, such as tenascin and fibronectin, were more expressed in the convexity than in the concavity, especially in the stenosis subgroup. Tenascin, which is produced by smooth muscle cells in the synthetic phenotype, was nearly undetectable in controls. Fewer smooth muscle cells (stenosis, P = .017; regurgitation, P = .008) and more severe elastic fiber fragmentation (P = .029 and P < .001) were observed in the convexity versus the concavity. CONCLUSIONS: In bicuspid-associated aortic dilations, an asymmetric pattern of matrix protein expression was found that was consistent with the asymmetry in wall-stress distribution reported previously. Differences exist between patients with stenosis and those with regurgitation in terms of protein expression and content in the aortic wall. Further studies could clarify the relations between these findings and the pathogenesis of aortic dilatation in bicuspid aortic valve patients.     

Enhanced trigemino-cervical-spinal reflex recovery cycle in pain-free migraineurs

OBJECTIVE: To evaluate trigemino-cervical-spinal reflexes (TCSRs) in a group of migraine patients during the pain-free period. BACKGROUND: TCRSs are part of a complex nocifensive response involving the cervical and the upper limb muscles, and are modulated by supraspinal inhibitory pathways; it may, thus, be possible to use TCRSs to explore the trigeminal system in migraineurs. METHODS: A total of 43 migraine patients without aura (MWoA, 32 patients) or with typical aura (MWA, 11 patients) and 30 age- and sex-matched healthy subjects took part in the study. TCRSs were obtained by stimulating the supraorbital nerve and recorded from the semispinalis capitis muscle and the biceps brachii. The latency (L, msec), area (A, mVms) and recovery cycle of the reflexes were recorded. The effects of heterotopic painful stimulation on the neurophysiological parameters were studied by a validated cold pressor test (CPT). RESULTS: No significant changes were found between either migraine patients and controls or MWoA and MWA patients in the mean values in the L and A of TCRSs (t-test, P > .05). The recovery curve of the trigemino-cervical reflexes (TCRs) was significantly faster in migraine patients than in controls, while no differences were found in the trigemino-spinal reflexes (TSRs) (t-test, P < .01). Activation of the diffuse inhibitory controls through the CPT induced a significant reduction in the TCRs and TSRs area in both migraine patients and controls (paired t-test, P < .01), though the extent of this reduction did not differ significantly between migraineurs and controls (t-test, P > .05). COMMENTS: Our data suggest that the pain-free period in migraine patients is characterized by a hyperexcitability of the trigeminal pathways and of their anatomical and functional connections with the upper cervical cord neurons, and that this abnormal hyperexcitability does not appear to be due to a lack of a supraspinal inhibitory modulation.     

Neurology residency training in Europe: an Italian perspective

Education is the most important part of medical-science training. Assessment of training programmes and examination of trainees' skills are necessary to guarantee that trainees develop competence. Training programmes vary between and within countries. The impending integration of the medical-job market among European countries highlights the need for people training to be specialists to achieve a certain standard. Here, we review the neurological training programmes in Europe, principally those in Italy, and discuss the standardisation of the training of residents in Italy and the quality control of current residency training, or its absence, in Europe.     

Hereditary ferritinopathy: a novel mutation, its cellular pathology, and pathogenetic insights

We report a family of French Canadian and Dutch ancestry with hereditary ferritinopathy (neuroferritinopathy) and a novel mutation (C insertion at nt646-647 in exon 4) in the ferritin light chain gene, resulting in a longer than normal protein. Our failure to immunostain most of the abnormal ferritin deposits in the proband with a conformation-dependent monoclonal antibody to ferritin light chain supported a previously postulated conformational change of ferritin light chain in this disease. The posterior putamen and cerebellum were the primary pathologic loci in our proband, but asymptomatic hepatocytic intranuclear accumulations of iron and ferritin also were present. Both neurons and glia displayed highly distinctive, if not pathognomonic, swollen to vacuolated nuclei containing ferritin and iron. Hyaline deposits, again staining for both ferritin and iron, were additional morphologic features that may be unique to the ferritinopathies. The iron, at least in putamen where there was a nearly 40-fold increase, appeared to be both in the ferrous (Fe2+) and ferric (Fe3+) form; it was the most likely cause of the observed neuronal and glial apoptosis. We found morphologic evidence of both lipid peroxidation and abnormal nitration of proteins in putaminal neurons and glia, confirming the expected oxidative stress due to this excessive iron. Biochemical and immunohistochemical abnormalities in mitochondria also were demonstrated, probably due to an imbalance in iron homeostasis that had a deleterious effect on the respiratory chain.     

Testicular extramedullary myeloid cell tumor: report of a case with unique clinicopathologic features and a brief review of the literature

We report a case of testicular extramedullary myeloid cell tumor in a 37-year-old man who presented with an acute testicular hemorrhage. A pathologic examination revealed no gross tumor mass. A well-differentiated extramedullary myeloid cell tumor infiltrate was seen histologically, localized largely to the seminiferous tubules. The patient had no evidence of any past or concurrent myeloid disorders. The lack of the usual clinical features of a testicular mass and the presence of an intratubular pattern of infiltration can further compound the challenges in diagnosing this entity.