Insight into epileptic and physiological déjà vu: from a multicentric cohort study.

BACKGROUND AND PURPOSE: The presence of a continuum between physiological déjà vu (DV) and epileptic DV is still not known as well as epidemiological data in the Italian population. The aim was to identify the epidemiological distribution of DV in Italy, and secondly to look for specific features of DV able to discriminate between epileptic and non-epileptic DV. METHODS: In all, 1000 individuals, 543 healthy controls (C) (313 women; age 40 ± 15 years) and 457 patients with epilepsy (E) (260 women; age 39 ± 14 years), were prospectively recruited from 10 outpatient neurological clinics throughout Italy. All populations were screened using the Italian Inventory for Déjà Vu Experiences Assessment (I-IDEA) test and E and pairwise C underwent a comprehensive epilepsy interview. RESULTS: Of E, 69% stated that they experienced 'recognition' and 13.2% reported that this feeling occurred from a few times a month to at least weekly (versus 7.7% of the control group). Furthermore, a greater percentage of E (6.8% vs. 2.2%) reported that from a few times a month to at least weekly they felt that it seemed as though everything around was not real. In E, the feeling of recognition raised fright (22.3% vs. 13.2%) and a sense of oppression (19.4% vs. 9.4%). A fifth of E felt recognition during epileptic seizures. CONCLUSION: Only E regardless of aetiology firmly answered that they had the feeling of recognition during an epileptic seizure; thus question 14 of the I-IDEA test part 2 discriminated E from C. Paranormal activity, remembering dreams and travel frequency were mostly correlated to DV in E suggesting that the visual-memory network might be involved in epileptic DV.

Management of psychogenic non-epileptic seizures: a multidisciplinary approach.

The International League against Epilepsy (ILAE) proposed a diagnostic scheme for psychogenic non-epileptic seizure (PNES). The debate on ethical aspects of the diagnostic procedures is ongoing, the treatment is not standardized and management might differ according to age group. The objective was to reach an expert and stakeholder consensus on PNES management. A board comprising adult and child neurologists, neuropsychologists, psychiatrists, pharmacologists, experts in forensic medicine and bioethics as well as patients' representatives was formed. The board chose five main topics regarding PNES: diagnosis; ethical issues; psychiatric comorbidities; psychological treatment; and pharmacological treatment. After a systematic review of the literature, the board met in a consensus conference in Catanzaro (Italy). Further consultations using a model of Delphi panel were held. The global level of evidence for all topics was low. Even though most questions were formulated separately for children/adolescents and adults, no major age-related differences emerged. The board established that the approach to PNES diagnosis should comply with ILAE recommendations. Seizure induction was considered ethical, preferring the least invasive techniques. The board recommended looking carefully for mood disturbances, personality disorders and psychic trauma in persons with PNES and considering cognitive-behavioural therapy as a first-line psychological approach and pharmacological treatment to manage comorbid conditions, namely anxiety and depression. Psychogenic non-epileptic seizure management should be multidisciplinary. High-quality long-term studies are needed to standardize PNES management.

Behavioral, socio-environmental, educational and demographic correlates of excess body weight in Italian adolescents and young adults.

BACKGROUND AND AIMS: Excess body weight (EBW) is the most prevalent nutritional disorder among adolescents worldwide. Identifying determinants of EBW may help find new intervention strategies. Behavioral, socio-economic, educational and demographic correlates of EBW were examined in a population of Italian adolescents, separately for males and females. METHODS AND RESULTS: As many as 1039 male and 2052 female students (aged 16-19 ys) attending the last three years of different types of high-school of the Emilia-Romagna region in Italy were offered participation, with 552 males and 841 females being finally evaluated. The prevalence of EBW was 21.0% in males and 14.1% in females. Step-wise multivariate logistic regression analyses were performed showing that EBW was negatively related to energy intake in males (odds ratio for 100 kcal/day (OR) = 0.94, 95% confidence interval (CI): 0.89 to 0.98; P = 0.008), and to father's educational attainment (OR = 0.70, 95% CI: 0.52 to 0.95; P = 0.020), but positively related to parental obesity (OR = 2.80, 95% CI: 1.65 to 4.76; P < 0.001). In females, EBW was positively related to parental obesity (OR = 1.94, 95% CI: 1.15 to 3.29; P = 0.013), but negatively to mother's educational attainment (OR = 0.66, 95% CI: 0.45 to 0.97; P = 0.034) and type of attended school (OR = 0.66, 95% CI: 0.49 to 0.89; P = 0.007). Mother's occupation was also an independent determinant of EBW status in females (OR = 0.39, 95% CI: 0.18 to 0.85; P = 0.018 for being unemployed vs blue-collar). CONCLUSION: Parental obesity is associated with EBW in male and female adolescents. Importantly, we found sex differences in socio-economic and educational factors impacting on EBW, supporting possible distinct area of investigation.

Value of clinical features to differentiate refractory epilepsy from mimics: a prospective longitudinal cohort study.

BACKGROUND AND PURPOSE: Misdiagnosis of refractory epilepsy (rE) is common and such patients experience a long diagnostic delay. Our aim was to identify key clinical/laboratory factors in order to obtain an alternative diagnosis in patients referred for rE. METHODS: Between January 2010 and December 2015, 125 consecutive patients with a diagnosis of rE were prospectively enrolled. All patients underwent a comprehensive neurological, neuropsychiatric and cardiological evaluation, and had an observation time of at least 1 year after the study entry. RESULTS: Diagnosis of rE was confirmed in 104/125 (83.2%) patients (55 women, mean age 38.8 ± 14.3 years). Thirteen/125 patients (10.4%, seven women, mean age 50.8 ± 20.9) were diagnosed with syncope, which was cardiac/cardio inhibitory in 9/13 (69%). The remaining 8/125 patients (6.4%, six women, mean age 41.2 ± 14.6 years) were diagnosed with psychogenic non-epileptic seizures. Age at onset had a high accuracy in differentiating patients with syncope from others, with the best cut-off age at 35 years and above. Abnormal brain magnetic resonance imaging (MRI) had a significant yield of about 70% in rE. A diagnostic model including age at onset and brain MRI was highly accurate in differentiating patients with syncope from others. In patients with cardiac/cardio inhibitory syncope, the point score of historical features was ≥1 and falsely favoured the diagnosis of epileptic seizures. CONCLUSIONS: This prospective cohort study identifies rE mimics who are at high risk of morbidity and mortality. rE starting in adulthood should raise a high suspicion of cardiac syncope. Brain MRI is accurate in differentiating rE from other conditions.

Brand-to-generic levetiracetam switching: a 4-year prospective observational real-life study.

BACKGROUND AND PURPOSE: The purpose of this study was to determine whether switching from branded levetiracetam (Keppra® ) to a levetiracetam generic equivalent product (Matever® ) in an epilepsy cohort could provide adequate results in terms of seizure control and tolerability. METHODS: To be eligible for the study, patients had to have been taking Keppra® as monotherapy or polytherapy for at least 6 months. Between March 2013 and April 2017, patients were invited to switch to Matever® as part of their follow-up. We evaluated the number of seizures per month, drug-related adverse events and electroencephalography before the switch (T0, baseline) and 6 months after switching (T1). Furthermore, we reported the long-term follow-up of patients who continued to use Matever® after the end of the study, considering the most recent visit for each patient (T2). RESULTS: A total of 55 patients refused the switch. Among the remaining 125 patients, 59 (47%) were treated using Keppra® as monotherapy and 66 (53%) were on Keppra® as polytherapy. All 125 patients were subjected to switching from Keppra® to Matever® . Comparing patients before (T0) and after (T1) switching, we found no statistically significant differences in terms of seizure frequency and occurrence of adverse effects. There were no significant differences (number of seizures/month and drug-related adverse events) between patients treated with Matever® as monotherapy and patients who refused the switch and continued to use Keppra® as monotherapy for a long-term follow-up of 48 months. Electroencephalography findings were also unchanged. CONCLUSION: In our sample, brand-to-generic levetiracetam switching was effective and safe in both monotherapy and polytherapy regardless of the epilepsy syndrome.

Randomised Italian Sonography for occiput POSition Trial Ante vacuum (R.I.S.POS.T.A.).

OBJECTIVE: To assess whether sonographic diagnosis of fetal head position before instrumental vaginal delivery can reduce the risk of failed vacuum extraction and improve delivery outcome. METHODS: Randomised Italian Sonography for occiput POSition Trial Ante vacuum (R.I.S.POS.T.A.) is a randomized controlled trial of term (37 + 0 to 41 + 6 weeks' gestation) singleton pregnancies with cephalic presentation requiring instrumental delivery by vacuum extraction, which was conducted between April 2014 and June 2017 and involved 13 Italian maternity hospitals. Patients were randomized to assessment of fetal head position before attempted instrumental delivery by either vaginal examination (VE) alone or VE plus transabdominal sonography (TAS). Primary outcome was incidence of emergency Cesarean section due to failed vacuum extraction. A sample size of 653 women per group was planned to compare the primary outcome between the two groups. The sample size estimation was based on the hypothesis that the risk of failed vacuum delivery in the VE group would be 5% and that ultrasound assessment of fetal position prior to vacuum extraction would decrease this risk to 2%. RESULTS: On interim analysis, the trial was stopped for futility. During this period, 222 women were randomized and 221 were included in the final data analysis, of whom 132 (59.7%) were randomized to evaluation of fetal head position by VE only and 89 (40.3%) to assessment by VE plus TAS prior to vacuum extraction. No significant differences were observed between the two groups with respect to incidence of emergency Cesarean section due to failed instrumental delivery and other maternal and fetal outcomes. Women randomized to assessment by VE plus TAS showed higher incidence of non-occiput anterior position of the fetal head at randomization and lower incidence of incorrect diagnosis of occiput position compared with women undergoing assessment by VE alone. A higher rate of episiotomy was noted in the women undergoing both VE and TAS compared with those in the VE-only group. CONCLUSIONS: Our prematurely discontinued randomized controlled trial did not demonstrate any benefit in terms of reduced risk of failed instrumental delivery or maternal and fetal morbidity in women undergoing sonographic assessment of fetal head position prior to vacuum extraction. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.

Morphological, ultrastructural and functional imaging of frozen/thawed and vitrified/warmed human ovarian tissue retrieved from oncological patients.

STUDY QUESTION: Which is the best method for human ovarian tissue cryopreservation: slow freezing/rapid thawing (SF/RT) or vitrification/warming (V/W)? SUMMARY ANSWER: The conventional SF/RT protocol used in this study seems to better preserve the morpho-functional status of human cryopreserved ovarian tissue than the used open carrier V/W protocol. WHAT IS KNOWN ALREADY: Cryopreservation of human ovarian tissue is generally performed using the SF/RT method. However, reduction in the follicular pool and stroma damage are often observed. An emerging alternative procedure is represented by V/W which seems to allow the maintenance of the morphological integrity of the stroma. STUDY DESIGN, SIZE, DURATION: This is a retrospective cohort study including six patients affected by oncological diseases and enrolled from January to December 2014. PARTICIPANTS/MATERIALS, SETTING, METHODS: Ovarian tissue was laparoscopically harvested from the right and left ovaries and was cryopreserved using a routinary SF/RT protocol or a V/W method, involving tissue incubation in two solutions (containing propylene glycol, ethylene glycol and sucrose at different concentrations) and vitrification in an open system. For each patient, three pieces from each ovary were collected at the time of laparoscopy (fresh tissue) and after storage (SF/RT or V/W) and processed for light microscopy (LM) and transmission electron microscopy (TEM), to assess the morphological and ultrastructural features of follicles and stroma, and for laser scanning confocal microscopy (LSCM), to determine the functional energetic/redox stroma status. The preservation status of SF/RT and V/W ovarian tissues was compared with that of fresh ones, as well as between them. MAIN RESULTS AND THE ROLE OF CHANCE: By LM and TEM, SF/RT and V/W samples showed cryodamage of small entity. Interstitial oedema and increased stromal cell vacuolization and chromatin clumping were observed in SF/RT samples; in contrast, V/W samples showed oocyte nuclei with slightly thickened chromatin and irregular shapes. The functional imaging analysis by LSCM revealed that the mitochondrial activity and intracellular reactive oxygen species levels were reduced both in SF/RT and in V/W samples compared with fresh samples. The study also showed progressive dysfunction of the mitochondrial activity going from the outer to the inner serial section of the ovarian cortex. The reduction of mitochondrial activity of V/W samples compared with fresh samples was significantly higher in the inner section than in the outer section. LIMITATIONS, REASONS FOR CAUTION: The results report the bioenergetic and oxidative status assessment of fresh and cryopreserved human ovarian tissue by LSCM, a technique recently applied to tissue samples. The use of LSCM on human ovarian tissues after SF/RT or V/W is a new application that requires validation. The procedures for mitochondrial staining with functional probes and fixing are not yet standardized. Xenografting of the cryopreserved ovarian tissue in severe combined immunodeficient mice and in vitro culture have not yet been performed. WIDER IMPLICATIONS OF THE FINDINGS: The identification of a cryopreservation method able to maintain the morpho-functional integrity of the ovarian tissue and a number of follicles comparable with those observed in fresh tissue might optimize results in clinical practice, in terms of recovery, duration of ovarian function and increased delivery outcomes after replanting. The SF/RT protocol allowed better morpho-functional tissue integrity than the V/W procedure. STUDY FUNDING/COMPETING INTERESTS: Funding was provided by Fondazione del Monte di Bologna e Ravenna, Italy. Dr N.A.M. was granted by the project ONEV MIUR PONa3 00134-n.254/R&C 18 5 2011 and the project GR-2011-02351396 (Ministry of Health, Young Researchers Grant 2011/2012). There are no competing interests. TRIAL REGISTRATION NUMBER: Clinical trial 74/2001/0 (approved:13 2 2002): 'Pilot study on cryopreservation of human ovarian tissue: morphological and immunohistochemical analysis before and after cryopreservation'.

3-T magnetic resonance imaging simultaneous automated multimodal approach improves detection of ambiguous visual hippocampal sclerosis.

BACKGROUND AND PURPOSE: To evaluate if an automatic magnetic resonance imaging (MRI) processing system may improve detection of hippocampal sclerosis (Hs) in patients with mesial temporal lobe epilepsy (MTLE). METHODS: Eighty consecutive patients with a diagnosis of MTLE and 20 age- and sex-matched controls were prospectively recruited and included in our study. The entire group had 3-T MRI visual assessment of Hs analysed by two blinded imaging epilepsy experts. Logistic regression was used to evaluate the performances of neuroradiologists and multimodal analysis. RESULTS: The multimodal automated tool gave no evidence of Hs in all 20 controls and classified the 80 MTLE patients as follows: normal MRI (54/80), left Hs (14/80), right Hs (11/80) and bilateral Hs (1/80). Of note, this multimodal automated tool was always concordant with the side of MTLE, as determined by a comprehensive electroclinical evaluation. In comparison with standard visual assessment, the multimodal automated tool resolved five ambiguous cases, being able to lateralize Hs in four patients and detecting one case of bilateral Hs. Moreover, comparing the performances of the three logistic regression models, the multimodal approach overcame performances obtained with a single image modality for both the hemispheres, reaching a global accuracy value of 0.97 for the right and 0.98 for the left hemisphere. CONCLUSIONS: Multimodal quantitative automated MRI is a reliable and useful tool to depict and lateralize Hs in patients with MTLE, and may help to lateralize the side of MTLE especially in subtle and uncertain cases.

Twelve-month treatment with Liraglutide ameliorates Visceral Adiposity Index and common cardiovascular risk factors in type 2 diabetes outpatients.

AIM: In addition to the effects on glycemic control and body weight, GLP-1 receptor agonists may favorably affect other major cardiovascular disease (CVD) risk factors, although currently available data are still sparse. In this retrospective study, we evaluated the effects of 12-month treatment with liraglutide on major CVD risk factors in 115 type 2 diabetes outpatients (60 men and 55 women), on stable hypoglycemic, anti-hypertensive and/or lipid-lowering therapy. METHODS: Clinical and anthropometric data, metabolic and lipid profile, as well as the Visceral Adiposity Index (VAI), an obesity-related CVD risk factor, were measured in all participants at baseline and after 12-month treatment. RESULTS: Treatment with liraglutide was associated with a significant reduction from baseline values of fasting blood glucose (-42.1 mg/dl, P < 0.05), HbA1c (-1.5 %, -17 mmol/mol, P < 0.05), body weight (-7.1 kg, P < 0.05), waist circumference (-6.8 cm, P < 0.001), total-cholesterol (-27.4 mg/dl, P < 0.05), LDL-cholesterol (-25.4 mg/dl, P < 0.05), triglycerides (-56.1 mg/dl, P < 0.05), and non-HDL-C (-36.6 mg/dl, P < 0.05) and an increase of HDL-cholesterol concentrations (+9.3 mg/dl, P < 0.001), a significant reduction in both systolic and diastolic blood pressure (-14.7 mmHg, P < 0.001 and -9.0 mmHg, P < 0.05, respectively) and a decrease of VAI values (-1.6, P < 0.001). All these differences were independent of changes in BMI and comparable in men and women. CONCLUSIONS: In conclusion, 12-month treatment with liraglutide in add-on to on-going hypoglycemic therapy significantly ameliorates all major CVD risk factors and reduces cardiometabolic risk, as estimated by VAI values.

Agreement between two- and three-dimensional transperineal ultrasound methods for assessment of fetal head-symphysis distance in active labor.

OBJECTIVES: To assess the intermethod agreement between two-dimensional (2D) and three-dimensional (3D) transperineal ultrasound methods in measuring a new index of fetal head station (the fetal head-symphysis distance (HSD)) in active labor, and to assess potential factors that may affect their agreement. METHODS: HSD was measured by transperineal ultrasound in 86 women in active labor, once using a 2D and once using a 3D technique. 2D images were acquired first in 43 cases and 3D images were acquired first in the other 43 women. Intermethod agreement between 2D and 3D methods was analyzed by means of intraclass correlation coefficient (ICC) and Bland-Altman analysis. In addition, potential factors affecting the intermethod reproducibility were investigated including fetal occiput position, order of acquisition, fetal head station, stage of labor, maternal body mass index and use of epidural analgesia, using the ANOVA test to check for systematic bias and Levene's test for homoscedasticity. RESULTS: Good agreement was demonstrated between 2D and 3D measurements of HSD (ICC, 0.949 (95% CI, 0.914-0.984)). No evidence of systematic difference was shown between the two methods (average difference ± SD = 0.03 ± 2.29 mm; P = 0.888). The only factor that had a significant effect on systematic difference between 2D and 3D methods was order of acquisition (P = 0.042); the first observation was higher regardless of the method used. Fetal head station had a significant effect on the homogeneity between the two methods (P = 0.004) with a better 2D-3D agreement obtained at lower head stations (SD of differences: 1.63 vs 2.59 mm). CONCLUSIONS: There is very good agreement between 2D and 3D methods of assessing HSD. Agreement is better in lower fetal head stations.

Sonographic pattern of fetal head descent: relationship with duration of active second stage of labor and occiput position at delivery.

OBJECTIVES: The objectives of this study were firstly to assess the longitudinal changes of various sonographic parameters of fetal head progression in relation to length of active second stage of labor, and secondly to compare ultrasound findings obtained longitudinally among fetuses with persistent occiput posterior (OP) vs those with persistent occiput anterior (OA) position. METHODS: From a series of nulliparous low-risk women at term attending the labor ward of our university hospital, transperineal ultrasound volumes were prospectively acquired at the beginning of the active second stage (T1) and at 40-min intervals thereafter until delivery (T2, T3). Sonographic parameters were derived from offline analysis of each volume, including the angle of progression (AoP), progression distance (PD), head-symphysis distance (HSD), head direction (HD) and midline angle. These parameters were compared between patients who delivered within 60 min from the beginning of the active second stage of labor (early delivery) and those who remained undelivered by that time (late delivery). Fetal head position was determined from stored digital images of transabdominal examinations performed at the beginning of the active second stage. Comparison was performed between fetuses with OA and those with persistent OP position at delivery. RESULTS: Spontaneous vaginal delivery was achieved in 58 (81.7%) cases, whereas vacuum extraction and Cesarean section were performed in eight (11.3%) and five (7.0%) cases, respectively. Delivery was achieved within 60 min from the beginning of the active second stage in 44 (62.0%) patients. In the early vs late delivery groups, measurements of AoP, HSD and PD at T1 were significantly different (AoP, 143.9 ± 20.5° vs 125.3 ± 15.0°, P < 0.001; HSD, 14.8 ± 4.5 mm vs 20.9 ± 5.8 mm, P < 0.001; PD, 44.0 ± 14.1 vs 35.0 ± 13.1 mm, P = 0.008). On logistic regression analysis of data obtained at T1, maternal body mass index, oxytocin administration, neonatal birth weight and HSD appeared to predict independently duration of the active second stage. Among fetuses delivering in the OP position (n = 10, 13.5%), Cesarean delivery was significantly more common than in those delivering in the OA position (n = 5 (50.0%) vs n = 2 (3.1%), P = 0.001). Women with persistent OP position compared with OA showed a significantly different AoP at T1 (122 ± 17° vs 138 ± 20°, P = 0.016), HD and HSD at T1 (HD, 112 ± 17 mm vs 86 ± 19 mm, P < 0.001; HSD, 16.5 ± 5.4 mm vs 22.8 ± 6.6 mm, P = 0.008) and at T2 (HD, 120 ± 16 vs 82 ± 27 mm, P = 0.008; HSD, 12.6 ± 3.4 mm vs 18.5 ± 5.4 mm, P = 0.038). CONCLUSIONS: AoP, PD and HSD are significantly different between patients undergoing delivery before or after 60 min from the beginning of the active second stage of labor. Ultrasound parameters are among the significant predictors of duration of the active second stage. Moreover, in fetuses persisting in the OP position vs those delivering in the OA position, fetal head progression seems to differ at early phases of the active second stage.

Hippocampal sclerosis worsens autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) phenotype related to CHRNB2 mutation.

BACKGROUND AND PURPOSE: Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a distinct epileptic syndrome with a broad range of severity even amongst affected members of the same pedigree, and the level of pharmacoresistance may reach 30%, close to that seen in sporadic focal epilepsies. METHODS: To investigate this issue of phenotypic heterogeneity, we prospectively carried out a high-resolution 3-T magnetic resonance imaging (MRI) study in an ADNFLE family containing 10 affected members including one pharmacoresistant patient and carrying the V287L mutation of the CHRN beta2 subunit (CHRNB2). MRI studies were evaluated in a manner blinded to the electro-clinical data. RESULTS: The brain MRI showed normal results in all affected individuals except the 22-year-old right-handed woman (member III-7) who had refractory seizures and typical radiological signs of left hippocampal sclerosis. She also had a simple febrile seizure at the age of 10 months. CONCLUSION: The results of this study illustrate that hippocampal sclerosis has offered a fertile substrate for intractable ADNFLE to develop. The present findings also highlight the importance of acquired factors that are directly relevant to the epilepsy phenotype and its severity even in monogenic epilepsies.

Intrapartum transperineal ultrasound assessment of fetal head progression in active second stage of labor and mode of delivery.

OBJECTIVE: To compare longitudinal changes in angle of progression (AoP) and midline angle (MLA) during the active second stage of labor according to the mode of delivery. METHODS: A three-dimensional transperineal ultrasound volume was acquired in a series of nulliparous women at the beginning of the active second stage (T1) and every 20 min thereafter (T2, T3, T4, T5 and T6). Following delivery, all ultrasound volumes were analyzed and AoP and MLA were measured. RESULTS: Among 71 women included in the study, 58 underwent spontaneous vaginal delivery (group A) and 13 underwent operative delivery (group B) (eight by vacuum extraction and five by Cesarean section). When compared with Group B, Group A had a wider AoP only at T1 (140.0 ± 20.2° vs. 122.9 ± 16.7°; P = 0.010) and T2 (149.7 ± 20.7° vs. 126.9 ± 17.5°; P = 0.006). MLA was narrower in group A only at T3 (21.2 ± 11.7° vs. 40.8 ± 27.9°; P = 0.043), T4 (18.2 ± 15.0° vs. 47.4 ± 29.6°; P = 0.020) and T5 (18.3 ± 6.0° vs. 34.7 ± 4.2°; P = 0.034). On stepwise forward multiple logistic regression analysis, both AoP and MLA were independently associated with operative delivery (OR = 0.955 and OR = 1.018, respectively). CONCLUSION: Ultrasonographic assessment of fetal head descent in the second stage of labor may play a role in the prediction of the mode of delivery.

Usefulness of rectal biopsy for the diagnosis of Kufs disease: a controlled study and review of the literature.

BACKGROUND AND PURPOSE: Rectal biopsy is usually performed for in vivo diagnosis of Kufs disease (KD). We evaluated the usefulness of rectal biopsy in the diagnosis of such condition by comparing ultrastructural data of patients with suspicion of KD with those of control subjects. Furthermore, we reviewed literature data concerning the value of such a diagnostic procedure in the diagnosis of KD. METHODS: Sixty-five subjects were enrolled and underwent rectal biopsy. Of these, 13 had a clinical picture in keeping with KD, whereas 52, affected by Irritable Bowel Syndrome, constituted the control group. RESULTS: Ultrastructural analysis evidenced fingerprint (FP) inclusions in 12 subjects, 4/13 with suspicion of KD and 8/52 controls. In patients, FPs were mainly located in vascular smooth muscle cells (VSMC) while in controls they were mostly found in pericytes and VSMC. No FPs were found in one patient with genetically confirmed KD. In literature, we identified 14 KD patients who underwent rectal biopsy. In most reports, ultrastructural features were not systematically analyzed or described. CONCLUSIONS: Fingerprints are the most common ultrastructural finding in rectal biopsy in patients with suspicion of KD. However, their presence in pericytes and VSMC is not specific for KD because they may be found in controls subjects. Our literature review revealed that data on the value of rectal biopsy in the diagnosis of KD are scarce. In light of these findings, the relevance of rectal biopsy in such condition should be re-evaluated.

Bell's palsy: a manifestation of prediabetes?

BACKGROUND: Idiopathic peripheral facial nerve palsy or Bell's palsy (BP) is the most common cause of facial nerve palsy. OBJECTIVE: To evaluate the role of glucose metabolism abnormalities in BP. METHODS: We identified 148 patients with unilateral BP and 128 control subjects. In all we evaluated glucose level at fasting and after a 2-h oral glucose tolerance test (2h-OGTT). In addition we determined insulin resistance (IR), by HOMA-index. Patients and controls were divided in to two groups, according to their Body Mass Index (BMI). RESULTS: Following a 2h-OGTT, the prevalence of glucose metabolism abnormalities was significantly higher in patients with BP than in controls (P < 0.001). Impaired glucose tolerance (IGT) was found in 57 (38%) patients and in 23 (18%) controls, while a new-diagnosed DM (NDDM) was found in 29 (19%) patients and in 8 (6%) controls. The IR was significantly increased only in BP patients with BMI ≥ 24.9 (P = 0.005). BMI, waist circumference, blood pressure, tryglicerides, serum lipid, drugs use were not significantly different between patients and controls. CONCLUSIONS: In this study we found that prediabetes is frequently associated with facial palsy. We propose to perform a 2h-OGTT in patients with peripheral facial palsy and normal fasting glycaemia. HOMA-index should be evaluated in obese facial palsy patients.

Accuracy of fetal gender determination in the first trimester using three-dimensional ultrasound.

OBJECTIVES: To evaluate the accuracy of three-dimensional (3D) ultrasound in fetal gender assignment in the first trimester. METHODS: A series of pregnant women attending at 11 to 13 + 6 weeks for the nuchal translucency (NT) scan were enrolled into the study. An ultrasound volume of each fetus was obtained and stored for offline analysis. On the reconstructed mid-sagittal plane, the angle between the genital tubercle and an imaginary line passing tangentially through the fetal back (genital angle) was estimated and a receiver-operating characteristics (ROC) curve was constructed to determine the best cut-off for genital angle in fetal male gender determination. Fetal gender was subsequently ascertained in all cases. To calculate the interobserver variability, a second operator repeated the measurements. RESULTS: There were 85 cases included in the study. The genital angle in males was significantly higher than that in females (51.2 ± 11.3° (n = 36) vs. 18.9 ± 4.1 (n = 49), P < 0.001). The ROC curve revealed the estimated genital angle to have a high degree of accuracy in fetal gender determination (area under the curve ± SE = 1.000 ± 0.001). The best cut-off for male gender determination was found to be between 27° and 29° (sensitivity, 100%; specificity, 98.0%). There was a high degree of correlation between the two operators (r(2) = 0.998; coefficient of variation = 5.4%). CONCLUSIONS: 3D ultrasound is a highly accurate and reproducible tool for fetal gender assignment prior to 14 weeks of gestation.

Evaluation of patient-reported outcome in subjects treated medically for acute pancreatitis: a follow-up study.

AIMS: To explore the quality of life in patients treated medically during the acute phase of pancreatitis as well as at 2 and 12 months after discharge from the hospital. PATIENTS: 40 patients were studied. The etiology of the pancreatitis was biliary causes in 31 patients and non-biliary causes in 9; mild disease was present in 29 patients and severe disease in 11. 30 patients completed the two surveys at 2 and 12 months after hospital discharge. METHODS: The SF-12 and EORTC QLQ-C30 questionnaires were used for the purpose of the study. RESULTS: The two physical and mental component summaries of SF-12, all the domains of EORTC QLQ-C30 (except for physical functioning and cognitive functioning) and some symptom scales of EORTC QLQ-C30 (fatigue, nausea/vomiting, pain, and constipation) were significantly impaired during the acute phase of pancreatitis. There was a significant improvement in the SF-12 physical component summary, and global health, role functioning, social functioning, nausea/vomiting, pain, dyspnea, and financial difficulties (EORTC QLQ-C30) at 2 months after discharge as compared to the basal evaluation. Similar results were found after 12 months except for the mental component score at 12-month evaluation, which was significantly impaired in acute pancreatitis patients in comparison to the norms. The physical functioning of the EORTC QLQ-C30 at basal evaluation was significantly impaired in patients with severe pancreatitis in comparison to patients with mild pancreatitis. CONCLUSIONS: Two different patterns can be recognized in the quality of life of patients with acute pancreatitis: physical impairment is immediately present followed by mental impairment which appears progressively in the follow-up period.

Cervical length and risk of antepartum bleeding in women with complete placenta previa.

OBJECTIVE: To evaluate if cervical length predicts prepartum bleeding and emergency Cesarean section in cases of placenta previa. METHODS: Between September 2005 and September 2007, cervical length was measured by transvaginal ultrasound in women with complete placenta previa persisting into the third trimester of pregnancy. A complete follow-up of pregnancy was obtained in all cases. RESULTS: Overall, 59 women were included in the study group. The mean +/- SD gestational age at ultrasound was 30.7 +/- 2.7 weeks and the cervical length was 36.9 +/- 8.8 mm. Cesarean delivery was performed in all cases, at a mean gestational age of 34.7 +/- 2.3 weeks. Twenty-nine (49.1%) of the women presented prepartum bleeding and 12 (20.3%) required an emergency Cesarean section prior to 34 completed weeks due to massive hemorrhage. Cervical length did not differ significantly between cases with and those without prepartum bleeding (35.3 +/- 9.3 mm vs. 38.4 +/- 8.2 mm; P = 0.18), but was significantly shorter among patients who underwent emergency Cesarean section < 34 weeks due to massive hemorrhage compared with patients who underwent elective Cesarean section (29.4 +/- 5.7 mm vs. 38.8 +/- 8.5 mm; P = 0.0006). CONCLUSIONS: Transvaginal sonographic cervical length predicts the risk of emergency Cesarean section < 34 weeks in women with complete placenta previa.

Steroid responsiveness and treatment regimen of steroids in acute autoimmune pancreatitis.

Autoimmune pancreatitis is the pancreatic manifestation of a systemic inflammatory disease in which affected organs are characterized by intense lymphoplasmacytic infiltration. The diagnosis of autoimmune pancreatitis sometimes is puzzling and its differentiation from pancreatic cancer is a clinical challenge. The features of autoimmune pancreatitis are its typical histological pattern, imaging, serology (increase of immunoglobulins and the presence of autoantibodies), associated non-pancreatic organ involvement and response to steroid therapy. Recent advances in identifying these features have resulted in enhanced recognition, diagnosis of this benign disease and the avoidance of unnecessary surgical procedures for suspected malignancy. In this article, the authors will review recent updates in the steroid treatment of autoimmune pancreatitis.