Genetic factors underlying insomnia and ovarian insufficiency.

Premature ovarian insufficiency (POI) is characterized by a loss of regular hormone production and egg release in women below the age of 40 years, which often leads to infertility, vaginal dryness and dysfunctional sleep. Acknowledging the common co-occurrence of insomnia and POI, we tested the overlap between POI and insomnia-associated genes, which were implicated in previous large-scale populational genetics efforts. Among the 27 overlapping genes, three pathways were found as enriched: DNA replication, homologous recombination and Fanconi anemia. We then describe biological mechanisms, which link these pathways to a dysfunctional regulation and response to oxidative stress. We propose that oxidative stress may correspond to one of the convergent cellular processes between ovarian malfunction and insomnia pathogenic etiology. This overlap might also be driven by cortisol release associated with dysregulated DNA repair mechanisms. Benefiting from the enormous advances in populational genetics studies, this study provides a novel outlook on the relationship between insomnia and POI. The shared genetic factors and critical biological nodes between these two comorbidities may lead to identification of putative pharmacological and therapeutical targets, which can leverage novel approaches to treat or alleviate their symptoms.

Effect of in vitro vitamin E (alpha-tocopherol) supplementation in human spermatozoon submitted to oxidative stress.

The aim of this study was to evaluate the antioxidant effect of in vitro supplementation with vitamin E in human spermatozoon incubated with an oxidative stress inducer. In this study, semen samples from 30 patients were collected and with one aliquot we performed semen analysis according to WHO. The remaining volume was divided into four aliquots: group C: incubated with BWW medium; group I: incubated with 5 mmol 1-1 hydrogen peroxide; group A: incubated with 40 µmol 1-1 vitamin E; and group AI: incubated with both them. After incubations, sperm functional analyses were performed and included: evaluation of oxidative stress, acrosome integrity, mitochondrial activity and DNA fragmentation. Groups were compared using a Friedman test with Bonferroni post hoc (α = 5%). In this study, we observed that in group I there was a decrease in acrosome integrity and mitochondrial activity, and an increase in DNA fragmentation, when compared to group C. Group AI showed an increase in acrosome integrity and mitochondrial activity when compared with group I. Based on our findings, we conclude that the vitamin E supplementation had a positive effect in protecting human spermatozoon from induced oxidative stress.

Determination of the geographical origin of Brazilian wines by isotope and mineral analysis.

In the present research, we studied wines from three different south Brazilian winemaking regions with the purpose of differentiating them by geographical origin of the grapes. Brazil's wide territory and climate diversity allow grape cultivation and winemaking in many regions of different and unique characteristics. The wine grape cultivation for winemaking concentrates in the South Region, mainly in the Serra Gaúcha, the mountain area of the state of Rio Grande do Sul, which is responsible for 90% of the domestic wine production. However, in recent years, two new production regions have developed: the Campanha, the plains to the south and the Serra do Sudeste, the hills to the southeast of the state. Analysis of isotopic ratios of (18)O/(16)O of wine water, (13)C/(12)C of ethanol, and of minerals were used to characterize wines from different regions. The isotope analysis of δ(18)O of wine water and minerals Mg and Rb were the most efficient to differentiate the regions. By using isotope and mineral analysis, and discrimination analysis, it was possible to classify the wines from south Brazil.

Water, hydrogen, deuterium, carbon, carbon-13, and oxygen-18 content of selected lunar material.

The water content of the breccia is 150 to 455 ppm, with a deltaD from-580 to -870 per mil. Hydrogen gas content is 40 to 53 ppm with a deltaD of -830 to -970 per mil. The CO(2) is 290 to 418 ppm with delta (13)C = + 2.3 to + 5.1 per mil and delta(18)O = 14.2 to 19.1 per mil. Non-CO(2) carbon is 22 to 100 ppm, delta(13)C = -6.4 to -23.2 per mil. Lunar dust is 810 ppm H(2)O (D = 80 ppm) and 188 ppm total carbon(delta(13)C = -17.6 per mil). The (18)O analyses of whole rocks range from 5.8 to 6.2 per mil. The temperature of crystallization of type B rocks is 1100 degrees to 1300 degrees C, based on the oxygen isotope fractionation between coexisting plagioclase and ilmenite.

[Multidetector CT urography: diagnostic role in the evaluation of patients with non-traumatic hematuria]. / Urografia-TC multidetettore: ruolo diagnostico nella valutazione del paziente con ematuria non traumatica.

Blood in the urine (hematuria) can originate from any site along the urinary tract and may be the only sign of renal or vesical malignancy. Therefore, literature recommends for the evaluation of any case of macroscopic or microscopic hematuria. Our aim was to define the diagnostic role of multidetector CT urography (MDCTu) in the evaluation of this symptom through the analysis of 181 consecutive patients from January 2003 to March 2006.

Characterization of wines according the geographical origin by analysis of isotopes and minerals and the influence of harvest on the isotope values.

We studied Brazilian wines produced by microvinification from Cabernet Sauvignon and Merlot grapes, vintages 2007 and 2008, from the Serra Gaúcha, Campanha and Serra do Sudeste regions, in order to differentiate them according to geographical origin by using isotope and mineral element analyses. In addition, the influence of vintage production in isotope values was verified. Isotope analysis was performed by isotope ratio mass spectrometry (IRMS), and the determination of minerals was by flame atomic absorption (FAA). The best parameters to classify the wines in the 2008 vintage were Rb and Li. The results of the δ(13)C of wine ethanol, Rb and Li showed a significant difference between the varieties regardless of the region studied. The δ(18)O values of water and δ(13)C of ethanol showed significant differences, regardless of the variety. Discriminant analysis of isotope and minerals values allowed to classify approximately 80% of the wines from the three regions studied.

Second-generation sonographic contrast agents in the evaluation of renal trauma.

PURPOSE: The purpose of this study was to define the indications, diagnostic accuracy and limitations of second-generation sonographic contrast agents in the evaluation of patients with renal trauma. MATERIALS AND METHODS: Between March 2004 and April 2005, 277 patients with blunt abdominal trauma were evaluated. Twenty-eight out of 277 patients had renal lesions, the severity of which was graded according to the organ injury severity scale of the American Association for the Surgery of Trauma (AAST). All the patients enrolled in the study had minor trauma and were evaluated with baseline ultrasound (US), contrast-enhanced US after injection of a second-generation contrast agent (SonoVue) and, if positive, with multiphasic multidetector computed tomography (MDCT). RESULTS: Five out of 28 traumatic parenchymal lesions with perirenal fluid collection were identified at baseline US. All 28 renal parenchymal lesions, with or without perirenal or retroperitoneal haematoma, were identified at contrast-enhanced US. Multiphase MDCT confirmed all the cases that were positive at contrast-enhanced US and demonstrated the integrity of the urinary tract in the delayed phase. CONCLUSIONS: Our experience confirmed the diagnostic accuracy of second-generation sonographic contrast material both for diagnosis and for appropriate patient management. In particular, contrast-enhanced sonography proved to be a reliable technique for the evaluation and follow-up of low-grade renal injuries. Its main advantage is reduced radiation exposure, as fewer MDCT examinations are needed, whereas its limitation is the high cost of the technique if used in unselected patients.

October 1942: a strange epidemic paralysis in Saval, Verona, Italy. Revision and diagnosis 50 years later of tri-ortho-cresyl phosphate poisoning.

In the autumn of 1942 a strange epidemic paralysis started in Saval, at that time a country area but now part of the city of Verona. The epidemic went on for several months and affected 41 people, all working as owners or labourers on the same farm. Some of the farm animals (chickens, horses, cattle, pigs) also became ill. About 20 patients were admitted to the nearby city hospital. The outbreak was diagnosed as polyneuritis with a probable viral cause. Fifty years later, seven people with sequelae of the disease were examined. The most severe cases present a spastic paraplegia and lower leg muscle atrophy without sensory impairment, resembling an amyotrophic lateral sclerosis "frozen" for 50 years. The clinical syndrome can now be attributed confidently to organophosphate induced delayed polyneuropathy. All the epidemiological data obtained from the survivors were evaluated and a careful review of the literature was made. Contamination of the ground from a rubbish dump near the farmyard would explain the epidemiology of the Saval outbreak.

[Copper in the menstrual and physiological cycle cervical mucus of copper IUD users (author's transl)]. / Le cuivre dans le mucus cervical du cycle menstruel physiologique et chez les porteuses de DIU au cuivre.

PIP: The article studies the concentration of copper in the cervical mucus of users and nonusers of copper IUDs. Of the 170 samples taken 90 were basal, i.e. taken from nonusers, and 80 were taken from users of No-Gravid, Dalkon Shield, Gravigard, Copper T, and Progestasert. Concentration of copper was much higher in IUD wearers than in nonwearers, even after 2 years from insertion, except in wearers of Dalkon Shield and of Progestasert. Copper concentration in wearers of Gravigard and Copper T were lower than concentrations found in wearers of No-Gravid.^ieng

Hemoretroperitoneum associated with liver bare area injuries: CT evaluation.

In hepatic injury restricted to the postero-superior region of segment VII (bare area), hemoperitoneum may be absent and this condition may be associated with hemoretroperitoneum. The aim of this paper is to present the association between bare area injuries and hemoretroperitoneum evaluated by CT. The CT examinations of 32 patients with blunt liver trauma were reviewed and the number and location of lesions were evaluated. Right lobe involvement was identified, focusing on the bare area lesions. The presence of hemoperitoneum and hemoretroperitoneum were determined. In the 32 patients 44 parenchymal lesions were detected. Segment VII was involved in 16 cases: 5 patients presented an intraparenchymal lesion, 11 patients a lesion emerging to the liver surface. In 8 cases the lesion was localized in the bare area. In the 16 patients presenting a segment-VII lesion, hemoperitoneum was detected in 3 cases, hemoretroperitoneum in 4 cases, and both conditions in 4 cases. A traumatic hepatic lesion may be associated with hemoretroperitoneum rather than hemoperitoneum. This justifies the absence of clinical signals of peritoneal irritation; the negativity of both US scan and peritoneal lavage may cause an inappropriate therapeutic management. Computed tomography yields both the detection of the parenchymal damage and the correct localization of the intraperitoneal and retroperitoneal hemorrhage.

[US and CT findings in complicated Meckel diverticulum]. / Aspetti ecografici e TC nelle complicanze del diverticolo di Meckel.

AIM: Meckel s diverticulum is the most common congenital abnormality of the small bowel. It may be silent or symptomatic when complicated by hemorrage, intestinal occlusion, diverticulitis and umbilical fistulas. Radiologic diagnosis is often difficult because abdominal plain radiography and ultrasound are not sufficiently specific; CT is most accurate in differential diagnosis. MATERIAL AND METHODS. 11 patients (age 5-69 ys) were studied. Clinical symptoms included acute abdomen (4 pts), intestinal occlusion (3 pts), abdominal pain (4 pts), fever (5 pts). Radiological studies were abdominal plain radiography (8 pts), ultrasound (5 pts), CT (9 pts). RESULTS: Abdominal plain radiography depicted signs of intestinal occlusion (4 pts) and perforation (1 pts); in 4 pts the signs were non diagnostic. Ultrasound showed an abscess in the pelvis (2 pts), dilatation and wall-thickening of an intestinal loop (2 pts), intestinal invagination (1 pts); it was not diagnostic in 3 pts. CT was not diagnostic in 3 pts; in 2 pts it showed an abscessual fluid collection in the pelvis, adherent to intestinal loops, with flogosis of the perivisceral fat; in 1 pt it revealed perforation; in 4 cases it was specific showing inversion of the diverticulum in an intestinal loop (2 pts) or a tubular fluid-filled structure, with thickened walls and contrast enhancement, which was interpreted as a inflammatory diverticulum (2 pts). DISCUSSION: Our series confirms the difficulty of diagnosing Meckel s diverticulum in an acute setting. Abdominal plain radiography only allowed to diagnose intestinal occlusion or perforation. Ultrasound revealed abscessual collections in the pelvis, fluid distention of the diverticulum, segmental thickening of the intestinal walls and invagination. CT proved to be more specific showing signs suggestive of correct diagnosis in 6 pts. In particular, evidence of an intraluminal prolonged mass with central area of fat density and peripherral collar was considered suggestive of intraluminal invagination of Meckel s diverticulum. Another diagnostic sign is the evidence of a tubular fluid-filled structure, with thickened, enhanced walls. In 2 cases CT showed an abscessual collection with gas-fluid level (complication of perforation) confirming the need for surgery. CONCLUSION: Meckel s diverticulum is a not uncommon condition that in some cases is complicated, resulting in acute abdomen. Preoperative radiological diagnosis can be suspected in the presence of suggestive signs, more often depicted by CT.

Estrogen and progesterone receptors in breast cancer: correlation with clinical and pathological features and with prognosis.

Estrogen and progesterone receptor status was reviewed in 405 patients from prior adjuvant breast cancer trials at the University of Verona. Only 233 patients were actually examined with respect to hormone status and outcome. No relationship between hormone receptor status and most of the commonly followed prognostic signs, i.e. tumor size, nodal status, and age, was found. Overall survival was correlated with hormone receptor positivity for patients with more than 4 positive axillary nodes. Disease-free survival was correlated only with PgR positivity, in premenopausal and in T1 groups.

[Isolated blunt hepatic traumas: role of emergency CT in therapeutic choice].

INTRODUCTION: The purpose of the study was to establish the role of score-based CT classification of hepatic lesions, peritoneal and retroperitoneal bleeding in the blunt hepatic trauma. MATERIAL AND METHODS: CT examinations of 47 haemodynamically stable patients, with isolated traumatic hepatic lesions were reviewed. CT scans were obtained with a spiral CT (thickness mm 10, pitch of 1) before and after 60 seconds after from intravenous administration of 140 cc of contrast medium at a rate of 2 cc/sec). Eleven out of 47 patients underwent surgery immediately after the CT examination, 2/47 patients in 48 hours; 34/47 patients were treated conservatively with CT follow-up on days 3 and 7, and before dimission discharge. The hepatic lesions, and degree of peritoneal and retroperitoneal haemorrhage were classified using the following scale: 1-5 for the hepatic lesions, in according to the Mirvis classification; 0-3 for peritoneal haemorrhage (0=no haemorrhage, 1=minor mild haemorrhage, 2=moderate haemorrhage, 3=major massive haemorrhage); 0-2 for retroperitoneal haemorrhage (0=no haemorrhage, 1=haemorrhage confined to the anterior pararenal space, 2=haemorrhage in 2 or more retroperitoneal spaces). The score was correlated to the treatment decisions (follow-up or surgery). RESULTS: Based on the hepatic lesion scores, we classified: 4 patients as grade 1 of grade 1, 9 as grade 2, 22 as grade 3, 11 as grade 4, 1 as grade 5; based on peritoneal haemorrhage, 14 patients as grade 0, 9 as grade 1, 8 as grade 2, and 10 as grade 3; based on retroperitoneal haemorrhage, 36 patients as grade 0 of grade 0, 3 as grade 1, and 8 as grade 2. The overall scores of the 13 patients that who underwent surgery were: 6 in 6 patients, 7 in 4 patients, 8, 9, and 10 in 1 patient. DISCUSSION AND CONCLUSIONS: CT is the modality of reference for evaluating traumatic hepatic lesions. The selection of patients for surgery requires an accurate classification and grading of the lesions. The classification of hepatic lesions alone, however, is not sufficient, as it does not take into account peritoneal and retroperitoneal haemorrhage, that which often occurs, and are correlated with the need for exploratory laparotomy. Integrated score-based evaluation of the hepatic lesions, peritoneal and retroperitoneal haemorrhage shows a good correlation with treatment decisions and clinical outcome.