Exploring disease perception in Behçet's syndrome: combining a quantitative and a qualitative study based on a narrative medicine approach.

BACKGROUND: Behçet Syndrome (BS) has a significant psychological and social impact on patients, caregivers and families. The present study aims at exploring disease perception in BS patients, using both a co-designed survey and the narrative medicine (NM) approach. METHODS: An ad-hoc questionnaire was co-designed by clinicians expert in BS, BS patients and caregivers and BS adult patients were invited to answer the online questionnaires. Cluster analysis was used to analyse data from the survey and to identify groups of patients with diverse disease perception. To further explore real-life perspectives, the stories of illness of a smaller group of adult BS patients were anonymously collected online and analysed by means of text, sentiment and qualitative analysis. RESULTS: Two hundred and seven patients answered the survey and forty-three stories were collected. The cluster analysis highlighted that accepting or not the disease has a strong impact on the daily life, on how BS patients perceive themselves and in terms of hope for the future. The stories revealed that patients often address common issues, such as the long and complex journey faced from the disease onset until the BS diagnosis, which was strongly connected to the concept of time and perceived as an exhausting period of their lives. CONCLUSION: To our knowledge, this is the first study that addressed disease perception also applying the NM principles in BS. The current perception that BS patients have of their disease should encourage the BS scientific and patient community in joining forces in order to improve the journey of BS patients.

Empowering rare disease patients through patient education: the new BehçeTalk programme.

BACKGROUND: Educating patients and caregivers on their disease can improve their knowledge and promote the active involvement in the therapeutic decision-making process. Naturally, patient education programmes are critically important in rare systemic autoimmune diseases, where relevant knowledge and expertise still remain scattered. Behçet's disease (BD) represents a challenging rare condition, characterized by a variable spectrum of disease profile and a relapsing course. RESULTS: Recently, BehçeTalk, an educational programme tailored for BD patients, families and caregivers with, was launched. BehçeTalk, entirely co-designed with BD patients, is offering educational on-line webinars on different aspects of the disease, as well support groups for patients and caregivers coordinated by a psychologist with specific expertise in BD. CONCLUSIONS: The therapeutical management of BD is often challenging and frequently includes off-label treatments. Considering the specificities of BD, providing a specific education on the disease to patients will lead to empower them in being part of the decision-making processes, in the self-management and in improving their quality of life.

Vivax malaria in a blood donor in Spain, relapse or a new infection in a malaria non-endemic country?

Malaria is a vectorborne disease caused by protozoan of the genus Plasmodium, which can also be transmitted by the transfusion of infected red blood cells. One year after return from a travel to Honduras, a Spanish traveller developed vivax malaria. Prior to the onset of symptoms, the donor made a donation that tested non-reactive using an immunological test for malaria. Samples from the donor taken before donation and tested by serological and molecular methods were negative but positive at the time of hospital admission. The possible sources of the donors' infection, imported versus locally acquired, are discussed.

[Intraepithelial cervical squamous lesions: comparison between PAP-test, colposcopy, phase contrast microscopy and histology; usefulness of their synergic use]. / Lesioni intraepiteliali squamose cervicali: raffronto tra il PAP-test, la colposcopia, la microscopia a fresco e l'esame istologico; utilità di un loro uso sinergico.

AIM: In the last 10 years the tumors of cervix have showed a significant reduction in incidence, while the preneoplastic lesions are increased (linked often to human papilloma virus [HPV] infection), and so it is enhanced the role of early diagnosis. METHODS: The Authors have examined 124 patients at colposcopy showing transformation zone anomalies and/or HPV infections. The patients have submitted to PAP-test, phase contrast microscopy and to biopsy. RESULTS: The analysis of our cases show oneself better sensitivity of colposcopy than cytologic exam, in particular in the diagnosis of low grade intraepithelial lesions (LSIL), corresponding to CIN 1 and HPV lesions. CONCLUSIONS: Phase contrast microscopy, by search of possible preneoplastic elements in the smear, is a complementary technique, and if performed systematically and by qualified operators allows to reduce furthermore false negative rate. The synergic use of tools allows to increase of number of intrecervical neoplasia diagnosis. The following cost's increase cannot be considered an obstacle and it is not should be necessary to counsel always the colposcopy in case of anomalous PAP smear revealed during screening.

[Preeclampsia and high serum levels of homocysteine]. / Preclampsia ed elevati livelli sierici di omocisteinenia.

AIM: Preeclampsia, a syndrome that can arise in the second half of pregnancy and that is characterised essentially by the presence, alone or variously combined, of three symptoms, oedemas, proteinuria and hypertension, has an incidence which varies between 5-7% and 25%. It seems that the element which determines the start and the continuation of the syndrome is located in the placenta and, in particular, in structural and functional changes of the trophoblast syncytium. In addition, the literature contains numerous studies that have evidenced endothelial damage as a key element to the pathogenetic mechanism in EPH-gestosis and recently an important role is attributed to a condition of hyperhomocysteinaemia. METHODS: Blood samples obtained from 30 primigravidas with term pregnancies and physiological course were taken within 1 week of delivery and from the same number of primigravidas hospitalised for preeclampsia. RESULTS: The homocysteine levels observed were significantly higher in women with preeclampsia (8.8+/-2.7 mol/l compared with the control group (4.1+-1.8 mol/l) (P<0.05). Haematocrit values measured on the day the sample was taken did not present any particular differences in the two groups. CONCLUSIONS: Our research, carried out on gravid patients at term of a physiological pregnancy and without intercurrent diseases and on primigravidas with preeclampsia who came to our observation at the moment of delivery and with a negative history for chronic hypertension, diabetes or other, showed a high concentration of homocysteine in the primigravidas with preeclampsia close to childbirth.

[Recurrent spontaneous miscarriages and hyperhomocysteinemia]. / Aborti spontanei ricorrenti e iperomocisteinemia.

AIM: Recurrent fetal loss is defined as the number of consecutive miscarriages which is not less than 2 occurred within the 16th week of gestation and it is a very interesting pathology of pregnancy. Further to thrombophilia, very important causes have been identified, since the damage of the vascular system supporting the placenta may cause a deficiency of placenta functions and development, leading to a loss of the conception product, also in a condition of hyperhomocystinemia, causing a damage to the vascular endothelium. Hyperhomocystinemia seems to be a risk factor for artero-venous thrombotic diseases, even not in pregnancy. METHODS: We have examined 40 patients referred to our Institute for unexplained fetal loss (at least 2 consecutive miscarriages within the 16th week of gestation) and the same number of patients who had at least 1 spontaneous delivery with a healthy and alive newborn and none abortion nor fetal death nor abruptio placentae. RESULTS: The mean levels of homocystinemia observed were significantly different in the 2 groups (p = or < 0.05). In the control group the values of plasmatic homocysteine were 10+/-4 micromol/L, corresponding to normal range, while in the other group the values of plasmatic homocysteine were 21+/-6 micromol/L, values certainly elevated, also because during the 1st trimester of pregnancy the levels of homocysteine decrease, reaching the lowest value during the 2nd trimester of pregnancy. In particular, high levels of homocysteine have been found in 25% (10) of women with unexplained early fetal loss. CONCLUSION: Hypercystinemia, as a consequence of an interaction between a primary genetic defect and a nutrition condition (folate deficiency), may be a cause of recurrent miscarriages. Therefore, in these cases, a possible hypercystinemia should be searched and an association of folic acid and vitamin B6, a non teratogenic treatment, should be useful to restore the metabolic picture and to favour the pregnancy outcome.

[Outcome of pregnancy in patient with cloacal dysgenesis]. / Outcome di una gravidanza in paziente con disgenesia cloacale.

The cloacal dysgenesis or persistent cloaca is an anomaly included in urogenital tract malformations (UGM) and, in particular, in anomalies due to a missed development of the urogenital septum. The UGM occur during 6-11th weeks of gestation owing to a stop and/or alteration of the normal development and subdivision process of the cloaca, the embryonic structure from which gives origin to the ano-rectal segment of midgut, bladder, ureters, vagina and uterus. The case of a patient submitted to many surgical treatments for urogenital tract congenital malformations is described; when pregnant, she carried other pregnancy until the 34th week of gestation, giving birth a newborn by cesarean section. The patient was checked constantly for her general conditions and, in particular, her renal functions by an active collaboration between internist, nephrologist and gynecologist.

[Factor V Leiden mutation. Successful outcome of a pregnancy after heparin therapy]. / Mutazione del fattore V di Leiden. Esito positivo di una gravidanza dopo terapia con eparina.

Several reports have highlighted the significant correlation between maternal thromboembolism pathologies, such as factor V Leiden mutation, and the occurrence of gestational pathologies. The main causes of thromboembolism pathologies are the inherited coagulopathies. The most common genetic predispositions include autosomal dominant inheritance coagulative factors deficiencies, such as antithrombin III (AT III), C protein (CP), S protein (SP), G20210A mutation, hyperomocystinemia and the activated C protein resistance, caused by factor V Leiden mutation. Maternal thromboembolism as an inherited coagulopathy expression, may be associated with high fetal-maternal morbidity and mortality rate. Nowadays, a wide screening is not possible, but the patients with previous or familiar deep venous thrombosis episodes should at least undergo very careful examinations. In the present case the patient's knowledge of her own status as a factor V Leiden mutation carrier , the prophylactic therapy performed, and the frequent fetal and maternal monitoring allowed us to avoid the recurrence of the dramatic events occurring during her first pregnancy.

The clivus-supraocciput angle: a useful measurement to evaluate the shape and size of the fetal posterior fossa and to diagnose Chiari II malformation.

OBJECTIVE: To obtain a nomogram of the clivus-supraocciput angle as a basis for the diagnosis of Chiari II malformation in fetuses with ventriculomegaly. METHODS: A cross-sectional study was undertaken on 310 normal pregnant women of 16-34 weeks' gestation. A mid-sagittal section of the fetal skull was obtained and the angle between the clivus and the supraocciput was measured. Forty-four fetuses with ventriculomegaly due to various causes (13 Chiari II malformation, 12 dysgenesis of the corpus callosum, 7 aqueductal stenosis, 6 borderline ventriculomegaly, 3 Dandy-Walker malformation, 2 porencephaly, 1 schizencephaly) were also included in the study and the values of the angle found in the pathological cases were compared with those found in the normal population. RESULTS: The clivus-supraocciput angle did not change during gestation and was almost constant with an average value of 79.3 +/- 6 degrees. All cases of Chiari II malformation showed a value below the 5th centile of our nomogram. CONCLUSIONS: The evaluation of the posterior fossa and particularly the measurement of the clivus-supraocciput angle is a useful parameter to differentiate the various causes of fetal ventriculomegaly and particularly to recognize Chiari II malformation.

Serum progesterone, estradiol-17beta and testosterone at the time of relapse in patients with epithelial ovarian cancer.

Raised levels of steroid hormones may be detected in women with ovarian cancer at the time of diagnosis. The goal of this study was to investigate the levels of progesterone, testosterone and estradiol-17beta in patients with relapsed epithelial ovarian cancer. We studied 52 patients with a histologic diagnosis of ovarian cancer; 46 of 52 patients were affected by epithelial tumors, two patients had sexcord-stromal tumors, one patient had a germ cell tumor and three patients had a metastatic cancer from the bowel. Of 34 patients with disease relapse, none had elevated serum testosterone levels (>1 ng/ml), one patient (2.9%) had an elevated serum progesterone level (>1.24 ng/ml) and two patients (5.9%) had elevated estradiol-17beta levels (>28 pg/ml). The relationship between the three hormone levels at the time of initial treatment and at relapse was tested using the Students's t-test. At the time of initial treatment venous concentrations of progesterone, estradiol-17beta and testosterone were higher and statistically different (p<0.05) from samples obtained at the time of relapse in the same patients. No significant differences were found between patients studied at the time of relapse and the control group. Measurement of progesterone, estradiol-17beta and testosterone is not helpful in detecting disease relapse in patients with epithelial ovarian cancer.

Age-related decline in thirst and sodium appetite in rats related to kininase II inhibition.

Water intake was examined in young (3-5 months) and old (20-24 months) rats following peripheral administration of either angiotensin (Ang) II or captopril+bradykinin (BK). Relative to body weight, intake after Ang II showed no age-related difference, while that after captopril+BK was markedly reduced in the old rats. In other rats that were not allowed to drink after captopril+BK, the induction of Fos-like immunoreactivity (IR) was much lower in the subfornical organ, supraoptic and median preoptic nuclei of old rats compared with their young counterparts. Intake of 0.15 M NaCl during chronic dietary administration of enalapril was robust in young rats but was much reduced in old rats, as was their plasma renin activity. Thus, reduced thirst and sodium appetite are found in conjunction with kininase II (angiotensin-converting enzyme) inhibitors in aging rats, possibly because they fail to generate the high levels of circulating renin seen in young rats under these conditions.

Effect of intravenous supplementation of a new essential amino acid formulation in hemodialysis patients.

Protein energy undernutrition (PEU) and abnormalities of amino acid (AA) metabolism are common in maintenance hemodialysis patients (MHP). A new EAA formulation (BS695), enriched with valine and threonine, containing some histidine, and low in phenylalanine and methionine was recently developed. We randomly supplemented 11 MHP with this solution (treated group, TG) and 10 MHP with a standard AA solution containing both essential and non-essential AA (control group, CG). Both groups received 3.65 g of nitrogen, i.v. three times per week during hemodialysis for six months. During treatment, dietary intake remained stable in both groups. Before treatment, after three and six months of treatment, and six months after the end of treatment, we determined routine blood chemistries, anthropometry, serum protein levels (albumin, transferrin), delayed cutaneous sensitivity (Multi-test), protein catabolic rate (PCR), plasma AA content and motor nerve conduction velocity (MNCV). Before treatment PEU, predominantly of marasmic type, was common. After treatment anthropometry and immune response were unchanged in both groups; PCR increased more in CG than in TG; serum albumin levels decreased significantly only in CG; MNCV improved in TG and worsened in CG. These preliminary results suggest that this new EAA formulation may have beneficial effects on some nutrition related abnormalities of MHP. Better results might occur with long-term AA supplementation, particularly if it is associated with a higher energy intake.