Effect of the COVID-19 pandemic on the care for acute cholecystitis: a Swedish multicentre retrospective cohort study.

OBJECTIVES: The present study aimed to investigate if and how the panorama of acute cholecystitis changed in 2020 in Sweden. Seven aspects were identified, the incidence of cholecystitis, the Tokyo grade, the timing of diagnosis and treatment, the proportion treated with early surgery, the proportion of patients treated with delayed surgery, and new complications from gallstones. DESIGN: Retrospective multicentre cohort study. SETTING: 3 hospitals in Sweden, covering 675 000 inhabitants. PARTICIPANTS: 1634 patients with cholecystitis. OUTCOMES: The incidence, treatment choice and diagnostic and treatment delay were investigated by comparing prepandemic and pandemic patients. RESULTS: Patients diagnosed with cholecystitis during the pandemic were more comorbid (American Society of Anesthesiologists 2-5, 86% vs 81%, p=0.01) and more often had a diagnostic CT (67% vs 59%, p=0.01). There were variations in the number of patients corresponding with the pandemic waves, but there was no overall increase in the number of patients with cholecystitis (78 vs 76 cases/100 000 inhabitants, p=0.7) or the proportion of patients treated with surgery during the pandemic (50% vs 50%, p=0.4). There was no increase in time to admission from symptoms (both median 1 day, p=0.7), or surgery from admission (both median 1 day, p=0.9). The proportion of grades 2-3 cholecystitis was not higher during the pandemic (46% vs 44%, p=0.9). The median time to elective surgery increased (184 days vs 130 days, p=0.04), but there was no increase in new gallstone complications (35% vs 39%, p=0.3). CONCLUSION: Emergency surgery for cholecystitis was not impacted by the pandemic in Sweden. Patients were more comorbid but did not have more severe cholecystitis nor was there a delay in seeking care. Fewer patients non-operatively managed had elective surgery within 6 months of their initial diagnosis but there was no corresponding increase in gallstone complications.

Surgery for acute cholecystitis in severely comorbid patients: a population-based study on acute cholecystitis.

BACKGROUND: International guidelines recommend emergency cholecystectomy for acute cholecystitis in patients who are healthy or have mild systemic disease (ASA1-2). Surgery is also an option for patients with severe systemic disease (ASA3) in clinical practice. The study aimed to investigate the risk of complications in ASA3 patients after surgery for acute cholecystitis. METHOD: 1 634 patients treated for acute cholecystitis at three Swedish centres between 2017 and 2020 were included in the study. Data was gathered from electronic patient records and the Swedish registry for gallstone surgery, Gallriks. Logistic regression was used to assess the risk of complications adjusted for confounding factors: sex, age, BMI, Charlson comorbidity index, cholecystitis grade, smoking and time to surgery. RESULTS: 725 patients had emergency surgery for acute cholecystitis, 195 were ASA1, 375 ASA2, and 152 ASA3. Complications occurred in 9% of ASA1, 13% of ASA2, and 24% of ASA3 patients. There was no difference in 30-day mortality. ASA3 patients stayed on average 2 days longer after surgery. After adjusting for other factors, the risk of complications was 2.5 times higher in ASA3 patients than in ASA1 patients. The risk of complications after elective surgery was 5% for ASA1, 13% for ASA2 and 14% for ASA3 patients. Regardless of ASA 18% of patients treated non-operatively had a second gallstone complication within 3 months. CONCLUSION: Patients with severe systemic disease have an increased risk of complications but not death after emergency surgery. The risk is lower for elective procedures, but a substantial proportion will have new gallstone complications before elective surgery. TRIAL REGISTRATION: Not applicable.

rprimer: an R/bioconductor package for design of degenerate oligos for sequence variable viruses.

BACKGROUND: This paper presents a new R/Bioconductor package, rprimer, for design of degenerate oligos and PCR assays for sequence variable viruses. A multiple DNA sequence alignment is used as input data, while the outputs consist of comprehensive tables (data frames) and dashboard-like plots. The workflow can be run directly from the R console or through a graphical user interface (Shiny application). Here, rprimer is demonstrated and evaluated by using it to design two norovirus genogroup I (GI) assays: one RT-qPCR assay for quantitative detection and one RT­PCR assay for Sanger sequencing and polymerase-capsid based genotyping. RESULTS: The assays generated were evaluated using stool samples testing positive for norovirus GI. The RT-qPCR assay accurately amplified and quantified all samples and showed comparable performance to a widely-used standardised assay, while the RT-PCR assay resulted in successful sequencing and genotyping of all samples. Merits and limitations of the package were identified through comparison with three similar freely available software packages. Several features were comparable across the different tools, but important advantages of rprimer were its speed, flexibility in oligo design and capacity for visualisation. CONCLUSIONS: An R/Bioconductor package, rprimer, was developed and shown to be successful in designing primers and probes for quantitative detection and genotyping of a sequence-variable virus. The package provides an efficient, flexible and visual approach to degenerate oligo design, and can therefore assist in virus research and method development.

Nurse Decision Making and Attitudes About Circuit Disconnection During Ventilator Therapy at a Swedish Neonatal Intensive Care Unit.

BACKGROUND: There are many challenges to providing care to infants in need of ventilator therapy. Yet, few studies describe the practical handling of the ventilator circuit during nursing care. PURPOSE: To describe neonatal intensive care unit (NICU) nurses' decision making regarding whether or not to disconnect the ventilator circuit when changing the infant's position and to investigate the grounds for their decisions. METHODS: A descriptive questionnaire study with both quantitative and qualitative elements was conducted. In 2015, a convenience sample of nurses working in an NICU completed a questionnaire including both closed-ended and open-ended, free-text questions. Answers to the closed-ended questions were analyzed with descriptive statistics, whereas answers to the free-text questions were analyzed using qualitative content analysis. RESULTS: Nurses' decisions on whether to disconnect or keep the ventilator circuit closed were based on the infant's needs for ventilator support. The nurses gave several reasons and motivations both for why they disconnected the circuit and for why they did not. The handling of the circuit and the reasons and motivations given were inconsistent among the nurses. IMPLICATIONS FOR PRACTICE: This study highlights the need for continuous, repetitive education and training for NICU nurses, as well as demonstrating the importance of clear and distinct guidelines and working methods regarding the care of infants on ventilator support. IMPLICATIONS FOR RESEARCH: Future research should continue to find ways of working and handling an infant on ventilator support that are least harmful to the infant.

Suboptimal behaviour and knowledge regarding overnight glycaemia in adults with type 1 diabetes is common.

BACKGROUND: In people with type 1 diabetes (T1D), nocturnal hypoglycaemia (NH) can be slept through and can cause seizures, arrhythmias and death. Hypoglycaemia avoidance can induce hyperglycaemia and ketosis. Patient behaviour impacts clinical outcomes and may be changed by education. AIM: To develop and utilise a survey to evaluate patient self-management of overnight glycaemia in adults with T1D. METHODS: Adults with T1D attending two Australian tertiary referral diabetes clinics completed a survey about their diabetes self-management and glycaemic control, including responses to hypothetical pre-bed blood glucose (BG) levels (4-20 mmol/L). Statistical analyses included t-tests, Chi square tests and ANOVA with significance considered at P < 0.05. RESULTS: There were 205 participants (103 females), with a mean (SD) age of 41 (17) years, T1D duration of 20 (16) years, HbA1c of 7.8(1.4)%, (61.3(8.2) mmol/mol), 38% on insulin pump therapy (CSII) and 36% with impaired hypoglycaemia awareness (IHA). Mean (SD) number of BG tests/day was 5.4 (2.7). Patients set higher BG target levels at bedtime and overnight: 7.5(1.4) and 7.1(1.3) mmol/L, respectively, compared to daytime (6.9(1.0); P < 0.0001 and P = 0.002 respectively). Only 36% of participants reported treating nocturnal hypoglycaemia (NH) with the recommended refined, then complex, carbohydrate. Only 28% of patients made safe choices in all bedtime BG scenarios, with higher rates for CSII users, P = 0.0005. Further education was desired by 32% of respondents, with higher rates in those with (44%) versus without IHA (25%), P = 0.006. CONCLUSIONS: Many adults with T1D have suboptimal knowledge and behaviour regarding overnight BG self-management. A survey, piloted herein, may facilitate the identification of patients who could benefit from further education.

Parents experiences of discharge readiness from a Swedish neonatal intensive care unit.

AIM: The aim of this study was to describe how parents experienced the support at, and preparation for discharge from, the NICU and how they experienced the first time at home. DESIGN: A qualitative design with quantitative elements was applied. METHODS: A questionnaire study. Data were analysed using qualitative content analysis with quantitative elements. RESULTS: The majority of included parents felt adequately prepared for going home and sufficiently supported during the first period home. Negative experiences were related to lack of time for preparation, lack of support and information, especially about the infant's food intake, breastfeeding, and tube feeding, and lack of follow-up counselling post discharge. This study supports that parents who are closely involved in their infant's care at the NICU, and who stay with the infant at the NICU around the clock, are well prepared for the transition to home.

A randomised, double blind trial of N-Acetylcysteine for hearing protection during stapes surgery.

BACKGROUND: Otosclerosis is a disorder that impairs middle ear function, leading to conductive hearing loss. Surgical treatment results in large improvement of hearing at low sound frequencies, but high-frequency hearing often suffers. A likely reason for this is that inner ear sensory cells are damaged by surgical trauma and loud sounds generated during the operation. Animal studies have shown that antioxidants such as N-Acetylcysteine can protect the inner ear from noise, surgical trauma, and some ototoxic substances, but it is not known if this works in humans. This trial was performed to determine whether antioxidants improve surgical results at high frequencies. METHODS: We performed a randomized, double-blind and placebo-controlled parallel group clinical trial at three Swedish university clinics. Using block-stratified randomization, 156 adult patients undergoing stapedotomy were assigned to intravenous N-Acetylcysteine (150 mg/kg body weight) or matching placebo (1:1 ratio), starting one hour before surgery. The primary outcome was the hearing threshold at 6 and 8 kHz; secondary outcomes included the severity of tinnitus and vertigo. FINDINGS: One year after surgery, high-frequency hearing had improved 2.7 ± 3.8 dB in the placebo group (67 patients analysed) and 2.4 ± 3.7 dB in the treated group (72 patients; means ± 95% confidence interval, p = 0.54; linear mixed model). Surgery improved tinnitus, but there was no significant intergroup difference. Post-operative balance disturbance was common but improved during the first year, without significant difference between groups. Four patients receiving N-Acetylcysteine experienced mild side effects such as nausea and vomiting. CONCLUSIONS: N-Acetylcysteine has no effect on hearing thresholds, tinnitus, or balance disturbance after stapedotomy. TRIAL REGISTRATION: ClinicalTrials.gov NCT00525551.

Effects of pulse-delivered inhaled nitric oxide administration on pulmonary perfusion and arterial oxygenation in dorsally recumbent isoflurane-anesthetized horses.

OBJECTIVE: To image the spatial distribution of pulmonary blood flow by means of scintigraphy, evaluate ventilation-perfusion (VA/Q) matching and pulmonary blood shunting (Qs/Qt) by means of the multiple inert gas elimination technique (MIGET), and measure arterial oxygenation and plasma endothelin-1 concentrations before, during, and after pulse-delivered inhaled nitric oxide (PiNO) administration to isoflurane-anesthetized horses in dorsal recumbency. ANIMALS: 3 healthy adult Standardbreds. PROCEDURES: Nitric oxide was pulsed into the inspired gases in dorsally recumbent isoflurane-anesthetized horses. Assessment of VA/Q matching, Qs/Qt, and Pao2 content was performed by use of the MIGET, and spatial distribution of pulmonary blood flow was measured by perfusion scintigraphy following IV injection of technetium Tc 99m-labeled macroaggregated human albumin before, during, and 30 minutes after cessation of PiNO administration. RESULTS: During PiNO administration, significant redistribution of blood flow from the dependent regions to the nondependent regions of the lungs was found and was reflected by improvements in VA/Q matching, decreases in Qs/Qt, and increases in Pao2 content, all of which reverted to baseline values at 30 minutes after PiNO administration. CONCLUSIONS AND CLINICAL RELEVANCE: Administration of PiNO in anesthetized dorsally recumbent horses resulted in redistribution of pulmonary blood flow from dependent atelectatic lung regions to nondependent aerated lung regions. Because hypoxemia is commonly the result of atelectasis in anesthetized dorsally recumbent horses, the addition of nitric oxide to inhaled gases could be used clinically to alleviate hypoxemia in horses during anesthesia.

Maternal anxiety following delivery, early infant temperament and mother's confidence in caregiving.

A mother's emotional state is a well-known environmental factor that relates to the development of infant temperament. However, some relevant issues have not yet been fully explored. The current study examines the influence of determined maternal, contextual and perinatal variables on infant temperament and the mother's confidence in caregiving during the first weeks of life. A prospective study was carried out in three-hundred and seventeen newborns and their mothers. Perinatal and socio-demographic variables were recorded. The mother's anxiety and mood were measured in the first days after childbirth and again at 8 weeks. Infant temperament and the mother's confidence in caregiving were measured at 8 weeks. A mother's postpartum anxiety following delivery was the best predictor for most of the variables of infant temperament, including infant irritability (p = .001), and other child variables like infant sleep (p = .0003) and nursing difficulty (p = .001). Contextual-family variables, such as the number of people at home (p = .0024) and whether they were primiparous (p = .001), were the best predictors for a mother's confidence in caregiving. Support was found for an early effect of maternal anxiety on infant temperament. The results have clinical implications for postnatal psychological interventions.

Planned vaginal delivery versus planned caesarean section: short-term medical outcome analyzed according to intended mode of delivery.

OBJECTIVE: To compare maternal medical outcome after planned vaginal delivery and planned Caesarean section. METHODS: We conducted a prospective cohort study of healthy primiparous women in Stockholm, Sweden, who were either scheduled for a planned Caesarean section (for breech presentation or at maternal request) or admitted for a vaginal delivery. Data were analyzed according to intended mode of delivery. RESULTS: A total of 541 women were included in the study; of these, 247 had a Caesarean section and 294 a vaginal delivery. There were sociodemographic differences between the groups. No difference in mean estimated blood loss or rate of infection was found. Complications in the planned Caesarean section group were lower than previously reported. The difference in estimated blood loss between women undergoing planned Caesarean section and women who had a vaginal delivery was not more than 7%. Morbidity in the planned vaginal delivery group was mostly due to operative interventions. The Caesarean section group had a longer hospital stay than women who delivered vaginally. CONCLUSION: We found no difference in short-term medical outcomes between primiparous women undergoing planned Caesarean section and those undergoing planned vaginal delivery after analysis according to the intended mode of delivery.

Factors independently related to a negative birth experience in first-time mothers.

OBJECTIVE: To evaluate the impact of personality, socio-demographic and obstetric factors on birth experience in a cohort of healthy first-time mothers. A second aim was to compare a visual analogue scale and Wijma Delivery Experience Questionnaire B as instruments evaluating birth experience. MATERIAL AND METHODS: In total, 541 women were prospectively followed from the end of pregnancy until 9 months postpartum. Socio-demographic, psychological and somatic data as well as personality characteristics were collected. Experience of delivery was measured with a visual analogue scale and with Wijma Delivery Experience Questionnaire B. Sixty-three variables were considered to be associated with the experience of delivery. Nineteen of these, found to be significantly associated with birth experience, were entered in a logistic regression analysis. RESULTS: The logistic regression analysis showed that a memory of pain during birth, high usage of analgesics postpartum, long hospital stay, worry in late pregnancy and high self-rated irritation were related to a more negative birth experience, while high confidence in the midwife was related to a more positive experience. The correlation between experiences of delivery rated by Wijma Delivery Experience Questionnaire B and the visual analogue scale was 0.52 (p < 0.001). CONCLUSION: To help women to cope with pain during and after birth could be an important factor to improve birth experience. Even though the correlation between the visual analogue scale and Wijma Delivery Experience Questionnaire B was moderate, the visual analogue scale could be used as a simple method for screening of birth experience.

Group versus individual cognitive treatment for Obsessive-Compulsive Disorder: changes in non-OCD symptoms and cognitions at post-treatment and one-year follow-up.

Current cognitive approaches postulate that obsessions and compulsions are caused and/or maintained by misinterpretations about their meaning. This assumption has led to the development of cognitive therapeutic (CT) procedures designed to challenge the dysfunctional appraisals and beliefs patients have about their obsessions. Nonetheless, few studies have compared the efficacy of individual and group CT in changing the dysfunctional cognitions that hypothetically underlie Obsessive-Compulsive Disorder (OCD). In this study, 44 OCD patients were assigned to individual (n=18) or group (n=24) CT. Sixteen completed the individual CT, and 22 completed the group CT. The effects of the two CT conditions on depression and worry tendencies were comparable. Individual treatment was more effective than group treatment in decreasing scores on dysfunctional beliefs (responsibility, overestimation of threat, and intolerance to uncertainty) and the use of suppression as a thought control strategy. The post-treatment changes were maintained one year later. The correlations between symptom improvement (OCD severity change) and belief changes were moderate: in the individual treatment the greatest associations were with beliefs about thoughts (importance and control), whereas in the group treatment the greatest associations were with beliefs related to anxiety in general (threat overestimation and intolerance to uncertainty).

Cognitive therapy for autogenous and reactive obsessions: clinical and cognitive outcomes at post-treatment and 1-year follow-up.

This study provides data about the differential effectiveness of cognitive therapy (CT) for obsessive-compulsive disorder (OCD) symptom presentation. Two OCD manifestations, autogenous and reactive, are considered. Seventy OCD patients started CT; 81.40% completed it and 72.85% were available 1 year later. Fifteen of the 57 treatment completers had autogenous obsessions, whereas 33 had reactive obsessions. Nine patients had both obsession modalities. Reactive patients were more severe, as they scored higher on thought suppression and on the dysfunctional beliefs of intolerance to uncertainty and perfectionism. Autogenous patients scored higher on the over-importance of thoughts beliefs. Although CT was effective in reducing OCD severity and the ascription to dysfunctional beliefs and neutralizing strategies in both the autogenous and the reactive patients, a significantly better outcome was observed for the autogenous patients, both at post-treatment (with 73.33% recovering versus 33.33% for reactives) and 1 year later.

Group versus individual cognitive treatment for obsessive-compulsive disorder: Changes in severity at post-treatment and one-year follow-up.

BACKGROUND: Very few studies have compared the efficacy of individual and group cognitive behaviour therapy (CBT) for the treatment of Obsessive-Compulsive Disorder (OCD) by taking into consideration the change in OCD severity in both the short and long term. AIMS: To conduct an open trial of individual versus group CBT for OCD, comparing the clinical and statistically significant changes in severity both at post-treatment and one year later. METHOD: Forty-two OCD subjects were assigned to individual (n = 18) or group CBT (n = 24, in four groups). Sixteen and 22 subjects completed the treatment in the individual and group conditions, respectively. The Yale-Brown Obsessive Compulsive Scale was recorded at pre-treatment, post-treatment and at the one-year follow-up. RESULTS: At the end of treatment, the clinically significant change was comparable for the two treatment conditions and remained stable at the one-year follow-up. Of the 16 participants who completed the individual CBT treatment, 68.75% were classified as recovered at post-treatment, compared to 40.9% of those receiving group CBT. At follow-up the rate of recovery decreased to 62.5% in individual CBT and to 31.8% in group CBT. CONCLUSIONS: Group CBT is effective in decreasing OCD severity. The post-treatment changes were maintained one year later. Nevertheless, these changes were higher in the individual delivery of CBT.

First-time mothers and changes in personality in relation to mode of delivery.

AIM: This paper is a report of a study conducted to examine changes in personality from late pregnancy to early motherhood in primiparas having vaginal or caesarean deliveries. BACKGROUND: Birth of the first child is a major life event, possibly influencing personality. The physiological and emotional processes that start in pregnant women have a major impact on the evolving mother-child relationship. Knowledge about changes in personality during pregnancy and motherhood is scarce. METHOD: A prospective, group-comparative cohort study including 314 healthy primiparas having either 'caesarean section on maternal request' (n = 74) or 'spontaneous vaginal delivery group' (n = 240). The self-report inventory Karolinska Personality Scales was mailed to participants at 37-39 gestational weeks in pregnancy and 9 months after delivery. Data were collected from January 2003 to June 2006. RESULTS: All mean values of the personality variables were within the normal range. There was a statistically significant increase in Impulsivity (P = 0.046) and decrease in Socialization (P = 0.004). The scores developed differently depending on mode of delivery. Thus, women in the vaginal delivery group increased their scores on the Psychic anxiety and Guilt scales, while those in the caesarean delivery group decreased their scores. Although women in both groups became more impulsive and less socialized, personality remained comparatively stable in the transition from late pregnancy to motherhood. CONCLUSION: As interactive therapeutic midwife/client relationships and maternal/social role preparation have been shown to have a great effect on progress in becoming a mother, knowledge about how personality may affect this process is important so that healthcare professionals can attempt to reduce women's anxiety levels during pregnancy.

Cesarean section and risk of pelvic organ prolapse: a nested case-control study.

OBJECTIVE: The objective of the study was to investigate the association between cesarean section and pelvic organ prolapse. STUDY DESIGN: The Swedish Hospital Discharge Registry was used to identify women with an inpatient diagnosis of pelvic organ prolapse, and the data were linked to the Swedish Medical Birth Registry. Odds ratios (ORs) were estimated using the Mantel-Haenzsel procedure and Cox analyses to estimate hazard ratios. The material was stratified for age and parity. RESULTS: A total of 1.4 million women were investigated. A strong and statistically significant association between cesarean section and pelvic organ prolapse was found. Adjusted OR was 0.18 (0.16-0.20) and overall hazard ratio 0.20 (0.18-0.22). CONCLUSION: Cesarean section is associated with a lower risk of pelvic organ prolapse than vaginal delivery.

Monolithic GaAs/InGaP nanowire light emitting diodes on silicon.

Vertical light emitting diodes (LEDs) based on GaAs/InGaP core/shell nanowires, epitaxially grown on GaP and Si substrates, have been fabricated. The devices can be fabricated over large areas and can be precisely positioned on the substrates, by the use of standard lithography techniques, enabling applications such as on-chip optical communication. LED functionality was established on both kinds of substrate, and the devices were evaluated in terms of temperature-dependent photoluminescence and electroluminescence.

Planned cesarean section versus planned vaginal delivery: comparison of lower urinary tract symptoms.

We compared the prevalence and risk of lower urinary tract symptoms in healthy primiparous women in relation to vaginal birth or elective cesarean section 9 months after delivery. We performed a prospective controlled cohort study including 220 women delivered by elective cesarean section and 215 by vaginal birth. All subjects received an identical questionnaire on lower urinary tract symptoms in late pregnancy, at 3 and 9 months postpartum. Two hundred twenty subjects underwent elective cesarean section, and 215 subjects underwent vaginal delivery. After childbirth, the 3-month questionnaire was completed by 389/435 subjects (89%) and the 9-month questionnaire by 376/435 subjects (86%). In the vaginal delivery cohort, all lower urinary tract symptoms increased significantly at 9 months follow-up. When compared to cesarean section, the prevalence of stress urinary incontinence (SUI) after vaginal delivery was significantly increased both at 3 (p < 0.001) and 9 months (p = 0.001) follow-up. In a multivariable risk model, vaginal delivery was the only obstetrical predictor for SUI [relative risk (RR) 8.9, 95% confidence interval (CI) 1.9-42] and for urinary urgency (RR 7.3 95% CI 1.7-32) at 9 months follow-up. A history of SUI before pregnancy (OR 5.2, 95% CI 1.5-19) and at 3 months follow-up (OR 3.9, 95% CI 1.7-8.5) were independent predictors for SUI at 9 months follow-up. Vaginal delivery is associated with an increased risk for lower urinary tract symptoms 9 months after childbirth when compared to elective cesarean section.

The relationship of personality traits to substance abuse in patients with bipolar disorder.

PURPOSE: The aim of this study is to determine if personality traits contribute to the likelihood of substance abuse in Bipolar Disorder (BD). SUBJECTS/MATERIALS AND METHODS: Fifty-nine patients meeting DSM-IV criteria for BD: 20 without any history of Substance Related Disorder (SRD), 21 with a lifetime history of SRD but without current SRD, and 18 with current SRD. Patients filled out the TCI, the differences were analyzed by ANOVA and the likelihood was obtained by Multinomial Logistic Regression. RESULTS: Only Novelty Seeking (NS) is statistically different between the groups. Patients with BD with current SRD have higher rates in NS than those with past SRD, and those without a history of SRD. NS was confirmed as a predicting variable, both to current SRD (OR [CI 95%]=1.039/1.351; p=0.011) and past SRD (OR [CI 95%]=1.004/1.277; p=0.042) on patients with BD. DISCUSSION: The results shown would appear to confirm the relationship of NS with the SRD, so long as there is no clear evidence that indicates the association of NS with BD. CONCLUSIONS: There appears a greater predisposition to develop SRD in those patients with a higher degree of NS. The use of the Cloninger's TCI could be used in BD to determine the risk of developing an SRD. Early detection might help improve prognosis.

Chromosomal mosaicism mitigates stigmata and cardiovascular risk factors in Turner syndrome.

OBJECTIVE: To study genotype-phenotype correlations in Turner syndrome (TS) regarding body composition, cardiovascular risk factors, stigmata and age at diagnosis vs. degree of mosaicism estimated as the percentage of 45,X and 46,XX cells. METHODS: One hundred and twenty-six TS women, mean age 31 years, were examined by three specialists, who reported stigmata independent of each other. Dual energy X-ray absorptiometry (DXA) was used to measure bone mineral density (BMD). The karyotype was blinded. Fluorescence in situ hybridization (FISH) was performed on buccal cells. A random population sample served as controls. RESULTS: Forty-four per cent exhibited a 45,X karyotype and 56% a second-cell line, while 27% of all had a 45,X/46,XX mosaicism. Five 45,X cases with a conventional karyotype were 45,X/46,XX mosaic according to FISH. At diagnosis, 45,X cases were younger (P < 0.05) and had more stigmata per person (P < 0.01) than the mosaics. TS with marker chromosome X or Y, iso or ring, did not differ from 45,X in this aspect. The mosaics had higher BMD and SHBG and lower total cholesterol and FSH than TS with 45,X and did not differ compared with controls in terms of body mass index (BMI), waist/hip ratio, BMD, blood pressure, cholesterol, triglycerides, SHBG, diabetes or osteoporosis. The number of stigmata correlated positively to BMI, waist/hip ratio, cholesterol and %45,X and inversely to height and %46,XX according to FISH. CONCLUSIONS: Mosaicism seems to mitigate the TS phenotype and the cardiovascular risk factor profile. Mosaics were diagnosed 8 years later than 45,X cases. This emphasizes the necessity for a stricter genotype categorization not only in the clinic but also in research on TS than previously adopted.