Upsala journal of medical sciences最新文献

Background: Open-angle glaucoma (OAG) is a leading cause of irreversible blindness. There are no prospective studies on the risk of developing blindness in both eyes in individuals with definite OAG.

Methods: A total of 354 patients with newly diagnosed OAG, who had participated in four studies conducted at the Eye Department in Tierp, Sweden, from 1979 to 2006, were included in the investigation. Using the World Health Organization's criteria for blindness, medical records, glaucoma case records, and visual fields were reviewed to identify patients who developed bilateral blindness. Incidence proportions and incidence rates were estimated. To assess potential risk factors for blindness, standardised morbidity ratios (SMRs) were calculated. The effects of age and sex were also analysed using Cox proportional hazard models.

Results: By the end of the study in August 2023, 33 cases of blindness caused by OAG had been found, corresponding to an incidence proportion of 9.3% (95% confidence interval [CI]: 6.5-12.8%). Within the first 20 years, 29 cases were detected, yielding a proportion of 8.2% (95% CI: 5.5-11.6%). The incidence rate was estimated to be 8.6 per 1,000 person-years (95% CI: 5.9-12.6 per 1,000 person-years). Glaucoma-related blindness was associated with male sex (SMR 2.33; 95% CI: 1.13-4.80). The hazard ratio was doubled for every 5 year of increasing age (2.21; 95% CI: 1.60-3.05).

Conclusion: In this study of blindness in newly diagnosed OAG in a Swedish population, approximately one in 10 patients progressed to bilateral blindness caused by the disease. Old age and male sex were identified as significant risk factors.

Background: Tenecteplase is increasingly used off-label as an alternative to alteplase for ischemic stroke thrombolysis. Our aim was to evaluate the safety of tenecteplase versus alteplase in comprehensive real-world data.

Methods: We compared the outcomes for adult patients with acute ischemic stroke treated with alteplase or tenecteplase, registered in the Swedish Stroke Register between January 1, 2018 and December 31, 2020. The primary outcome was symptomatic intracerebral hemorrhage or death during hospital stay. Secondary outcomes were death within 90 days, modified Rankin Scale at 90 days, and mean door-to-needle time (DNT).

Results: There were no significant differences in age or risk factors between 6,560 patients (45% women, mean age 74) treated with alteplase and 888 patients (43% women, mean age 74) treated with tenecteplase, although tenecteplase was more commonly used in non-university hospitals, hospitals with high use of thrombolysis, and in wake-up strokes. Tenecteplase was not non-inferior compared to alteplase in terms of symptomatic intracerebral hemorrhage or death during hospital stay (13.2% vs. 10.7%, absolute risk difference [95% confidence interval, CI] 2.5% [0.1 to 4.9%], adjusted odds ratio 1.44 [1.07-1.94]). There were no significant differences in functional outcome or death at 90 days, but tenecteplase was associated with decreased DNT (mean difference 9 min).

Conclusion: Tenecteplase was not non-inferior in safety outcome, although associated with decreased DNT. As accumulating randomized controlled studies support the non-inferiority of tenecteplase regarding functional outcome, it is important to keep scrutinizing the safety outcomes.

Background: The spread of sexually transmitted infections (STIs) is an ongoing public health challenge, and awareness of risk factors is essential for designing effective preventive interventions. This study aimed to assess self-reported STI occurrences and identify risk factors and sexual behaviors associated with STIs among female university students.

Methods: This is a cross-sectional, online questionnaire study, including 384 female university students seeking contraceptive counseling at a gynecology clinic in Uppsala, Sweden, and reporting having had sex. Associated risk factors and behaviors were assessed by comparing those who reported STIs and those who did not.

Results: The mean age of participants was 22.8 years. Seventy-eight (20%) had contracted at least one STI, with seven (9%) experiencing multiple infections. Seventy-three (94%) reported first-date sexual activity without a condom among STI experienced. Chlamydia trachomatis was the most common STI pathogen (68% of all infections), followed by Herpes simplex virus (18%) and Mycoplasma genitalium (13%). Behavioral factors associated with self-reported STIs were first-date sexual activity without a condom, not using condom at first intercourse, younger age at first intercourse, a higher number of sexual partners overall and in the last 12 months, experience of anal sex, dating app usage, and regretting sexual activity after substance use (P < 0.003 for all).

Conclusions: Condom use was low among the respondents, and STIs were common regardless of the high level of education in this group. Contraceptive counseling needs to highlight the importance of condom use in addition to contraceptive efficacy. It is also essential to consider the specific risk factors and behaviors prevalent among young adults to reduce the spread of STIs.

Background: Myotonic dystrophy type 1 (DM1) is a monogenetic disease affecting many organs. Gastrointestinal symptoms are prevalent and of considerable consequences for affected individuals. The life expectancy is shortened and the objective of the study is to evaluate if gastrointestinal symptoms can predict the outcome of the disease.

Method: Fifty-one patients with DM1 were interviewed regarding symptoms from the gastrointestinal tract in the mid-1990s. Survival of all patients was evaluated in 2023 and the impact of symptoms on survival was assessed.

Results: At the beginning of the study, the mean age was 35.9 years, (median 37.0, 9-63). At the end of the study 47 out of the 51 patients were deceased at a mean age of 53.7 years (median 55.7, 32.5-79.0). Patients with the congenital form of DM1 (n = 6) died at an age of 46.0 years (median 45.2, 40.0-53.6). There was no correlation between the gastrointestinal symptoms and survival.

Conclusion: Albeit prevalent and of considerable clinical consequence, gastrointestinal symptoms are not correlated to survival in myotonic dystrophy type 1.

Background: The heterogeneous features of enamel renal syndrome (ERS) make diagnosis and treatment challenging. The main symptoms are disturbed amelogenesis and nephrocalcinosis. Bi-allelic likely pathogenic (LP) or pathogenic (P) variants in FAM20A have been associated with the syndrome since 2012. Affected patients often receive extensive dental treatment because of deviant orofacial morphology. However, knowledge about long-term prognosis and treatment guidelines are still lacking. The complex nature of ERS might endanger both dental and general health. The purpose of this article is to highlight the risks of overlooking the symptoms of the syndrome, and to discuss management strategies, surveillance and prognosis.

Case presentation: We report the management of a case with suspected ERS after initial dental treatment elsewhere with no adjustment for the syndrome. Dental treatment was revised and followed for 8 years. Complementary medical examinations were conducted, and ERS was genetically confirmed, revealing homozygosity for a LP c.755_757del, p.(Phe252del) variant in FAM20A. The nephrological investigation revealed medullary calcium deposits, normal renal function and hypophosphatemia. Urine analysis revealed hypocitraturia and hypocalciuria. Accordingly, the patient now medicates with potassium citrate to decrease the risk of progressive renal stone formation.

Conclusion: We herein describe a patient with confirmed ERS with an 8-year follow-up. Diagnostic delay until adulthood led to complicated dental treatment. The results of nephrological investigations are presented. The importance of dental and medical multidisciplinary management in syndromic disorders affecting the formation of the enamel is also exemplified. The dental prognosis after rehabilitation is likely affected by anatomical variations and patient cooperation. The prognosis for renal function seems to be good. However, lifelong surveillance of renal function is recommended.

Registration: The ethics committee in Uppsala, Sweden, determined that ethical approval was not necessary in this case (2019-04835). Informed consent was obtained from the participant in writing and is documented in the medical records.

Background: Trigger finger, or stenosing tendovaginitis, is one of the most common causes of hand disability, where a finger or thumb painfully snaps and locks due to a tendon-sheath size mismatch at the A1 pulley. The exact aetiology of trigger finger is unknown, though it is associated with factors like diabetes, rheumatic disease and carpal tunnel syndrome. The main purpose of this prospective study was to explore clinical characteristics and comorbidities in a cohort of 139 patients who underwent surgery for trigger finger and find factors of importance for the outcome 1 year postoperatively.

Methods: Pain, range of motion, hand function evaluated by the Disabilities of the Arm Shoulder and Hand questionnaire as well as Quinnell grade of triggering were examined preoperatively. Symptom duration, working status, medical history and comorbidities at baseline were also noted. Further, range of motion was evaluated 3 months after surgery, pain and hand function were evaluated 3 and 12 months after surgery. An outcome scale with three levels was defined. The development of any new comorbidities was monitored during an extended postoperative observation period, with a mean duration of 70 months (range: 56-88 months).

Results: Poor outcome was strongly associated with younger age (P = 0.0009), a high level of preoperative pain in the operated hand (P = 0.0027), psoriatic arthritis (P = 0.021) and atopic disease (P = 0.028; odds ratio [OR]: 3.87, 95% confidence interval [CI]: 1.15-13.04). A low range of motion preoperatively did not affect the outcome. Carpal tunnel syndrome was the most common comorbidity but did not affect the outcome. A good preoperative range of motion, good hand function and less pain were associated with better outcomes.

Conclusion: Younger age, a high level of preoperative pain, psoriatic arthritis and atopic disease were factors associated with a worse outcome of trigger finger surgery. Pain and disability decreased 3 months postoperatively and continued to decrease between 3 and 12 months.

Background: Infertility along with fertility treatments has been reported to have a devastating effect on the well-being of the individuals involved as well as their relationship. So far, the studies exploring the impact on the relationship have mainly focused on heterosexual couples facing infertility and undergoing treatment. There is, therefore, a lack of data on the potential role of sexual orientation, gamete origin, as well as treatment success on the risk of separation after fertility treatment. The purpose of this study was, thus, to explore whether sexual orientation, donation treatment, and fertility success affected the relationship well-being and to explore various separation-related aspects.

Methods: We have performed a prospective cohort study of heterosexual and homosexual couples undergoing fertility treatment with autologous and donated gametes in Sweden and followed them for up to 10 years after receiving fertility treatment. In the current follow-up study, 660 individuals have been included.

Results: Almost 39% of lesbian couples participating reported having separated as opposed to 11-17% of heterosexual couples undergoing treatment with own or donated gametes. Neither background factors nor treatment success protected against separation. By using the relationship satisfaction ENRICH tool, we were able to demonstrate that dissatisfaction of one of the lesbian spouses or heterosexual spouses undergoing oocyte donation increased significantly the risk of separation 8-10 years after treatment commencement.

Conclusion: The findings can be used by fertility clinics to provide relationship tools to the treated couples in order to help them nurture their relationship and decrease the risk of separation in the long run.

Background: Diffuse astrocytomas preferentially infiltrate eloquent areas affecting the outcome. A preoperative understanding of isocitrate dehydrogenase (IDH) status may offer opportunities for specific targeted therapies impacting treatment management. The aim of this study was to analyze clinical, topographical, radiological in WHO 2 astrocytomas with different IDH status and the long-term patient's outcome.

Methods: A series of confirmed WHO 2 astrocytoma patients (between 2005 and 2015) were retrospectively analyzed. MRI sequences (FLAIR) were used for tumor volume segmentation and to create a frequency map of their locations into the Montreal Neurological Institute (MNI) space. The Brain-Grid (BG) system (standardized radiological tool of intersected lines according to anatomical landmarks) was used as an overlay for infiltration analysis of each tumor. Long-term follow-up was used to perform a survival analysis.

Results: Forty patients with confirmed IDH status (26 IDH-mutant, IDHm/14 IDH-wild type, IDHwt) according to WHO 2021 classification were included with a mean follow-up of 7.8 years. IDHm astrocytomas displayed a lower number of BG-voxels (P < 0.05) and were preferentially located in the anterior insular region. IDHwt group displayed a posterior insular and peritrigonal location. IDHwt group displayed a shorter OS compared with IDHm (P < 0.05), with the infiltration of 7 or more BG-voxels as an independent factor predicting a shorter OS.

Conclusions: IDHm and IDHwt astrocytomas differed in preferential location, number of BG-voxels and OS at long follow-up time. The number of BG-voxels affected the OS in IDHwt was possibly reflecting higher tumor invasiveness. We encourage the systematic use of alternative observational tools, such as gradient maps and the Brain-Grid analysis, to better detect differences of tumor invasiveness in diffuse low-grade gliomas subtypes.

Background and aim: As the spleen plays a significant role in immunity, the aim was to investigate the associations of different body composition markers derived from various sources with spleen volume in a general population sample.

Materials and methods: Cross-sectional data of 1095 individuals (570 women; 52%) aged between 30 and 90 years were collected in the Study of Health in Pomerania (SHIP-START-2). We measured spleen volume by magnetic resonance imaging (MRI).Body composition markers were derived from classic anthropometry, bioelectrical impedance analysis, including absolute fat mass (FM) and fat-free mass (FFM), as well as from MRI, including visceral adipose tissue (VAT), subcutaneous adipose tissue (SAT), and liver fat content. Sex-stratified-adjusted linear regression models were used to analyze the associations of body composition markers with spleen volumes.

Results: We observed positive associations of body mass index, body weight, waist circumference, hip circumference, waist-to-height ratio, absolute FM, absolute FFM, and VAT and SAT with spleen volume in men and women. An 8.12 kg higher absolute FFM was associated with a 38.4 mL (95% confidence interval [CI]: 26.7-50.1) higher spleen volume in men and a 5.21 kg higher absolute FFM with a 42.6 mL (95% CI: 26.2-59.0) higher spleen volume in women.

Conclusion: Our findings indicate that obesity-related body composition markers and FFM are associated with a higher spleen volume. Particularly, higher absolute FFM showed a strong association with a larger spleen volume in both men and women. Further studies are warranted to understand the clinical significance of body composition markers on large spleen volume.