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Elber Yuksel Aydin, 1, 2 Andrea Schneider, 1, 3 Dragana Protic, 1, 4 Jun Yi Wang, 1, 5 Veronica Martínez-Cerdeño, 1, 6 Flora Tassone, 1, 7 Hiu-Tung Tang, 7 Susan Perlman, 8 Randi J Hagerman 1, 3 1Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Sacramento, CA, USA; 2Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey; 3Department of Pediatrics, University of California Davis School of Medicine, Sacramento, CA, USA; 4Department of Pharmacology, Clinical Pharmacology and Toxicology, School of Medicine, University of Belgrade, Belgrade, Serbia; 5Center for Mind and Brain, University of California Davis School of Medicine, Sacramento, CA, USA; 6Department of Pathology and Laboratory Medicine, Institute for Pediatric Regenerative Medicine, University of California Davis School of Medicine and Shriners Hospital, Sacramento, CA, USA; 7Department of Biochemistry and Molecular Medicine, University of California Davis School of Medicine, Sacramento, CA, USA; 8Department of Neurology, University of California Los Angeles School of Medicine, Los Angeles, CA, USACorrespondence: Randi J HagermanMIND Institute UCDMC, 2825 50th Street, Sacramento, CA 95817, USAEmail rjhagerman@ucdavis.eduAbstract: Fragile X–associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that usually begins in the early 60s and affects carriers of premutation expansion (55– 200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. Additional disorders can co-occur with FXTAS including Alzheimer’s disease (AD). Here we discuss a case report of a male with 67 CGG repeats in FMR1 who had mild late-onset FXTAS symptoms followed by neurocognitive disorder symptoms consistent with AD. The patient has developed tremor and ataxia that are the two characteristic symptoms of FXTAS. In addition, he shows rapid cognitive decline, brain atrophy most substantial in the medial temporal lobe, and decreased metabolism in the brain regions that are the characteristic findings of AD. The purpose of this study is to describe a patient profile with both diseases and review the details of an overlap between these two diseases.Keywords: FXTAS, Alzheimer’s disease, cognitive decline, neurocognitive disorder, premutation, neurogenetics

Objective: To assess the capacity of fetal pancreatic size, before standard blood glucose testing for screening and diagnosis, to predict maternal gestational diabetes mellitus (GDM). Methods: This was a retrospective cohort study of low‐risk pregnant women recruited during routine second‐trimester fetal anatomical screening at 20–25 weeks' gestation at two ultrasound units in Israel between 2017 and 2020. The predictive performance of fetal pancreatic circumference ≥ 80th and ≥ 90th centiles and glucose challenge test (GCT) was examined for the outcome of GDM. The independent‐samples t‐test was used to compare mean pancreatic circumference centile between pregnancies with GDM and those without GDM. Diagnostic performance was evaluated with 2 × 2 contingency tables and receiver‐operating‐characteristics (ROC) curves. Results: Overall, 195 women were selected for statistical analysis. Twenty‐four (12.3%) women were diagnosed subsequently with GDM. The mean ± SD fetal pancreatic circumference centile was significantly higher in the GDM group compared with the non‐GDM group (82.4 ± 14.6 vs 62.8 ± 27.6; P < 0.001). The pancreatic circumference centile was correlated positively with the estimated fetal weight centile (Pearson's coefficient, 0.243; P = 0.001). The 80th centile cut‐off for pancreatic circumference had the highest sensitivity (70.8%) and positive predictive value (23.3%) for future maternal GDM, with the best trade‐off between sensitivity and specificity achieved at the 75th centile cut‐off (sensitivity, 79%; specificity, 60%). The GCT had better specificity (90.2%) and negative predictive value (97.9%) compared with both cut‐offs in pancreatic circumference. The area under the ROC curve was higher for pancreatic circumference compared with GCT (0.71 vs 0.64) and only the former was statistically significant (P = 0.001). Conclusions: Fetal pancreatic circumference has a higher positive predictive capacity compared with GCT. Measuring pancreatic circumference can identify pregnancies at high risk for maternal GDM, thereby promoting earlier diagnosis and treatment, decreasing the time period during which the fetus is exposed to high maternal glucose levels and improving infant outcome. © 2024 The Author(s). Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Purpose:Surgical site infection (SSI) caused by Propionibacterium acnes is an infrequent but devastating complication after spinal fusion. The purpose of this study was to identify risk factors for SSI with Propionibacterium acnes after spinal fusion for juvenile and adolescent idiopathic scoliosis (JIS and AIS). Methods:A case-control study was performed. Each case was matched 2:1 for age, gender and diagnosis. Retrospective chart review was performed to obtain relevant demographic, surgical and clinical data for all cases and controls. Statistical analysis included paired t-test and McNemar test, as well as exact logistic regression and robust regression models. Results:This study included ten infection cases (eight AIS, two JIS) and 20 controls (16 AIS, four JIS). In total, six infected cases presented within two weeks of the index procedure (acute infection) and four infected cases presented more than one year from the index procedure (delayed infection). The most common presentation for acute infections was wound drainage, while back pain was more common in delayed infections. All infections were successfully treated with surgical irrigation and debridement and postoperative antibiotics. Hardware was removed for patients with delayed infections. The strongest risk factor for infection was increased requirement for blood transfusion, but it did not reach statistical significance. Conclusion:SSI with Propionibacterium acnes is an important complication after spinal fusion for idiopathic scoliosis. These infections can be successfully treated, but larger studies are needed to further identify risk factors and establish standardized guidelines for the treatment and prevention of this complication. Level of Evidence Level III:

The cellular receptors for a coronavirus, mouse hepatitis virus (MHV), have been recently identified as one or more members of the carcinoembryonic antigen (CEA) family. The neurotropic JHM strain of MHV (MHV-JHM) possesses a highly fusogenic surface (S) glycoprotein. This protein is now shown to promote the spread of MHV into cells lacking the specific CEA-related MHV receptor. Resistant cells are recruited into MHV-induced syncytium with consequent production of progeny virus. Cell-to-cell spread of virus via membrane fusion without the requirement for specific cell surface receptor offers a novel way for virus to spread within infected hosts.

Transvaginal ultrasonography has become the primary test for diagnosing pelvic endometriosis and adenomyosis. This study aimed to examine whether the sonographic co-occurrence of endometriosis affects the sonographic features of adenomyosis based on the revised Morphological Uterus Sonographic Assessment (MUSA) criteria. This retrospective cohort study evaluated 710 patients presenting with adenomyosis/endometriosis potentially related symptoms over 12 years (2010-2022). Ninety-five women were diagnosed with adenomyosis, 24 with concurrent endometriosis, and 71 with isolated adenomyosis (controls). The groups were compared based on MUSA criteria sonographic characteristics. Gynecological ultrasound unit in a tertiary referral center. 710 patients were included in the study, of which 95 patients were diagnosed with Adenomyosis. All women went through a targeted pelvic ultrasound scan by an accredited gynecologist with expertise in gynecological imaging. The demographic characteristics were similar across both groups. Globular uterine configuration was the most common sonographic feature of adenomyosis observed in both groups. Adenomyotic cysts were significantly more prevalent in patients with isolated adenomyosis (51%) than those with concurrent endometriosis (21%, p=0.016). Additionally, those with concurrent endometriosis displayed a higher prevalence of indirect sonographic features (asymmetrical thickening, fan-shaped shadowing, translesional vascularity, irregular junctional zone) (54% vs. 34%, p=0.02), while those with isolated adenomyosis exhibited more direct features (cysts, hyperechoic islands, echogenic sub endometrial lines, buds) and combinations of both direct and indirect features (27% vs. 8% and 32% vs. 17%, respectively, P=0.02). The study demonstrates that the concurrent presence of endometriosis can influence specific sonographic features of adenomyosis. The reduced prevalence of adenomyotic cysts and increased reliance on indirect sonographic signs in patients with concurrent endometriosis imply that endometriosis affects the distribution and manifestation of adenomyosis. These differences have important clinical implications, potentially affecting diagnostic accuracy and influencing treatment decisions. Future research should focus on the impact of these imaging findings on clinical outcomes and treatment approaches. [ABSTRACT FROM AUTHOR]

This article, titled "Diagnostic insights and clinical outcomes of fetal urinary extravasation," presents a retrospective cohort study on cases of prenatal-diagnosed fetal urinary extravasation. The study identified seven cases out of approximately 1750 targeted scans for kidney and urinary tract anomalies, with a gender split of three males and four females. The cases had diverse pre- and postnatal clinical manifestations and outcomes, with some requiring surgical interventions and others being effectively managed conservatively. The article emphasizes the importance of prenatal diagnosis in revealing the underlying etiology and improving parental counseling regarding postnatal surgical intervention and renal outcome. [Extracted from the article]

This article explores obstetricians' perspectives on the use of intrapartum ultrasound (US) in delivery rooms. A web-based survey was conducted, and the results showed that 85% of respondents use US before operative vaginal delivery, and 36% use it for coached US-guided maternal pushing. Most obstetricians view US as a complementary tool and believe that integrating it in delivery rooms can reduce maternal and neonatal morbidity and improve the labor experience. However, the utilization of US for assessing cervical dilation and effacement remains limited. The study suggests that increased training and equipment provision may encourage broader use of intrapartum US and potentially enhance obstetric outcomes. [Extracted from the article]