bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prediction of a 10-year risk of type 2 diabetes mellitus in the Turkish population
Authors: Sezer Önder , Özdoğan Lafçi Neslihan , Korkmaz Selçuk , Dağdeviren Hamdi Nezih 
Published: December 2021

Abstract
According to the International Diabetes Federation, Turkey will be among the top 10 countries in the world with the highest prevalence of diabetes mellitus (DM) by 2045, with a speculated number of cases of 10.4 million.
This study aimed to predict the 10-year risk of type 2 DM in a Turkish population, assess potential factors of the 10-year risk of DM, and assess the outcomes of Turkey's 2015 to 2020 program for DM.
Individuals aged 20–64 years were categorized and stratified according to age (in ranges of 5 years), sex, and populations of family medicine centers to reflect the whole population. The Finnish Diabetes Risk Score, sociodemographic characteristics, body fat, muscle, bone ratio, blood pressure, and waist-to-height ratio were evaluated.
We found that 9.5% (n = 71) of the population aged 20 to 64 years will have DM within the next 10 years. Low levels of education (odds ratio [OR]: 2.054; 95% confidence interval [CI]: 1.011–4.174), smoking cessation (OR: 2.636; 95% CI: 1.260–5.513), a waist-to-height ratio >0.5 (OR: 6.885; 95% CI: 2.301–20.602), body fat percentage (OR: 1.187; 95% CI: 1.130–1.247), high systolic blood pressure (OR: 1.025; 95% CI: 1.009–1.041), and alcohol consumption (beta-estimation: −0.690; OR: 0.501; 95% CI: 0.275–0.914) affect the 10-year risk of type 2 DM.
Individuals at risk for DM can be easily identified using risk assessment tools in primary care; however, there is no active screening program in the healthcare system, and only proposals exist. In addition to screening, preventive measures should focus on raising awareness of DM, reducing body fat percentage and systolic blood pressure, and decreasing the waist-to-height ratio to <0.5.
Urorectal septum malformation sequence with a giant calculus in the colon cyst in an adult
Authors: Zeng Xue , Xiao Bo , Su Bo-Xing , Yao Jing-Jing , Ji Chao-Yue , Li Jian-Xing 
Published: December 2021

Abstract

Introduction:
The present article reports urinary and digestive system abnormalities, including retrocaval ureter, anal atresia, and colon duct cyst with duplicate urethra carrying a giant calculus in a 40-year-old man.

Patient concerns:
A 40-year-old man visited the hospital complaining of acute pain in the right lower abdomen.

Diagnosis:
Cystoscopy showed that the patient had duplicated urethra and bladder, and pathology showed that the duplicated bladder consisted of colon tissue, which led to the diagnosis of a urorectal septum malformation sequence.

Interventions and outcomes:
The calculus was removed, and the retrocaval ureter was treated with laparoscopic ureteroureterostomy. We followed up for 3 months after the secondary surgery, and there were no complications.

Conclusion:
A urorectal septum malformation sequence with a giant calculus in a colon cyst is rare. Hence, clinicians should be aware of the possibility of calculus formation in patients with a urorectal septum malformation sequence.
Recessive RYR1-related centronuclear myopathy with congenital chylothorax in a Japanese male child
Authors: Tanaka Yuichiro , Fukuhara Yasuyuki , Maiberger Thomas , Kubota Masaya , Ishiguro Akira , Kubota Mitsuru 
Published: December 2021

Abstract

Introduction:
The severity of RYR1-related centronuclear myopathy (CNM) is typically intermediate between the most severe X-linked myotubular myopathy and mildly severe DNM2-related centronuclear myopathy. We report a Japanese male patient with recessive RYR1-related CNM that was exceedingly severe compared to previously reported cases and had congenital chylothorax, which is a very rare complication of congenital myopathy.

Patient concerns:
A male neonate from non-consanguineous Japanese parents presented with generalized hypotonia and respiratory distress at birth.

Diagnosis:
Muscle biopsy of the vastus lateralis showed typical features of CNM. The next-generation sequencing assay detected RYR1 gene mutations, which were c.5989G>A (p.E1997K) and c.1441-2A>G. These findings confirmed the diagnosis of recessive RYR1-related CNM. Chest radiography showed bilateral pleural effusions at birth, which was diagnosed as chylothorax on laboratory examination.

Interventions:
Mechanical ventilation and tube feeding were initiated. Chylothorax was managed with drainage and treatment with octreotide acetate.

Outcomes:
His clinical course was so rapidly progressive that he could not move his fingers even when he was one year of age.

Conclusion:
Congenital chylothorax with congenital myopathy can be considered an indicator of a severe phenotype, and its presence may indicate poor prognosis.
Superior mesenteric vein thrombosis in a patient with primary focal segmental glomerulosclerosis
Authors: Somaili Mohammed , Wang Carol , Almansour Omar , Alrefa’ei Basma 
Published: December 2021

Abstract

Introduction:
Nephrotic syndrome creates a hypercoagulable state that predisposes patients to venous thromboembolism. Mesenteric vein thrombosis associated with minimal change disease and membranous nephropathy has rarely been reported. Few cases of mesenteric vein thrombosis have been reported in some types of nephrotic syndrome; however, isolated mesenteric vein thrombosis has not been previously reported in adults with nephrotic syndrome due to focal segmental glomerulosclerosis.

Patient concern:
A 19-year-old man with biopsy-proven primary focal segmental glomerulosclerosis was in partial disease remission when he presented with postprandial abdominal pain four months after starting prednisone therapy.

Diagnosis:
Abdominal computed tomography revealed subacute superior mesenteric vein thrombosis complicated by distal ileum ischemia.

Intervention:
The patient was treated with low-molecular-weight heparin and bridged with warfarin. Prednisone therapy was continued for the underlying nephrotic syndrome.

Outcomes:
The patient's symptoms improved with conservative management. He continued to be asymptomatic at subsequent follow-up visits, with no reported complications or medication side effects.

Conclusion:
This unique case of superior mesenteric vein thrombosis in an adult with nephrotic syndrome due to primary focal segmental glomerulosclerosis in partial remission diagnosed on computed tomography was treated conservatively with anticoagulation therapy. The findings in this case suggest that in patients with nephrotic syndrome, hypercoagulability may extend beyond the acute stage of the disease despite treatment.
Colorectal cancer screening by fecal immunochemical test or colonoscopy in France: how many people are actually covered? Focus on the Provence-Alpes-Côte d’Azur region
Authors: Seitz Jean-François , Lapalus David , Arlotto Sylvie , Gentile Stéphanie , Ettori Florence , Rinaldi Yves , Grandval Philippe , Delasalle Patrick 
Published: December 2021

Background
Colorectal cancer (CRC) screening with fecal immunochemical test (FIT) remains low in France, particularly in the Provence-Alpes-Côte-d’Azur (PACA) region. The aim of this study was to compare insured persons (50–74 years) who had FIT and/or colonoscopy in PACA with the general French population.

Methods
FIT and colonoscopy rates were calculated according to SP-France and National Health Data System data.

Results
The rate of FIT in 2016–2017 was lower in PACA than in France (25.6 vs. 29.1%, P < 0.001). Conversely, in 2013–2017, the rate of colonoscopy in the past 5 years was higher in PACA than in France (23.1 vs. 20.1%, P < 0.001). Total rate for FIT within 2 years and/or colonoscopy within 5 years was 46.0% in PACA vs. 46.5% in France (P < 0.001). Overuse was higher for diagnostic (1.21) than therapeutic colonoscopies (1.05). Therapeutic colonoscopy occurred more with FIT than without (47.88 vs. 38.7%, P < 0.001). According to USA criteria, persons with FIT within 2 years and/or sigmoidoscopy and/or colonoscopy within 10 years was 59.4% in PACA vs. 54.7% in France (P < 0.001).

Conclusion
Low participation in FIT in France must be improved to increase the rate of therapeutic colonoscopies and reduce the incidence of CRC. The higher colonoscopy rate in PACA could explain the lower CRC mortality. Efforts should be focused on the more than 40% of French insured who are not screened by either FIT or colonoscopy.
The Impact of Lockout Laws on Maxillofacial Fractures in South Australia
Authors: Diab Jason , Moore Mark H. 
Published: December 2021

Introduction:
Alcohol outlet density and unrestricted trading hours are strongly predictive of domestic and non-domestic assault rates, respectively. international studies report a strong male predominance for facial fractures. Harm minimization policies such as lockout laws have gained considerable attention to reduce accessibility of alcohol consumption and drinking patterns.

Methods:
A retrospective review was conducted from January 2012 to January 2017 at the Women and Children's Hospital and Royal Adelaide Hospital, Adelaide. All maxillofacial fractures that attended or were referred to the unit were included in this study. The primary objective was to determine the impact of facial fracture presentations, particularly assaults, for the pre- and post-lockout periods.

Results:
From 2012 to 2017, there was a 5.1% decrease in assaults per year (P = 0.002). Assaults increased by 11.7% for women and alcohol related assaults decreased by 10.2% for men (P < 0.05). Assault and alcohol related assault rates decreased by 9.3% and 10.5%, respectively, between lockout periods (P < 0.001). Comparative analysis between Adelaide and control (inner regional city) showed assaults decreased by 9.8% between lockout periods (51.2% versus 41.4%, P < 0.001). Multivariate analysis showed alcohol, open reduction internal fixation and men were associated with a lower risk of assault related fractures, but women and night time presentations had a higher risk (P < 0.05).

Conclusions:
The influence of lockout laws contributed to an overall decrease in assaults and operative interventions, particularly alcohol related incidences amongst men. Ongoing longitudinal surveillance should guide current evidence for policy developers to reduce the risk of harm.
Multimodal analgesia reduces opioid requirements in trauma patients with rib fractures
Authors: Burton Shakira W. , Riojas Christina , Gesin Gail , Smith Charlotte B. , Bandy Vashti , Sing Ronald , Roomian Tamar , Wally Meghan K. , Lauer Cynthia W. 
Published: December 2021

BACKGROUND
Rib fractures are common in trauma patients and are associated with significant morbidity and mortality. Adequate analgesia is essential to avoid the complications associated with rib fractures. Opioids are frequently used for analgesia in these patients. This study compared the effect of a multimodal pain regimen (MMPR) on inpatient opioid use and outpatient opioid prescribing practices in adult trauma patients with rib fractures.

STUDY DESIGN
A pre-post cohort study of adult trauma patients with rib fractures was conducted at a Level I trauma center before (PRE) and after (POST) implementation of an MMPR. Patients on long-acting opioids before admission and those on continuous opioid infusions were excluded. Primary outcomes were oral opioid administration during the first 5 days of hospitalization and opioids prescribed at discharge. Opioid data were converted to morphine milligram equivalents (MMEs).

RESULTS
Six hundred fifty-three patients met inclusion criteria (323 PRE, 330 POST). There was a significant reduction in the daily MME during the second through fifth days of hospitalization; and the average inpatient MME over the first five inpatient days (23 MME PRE vs. 17 MME POST, p = 0.0087). There was a significant reduction in the total outpatient MME prescribed upon discharge (322 MME PRE vs. 225 MME POST, p = 0.006).

CONCLUSION
The implementation of an MMPR in patients with rib fractures resulted in significant reduction in inpatient opioid consumption and was associated with a reduction in the quantity of opiates prescribed at discharge.

LEVEL OF EVIDENCE
Therapeutic/Care Management; level IV.
Mesenchymal stem cell extracellular vesicles mitigate vascular permeability and injury in the small intestine and lung in a mouse model of hemorrhagic shock and trauma
Authors: Barry Mark , Trivedi Alpa , Pathipati Praneeti , Miyazawa Byron Y. , Vivona Lindsay R. , Togarrati Padma Priya , Khakoo Manisha , Tanner Heather , Norris Philip , Pati Shibani 
Published: December 2021

BACKGROUND
Hemorrhagic shock and trauma (HS/T)-induced gut injury may play a critical role in the development of multi-organ failure. Novel therapies that target gut injury and vascular permeability early after HS/T could have substantial impacts on trauma patients. In this study, we investigate the therapeutic potential of human mesenchymal stem cells (MSCs) and MSC-derived extracellular vesicles (MSC EVs) in vivo in HS/T in mice and in vitro in Caco-2 human intestinal epithelial cells.

METHODS
In vivo, using a mouse model of HS/T, vascular permeability to a 10-kDa dextran dye and histopathologic injury in the small intestine and lungs were measured among mice. Groups were (1) sham, (2) HS/T + lactated Ringer's (LR), (3) HS/T + MSCs, and (4) HS/T + MSC EVs. In vitro, Caco-2 cell monolayer integrity was evaluated by an epithelial cell impedance assay. Caco-2 cells were pretreated with control media, MSC conditioned media (CM), or MSC EVs, then challenged with hydrogen peroxide (H2O2).

RESULTS
In vivo, both MSCs and MSC EVs significantly reduced vascular permeability in the small intestine (fluorescence units: sham, 456 ± 88; LR, 1067 ± 295; MSC, 765 ± 258; MSC EV, 715 ± 200) and lung (sham, 297 ± 155; LR, 791 ± 331; MSC, 331 ± 172; MSC EV, 303 ± 88). Histopathologic injury in the small intestine and lung was also attenuated by MSCs and MSC EVs. In vitro, MSC CM but not MSC EVs attenuated the increased permeability among Caco-2 cell monolayers challenged with H2O2.

CONCLUSION
Mesenchymal stem cell EVs recapitulate the effects of MSCs in reducing vascular permeability and injury in the small intestine and lungs in vivo, suggesting MSC EVs may be a potential cell-free therapy targeting multi-organ dysfunction in HS/T. This is the first study to demonstrate that MSC EVs improve both gut and lung injury in an animal model of HS/T.
Mitochondria play a key role in oxidative stress-induced pancreatic islet dysfunction after severe burns
Authors: Liu Xinzhu , Liu Zhaoxing , Li Dawei , Niu Yuezeng , Zhang Wen , Sun Jiachen , Zhang Kun , Zhao Hongqing , Li Zhisheng , Shen Chuan'an 
Published: December 2021

BACKGROUND
Severe burns are often complicated with hyperglycemia in part caused by pancreatic islet dysfunction. Previous studies have revealed that in diabetes mellitus, the pancreatic islet dysfunction is partly attributed to oxidative stress. However, the role and mechanism of oxidative stress in hyperglycemia after severe burns remain unclear. Therefore, the purpose of this study was to explore the level and mechanism of oxidative stress in pancreatic islets after severe burns and the antioxidant effect of sodium pyruvate.

METHODS
A 30% total body surface area full-thickness burn model was established using male C57BL/6 mice. Fasting blood glucose and glucose-stimulated insulin secretion (GSIS) 24 hours post severe burns were detected. The levels of reactive oxygen species (ROS) and mitochondrial ROS of islets were detected. The activities of complexes in the mitochondrial respiratory chain of islets were measured. The main antioxidant defense system, glutaredoxin system, and thioredoxin system-related indexes were detected, and the expression of manganese superoxide dismutase (Mn-SOD) was measured. In addition, the antioxidant activity of sodium pyruvate was evaluated post severe burns.

RESULTS
After severe burns, fasting blood glucose levels increased, while GSIS levels decreased, with significantly elevated ROS levels of pancreatic islets. The activity of complex III decreased and the level of mitochondrial ROS increased significantly post severe burns. For the detoxification of ROS, the expressions of thioredoxin 2, thioredoxin reductase 2, and Mn-SOD located in mitochondria decreased. Sodium pyruvate reduced the level of mitochondrial ROS in islet cells and improved the GSIS of islets after severe burns.

CONCLUSION
The high level of mitochondrial ROS of islets is caused by reducing the activity of complex III in mitochondrial respiratory chain, inhibiting mitochondrial thioredoxin system, and downregulating Mn-SOD post severe burns. Sodium pyruvate plays an antioxidant role post severe burns in mice islets and improves the islet function.
Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 associated with Developmental and Epileptic Encephalopathy and Autism Spectrum Disorder
Authors: Seiffert Simone , Pendziwiat Manuela , Bierhals Tatjana , Goel Himanshu , Schwarz Niklas , van der Ven Amelie , Boßelmann Christian Malte , Willemsen Marjolein H. , Hedrich Ulrike B.S. , Helbig Ingo , Weber Yvonne G. 
Published: December 2021

AbstractObjectiveFibroblast growth factor 12 (FGF12) may represent an important modulator of neuronal network activity and has been associated with developmental and epileptic encephalopathy (DEE). We sought to identify the underlying pathomechanism of FGF12-related disorders.MethodsPatients with pathogenic variants in FGF12 were identified through published case reports, GeneMatcher and whole exome sequencing of own case collections. The functional consequences of two missense variants and two copy number variants (CNVs) were studied by co-expression of wild-type and mutant FGF12 in neuronal-like cells (ND7/23) with the sodium channels NaV1.2 or NaV1.6, including their functional active beta-1 and beta-2 sodium channel subunits (SCN1B and SCN2B).ResultsFour variants in FGF12 were identified for functional analysis: one novel FGF12 variant in a patient with autism spectrum disorder and three variants from previously published patients affected by developmental and epileptic encephalopathy (DEE). We demonstrate the differential regulating effects of wildtype and mutant FGF12 on NaV1.2 and NaV1.6 channels. Here, FGF12 variants lead to a complex kinetic influence on Nav1.2 and Nav 1.6, including loss- as well as gain-of function changes in fast inactivation as well as loss-of function changes in slow inactivation.InterpretationFor the first time, we could demonstrate the detailed regulating effect of FGF12 on NaV1.2 and NaV1.6 and confirmed the complex effect of FGF12 on neuronal network activity. Our findings expand the phenotypic spectrum related to FGF12 variants and elucidate the underlying pathomechanism. Specific variants in FGF12-associated disorders may be amenable to precision treatment with sodium channel blockers.
SlTDP1 Is Required To Specify Tapetum Identity And For The Regulation Of Redox Homeostasis In Tomato Anthers
Authors: Salazar-Sarasua Blanca , López-Martín María Jesús , Roque Edelín , Hamza Rim , Cañas Luis Antonio , Beltrán José Pío , Gómez-Mena Concepción 
Published: December 2021

ABSTRACTThe tapetum is a specialized layer of cells within the anther adjacent to the sporogenic tissue. During its short life, it provides nutrients, molecules and materials to the pollen mother cells and microsporocytes being essential during callose degradation and pollen wall formation. However, the acquisition of tapetal cell identity in tomato plants is a process still poorly understood. We report here the identification and characterization of SlTPD1 (Solanum lycopersicum TPD1), a gene specifically required for pollen development in tomato plants. Gene editing was used to generate loss-of-function Sltpd1 mutants that showed absence of tapetal tissue. In these plants, sporogenous cells developed but failed to complete meiosis resulting in complete male sterility. Transcriptomic analysis conducted in wild-type and mutant anthers at an early stage revealed the down regulation of a set of genes related to redox homeostasis. Indeed, Sltpd1 anthers showed a reduction of reactive oxygen species (ROS) accumulation at early stages and altered activity of ROS scavenging enzymes. The obtained results highlight the importance of ROS homeostasis in the interaction between the tapetum and the sporogenous tissue in tomato plants.One sentence summaryThe small protein SlTPD1 is required for tapetum formation in tomato, highlighting the role of this tissue in the regulation of redox homeostasis during male gametogenesis.
Endogenous Syngap1 Alpha Splice Forms Promote Cognitive Function and Seizure Protection
Authors: Kilinc Murat , Arora Vineet , Creson Thomas K. , Rojas Camilo , Le Aliza A. , Lauterborn Julie , Wilkinson Brent , Hartel Nicolas , Graham Nicholas , Reich Adrian , Gou Gemma , Araki Yoichi , Bayés Àlex , Coba Marcelo P. , Lynch Gary , Miller Courtney A. , Rumbaugh Gavin 
Published: December 2021

SummaryLoss-of-function variants in SYNAGP1 cause a developmental encephalopathy defined by cognitive impairment, autistic features, and epilepsy. SYNGAP1 splicing leads to expression of distinct functional protein isoforms. Splicing imparts multiple cellular functions of SynGAP proteins through coding of distinct C-terminal motifs. However, it remains unknown how these different splice sequences function in vivo to regulate neuronal function and behavior. Reduced expression of SynGAP-α1/2 C-terminal splice variants in mice caused severe phenotypes, including reduced survival, impaired learning, and reduced seizure latency. In contrast, upregulation of α1/2 expression improved learning and increased seizure latency. Mice expressing α1-specific mutations, which disrupted SynGAP cellular functions without altering protein expression, promoted seizure, disrupted synapse plasticity, and impaired learning. These findings demonstrate that endogenous SynGAP isoforms with α1/2 spliced sequences promote cognitive function and impart seizure protection. Regulation of SynGAP-α expression or function may be a viable therapeutic strategy to broadly improve cognitive function and mitigate seizure.
Gene therapy targeting the blood-brain barrier improves neurological symptoms in a model of genetic MCT8 deficiency
Authors: Sundaram Sivaraj M. , Pereira Adriana Arrulo , Köpke Hannes , Müller-Fielitz Helge , De Angelis Meri , Müller Timo D. , Heuer Heike , Körbelin Jakob , Krohn Markus , Mittag Jens , Nogueiras Ruben , Prevot Vincent , Schwaninger Markus 
Published: December 2021

AbstractThe solute carrier monocarboxylate transporter 8 (MCT8) transports the thyroid hormones thyroxine and tri-iodothyronine (T3) across cell membranes. MCT8 gene deficiency, termed Allan-Herndon-Dudley syndrome, is an important cause of X-linked intellectual and motor disability. As no treatment of the neurological symptoms is available yet, we tested a gene replacement therapy in Mct8- and Oatp1c1-deficient mice as a well-established model of the disease. Here, we report that targeting brain endothelial cells for Mct8 expression by intravenously injecting the vector AAV-BR1-Mct8 increased T3 levels in the brain and ameliorated morphological and functional parameters associated with the disease. Importantly, the therapy resulted in a long-lasting improvement in motor coordination. Thus, the data support the concept that MCT8 mediates the transport of thyroid hormones into the brain and indicate that a readily accessible vascular target can help overcome the consequences of the severe disability associated with MCT8 deficiency.