bluuebunny/crossref_metadata_2025_split huggingface dataset:
Pathophysiology, clinical manifestations and current management of IL-1 mediated monogenic systemic autoinflammatory diseases, a literature review
Authors: Li Yandie , Yu Meiping , Lu Meiping 
Published: October 2022

Abstract
Background
Systemic autoinflammatory diseases (SAIDs) are hyperinflammatory and immune-dysregulation conditions that present in childhood. This kind of disease is a rare disease with early-onset, severe condition and difficult diagnosis, which seriously affects the growth and development of children. Most children need a genetic diagnosis. However, with the limitation of access to genetic testing and the detection of somatic mutations, the diagnosis of SAIDs remains challenging. IL-1 is one of the important cytokines involved in the pathogenesis of SAIDs. Here we briefly review monogenic SAIDs mediated by aberrant IL-1 production, with the aim to further understand the pathogenesis, clinical manifestations and treatments of IL-1 mediated SAIDs.

Methods
Literature reviews were performed using “PubMed” and “Web of Science” by searching for the terms “autoinflammatory diseases” and “IL-1”.

Results
Monogenic SAIDs mediated by IL-1 include MKD, FMF, TRAPS, PAAND, PAPA, CAPS, DIRA, Majeed syndrome, NAIAD, NLRC4-MAS, PFIT, APLAID. Monogenic SAIDs have early onset, various clinical manifestations and difficult diagnosis, so early recognition and early treatment can reduce the complications and enhance the quality of life.

Conclusions
There are many kinds of IL-1 mediated SAIDs. Pediatricians should be alert to SAIDs in the face of the patients with repeated fever, repeated rash and poor effect of routine treatment. The patients should be carried out with gene testing and treatment in time.
Global prevalence of congenital anencephaly: a comprehensive systematic review and meta-analysis
Authors: Salari Nader , Fatahi Behnaz , Fatahian Reza , Mohammadi Payam , Rahmani Adibeh , Darvishi Niloofar , Keivan Mona , Shohaimi Shamarina , Mohammadi Masoud 
Published: October 2022

Abstract
Background
Anencephaly is a fatal congenital anomaly characterized by the absence of brain hemispheres and cranial arch. Timely preventive measures can be taken by knowing the exact prevalence of this common neural tube defect; thus, carried out through systematic review and meta-analysis, the present study was conducted to determine the worldwide prevalence, incidence and mortality of anencephaly.

Methods
Cochran’s seven-step instructions were used as the guideline. Having determined the research question and inclusion and exclusion criteria, we studied MagIran, SID, Science Direct, WoS, Web of Science, Medline (PubMed), Scopus, and Google Scholar databases. Moreover, the search strategy in each database included using all possible keyword combinations with the help of “AND” and “OR” operators with no time limit to 2021. The I2 test was used to calculate study heterogeneity, and Begg and Mazumdar rank correlation tests were employed to assess the publication bias. Data were analyzed by Comprehensive Meta-Analysis software (Version 2).

Results
In this study, the statements of Preferred Reporting Items for Systematic Reviews and Meta-Analyzes (PRISMA) were used. In the first stage, 1141 articles were found, of which 330 duplicate studies were omitted. 371 articles were deleted based on the inclusion and exclusion criteria by reviewing the title and abstract of the study. 58 articles were removed by reviewing the full text of the article because it was not relevant to the research. 360 studies with a sample size of 207,639,132 people were considered for the meta-analysis. Overall estimate of the prevalence, incidence and attenuation of anencephaly worldwide were 5.1 per ten thousand births (95% confidence interval 4.7–5.5 per ten thousand births), 8.3 per ten thousand births (95% confidence interval 5.5–9.9 per ten thousand births), 5.5 per ten thousand births (95% confidence interval 1.8–15 per ten thousand births) respectively the highest of which according to the subgroup analysis, belonged to the Australian continent with 8.6 per ten thousand births (95% confidence interval 7.7–9.5 per ten thousand births).

Conclusion
The overall prevalence of anencephaly in the world is significant, indicating the urgent need for preventive and treating measures.
Identification of a novel interaction site between the large hepatitis delta antigen and clathrin that regulates the assembly of genotype III hepatitis delta virus
Authors: Chiou Wei-Chung , Lu Hsu-Feng , Chen Jui-Chieh , Lai Yu-Heng , Chang Ming-Fu , Huang Yuan-Li , Tien Ni , Huang Cheng 
Published: October 2022

Abstract
Background
Hepatitis delta virus (HDV), a satellite virus of hepatitis B virus (HBV), is a small, defective RNA virus strongly associated with the most severe form of hepatitis and progressive chronic liver disease and cirrhosis. Chronic hepatitis D, resulting from HBV/HDV coinfection, is considered to be the most severe form of viral hepatitis and affects 12–20 million people worldwide. Involved in the endocytosis and exocytosis of cellular and viral proteins, clathrin contributes to the pathogenesis and morphogenesis of HDV. Previously, we demonstrated that HDV-I and -II large hepatitis delta antigens (HDAg-L) possess a putative clathrin box that interacts with clathrin heavy chain (CHC) and supports HDV assembly.

Methods
Virus assembly and vesicular trafficking of HDV virus-like particles (VLPs) were evaluated in Huh7 cells expressing HDV-I, -II and -III HDAg-L and hepatitis B surface antigen (HBsAg). To elucidate the interaction motif between HDAg-L and CHC, site-directed mutagenesis was performed to introduce mutations into HDAg-L and CHC and analyzed using coimmunoprecipitation or pull-down assays.

Results
Comparable to HDV-I virus-like particles (VLPs), HDV-III VLPs were produced at a similar level and secreted into the medium via clathrin-mediated post-Golgi vesicular trafficking. Mutation at F27 or E33 of CHC abolished the binding of CHC to the C-terminus of HDV-III HDAg-L. Mutation at W207 of HDV-III HDAg-L inhibited its association with CHC and interfered with HDV-III VLP formation. We elucidated mechanism of the binding of HDV-III HDAg-L to CHC and confirmed the pivotal role of clathrin binding in the assembly of genotype III HDV.

Conclusions
A novel W box which was identified at the C terminus of HDV-III HDAg-L is known to differ from the conventional clathrin box but also interacts with CHC. The novel W box of HDAg-L constitutes a new molecular target for anti-HDV-III therapeutics.
Ischial osteochondroma as an unusual source of pregnancy-related sciatic pain: a case report
Authors: Trager Robert J. , Prosak Sarah E. , Getty Patrick J. , Barger Richard L. , Saab Shahrazad T. , Dusek Jeffery A. 
Published: October 2022

Abstract
Background
While most cases of sciatica result from degenerative conditions of the low back, some cases result from conditions of the hip and pelvic region. Sciatica developing in relation to pregnancy or labor also presents unique considerations.

Case presentation
A 37-year-old African American woman with a history of hypertension and polycystic ovary syndrome presented to a chiropractor at a hospital-based outpatient clinic with a seven-week history of low back pain with radiation into the right lower extremity which began during labor. The chiropractor performed a brief trial of care, yet when the patient’s symptoms worsened, ordered lumbar spine radiographs, followed by lumbar magnetic resonance imaging (MRI), which were both normal. The chiropractor then ordered hip radiographs, which were suggestive of ischial osteochondroma, and referred the patient to an orthopedic oncologist. MRI findings were compatible with an osteochondroma with associated adventitial bursitis and mass effect on the sciatic nerve. The patient initially chose conservative management with bursa aspiration and therapeutic injection. Despite initial relief, there was eventual return of symptoms. The patient elected to undergo surgical removal, with a positive outcome.

Conclusion
The key distinguishing features that led to a diagnosis of osteochondroma in this case included attention to the patient-reported symptoms and history, worsening of symptoms despite conservative care, and lack of explanatory findings on lumbar imaging. This case highlights the benefit of evaluating the hip and pelvis when the clinical features of sciatica cannot be ascribed to a lumbar etiology. This case also illustrates the role of a chiropractor working in an integrative health system to facilitate timely imaging and referrals to resolve a challenging diagnosis.
Systematic review: preoperative psychological factors and total hip arthroplasty outcomes
Authors: O’Connor John P. , Holden Paige , Gagnier Joel J. 
Published: October 2022

Abstract
Background
Total hip arthroplasties (THA) are cost-effective interventions for patients with osteoarthritis refractory to physical therapy or medical management. Most individuals report positive surgical outcomes with reduction in pain and improved joint function. Multiple recent studies demonstrated the influence of patient mental health on surgical success. We sought to determine the relationship between patient preoperative psychological factors and postoperative THA outcomes, specifically pain and function.

Methods
PubMed, EMBASE and Cochrane Reviews databases were queried using terms “(mental OR psychological OR psychiatric) AND (function OR trait OR state OR predictor OR health) AND (outcome OR success OR recovery OR response) AND total joint arthroplasty).” A total of 21 of 1,286 studies fulfilled inclusion criteria and were included in the review. All studies were analyzed using GRADE and Risk of Bias criteria.

Results
Overall, compared to cohorts with a normal psychological status, patients with higher objective measures of preoperative depression and anxiety reported increased postoperative pain, decreased functionality and greater complications following THA. Additionally, participants with lower self-efficacy or somatization were found to have worse functional outcomes.

Conclusions
Preoperative depression, anxiety and somatization may negatively impact patient reported postoperative pain, functionality and complications following THA. Surgeons should consider preoperative psychological status when counseling patients regarding expected surgical outcomes.

Level of evidence
3.
Immunological consequences of compromised ocular immune privilege accelerate retinal degeneration in retinitis pigmentosa
Authors: Mohan K. Varsha , Mishra Alaknanda , Muniyasamy Abaranjitha , Sinha Prakriti , Sahu Parul , Kesarwani Ashwani , Jain Kshama , Nagarajan Perumal , Scaria Vinod , Agarwal Manisha , Akhter Naseem S. , Gupta Chanda , Upadhyay Pramod 
Published: October 2022

Abstract
Background
Retinitis pigmentosa (RP) is a hereditary retinal disease which leads to visual impairment. The onset and progression of RP has physiological consequences that affects the ocular environment. Some of the key non-genetic factors which hasten the retinal degeneration in RP include oxidative stress, hypoxia and ocular inflammation. In this study, we investigated the status of the ocular immune privilege during retinal degeneration and the effect of ocular immune changes on the peripheral immune system in RP. We assessed the peripheral blood mononuclear cell stimulation by retinal antigens and their immune response status in RP patients. Subsequently, we examined alterations in ocular immune privilege machineries which may contribute to ocular inflammation and disease progression in rd1 mouse model.

Results
In RP patients, we observed a suppressed anti-inflammatory response to self-retinal antigens, thereby indicating a deviated response to self-antigens. The ocular milieu in rd1 mouse model indicated a significant decrease in immune suppressive ligands and cytokine TGF-B1, and higher pro-inflammatory ocular protein levels. Further, blood–retinal-barrier breakdown due to decrease in the expression of tight junction proteins was observed. The retinal breach potentiated pro-inflammatory peripheral immune activation against retinal antigens and caused infiltration of the peripheral immune cells into the ocular tissue.

Conclusions
Our studies with RP patients and rd1 mouse model suggest that immunological consequences in RP is a contributing factor in the progression of retinal degeneration. The ocular inflammation in the RP alters the ocular immune privilege mechanisms and peripheral immune response. These aberrations in turn create an auto-reactive immune environment and accelerate retinal degeneration.
Orthodontic and dentofacial orthopedic treatments in patients with ectodermal dysplasia: a systematic review
Authors: Cerezo-Cayuelas Marina , Pérez-Silva Amparo , Serna-Muñoz Clara , Vicente Ascensión , Martínez-Beneyto Yolanda , Cabello-Malagón Inmaculada , Ortiz-Ruiz Antonio José 
Published: October 2022

Abstract
Objective
The objective of this systematic review was to determine the orthodontic and dentofacial orthopedic treatments carried out in patients with ectodermal dysplasia to facilitate functional and aesthetic rehabilitation.

Methods
The systematic review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-analysis statement. We systematically searched PubMed, Web of Science, Scopus, Scielo, LILACS, EBSCOhost and Embase databases up to 6 January 2022. We included articles describing patients with any type of ectodermal dysplasia who received orthodontic or dentofacial orthopedic treatment to facilitate functional and aesthetic oral rehabilitation. The search was not restricted by language or year of publication. The quality of the studies was assessed using the Joanna Briggs Institute Quality Assessment Scale of the University of Adelaide for case series and case reports. The review was registered at the University of York Centre for reviews (CRD42021288030).

Results
Of the initial 403 studies found, 29 met the inclusion criteria. After applying the quality scale, 23 were left for review—21 case reports and 2 case series. The initial age of patients ranged from 34 months to 24 years. Thirteen studies were on hypohidrotic and/or anhidrotic ectodermal dysplasia, of which two were X-chromosome linked. In one study, the patient had Wiktop syndrome, and in nine the type of ectodermal dysplasia was not specified. The duration of treatment was 7 weeks to 10 years. The treatments described were: fixed orthodontic appliances or simple acrylic plates designed for tooth movement, including leveling and aligning, closing of diastemata, retraction of impacted teeth in the dental arch; clear aligners; fixed and/or removable appliances for the correction of skeletal and/or dentoalveolar relationships; palatal expanders in combination with face masks for orthopedic traction of the maxilla; and orthognathic surgery. Only three studies provided cephalometric data.

Conclusion
The level of evidence of the articles reviewed was low and most orthopedic and dentofacial orthodontic treatments described were focused on correcting dental malpositioning and jaw asymmetries and not on stimulating growth from an early age. Studies with greater scientific evidence are needed to determine the best treatment for these patients.
Tau interactome and RNA binding proteins in neurodegenerative diseases
Authors: Kavanagh Tomas , Halder Aditi , Drummond Eleanor 
Published: October 2022

AbstractPathological tau aggregation is a primary neuropathological feature of many neurodegenerative diseases. Intriguingly, despite the common presence of tau aggregates in these diseases the affected brain regions, clinical symptoms, and morphology, conformation, and isoform ratio present in tau aggregates varies widely. The tau-mediated disease mechanisms that drive neurodegenerative disease are still unknown. Tau interactome studies are critically important for understanding tauopathy. They reveal the interacting partners that define disease pathways, and the tau interactions present in neuropathological aggregates provide potential insight into the cellular environment and protein interactions present during pathological tau aggregation. Here we provide a combined analysis of 12 tau interactome studies of human brain tissue, human cell culture models and rodent models of disease. Together, these studies identified 2084 proteins that interact with tau in human tissue and 1152 proteins that interact with tau in rodent models of disease. Our combined analysis of the tau interactome revealed consistent enrichment of interactions between tau and proteins involved in RNA binding, ribosome, and proteasome function. Comparison of human and rodent tau interactome studies revealed substantial differences between the two species. We also performed a second analysis to identify the tau interacting proteins that are enriched in neurons containing granulovacuolar degeneration or neurofibrillary tangle pathology. These results revealed a timed dysregulation of tau interactions as pathology develops. RNA binding proteins, particularly HNRNPs, emerged as early disease-associated tau interactors and therefore may have an important role in driving tau pathology.
Exploratory study to assess feasibility of intracerebral hemorrhage detection by point of care cranial ultrasound
Authors: Sarwal Aarti , Patel Yash , D’Agostino Ralph , Brown Patrick , Wolfe Stacey Q. , Bushnell Cheryl , Glass Casey , Duncan Pamela 
Published: October 2022

Abstract
Background
Limited studies have evaluated the use of ultrasound for detection of intracerebral hemorrhage (ICH) using diagnostic ultrasound Transcranial Doppler machines in adults. The feasibility of ICH detection using Point of care Ultrasound (POCUS) machines has not been explored. We evaluated the feasibility of using cranial POCUS B mode imaging performed using intensive care unit (ICU) POCUS device for ICH detection with a secondary goal of mapping optimal imaging technique and brain topography likely to affect sensitivity and specificity of ICH detection with POCUS.

Materials and methods
After obtaining IRB approval, a blinded investigator performed cranial ultrasound (Fujifilm, Sonosite® Xporte, transcranial and abdominal presets) through temporal windows on 11 patients with intracerebral pathology within 72 h of last CT/MRI (computed tomography scan/magnetic resonance imaging) brain after being admitted to a neurocritical care unit in Aug 2020 and Nov 2020–Mar 2021. Images were then compared to patient’s CT/MRI to inform topography. Inferential statistics were reported.

Results
Mean age was 57 (28–77 years) and 6/11 were female. Six patients were diagnosed with ICH, 3 with ischemic stroke, 1 subarachnoid hemorrhage, and 1 brain tumor. The sensitivity and specificity of point of care diagnosis of ICH compared to CT/MRI brain was 100% and 50%, respectively. Mean time between ultrasound scan and CT/MRI was 13.3 h (21 min–39 h). Falx cerebri, choroid calcification and midbrain-related artifacts were the most reproducible hyperechoic signals. Abdominal preset on high gain yielded less artifact than Transcranial Doppler preset for cranial B mode imaging. False positive ICH diagnosis was attributed to intracerebral tumor and midbrain-related artifact.

Conclusions
Our exploratory analysis yielded preliminary data on use of point of care cranial ultrasound for ICH diagnosis to inform imaging techniques, cranial topography on B mode and sample size estimation for future studies to evaluate sensitivity and specificity of cranial POCUS in adult patients. This pilot study is limited by small sample size and over representation of ICH in the study. Cranial POCUS is feasible using POCUS machines and may have potential as a screening tool if validated in adequately powered studies.
Intravenous fluid therapy in patients with severe acute pancreatitis admitted to the intensive care unit: a narrative review
Authors: Crosignani Andrea , Spina Stefano , Marrazzo Francesco , Cimbanassi Stefania , Malbrain Manu L. N. G. , Van Regenmortel Niels , Fumagalli Roberto , Langer Thomas 
Published: October 2022

AbstractPatients with acute pancreatitis (AP) often require ICU admission, especially when signs of multiorgan failure are present, a condition that defines AP assevere. This disease is characterized by a massive pancreatic release of pro-inflammatory cytokines that causes a systemic inflammatory response syndrome and a profound intravascular fluid loss. This leads to a mixed hypovolemic and distributive shock and ultimately to multiorgan failure. Aggressive fluid resuscitation is traditionally considered the mainstay treatment of AP. In fact, all available guidelines underline the importance of fluid therapy, particularly in the first 24–48 h after disease onset. However, there is currently no consensus neither about the type, nor about the optimal fluid rate, total volume, or goal of fluid administration. In general, a starting fluid rate of 5–10 ml/kg/h of Ringer’s lactate solution for the first 24 h has been recommended. Fluid administration should be aggressive in the first hours, and continued only for the appropriate time frame, being usually discontinued, or significantly reduced after the first 24–48 h after admission. Close clinical and hemodynamic monitoring along with the definition of clear resuscitation goals are fundamental. Generally accepted targets are urinary output, reversal of tachycardia and hypotension, and improvement of laboratory markers. However, the usefulness of different endpoints to guide fluid therapy is highly debated. The importance of close monitoring of fluid infusion and balance is acknowledged by most available guidelines to avoid the deleterious effect of fluid overload. Fluid therapy should be carefully tailored in patients with severe AP, as for other conditions frequently managed in the ICU requiring large fluid amounts, such as septic shock and burn injury. A combination of both noninvasive clinical and invasive hemodynamic parameters, and laboratory markers should guide clinicians in the early phase of severe AP to meet organ perfusion requirements with the proper administration of fluids while avoiding fluid overload. In this narrative review the most recent evidence about fluid therapy in severe AP is discussed and an operative algorithm for fluid administration based on an individualized approach is proposed.