bluuebunny/crossref_metadata_2025_split huggingface dataset:
Rate of Insufficient Ipsilateral Hamstring Graft Harvesting in Primary Anterior Cruciate Ligament Reconstruction
Authors: Charalambous Charalambos P. , Kwaees Tariq A. , Lane Suzanne , Blundell Clare , Mati Wael 
Published: April 2021

AbstractAnterior cruciate ligament (ACL) reconstruction, using an ipsilateral hamstring graft, may necessitate an alternative graft source if the obtained graft is insufficient with regards to length or diameter. The study aims to determine the rate of insufficient ipsilateral hamstring graft harvesting in primary ACL reconstruction. Retrospective review of 50 consecutive primary ACL reconstructions performed by a single surgeon in the United Kingdom. In 3 of 50 cases, there was insufficient ipsilateral hamstring graft harvesting and a contralateral hamstring graft was used. In two cases, this was due to premature division of the ipsilateral hamstring tendons (3/100 harvested tendons). In one case, an adequate length of semitendinosus was obtained, but its central portion was too thin. Retrospective review of preoperative magnetic resonance imaging identified the thin part of the tendon in the latter case. Insufficient ipsilateral hamstring graft harvesting is a recognized, yet unusual intraoperative complication in primary ACL reconstruction. Presurgical planning as to how to manage such complications is essential.
Novel Radiological Brain Anomalies in a Patient with Congenital Muscular Dystrophy due to FKRP Mexican Founder Mutation c.1387A > G: Review of the Literature
Authors: Cervera-Gaviria Marivi , Enterría-Rosales Julia , Juárez-Vignon-Whaley Juan José , García-Sánchez Julián , Treviño-Velasco Rodrigo , Cervera-Gaviria Jaime 
Published: April 2021

AbstractMutations in the FKRP gene result in phenotypes with severe forms of congenital muscular dystrophies (CMD) and limb-girdle muscular dystrophies. We present a Mexican patient with a pathogenic homozygous mutation in the FKRP gene (c.1387A > G, p.Asn463Asp) and CMD with radiological brain anomalies as disseminated hyperintensity lesions and discrete generalized cortical atrophy. These findings have not been reported to the best of our knowledge in other patients with the same mutation. The mutation c.1387A > G, p.Asn463Asp in the FKRP gene has been described to have a founder effect in central Mexico, since all the patients described to date are of Hispanic origin. Therefore, we emphasize studying mutations in the FKRP gene in Hispanic pediatric patients with clinical suspicion of CMD. Clinical and molecular diagnosis of specific CMD subtypes is needed to help clarify the prognosis, management, and genetic counseling to the patient and families.
Monogenic Epilepsies: Channelopathies, Synaptopathies, mTorpathies, and Otheropathies
Authors: Praticò Andrea D. , Falsaperla Raffaele , Polizzi Agata , Ruggieri Martino 
Published: April 2021

AbstractEpilepsy has been historically defined as the recurrence of two or more seizures, together with typical electroencephalogram (EEG) changes, and significant comorbidities, including cardiac and autonomic changes, injuries, intellectual disability, permanent brain damage, and higher mortality risk. Epilepsy may be the consequence of several causes, including genetic anomalies, structural brain malformations, hypoxic–ischemic encephalopathy, brain tumors, drugs, and all contributing factors to the imbalance between excitatory and inhibitory neurons and modulatory interneurons which in turn provoke abnormal, simultaneous electric discharge(s) involving part, or all the brain. In the pregenetic, pregenomic era, in most cases, the exact cause of such neuronal/interneuronal disequilibrium remained unknown and the term “idiopathic epilepsy” was used to define all the epilepsies without cause. At the same time, some specific epileptic syndromes were indicated by the eponym of the first physician who originally described the condition (e.g., the West syndrome, Dravet syndrome, Ohtahara syndrome, and Lennox–Gastaut syndrome) or by some characteristic clinical features (e.g., nocturnal frontal lobe epilepsy, absence epilepsy, and epilepsy and mental retardation limited to females). In many of these occurrences, the distinct epileptic syndrome was defined mainly by its most relevant clinical feature (e.g., seizure semiology), associated comorbidities, and EEGs patterns. Since the identification of the first epilepsy-associated gene (i.e., CHRNA4 gene: cholinergic receptor neuronal nicotinic α polypeptide 4), one of the genes responsible for autosomal dominant nocturnal frontal lobe epilepsy (currently known as sleep-related hypermotor epilepsy) in 1995, the field of epilepsy and the history of epilepsy gene discoveries have gone through at least three different stages as follows: (1) an early stage of relentless gene discovery in monogenic familial epilepsy syndromes; (2) a relatively quiescent and disappointing period characterized by largely negative genome-wide association candidate gene studies; and (3) a genome-wide era in which large-scale molecular genetic studies have led to the identification of several novel epilepsy genes, especially in sporadic forms of epilepsy. As of 2021, more than 150 epilepsy-associated genes or loci are listed in the Online Mendelian Inheritance in Man database.
Free Flap Reconstruction of Traumatic Pediatric Foot and Ankle Defects: An Analysis of Clinical and Functional Outcomes
Authors: Parikh Rajiv P. , Ha Austin , Tung Thomas 
Published: April 2021

Abstract
Background Traumatic lower extremity injuries involving the foot and ankle can have devastating consequences and represent a complex reconstructive challenge. To date, there are limited reports on microsurgical reconstruction for foot and ankle defects in children. This study aims to evaluate clinical and functional outcomes of free flaps for pediatric foot and ankle injuries.
Methods This is a retrospective review of patients undergoing free flaps for traumatic foot and ankle defects at a pediatric trauma center between 2000 and 2015. Patients with less than 5-year follow-up were excluded. Demographics, clinical characteristics, and postoperative outcomes were evaluated.
Results Thirty patients undergoing 30 flaps were analyzed. The mean age was 11.9 years (range: 2 to 17 years). Muscle flaps (n = 21, 70%) were more common than fasciocutaneous flaps (n = 9, 30%). Limb salvage with functional ambulation was achieved in 96.7% of patients (n = 29). The complication rate was 33.3% (n = 10), with wound breakdown (n = 6, 20.0%) as most common feature. There were no significant differences in limb salvage, total or partial flap loss, fracture union, and donor-site complications based on flap type. Fasciocutaneous flaps were more likely to require revision procedures for contour compared with muscle flaps (55.6 vs. 9.5%, p = 0.013). Mean follow-up was 8.5 years.
Conclusion Microsurgical reconstruction of pediatric foot and ankle defects results in high rates of limb salvage. A defect- and patient-centered approach to reconstruction, emphasizing durable coverage and contour, is critical to facilitating ambulation and ensuring favorable long-term functional outcomes.
Stratification of Surgical Risk in DIEP Breast Reconstruction Based on Classification of Obesity
Authors: Patterson Charles W. , Palines Patrick A. , Bartow Matthew J. , Womac Daniel J. , Zampell Jamie C. , Dupin Charles L. , St Hilaire Hugo , Stalder Mark W. 
Published: April 2021

Abstract
Background From both a medical and surgical perspective, obese breast cancer patients are considered to possess higher risk when undergoing autologous breast reconstruction relative to nonobese patients. However, few studies have evaluated the continuum of risk across the full range of obesity. This study sought to compare surgical risk between the three World Health Organization (WHO) classes of obesity in patients undergoing deep inferior epigastric perforator (DIEP) flap breast reconstruction.
Methods A retrospective review of 219 obese patients receiving 306 individual DIEP flaps was performed. Subjects were stratified into WHO obesity classes I (body mass index [BMI]: 30–34), II (BMI: 35–39), and III (BMI: ≥ 40) and assessed for risk factors and postoperative donor and recipient site complications.
Results When examined together, the rate of any complication between the three groups only trended toward significance (p = 0.07), and there were no significant differences among rates of specific individual complications. However, logistic regression analysis showed that class III obesity was an independent risk factor for both flap (odds ratio [OR]: 1.71, 95% confidence interval [CI]: 0.91–3.20, p = 0.03) and donor site (OR: 2.34, 95% CI: 1.09–5.05, p = 0.03) complications.
Conclusion DIEP breast reconstruction in the obese patient is more complex for both the patient and the surgeon. Although not a contraindication to undergoing surgery, obese patients should be diligently counseled regarding potential complications and undergo preoperative optimization of health parameters. Morbidly obese (class III) patients should be approached with additional caution, and perhaps even delay major reconstruction until specific BMI goals are met.
SCN1A and Its Related Epileptic Phenotypes
Authors: Sullo Federica , Pasquetti Elisa , Patanè Francesca , Lo Bianco Manuela , Marino Simona D. , Polizzi Agata , Falsaperla Raffaele , Ruggieri Martino , Zanghì Antonio , Praticò Andrea D. 
Published: April 2021

AbstractEpilepsy is one of the most common neurological disorders, with a lifetime incidence of 1 in 26. Approximately two-thirds of epilepsy has a substantial genetic component in its etiology. As a result, simultaneous screening for mutations in multiple genes and performing whole exome sequencing (WES) are becoming very frequent in the clinical evaluation of children with epilepsy. In this setting, mutations in voltage-gated sodium channel (SCN) α-subunit genes are the most commonly identified cause of epilepsy, with sodium channel genes (i.e., SCN1A, SCN2A, SCN8A) being the most frequently identified causative genes. SCN1A mutations result in a wide spectrum of epilepsy phenotypes ranging from simple febrile seizures to Dravet syndrome, a severe epileptic encephalopathy. In case of mutation of SCN1A, it is also possible to observe behavioral alterations, such as impulsivity, inattentiveness, and distractibility, which can be framed in an attention deficit hyperactivity disorder (ADHD) like phenotype. Despite more than 1,200 SCN1A mutations being reported, it is not possible to assess a clear phenotype–genotype correlations. Treatment remains a challenge and seizure control is often partial and transitory.
Gender-Wise Comparative Assessment of Lifestyle Patterns and Well-Being Status among Healthcare Employees at a Tertiary Care Hospital
Authors: Velam Vanajakshamma , Kancherla Vyshnavi , Kasala Latheef , Kancherla Anusha , Pillaram Mounica Reddy 
Published: April 2021

Abstract

Background This study was an attempt to assess and compare the gender-wise lifestyle patterns and well-being status among the employees of a tertiary care teaching hospital.

Material and Methods This is a cross-sectional, questionnaire-based study conducted at a tertiary care hospital between May and August 2019. A total of 777 employees belonging to both genders (male and female) and working at different professional levels were assessed. All the enrolled employees were subjected to a comprehensive study tool consisting of various dimensions of their health, which included physical, mental, social, spiritual and intellectual health dimensions.

Results Among the participants, 327 (42.1%) were male and 450 (57.9%) were female. There was no significant difference in the mean age of male (37.91 ± 7.52) and female (36.85 ± 8.16) employees (p = 0.07). A significantly higher proportion of diabetes and hypertension were seen in male employees (9.8% and 14.4%, respectively) than in female (5.6% and 6.2% respectively). The overall well-being was better in male employees than in females and was statistically significant (p < 0.0001). We found that male employees had statistically significant better well-being in terms of physical, mental and social health whereas female employees had intellectual health.

Conclusion The overall well-being in healthcare staff was good at our tertiary care hospital, and the outstanding/good well-being rate was higher in male employees than in female employees. Female employees experienced risks with regard to their physical health.
Prophylaxis of Rheumatic Fever/Rheumatic Heart Disease–Penicillin or Azithromycin, Who Wins?
Authors: Lalchandani Arati , Lalchandani Taruni , Ahmad Lubna , Lalchandani Devarth 
Published: April 2021

Abstract
For eradication of rheumatic fever (RF)/rheumatic heart disease (RHD), we must have a simplified diagnosis, and a treatment which is painless, easily available and safe; prophylaxis must be painless, safe, easily available, readily administered, and comprising a weekly oral single dose.
Arati's regime for management of RF/RHD (ARMOR) consists of diagnosis and management of RF/RHD in today's context in a very easy and simplified way.
ARMOR criteria: Arthritis or arthralgia with typical features suggestive of RF, carditis or cardiac involvement, typical of RF or RHD, and echocardiographic evidence of rheumatic heart valve involvement should essentially be the criteria to diagnose RF and RHD with high specificity and sensitivity.
With regard to treatment of RF/RHD, we need a drug which is highly efficacious against Group A Beta Hemolytic Streptococcus (GABHS), which is the causative agent for primary prevention and treatment and secondary prophylaxis.
The best drug discovered, to date, for GABHS is azithromycin.
ARMOR for primary prevention, treatment and secondary prophylaxis of RF/RHD is as follows:
Azithromycin must be given in a dose of 500 mg 1 tablet daily for 5 days, followed by 1 tablet once a week for 1 year.
Penicillin for treatment and prophylaxis must be given up due to its lack of availability, side effects, risk of anaphylaxis, parenteral preparation, hazards of administration, need for sensitivity test each time, etc. and replaced by azithromycin.
MECP2-Related Disorders and Epilepsy Phenotypes
Authors: Sauna Alessandra , Sciuto Laura , Criscione Roberta , Messina Giulia , Presti Santiago , Soma Rachele , Oliva Claudia , Salafia Stefania , Falsaperla Raffaele 
Published: April 2021

Abstract
MECP2 (methyl-CpG binding protein-2) gene, located on chromosome Xq28, encodes for a protein particularly abundant in the brain that is required for maturation of astrocytes and neurons and is developmentally regulated. A defective homeostasis of MECP2 expression, either by haploinsufficiency or overexpression, leads to a neurodevelopmental phenotype. As MECP2 is located on chromosome X, the clinical presentation varies in males and females ranging from mild learning disabilities to severe encephalopathies and early death. Typical Rett syndrome (RTT), the most frequent phenotype associated with MECP2 mutations, primarily affects girls and it was previously thought to be lethal in males; however, MECP2 duplication syndrome, resulting from a duplication of the Xq28 region including MECP2, leads to a severe neurodevelopmental disorder in males. RTT and MECP2 duplication syndrome share overlapping clinical phenotypes including intellectual disabilities, motor deficits, hypotonia, progressive spasticity, and epilepsy. In this manuscript we reviewed literature on epilepsy related to MECP2 disorders, focusing on clinical presentation, genotype–phenotype correlation, and treatment.
A Novel Pathogenic Variant in the MN1 Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome
Authors: Palma Milla Carmen , Patricia Pérez Mohand , Lezana José M. , Cruz Jaime , Quesada Juan F. , Vila Sara , Álvarez-Mora Isabel , Arteche-López Ana , Gómez-Manjón Irene , Sánchez M. Teresa , Gómez-Rodríguez Maria José , Sánchez Jaime , Moreno-García Marta 
Published: April 2021

AbstractMeningioma-1 is a transcription activator that regulates mammalian palate development and is required for appropriate osteoblast proliferation, motility, differentiation, and function. Microdeletions involving the MN1 gene have been linked to syndromes including craniofacial anomalies, such as Toriello–Carey syndrome. Recently, truncating variants in the C-terminal portion of the MN1 transcriptional factor have been linked to a characteristic and distinct phenotype presenting with craniofacial anomalies and partial rhombencephalosynapsis, a rare brain malformation characterized by midline fusion of the cerebellar hemispheres with partial or complete loss of the cerebellar vermis. It has been called MN1 C-terminal truncation (MCTT) syndrome or CEBALID (Craniofacial defects, dysmorphic Ears, Brain Abnormalities, Language delay, and Intellectual Disability) and suggested to be caused by dominantly acting truncated protein MN1 instead of haploinsufficiency. As a proto-oncogene, MN1 is also involved in familial meningioma. In this study, we present a novel case of MCTT syndrome in a female patient presenting with craniofacial anomalies and rhombencephalosynapsis, harboring a de novo pathogenic variant in the MN1 gene: c.3686_3698del, p.(Met1229Argfs*87).
Utility of Epilepsy Surgery in Survivors of Childhood Cancer
Authors: Siddiqui Ayat , McGregor Amy L. , Wheless James W. , Klimo Paul , Boop Frederick A. , Khan Raja B. 
Published: April 2021

AbstractResection of an epileptogenic focus improves seizure control in patients with drug-resistant epilepsy. There is little data available on usefulness of epilepsy surgery in childhood cancer survivors with drug-resistant epilepsy. To learn about seizure outcome after epilepsy surgery in childhood cancer survivors, we retrospectively reviewed charts of 42 children who were referred to an epilepsy center for surgical evaluation. Sixteen children (38%) were offered epilepsy surgery and 10 consented. Seizure outcome was classified based on International League Against Epilepsy outcome scale. All 10 children were having multiple seizures a month on therapeutic doses of three antiepilepsy drugs (AEDs). At a median follow-up of 5.6 years after epilepsy surgery, three children had class 1 outcome (no seizures), four had class 3 outcome (1–3 seizure days/year), and three had class 4 outcome (≥ 50% reduction in seizure frequency). One child was off AEDs, seven were on a single AED, and two were on three AEDs at their last follow-up. Epilepsy surgery had low morbidity and improved seizure control in childhood cancer survivors with drug-resistant epilepsy. Childhood cancer survivors with drug-resistant epilepsy should be referred to an epilepsy center for a higher level of care.
Two sources of uncertainty independently modulate temporal expectancy
Authors: Grabenhorst Matthias , Maloney Laurence T. , Poeppel David , Michalareas Georgios 
Published: April 2021

Significance
Biological organisms seek to reduce the uncertainty surrounding future events. Every possible event carries two distinct kinds of uncertainty: Will the event happen? And if it will happen, when exactly? It is commonly believed that the probability of whether an event occurs has a static effect on expectancy. However, here, we demonstrate that the effect is highly dynamic across time. We further show that the uncertainties about whether and when an event will occur independently shape anticipatory behavior. The results deepen our understanding of how the human brain interacts with the temporal structure of its environment.
Fusarium oxysporum f.sp. niveum (Fusarium wilt of watermelon).
Authors: Keinath Anthony 
Published: April 2021

Abstract

Fusarium wilt of watermelon occurs throughout the world and is often a limiting factor in watermelon production. In China, 20-30% of watermelon production is normally lost in infested areas, and 100% mortality has been observed in fields planted with susceptible cultivars in Zhejiang Province (Lin, 1990). In a survey of 62 watermelon crops grown in plastic tunnels throughout the main production area of Cyprus, Fusarium wilt was found in all fields sampled despite the use of resistant cultivars (mainly Crimson Sweet). Mean incidence ranged from 37 to 70% in 1985 and 1986, and mean yields of marketable fruit were 38 and 10 t/ha, respectively (Ioannou and Poullis, 1991). In Aydin Province, Turkey, incidence ranged from 0.2 to 12% in fields in which the pathogen was isolated from symptomatic plants (Erİncİk and Döken, 2018). In Spain, in soil infested with unidentified races of F. oxysporum f.sp. niveum, yield loss in a triploid cultivar was 42 to 68% (Miguel et al., 2004). In South Carolina and Georgia, USA, yield losses in research fields naturally infested with race 2 averaged 62 and 83%, respectively, which represented a 91 and 55% loss in net returns per hectare, respectively, based on an average price of $USD 0.35 per kilogram of seedless watermelon fruit (Keinath et al., 2019a).
The Emerging Authority of Magistrate Judges within US District Courts
Authors: Boyd Christina L. , George Tracey E. , Yoon Albert H. 
Published: April 2021

AbstractThe federal judicial system is a hierarchy with district courts at the bottom, courts of appeals in the middle, and the Supreme Court at the top. A second, less visible, judicial hierarchy exists within district courts, with magistrate judges situated below district judges. Existing scholarship largely ignores magistrate judges, assuming they are agents tasked with procedural matters with little independent effect on federal courts adjudication. Using a combination of national administrative data (2000–2016) and original case-level data from nine district courts (1997–2014), we find that district courts not only grant meaningful responsibility and discretion to magistrate judges but do so in ways that vary substantially across and within districts. The effects of this judicial delegation extend from procedural rulings to substantive outcomes. Our findings provide evidence that a complete understanding of federal judicial decision making accounts for the roles—procedural and substantive—that magistrate judges perform.
Remarks on the factorization and monotonicity method for inverse acoustic scatterings
Authors: Furuya Takashi 
Published: April 2021

Abstract
We study the factorization and monotonicity method for inverse acoustic scattering problems. Firstly, we give a new general functional analysis theorem for the monotonicity method. Comparing with the factorization method, the general theorem of the monotonicity generates reconstruction schemes under weaker a priori assumptions for unknown targets, and can directly deal with mixed problems so that the unknown targets have several different boundary conditions. Using the general theorem, we give the reconstruction scheme for the mixed crack that the Dirichlet boundary condition is imposed on one side of the crack and the Neumann boundary condition on the other side, which is a new extension of the monotonicity method.