bluuebunny/crossref_metadata_2025_split huggingface dataset:
Damaging Mutations in AFDN Contribute to Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate
Authors: Awotoye Waheed , Mossey Peter A , Hetmanski Jacqueline B , Gowans Lord J J , Eshete Mekonen A , Adeyemo Wasiu L , Alade Azeez , Zeng Erliang , Adamson Olawale , James Olutayo , Fashina Azeez , Ogunlewe Modupe O , Naicker Thirona , Adeleke Chinyere , Busch Tamara , Li Mary , Petrin Aline , Oladayo Abimbola , Kayali Sami , Olotu Joy , Sule Veronica , Hassan Mohaned , Pape John , Aladenika Emmanuel T , Donkor Peter , Arthur Fareed K N , Obiri-Yeboah Solomon , Sabbah Daniel K , Agbenorku Pius , Ray Debashree , Plange-Rhule Gyikua , Oti Alexander Acheampong , Albokhari Daniah , Sobreira Nara , Dunnwald Martine , Beaty Terri H , Taub Margaret , Marazita Mary L , Adeyemo Adebowale A , Murray Jeffrey C , Butali Azeez 
Published: November 2022

Novel or rare damaging mutations have been implicated in the developmental pathogenesis of nonsyndromic cleft lip with or without cleft palate (nsCL ± P). Thus, we investigated the human genome for high-impact mutations that could explain the risk of nsCL ± P in our cohorts. We conducted next-generation sequencing (NGS) analysis of 130 nsCL ± P case-parent African trios to identify pathogenic variants that contribute to the risk of clefting. We replicated this analysis using whole-exome sequence data from a Brazilian nsCL ± P cohort. Computational analyses were then used to predict the mechanism by which these variants could result in increased risks for nsCL ± P. We discovered damaging mutations within the AFDN gene, a cell adhesion molecule (CAMs) that was previously shown to contribute to cleft palate in mice. These mutations include p.Met1164Ile, p.Thr453Asn, p.Pro1638Ala, p.Arg669Gln, p.Ala1717Val, and p.Arg1596His. We also discovered a novel splicing p.Leu1588Leu mutation in this protein. Computational analysis suggests that these amino acid changes affect the interactions with other cleft-associated genes including nectins (PVRL1, PVRL2, PVRL3, and PVRL4) CDH1, CTNNA1, and CTNND1. This is the first report on the contribution of AFDN to the risk for nsCL ± P in humans. AFDN encodes AFADIN, an important CAM that forms calcium-independent complexes with nectins 1 and 4 (encoded by the genes PVRL1 and PVRL4). This discovery shows the power of NGS analysis of multiethnic cleft samples in combination with a computational approach in the understanding of the pathogenesis of nsCL ± P.
The safety and effectiveness of the Contour Neurovascular System for the treatment of wide-necked aneurysms: A systematic review and meta-analysis of early experience
Authors: Ghozy Sherief , Lashin Basant I , Elfil Mohamed , Bilgin Cem , Kobeissi Hassan , Shehata Mostafa , Kadirvel Ramanathan , Kallmes David F 
Published: November 2022

Background The Contour is a new generation intrasaccular flow disruption tool that aims to cover the aneurysm neck and is sized according to the neck diameter. While several case series have been published, no literature review has been performed on this promising device. Objective To assess the safety and effectiveness profile of the Contour Neurovascular System for wide-necked aneurysms. Methods We followed the recommendations of the PRISMA checklist Four databases were searched with a supplemental manual search. All data were analyzed using R software version 4.2.1. Results We finally included six studies with 131 treated aneurysms. The overall procedural time was 97.27 (95% CI = 70.07–124.47) minutes, ranging from 78.9 to 136.0 min. The pooled adequate occlusion rate was 84.21% (95% CI = 75.45–90.25), and the overall functional independence rate was 94.74% (87.97–97.79). The overall adverse event rate was 4.70 (95% CI = 3.24–6.76), varying among different events from 0.78 to 8.53%. Thromboembolic events were the most commonly encountered in 8.53% of the patients (95% CI = 4.78–14.74), followed by headache and minor stroke with incidence rates of 5.88 (95% CI = 2.83–11.83) and 4.35 (95% CI = 1.41–12.63), respectively. The overall procedural time in studies using the Contour system only was 86.17 (95% CI = 68.70–10.64) minutes, while it was 136 (95% CI = 90.96–181.04) in the Contour-assisted coiling procedures. However, both techniques were comparable regarding adequate occlusion rates and functional independence. Conclusion With the anticipation of future studies, the Contour Neurovascular System is a safe and effective treatment option for wide-necked intracranial aneurysms.
Two-year follow-up after treatment of an aortic transection in the presence of an aberrant right subclavian artery
Authors: Warm Tobias D , Gosslau Yvonne , Scheurig-Muenkler Christian , Hyhlik-Duerr Alexander 
Published: November 2022

Objectives An aberrant right subclavian artery (ARSA) is one of the most common anatomic variants of the aortic arch. The combination of an ARSA and a transection is naturally rare. Methods This case report describes the treatment of a transection in the presence of an ARSA and the follow-up of two years. Results We successfully treated the contained rupture with a stentgraft. Both subclavian arteries had to be covered in the emergency setting. At the two-year follow-up, the patient did not suffer from any neurological impairment. Conclusions In emergency settings, primary cover of both subclavian arteries with a stentgraft can be performed in individual cases after risk assessment. Severe complications such as development of upper limb ischaemia, ASAS or reduced perfusion of the posterior cerebral circulation should be considered in treatment planning.
COVID-19 related peripheral arterial thrombotic events in intensive care unit and non-intensive care unit patients: A retrospective case series
Authors: Nana Petroula , Dakis Konstantinos , Spanos Konstantinos , Tsolaki Vasiliki , Karavidas Nikitas , Zakynthinos George , Kouvelos George , Giannoukas Athanasios , Matsagkas Miltiadis 
Published: November 2022

Objectives COVID-19 associated arterial thrombosis has been attributed to multiple inflammation and coagulation mechanisms. The aim of this study was to report the experience of a tertiary center on COVID-19 patients managed for acute peripheral arterial thrombosis. Methods A single-center case series was conducted, including retrospectively collected data from all COVID-19 patients presenting arterial thrombosis, from March 2020 to February 2022. Intensive care unit (ICU) and non-ICU cases were included. The primary outcomes were mortality, successful revascularization, and amputation at 30 days. Results Twenty patients presented peripheral arterial thrombosis (90% males, mean age 65 years (16–82 years)). Eighteen were diagnosed with the Delta variant and none was previously vaccinated. All cases presented acute lower limb ischemia; in 20% with bilateral involvement. Nine patients were hospitalized in the ward while 11 in the ICU. From the non-ICU cases, five presented Rutherford IIb and four cases, Rutherford’s IIa ischemia. Six cases underwent revascularization (67%). Two of them were finally amputated (33%) and two died during hospitalization (33%). Two revascularizations were considered successful (33%). The ICU group presented mainly with Rutherford’s III ischemia (54.5%). The mortality in the ICU cohort was 72.7%. Only one patient underwent successful revascularization and two were amputated in this subgroup. Early mortality was 50% for the total cohort while the type of management was not related to mortality. Conclusions Covid-19 related arterial thrombosis in non-vaccinated population is associated with 50% early mortality; increased up to 72% in the ICU patients. The amputation rate was 20% while only 40% of the revascularizations were considered successful.
Making Space for Midwifery in a Hospital: Exploring the Built Birth Environment of Canada’s First Alongside Midwifery Unit
Authors: Murray-Davis Beth , Grenier Lindsay N. , Plett Rebecca A. , Mattison Cristina A. , Ahmed Maisha , Malott Anne M. , Cameron Carol , Hutton Eileen K. , Darling Elizabeth K. 
Published: November 2022

Background: Canada’s first alongside midwifery unit (AMU) was intentionally informed by evidence-based birth environment design principals, building on the growing evidence that the built environment can shape experiences, satisfaction, and birth outcomes. Objectives: To assess the impact of the built environment of the AMU for both service users and midwives. This study aimed to explore the meanings that individuals attribute to the built environment and how the built environment impacted people’s experiences. Methods: We conducted a mixed-methods study using a grounded theory methodology for data collection and analysis. Our research question and data collection tools were underpinned by a sociospatial conceptual approach. All midwives and all those who received midwifery care at the unit were eligible to participate. Data were collected through a structured online survey, interviews, and focus group. Results: Fifty-nine participants completed the survey, and interviews or focus group were completed with 28 service users and 14 midwives. Our findings demonstrate high levels of satisfaction with the birth environment. We developed a theoretical model, where “making space” for midwifery in the hospital contributed to positive birth experiences and overall satisfaction with the built environment. The core elements of this model include creating domestic space in an institutional setting, shifting the technological approach, and shared ownership of the unit. Conclusions: Our model for creating, shifting, and sharing as a way to make space for midwifery can serve as a template for how intentional design can be used to promote favorable outcomes and user satisfaction.
Stability of longitudinal DTI metrics in MS with treatment of injectables, fingolimod and dimethyl fumarate
Authors: Alshehri Abdulaziz , Al-iedani Oun , Koussis Nikitas , Khormi Ibrahim , Lea Rodney , Lechner-Scott Jeannette , Ramadan Saadallah 
Published: November 2022

Background and purpose Diffusion MRI (dMRI) is sensitive to microstructural changes in white matter of people with relapse-remitting multiple sclerosis (pw-RRMS) that lead to progressive disability. The role of diffusion in assessing the efficacy of different therapies requires more investigation. This study aimed to evaluate selected dMRI metrics in normal-appearing white matter and white matter-lesion in pw-RRMS and healthy controls longitudinally and compare the effect of therapies given. Material and methods Structural and dMRI scans were acquired from 78 pw-RRMS (29 injectables, 36 fingolimod, 13 dimethyl fumarate) and 43 HCs at baseline and 2-years follow-up. Changes in dMRI metrics and correlation with clinical parameters were evaluated. Results Differences were observed in most clinical parameters between pw-RRMS and HCs at both timepoints ( p ≤ 0.01). No significant differences in average changes over time were observed for any dMRI metric between treatment groups in either tissue type. Diffusion metrics in NAWM and WML correlated negatively with most cognitive domains, while FA correlated positively at baseline but only for NAWM at follow-up ( p ≤ 0.05). FA correlated negatively with disability in NAWM and WML over time, while MD and RD correlated positively only in NAWM. Conclusions This is the first DTI study comparing the effect of different treatments on dMRI parameters over time in a stable cohort of pw-RRMS. The results suggest that brain microstructural changes in a stable MS cohort are similar to HCs independent of the therapies used.
Increasing Rate of Shoulder Arthroplasty for Geriatric Proximal Humerus Fractures in the United States, 2010–2019
Authors: Shi Brendan Y , Upfill-Brown Alexander , Kelley Benjamin V , Brodke Dane J , Mayer Erik N , Devana Sai K , Kremen Thomas J , Lee Christopher 
Published: November 2022

Introduction The two historically dominant surgical options for displaced geriatric proximal humerus (PHFx) fractures are open reduction internal fixation (ORIF) and hemiarthroplasty (HA). However, shoulder arthroplasty (SA), predominantly in the form of reverse total shoulder arthroplasty (RTSA), has emerged as an attractive treatment option. We aim to compare the utilization trends, complications, and costs associated with surgical management of geriatric proximal humerus fractures (PHFs) between 2010 and 2019. We hypothesized that 1) the proportion of patients undergoing SA would increase over time, 2) the short-term complication rate in patients undergoing SA would decline over time, and 3) hospital related costs would decline for SA patients over time. Patients and Methods The National Inpatient Sample was queried from 2010 to 2019 to identify all PHFx in patients aged 65 or older that underwent ORIF, SA, or HA. Multivariable regression was used to evaluate differences between fixation methods regarding health care utilization metrics, hospital costs, and index hospital complications. The primary outcome of interest was the method of surgical management utilized in the treatment of geriatric PHFs, and secondary outcomes of interest included hospitalization cost, length of stay (LOS), discharge destination and index hospitalization complications. Results A total of 105 886 geriatric patients that underwent surgical management of PHFx were identified. While the proportion undergoing ORIF decreased from 59% to 29%, the proportion undergoing SA increased from 9% to 67%. Hospital costs decreased over time for patients treated with SA and increased for those treated with ORIF. Compared to ORIF, SA was associated with higher cost, decreased length of stay, and lower mortality and complication rates. Conclusion Over the last decade, SA has become the most common surgical treatment modality performed for geriatric PHFx. Index hospital complications are reduced in SA patients compared to ORIF patients, driven largely by a lower rate of blood transfusion. Although costs are decreasing and average length of stay is now lower in SA patients compared to ORIF patients, SA remains associated with higher hospital costs overall.
Hemiarthroplasty of the Ankle Joint: Mid-Term Results
Authors: Mombello Franco L. , Ortiz Cristian A. , Carcuro Giovanni M. , Pellegrini Manuel J. , Redlich Alex , Chaparro Felipe R. 
Published: November 2022

Category: Ankle Arthritis; Ankle Introduction/Purpose: Tendinopathy of the flexor hallucis longus is a common condition that occurs with considerable frequency, but in some specific situations, due to a content (tendon)/continent (retomalleolar groove) conflict, could manifest a scenario in which the tendon suffers entrapment during its entry to the tunnel and clinically represented as hallux saltans Methods: We present a case report of a young active patient without any of the conditions or etiological agents previously described in the literature that could explain the cause of this rare condition. After failing conservative treatment, we performed arthroscopic release of the tendon and the fibrous tunnel, achieving direct visualization and minimal soft tissue injury Results: At 6 months, the patient resumed sports and activity of daily living without any type of sequelae. Conclusion: Hallux saltans is a rare condition mostly idiopathic in its origin. After conservative measures fail, surgical management is an option, which consists of resecting FHL enlargement to its original width and freeing the fibro-osseous tunnel in the back of the talus in order to solve the space conflict during its normal gliding. An arthroscopic approach is optimal as it allows a good visualization without harming soft tissues and allowing a quicker recovery.
‘Haleem's Hen’: A Mnemonic for the Anatomy of Hindfoot Structures at the Level of Sustentaculum Tali on Coronal T1-Weighted Magnetic Resonance Images
Authors: Moritz Brandon W. , Amin Amgad M. Haleem 
Published: November 2022

Category: Hindfoot; Ankle Introduction/Purpose: Magnetic resonance anatomy of the hindfoot as seen at the level of the sustentaculum tali is intricate due to surrounding muscles, tendons, aponeurosis and ligaments. The objective of this work is to provide a mnemonic with illustrative figures to simplify this complex anatomical region on coronal T1-weighted magnetic resonance images (T1-MRIs). Methods: One hundred and twenty-four patients referred for foot and ankle complaints were scanned utilizing standard MRI imaging protocols for evaluation of the hindfoot. Only coronal T1-MRIs of the calcaneus at the level of sustentaculum tali of unremarkably reported patients were selected for the development of this mnemonic. T1- and T2-MRIs of an additional set of patients with hindfoot pathologies were selected to demonstrate how this mnemonic is adapted to identify specific pathologies. Results: Upon viewing the calcaneus with the adjacent anatomical structures on coronal T1-MRIs, the overall appearance resembles a ''Hen in the Nest with Four Eggs.'' The calcaneus represents the body of the hen, while the sustentaculum tali forms the head and neck. The posterior tibial tendon represents the crest of the hen, and the flexor digitorum longus and flexor hallucis longus tendons represent its beak and wattle, respectively. The peroneus brevis and peroneus longus tendons represent the tail, and the long plantar ligament represents the flexed legs of Haleem's hen. The plantar aponeurosis represents the hen's nest. Whereas the abductor hallucis, flexor digitorum brevis, abductor digiti minimi and quadratus plantae muscles are the four eggs. Pes planus, flexor digitorum brevis hemangioma, Baxter's neuropathy associated with chronic denervation abductor digiti minimi atrophy and peroneal tendonitis are some of the hindfoot pathologies that can be identified utilizing the mnemonic. Conclusion: The mnemonic, 'Haleem's Hen in the Nest with Four Eggs,' serves as a simplified phrase for orthopedic surgeons, radiologists and other physicians to easily recall the anatomy of the hindfoot when viewing it at the level of the sustentaculum tali on coronal T1-MRIs. In addition, this mnemonic could be particularly useful when utilized in medical education curriculum for residents, fellows, and medical students. Further research is required to validate this mnemonic as an educational tool in medical training and detail additional hindfoot pathologies that can be identified with it.
Proximal Flexor Hallucis Longus Transfer to Peroneus Brevis for Treatment of Peroneal Muscle Paralysis
Authors: Moses Alex M. , Mustafa Moawiah , Haupt Edward T. 
Published: November 2022

Category: Hindfoot; Ankle; Other Introduction/Purpose: Equinovarus foot deformities typically present with equinus contractures, hindfoot varus, dorsiflexion of the medial midfoot, and adduction deformities of the forefoot. Whether of neurologic or muscular origin, all forms result muscular imbalance. Flexor hallucis longus (FHL) transfer to peroneus brevis (PB) is indicated when both peroneal muscles are in unrepairable condition to restore active eversion. However, in cases of muscle paralysis where the PB is still in continuity, we recommend a novel technique where FHL is tenodesed proximal to the peroneal retinaculum within the leg to avoid the additional morbidity associated with more distal fixation or tenodesis. Methods: Surgical intervention first involved a posterolateral approach to the ankle and an Achilles tendon Z-lengthening to fix her equinus contracture. The ankle and subtalar joint capsules were contracted requiring release. Flexor digitorum longus (FDL) and FHL were tenotomized, which immediately corrected her claw toes. Since the tendon had already been released, we were able to deliver the FHL tendon into the posterolateral leg wound. The peroneal fascia and sheath were opened proximal to the superior peroneal retinaculum to prevent tendon subluxation. PB was identified by confirming that it produced foot eversion and by visualizing the peroneus longus (PL). The tension of PB was confirmed by observing that it did not cause tension at PL insertion on the plantar 1st ray. FHL was then transferred to the PB utilizing a Pulvertaft weave technique with the tendon appropriately tensioned in mid eversion in the middle of the Blix curve (Figure 1). Results: After FHL transfer, the patient was immediately allowed to weight bear as tolerated in a short leg cast. This was due to her deconditioned state to limit atrophy and the effects of prolonged recumbency in this medically fragile young woman. The patient ultimately was casted for 10 weeks total as she was unable to tolerate a CAM boot or other orthotic due to the weight and problems with the fit. At 4 months follow up, her foot is corrected and she is able to stand in a neutral, plantigrade position. Using a new AFO, she can walk without issue. Her foot remains well balanced and plantigrade. Conclusion: This simple FHL transfer technique decreases morbidity since the transfer occurs within the leg, proximal to the superficial peroneal retinaculum (SPR). The transfer pulls on the paralyzed, but intact PB instead of routing the FHL to the 5th metatarsal base or PB stump. This technique is only recommended if PB is intact but non-functional. It should be noted that adequate tensioning is essential for a successful transfer. Benefits of this procedure include no cluttering under the SPR and no risk of scarring that region which can lead to decreased tendon excursion.
Risk Factors for Amputation in Opioid-Related Compartment Syndrome
Authors: Mun Frederick , Gupta Arjun , Fleuriscar Jean , Mo Kevin C. , Greenberg Marc , Sotsky Rachel B. , Hughes Alice , Aiyer Amiethab A. 
Published: November 2022

Category: Trauma; Other Introduction/Purpose: Increase in opioid use has been associated with a higher incidence of compartment syndrome. To our knowledge, there is no long-term or large database study that analyzes this unique patient population. We sought to compare the clinical outcomes of opioid-related compartment syndrome (ORCS) and non-opioid related compartment syndrome (NORCS), and assess risk factors for amputation in ORCS. Methods: Data on 154 patients (132 NORCS and 22 ORCS patients) from January 1, 2016 to December 31, 2021 who presented with compartment syndrome was collected through a multicenter billing database. We analyzed demographic and clinical findings, including cause of compartment syndrome, time until initial evaluation, length of hospital stay, number of surgeries, rate of amputation, and peak creatinine kinase (CK) and lactate levels. Bivariate statistics were used to assess the data. Results: The most common cause of compartment syndrome was trauma (62%) in the lower leg (79%). Twenty-one ORCS patients (96%) had a delayed presentation after immobilization in dependent position for >=8 hours. ORCS patients had significantly higher mean peak CK and lactate levels (p<0.001), length of hospital stay (p<0.001), and number of operations (p=0.03) compared to NORCS. All parameters, except for mean peak CK and lactate, were significantly greater among ORCS patients with subsequent amputation, compared to ORCS patients without amputation. ORCS patients with amputation had a significantly greater mean peak CK and lactate levels compared to ORCS without amputation (p=0.04). Conclusion: ORCS patients with subsequent amputation are associated with a longer and more complicated clinical course compared to ORCS and NORCS patients. As opioid use continues to rise, physicians should be aware of the unique challenges associated with ORCS patients.