bluuebunny/crossref_metadata_2025_split huggingface dataset:
Towards an Imaging-centric Definition of Non-paraneoplastic Autoimmune Retinopathy
Authors: Xu Lucy T. , Zheng Andrew , Shantha Jessica G. , Yeh Steven , Yan Jiong , Hubbard G. Baker , Patel Purnima S. , Waltuck Jonathan , O’Keefe Ghazala , Jain Nieraj 
Published: January 2024

Purpose:
We explored characteristic imaging features of npAIR to augment diagnostic criteria.

Methods:
This is a retrospective cohort study of patients with npAIR evaluated at the Emory Eye Center between 2013-2019. Multimodal fundus images were evaluated to characterize the evolution of the disease.

Results:
Twenty-one eyes of 12 patients were classified as having npAIR. Five (42%) patients were female, with median (range) age of 59 years (45-85 years). Median baseline visual acuity was 20/30 (20/20 - HM). Disease was asymmetric in 11 (92%) subjects. Common imaging findings included absence of bone spicules (86% of affected eyes), presence of attenuated vessels (86%) and speckled hypoautofluorescence in perimacular and perivenular regions. Three eyes were noted to present early with subtle splotchy FAF abnormality, ultimately developing characteristic speckled perimacular hypoautofluorescence. On OCT imaging, 18 (86%) eyes had loss of outer retinal bands with relative foveal sparing and a tapered transition zone.

Conclusion:
Many eyes with npAIR exhibit a subacute, asymmetric generalized photoreceptor degeneration featuring outer retinal atrophy with relative foveal sparing, retinal vascular attenuation, absence of bone spicules, and speckled hypoautofluorescence often in a perimacular and perivenular distribution. Our findings augment diagnostic criteria to improve specificity and accessibility of testing for npAIR.
Modulation of beta-hydroxybutyrate in traumatic brain injury
Authors: Arora Niraj , Shastri Dhaval Hitendrakumar , Patel Utsav Prakashbhai , Bhatia Kunal 
Published: January 2024

Purpose of review
Traumatic brain injury (TBI) is a significant public health concern with substantial morbidity and mortality rates in the United States. Current management strategies primarily focus on symptomatic approaches and prevention of secondary complications. However, recent research highlights the potential role of ketone bodies, particularly beta-hydroxybutyrate (BHB), in modulating cellular processes involved in TBI. This article reviews the metabolism of BHB, its effect in TBI, and its potential therapeutic impact in TBI.

Recent findings
BHB can be produced endogenously through fasting or administered exogenously through ketogenic diets, and oral or intravenous supplements. Studies suggest that BHB may offer several benefits in TBI, including reducing oxidative stress, inflammation, controlling excitotoxicity, promoting mitochondrial respiration, and supporting brain regeneration. Various strategies to modulate BHB levels are discussed, with exogenous ketone preparations emerging as a rapid and effective option.

Summary
BHB offers potential therapeutic advantages in the comprehensive approach to improve outcomes for TBI patients. However, careful consideration of safety and efficacy is essential when incorporating it into TBI treatment protocols. The timing, dosage, and long-term effects of ketone use in TBI patients require further investigation to fully understand its potential benefits and limitations.
Folliculin gene-negative Birt-Hogg-Dube syndrome: a case report
Authors: Dwikat Mohammad F. , Azar Jehad , Rabayah Rama , Salameh Ruba , Abdeljaleel Fatima , Almadhoun Waseem , Ayyad Alaa , Ibraik Farah , Safarini Omar 
Published: January 2024

Introduction and importance:
Birt-Hogg-Dube (BHD) is a rare genetic disorder that results from a mutation in the folliculin (FLCN) gene. Manifestations include pulmonary cysts, fibrofolliculomas, renal tumors, and pneumothoraces. Genetic testing can be used to confirm the diagnosis when suspected. BHD syndrome is diagnosed in patients with negative FLCN gene results using diagnostic criteria.

Case presentation:
A male in his 20s presented with recurrent pneumothoraces. A physical examination revealed bumps on his face and upper body. A chest computed tomography scan revealed cystic lesions. Blood tests, ESR, and CRP levels were unremarkable. Punch skin biopsy revealed fibrofolliculomas. Genetic testing for the FLCN mutation returned negative. His history, physical exam, imaging, and histopathology suggested BHD syndrome despite having a negative family history and genetic analysis. Eventually, the patient was diagnosed with FLCN gene-negative BHD syndrome.

Clinical discussion:
More than a hundred families have been identified to have BHD worldwide. There are a few cases in the literature describing patients phenotypically presenting with BHD despite having a negative genetic analysis. One study in Japan found 16 out of 157 individuals having a clinical presentation of BHD with no mutations. Also, decreased expression of the FLCN mRNA may lead to BHD.

Conclusion:
BHD syndrome can present with a negative FLCN gene mutation; however, patients must meet the known diagnostic criteria such as criteria made by Menko et al., Gupta et al., and Schmidt et al. in order to have a diagnosis of BHD syndrome. Also, a qualitative decrease of FLCN with the absence of mutations may also lead to BHD.
Factor Xa inhibitors versus warfarin in patients with non-valvular atrial fibrillation and diabetes mellitus: a systematic review and meta-analysis of randomized controlled trials
Authors: Zahoor Mohammad M. , Mazhar Saad , Azhar Aima , Mand Khan Fasih , Anees Usama , Vohra Rimsha R. , Ejaz Umer , Jawad Sayed 
Published: January 2024

Background:
Patients with non-valvular atrial fibrillation with diabetes face increased stroke and cardiovascular risks. This study compares factor Xa inhibitors and warfarin using data from randomized controlled trials (RCTs).

Methods:
MEDLINE, Embase, and Cochrane CENTRAL databases were searched for RCTs comparing the risk of efficacy and safety of any factor Xa inhibitors with dose-adjusted warfarin by diabetes status. Incidence of stroke/systemic embolism, major bleeding, intracranial hemorrhage, ischemic stroke, all-cause mortality, risk of hemorrhagic stroke, and myocardial infarction were among the outcomes of interest. A generic inverse-weighted random-effects model was used to calculate hazard ratios (HRs) with 95 percent confidence intervals (CIs).

Results:
After applying exclusion criteria, four RCTs containing 19 818 patients were included in the analysis. Compared with warfarin, meta-analysis showed statistically significant reduction in incidence of stroke/systemic embolism (HR 0.80 [95% CI 0.69–0.92]; P=0.002), intracranial hemorrhage (HR 0.49 [95% CI 0.37–0.65]; P<0.001), and risk of hemorrhagic stroke (HR 0.37 [95% CI 0.20–0.66]; P=0.001) in patients on factor Xa inhibitors. However, there was no discernible difference between two treatment arms in incidence of major bleeding (HR 0.93 [95% CI 0.84–1.04]; P=0.19), ischemic stroke (risk ratio (RR) 0.90 [95% CI 0.73–1.12; P=0.34), myocardial infarction (RR 0.88 [95% CI 0.67–1.15]; P=0.35), and all-cause mortality (RR 0.89 [95% CI 0.79–1.01]; P=0.06).

Conclusion:
Factor Xa inhibitors show a favorable balance between efficacy and safety compared with warfarin, which is consistent across a wide range of patients with atrial fibrillation known to be at high risk for both ischemic and bleeding events.
Small bowel obstruction due to a meat bolus bezoar: the second case report in literature
Authors: Albostani Ammar , Kfelati Fadi , Alsaadi Wafaa , Faraman Rufaida Ahmad , Farman Aasem 
Published: January 2024

Introduction:
Small bowel obstruction is a difficult emergency condition that may be caused due to many factors. However, bezoar-induced small bowel obstruction accounts for only 0.4–4.8% of all intestinal impaction patients. Bezoars are an entity of undigested materials classified into four types: phytobezoar, trichobezoar, pharmacobezoar, lactobezoar. Meat bolus bezoar is not named under any of these classifications.

Case presentation:
A 75-year-old man presented with abdominal distention, vomiting, and constipation. On radiological imaging, a mass in the terminal ileum was detected. After 2 days of ineffective conservative therapy, the authors decided to perform an open surgery. Enterotomy approach was chosen after failing to milk the object into the colons. The foreign body impacting the bowels was identified as a meat bolus bezoar. The patient improved after the surgery. The authors recorded no recurrence or complications with our patient after 18 months of follow-up.

Discussion:
Patients with small bowel obstruction usually present with acute abdominal pain and distension despite the blockage cause. Computed tomography is the most effective diagnostic tool in such cases. In bezoar-induced intestinal blockage, surgical management is mandatory if conservative therapy fails.

Conclusion:
It is important to consider bezoar-induced small bowel obstruction as a potential cause of impaction in cases of acute abdominal pain accompanied with risk factors of bezoar formation, despite the bezoar type.
Ulcerative colitis and pyoderma gangrenosum refractory to treatment successfully managed with pentoxifylline: a case report
Authors: Jiménez-Luévano Miguel A. , Jiménez-Partida Ana E. , Jiménez-Partida Miguel A. , Hernández-Flores Georgina , Cerda-Cruz César R. , Bravo-Cuellar Alejandro , Villaseñor-García María M. 
Published: January 2024

Introduction and importance:
Pyoderma gangrenosum is an unusual inflammatory pathology, with neutrophilic dermatosis, of unknown etiology. It is associated with diseases such as bowel disease. Generally, it is treated with anti-inflammatory drugs, corticosteroids, immunosuppressants, and antibodies against tumor necrosis factor, but relapse and adverse effects are persistent. Pentoxifylline is a drug with immunoregulatory and anti-inflammatory properties.

Case presentation:
A 47-year-old male with a diagnosis of ulcerative colitis initially managed favorably for 7 years with mesalazine. At 3 years of treatment, he presented a sudden ulcer that affected skin and subcutaneous tissue (13×10 cm) in the lower right limb. During the last 2 years, he was treated with mesalazine and infliximab with partial results and permanent relapses. Therefore, pentoxifylline was added to his treatment.

Clinical discussion:
The justification for the addition of pentoxifylline is mainly its action as an inhibitor of Nuclear Factor-kappa Beta (NF-κB) transcription, which stimulates the expression of proinflammatory interleukin genes such as IL-1, IL-6, IL- 8, and TNF-α and showing immunoregulatory and antioxidant activities.

Conclusion:
With pentoxifylline, this lesion healed at 6 weeks without relapses after 2 years.
Effect of calcitriol supplementation on infectious biomarkers in patients with positive systemic inflammatory response: A Randomized Controlled Trial
Authors: Sistanizad Mohammad , Salarian Sara , Kouchek Mehran , Shojaei Seyedpouzhia , Miri MirMohammad , Masbough Farnoosh 
Published: January 2024

Background:
Sepsis is one of the common causes of hospitalization of patients in intensive care units. A significant role for vitamin D in sepsis has been proposed, which is due to its active metabolite, calcitriol.

Aims:
Evaluate the effect of calcitriol supplementation on infectious biomarkers, including procalcitonin and presepsin.

Methods:
Patients with sepsis were divided into intervention and control group. Patients in the intervention group received intravenous calcitriol daily for 3 days. The serum levels of procalcitonin and presepsin were evaluated on days 0, 3, and 5 after administration.

Results:
Fifty-two SIRS-positive patients were evaluated. Baseline characteristics, changes in Sequential Organ Failure Assessment (SOFA) score and blood levels of vitamin D were not significantly different between the two groups. Procalcitonin levels on day 5 and the differences between day 5 and 0 were significantly lower in the intervention group (P = 0.02). Presepsin on the third and fifth days in the intervention group was reduced, but in the control group, there was an ascending trend. However, there was no significant difference between the two groups on days 3 and 5 (P = 0.17 and P = 0.06, respectively) or between days 3 as well as 5 and the baseline presepsin level (P = 0.93 and P = 0.92, respectively). The ICU length of stay and 28-day mortality did not differ significantly either between the two arms of the study.

Conclusions:
Finally, the results of this study showed that the administration of intravenous calcitriol could reduce the levels of procalcitonin but did not have a significant effect on presepsin.
Acetazolamide-responsive myotonia with a novel Ile239Thr mutation in SCN4A gene: a case report
Authors: Yadav Jashpal , Barnwal Ritesh , Kumar Mandal Sujit , Prajapati Bina 
Published: January 2024

Introduction and importance:
Sodium channel myotonia (SCM) belongs to the group of sodium channelopathies with mutations involving SCN4A gene. The main feature of sodium channel myotonia is pure myotonia without episodes of weakness or paralysis. One of the sodium channel myotonia has been classified as acetazolamide-responsive myotonia because of the effectiveness of acetazolamide as an antimyotonic drug.

Case presentation:
The child presented with generalized muscle hypertrophy and stiffness involving arms, thighs, calves, chest, and back muscles with unusually prominent trapezius muscle. The parents described the warm-up phenomenon as an improvement in stiffness as the day passes and with repetitive action. Percussion myotonia was illustrated in the thenar eminence and trapezius muscle. Characteristic ‘dive-bomber’ sound was present in electromyography, and whole-exome sequencing revealed a novel Ile239Thr mutation in the SCN4A gene. Acetazolamide was prescribed for the condition, and regular follow-up shows an excellent clinical response.

Clinical discussion:
This case presents a pure myotonic phenotype without episodes of weakness or paralysis. Generalized myotonia with muscle hypertrophy and demonstrating warm-up phenomenon resembles myotonia congenita (a chloride channelopathy). However, genetic analysis revealed a novel Ile239Thr mutation involving SCN4A gene indicating this case to be a sodium channelopathy.

Conclusion:
This case limelight sodium channel myotonia with a novel Ile239Thr mutation in SCN4A gene that phenotypically resembles myotonia congenita but genetically belongs to sodium channelopathy highlighting the poor correlation between genotypes and phenotypes in non-dystrophic myotonia. Acetazolamide can be a safe and cost-effective antimyotonic drug in sodium channel myotonia.
Changes in activities-specific balance confidence of active unilateral transtibial prosthesis users after provision of a self-aligning ankle foot
Authors: Davie-Smith Fiona , Powell Lynne , Porteous Nikki , Carse Bruce 
Published: January 2024

Background:
Self-aligning ankle feet have an increased range of motion and are marketed to improve compliance over uneven terrain and increase function and balance; however, much of the existing literature focuses on the biomechanical aspect of these prostheses as opposed to patient-reported measures.

Objective:
To compare activities-specific balance confidence (ABC), health-related quality of life (HR-QoL), perceived mobility, gait speed, and step length before and after provision of a self-aligning ankle foot in the active unilateral transtibial prosthesis user.

Study Design:
Retrospective analysis of prospectively collected data.

Methods:
Patient-reported and functional measures were captured for 85 users who were provided with a self-aligning ankle foot. Measures were recorded immediately before self-aligning ankle foot provision and again at 6 months afterward. The primary outcome was the ABC Score, along with the following secondary measures; HR-QoL using EQ-5D-5L Health Index Prosthetic Limb User Survey of Mobility and 10-meter timed walk test.

Results:
The median age of the cohort was 55.2 years old and 71% were males, with the majority having their transtibial amputation due to trauma. There was a statistically significant improvement in ABC from 76 to 86% (p < 0.001) with a medium effect size. There was no statistically significant improvement in HR-QoL (p = 0.051), Prosthetic Limb User Survey of Mobility (p = 0.043), time taken to walk 10 m (p = 0.15) and step length (p = 0.003).

Conclusions:
Self aligning ankle feet increased ABC and step length with no detrimental effect on HR-QoL, perceived mobility or walking speed in those with a unilateral trans-tibial amputation.
18F-FDG PET/CT Imaging of Isolated Myeloid Sarcoma in the Right Humerus
Authors: Xie Hangyu , Zhang Hanfei , Xiao Liu , Li Lin 
Published: January 2024

AbstractMyeloid sarcoma is a neoplastic mass formed by the infiltration of primitive or immature myeloid cells into organs and tissues outside the bone marrow. It may occur before, at the same time, or manifest as the recurrence of acute myeloid leukemia, myelodysplastic syndromes, and chronic myeloproliferative syndromes. It may involve any organ or tissue, including skin, soft tissue, lymph nodes, and gastrointestinal tract and bone. Isolated humerus involvement is extremely rare. Herein, we present the FDG PET/CT findings of a rare case of isolate myeloid sarcoma in the right humerus, which showed only increased bone density with moderate FDG uptake.
Intense FDG Uptake in Leiomyomatosis Peritonealis Disseminata With Fumarate Hydratase Deficiency
Authors: Wang Yang , Dong Aisheng , Cai Meiling 
Published: January 2024

Abstract
A 35-year-old woman with a history of laparoscopic myomectomy presented with repeated abdominal pain. Contrast-enhanced abdominal and pelvic CT showed multiple enhancing solid or mixed cystic and solid peritoneal masses, and an enhancing uterine mass. All these masses showed intense FDG uptake on FDG PET/CT. The intraperitoneal and uterine masses were surgically removed. The histological and immunohistochemical findings of the peritoneal lesions were consistent with leiomyomatosis peritonealis disseminata with fumarate hydratase deficiency, and the uterine mass was adenomyosis. This case indicates fumarate hydratase-deficient extrauterine leiomyoma can show intense FDG uptake mimicking malignancy.
The Great Imitator
Authors: Usmani Sharjeel , Al Riyami Khulood , Jain Anjali , Selvakumar Rajesh Joseph , Jayakrishan Vipin V. 
Published: January 2024

Abstract
Primary pulmonary paragangliomas are rare neuroendocrine tumors and are often discovered incidentally as nonfunctioning masses. We report a case of 58-year-old woman recently diagnosed with multifocal right breast cancer and suspicious right axillary lymph nodes. 18F-FDG PET/CT showed a well-defined marginated lesion in the lower lobe of the right lung with intense FDG uptake. Findings were suspicious for pulmonary metastases. CT-guided biopsy results were consistent with a paraganglioma. Paragangliomas can mimic metastases, especially if they are large or have a high degree of FDG uptake, and careful evaluation of imaging features and clinical findings can help differentiate these entities. Most of the time biopsy is necessary to confirm the diagnosis.
Multiple Lymphaticovenular Anastomoses for Chyluria in Klippel-Trenaunay Syndrome
Authors: Miyashita Kayo , Kadota Hideki , Hanada Masuo , Inatomi Yusuke , Oryoji Chikafumi , Morishita Aki , Yoshida Sei , Oda Yoshinao , Kinoshita Izumi 
Published: January 2024

Abstract
Klippel-Trenaunay syndrome (KTS) is characterized by port-wine stains, mixed vascular malformations, and soft tissue and bone hypertrophy. Klippel-Trenaunay syndrome is occasionally complicated by chyluria, for which there is no effective treatment currently. We report a case of KTS complicated by intractable chyluria and hematuria due to a lymphatic-ureteral fistula. The patient was successfully treated with multiple lymphaticovenular anastomoses (LVAs).
A 66-year-old woman with an enlarged left lower extremity since childhood was diagnosed with KTS. At 60 years of age, she developed chyluria (urine albumin, 2224 μg/mL) and hematuria. Lymphoscintigraphy showed a lymphatic-ureteral fistula near the ureterovesical junction. Conservative treatment was ineffective. She also developed left lower extremity lymphedema, which gradually worsened. Leg cellulitis and purulent pericarditis developed because of hypoalbuminemia (minimum serum albumin level, 1.3 g/dL).
We performed 14 LVAs in 2 surgeries to reduce lymphatic fluid flow through the lymphatic-ureteral fistula. The chyluria and hematuria resolved soon after the second operation, and the urine albumin level decreased (3 μg/mL). After 28 months, she had no chyluria or hematuria recurrence and her serum albumin level improved (3.9 g/dL). Multiple LVAs can definitively treat chyluria caused by a lymphatic-ureteral fistula in patients with KTS.
Subchondral Radial and Ulnar K-Wire Positioning With Cancellous Bone Graft Shortens Union Time in Scaphoid Waist Nonunion
Authors: Lee Seung Hoo , Shin Hyun Dae , Cha Soo Min , Kim Yun Ki 
Published: January 2024

Background
Bone grafting in patients with scaphoid waist nonunion can present several technical challenges. In this study, we aimed to present a modified surgical technique for scaphoid waist nonunion, which consisted of subchondral radial and ulnar K-wires positions with cancellous bone graft, and to compare the clinical outcome of this modified technique with the conventional method.

Methods
We retrospectively reviewed 72 patients with scaphoid waist nonunion who had been surgically treated between January 2011 and December 2020. Of these, 34 patients were treated with the modified method and 38 with the conventional method. Debridement of the nonunion site was performed using a curette, rongeur, and microburr. Two or 3 K-wires were inserted along the cancellous portion of the scaphoid in the conventional method. In the modified method, 2 K-wires were inserted along the ulnar and radial subchondral portion of the scaphoid to increase the space for bone grafting in the cancellous portion of the scaphoid. The autologous cancellous bone grafted in both the methods. Demographic, radiological, and clinical outcomes were reviewed and compared between the groups.

Results
There were no significant differences in demographics and characteristics of nonunion between the 2 groups of patients. The modified method group showed significantly shorter union time than the conventional method group (conventional group: 13.0 ± 1.3 weeks, modified group: 11.4 ± 1.1 weeks; P < 0.001). The bony union rate was 97.1% for the modified method and 89.5% for the conventional method. Satisfactory clinical outcomes (excellent and good Mayo wrist scores) were achieved in 27 cases (81.8%) using the modified method and 22 cases (64.7%) using the conventional method.

Conclusion
Subchondral radial and ulnar K-wire positioning with cancellous bone graft (modified method) can improve the union time with satisfactory clinical outcomes in the treatment of scaphoid waist nonunion.
Reconstruction With Flow-Through Chimeric Anterolateral Thigh Flap Combining Vascularized Fibular Bone Graft for Extensive Composite Tissue Defect of the Forearm
Authors: Hsieh Hua-Hsin , Shieh Shyh-Jou 
Published: January 2024

Abstract
The management of critical limb trauma is challenging because limb salvage is preferable to amputation. For upper limb reconstruction, the surgical restoration of functionality, and appearance, a multidisciplinary approach is needed. We report the case of an extensive composite tissue defect of the forearm caused by a machine-crushing injury that was repaired by a flow-through chimeric anterolateral thigh flap with a vascularized fibular graft. Reconstruction was performed as a single-stage procedure; no complications occurred, and both functional and aesthetic outcomes were satisfactory.