bluuebunny/crossref_metadata_2025_split huggingface dataset:
Imaging findings, clinical and pathological characters of 28 patients with Xp11.2/TFE3 translocation renal cell carcinoma
Authors: Dong Haiping , Ni Yang , Liu Zhiling , Wang Zhou , Hu Bo , Xu Hongzhi , Cai Shifeng 
Published: October 2024

ABSTRACT

Purpose:
To analyze the imaging characteristics of Xp11.2/TFE3 translocation renal cell carcinoma and explore the relationship between the pathological features and imaging findings.

Materials and Methods:
Imaging, pathological, and clinical data of 28 patients with Xp11.2 RCC were studied from August 2013 to November 2019. The imaging characteristics and morbidity of different group were also explored meanwhile.

Results:
Patients ranged from 3 to 83 years old and the median age was 47 years. Bilateral renal tumors were detected in 1 patient and unilateral in the rest 27 patients. Out of 29 tumors, 13 were in the left kidneys and 16 in the right. Tumor size ranged from 2.2 cm × 2.5 cm to 20.0 cm × 9.7 cm. Tumors were cystic component/necrosis (29/29,100%), renal capsule breakage (16/29, 55%), capsule (18/29, 62%), calcification (15/29, 52%), fat (4/29, 14%), and metastasis (10/29, 34%). Tumors showed moderate enhancement during renal corticomedullary phase and delayed enhancement during nephrographic and excretory phase. The solid parts showed hypointense on T2WI. The imaging characteristics did not have significant correlation with the age, the incidence of adolescent and children group was higher than adult group.

Conclusion:
Xp11.2 RCC is a well-defined mass with cystic component, the solid part of tumor showed hypointense on T2WI. Xp11.2 RCC showed moderate enhancement during the renal corticomedullary phase and delayed enhancement during the nephrographic phase and excretory phase. Xp11.2 RCC has a higher incidence in children.
Endoscope-Assisted Revision Surgery after Lumbar Fusion with Pedicle Screw Fixation: A Case Series and Literature Review
Authors: Zhang Jia-xuan , Ke Zhen-yong , Zhong Dian , Liu Yang , Wang Li-yuan , Wang Yang 
Published: October 2024

Background:
Lumbar internal fixation and fusion can be subject to failure requiring revision surgery. Endoscopic revision surgery with minimal invasiveness may be a helpful therapeutic intervention in the management of certain fusion-related complications. According to the author’s knowledge, there are few references to this technique in English literature.

Objective:
This study aimed to investigate the efficacy of endoscope-assisted revision surgery in patients with recurrent radiculopathy after lumbar fusion surgery, discuss the necessity of revision surgery, and review the relevant literature.

Material and Methods:
We report a case series and review relevant literature. Information was gathered from the electronic medical record in our hospital. A total of 231 patients who underwent endoscopic spine procedures from January 2021 to October 2022 were reviewed. Three patients who underwent endoscopic decompressive procedures after lumbar fusion surgeries at a correspondence segment were identified, and the clinical courses and radiological findings of these patients were retrospectively reviewed.

Results:
The average interval from initial to revision surgery was 30.74 (range 10.50–48.00) months. The patients include one man and two women with an average age of 75.67 (range 68–81) years at the initial operation. Three patients developed symptoms of recurrent myelopathy after their initial surgery due to canal stenosis in the fusion segment and hyperostosis. All patients experienced symptom relief after revision surgery. At a mean follow-up time of 0.96 months, endoscopic decompression resulted in the average numerical rating scale (NRS) score for lower limb pain on the symptomatic side being reduced by 2.67. Patients rated their leg pain on average as 4.5 ± 0.5.

Conclusions:
Endoscope-assisted revision surgery after lumbar fusion with pedicle screw fixation is a promising therapeutic strategy in treating recurrent radiculopathy. Spinal stenosis and hyperostosis are two of the most significant reasons for revision surgery. Resection of intraspinal lesions and endoscopic foraminal decompression appear to have promising outcomes. Certain fusion-related complications may be effectively treated with endoscope-assisted revision surgery. Further research should be conducted to investigate the clinical efficacy of revision surgery.
MR Imaging in Covid-19–Associated Invasive Fungal Sinusitis
Authors: Pabbisetti Divya , Gudipati Anantaram , Kaul Subhash , Nalla Sahithi 
Published: October 2024

Background and Aim:
We witnessed a sharp peak in the incidence of invasive fungal sinusitis, particularly mucormycosis, in patients with history of coronavirus disease 2019 (COVID-19) infection in India. Rhino-orbito-cerebral mucormycosis (ROCM) is a fulminant rapidly progressive disease. Early diagnosis significantly improves patient survival and outcomes. Hence, neuroimaging plays a very important role. We studied the magnetic resonance (MR) imaging manifestations of invasive fungal sinusitis and established an imaging protocol, which helps in early diagnosis of the disease per se as well as its complications. We evaluated the differences between COVID-19–associated and non-COVID-19–associated ROCM.

Materials and Methods:
We retrospectively analyzed the MR imaging manifestations of 91 histopathologically proven cases of post-COVID-19–invasive fungal sinusitis.

Results:
We observed stage I disease limited to sinuses in 25.2%, stage II disease with intraorbital spread in 23%, and stage III disease with intracranial spread in 51.6% of our patients. Dural involvement was the commonest and earliest sign of stage III disease. Direct parenchymal invasion from the adjacent paranasal sinuses was the commonest pattern of cerebral involvement, involving basifrontal lobe (14.2%) followed by anteromedial temporal lobe (5.4%). We observed orbital and intracranial complications including subperiosteal orbital abscess (1%), cavernous sinus involvement (29.6%), angioinvasion (15.3%), perineural spread (9.8%), and osteomyelitis of skull base and craniofacial bones (45%). Contrary to non-COVID-19–associated ROCM, we did not observe any case with superior ophthalmic vein/dural venous sinus thrombosis or basilar artery angioinvasion in our study.

Conclusions:
In our study, stage III disease was most commonly due to direct parenchymal invasion into frontal and temporal lobes from the adjacent frontal and sphenoid sinuses, respectively. The commonest vascular complications in our study were cavernous sinus involvement followed by angioinvasion into the cavernous ICA leading to watershed infarcts.
Diagnostic Dilemma between Scrub Typhus Meningoencephalitis and Dengue Encephalopathy Resolved! – A Novel Prediction Score
Authors: Alam Areesha ,   Fellowship Pediatric Neurology, Agarwal Pranshi , Jain Amita , Kalyan Raj K , Kumar Rashmi 
Published: October 2024

Background:
Scrub typhus and dengue, common etiologies of acute encephalitis syndrome, present with similar clinico-laboratory profiles but differ in management protocol.

Objective:
We aimed to devise a score differentiating between scrub typhus meningoencephalitis (STM) and dengue encephalopathy (DE).

Methods:
A prospective cohort of 204 children, (aged 6 months to 14 years) presenting with acute encephalitis syndrome in a public teaching hospital in northern India was subjected to standardized workup including serum IgM against Orientia tsutsugamushi and Dengue virus. Clinico-laboratory features were compared between STM and DE using univariate and multivariate analysis. Area under the receiver operating characteristic (ROC) curve (AUROC) for the score derived from independent predictors and its sensitivity, specificity, predictive values was calculated at cutoffs.

Results:
STM and DE IgM ELISA were positive in 38 (18.6%) and 41 (20.1%) children, respectively. Longer duration of fever, prodromal stage, respiratory complaints and pneumonia were significantly frequent in STM; however, swelling, petechiae and myalgia were significantly prevalent in DE. STM had higher blood total leukocyte count (TLC), higher CSF protein and lower CSF sugar compared to DE. At admission, TLC >10,000/mm3, pneumonia, absence of myalgia and petechiae were independent predictors for differentiating STM from DE. AUROC of novel score (range: −5 to 5) was 0.879 (95% CI: 0.805–0.952). Score at cutoff ≥5 had 100% specificity and 100% PPV for differentiating STM from DE.

Conclusions:
Prediction score may benefit physicians to differentiate between these two infections and treat them accordingly.
Postural Orthostatic Tachycardia Syndrome (POTS) as a Cause of Dizziness – Expanding the Etiological Spectrum
Authors: Baskar Dipti , Mailankody Pooja , Sathyaprabha Talakad Narasappa , Mathuranath P S , Mahale Rohan R , Padmanabha Hansashree 
Published: October 2024

Background and Objectives:
Dizziness is a frequent complaint encountered in neurology clinics. Dizziness can be spontaneous or triggered, which includes orthostatic dizziness. Orthostatic dizziness can be acute (reflex/vasovagal syncope), chronic (orthostatic hypotension (OH), or postural orthostatic tachycardia syndrome (POTS). Since dizziness has numerous causes, these patients undergo extensive investigations before a diagnosis is made. Here, we describe five patients who presented with dizziness and were diagnosed to have POTS on evaluation.

Materials and Methods:
We conducted a retrospective study of patients who presented to the Department of Neurology from August 2020 to November 2021 with the complaint of dizziness and were diagnosed with POTS. The clinical history, neurological examination, treatment response, routine blood investigations, magnetic resonance imaging (MRI) brain, and autonomic function tests (AFTs) of the patients were reviewed from patients’ clinical records. Patients with dizziness and with diagnosis other than POTS were excluded from the study.

Results:
Among the five patients, males were predominant with a male to female ratio of 3:2. All the patients were in their early fourth decade with a mean age of 35.4 years. The presenting symptom was dizziness, and the key associated symptoms were anxiety and headache. Due to the orthostatic nature of symptoms and absence of orthostatic fall in blood pressure (BP), a detailed AFT was carried out, leading to the diagnosis of POTS. Patients were assessed at 3–6 months after treatment and there was a moderate response in one and no response in the remaining four patients.

Conclusion:
POTS should be considered a possible etiology when patients present with orthostatic dizziness in the absence of orthostatic fall in BP. Anxiety and headache may be associated with this type of dizziness.
Spectrum of Clinical Variability with SEPT9 Gene Mutation in Hereditary Neuralgic Amyotrophy: Understanding the Pathogenesis Using Molecular Dynamics Simulation Study
Authors: Bhatti Amit , Ravat Sangeeta , Desai Karan , Shekhar Bipin R , Menon Shyla R , Kumbhar Bajarang V , Kunwar Ambarish , Jain Neeraj , Das Dhanjit K 
Published: October 2024

Background:
Hereditary Neuralgic Amyotrophy (HNA) is an autosomal dominant disorder characterized by episodes of severe pain and amyotrophy affecting the brachial plexus as well as other sites. Mutations in the SEPTIN9 gene have been identified as genetic abnormality for HNA. Although the genetic mutations are known, their pathogenesis for the causation of this disorder is not exactly elucidated.

Objective:
In this study, we have investigated the phenotypic and genetic features in a large pedigree with HNA.

Methods:
We report the clinical spectrum and genetic analysis of a family with 9 affected members. Clinical heterogeneity has been reported in the individuals having mutations in SEPTIN9 gene. After taking informed consent, we have done genetic analysis of 6 affected and 4 unaffected members of the family to identify the molecular abnormalities of SEPTIN9 gene.

Results and Conclusions:
Genetic analysis has identified the presence of NM_001113491.2:p.Arg106Trp mutation in SEPTIN9 gene. The same mutation has been identified in 6 affected members of the family. Molecular simulation study has revealed that the mutation has significantly altered the conformation of septin-9 protein, thereby impairing the microtubule binding and bundling ability. Although the affected members shared a common recurrent mutation, they have a wide spectrum of clinical variability. This may be due to the variable penetrance of the mutation and different epigenetic influences in the family. This is the first genetically confirmed case series of HNA reported from India.
Restricted Cortical Activity Involving Parietal Lobe and Sublobar Region Leads to Generalized Spike-Wave Discharges of Juvenile Myoclonic Epilepsy: Evidence from an EEG Source Localization Study
Authors: Muthukrishnan Suriya Prakash , Anand Kuljeet Singh 
Published: October 2024

Background:
Previous studies have localized the origin of “generalized” spike-wave discharges of idiopathic generalized epilepsies to specific brain regions. Although there are studies in juvenile myoclonic epilepsy (JME) which have investigated the origin of spike-wave discharges, reports on the propagation of discharges are sparse.

Objective:
The current study investigated the propagation of spike-wave discharges in JME, which was investigated by statistically comparing the electroencephalography (EEG)-derived cortical source activity during (a) various phases of spike-wave discharge versus background (eyes closed) activity, and (b) various phases of the first spike wave versus the corresponding phase of subsequent spike waves.

Material and Methods:
Fourteen patients with JME who had generalized spike/polyspike and slow wave discharges in interictal EEG were included in the study. A total of 179 spike waves (first discernible spike wave – 55; subsequent spike waves – 124) were selected for source localization. Source analysis was carried out using exact low-resolution electromagnetic tomography (eLORETA). Statistical analyses to estimate the probability distribution of differences in cortical activity between (a) eight phases of epileptic discharge versus background (eyes closed) activity and (b) phases of the first spike wave versus the corresponding phases of subsequent spike waves were performed by paired t-tests and corrected for multiple testing using LORETA-KEY software.

Results:
Widespread activation of cortical voxels (more than 94%) was observed during all phases of epileptic discharge except the initial phase (pre-first spike) and terminal phase (post-peak of the subsequent wave). The parietal lobe, which was the most activated lobe during the pre-first spike, was found to be the least activated during the post-peak of first and subsequent waves. More than 93% of voxels in the sublobar region were consistently activated during all eight phases of discharge.

Conclusion:
The study findings suggest that the activity generated from the restricted brain network involving parietal lobe could be propagated through sublobar structures to cause widespread cortical activation during the subsequent phases of the spike-wave cycle.
Effects of Early and Late Cranioplasty on Neurocognitive Outcome and Cerebral Glucose Metabolism using PET Scan – A Comparative Study
Authors: Sharma Vivek , Rameshchandra Venkata Vemula , Prasad Bodapati Chandramouliswara , Dwivedi Rinu 
Published: October 2024

Background:
Brain protection and cosmetic aspects are the major indications of cranioplasty (CP) after decompressive craniectomy. CP can avoid the recurrence of brain damage, achieve the plastic effect, protect the patient from seizures, and relieve the syndrome of trephine.

Materials and Methods:
This was a prospective, observational study done over a period of 2 years from April 2017 to April 2019 in the Department of Neurosurgery at Sri Venkateswara Institute of Medical Sciences (SVIMS), Tirupati. Patients of age group 20–60 years who underwent CP after decompressive craniectomy for traumatic brain injury or cerebrovascular accidents with refractory intracranial hypertension were included. The study population was divided into two groups: early and late CP groups. Neurocognitive assessment was done 72 h before and 3 months after CP by mini-mental state examination (MMSE), Glasgow outcome score (GOS), and PGI battery of brain dysfunction (PGIBBD) scores. Cerebral glucose metabolism was assessed by 18F-FDG PET scan.

Results:
In both early and late CP groups, there was a highly significant difference between the mean pre- and postoperative values of MMSE, GOS, and PGIBBD, suggesting significant improvement in neurocognitive parameters of patients postoperatively. There was no significant difference between early and late CP groups for mean standard uptake values (SUVs) on PET scan for both affected (P-value- 0.40) and nonaffected (P-value- 0.30) sides.

Conclusion:
CP improves the cerebral metabolism and neurocognitive outcome, weather it is done early or late.
Prevalence and risk factors associated with metabolic dysfunction-associated steatohepatitis in patients with Helicobacter pylori infection: A population-based study
Authors: Abdel-Razeq Rashid , Bitar Lynn , Bitar Elio R , Onwuzo Chidera , Abu-Hammour Mohamad-Noor , Eren Barish , Mohamed Islam , Johnson Adejoke , Boustany Antoine , Onwuzo Somtochukwu , Asaad Imad 
Published: October 2024

BACKGROUND
Helicobacter pylori (H. pylori ) is associated with the development of gastrointestinal disorders ranging from gastritis to gastric cancer. The evidence of the association between metabolic dysfunction-associated steatohepatitis (MASH) and H. pylori infection in the literature is scarce. Therefore, we aim to evaluate the risk of developing MASH in patients who have had a diagnosis of H. pylori infection independently of any confounding variables.
AIM
To evaluate the risk of developing MASH in patients who have had a diagnosis of H. pylori infection.
METHODS
This study used a validated multicenter research database of over 360 hospitals across 26 healthcare systems across the United States from 1999 to 2022. Multivariate regression analysis assessed the risk of developing MASH, adjusting for confounders including H. pylori infection, obesity, type 2 diabetes, hypertension, dyslipidemia, and male gender. A two-sided P value < 0.05 was considered as statistically significant, and all statistical analyses were performed using R version 4.0.2 (R Foundation for Statistical Computing, Vienna, Austria, 2008).
RESULTS
A total of 79476132 individuals were screened in the database and 69232620 were selected in the final analysis after accounting for inclusion and exclusion criteria. Smokers (14.30%), patients with hyperlipidemia (70.35%), hypertension (73.86%), diabetes mellitus type 2 (56.46%), and obese patients (58.15%) were more common in patients with MASH compared to control. Using a multivariate regression analysis, the risk of MASH was increased in diabetics [odds ratio (OR): 3.55; 95%CI: 3.48-3.62], obese (OR: 5.93; 95%CI: 5.81-6.04), males (OR: 1.49; 95%CI: 1.46-1.52), individuals with hyperlipidemia (OR: 2.43; 95%CI: 2.38-2.49) and H. pylori infection (OR: 2.51; 95%CI: 2.31-2.73).
CONCLUSION
This is the largest population-based study in the United States illustrating an increased prevalence and odds of developing MASH in patients with H. pylori infection after adjusting for risk factors.
Platelet counts to spleen diameter ratio: A promising noninvasive tool for predicting esophageal varices in cirrhosis patients
Authors: Mossie Getnet Yigzaw , Nur Abdulsemed Mohammed , Ayalew Zekarias Seifu , Azibte Gebeyehu Tessema , Berhane Kaleb Assefa 
Published: October 2024

BACKGROUND
Liver cirrhosis is the end stage of progressive liver fibrosis as a consequence of chronic liver inflammation, wherein the standard hepatic architecture is replaced by regenerative hepatic nodules, which eventually lead to liver failure. Cirrhosis without any symptoms is referred to as compensated cirrhosis. Complications such as ascites, variceal bleeding, and hepatic encephalopathy indicate the onset of decompensated cirrhosis. Gastroesophageal varices are the hallmark of clinically significant portal hypertension.
AIM
To determine the accuracy of the platelet count-to-spleen diameter (PC/SD) ratio to evaluate esophageal varices (EV) in patients with cirrhosis.
METHODS
This retrospective observational study was conducted at Tikur Anbessa Specialized Hospital and Adera Medical Center from January 1, 2019, to December 30, 2023. Data were collected via chart review and direct patient interviews using structured questionnaires. The data were exported to the SPSS software version 26 for analysis and clearance. A receiver operating characteristic curve was plotted for splenic diameter, platelet count, and PC/SD ratio to obtain sensitivity, specificity, positive predictive value, negative predictive value, positive likelihood ratio, and negative likelihood ratio.
RESULTS
Of the 140 participants, 67% were men. Hepatitis B (38%) was the most common cause of cirrhosis, followed by cryptogenic cirrhosis (28%) and hepatitis C (16%). Approximately 83.6% of the participants had endoscopic evidence of EV, whereas 51.1% had gastric varices. Decompensated cirrhosis and PC were associated with the presence of EV with adjusted odds ratios of 12.63 (95%CI: 3.16-67.58, P = 0.001) and 0.14 (95%CI: 0.037-0.52, P = 0.004), respectively. A PC/SD ratio < 1119 had a sensitivity of 86.32% and specificity of 70% with area under the curve of 0.835 (95%CI: 0.736-0.934, P < 0.001).
CONCLUSION
A PC/SD ratio < 1119 predicts EV in patients with cirrhosis. It is a valuable, noninvasive tool for EV risk assessment in resource-limited settings.
Hepatitis B surface antigen-negative but hepatitis B envelope antigen-positive false occult hepatitis B virus infection: A case report
Authors: Yang Shu-Sheng , Fu Fei , Xuan Qian-Kun , Zhang Zhou-Xiang , Li Zhi-Jun , Li Guang-Bo , Yu Xiao-Yu 
Published: October 2024

BACKGROUND
Occult hepatitis B infection (OBI) is characterized by the detection of hepatitis B virus (HBV) DNA in serum (usually HBV DNA < 200 IU/mL) or the liver but negativity for hepatitis B surface antigen (HBsAg). The diagnosis of OBI relies on the sensitivity of assays used in the detection of HBV DNA and HBsAg. HBsAg assays with inadequate sensitivity or inability to detect HBV S variants may lead to misdiagnosis of OBI in people with overt HBV infection.
CASE SUMMARY
We report a HBsAg-negative but hepatitis B envelope antigen-positive patient who had a significant HBV DNA level. The patient was initially diagnosed as having OBI. However, sequence analysis revealed a unique insertion of amino acid residues at positions 120-124 in the S protein, which affects the formation of a disulfide bond that is associated with the formation of a loop. It is well known that there is an overlap between the S protein and Pol protein. We found that this new insertion site occurred in polymerase/reverse transcriptase domain, indicating that this insertion might be involved in HBV pathogenicity. The patient was finally diagnosed with a false OBI.
CONCLUSION
An insertion of amino acid residues at positions 120-124 of the S protein affects the formation of immunodominant epitopes and results in negative HBsAg levels.