Isolated Partial Absence of the Septum Pellucidum: A Case Report.

The septum pellucidum is an important thin, membranous structure in the brain that separates the anterior horns of the lateral ventricles, essential for maintaining brain anatomy and function. Here, we describe a case of a 38-year-old male with a 20-year history of seizures, occurring approximately three to four times annually and lasting 30 minutes to one hour per episode, who presented with a recent seizure three days prior. Magnetic resonance imaging (MRI) of the brain revealed an absence of the septum pellucidum in its posterior portion, mild prominence of both lateral ventricles, and an abnormal course of the crura of the fornix, leading to a diagnosis of partial absence of the septum pellucidum. This case underscores the importance of comprehensive neuroimaging in detecting structural brain anomalies, which is crucial for effective diagnosis, management, and improving patient outcomes, particularly in long-standing seizure disorders.

Vascular and Neurological Complications in Sphenoid Sinusitis.

Although the cavernous sinus and internal carotid artery are in close proximity to the sphenoid sinus, vascular complications in sphenoid sinusitis are rare due to the intervening mucosa and bone. Variations like dehiscence or aggressive infection can cause vascular complications, leading to cavernous sinus thrombosis, while perivascular inflammation of the internal carotid artery can result in stenosis or occlusion. Untreated or aggressive sphenoid sinusitis can cause neurological complications such as cerebral infarcts, meningitis, subdural empyema, cerebral abscess, and cranial nerve injuries. Magnetic resonance imaging (MRI) of the brain with angiography can depict these complications at an early stage. Additionally, mastoiditis can cause dural venous sinus thrombosis, which, if left untreated, can result in venous infarcts. We report a case of an 11-year-old male with sphenoid sinusitis who developed a left middle cerebral artery (MCA) territory infarct, cavernous sinus thrombophlebitis, subdural empyema, and meningitis. He also developed left transverse and sigmoid sinus thrombosis due to left mastoiditis.

Children and Adolescent Patients with Variants in the ATP1A3 -encoded Sodium-Potassium ATPase Alpha-3 Subunit Demonstrate an Impaired QT Response to Bradycardia and Predisposition to Sinus Node Dysfunction.

Background: Alternating hemiplegia of childhood (AHC) is a rare disorder with both neurologic and cardiac manifestations. The ATP1A3-D801N variant is associated with a pathologically short QT interval and risk of ventricular arrhythmia following bradycardia; however, the mechanism of this remains unknown. We investigated the relationship between heart rate (HR), QT, and QTc, hypothesizing that individuals with ATP1A3-D801N have abnormal, impaired shortening of QT and QTc at lower HR leading to arrhythmia predisposition. Methods: We performed a retrospective observational study of individuals who underwent clinical evaluation, Holter monitoring, and genetic testing for AHC at Duke University Hospitals. We also compiled a group of healthy individuals as a control cohort. A larger, worldwide cohort of individuals with ATP1A3 - related phenotypes was compiled to investigate sinus node dysfunction. Linear regression analysis was then performed. Results: The cohort consisted of 44 individuals with ATP1A3 -related phenotypes with 81 Holter recordings (52.27% female; mean age at first Holter 8.04 years, range 0.58 - 33 years), compared to 36 healthy individuals with 57 Holter recordings (52.78% female; mean age at first Holter 9.84 years, range 0.08 - 38 years). Individuals with ATP1A3-D801N had reduced prolongation of QT at lower HR, manifest as a significantly lower slope for HR vs QT compared to healthy (P<0.0001). This resulted in a significantly higher slope of the relationship for HR vs QTc compared to healthy (P<0.0001). Individuals with ATP1A3 - related phenotypes and baseline QTc <350 milliseconds (ms) had increased shortening of QT and QTc at lower HR compared to those with normal QTc (P=0.003; P=0.001). Among worldwide cases, 3 out of 131 individuals with ATP1A3 -related phenotypes required device implantation and/or had sinus pauses >4 seconds. Conclusions: Individuals with the ATP1A3-D801N variant exhibit paradoxical shortening of QT and QTc at lower HR, which contribute to an increased risk of arrhythmias during bradycardia. This is exacerbated by an underlying risk of sinus node dysfunction. Clinical Perspective: What is Known: Individuals with ATP1A3-D801N have a short baseline QTc.Two individuals with AHC experienced ventricular fibrillation following bradycardia. What the Study Adds: The QT and QTc shorten to a greater extent at lower heart rate in individuals with ATP1A3-D801N than in healthy individuals. Individuals with ATP1A3 -related phenotypes and QTc <350ms show greater impairment of QT and QTc dynamics than those with normal QTc. There is low prevalence of device implantation and significant sinus pauses in individuals with ATP1A3 -related phenotypes, with a relatively greater prevalence in those with ATP1A3-D801N.

The influence of temperature and genomic variation on intracranial EEG measures in people with epilepsy.

Heatwaves have serious impacts on human health and constitute a key health concern from anthropogenic climate change. People have different individual tolerance for heatwaves or unaccustomed temperatures. Those with epilepsy may be particularly affected by temperature as the electroclinical hallmarks of brain excitability in epilepsy (inter-ictal epileptiform discharges and seizures) are influenced by a range of physiological and non-physiological conditions. Heatwaves are becoming more common and may affect brain excitability. Leveraging spontaneous heatwaves during periods of intracranial EEG recording in participants with epilepsy in a non-air-conditioned telemetry unit at the National Hospital for Neurology and Neurosurgery in London from May to August 2015-22, we examined the impact of heatwaves on brain excitability. In London, a heatwave is defined as three or more consecutive days with daily maximum temperatures ≥28°C. For each participant, we counted inter-ictal epileptiform discharges using four 10-min segments within, and outside of, heatwaves during periods of intracranial EEG recording. Additionally, we counted all clinical and subclinical seizures within, and outside of, heatwaves. We searched for causal rare genetic variants and calculated the epilepsy PRS. Nine participants were included in the study (six men, three women), median age 30 years (range 24-39). During heatwaves, there was a significant increase in the number of inter-ictal epileptiform discharges in three participants. Five participants had more seizures during the heatwave period, and as a group, there were significantly more seizures during the heatwaves. Genetic data, available for eight participants, showed none had known rare, genetically-determined epilepsies, whilst all had high polygenic risk scores for epilepsy. For some people with epilepsy, and not just those with known, rare, temperature-sensitive epilepsies, there is an association between heatwaves and increased brain excitability. These preliminary data require further validation and exploration, as they raise concerns about the impact of heatwaves directly on brain health.

Application of the International Endometrial Tumor Analysis (IETA) in Ultrasound Evaluation of Abnormal Uterine Bleeding.

INTRODUCTION: Abnormal uterine bleeding (AUB) affects a significant proportion of women, particularly around the ages of menarche and menopause. While ultrasonography is a primary diagnostic tool for AUB, techniques like the International Endometrial Tumor Analysis (IETA) scoring system have enhanced diagnostic accuracy for endometrial abnormalities. IETA provides a standardized approach to evaluating endometrial features, which aids in distinguishing benign from malignant lesions. METHODS: This study applied the IETA scoring system to the ultrasound evaluation of 50 women presenting with AUB. The study assessed various endometrial characteristics, including thickness, echogenicity, midline appearance, junction regularity, and vascular patterns. Data were analyzed to correlate IETA scores with histopathological findings and to compare the ultrasound features of benign and malignant lesions. RESULTS: The study found that non-uniform endometrial characteristics and irregular midline appearances were more common in malignant lesions. Specifically, interrupted or irregular endometrial-myometrial junctions, absence of the bright edge, higher color scores, and complex vascular patterns were significantly associated with malignancy. Mean endometrial thickness was notably higher in malignant cases compared to benign ones, with a statistically significant difference. The most frequent IETA scores were 7, 12, and 13. CONCLUSION: Integrating the IETA scoring system into ultrasound evaluation enhances the detection of endometrial abnormalities, improving the differentiation between benign and malignant lesions. This approach provides a reliable framework for diagnosing and managing AUB, potentially reducing the need for invasive procedures and facilitating better clinical decision-making.

Telomeric repeats in the commercial SB-1 vaccine facilitate viral integration and contribute to vaccine efficacy.

Marek's disease virus (MDV) integrates its genome into the telomeres of host chromosomes and causes fatal lymphomas in chickens. This integration is facilitated by telomeric repeat sequences (TMRs) at the ends of the viral genome, and is crucial for MDV-induced lymphomagenesis. The SB-1 vaccine virus is commonly used in commercial bivalent vaccines against MDV and also contains TMRs at its ends. Here, we demonstrate that SB-1 efficiently integrates its genome into the chromosomes of latently infected T cells. Deletion of the TMRs from the SB-1 genome did not affect virus replication, but severely impaired virus integration and genome maintenance in latently infected T cells and in chickens. Strikingly, the reduced integration and maintenance of latent SB-1 significantly impaired vaccine protection. Taken together, our data revealed that the TMRs facilitate SB-1 integration and that integration and/or maintenance of the latent viral genome is critical for vaccine protection.

Reversal of Fatty Liver With Regression of Acute Necrotizing Pancreatitis: A Rare Case.

Acute pancreatitis is a severe inflammatory condition that can lead to systemic repercussions, one of which is the development of hepatic steatosis (fatty liver). The accumulation of fat in liver cells can complicate the course of pancreatitis, exacerbating inflammation and causing additional metabolic disturbances. The presence of fatty liver in the context of acute pancreatitis can thus worsen the overall clinical picture, making management more challenging and potentially leading to further complications. Here, we discuss a rare case of a 34-year-old female who demonstrated the reversal of fatty liver following the improvement of acute pancreatitis. This case highlights the dynamic relationship between acute pancreatitis and hepatic steatosis, illustrating that effective management of pancreatitis can lead to significant improvements in associated conditions such as fatty liver.

Rhombencephalosynapsis: A Rare Hindbrain Malformation.

Rhombencephalosynapsis (RES) is a rare condition found in the pediatric population. It occurs due to a fundamental failure of vermian differentiation caused by faulty gene expression in the earliest patterning areas of the brain between days 28 and 41 of gestation, resulting in a fused cerebellum. This report aims to discuss cases of this rare hindbrain malformation, identify its features on MRI, diagnose any associated anomalies, classify it based on severity, and study its syndromic associations. We report two rare cases of RES in patients presenting with complaints of ataxia, global motor developmental delay, hypotonia, and dysarthria, who underwent an MRI of the brain.

IgG4-Related Disease of Mastoid Presenting as Headache: A Case Report.

IgG4-related disease (IgG4-RD) is a complex multi-system inflammatory disorder that can affect various organs in the body. This condition is characterized by elevated levels of immunoglobulin G subclass 4 (IgG4) and the presence of specific histopathological features. While neurological involvement is not as common as in other organs, when it occurs, it can lead to hypertrophic pachymeningitis and hypophysitis. Here, we present a case of a 53-year-old male with right-sided hemicranial headache and diplopia. Computed tomography revealed a soft tissue density lesion in the middle ear cavity and mastoid antrum with the destruction of the mastoid septae. Magnetic resonance imaging revealed a lesion in the right middle ear cavity associated with pachymeningitis and right sigmoid and transverse sinus thrombosis. Tissue pathology revealed dense plasma cell-rich chronic inflammation with storiform fibrosis. Immunohistochemistry was positive for IgG4. Hence, a diagnosis of IgG4-related disease causing mastoiditis, pachymeningitis and cerebral venous thrombosis was made. The patient was successfully operated and treated with steroids. IgG4-RD remains a rare but serious condition. It is crucial to identify and treat this condition promptly as it can lead to permanent organ damage. When patients continue to experience middle ear symptoms after an infection has been treated and cancer has been ruled out, it is important to consider inflammatory conditions as a differential diagnosis.

Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease Complicated by Pachymeningitis: A Case Report.

Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a rare autoimmune disorder that primarily affects the central nervous system (CNS). We present a unique case of MOGAD complicated by pachymeningitis, which is characterized by inflammation of the dura mater. The clinical presentation included vertigo, nausea, and vomiting. A diagnostic workup confirmed MOGAD complicated by pachymeningitis. This case underscores the diverse clinical manifestations of MOGAD and highlights the challenges in diagnosis and management, particularly when complicated by rare manifestations like pachymeningitis.

Primary Ewing's Sarcoma of the Kidney Mimicking Renal Cell Carcinoma With Widespread Metastasis: A Case Report and a Brief Review of the Literature.

Ewing's sarcoma family of tumors (ESFTs) are a group of small round cell tumors with common morphological and genetic features, including Ewing's sarcoma of bone, primary extra-skeletal Ewing tumors, extraosseous Ewing sarcoma (EES), and Askin tumors. EES presenting as a primary renal mass is an exceedingly uncommon aggressive tumor with limited reported cases in the literature and often mimics other renal malignancies on imaging. We present a case of a 31-year-old man presenting with left flank pain and abdominal fullness of short duration. Radiological imaging studies showed a large heterogenous mass from the left kidney, confirmed to be Ewing's sarcoma on post-operative histopathological examination (HPE) and immunohistochemistry (IHC) studies. Subsequent follow-up showed extensive metastatic disease. EES of the kidney has a nonspecific presentation and imaging appearance necessitating a multi-disciplinary approach comprising radiological imaging with a high index of suspicion, HPE, IHC, and molecular analysis for the correct diagnosis.

Extraction of microcrystalline cellulose from Ficus benghalensis leaf and its characterization.

Microcrystalline cellulose (MCC) is a crucial component in various industries, including pharmaceuticals, culinary, and cosmetics. The growing demand for MCC has spurred research into extraction methods. This study focused on extracting MCC from Ficus benghalensis using acid hydrolysis to convert the alpha-cellulose content of its leaves into MCC. The solvent used in this process was recyclable for further use. The extracted MCC was characterized by its physicochemical properties, including density, yield percentage, and structural characteristics. The yield was approximately 39.68 %, and the density was low at 1.518 g/cm3, making it suitable for filler applications. Fourier transform spectroscopy and UV-visible analysis identified functional groups of cellulose. X-ray diffraction analysis revealed a crystallite size of 1.560 nm and a crystallinity index of 66.43 %, indicating suitability for related applications. ImageJ determined a mean particle size of 36.545 µm, while scanning electron microscopy showed distinct surface orientations. Atomic force microscopy revealed surface roughness, root mean square, ten-point average roughness, skewness, and kurtosis. Elemental analysis indicated high concentrations of carbon (20.1 %) and oxygen (34 %). Based on these physicochemical features, the extracted MCC could be a valuable source for applications such as filler in reinforcement technology and coating material in pharmaceutical products.

Characterization of Calotropis gigantiea plant leaves biomass-based bioplasticizers for biofilm applications.

The present surge in environmental consciousness has pushed for the use of biodegradable plasticizers, which are sustainable and abundant in plant resources. As a result of their biocompatibility and biodegradability, Calotropis gigantiea leaf plasticizers (CLP) serve as viable alternatives to chemical plasticizers. First time, the natural plasticizers from the Calotropis leaves were extracted for this study using a suitable chemical approach that was also environmentally friendly. The XRD results showed a reduced crystallinity index of 20.2 % and a crystalline size of 5.3 nm, respectively. TGA study revealed that the CLP has good thermal stability (244 °C). Through FT-IR study, the existence of organic compounds in CLP can be investigated by key functional groups such as alcohol, amine, amide, hydrocarbon, alkene, aromatic, etc. Further the presence of alcoholic, amino, and carboxyl constituents was confirmed by UV investigation. SEM, EDAX analysis, and AFM are used to examine the surface morphology of the isolated plasticizer. SEM pictures reveal rough surfaces on the CLP surface pores, which makes them suitable for plasticizing new bioplastics with improved mechanical properties. Poly (butylene adipate-co-terephthalate) (PBAT), a biodegradable polymer matrix, was used to investigate the plasticization impact after the macromolecules were characterised. The biofilm PBAT/CLP had a thickness of 0.8 mm. In addition, the reinforcement interface was examined using scanning electron microscopy. When CLP is loaded differently in PBAT, the tensile strength and young modulus change from 15.30 to 24.60 MPa and from 137 to 168 MPa, respectively. CLP-reinforced films demonstrated better surface compatibility and enhanced flexibility at a loading of 2 % when compared to pure PBAT films. Considering several documented characteristics, CLP may prove to be an excellent plasticizer for resolving environmental issues in the future.

MRI susceptibility artefacts caused by orthodontic wire.

OBJECTIVES: To evaluate magnetic susceptibility artefacts produced by orthodontic wires on MRI and the influence of wire properties and MRI image sequences on the magnitude of the artefact. METHODS: Arch form orthodontic wires [four stainless steels (SS), one cobalt chromium (CC) alloy, 13 titanium (Ti) alloys] were embedded in a polyester phantom, and scanned using a 1.5-T superconducting magnet scanner with an eight-channel phased-array coil. All wires were scanned with T1-weighted spin echo (SE) and gradient echo (GRE) sequences according to the American Society for Testing and Materials (ASTM) F2119-07 standard. The phantom also scanned other eight sequences. Artefacts were measured using the ASTM F2119-07 definition and OsiriX software. Artefact volume was analysed according to metal composition, wire length, number of wires, wire thickness, and imaging sequence as factors. RESULTS: With SE/GRE, black/white artefacts volumes from all SS wires were significantly larger than those produced by CC and Ti wires (P < .01). With the GRE, the black artefacts volume was the highest with the SS wires. With the SE, the black artefacts volume was small, whereas white artefacts were noticeable. The cranio-caudal extent of the artefacts was significantly longer with SS wires (P < .01). Although a direct relationship of wire length, number of wires, and wire thickness with artefact volume was noted, these factors did not influence artefact extension in the cranio-caudal direction. CONCLUSIONS: Ferromagnetic/paramagnetic orthodontic wires create artefacts due to local alteration of magnetic field homogeneity. The SS-type wires produced the largest artefacts followed by CC and Ti.

Left Hemifacial Spasms Due to Left Vertebrobasilar Dolichoectasia.

Hemifacial spasm (HFS) arises from involuntary, recurrent, irregular tonic-clonic-like contractions of the muscles innervated by the facial nerve. Typically, compression of the facial nerve root exit on the same side is attributed to either a vascular loop or a mass located in the cerebellopontine (CP) angle. Dolichoectasia, alternatively termed dilated arteriopathy, is characterized by arterial dilatation, elongation, and tortuosity. Here, we present a case involving vertebrobasilar dolichoectasia (VBD) as the cause of HFS, alongside relevant imaging findings.

Proteus Syndrome: A Rare Congenital Disorder.

An uncommon congenital hamartomatous disorder called Proteus syndrome is characterized by multifocal tissue expansion originating from all three germinal layers. Diagnosis mainly relies on clinical and radiological criteria. Here, we present a case of a 13-year-old female child exhibiting bony, soft tissue, and vascular abnormalities, along with developmental delay. We conclude by highlighting the importance of imaging studies in conjunction with physical examination, which are characterized by general and specific criteria to diagnose this rare condition until a specific gene test becomes available.

Cholangiocarcinoma of the Common Bile Duct Presenting as Empyema of the Gallbladder: A Rare Case Report.

Cholangiocarcinoma of the common bile duct (CBD) presenting as empyema of the gallbladder is a rare entity that poses a risk of septicemia, septic shock, peritonitis, and abscess formation. This case report describes an elderly female presenting with pain in the right hypochondrium, a positive Murphy's sign, and a history of regurgitation and constipation. It highlights the value of imaging in the early diagnosis of this rare presentation of underlying malignancy. The most common cause of empyema of the gallbladder is acute cholecystitis, followed by gallbladder neck obstruction by a calculus. This report discusses the important role of imaging supported by clinical history, examination, laboratory tests, and histopathological findings to diagnose this rare presentation of empyema of the gallbladder as a complication of underlying cholangiocarcinoma. Additionally, it briefly discusses the change in the management line for cholangiocarcinoma patients with complications such as gallbladder perforation and septicemia. The study concludes that the possibility of underlying bile duct malignancy cannot be overlooked in patients with similar symptoms, particularly among the elderly.

A Rare Case of Emphysematous Pyelonephritis in a Non-diabetic Patient With Staghorn Calculus.

Emphysematous pyelonephritis (EPN) represents a severe and acute infection localized in the renal parenchyma and surrounding perirenal area, typically observed in individuals with predisposing factors such as urinary tract obstruction, diabetes mellitus, or compromised immune function. Here, we present a unique case involving a 23-year-old female patient presenting to the emergency department with complaints of discomfort localized to the right side of her abdomen. Despite the absence of diabetes mellitus, the patient was diagnosed with EPN based on clinical presentation and imaging findings. Prompt and effective management was initiated under the care of the urology department, highlighting the importance of early recognition and intervention in mitigating the potential complications associated with this severe infectious process.