Investigating therapeutic nonsense suppression in a neurofibromatosis mouse model.

Neurofibromatosis type 1 (NF1) is a human genetic disorder caused by variants in the NF1 gene. Plexiform neurofibromas, one of many NF1 manifestations, are benign peripheral nerve sheath tumors occurring in up to 50% of NF1 patients. A substantial fraction of NF1 pathogenetic variants are nonsense mutations, which result in the synthesis of truncated non-functional NF1 protein (neurofibromin).

Revolutionizing Breast Cancer Detection With Artificial Intelligence (AI) in Radiology and Radiation Oncology: A Systematic Review.

The number one cause of cancer in women worldwide is breast cancer. Over the last three decades, the use of traditional screen-film mammography has increased, but in recent years, digital mammography and 3D tomosynthesis have become standard procedures for breast cancer screening. With the advancement of technology, the interpretation of images using automated algorithms has become a subject of interest.

The Management of a Urinary Bladder Leak in a Patient with Radiation Cystitis.

Urinary dysfunction following treatment for rectal adenocarcinoma is a common and complex complication. We present a case of a 69-year-old male who underwent laparoscopic-assisted left hemicolectomy and loop ileostomy after receiving chemotherapy and radiation therapy for rectal adenocarcinoma. Postoperatively, it was incidentally discovered the patient had urinary frequency and urgency.

Management of an undetectable Diverticular Bleed: A Case Report and Literature review.

Diverticular bleeding is the most common cause of lower gastrointestinal bleeding and accounts for 20.8%-41.6% of cases in the Western world.

Post-Radiotherapy Complications in Ewing Sarcoma: A Case Report and Literature Review.

Ewing's sarcoma (ES), the second most prevalent malignant osseous tumor in children and adolescents, primarily affects the extremities' long bones and pelvic region. Characterized by its aggressive growth, ES often presents with symptoms like swelling, pain, and neurological deficits, impacting various skeletal sites. ES involving the spine, particularly the sacral region, poses a significant challenge due to its rarity, aggressive nature, and limited sensitivity to treatments.

Gastric adenocarcinoma complicated by an intra-abdominal abscess: A case report.

Perforated gastric adenocarcinoma is a rare and challenging complication of gastric cancer, which can lead to intra-abdominal abscesses and other complications. Management of perforated gastric adenocarcinoma with an intra-abdominal abscess requires a multidisciplinary approach, including empiric antibiotic therapy and fluid resuscitation, partial gastrectomy with Roux-en-Y reconstruction, and image-guided drainage. This case report highlights the complex and challenging nature of managing perforated gastric adenocarcinoma with intra-abdominal abscesses.

Small Bowel Lymphoma Complicated With Ischemic Colitis: A Case Report.

Ischemic colitis is thought to be an injury to the colon as a result of reduced blood flow. Certain infectious diseases such as the Epstein-Barr virus can aid in the reduction of blood flow. The insult can range from inflammation and superficial injury to full-thickness necrosis.

Neuromyelitis Optica: A Case Report From a Radiological Perspective.

Neuromyelitis optica (NMO), also known as Devic's disease, is a chronic inflammatory disorder of the optic nerve and the spinal cord. Similar to multiple sclerosis, it has a relapsing and remitting characteristic. The disease is characterized by optic neuritis and longitudinal extensive inflammation of the spinal cord.

A Rare Case of Renal Cell Carcinoma With Inferior Vena Cava Invasion: A Life-Threatening Complication.

Renal cell carcinoma (RCC) arises from the renal tubular epithelial cells and comprises a group of heterogenous renal tumors. Renal tumors can metastasize to involve almost any body organ, the common sites being the lung, liver, bone, brain, adrenal gland, head, neck, and rarely, inferior vena cava (IVC), leading to lethal outcomes. We present a case of RCC with IVC invasion in a patient who presented with right-sided flank pain and gross hematuria.

A massive malignant pleural effusion due to lung adenocarcinoma in an adult male: a case report.

A significant right-sided pleural effusion was seen on chest radiography in a 53-year-old adult male who complained of bilateral chest pain, shortness of breath, and other additional symptoms. The bloody pleural effusion was removed with a chest tube, and cytopathology analysis showed moderate cellularity. After performing a high-resolution computed tomography, it was discovered that the affected lung had a significant pleural effusion on the right side as well as collapsed and consolidated lung parenchyma.

Removal of an atypical ovarian dermoid cyst: a case report.

Ovarian dermoid cysts, also known as mature teratomas, are benign embryonal tumors with a slow growth rate. They are the consequence of ectodermal components becoming trapped along with their closure sites and account for the most common germinative ovarian tumor in reproductive-aged women. These patients may have a reduced risk of morbidity if they receive an accurate diagnosis and extensive follow-up care.

Transradial access for cerebral angiography and neurointerventional procedures: A meta-analysis and systematic review.

Purpose: Transradial access (TRA) for diagnostic and interventional neurointerventional procedures has recently gained traction over transfemoral access (TFA) in the neurointerventional community. This meta-analysis aims to assess and summarize the utility of TRA in cerebral angiography and neurointerventional procedures.

Methods: A systematic literature review was performed utilizing Pubmed, Embase, and Scopus databases.

The Pathophysiology and Clinical Manifestations of Spinocerebellar Ataxia Type 6.

Spinocerebellar ataxias (SCA) constitute of a group of degenerative and progressive disorders that can be identified on a molecular and cellular basis. Along with histological changes, the clinical presentation of SCA differs between subtypes. In addition to basic cerebellar dysfunction symptoms, patients with SCA develop gait ataxia, dysphagia, dysarthria, oculomotor disturbances, pyramidal and extrapyramidal disease signs, rigidity, bradycardia, sensory deficits, and mild cognitive and executive function decline.

Comparison of Retinal Layer Thickness in Eyes with Resolved Diabetic Macular Edema Receiving Ranibizumab with Normal Eyes.

Purpose: To evaluate the thickness of individual retinal layers in eyes with resolved diabetic macular edema (DME) after treatment with ranibizumab (RBZ).

Methods: Spectral-domain optical coherence tomography (OCT) scans of 25 eyes (25 patients) with DME that had been treated with RBZ (and shown resolution of edema as evident by the absence of fluid in a high-resolution grid placed on the fovea) were acquired using Spectralis HRA + OCTTM. Thickness measurements of individual layers were calculated using papillomacular bundle (PMB), central subfield, and inner- and outer-ring Early Treatment Diabetic Retinopathy Study (ETDRS) grids.

Interferon-α-induced retinopathy in chronic hepatitis C treatment: summary, considerations, and recommendations.

Interferons are cytokines that regulate the host's response to viral infection, particularly in the setting of the immunologic response to the hepatitis C virus (HCV). While the virus has the ability to evade the host's innate and specific immunity, exogenous interferon-α with combined ribavirin, treatments have been found to achieve a significant sustained viral response in subgroups of patients with chronic HCV. One of the major side effects of interferon-α is an ocular retinopathy characterized by flame-shaped hemorrhages and cotton wool spots visualized on funduscopic examination.

Distinct cerebellar regions related to motor and cognitive performance in SCA6 patients.

Objective: To demonstrate a correlation between anatomic regional changes in Spinocerebellar Ataxia type 6 (SCA6) patients and measures of cognitive performance on neuropsychological tests.

Methods: Neurocognitive testing was conducted on 24 SCA6 and 28 control subjects. For each cognitive test, SCA6 patients were compared against the controls using Student's t-test.

Selective Patterns of Cognitive Impairment in Spinocerebellar Ataxia Type 6 and Idiopathic Late-Onset Cerebellar Ataxia.

Purpose: To determine cognitive impairment patterns in patients with spinocerebellar ataxia type 6 (SCA6) compared to patients with idiopathic late-onset cerebellar ataxia (ILOCA).

Methods: Neurocognitive testing was conducted on 21 SCA6, nine ILOCA, and 27 controls subjects. Intergroup differences were assessed using the Wilcoxon signed-ranked test or Student's t-test.

Effect of Vitreomacular Adhesion on Treatment Outcomes in the Ranibizumab for Edema of the Macula in Diabetes (READ-3) Study.

Purpose: To assess the role of vitreomacular adhesion (VMA) in visual and anatomic outcomes in patients with diabetic macular edema (DME).

Design: Retrospective cohort study.

Participants: Data from patients enrolled in the Ranibizumab for Edema of the Macula in Diabetes: Protocol 3 with High Dose (READ-3) study were analyzed.

Fixation Stability Measurement Using Two Types of Microperimetry Devices.

Purpose: We compared the fixation stability measurements obtained with two microperimeters, the Micro Perimeter 1 (MP-1) and the Spectral OCT/SLO (OCT/SLO), in subjects with and without maculopathies.

Methods: A total of 41 eyes with no known ocular diseases and 45 eyes with maculopathies were enrolled in the study. Both eyes of each participant had a 20-second fixation test using the MP-1 and OCT/SLO.

Retinal sensitivity is a valuable complementary measurement to visual acuity--a microperimetry study in patients with maculopathies.

Purpose: To evaluate changes in macular sensitivity, as measured with microperimetry, among patients with maculopathy and stable visual acuity (VA).

Methods: Macular sensitivity was assessed using the Spectral OCT/SLO™ microperimetry (OCT/SLO, Optos Plc., Dunfermline, UK) in 25 eyes (16 patients) with maculopathy and stable VA (<5 letters change in ETDRS score) at two consecutive clinic visits.

Comparison of time domain and spectral domain optical coherence tomography in measurement of macular thickness in macular edema secondary to diabetic retinopathy and retinal vein occlusion.

Purpose. To evaluate macular thickness, agreement, and intraclass repeatability in three optical coherence tomography (OCT) devices: the time domain (TD) Stratus OCT and two spectral domain (SD) OCTs, Spectralis and Cirrus SD-OCT, in eyes with macular edema secondary to diabetic retinopathy (DR) and retinal vein occlusion (VO). Methods.