C1-2 Stenosis Caused by Posterior Osteophytes: An Unusual Cause of Cord Compression.

Cervical spinal stenosis most commonly occurs at the subaxial spine. C1-C2 stenosis is relatively unusual but can be present in certain congenital or syndromic conditions such as rheumatoid arthritis. In this manuscript, we highlight the case of a 42-year-old lady who presented with neck pain and signs of high cervical myelopathy.

Hypertension as predictive factor for bevacizumab-containing first-line therapy in metastatic breast and colorectal cancer in BRECOL (GEICAM/2011-04) study.

Background: Retrospective data suggest an association between bevacizumab efficacy and the incidence of arterial hypertension (AHT). Additionally, epigenetic mechanisms have been related to AHT.

Methods: This prospective observational study conducted by GEICAM Spanish Breast Cancer Research Group included metastatic breast (MBC) or colorectal (mCRC) cancer patients treated with bevacizumab-containing chemotherapy as first-line treatment.

Autologous Cranioplasty with Bone Flap Preserved in Conventional Freezers: An Adequate Option in Low Resource Settings.

Background: Autologous cranioplasty has been used for decades and is the gold standard treatment in patients who underwent decompressive craniectomy (DC). One of the most common methods to store the cranial bone flap is cryopreservation at very low temperatures (-70 to -80°). The only way to achieve these low temperatures is by using special freezers which are not always available in all medical facilities, especially in low-resource centers.

Robotic-assisted single-position lateral for multilevel circumferential lumbar interbody fusion: how I do it.

Background: Lateral lumbar interbody fusion supplemented with insertion of pedicle screws is a surgical procedure that has gained popularity in the last years, becoming an important tool in the armamentarium of spine surgeons. In recent years, there is a trend to complete both procedures in a single position, thus avoiding flipping the patient prone to insert the pedicle screws.

Methods: We describe a step-by-step workflow of the robotic-assisted technique for multilevel lateral lumbar interbody fusion supplemented with posterior instrumentation.

Replenishing Age-Related Decline of IRAK-M Expression in Retinal Pigment Epithelium Attenuates Outer Retinal Degeneration.

Unchecked, chronic inflammation is a constitutive component of age-related diseases, including age-related macular degeneration (AMD). Here we identified interleukin-1 receptor-associated kinase (IRAK)-M as a key immunoregulator in retinal pigment epithelium (RPE) that declines with age. Rare genetic variants of IRAK-M increased the likelihood of AMD.

Unexpected Findings in Hereditary Breast and Ovarian Cancer Syndrome: Low-Level Constitutional Mosaicism in .

Hereditary breast and ovarian cancer syndrome (HBOC) is a clinical entity characterized by an increased risk of developing breast and ovarian cancer. The genetic diagnosis is based on the identification of heterozygous germinal variants in HBOC susceptibility genes. However, it has recently been described that constitutional mosaic variants can contribute to the aetiology of HBOC.

Seizure-Induced Spinal Fractures: A Systematic Review.

Background: Patients with epilepsy have a higher risk of skeletal injuries, and some of these fractures occur in the spine during a seizure. Seizure-induced spinal fractures (SISF) are unusual injuries that typically occur in the thoracolumbar spine. Because these skeletal injuries are not well described in the literature, this article aims to analyze the characteristics of this uncommon clinical entity.

Hypertensive primary intraventricular hemorrhage: a systematic review.

Primary intraventricular hemorrhage (PIVH) is a special subtype of intraventricular hemorrhage (IVH) without a hemorrhagic parenchymal component. Different conditions may cause this uncommon hemorrhage including trauma, vascular anomalies, coagulation disorders, and others. Frequently, PIVH is associated with structural vascular anomalies such as aneurysms, arteriovenous malformations, and dural fistulas.

The Strength of the Medial Olivocochlear Reflex in Chinchillas Is Associated With Delayed Response Performance in a Visual Discrimination Task With Vocalizations as Distractors.

The ability to perceive the world is not merely a passive process but depends on sensorimotor loops and interactions that guide and actively bias our sensory systems. Understanding which and how cognitive processes participate in this active sensing is still an open question. In this context, the auditory system presents itself as an attractive model for this purpose as it features an efferent control network that projects from the cortex to subcortical nuclei and even to the sensory epithelium itself.

Upfront primary tumour resection and survival in synchronous metastatic colorectal cancer according to primary tumour location and RAS status: Pooled analysis of the Spanish Cooperative Group for the Treatment of Digestive Tumours (TTD).

Introduction: Retrospective studies and meta-analyses suggest that upfront primary tumour resection (UPTR) confers a survival benefit in patients with asymptomatic unresectable metastatic colorectal cancer (mCRC) undergoing chemotherapy, however a consensus of its role in routine clinical practice in the current era of targeted therapies is lacking. This retrospective study aimed to analyse the survival benefit of UPTR in terms of tumour location and mutational status, in patients with synchronous mCRC receiving chemotherapy and targeted therapy.

Patients And Methods: Survival was analysed in a pooled cohort of synchronous mCRC patients treated with a first-line anti-VEGF or anti-EGFR inhibitor in seven trials of the Spanish TTD group, according to UPTR, tumour-sidedness and mutational profiling.

Germline G212E Missense Variant: Combining Clinical, In Vitro and In Vivo Strategies to Unravel Disease Burden.

E-cadherin, encoded by , is an essential molecule for epithelial homeostasis, whose loss or aberrant expression results in disturbed cell-cell adhesion, increased cell invasion and metastasis. Carriers of germline mutations have a high risk of developing diffuse gastric cancer and lobular breast cancer, associated with the cancer syndrome Hereditary Diffuse Gastric Cancer (HDGC). The ubiquitous availability of cancer panels has led to the identification of an increasing amount of "incidental" genetic variants that pose a serious clinical challenge.

Development and Validation of an RP-HPLC-PDA Method for Determination of Paracetamol, Caffeine and Tramadol Hydrochloride in Pharmaceutical Formulations.

Paracetamol (acetaminophen) (PAR), caffeine (CAF) and tramadol hydrochloride (TRA) are important drugs widely used for many clinical purposes. Determination of their contents is of the paramount interest. In this respect, a quick, simple and sensitive isocratic RP-HPLC method with photodiode array detection was developed for the determination of paracetamol, caffeine and tramadol in pharmaceutical formulations.

Motor Neuron Disease in a Patient With Cervical Spondylotic Myelopathy: Too Much Bad Luck.

Cervical spondylotic myelopathy (CSM) and amyotrophic lateral sclerosis (ALS) share some clinical findings. Hence, motor neuron disease (MND) should be considered in the differential diagnosis of patients presenting with signs and symptoms of CSM. This unique case demonstrates the coexistence of both conditions in the same patient.

Prevalence of pathogenic germline variants in patients with metastatic renal cell carcinoma.

Purpose: Germline pathogenic variants are estimated to affect 3-5% of renal cell carcinoma (RCC) patients. However, higher mutational prevalence in non-clear cell RCC (non-ccRCC) and advanced disease has been suggested.

Methods: To clarify the prevalence of pathogenic germline variants in metastatic RCC, we sequenced 29 cancer susceptibility genes in 294 unselected metastatic RCC cases plus 21 patients with clinical hereditary features.

Bilateral Large Vessel Occlusion Causing Massive Ischemic Stroke in a COVID-19 Patient.

The case of a 70-year-old male presenting an ischemic stroke related to COVID-19 infection is described. He was initially admitted to the hospital with respiratory insufficiency syndrome secondary to pneumonia caused by SARS Co2. In the next days, he developed rapid neurological deterioration characterized by drowsiness which progressed to deep coma.

Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization.

Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a very rare hereditary disorder characterized by cutaneous leiomyomas (CLMs), uterine leiomyomas (ULMs), renal cysts (RCys) and renal cell cancers (RCCs). We aimed to describe the genetics, clinical features and potential genotype-phenotype associations in the largest cohort of fumarate hydratase enzyme mutation carriers known from Spain using a multicentre, retrospective study of individuals with a genetic or clinical diagnosis of HLRCC. We collected clinical information from medical records, analysed genetic variants and looked for genotype-phenotype associations.

Chondromas of the Lumbar Spine: A Systematic Review.

Study Design: Systematic review and illustrative case.

Objectives: Lumbar spinal chondromas (LSCs) are rare spine tumors. The characteristics of these intraspinal lesions are not well described in the literature.

New DPYD variants causing DPD deficiency in patients treated with fluoropyrimidine.

Purpose: Several clinical guidelines recommend genetic screening of DPYD, including coverage of the variants c.1905 + 1G>A(DPYD*2A), c.1679T>G(DPYD*13), c.

Sarcoidosis of the Skull: A Systematic Review.

Background: Lesions of the skull make up a small but important part of neurosurgical practice. Several systemic disorders may involve the cranial vault including neoplastic and non-neoplastic conditions. Sarcoidosis of the skull is a little-known cause of calvarial involvement that has been rarely reported in the literature.

Spontaneous Extrusion of Ventriculopleural Shunt Catheter Associated with Pleural Effusion.

Background: Ventriculopleural (VPL) shunts are used infrequently in management of hydrocephalus. The main complication associated with these shunts is pleural effusion.

Case Description: A 28-year-old man with a history of congenital hydrocephalus had a VPL shunt inserted.