The genetic landscape of Lynch syndrome in the Israeli population.

Deciphering the spectrum and founder disease-causing variants (DCVs) in specific populations can shape and facilitate the diagnostic process of Lynch Syndrome (LS). The aim of this report was to comprehensively update on the genetic landscape of LS in the ethnically diverse Israeli-Jewish population. The cohort included 1080 carriers from 588 families; some from underrepresented, understudied Israeli ethnic groups recruited from 8 genetic institutes and high-risk clinics throughout the country.

High frequency of MEFV disease-causing variants in children with very-early-onset inflammatory bowel disease.

Background: Biological similarities between inflammatory bowel disease (IBD) and familial Mediterranean fever (FMF) have been described in humans and animal models suggesting a possible common genetic basis. FMF is caused by variants in the MEFV gene which encodes pyrin, an immune regulator. This study aimed to investigate the carrier rate of disease-causing MEFV variants in children of different ethnicities diagnosed with very-early-onset IBD (VEO-IBD).

The Association between Preoperative Vitamin D Levels and Postoperative Complications in Patients Undergoing Colorectal Liver Metastasis Surgery.

(1) Background: Over the past several years, there has been a renewed interest with regard to the effect of pre-operative vitamin D levels on post-surgical outcomes. Pre-operative vitamin D deficiency has been associated with many negative post-operative outcomes. However, the role of vitamin D in postoperative outcomes in colorectal liver metastasis (CRLM) resection is relatively uninvestigated.

The Diagnostic Yield and Implications of Targeted Founder Pathogenic Variant Testing in an Israeli Cohort.

Founder pathogenic variants (PVs) are prevalent in Israel. This study investigated the current practice of offering cancer patients two-step genetic testing, starting with targeted testing for recurring founder PVs, followed, if negative, by next-generation sequencing. A total of 2128 subjects with cancer or a positive family history underwent oncogenetic testing with a panel of 51 recurring PVs at a tertiary medical center in March 2020-January 2023.

Testing the cognitive effects of tadalafil. Neuropsychological secondary outcomes from the PASTIS trial.

Unlabelled: Cerebral small vessel disease (SVD) is a major cause of cognitive impairment in older people. As secondary endpoints in a phase-2 randomised clinical trial, we tested the effects of single administration of a widely-used PDE5 inhibitor, tadalafil, on cognitive performance in older people with SVD. In a double-blinded, placebo-controlled, cross-over trial, participants received tadalafil (20 mg) and placebo on two visits ≥ 7 days apart (randomised to order of treatment).

Transglabellar resection of frontal sinus cholesterol granuloma extending cranially through cecum foramina: Technical note.

Background: Cholesterol granuloma (CG) commonly occurs in the petrous apex; their occurrence in the anterior cranial fossa CGs is rare. Subfrontal approaches are the conventional surgical approaches for the resection of midline lesions of the anterior cranial fossa and frontal sinuses. In this article, we describe a successful minimally invasive approach for resection of a small midline anterior cranial fossa CG.

[INHERITED COLORECTAL CANCER - UPDATED REVIEW].

Significant progress has been achieved in recent years in the field of cancer genomics. The advancement in genomic technologies, molecular pathology and genetic testing, led to the discovery of novel genetic-hereditary factors, associated with colorectal cancer (CRC). There are currently ~20 identified genes that are linked to a higher risk of developing CRC; some of these genes are also linked to polyposis.

Possible biallelic inheritance in TIE1 in a family with congenital lymphedema, intestinal lymphangiectasia and cutis aplasia.

A short report of two male siblings born with cutis aplasia, lymphedema and intestinal lymphangiectasia, one found to carry bi-allelic variants in the TIE1 gene known to be associated with congenital lymphedema.

causing vertebral osteomyelitis in an immunocompetent patient: a case report and literature review.

vertebral osteomyelitis causing deformity in immunocompetent patients is uncommon. We describe a previously healthy 68-year-old male who was referred after 2 years of lower thoracic back pain and gibbus. His inflammatory markers and HIV test were normal.

Dissection-related tandem occlusion may be different from atherothrombotic tandem occlusion.

Objectives: The optimal endovascular treatment for tandem occlusion in anterior circulation ischaemic stroke remains unknown. The aim of this study was to examine how the aetiology of carotid pathology, dissection versus atherothrombosis, affects clinical outcomes.

Materials And Methods: Data was obtained from prospectively collected registries from two stroke centres between April 2016 and December 2020.

Vascular Collagen Type-IV in Hypertension and Cerebral Small Vessel Disease.

Background: Cerebral small vessel disease (SVD) is common in older people and causes lacunar stroke and vascular cognitive impairment. Risk factors include old age, hypertension and variants in the genes encoding collagen alpha-1(IV) and alpha-2(IV), here termed collagen-IV, which are core components of the basement membrane. We tested the hypothesis that increased vascular collagen-IV associates with clinical hypertension and with SVD in older persons and with chronic hypertension in young and aged primates and genetically hypertensive rats.

The Effect of COVID-19 National Lockdown on the Time from Presentation to Surgery of Patients with Suspected Cauda Equina Syndrome: Two UK Tertiary Centers' Study.

Objective: To investigate if COVID-19 UK lockdown measures resulted in a delay in the presentation and treatment of patients with cauda equina syndrome (CES).

Methods: This is a multicenter retrospective study of patients with surgically treated CES across 3 time periods: April-May 2020 (first lockdown), August-September 2020 (no-lockdown group), and January-February 2021 (second lockdown). Data regarding duration of symptoms, time from referral to admission, time from admission to surgery, and postoperative outcomes were collected.

Presentation, Management, and Outcome of Primary Leiomyosarcoma of the Spine: A Systematic Review.

Objective: Primary spinal leiomyosarcoma (PSL) is extremely rare. A case is presented, followed by a systematic review establishing the consensus on presentation, diagnosis, management, and outcomes. Comparison is made with metastatic spinal leiomyosarcoma (MSL).

The PASTIS trial: Testing tadalafil for possible use in vascular cognitive impairment.

Introduction: There are few randomized clinical trials in vascular cognitive impairment (VCI). This trial tested the hypothesis that the PDE5 inhibitor tadalafil, a widely used vasodilator, increases cerebral blood flow (CBF) in older people with symptomatic small vessel disease, the main cause of VCI.

Methods: In a double-blind, placebo-controlled, cross-over trial, participants received tadalafil (20 mg) and placebo on two visits ≥7 days apart (randomized to order of treatment).

Test-retest reliability of arterial spin labelling for cerebral blood flow in older adults with small vessel disease.

Cerebral small vessel disease (SVD) is common in older people and is associated with lacunar stroke, white matter hyperintensities (WMH) and vascular cognitive impairment. Cerebral blood flow (CBF) is reduced in SVD, particularly within white matter.Here we quantified test-retest reliability in CBF measurements using pseudo-continuous arterial spin labelling (pCASL) in older adults with clinical and radiological evidence of SVD (N=54, mean (SD): 66.

Innate Immune Anti-Inflammatory Response in Human Spontaneous Intracerebral Hemorrhage.

Background And Purpose: Spontaneous intracerebral hemorrhage (sICH) is a common form of hemorrhagic stroke, with high mortality and morbidity. Pathophysiological mechanisms in sICH are poorly understood and treatments limited. Neuroinflammation driven by microglial-macrophage activation contributes to brain damage post-sICH.

Resolving solitary osteolytic lumbar tuberculosis in young adult.

Lumbar vertebral tuberculosis presenting with a focal solitary osteolytic lesion is rare in spinal tuberculosis (TB) and the English literature describing this entity is scant. The differential diagnosis includes primary and secondary malignancies. In this report, we describe a case of 35-year-old woman who presented with low back pain and was found to have a focal L4 vertebral lytic lesion on MRI and CT.

Freehand external ventricular drain insertion - is there a learning curve?

Background: Accuracy of freehand insertion of external ventricular drains (EVDs) is influenced by many factors including etiology and presence of midline shift. We sought to assess if junior neurosurgical trainees' performance in accurately inserting EVDs improves with experience, using a radiological grading system.

Methods: EVD insertion procedures from the first 3 years of training were identified from the operative logbooks of three trainees.

Paraganglioma of the cauda equina: a tertiary centre experience and scoping review of the current literature.

Cauda equina paragangliomas are rare benign extra-adrenal neuroendocrine tumours arising from the neural crest cells associated with autonomic ganglia. These tumours are often mistaken preoperatively for ependymomas or schwannomas. Patients present with axial or radicular pain with or without neurological deficits.

Malignant middle cerebral artery infarction following subacute subdural hematoma: A case report and literature review.

Background: Subacute subdural hematomas (ASDH) are only treated surgically when they cause mass effect significant enough to give symptoms. Rarely, sub-ASDH may cause enough pressure to result in a malignant middle cerebral artery (MCA) territory infarction. Decompressive craniectomy (DC) is the last resort to reduce intracranial pressure following malignant MCA infarction.

A novel founder MSH2 deletion in Ethiopian Jews is mainly associated with early-onset colorectal cancer.

Lynch syndrome is an inherited cancer predisposition syndrome caused by germline defects in any of the mismatch repair (MMR) genes. Diagnosis of carriers makes precision prevention, early detection, and tailored treatment possible. Herein we report a novel founder deletion of 18,758 bp, mediated by Alu repeats on both sides, detected in Ethiopian Jews.