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Background And Purpose: To evaluate the reliability and accuracy of nonaneurysmal perimesencephalic subarachnoid hemorrhage (NAPSAH) on Noncontrast Head CT (NCCT) between numerous raters.

Materials And Methods: 45 NCCT of adult patients with SAH who also had a catheter angiography (CA) were independently evaluated by 48 diverse raters; 45 raters performed a second assessment one month later. For each case, raters were asked: 1) whether they judged the bleeding pattern to be perimesencephalic; 2) whether there was blood anterior to brainstem; 3) complete filling of the anterior interhemispheric fissure (AIF); 4) extension to the lateral part of the sylvian fissure (LSF); 5) frank intraventricular hemorrhage; 6) whether in the hypothetical presence of a negative CT angiogram they would still recommend CA.

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Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.

EBioMedicine

January 2024

Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France; Unité de Génétique Clinique, AP-HP, Hôpital Pitié-Salpêtrière, Paris, France. Electronic address:

Background: SCA27B caused by FGF14 intronic heterozygous GAA expansions with at least 250 repeats accounts for 10-60% of cases with unresolved cerebellar ataxia. We aimed to assess the size and frequency of FGF14 expanded alleles in individuals with cerebellar ataxia as compared with controls and to characterize genetic and clinical variability.

Methods: We sized this repeat in 1876 individuals from France sampled for research purposes in this cross-sectional study: 845 index cases with cerebellar ataxia and 324 affected relatives, 475 controls, as well as 119 cases with spastic paraplegia, and 113 with familial essential tremor.

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Article Synopsis
  • Geographic atrophy is a severe type of dry age-related macular degeneration that can cause significant vision loss, and this study evaluates the safety and effectiveness of avacincaptad pegol 2 mg in slowing its progression.
  • The GATHER2 trial was a comprehensive, double-masked, sham-controlled study conducted over 24 months, involving 448 participants aged 50 and older, divided into two groups receiving either the treatment or a sham injection.
  • Results showed a significant reduction in the growth of geographic atrophy lesions in patients receiving avacincaptad pegol compared to those who received the sham treatment over 12 months.
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Article Synopsis
  • - The study analyzes over 25,000 rare genetic variants in noncoding regions related to amyotrophic lateral sclerosis (ALS) using data from more than 6,000 ALS patients and over 70,000 controls.
  • - Researchers found that specific variants in the 3' untranslated region of the IL18RAP gene are more common in non-ALS individuals, significantly lowering their risk of developing ALS by five times.
  • - These IL18RAP variants enhance the survival of motor neurons by reducing neuroinflammation, highlighting the critical role of noncoding regions in genetic studies related to diseases like ALS.
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Purpose: For patients with resectable stage IIIA(N2) non-small-cell lung cancer, neoadjuvant chemotherapy with cisplatin and docetaxel followed by surgery resulted in a 1-year event-free survival (EFS) rate of 48% in the SAKK 16/00 trial and is an accepted standard of care. We investigated the additional benefit of perioperative treatment with durvalumab.

Methods: Neoadjuvant treatment consisted of three cycles of cisplatin 100 mg/m and docetaxel 85 mg/m once every 3 weeks followed by two doses of durvalumab 750 mg once every 2 weeks.

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