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Comparison of Low-Dose Non-contrast CT in Detecting Anatomical and Surgically Important Variants of Paranasal Sinuses to Standard Dose Non-contrast CT: Experience from a Tertiary Care Hospital in Sub-Himalayan Region of Northern India
Computed tomography (CT) is the gold standard for diagnosing sinusitis and anatomical variations and a guide for paranasal sinus (PNS) surgeries....
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Genetic variants of interleukin 1B and 6 are associated with clinical outcome of surgically treated lumbar degenerative disc disease
BackgroundSuccessfully surgically treating degenerative disc diseases can be challenging to the spine surgeons, the long-term outcome relies on both...
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Prognostic implications of tumor histology and microenvironment in surgically resected intrahepatic cholangiocarcinoma: a single institutional experience
Intrahepatic cholangiocarcinoma (ICC) is a highly aggressive malignant neoplasm. Certain histologic features and the tumor microenvironment may...
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Anatomy of the pudendal nerve in clinically important areas: a pictorial essay and narrative review
PurposeThe pudendal nerve is an anatomical structure arising from the ventral branches of the spinal roots S2–S4. Its complex course may be affected...
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Prognostic factors for development of distant metastases in surgically treated high-grade salivary gland carcinomas: results of retrospective single center study with 213 patients
PurposeDistant metastases (DM) are the primary cause of treatment failure and death of patients with salivary gland carcinomas (SGC). The purpose of...
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Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants
Lynch syndrome (LS) and constitutional mismatch repair deficiency (CMMRD) are distinct cancer syndromes caused, respectively, by mono- and bi-allelic...
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Whole-exome sequencing reveals genetic variants that may play a role in neurocytomas
ObjectivesNeurocytomas (NCs) are rare intracranial tumors that can often be surgically resected. However, disease course is unpredictable in many...
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Novel PATL2 variants cause female infertility with oocyte maturation defect
PurposeOocyte maturation defect (OOMD) is a rare cause of in vitro fertilization failure characterized by the production of immature oocytes....
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Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects
Nebulin, a critical protein of the skeletal muscle thin filament, plays important roles in physiological processes such as regulating thin filament...
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Bardet–Biedl syndrome associated with novel compound heterozygous variants in BBS12 gene
BackgroundBardet–Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by 6 primary features of rod-cone dystrophy, central...
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Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert Consensus statement
Adult and paediatric patients with pathogenic variants in the gene encoding succinate dehydrogenase (SDH) subunit B ( SDHB ) often have locally...
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Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene
BackgroundCerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder caused by loss of function variants in the CYP27A1 ...
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Distinct mutational features across preinvasive and invasive subtypes identified through comprehensive profiling of surgically resected lung adenocarcinoma
Lung adenocarcinoma (LUAD) is a heterogeneous disease. Our study aimed to understand the unique molecular features of preinvasive to invasive LUAD...
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Collision of germline POLE and PMS2 variants in a young patient treated with immune checkpoint inhibitors
The onset of multiple and metachronous tumors in young patients induces to suspect the presence of genetic variants in genes associated with...
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Carney complex- why thorough medical history taking is so important - report of three cases and review of the literature
PurposeTo present a new case series and to review the literature on Carney complex (CNC) with an emphasis on highlighting key clinical features of...
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Impact of prior systemic therapy on lymphocytic infiltration in surgically resected breast cancer brain metastases
PurposeTumor-infiltrating lymphocytes (TILs) have been positively correlated with response to systemic therapy for triple-negative and...
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The inferior vena cava: anatomical variants and acquired pathologies
The inferior vena cava (IVC) is the largest vein in the body, draining blood from the abdomen, pelvis and lower extremities. This pictorial review...
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Which Aortic Valve Can Be Surgically Reconstructed?
Purpose of ReviewPreservation or repair of the aortic valve has evolved dynamically in the past 20 years. It leads to a high freedom from...
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A SICE (Società Italiana di Chirurgia Endoscopica e Nuove Tecnologie) observational prospective multicenter study on anatomical variants of the superior mesenteric artery: intraoperative analysis during laparoscopic right hemicolectomy—CoDIG 2 database (ColonDx Italian Group)
Colorectal cancer, the third most common cancer worldwide, affects 40–45% of patients on the right side. Surgery, especially minimally invasive...
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The prevalence of frontal cell variants according to the International Frontal Sinus Anatomy Classification and their associations with frontal sinusitis
BackgroundThe International Frontal Sinus Anatomy Classification (IFAC) is introduced to simplify the classification of different frontal cell...
