American Journal of Medical Genetics Part A, EarlyView.ABSTRACT SETD2 has an essential role in epigenetic regulation. SETD2 pathogenic variants cause neurodevelopmental disorders (SETD2‐NDDs) that most commonly include various degrees of intellectual disability and behavioral disorders, macrocephaly, brain malformations, and generalized overgrowth.
Marie Lucain +11 more
wiley +1 more source
Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio +13 more
wiley +1 more source
The molecular pathology of thyroid neoplasms
Journal of Pathology of Nepal, 2014 The Bethesda system of reporting thyroid cytology is being currently adopted worldwide. Rapid advances have been made in the understanding of the genetics of thyroid cancers. Common genetic mutations include RAS, BRAF, p53, B Catenin, and PAX8/PPARγ, genes. BRAF mutations tumours are often aggressive. BRAF mutations commonly affect papillary carcinomas
openaire +4 more sources
Diffuse sclerosing variant of thyroid carcinoma presenting as Hashimoto thyroiditis: a case report [Difuzno sklerozirajući oblik papilarnog karcinoma štitnjače nalik Hashimoto tireoiditisu: prikaz slučaja] [PDF]
, 2012 The aim of report is to present a case of a rare diffuse sclerosing variant of a papillary thyroid carcinoma. A 15-year old girl referred for ultrasound examination because of painless thyroid swelling lasting 10 days before.
Banek, Tomislav +4 more
core
Cancer in Ancient Human Populations: Methods and Practice in Bioarchaeology and Paleopathology [PDF]
, 2020 Best Undergraduate Writing in Anthropology Award, 2019-2020Despite its prevalence in contemporary public health, research on the paleopathology of cancer is still extremely limited.
Gardner, Elijah
core
Is it Possible to Diagnose "Non-Invasive Follicular Thyroid Neoplasm with Papillary-Like Nuclear Features" Preoperatively? [PDF]
Indian J Surg Oncol, 2023 Tazeoglu D +5 more
europepmc +1 more source
Genomics Review of Selective RET Inhibitors Sensitivity in Thyroid Cancer Clinical Trials
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT RET gene is a driver of thyroid cancer (TC) tumorigenesis. The incidence of TC has increased worldwide in the last few decades, both in medullary and follicular‐derived subtypes. Several drugs, including multikinase and selective inhibitors, have been explored.
Sara Gil‐Bernabé +5 more
wiley +1 more source
Intratumoural metastasis of primary lung adenocarcinoma to non-invasive follicular thyroid neoplasm with papillary-like nuclear features. [PDF]
Pathologica, 2023 Yadav S, Ankathi SK, Patil A, Kaushal R.
europepmc +1 more source
Alzheimer's &Dementia, EarlyView.Abstract US clinical practice guidelines for the diagnostic evaluation of cognitive impairment due to Alzheimer's disease (AD) or AD and related dementias (ADRD) are decades old and aimed at specialists. This evidence‐based guideline was developed to empower all—including primary care—clinicians to implement a structured approach for evaluating a ...
Alireza Atri +10 more
wiley +1 more source
Tracheomalacia: A Rare Complication After Thyroi dectomy
Indian Journal of Anaesthesia, 2008 Tracheomalacia is weakness of tracheal wall caused by softening of supporting cartilage and hypotonia of myoelastic elements. In patients with huge thyroid, following thyroidectomy it is due to extrinsic compression by enlarged thyroid in which ...
Dushyant Tripathi, Indira Kumari
doaj