Results 61 to 70 of about 10,255 (168)

Identification of a novel de novo GATA3 mutation in a patient with HDR syndrome

Journal of International Medical Research, 2015
We describe the case of a 21-year-old male with hypocalcaemia, hyperphosphataemia, recurrent limb twitch, deafness, proteinuria, increased serum creatinine and urea nitrogen levels, and shrinkage of both kidneys. Brain computed tomography showed intracranial calcifications.
Liu, Chen, Bing, Chen, Wuilin, Leng, Xiaotian, Lui, Qinan, Wu, Xinshou, Ouyang, Ziwen, Liang   +6 more
openaire   +2 more sources

Cytology‐First Diagnostic Workflow for Melanoma of Unknown Primary With Molecular Profiling

Cytopathology, EarlyView.
Cytology‑first diagnostic workflow for melanoma of unknown primary. Fine‑needle aspiration of an enlarged lymph node enables rapid cytologic evaluation and immunocytochemical confirmation of melanocytic lineage (SOX10). This early cytologic diagnosis facilitates timely surgical excision and comprehensive genomic profiling, supporting integrated ...
Hong Yu, Mokhtar Abdelhammed, Xu Cao, Nisha S. Ramani   +3 more
wiley   +1 more source

SYNDROME OF HYPOPARATHYROIDISM, DEAFNESS AND RENAL DISEASE (HDR) IN A 7 YEARS OLD BOY AT BAHAWALPUR

Pakistan Armed Forces Medical Journal, 2020
Syndrome of (hypoparathyroidism, deafness and renal disease) HDS is a rare autosomal dominant syndrome which is characterized by triad of hypoparathyroidism, sensorineural hearing loss and renal disease.
Sumera Akram, Muhammad Ahmed Khan
doaj   +6 more sources

Epigenetic control of cellular plasticity in breast cancer progression

The FEBS Journal, EarlyView.
Cancer cells undergo cell state transitions, termed plasticity, driving cancer progression and dictating therapeutic response. We define breast cancer plasticity into four interconnected processes: (1) breast cancer stem cell fates, (2) epithelial‐to‐mesenchymal transition, (3) maintenance of luminal identity, and (4) acquisition of therapeutic ...
Ellie J. Massey, Elizabeth Podleszanski, William J. Muller   +2 more
wiley   +1 more source

NFE2L2‐mutated urothelial carcinomas frequently show concomitant myxoid and squamous features and have high PD‐L1 expression

Histopathology, EarlyView.
Aims NFE2L2 encodes the transcription factor, NRF2, which is a regulator of cellular oxidative stress responses and metabolic homeostasis. NFE2L2 alterations are implicated in multiple cancers, with significant study in thoracic oncology, with an adverse prognosis, aggressive behaviour, metabolic reprogramming and diminished responses to chemotherapy ...
Dane Wuori, Alexander Guzzetta, Melissa Y. Tjota, Peng Wang, Tatjana Antic, Jung Woo Kwon   +5 more
wiley   +1 more source

Merkel cell carcinoma: an updated guide for pathologists

Histopathology, EarlyView.
Merkel cell carcinoma (MCC) is an aggressive cutaneous neuroendocrine carcinoma for which the differential diagnosis can include other small cell malignancies (especially metastatic small cell carcinoma) or cutaneous carcinoma. Morphologic and immunophenotypic aberrancies in MCC can increase diagnostic challenge.
Paul W. Harms
wiley   +1 more source

Cutaneous lymphomas – an update

Histopathology, EarlyView.
Primary cutaneous lymphomas and lymphoproliferative disorders are defined by integrated clinical, histopathological, immunophenotypic and genetic features as diagnostic criteria also in the 5th edition of the WHO classification of haematolymphoid tumors.
Werner Kempf, Christina Mitteldorf
wiley   +1 more source

The Role of Innate Lymphoid Cells in Autoimmune, Allergic and Infectious Diseases: A Systematic Review

Immunology, EarlyView.
This systematic review establishes disease‐specific dysregulations of human innate lymphoid cells (ILCs), demonstrating that an ILC1/ILC3 imbalance compromises mucosal barriers in inflammatory bowel disease, while activated ILC2s drive allergic airway inflammation.
Luan F. Lückmann, Henrique R. Dal‐Pizzol, Louise M. Lückmann, Davi E. Salini, Bruna C. Hasckel, Mikaeli Minati, Bruno Kluwe‐Schiavon, Tatiana Barichello   +7 more
wiley   +1 more source

Genetic Susceptibility to Periodontitis

Journal of Periodontal Research, EarlyView.
Aim: The aim of this narrative review was to identify genes carrying risk alleles associated with an increased risk of periodontitis and to place them in a biological context. Methods: The literature was reviewed based on predefined criteria. Results: The identified genes largely fall into functions linking immune response with tissue repair. The genes
Gesa M. Richter, Arne S. Schaefer
wiley   +1 more source

Microbial and host‐derived biomarkers for the diagnosis and management of peri‐implant diseases

Periodontology 2000, EarlyView.
Abstract Objectives To critically evaluate the current evidence on microbial and host‐derived biomarkers for the diagnosis and management of peri‐implant diseases, with emphasis on their biological relevance, potential clinical utility, and current translational limitations.
Su Sheng Quach, Ausra Ramanauskaite, Sašo Ivanovski, Pingping Han, Frank Schwarz, Emilio A. Cafferata   +5 more
wiley   +1 more source