Results 31 to 40 of about 2,284 (209)

Chromosome 4q deletion syndrome: Narrowing the cardiovascular critical region to 4q32.2–q34.3 [PDF]

open access: yes, 2012
The 4q deletion syndrome is a rare chromosome deletion syndrome with a wide range of clinical phenotypes. There is limited clinical phenotype and molecular correlation for congenital heart defects (CHDs) reported so far for this region primarily because ...
Baldwin   +19 more
core   +1 more source

Hypertrophic pulmonary osteoarthropathy with primary lung cancer

open access: yesMajalah Kedokteran Andalas, 2017
Hipertrophic Pulmonary Osteoarthropathy (HPO) merupakan sindrom paraneoplastik yang disebabkan oleh kelainan pada paru-paru. Angka kejadian HPO sangat rendah yaitu kurang dari 1%, dimana penyebab yang tersering (90%) adalah karsinoma bronkogenik ...
Yulia Kurniawati, A.H.S. Kartamihardja
doaj   +1 more source

PB2553: GENOTYPIC CHARACTERIZATION OF RARE INHERITED ANAEMIAS USING NEXT GENERATION SEQUENCING METHODS

open access: yes, 2023
HemaSphere, Volume 7, Issue S3, August 2023.
Ganesh Kumar Viswanathan   +6 more
wiley   +1 more source

Case for diagnosis [PDF]

open access: yesAnais Brasileiros de Dermatologia, 2014
Pachydermodactyly is a rare and benign form of acquired digital fibromatosis characterized by the expansion of soft tissue around proximal phalanges and interphalangeal joints.
Camila Bueno Requena   +3 more
doaj   +1 more source

A Rare Cause of Refractory Anaemia hidden between Folds

open access: yes, 2023
British Journal of Haematology, Volume 202, Issue 4, Page 712-712, August 2023.
Syna Hamani   +3 more
wiley   +1 more source

Influence of Genetic Polymorphisms in Prostaglandin E2 Pathway (COX-2/HPGD/SLCO2A1/ABCC4) on the Risk for Colorectal Adenoma Development and Recurrence after Polypectomy [PDF]

open access: yes, 2016
OBJECTIVES: Deregulation of prostaglandin E2 (PGE2) levels reported in colorectal carcinogenesis contributes to key steps of cancer development. Our aim was to evaluate the influence of the genetic variability in COX-2/HPGD/SLCO2A1/ABCC4 PGE2 pathway ...
Brandão, C.   +8 more
core   +1 more source

Pachydermoperiostosis (Touraine-Solente-Gole Syndrome): A Case Report of Primary Hypertrophic Osteoarthropathy

open access: yesJournal of the Dow University of Health Sciences
Pachydermoperiostosis (PDP), or primary hypertrophic osteoarthropathy (PHO), also known as the Touraine–Solente–Gole syndrome, is an autosomal dominant genetic disorder that is rare and is identified by finger clubbing, skin thickening, and periosteal ...
Fatima Khurshid   +3 more
doaj   +9 more sources

Pachydermoperiostosis as a Rare Cause of Blepharoptosis

open access: yesTürk Oftalmoloji Dergisi, 2014
A 37-year-old male patient diagnosed with pachydermoperiostosis at another center came to our clinic to rectify his blepharoptosis. The physical examination of the patient revealed skeleton and skin symptoms typical for pachydermoperiostosis.
Özlem Yalçın Tök   +5 more
doaj   +1 more source

Thymic Carcinoma Associated with Cerebellar Degeneration [PDF]

open access: yes, 2017
We present the case of a 57-year-old man with ataxia and clinical and radiological features of cerebellar degeneration. A computed tomography showed a mediastinal mass. The patient was diagnosed of thymic carcinoma. paraneoplastic cerebellar degeneration
García Cuartero, Irene   +3 more
core   +2 more sources

Human tuberculosis - an ancient disease, as elucidated by ancient microbial biomolecules [PDF]

open access: yes, 2009
Tuberculosis is a major cause of death but infected people with effective immunity may remain healthy for years, suggesting long-term coexistence of host and pathogen.
Donoghue, HD
core   +1 more source

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