Results 31 to 40 of about 278,748 (316)

Cleidocranial dysplasia [PDF]

Sudanese Journal of Paediatrics, 2019
We present a 4-year-old girl with persistent anterior fontanelle and narrow sloping shoulders. The X-ray imaging revealed widely open anterior fontanelle, supernumerary teeth, and absence of clavicles. Therefore, the diagnosis was cleidocranial dysplasia, which is a rare autosomal dominant skeletal disease, caused by the mutation in the gene on 6p21 ...
Stepan, Kutilek, Roman, Machytka, Petr, Munzar   +2 more
openaire   +2 more sources

Neurologic phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental expression of SMARCAL1

, 2008
Schimke immuno-osseous dysplasia (OMIM 242900) is an uncommon autosomal-recessive multisystem disease caused by mutations in SMARCAL1 (swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1), a gene encoding a ...
Hirano, R., Fujita, Y., Kanemura, Y., Deguchi, K., Sloan, E.A., Clewing, J.M., Lou, S., Choi, K., Powell, R., Northrop, J., Elizondo, L.I., Inoue, K., SantaCruz, K., Boerkoel, C.F., Huang, C., Willaime-Morawek, S., van der Kooy, D., Marwedel, K.M., Okano, H., Armstrong, D.L., Lucke, T.   +20 more
core   +1 more source

Case of Monostotic Fibrous Dysplasia in the hand [PDF]

, 2002
A case of monostotic fibrous dysplasia in the proximal phalanx of an otherwise healthy, twenty-five year old is discussed. Fibrous dysplasia in the hand is rarely seen. Our patient presented with a swelling in his proximal phalanx.
Sciberras, Carmel, Zammit, Jason, Attard, Gerhardt   +2 more
core  

Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

Molecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley   +1 more source

Challenges in the implementation of a high-resolution anoscopy clinic for people with HIV in an oncologic center in Mexico City

AIDS Research and Therapy
Background Anal cancer incidence is increased in people with HIV (PWH), up to 60 times higher in men who have sex with men, and almost 15 times higher among women with HIV.
Patricia Volkow, Salim Barquet-Muñoz, Naomi Jay, Maria-José Mendoza, Paulina Moctezuma, Mariel Morales-Aguirre, Delia Pérez-Montiel, Víctor Larraga, Alexandra Martin-Onraet   +8 more
doaj   +1 more source

Craniometaphyseal and craniodiaphyseal dysplasia, head and neck manifestations and management [PDF]

, 1996
Craniometaphyseal and craniodiaphyseal dysplasia are rare genetic disorders of bone due to modelling errors of long bones and skull bones. These syndromes present with multiple ENT symptomatology from an early age.
Bailey, CM, Dillon, MJ, Richards, A, Brain, C   +3 more
core  

Circular RNA expression landscapes in myelodysplastic neoplasms: Associations with mutational signatures and disease progression

Molecular Oncology, EarlyView.
In this explorative study, the abundance of circular RNA molecules in bone marrow stem cells was found to be elevated in patients with high‐risk myelodysplastic neoplasms, and to be associated with an increased risk of progression to acute myeloid leukemia.
Eileen Wedge, Morten Tulstrup, Gabriele Todisco, Pedro Moura, Christophe Côme, Jakob Werner Hansen, Jakob Schmidt Jespersen, Balthasar Schlotmann, Maria Creignou, Mette Dahl, Claudia Schöllkopf, Klas Raaschou‐Jensen, Krister Wennerberg, Bo Porse, Joachim Weischenfeldt, Eva Hellström‐Lindberg, Lasse Sommer Kristensen, Kirsten Grønbæk   +17 more
wiley   +1 more source

A patient with colitis-associated cancer who developed clinically manifest Crohn’s disease only after surgery

Surgical Case Reports, 2020
Background Patients with prolonged inflammatory bowel disease have a greater risk of colorectal cancer, known as colitis-associated cancer. Here we describe an unusual case of colitis-associated cancer. Case presentation The subject is a 41-year-old male
Yoshio Shimizu, Hideya Takaku, Sugiru Paku, Kazuaki Azuma, Toshishige Suzuki, Hiroshi Kashimura, Haruo Ohtani, Nobuhiro Ohkochi   +7 more
doaj   +1 more source

Ectodermal dysplasias

Portuguese Journal of Dermatology and Venereology, 2022
Ectodermal dysplasias are a heterogeneous group of rare inherited disorders. Molecular findings and clarification of cell signaling processes and ectodermal-mesenchyme interaction enabled the development of a clinical-functional model, which in turn helps to explain clinical signs, with variability in severity, associated non-ectodermal abnormalities ...
João, AL, Antunes, D, Cordeiro, AI, Paiva Lopes, MJ   +3 more
openaire   +3 more sources

Elastic scattering spectroscopy accurately detects high grade dysplasia and cancer in Barrett's oesophagus [PDF]

, 2006
Background and aims: Endoscopic surveillance of Barrett’s oesophagus currently relies on multiple random biopsies. This approach is time consuming, has a poor diagnostic yield, and significant interobserver variability. Elastic scattering spectroscopy is
Lovat, L.B., Bigio, I., Johnson, K., Davies, S., Thorpe, S.M., Bown, S.G., Fitzgerald, R., Clark, B.R., Novelli, M.R., Mackenzie, G.D., Pickard, D., Fearn, T., Selvasekar, C., O’Donovan, M.   +13 more
core