Results 101 to 110 of about 47,993 (230)

Analysis of short-term blood pressure variability in pheochromocytoma/paraganglioma patients [PDF]

, 2019
Data on short-term blood pressure variability (BPV), which is a well-established cardiovascular prognostic tool, in pheochromocytoma and paraganglioma (PPGL) patients is still lack and conflicting.
Bisogni, V., Bonvicini, M., Celi, M., Ciardi, A., Concistre, A., De Toma, G., Iannucci, G., Letizia, C., Mezzadri, M., Oliviero, G., Olmati, F., Petramala, L., Saracino, V., Tonnarini, G., Torre, G. L.   +14 more
core   +1 more source

Deep‐Intronic Variant in RUNX2 Causing Pseudo‐Exon Inclusion in a Family With Cleidocranial Dysplasia

Clinical Genetics, EarlyView.
A deep‐intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo‐exon inclusion into the mRNA. The pseudo‐exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.
Dorothea Stojanovic, Dorota Garczarczyk‐Asim, Julia Vodopiutz, Andreas R. Janecke   +3 more
wiley   +1 more source

Neurofibromin knockdown in glioma cell lines is associated with changes in cytokine and chemokine secretion in vitro. [PDF]

, 2018
The neurofibromin-1 tumor suppressor gene (NF1) is altered in approximately 20% of sporadic glioblastoma (GBM) cases. NF1 deficient GBM frequently shows a mesenchymal gene expression signature, suggesting a relationship between NF1 status and the tumor ...
Mukherjee, Joydeep, Pieper, Russell O, Wood, Matthew D   +2 more
core   +3 more sources

Validation of the German version of Infants and Toddlers Dermatology Quality of Life (InToDermQoL) Questionnaire

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary Background and Objectives Skin diseases can greatly impair quality of life (QoL) of pediatric patients and their families. The Infants and Toddlers Dermatology Quality of Life questionnaire (InToDermQoL) is the first skin‐generic instrument assessing QoL in children ≤ 4 years, as reported by their caregiver. This study aimed to psychometrically
Juliane Traxler, Neuza da Silva Burger, Matthias Augustin, Hagen Ott, Sanna Hoffmann, Regina Fölster‐Holst, Maria Baumeister, Petra Staubach, Rachel Sommer   +8 more
wiley   +1 more source

Clinical case of family neurofibromatosis type I

Лечащий Врач
Background. Neurofibromatosis is a group of orphan diseases with a wide spectrum of clinical presentation, which makes the disease difficult to diagnose. Pigmentation manifestations represent an early clinical sign in children with neurofibromatosis type
O. A. Inozemtsova, A. A. Antonova, T. G. Emelyanova, A. G. Kuznetsova, G. A. Yamanova, P. M. Abdurakhimova, D. R. Ilesheva   +6 more
doaj   +1 more source

Schwannoma of the tongue in a child [PDF]

, 2010
A schwannoma or neurilemmoma is a benign, slow growing, usually solitary and encapsulated tumour originating from Schwann cells of the nerve sheath.
Lukšić, Ivica, Manojlović, Spomenka, Müller, Danko, Trutin Ostović, Karmen, Virag, Mišo   +4 more
core   +1 more source

Neonates born at term with periventricular haemorrhagic infarction: Risk factors and clinical presentation

Developmental Medicine &Child Neurology, EarlyView.
This case series describes infants born near term with periventricular hemorrhagic infarction (PVHI), highlighting seizures as a common early symptom. Neonatal complications during delivery and pro‐thrombotic genetic mutations were slightly more common. MRI‐classified involvement was predominantly in the caudate vein territory.
Aleksandra Zaykova, Jeroen Dudink, Floris Groenendaal, Maarten H. Lequin, Manon J.N.L. Benders, Maria Luisa Tataranno, Elise Roze   +6 more
wiley   +1 more source

Mass in the back as manifestation of neurofibromatosis type 2

Journal of the Belgian Society of Radiology, 2010
Background: A 13-year-old boy was referred for MR imaging of the thoracolumbar spine to further differentiate a spindle shaped hyporeflective soft tissue mass in the back seen on ultrasonography (not shown) most characteristic for a lipoma.
A S Michel, L van den Hauwe, H Degryse
doaj   +1 more source

Survival impact of second primary cutaneous and non‐cutaneous melanoma in melanoma survivors

Journal of the European Academy of Dermatology and Venereology, EarlyView.
In this US population‐based cohort study, melanoma survivors diagnosed with regional/distant‐stage SPCM or SPNCM had worse survival compared to those with a single melanoma. Abstract Background Melanoma survivors have a high risk of developing second primary neoplasms, both cutaneous melanoma (SPCM) and non‐cutaneous melanoma (SPNCM), but little is ...
Jingjing Xie, Maija Kiuru, Brad H. Pollock, Theresa H. M. Keegan   +3 more
wiley   +1 more source

Ocular manifestations of Sturge–Weber syndrome: pathogenesis, diagnosis, and management [PDF]

, 2016
Sturge-Weber syndrome has been included in the group of phakomatoses that is characterized by hamartomas involving the brain, skin, and eyes. The characteristic facial port-wine stain, involving the first branch of the trigeminal nerve and the embryonic ...
Abdolrahimzadeh, Solmaz, BRUSCOLINI, ALICE, LA CAVA, Maurizio, LAMBIASE, ALESSANDRO, Mantelli, Flavio   +4 more
core   +1 more source