Results 21 to 30 of about 464,487 (319)

Spinocerebellar Ataxia Type 2 Is Associated with the Extracellular Loss of Superoxide Dismutase but Not Catalase Activity

Frontiers in Neurology, 2017
BackgroundSpinocerebellar ataxia type 2 (SCA2) is an inherited and still incurable neurodegenerative disorder. Evidence suggests that pro-oxidant agents as well as factors involved in antioxidant cellular defenses are part of SCA2 physiopathology.AimTo ...
Dennis Almaguer-Gotay, Luis E. Almaguer-Mederos, Raul Aguilera-Rodríguez, Roberto Rodríguez-Labrada, Dany Cuello-Almarales, Annelié Estupiñán-Domínguez, Luis C. Velázquez-Pérez, Yanetza González-Zaldívar, Yaimé Vázquez-Mojena   +8 more
doaj   +1 more source

Population screening for hereditary and familial cancer syndromes in Valka district of Latvia [PDF]

, 2010
Background The growing possibilities of cancer prevention and treatment as well as the increasing knowledge about hereditary cancers require proper identification of the persons at risk.
Arnis Āboliņš, Miklaševičs Edvīns, Vanags Andrejs, Gardovskis Jānis, Uldis Teibe, Teibe Uldis, Borošenko Viktors, Teibe, Uldis, Andrejs Vanags, Borošenko, Viktors, Andris Gardovskis, Štrumfa Ilze, Viktors Borošenko, Trofimovičs, Genadijs, Trofimovičs Genadijs, Genadijs Trofimovičs, Jānis Gardovskis, Štrumfa, Ilze, Gardovskis Andris, Vanags, Andrejs, Āboliņš Arnis, Edvīns Miklaševičs, Ilze Štrumfa, Aboliņš, Arnis, Gardovskis, Janis, Miklaševičs, Edvins, Gardovskis, Andris   +26 more
core   +1 more source

A patient with recurrent fever – TRAPped for diagnosis!

Current Medical Issues, 2022
Hereditary recurrent fever syndromes are rarely diagnosed in India, and the age at diagnosis is usually childhood or early adulthood. We present an adult male patient with recurrent fever since childhood who presented to us at 59 years of age and was ...
Hari Kishan Boorugu, Rajendra Vara Prasad Irlapati, Pankaj Vinod Jariwala, Kartik Pandurang Jadhav   +3 more
doaj   +1 more source

Phenotypic Characterization of Idiopathic Epilepsy in Border Collies

Frontiers in Veterinary Science, 2022
The prevalence of idiopathic epilepsy (IE) within the Border Collie (BC) dog breed is high. The aim of this retrospective study was to describe the phenotype of BCs with IE and assess correlations between phenotypic variables and owner-provided quality ...
Koen M. Santifort, Elise Bertijn, Sofie F. M. Bhatti, Peter Leegwater, Andrea Fischer, Paul J. J. Mandigers, Paul J. J. Mandigers   +6 more
doaj   +1 more source

Contribution of different etiology factors in fading pregnancy occurrence

Acta Medica Leopoliensia, 2018
Aim. Evaluate the contribution of non-genetic and genetic factors to the occurrence of fading pregnancy at the terms of less / more than 12 weeks of gestation.  Material and Methods.
M. Lozynska, N. Prokopchuk, M. Mikula, Ja. Korinets, O. Oleksiuk   +4 more
doaj   +1 more source

Serum selenium level and cancer risk: a nested case-control study

Hereditary Cancer in Clinical Practice, 2019
Background Epidemiologic studies have demonstrated a relationship between selenium status and cancer risk among those with low selenium levels. It is of interest to prospectively evaluate the relationship between selenium and cancer among women who ...
Steven A. Narod, Tomasz Huzarski, Anna Jakubowska, Jacek Gronwald, Cezary Cybulski, Oleg Oszurek, Tadeusz Dębniak, Katarzyna Jaworska-Bieniek, Marcin Lener, Katarzyna Białkowska, Grzegorz Sukiennicki, Magdalena Muszyńska, Wojciech Marciniak, Ping Sun, Joanne Kotsopoulos, Jan Lubiński   +15 more
doaj   +1 more source

R116C mutation of cationic trypsinogen in a Turkish family with recurrent pancreatitis illustrates genetic microheterogeneity of hereditary pancreatitis [PDF]

, 2001
Hereditary pancreatitis is due to heterozygosity for gain-of-function mutations in the cationic trypsinogen gene which result in increased levels of active trypsin within pancreatic acinar cells and autodigestion of the pancreas.
Dertinger, S., Ruebsamen, H., Lohse, P., Beck, M., Tautermann, G., Drexel, H.   +5 more
core   +1 more source

Hereditary is Hereditary

, 2007
This paper has been withdrawn by the authors, due an error in Theorem 3.1 : the induced module is not in general a submodule.
Bendiffalah, Belkacem, Cibils, Claude
openaire   +2 more sources

Familial Amyloid Polyneuropathy Misdiagnosed as Systemic Sclerosis

European Journal of Case Reports in Internal Medicine, 2022
We present the case of a 53-year-old woman of Portuguese ancestry with a diagnosis of progressive systemic sclerosis (SSc), proposed for haematopoietic stem cell transplantation (HSCT).
Marcia Agostinho Pereira, Madalena Monjardino Lobão, Antonio Mesquita, Miguel Martins, Rita Ribeiro   +4 more
doaj   +1 more source

Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study [PDF]

, 2004
We performed a prospective genotype-phenotype study using molecular screening and clinical assessment to compare the severity of disease and the risk of sarcoma in 172 individuals (78 families) with hereditary multiple exostoses.
Monaco, AP, Porter, JR, Simpson, AHRW, Lonie, L, Porter, D E, Simpson, Hamish, Porter, DE, Porter, J R, Monaco, Anthony, Simpson, AH, Monaco, A P, Fraser, M, Dobson-Stone, C   +12 more
core   +1 more source