نتایج جستجو برای: familial characteristics
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there are no adequate data that evaluate the safety and effectiveness of lowering triglyceride levels in infants. the authors report a neonate affected by familial hyperchylomicronemia, while being investigated for sepsis the serum sample obtained for blood counts was discovered to be lipaemic and the case was subsequently investigated for dyslipidemia. based on this very abnormal lipid profile...
Methods PFAPA patients were prospectively recruited. All patients had genetic testing to exclude mutations in the known fever genes (MVK, MEFV, TNFRSF1A, NLRP3, and ELA2). These PFAPA patients have been classified as sporadic or familial cases based on family history. Familial cases included those with a family member having PFAPA or a family member having a feature of PFAPA (recurrent fever, o...
This study aims to investigate the relationship among levels of parentification, depression and marital satisfaction married individuals; examine how individuals' personal-familial characteristics affect level parentification. 597 people (244 men, 353 women) filled in “Parentified Child Scale-Adult Version”, “Beck Depression Scale”, “Marital Satisfaction “Personal Information Form”. Parentifica...
Autosomal dominant familial Parkinson’s disease (PD) due to the ·-synuclein (G209A) mutation shares similar clinical characteristics with sporadic PD. Pathological studies however indicate more widespread neuronal degeneration in the familial form. We performed 123I-FP-CIT SPET (DaTSCAN) study in nine patients with familial PD carrying the ·-synuclein (G209A) mutation and fifteen matched patien...
BACKGROUND Prostate cancer is a common and often deadly cancer. Decades of study have yet to identify genes that explain much familial prostate cancer. Traditional linkage analysis of pedigrees has yielded results that are rarely validated. We hypothesize that there are rare segregating variants responsible for high-risk prostate cancer pedigrees, but recognize that within-pedigree heterogeneit...
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