نتایج جستجو برای: creatine deficiency syndrome
تعداد نتایج: 748934 فیلتر نتایج به سال:
Creatine, a nutritional supplement marketed to increase strength and muscle mass, is the most profitable performance-enhancing agent used among athletes today, grossing more than $200 million in 1998. As its use increases, especially among highschool athletes, the concern about its safety mounts. Because creatine is a dietary supplement, it is not regulated by the Food and Drug Administration, ...
Polycystic ovary syndrome is a very common cause of female infertility. This study aims to assess the prevalence vitamin D deficiency and its association with clinical anthropometric characteristics Iraqi women without polycystic syndrome. Fifty eightwomen disease their matched control group were included. Their blood pressure was measured. Serum level 25 hydroxy <20 ng/mL graded as deficien...
Malignant syphilis is considered a rare disease, more commonly affecting individuals with poor immunity. We report case of acquired immune deficiency syndrome (AIDS) repeated crusted ulcerat...
KERATO-CONJUNCTIVITIS sicca is more often seen by and is of more interest to the ophthalmologist than the physician. It is little known and yet not uncommon. The usual syndrome is one affecting mainly middle-aged women and consisting of kerato-conjunctivitis sicca, rhinitis sicca, xerostoma, pharyngitis sicca, and parotid enlargement, and frequently including a chronic polyarthritis (Sjogren's ...
The cover image is based on the Original Article GATA2 deficiency syndrome: A decade of discovery by Claire Homan et al., https://doi.org/10.1002/humu.24271.
When assessing an acute coronary syndrome (ACS) by means of high serum levels of creatine kinase (CK) and its MB fraction (CK-MB), one must keep in mind that there are several other causes for an increase of these markers, such as myocarditis, pericarditis, heart failure, severe aortic stenosis, stroke, renal failure, malignant hyperthermia, Reye syndrome, polymyositis, and borreliosis (1). Als...
Caitlin Loomis, MD Shawn J. Bird, MD Joshua M. Levine, MD Hoffman syndrome is a rare constellation of features that occurs in severely hypothyroid adults. It is characterized by muscle hypertrophy, weakness, stiffness, and slowness of movement with or without muscle cramps.1 Elevation of creatine kinase is common, but does not correlate with disease severity.2 A 50-year-old man from Ghana prese...
BACKGROUND AND PURPOSE Sjögren-Larsson syndrome (SLS) is a neurocutaneous syndrome caused by a genetic enzyme deficiency in lipid metabolism. Our purpose was to characterize the nature of the cerebral involvement in SLS. METHODS MR imaging was performed in 18 patients (aged 5 months to 45 years) and repeated in 14. Single-voxel proton MR spectra were acquired from cerebral white matter and gr...
We report three boys with adrenal hypoplasia congenita (AHC) and additional findings that represent a new syndrome, IMAGe: Intrauterine growth retardation, Metaphyseal dysplasia, AHC, and Genital anomalies. Each presented shortly after birth with growth retardation and severe adrenal insufficiency. Each of the three patients had mild dysmorphic features, bilateral cryptorchidism, a small penis,...
Ketogenic diet (KD) was usually tried as a last resort in the treatment of intractable epilepsy after failure of many antiepileptics and even epilepsy surgery. Glucose transporter-1 deficiency and pyruvate dehydrogenase deficiency must be treated with KD as the first choice because of inborn errors of glucose metabolism. Infantile spasms, tuberous sclerosis complex, Rett syndrome, Doose syndrom...
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