Results 181 to 190 of about 813,681 (302)

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

Severe periodontal condition as a result of diabetes mellitus type i: a case report

Diabetologia Croatica, 2002
The connection between diabetes mellitus and periodontitis has been well established. Diabetic condition may impair periodontal health in many ways, and corrupt the host response to opportunistic bacteria that cause periodontal disease. This article describes a case of a male patient (born 1963) with a long history of diabetes mellitus type I, severe ...
Plančak, Darije, Bošnjak, Andrija, Pavelić, Božidar   +2 more
openaire   +1 more source

Genotype–Phenotype Correlation in TTC7A‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff, Hans Christian Schmidt, Matthias Hans Belau, Johanna Hagens, Mario Lange, Daniel Tegtmeyer, Konrad Reinshagen, Frederike Leonie Harms, Christian Tomuschat   +8 more
wiley   +1 more source

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones, Julie Park, Silothabo Dliso, Daniel B. Hawcutt, Alena Shantsila, Gregory Y. H. Lip, Joanne Blair   +6 more
wiley   +1 more source

Visualizing Turner Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) continues to present a diagnostic challenge to healthcare professionals. The diagnostic challenges associated with TS result in delayed treatment and clinical care. Here we provide an update of the physical appearance of girls and women with TS by presenting clinical photographs and detailed clinical descriptions of 25 ...
Kirstine Stochholm, Astrid Bruun Rasmussen, Anne Skakkebæk   +2 more
wiley   +1 more source

Do Skin Prick Tests Predict Nasal Provocation Test Outcomes in Allergic Rhinitis Patients?

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background In diagnosing allergic rhinitis (AR), conventional skin prick tests (SPTs) often fail to reflect allergen‐induced nasal symptoms. Conversely, nasal provocation tests (NPTs) provide more definitive assessments but are less accessible.
Yunhyung Lee, Gyu Tae Kim, Seo Jun Kang, Marn Joon Park   +3 more
wiley   +1 more source

Synthesis of Sulochrin-125I and Its Binding Affinity as α-Glucosidase Inhibitor using Radioligand Binding Assay (RBA) Method

Atom Indonesia, 2014
Most of diabetics patients have type 2 diabetes mellitus or non insulin dependent diabetes mellitus. Treatment type 2 diabetes mellitus can be done by inhibiting α-glucosidase enzyme which converts carbohydrates into glucose.
W. Lestari, V.Y. Susilo, S. Setiyowati, Triningsih, A. Ariyanto, P. Widayati, L.B.S. Kardono, A. Yanuar3   +7 more
doaj  

Comparison of the effects of metformin, citral, Cymbopogon citratus extract and silver nanoparticles of Cymbopogon citratus extract on oxidative stress indices and Nrf2 levels in experimental type 2 diabetes in rats

Animal Models and Experimental Medicine, EarlyView.
The experimental type 2 diabetes model in rats induced by streptozotocin and nicotinamide showed that silver nanoparticles synthesized from lemongrass extract modulate blood glucose, water and food intake, and enhance antioxidant enzyme synthesis and weight gains.
Milad Faraji, Mohammad Foad Noorbakhsh, Nasrin Kazemipour, Saeed Nazifi, Hamid Reza Moradi, Nasrollah Ahmadi, Maryam Azadmanesh   +6 more
wiley   +1 more source

Neutrophil‐to‐lymphocyte and monocyte‐to‐lymphocyte ratios as inflammatory markers in the assessment of glycemic status in diabetic patients of Asir region

Animal Models and Experimental Medicine, EarlyView.
Neutrophil‐to‐lymphocyte ratio (NLR) and monocyte‐to‐lymphocyte ratio (MLR) were investigated as potential markers. A total of 3545 subjects were included in the analysis retrospectively. Adult men and women with impaired glucose metabolism were assessed. NLR and MLR may help assess inflammation in individuals with impaired glucose metabolism. Abstract
Ayed A. Dera, Abeer Abdullah Alghamdi, Mesfer Al‐Shahrani, Reem M. Al‐Gahtani, Bashayer Saad Alghamdi, Gaffar Sarwar Zaman, Mohammed Abdul Rasheed, Hassan Al‐Shehri, Lana Al‐qhtani, Syed Parween Ali, Umme Hani, Talha Bin Emran   +11 more
wiley   +1 more source

A Drosophila model of prion disease and its metabolic changes in the brain

Animal Models and Experimental Medicine, EarlyView.
We developed a Drosophila model for prion disease, and flies were capable of expressing the hamster prion protein (HaPrP) under the control of the GAL4/UAS system. The model exhibited some characteristics of the disease in mammals and displayed alterations in protein, sphingolipid, and carbohydrate metabolism. Preliminary applications have demonstrated
Dongdong Wang, Zhixin Sun, Pei Wen, Mengyang Zhao, Yuheng He, Fengting Gou, Jingjing Wang, Qing Fan, Xueyuan Li, Tianying Ma, Xiaoyu Wang, Wen Li, Sen Chen, Deming Zhao, Lifeng Yang   +14 more
wiley   +1 more source