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There are three main types of Pfeiffer syndrome: type I is the mildest and most common; type II is the most severe, with neurological problems and a cloverleaf deformity; and type III is similar to type II, but without the cloverleaf deformity.
Proximal diabetic neuropathy is a type of diabetic neuropathy characterized by muscle wasting, weakness, pain, or changes in sensation/numbness of the leg. It is caused by damage to the nerves of the lumbosacral plexus . Proximal diabetic neuropathy is most commonly seen people with type 2 diabetics. [1]
Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Because the branchial arches are important developmental features in a growing embryo, disturbances in their development ...
The condition is often called latent autoimmune diabetes of adults, or LADA for short. Patients with it can be misdiagnosed with Type 2 diabetes and spend months or years trying to manage the ...
Diabetic cheiroarthropathy, also known as Diabetic stiff hand syndrome or limited joint mobility syndrome, is a cutaneous condition characterized by waxy, thickened skin and limited joint mobility of the hands and fingers, leading to flexion contractures, a condition associated with diabetes mellitus [1] : 681 and it is observed in roughly 30% ...
Diabetic foot ulcer is a breakdown of the skin and sometimes deeper tissues of the foot that leads to sore formation. It may occur due to a variety of mechanisms. It is thought to occur due to abnormal pressure or mechanical stress chronically applied to the foot, usually with concomitant predisposing conditions such as peripheral sensory neuropathy, peripheral motor neuropathy, autonomic ...
Type 2 diabetes (T2D), formerly known as adult-onset diabetes, is a form of diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin. Common symptoms include increased thirst, frequent urination, fatigue and unexplained weight loss.
Nephrogenic diabetes insipidus, recently renamed as arginine vasopressin resistance (AVP-R) and also previously known as renal diabetes insipidus, is a form of diabetes insipidus primarily due to pathology of the kidney. This is in contrast to central or neurogenic diabetes insipidus, which is caused by insufficient levels of vasopressin (also ...
Endocrinology. Glycogen storage disease type II (GSD-II), also called Pompe disease, and formerly known as GSD-IIa or LGMD 2V, is an autosomal recessive metabolic disorder [1] which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha ...
Polygenic. Genetic cause and mechanism of type 2 diabetes is largely unknown. However, single nucleotide polymorphism (SNP) is one of many mechanisms that leads to increased risk for type 2 diabetes. To locate genes and loci that are responsible for the risk of type 2 diabetes, genome wide association studies (GWAS) was utilized to compare the ...