Lipoatrophic diabetes is a syndrome characterized by insulin resistance in association with a paucity of adipose tissue. Patients with severe lipoatrophy die prematurely, typically from the complications of diabetes or liver disease. Experiments with lipoatrophic mice suggest that the insulin resistance is caused by the lack of adipose tissue. Adipose tissue normally produces leptin, a hormone that increases insulin action. For the last fourteen years, we have been studying the extent to which leptin deficiency causes diabetes in lipoatrophic patients. In fact, in our initial study we have seen nearly 60% amelioration of fasting glucose, triglycerides and free fatty acid levels and about 2% actual decreases from baseline HbA1c levels with 4 months of leptin replacement therapy. This response has continued to be sustained, as we continue to follow patients that have now received leptin replacement therapy for fourteen years.. This is an open-labeled study. The study monitors the safety and ...

The role of different tissues in insulin action and their contribution to the pathogenesis of diabetes remain unclear. To examine this question, we have used genetic reconstitution experiments in mice. Genetic ablation of insulin receptors causes early postnatal death from diabetic ketoacidosis. We show that combined restoration of insulin receptor function in brain, liver, and pancreatic β cells rescues insulin receptor knockout mice from neonatal death, prevents diabetes in a majority of animals, and normalizes adipose tissue content, lifespan, and reproductive function. In contrast, mice with insulin receptor expression limited to brain or liver and pancreatic β cells are rescued from neonatal death, but develop lipoatrophic diabetes and die prematurely. These data indicate, surprisingly, that insulin receptor signaling in noncanonical insulin target tissues is sufficient to maintain fuel homeostasis and prevent diabetes.. ...

Clinical use of recombinant fibroblast growth factor 21 (FGF21) for the treatment of type 2 diabetes and other disorders linked to obesity has been proposed; however, its clinical development has been challenging owing to its poor pharmacokinetics. Here, we describe an alternative antidiabetic strategy using agonistic anti-FGFR1 (FGF receptor 1) antibodies (R1MAbs) that mimic the metabolic effects of FGF21. A single injection of R1MAb into obese diabetic mice induced acute and sustained amelioration of hyperglycemia, along with marked improvement in hyperinsulinemia, hyperlipidemia, and hepatosteatosis. R1MAb activated the mitogen-activated protein kinase pathway in adipose tissues, but not in liver, and neither FGF21 nor R1MAb improved glucose clearance in lipoatrophic mice, which suggests that adipose tissues played a central role in the observed metabolic effects. In brown adipose tissues, both FGF21 and R1MAb induced phosphorylation of CREB (cyclic adenosine 5′-monophosphate response ...

In here, well be discussing insulin-resistant diabetes and what you can do to keep it under control, all without medication. Why drugs and medications are not the right choice for helping you overcome diabetes and how relying solely on medications will be setting yourself up for failure. This will provide you with information on the natural remedies that will help you get your diabetes under control once and for all. In addition to looking at some of the basics relating to Type-2 diabetes, we will discuss why medications can be so bad for you when it comes to treating this disease. We will also look at alternative ways to treat diabetes and even get it reversed. While most of us have been told that diabetes is untreatable, its a progressive disease, and we must take drugs and medication to control our blood sugar levels, there is mounting evidence that this is simply not true. We simply need to learn how to give our bodies the right tools and proper care to reverse diabetes naturally. ...

How real are Cubas accomplishments in health and education since the revolution? How do they compare with the situation prior to the revolution? Was the Soviet Unions subsidy to Cuba crucial to its human development? Did the US hostility to the Cuban Revolution have an impact? { Edit-Addendum 26 Nov. 2016: This blogpost was written 2.5 years…

Familial partial lipodystrophy (FPL), also known as Köbberling-Dunnigan syndrome, is a rare genetic metabolic condition characterized by the loss of subcutaneous fat. FPL also refers to a rare metabolic condition in which there is a loss of subcutaneous fat in the arms, legs and lower torso. The upper section of the body, face, neck, shoulders, back and trunk carry an excess amount of fat. As the body is unable to store fat correctly this leads to fat around all the vital organs and in the blood (triglycerides). This results in heart problems, cirrhosis of the liver, lipoatrophic diabetes, and pancreatitis, along with various other complications. Type 1 is believed to be underdiagnosed. A mutations in a number of genes have been associated with this condition. Mutations associated with FPL have been reported in LMNA (lamin A/C), PPARG (PPARγ), AKT2 (AKT serine/threonine kinase 2), PLIN1 (perilipin-1), and CIDEC (cell-death-inducing DFFA-like effector B). Six types (1-6) have been described. ...

Understanding how the neurotransmitter GABA influences the metabolic impact of fat could lead to new treatments for insulin-resistant diabetes.

मुंबई: बॉलीवुड अभिनेत्री रकुल प्रीत सिंह ड्रग्स केस में पूछताछ के लिए एनसीबी टीम के सामने पहुंच गई हैं।रकुल प्रीत से पूछताछ का ये पहला दिन हैं रकुल प्रीत सिंह को एनसीबी के सामने कल ही आना था लेकिन समन...

We tested the effect of chronic leptin treatment on fasting-induced torpor in leptin-deficient A-ZIP/F-1 and ob/ob mice. A-ZIP/F-1 mice have virtually no white adipose tissue and low leptin levels, whereas ob/ob mice have an abundance of fat but no leptin. These two models allowed us to examine the roles of adipose tissue and leptin in the regulation of entry into torpor. Torpor is a short-term hi ...

Hello and thanks for posting. It is not common to see lipoatrophy with Atripla, but it sometimes does occur. As you say, it is sometimes very difficult to spot early lipoatrophy and distinguish...

Hi all Ive decided that i am probably going to try Copaxone as seems best suited to me and should fit into my daily life ok. The only side effect I am concerned about is Lipoatrophy. Has anyone experienced this with thi…

Dunnigan-type familial partial lipodystrophy, also known as FPLD Type II and abbreviated as (FPLD2), is a rare monogenic form of insulin resistance characterized by loss of subcutaneous fat from the extremities, trunk, and gluteal region. FPLD recapitulates the main metabolic attributes of the insulin resistance syndrome, including central obesity, hyperinsulinemia, glucose intolerance and diabetes usually type 2, dyslipidemia, hypertension, and early endpoints of atherosclerosis. It can also result in hepatic steatosis. FPLD results from mutations in LMNA gene, which is the gene that encodes nuclear lamins A and C. Familial partial lipodystrophy Hegele, RA (December 2000). Familial partial lipodystrophy: A monogenic form of the insulin resistance syndrome. Molecular Genetics and Metabolism. 71 (4): 539-44. doi:10.1006/mgme.2000.3092. PMID 11136544. Hegele, RA (September 2000). Insulin resistance in human partial lipodystrophy. Current Atherosclerosis Reports. 2 (5): 397-404. ...

Berardinelli-Seip congenital lipodystrophy (BSCL) is a heterogeneous autosomal recessive disorder characterized by an almost total lack of adipose tissue in the body. Mutations in the AGPAT2, BSCL2, CAV1 and PTRF genes define I-IV subtype of BSLC respectively and clinical data indicate that new causative genes remain to be discovered. Here, we retrieved 341 cases from 60 BSCL-related studies worldwide and aimed to explore genotype-phenotype correlations based on mutations of AGPAT2 and BSCL2 genes from 251 cases. We also inferred new candidate genes for BSCL through protein-protein interaction and phenotype-similarity. Analysis results show that BSCL type II with earlier age of onset of diabetes mellitus, higher risk to suffer from premature death and mental retardation, is a more severe disorder than BSCL type I, but BSCL type I patients are more likely to have bone cysts. In BSCL type I, females are at higher risk of developing diabetes mellitus and acanthosis nigricans than males, while in BSCL type

I also think there is a CNS interaction in the middle of all this, where insulin induced transient crushed FFA oxidation , is perceived by the brain, drives the hunger of reactive hypoglycemia. Glucose numbers widely reported as normal during patients with reactive hypoglycemia, although subjective hunger/weakness of the pt. What is not seen is a mitochondrial energy drop from abrupt insulin surges interfering with FFA oxidation and likely swift suppression of available FFA. I gained insight into a likely FFA driven mechanism of reactive hypoglycemia when I had it occur to me eating MCTs (cocohnut) while low carb. My glucose numbers shifted only slightly, my ketones ROSE, but likely what my meters could not tell me is the insulin produced from exogenous ketones inhibited FFA level/fat oxidation to produce the hallmark weakness/hunger of hypoglycemia as known by patients. As a leptin insufficient weight reduced person with very sensitive WAT tissue, trivial insulin elevations can suppress ...

Mutations in the BSCL2 gene underlie human type 2 Berardinelli-Seip congenital lipodystrophy (BSCL2) disease. Global Bscl2-/- mice recapitulate human BSCL2 lipodystrophy and results in the development of insulin resistance and hypertrophic cardiomyopathy. The pathological mechanisms underlying the development of lipodystrophy and cardiomyopathy in BSCL2 are controversial. Here we report that Bscl2-/- mice develop cardiac hypertrophy because of increased basal IGF1 receptor-mediated (IGF1R-mediated) PI3K/AKT signaling. Bscl2-/- hearts exhibited increased adipose triglyceride lipase (ATGL) protein stability and expression causing drastic reduction of glycerolipids. Excessive fatty acid oxidation was overt in Bscl2-/- hearts, partially attributing to the hyperacetylation of cardiac mitochondrial proteins. Intriguingly, pharmacological inhibition or genetic inactivation of ATGL could rescue adipocyte differentiation and lipodystrophy in Bscl2-/- cells and mice. Restoring a small portion of fat mass ...

Mutations in the BSCL2 gene underlie human type 2 Berardinelli-Seip congenital lipodystrophy (BSCL2) disease. Global Bscl2-/- mice recapitulate human BSCL2 lipodystrophy and results in the development of insulin resistance and hypertrophic cardiomyopathy. The pathological mechanisms underlying the development of lipodystrophy and cardiomyopathy in BSCL2 are controversial. Here we report that Bscl2-/- mice develop cardiac hypertrophy because of increased basal IGF1 receptor-mediated (IGF1R-mediated) PI3K/AKT signaling. Bscl2-/- hearts exhibited increased adipose triglyceride lipase (ATGL) protein stability and expression causing drastic reduction of glycerolipids. Excessive fatty acid oxidation was overt in Bscl2-/- hearts, partially attributing to the hyperacetylation of cardiac mitochondrial proteins. Intriguingly, pharmacological inhibition or genetic inactivation of ATGL could rescue adipocyte differentiation and lipodystrophy in Bscl2-/- cells and mice. Restoring a small portion of fat mass ...

Summary is not available for the mouse gene. This summary is for the human ortholog.] The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.[provided by RefSeq, Mar 2010 ...

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies. ...

president and chief executive officer of Amylin. Metreleptin is an integral component of our ongoing commitment to improve the lives of patients with metabolic diseases - from the rarest to the most prevalent. Fat tissue is a major endocrine organ producing important metabolic hormones such as leptin. People with lipodystrophy lack the required fat tissue for normal metabolic function. This can be partial, affecting select areas of the body, or generalized, affecting nearly the entire body. A lack of fat tissue can lead to relative deficiency of leptin. Without adequate leptin function, the metabolic system, which regulates food intake and the storage and break-down of dietary fat and carbohydrates, falls out of balance. As a result, fat accumulates in the blood and organs such as liver and muscle, which can lead to life-threatening complications including insulin-resistant diabetes, hypertriglyceridemia, acute pancreatitis, and hepatic steatosis or steatohepatitis, also known as fatty liver ...

Over the years, Taylor and his colleagues have made major contributions to understanding the insulin action pathway and insulin resistance. The inability to use the hormone effectively is characteristic of type 2 diabetes. In particular, Taylors group has determined how and why insulin fails to act in patients with leprechaunism, Type A insulin resistance and other genetic forms of insulin resistance. They also have developed a mouse model for a form of insulin-resistant diabetes. Simeon was the lead person in the world studying genetic defects in the insulin receptor, said Dr. Phillip Gorden, director emeritus of NIDDK. He attracted collaborators from all over the world, and they were able to relate specific receptor mutations to particular kinds of insulin resistance and to individual patients. These mutations reduced the number of receptors or inhibited the receptors ability to mediate the effects of insulin on cells. In 1992, Taylor received the American Diabetes Associations ...

Congenital generalized lipodystrophy, or Berardinelli-Seip syndrome (BSCL), is a rare autosomal recessive disease characterized by a near-absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biological features include acanthosis nigricans, hyperand …

Familial partial lipodystrophy is a rare condition characterized by an abnormal distribution of fatty (adipose) tissue. Explore symptoms, inheritance, genetics of this condition.

Metabolic & Genetic Information Center Inborn erros of metabolism LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2 CGL2 BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 2

Bscl2 plays a role in browning adipose tissue. Many of us have gone on diets to decrease body fat. But what if you needed to put on fat? People born with Berardinelli-Seip congenital lipodystrophy would do anything to gain just a few pounds. Patients suffering from the disease have mutations in their BSCL2 gene that result in a lack of fatty tissue in the body and a lack of functioning adipoctyes for lipid storage. They develop insulin resistance, accumulate fat in both muscle and the liver, and are prone to type 2 diabetes. Recently, the role of Bscl2 regulation in mature adipocyte maintenance was investigated and the results described in the Journal of Lipid Research.. Two primary forms of adipose tissue are present in the body: white and brown. White adipose tissue, or WAT, mainly functions as energy storage, releasing fatty acids into the bloodstream to feed the body, while brown adipose tissue, or BAT, acts to generate heat by consuming fat stores and is predominant in infants, who cannot ...

Maeda M, Maeda T, Ebihara K, Ihara K. The long-term management of congenital generalized lipodystrophy (Berardinelli-Seip syndrome): the clinical manifestations of Japanese siblings for approximately 20 years. Clin Pediatr Endocrinol 2019;28(4):139-45. Berardinelli W. An undiagnosed endocrinometabolic syndrome: report of 2 cases. J Clin Endocrinol Metab 1954;14(2):193-204. Seip M, Trygstad O. Generalized lipodystrophy. Arch Dis Child 1963;38(201):447-53. Chiquette E, Oral EA, Garg A, Araujo-Vilar D, Dhankhar P. Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges. Diabetes Metab Syndr Obes 2017:375-83. Ferraria N, Pedrosa C, Amaral D, Lopes L. Berardinelli-Seip syndrome: highlight of treatment challenge. BMJ Case Rep 2013;2013:bcr2012007734. Beltrand J, Beregszaszi M, Chevenne D, Sebag G, Kerdanet MD, Huet F, et al. Metabolic correction induced by leptin replacement treatment in young children with Berardinelli-Seip congenital lipoatrophy. Pediatrics ...

Genetic lipodystrophies are a group of rare syndromes associated with major metabolic complications - including severe insulin resistance, type 2 diabetes mellitus, and hypertriglyceridemia - which are classified according to the distribution of adipose tissue. Lipodystrophies can be present at birth or develop during life and can range from local to partial and general. With at least 18 different genes implicated so far, definite diagnosis can be challenging due to clinical and genetic heterogeneity. In an adult female patient with clinical and metabolic features of partial lipodystrophy we identified via whole genome sequencing (WGS) a single complex AGPAT2 allele [V67M;V167A], functionally equivalent to heterozygosity. AGPAT2 encodes for an acyltransferase implicated in the biosynthesis of triacylglycerol and glycerophospholipids. So far homozygous and compound heterozygous mutations in AGPAT2 have only been associated with generalized lipodystrophy. A SNP risk score analysis indicated that the index

A 42-year-old woman with a known diagnosis of acquired partial lipodystrophy (PLD) presented to the ophthalmic clinic with blurring and distortion of vision in the left eye. On general inspection, she had classic lipoatrophy in the cephalothoracic distribution. Ophthalmic examination showed right vision 6/5 and left 6/18. She had marked bilateral drusen and retinal pigment … ...

MalaCards based summary : Insr-Related Severe Syndromic Insulin Resistance is related to pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities and donohue syndrome. An important gene associated with Insr-Related Severe Syndromic Insulin Resistance is INSR (Insulin Receptor). Affiliated tissues include kidney, ovary and pineal ...

1998 11 18.43762 04 59 35.44 +21 49 05.4 22.6R 98WY24 695 Ca3208 1998 11 18.50897 04 59 35.07 +21 49 04.7 98WY24 695 Ca3208 1998 11 19.49641 04 59 30.18 +21 48 57.5 22.5R 98WY24 695 a3608 1998 11 19.53615 04 59 29.97 +21 48 57.4 98WY24 695 a3608 1998 11 26.37301 04 58 55.18 +21 48 06.5 22.7R 98WY24 695 Ca3208 1998 11 27.37204 04 58 50.01 +21 47 59.2 98WY24 695 Ca3208 1998 12 19.01745 04 56 55.74 +21 45 18.4 22.7R 98WY24 950 a3608 1998 12 19.10795 04 56 55.29 +21 45 17.3 98WY24 950 a3608 1998 12 19.15789 04 56 55.04 +21 45 16.8 98WY24 950 a3608 1999 01 22.30591 04 54 23.97 +21 41 59.6 22.9R 98WY24 568 Ca5544 1999 01 22.35924 04 54 23.79 +21 41 59.7 98WY24 568 Ca5545 1999 01 23.34528 04 54 20.55 +21 41 55.8 98WY24 568 Ca5545 2000 11 23.44734 05 10 59.69 +22 09 06.5 22.8R 98WY24 695 Cc3588 2000 11 23.49502 05 10 59.45 +22 09 06.2 98WY24 695 Cc3588 2000 11 27.35230 05 10 39.68 +22 08 43.3 23.1R 98WY24 695 Cc3588 2000 11 27.42891 05 10 39.28 +22 08 42.9 23.1R 98WY24 695 Cc3588 2000 11 28.39859 05 10 ...

We have been addressing this issue for the last few years. There are no simple answers unfortuantely. The cause of this type of wasting - lipodystrophy or LD - is not clearly tied to the HIV...

Internacjonalizacja studiów wyższych Redakcja Waldemar Martyniuk Internacjonalizacja studiów wyższych Redakcja Waldemar Martyniuk Internacjonalizacja studiów wyższych Redakcja Waldemar Martyniuk Fundacja

Lipodystrophies are disorders of adipose tissue (fat) characterized by selective loss of fat from various parts of the body. There are several different types of lipodystrophies and the degree of fat loss may vary from very small depressed areas to near complete absence of adipose tissue. The extent of fat loss may determine the severity of metabolic complications related to insulin resistance, such as diabetes mellitus and high levels of serum triglycerides. Some patients may have only cosmetic problems while others may also have severe metabolic complications.. Inherited lipodystrophies are caused by mutations (alterations or blips) in a gene. Several genes responsible for different types of inherited lipodystrophies have been identified. These include AGPAT2 (1-acylglycerol-3-phosphate-O-acyltransferase 2), BSCL2 (Berardinelli-Seip congenital lipodystrophy 2) in Congenital Generalized Lipodystrophy (CGL), Lamin A/ C (LMNA) gene in Familial Partial Lipodystrophy Dunnigan variety (Familial ...

Congenital generalized lipodystrophy (also called Berardinelli-Seip congenital lipodystrophy) is a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and a very muscular appearance. Adipose tissue is found in many parts of the body, including beneath the skin and surrounding the internal organs. It stores fat for energy and also provides cushioning. Congenital generalized lipodystrophy is part of a group of related disorders known as lipodystrophies, which are all characterized by a loss of adipose tissue. A shortage of adipose tissue leads to the storage of fat elsewhere in the body, such as in the liver and muscles, which causes serious health problems.. The signs and symptoms of congenital generalized lipodystrophy are usually apparent from birth or early childhood. One of the most common features is insulin resistance, a condition in which the bodys tissues are unable to recognize insulin, a hormone that normally helps to regulate blood sugar levels. ...

Partial lipodystrophy with nephrotic syndrome.: A patient with nephrotic syndrome in association with partial lipodystrophy is reported. The features of partial

DESCRIPTION (provided by applicant): Ataxia-telangiectasia (A-T) is a multi-systemic, recessively inherited disorder that affects between 1 in 40,000 to 1 in 100,000 individuals worldwide. It is characterized primarily by early onset cerebellar ataxia andtelangiectasia, from which the disease name is derived. In addition, patients also exhibit a number of other clinical symptoms including increased susceptibility to cancer (lymphomas, leukemia, brain tumors), immunodeficiency, insulin-resistant diabetes, chromosomal instability, sensitivity to ionizing radiation, susceptibility to bronchopulmonary disease, and the absence, or almost complete absence, of a thymus. Current treatments for A-T are directed toward the management of symptoms. Physical and speechtherapy can improve the lives of patients, and -globulin injections can be given to support the immune system. However, no treatment is directed at the underlying defect. Consequently, A-T remains a fatal disease. The development of improved ...

Schlögl, H.; Mueller, K.; Horstmann, A.; Möller, H. E.; Miehle, K.; Pleger, B.; Villringer, A.; Fasshauer, M.; Stumvoll, M.: Connectivity increase in reward-related brain regions in patients with congenital lipodystrophy: A longitudinal study with leptin-substitution treatment. 22nd Scientific Meeting of the International Society for Magnetic Resonance in Medicine (ISMRM), Milano, Italy (2014 ...

Delayed Onset of Infection Development after Polyalkylimide Treatment for HIV-Associated Lipoatrophy Bio-Alcamid, a polyalkylimide, is a non-reabsorbable polymeric subst..

The current study represents a further contribution to the search of molecular transducers involved in the insulin-sensitizing effect of exercise. Here, we provide evidence to support that AMPK is necessary for increasing insulin sensitivity to stimulate glucose uptake in EDL muscle after in situ contraction, as well as enhancing whole-body insulin sensitivity and insulin-stimulated muscle glucose uptake after a single bout of acute exercise. We establish a causal link between a contraction-regulated signal and the subsequent improvement in muscle insulin sensitivity. On the basis of our findings, we propose that contraction-induced activation of AMPK potentiates the ability of insulin to increase phosphorylation of TBC1D4 leading to enhanced muscle glucose uptake.. Theoretically, synthesis of new proteins involved in muscle glucose uptake may mediate improvements in skeletal muscle insulin sensitivity after contraction. However, we found that greater insulin-stimulated glucose uptake after ...

Perilipin 1 is a lipid droplet coat protein predominantly expressed in adipocytes, where it inhibits basal and facilitates stimulated lipolysis. Loss-of-function mutations in the PLIN1 gene were recently reported in patients with a novel subtype of familial partial lipodystrophy, designated as FPLD4. We now report the identification and characterization of a novel heterozygous frameshift mutation affecting the carboxy-terminus (439fs) of perilipin 1 in two unrelated families. The mutation cosegregated with a similar phenotype including partial lipodystrophy, severe insulin resistance and type 2 diabetes, extreme hypertriglyceridemia, and nonalcoholic fatty liver disease in both families. Poor metabolic control despite maximal medical therapy prompted two patients to undergo bariatric surgery, with remarkably beneficial consequences. Functional studies indicated that expression levels of the mutant protein were lower than wild-type protein, and in stably transfected preadipocytes the mutant protein was

Akcea Therapeutics, Inc. is a biopharmaceutical company. The Company is focused on developing and commercializing drugs to treat patients with serious cardiometabolic diseases caused by lipid disorders. The Companys drugs, volanesorsen, AKCEA-APO(a)-LRx, AKCEA-ANGPTL3-LRx and AKCEA-APOCIII-LRx, are all based on antisense technology developed by Ionis Pharmaceuticals, Inc. (Ionis). The Companys volanesorsen drug has completed a Phase III clinical program for the treatment of familial chylomicronemia syndrome (FCS) and is currently in Phase III clinical development for the treatment of familial partial lipodystrophy (FPL). The Companys clinical pipeline contains drugs with the potential to treat inadequately addressed lipid disorders beyond elevated LDL-C that are contributing to the dramatic increase in the incidence of cardiometabolic disease, such as elevated triglycerides, oxidized phospholipids and other lipoproteins, such as lipoprotein(a), or Lp(a).

Ionis Pharmaceuticals, Inc. is engaged in discovering and developing ribonucleic acid (RNA)-targeted therapeutics. The Company, using its drug discovery platform, has developed a pipeline of drugs for patients with unmet medical needs. The Companys segments include Ionis Core and Akcea Therapeutics. In the Ionis Core segment, the Company is engaged in exploiting a drug discovery platform to generate a pipeline of drugs for the Company and its partners. The Akcea Therapeutics segment includes the operations of the Companys subsidiary, Akcea Therapeutics, Inc. (Akcea Therapeutics). Akcea Therapeutics is focused on developing and commercializing volanesorsen and other clinical-stage drugs for serious cardiometabolic diseases caused by lipid disorders. The Company is developing volanesorsen to treat two severe and rare, genetically defined diseases, familial chylomicronemia (FCS) and familial partial lipodystrophy (FPL). The Company offers SPINRAZA, a Generation 2.0+ antisense drug.. ...

Generalized lipodystrophy is a disorder characterized by loss of adipose tissue and, usually, metabolic disturbance due to deficiency of hormones derived from these tissues, most importantly leptin. Generalized lipodystrophy (GL) may be divided in congenital GL, also known as Berardinelli-Seip syndrome and acquired GL, referred to as Lawrence syndrome.… Generalized Lipodystrophy (Berardinelli Seip Syndrome): Read more about Symptoms, Diagnosis, Treatment, Complications, Causes and Prognosis.

Cardiomyopathy - Generalised lipodystrophy Factor. Last reviewed for CCPS 18 July 2007.. Preliminary questions [38164]. 38165 [1] there is some evidence that generalised lipodystrophy may be a factor in the development or worsening of the condition under consideration.. 38166 [1] the veteran has had generalised lipodystrophy at some time.. 38532 - generalised lipodystrophy means a rare disturbance of fat metabolism that may be inherited (primary) or acquired (secondary).. 38169 - the veteran has established the causal connection between generalised lipodystrophy and VEA service for cardiomyopathy.. 38167 [2] the veteran had the identified illness or injury, a type of generalised lipodystrophy, at the time of the clinical onset of the condition under consideration.. 38170 - the veteran has established the causal connection between generalised lipodystrophy and VEA service for the clinical onset of cardiomyopathy.. 38172 - the veteran has established the causal connection between generalised ...

Schlögl, H.; Mueller, K.; Horstmann, A.; Möller, H. E.; Miehle, K.; Pleger, B.; Villringer, A.; Fasshauer, M.; Stumvoll, M.: Connectivity increase in reward-related brain regions in patients with congenital lipodystrophy: A longitudinal study with leptin-substitution treatment. 22nd Scientific Meeting of the International Society for Magnetic Resonance in Medicine (ISMRM), Milano, Italy (2014 ...

Lipodystrophy or lipoatrophy is primary idiopathic atrophy of adipose tissue. Lipodystrophy is a very rare disorder with no known etiology.

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Tytu patentu: Spos b wytwarzania estr w etylowych wy szych kwas w t uszczowych przeznaczonych zw aszcza na biopaliwo do silnik w z zap onem samoczynnym. ...

Psychiatria i Psychologia Kliniczna - zadanie finansowane w ramach umowy 789/P-DUNdem/2019 ze środków Ministra Nauki i Szkolnictwa Wyższego przeznaczonych na działalność upowszechniającą naukę.. ...

Idiopathic DCM is estimated to be associated with a familial component in 20-48% of cases, with AD inheritance being the predominant pattern of transmission, while X-linked, AR, and mitochondrial inheritance are less common.20-36 Two major forms of AD DCM have been recognized: isolated (or pure) DCM, and DCM associated with cardiac conduction system disease. Its pathophysiology is poorly understood. Some mutations result in DCM and conduction disease alone,20 while others lead to juvenile-onset muscular dystrophies, including Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy with insulin-resistant diabetes.20. X-linked inheritance accounts for about 5% of familial cases of DCM,14,20 and may occur in Duchenne, Becker, and Emery-Dreifuss muscular dystrophies.22 Mutations in mitochondrial tRNAs, which have matrilineal inheritance, affect cardiac function and hearing. They are usually associated with encephalopathy, skeletal myopathies and metabolic abnormalities.20. Clinical ...

TY - JOUR. T1 - Molecular mechanisms of insulin resistance in 2 cases of primary insulin receptor defect-associated diseases. AU - Tsuji-Hosokawa, Atsumi. AU - Takasawa, Kei. AU - Nomura, Risa. AU - Miyakawa, Yuichi. AU - Numakura, Chikahiko. AU - Hijikata, Atsushi. AU - Shirai, Tsuyoshi. AU - Ogawa, Yoshihiro. AU - Kashimada, Kenichi. AU - Morio, Tomohiro. PY - 2017/12. Y1 - 2017/12. N2 - Background: Defects of the insulin receptor gene (INSR) cause wide spectra of congenital insulin resistance. Monoallelic defects result in milder insulin-resistant diabetes mellitus with acanthosis nigricans (IRAN, type A). Whereas, leprechaunism (Donahue syndrome), the most severe condition with lethality during the infantile period is caused by biallelic defects of INSR. Materials and Methods: We detected 2 missense mutations in 2 cases of leprechaunism and IRAN, type A, and reduced mRNA expression in the leprechaunism case. We performed an in vitro analysis to confirm that the 2 missense mutations are ...

B Barraquer-Simons sendromu. Nedeni bilinmiyor (otoimmun hastalık kuşkusu). Edinsel bir lipodistrofi türü. Baş-boyun ve yüz çevresi ile toraks yağ dokusunun progressif atrofisi. Diabetes mellitus. Hipertrigliseridemi. Hipokomplemantemi. Karaciğer yağlanması. Nolis T. Exploring the pathophysiology behind the more common genetic and acquired lipodystrophies. Journal of Human Genetics, 59(1):16-23, 2014. Simsek-Kiper PO, Roach E, Utine GE, Boduroglu K. Barraquer-Simons syndrome: a rare clinical entity. American Journal of Medical Genetics A, 164A(7):1756-1760, 2014. Akinci B, Koseoglu FD, Onay H, et al. Acquired partial lipodystrophy is associated with increased risk for developing metabolic abnormalities. Metabolism, 64(9):1086-1095, 2015. ...

Definition of insulin lipoatrophy. Provided by Stedmans medical dictionary and Drugs.com. Includes medical terms and definitions.

Mutations in BSCL2 gene underlie human Congenital Generalized Lipodystrophy type 2 (CGL2) diseases. CGL2 is an autosomal recessive disorder characterized by a ...