Prominent publications by Vinaya Simha

KOL Index score: 12599

AIM: To evaluate the effect of alirocumab on frequency of standard apheresis treatments [weekly or every 2 weeks (Q2W)] in heterozygous familial hypercholesterolaemia (HeFH).

METHODS AND RESULTS: ODYSSEY ESCAPE (NCT02326220) was a double-blind study in 62 HeFH patients undergoing regular weekly or Q2W lipoprotein apheresis. Patients were randomly assigned (2:1, respectively) to receive alirocumab 150 mg (n = 41) or placebo (n = 21) Q2W subcutaneously for 18 weeks. From day 1 to week 6, ...

Also Ranks for: Lipoprotein Apheresis |  alirocumab patients |  monoclonal antibodies |  familial hypercholesterolaemia |  baseline week
KOL Index score: 11430

BACKGROUND: Many patients with heterozygous familial hypercholesterolemia (HeFH) fail to reach optimal low-density lipoprotein cholesterol (LDL-C) levels with available lipid-lowering medications, including statins, and require treatment using alternative methods such as lipoprotein apheresis.

OBJECTIVE: To evaluate the efficacy of alirocumab 150 mg every 2 weeks (Q2W) compared with placebo in reducing the frequency of lipoprotein apheresis treatments in patients with HeFH.


Also Ranks for: Lipoprotein Apheresis |  alirocumab patients |  odyssey escape |  monoclonal antibodies |  familial hypercholesterolemia
KOL Index score: 11212

Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive syndrome characterized by extreme paucity of adipose tissue since birth, acanthosis nigricans, severe insulin resistance, marked hypertriglyceridemia, and early-onset diabetes mellitus. Recently, we reported mutations in the 1-acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2) gene in CGL pedigrees linked to chromosome 9q34 (CGL1 subtype), and mutations in the Seipin gene were reported in pedigrees linked to ...

Also Ranks for: Phenotypic Heterogeneity |  body fat |  seipin gene |  adipose tissue |  lipodystrophy cgl
KOL Index score: 10693

Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by near complete absence of adipose tissue from birth. Recently, mutations in 1-acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2) and Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) genes were reported in pedigrees linked to chromosomes 9q34 and 11q13, respectively. There are limited data regarding phenotypic differences between the various subtypes of CGL. Furthermore, whether there ...

Also Ranks for: Genetic Heterogeneity |  agpat2 bscl2 cgl |  generalized lipodystrophy |  mutations bscl2 gene |  additional loci
KOL Index score: 10420

CONTEXT: Hutchinson-Gilford progeria syndrome (HGPS) and mandibuloacral dysplasia are well-recognized allelic autosomal dominant and recessive progeroid disorders, respectively, due to mutations in lamin A/C (LMNA) gene. Heterozygous LMNA mutations have also been reported in a small number of patients with a less well-characterized atypical progeroid syndrome (APS).

OBJECTIVE: The objective of the study was to investigate the underlying genetic and molecular basis of the phenotype of ...

Also Ranks for: Lmna Mutations |  progeroid syndrome |  aps patients |  mandibuloacral dysplasia |  skin fibroblasts
KOL Index score: 9802

BACKGROUND: The adipocyte hormone leptin is important in regulating energy homeostasis. Since severe lipodystrophy is associated with leptin deficiency, insulin resistance, hypertriglyceridemia, and hepatic steatosis, we assessed whether leptin replacement would ameliorate this condition.

METHODS: Nine female patients (age range, 15 to 42 years; eight with diabetes mellitus) who had lipodystrophy and serum leptin levels of less than 4 ng per milliliter (0.32 nmol per milliliter) received ...

Also Ranks for: Replacement Therapy |  recombinant leptin |  patients lipodystrophy |  energy homeostasis |  diabetes mellitus
KOL Index score: 9666

CONTEXT: The number of patients who undergo Roux-en-Y gastric bypass (RYGB) and gastric banding (GB) surgeries has increased dramatically over the past decade, yet the long-term impact of these surgeries on body weight, comorbidities, and nutritional status remains unclear, as do the mechanisms of weight regain.

EVIDENCE ACQUISITION: The articles were found via PubMed searches. To review the impact of bariatric surgery on weight maintenance and comorbidities, only articles with a ...

Also Ranks for: Nutritional Status |  bariatric surgery |  weight regain |  energy intake |  morbid obesity
KOL Index score: 9579

Generalized lipodystrophy is a rare disorder characterized by marked loss of adipose tissue with reduced triglyceride storage capacity, leading to a severe form of metabolic syndrome including hypertriglyceridemia, insulin resistance, type 2 diabetes mellitus, and hepatic steatosis. Recent echocardiographic studies suggest that concentric left ventricular (LV) hypertrophy is another characteristic feature of this syndrome, but the mechanism remains unknown. It has recently been ...

Also Ranks for: Generalized Lipodystrophy |  cardiac steatosis |  magnetic resonance |  ventricular hypertrophy |  adipose tissue
KOL Index score: 8952

CONTEXT: Mandibuloacral dysplasia (MAD) is an autosomal recessive progeroid disorder associated with type A (partial) or B (generalized) lipodystrophy and is due to mutations in lamin A/C (LMNA) or zinc metalloproteinase (ZMPSTE24) genes.

OBJECTIVE: The objective of the study was to report a novel syndrome with some overlapping features with MAD.

RESULTS: We report seven patients with mandibular hypoplasia, deafness, progeroid features (MDP), and associated lipodystrophy. These patients ...

Also Ranks for: Mandibular Hypoplasia |  progeroid features |  lipodystrophy patients |  mandibuloacral dysplasia |  beaked nose
KOL Index score: 8719

CONTEXT: Leptin replacement therapy improves metabolic complications in patients with lipodystrophy and severe hypoleptinemia (SH), but whether the response is related to the degree of hypoleptinemia remains unclear.

OBJECTIVE: The aim of the study was to compare efficacy of leptin therapy in familial partial lipodystrophy, Dunnigan variety (FPLD) patients with SH (serum leptin<7th percentile of normal) vs. those with moderate hypoleptinemia (MH; serum leptin in 7th to 20th ...

Also Ranks for: Familial Partial Lipodystrophy |  leptin replacement therapy |  dunnigan variety |  fpld patients |  serum triglycerides
KOL Index score: 8681

Familial partial lipodystrophy, Dunnigan variety (FPLD) is a well-recognized autosomal dominant disorder due to heterozygous missense mutations in lamin A/C (LMNA) gene. Most of the FPLD patients harbor mutations in the C-terminal of the lamin A/C and do not develop cardiomyopathy. On the other hand, affected subjects from three FPLD pedigrees with heterozygous R28W, R60G and R62G LMNA mutations in the amino-terminal had associated cardiomyopathy presenting as premature onset of ...

Also Ranks for: Dunnigan Variety |  familial partial lipodystrophy |  fpld patients |  lmna mutations |  heterozygous missense
KOL Index score: 7749

Mandibuloacral dysplasia (MAD) is a phenotypically heterogeneous, rare autosomal recessive disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of cranial sutures, joint contractures, and mottled cutaneous pigmentation. Patients with MAD develop two patterns of lipodystrophy: type A pattern, with loss of sc fat from the extremities and normal or slight excess in the neck and truncal regions; and type B pattern, with a more generalized loss of sc ...

Also Ranks for: Patients Mad |  type lipodystrophy |  mandibuloacral dysplasia |  lamin gene |  mutation lmna
KOL Index score: 7570

OBJECTIVE: To investigate whether leptin-induced improvements in glycemic control, hyperlipidemia, and insulin sensitivity in hypoleptinemic patients with generalized lipodystrophies are accompanied by reduction in intrahepatic and intramyocellular lipid (IMCL) accumulation.

RESEARCH DESIGN AND METHODS: We examined the effects 8-10 months of subcutaneous leptin replacement therapy on insulin sensitivity, IMCL, and intrahepatic lipid content in two patients with acquired generalized ...

Also Ranks for: Generalized Lipodystrophy |  leptin replacement |  insulin sensitivity |  imcl content |  glycemic control
KOL Index score: 7284

Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by extreme paucity of adipose tissue from birth, and early onset of metabolic complications related to insulin resistance. Mutations in three genes, 1-acylglycerol 3-phosphate-O-acyltransferase 2 (AGPAT2), Berardinelli Seip Congenital Lipodystrophy 2 (BSCL2), and Caveolin-1 (CAV1) are associated with the three subtypes of this disorder, CGL1, CGL2 and CGL3, respectively. We report two siblings ...

Also Ranks for: Congenital Generalized |  patients cgl |  insulin resistance |  agpat2 bscl2 |  body fat

Key People For Generalized Lipodystrophy

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Vinaya Simha:Expert Impact

Concepts for whichVinaya Simhahas direct influence:Generalized lipodystrophy,  Insulin sensitivity,  Familial partial lipodystrophy,  Hdl cholesterol,  Leptin replacement,  Dunnigan variety,  Mandibular hypoplasia,  Metreleptin treatment.

Vinaya Simha:KOL impact

Concepts related to the work of other authors for whichfor which Vinaya Simha has influence:Insulin resistance,  Adipose tissue,  Bariatric surgery,  Metabolic syndrome,  Weight loss,  Generalized lipodystrophy,  Type 2 diabetes.



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Associate Professor, Division of Endocrinology, Diabetes, Metabolism and nutrition, Mayo Clinic, Rochester, MN, USA | Division of Endocrinology, Mayo Clinic, Rochester, MN 55905, USA | Division of Endocrinology, Mayo Clinic, Rochester, MN, USA | Divi