Publications by authors named "Elif Oral"

Article Synopsis
  • A novel genetic cause of partial lipodystrophy has been identified, linked to a nonsense variant in the early B cell factor 2 gene (p.E165X).
  • The patient exhibited progressive loss of fat tissue and worsening metabolic health from a young age, indicating an atypical presentation of the condition.
  • Laboratory studies show that this genetic variant hinders fat cell development, resulting in an increase of undeveloped cells and inflammation in fat tissues, which disrupts normal tissue function and structure.
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Background: We aimed to evaluate the effects of 6 weeks of agomelatine versus fluoxetine treatment on cognition and sleep.

Methods: Agomelatine 25 mg/day and fluoxetine 20 mg/day were administered to major depressive disorder (MDD) patients. Assessments were conducted before the treatment and at the sixth week of treatment via psychometric measures and comprehensive neurocognitive assessments of various functions, including executive skills, attention, memory, verbal fluency, and speed of processing.

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Objective: Glucagon-like peptide 1 receptor agonists (GLP-1RA) are widely used for the management of diabetes mellitus (DM), but their efficacy in familial partial lipodystrophy (FPLD) is unknown. In this retrospective study, we evaluated the effect of GLP-1RA in patients with FPLD.

Research Design And Methods: We analyzed data, reported with SDs, from 14 patients with FPLD (aged 58 ± 12 years; 76.

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Morbidity and mortality rates in patients with autosomal recessive, congenital generalized lipodystrophy type 4 (CGL4), an ultra-rare disorder, remain unclear. We report on 30 females and 16 males from 10 countries with biallelic null variants in CAVIN1 gene (mean age, 12 years; range, 2 months to 41 years). Hypertriglyceridemia was seen in 79% (34/43), hepatic steatosis in 82% (27/33) but diabetes mellitus in only 21% (8/44).

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Deficiency in the adipose-derived hormone leptin or leptin receptor signaling causes class 3 obesity in individuals with genetic loss-of-function mutations in leptin or its receptor LEPR and metabolic and liver disease in individuals with hypoleptinemia secondary to lipoatrophy such as in individuals with generalized lipodystrophy. Therapies that restore leptin-LEPR signaling may resolve these metabolic sequelae. We developed a fully human monoclonal antibody (mAb), REGN4461 (mibavademab), that activates the human LEPR in the absence or presence of leptin.

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Theory of mind skills are disrupted in schizophrenia. However, various theory of mind tasks measure different neurocognitive domains. This multimodal neuroimaging study aimed to investigate the neuroanatomical correlates of mental state decoding and reasoning components of theory of mind in schizophrenia and healthy controls (HCs) using T1-weighted and diffusion-weighted (DTI) magnetic resonance imaging (MRI).

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There is no strong evidence that any specific diet is the preferred treatment for lipodystrophy syndromes. Here we remark on the benefits of a very-low-calorie diet (VLCD) in a patient with familial partial lipodystrophy type 2 (FPLD2). A 38-year-old female diagnosed with FPLD2, with a history of multiple comorbidities, underwent 16 weeks of VLCD with a short-term goal of improving her metabolic state rapidly to achieve pregnancy by in vitro fertilization (IVF).

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Article Synopsis
  • The study investigates how preexisting Non-Alcoholic Fatty Liver Disease (NAFLD) affects weight loss outcomes after bariatric surgery over a period of up to 5 years.
  • Based on data from the Michigan Bariatric Surgery Cohort, it was found that patients with preexisting NAFLD experienced significantly lower weight loss compared to those without it.
  • The research highlights the need for ongoing monitoring of NAFLD in patients post-surgery, as it may persist or recur in some individuals.
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Article Synopsis
  • Lipodystrophy syndromes involve the loss of adipose tissue and result from genetic or acquired causes, with LMNA-related cases classified by severity.
  • The study analyzed 494 patients from the researchers' cases and published studies to identify clinical features and genotype-phenotype relationships.
  • Findings highlighted common variants linked to metabolic issues, with early diabetes and dyslipidemia as notable concerns, emphasizing their connection to acute pancreatitis risks among affected individuals.
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Objective: For patients with obesity and diabetes, bariatric surgery can lead to the remission of both diseases. However, the possible impact of diabetes on the magnitude of weight loss outcomes after bariatric surgery has not been precisely quantified.

Research Design And Methods: Data from Michigan Bariatric Surgery Cohort (MI-BASiC) was extracted to examine the effect of baseline diabetes on weight loss outcomes.

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Schizophrenia has long been thought to be a disconnection syndrome and several previous studies have reported widespread abnormalities in white matter tracts in individuals with schizophrenia. Furthermore, reductions in structural connectivity may also impair communication between anatomically unconnected pairs of brain regions, potentially impacting global signal traffic in the brain. Therefore, we used different communication models to examine direct and indirect structural connections (polysynaptic) communication in large-scale brain networks in schizophrenia.

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Context: Homozygous leptin (LEP) and leptin receptor (LEPR) variants lead to childhood-onset obesity.

Objective: To present new cases with LEP and LEPR deficiency, report the long-term follow-up of previously described patients, and to define, based on all reported cases in literature, genotype-phenotype relationships.

Methods: Our cohort included 18 patients (LEP = 11, LEPR = 7), 8 of whom had been previously reported.

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Context: The diagnosis of familial partial lipodystrophy (FPLD) is currently made based on clinical judgment.

Objective: There is a need for objective diagnostic tools that can diagnose FPLD accurately.

Methods: We have developed a new method that uses measurements from pelvic magnetic resonance imaging (MRI) at the pubis level.

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Background And Aims: While health workers were affected by the COVID-19 pandemic on an individual and professional basis, their families and especially their children were directly or indirectly exposed to similar factors. This study aims to compare the emotion regulation competencies of school-age children of healthcare workers in Turkey, before and during the COVID-19 pandemic and to investigate their emotion regulation competencies during the pandemic in terms of care conditions, daily life activities and overall health.

Methods: This study used the purposeful sampling technique and was designed as a cross-sectional and relational survey study.

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Background: Volanesorsen, an antisense oligonucleotide, is designed to inhibit hepatic apolipoprotein C-III synthesis and reduce plasma apolipoprotein C-III and triglyceride concentrations.

Objective: The present study assessed efficacy and safety of volanesorsen in patients with familial partial lipodystrophy (FPLD) and concomitant hypertriglyceridemia and diabetes.

Methods: BROADEN was a randomized, placebo-controlled, phase 2/3, 52-week study with open-label extension and post-treatment follow-up periods.

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Context: Weight loss after bariatric surgery can be accurately predicted using an outcomes calculator; however, outliers exist that do not meet the 1 year post-surgery weight projections.

Objective: Our goal was to determine how soon after surgery these outliers can be identified.

Design: We conducted a retrospective cohort study.

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Lipodystrophy syndromes are rare diseases with defects in the development or maintenance of adipose tissue, frequently leading to severe metabolic complications. They may be genetic or acquired, with variable clinical forms, and are largely underdiagnosed. The European Consortium of Lipodystrophies, ECLip, is a fully functional non-profit network of European centers of excellence working in the field of lipodystrophies.

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Acquired lipodystrophy is often characterized as an idiopathic subtype of lipodystrophy. Despite suspicion of an immune-mediated pathology, biomarkers such as autoantibodies are generally lacking. Here, we used an unbiased proteome-wide screening approach to identify autoantibodies to the adipocyte-specific lipid droplet protein perilipin 1 (PLIN1) in a murine model of autoimmune polyendocrine syndrome type 1 (APS1).

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Negative symptoms, including avolition, anhedonia, asociality, blunted affect and alogia are associated with poor long-term outcome and functioning. However, treatment options for negative symptoms are limited and neurobiological mechanisms underlying negative symptoms in schizophrenia are still poorly understood. Diffusion-weighted magnetic resonance imaging scans were acquired from 64 patients diagnosed with schizophrenia and 35 controls.

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Background: Recombinant leptin therapy reverses nonalcoholic steatohepatitis (NASH) in leptin-deficient lipodystrophy. We inquired if leptin therapy would improve nonalcoholic steatohepatitis in more common forms of this heterogeneous condition.

Methods: Nine male patients with relative leptin deficiency (level < 25th percentile of body mass index- and gender-matched United States population) and biopsy-proven NASH and 23 patients with partial lipodystrophy and NASH were recruited for two distinctive open-label trials.

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