Ozge Ozkaya, MSc, PhD

Dr.
Özge’s background is in research; she holds a MSc. in Molecular Genetics from the University of Leicester and a PhD. in Developmental Biology from the University of London. Özge worked as a bench scientist for six years in the field of neuroscience before embarking on a career in science communication. She worked as the research communication officer at MDUK, a UK-based charity that supports people living with muscle-wasting conditions, and then a research columnist and the managing editor of resource pages at BioNews Services before joining Rare Disease Advisor.

All articles by Ozge Ozkaya, MSc, PhD

Patients With IPF and GERD Showed Higher Risk for Poor Outcomes

There is an association between idiopathic pulmonary fibrosis (IPF) and gastroesophageal reflux disease (GERD), according to results published in Chest. The study is being presented virtually at the Chest 2021 Annual Meeting on Oct. 17-20, 2021. The association between IPF and GERD was already known possibly due to chronic micro-aspiration leading to lung parenchyma remodeling.…

Importance of AATD Patients Recognizing Exacerbations in Pulmonary Symptoms

Changes in usual lung symptoms are not universally recognized as exacerbations, according to a new study published in the journal Chest and being presented at the Chest 2021 Annual Meeting. The correlation between symptom-based exacerbation and the definition of an exacerbation based on health care utilization is not high.  Identifying pulmonary exacerbations in patients with…

Rare Pancreatic Tumors Could Be a Comorbidity in Patients With PAH

Intraductal papillary mucinous neoplasms (IPMNs) could increasingly be seen as a comorbidity in patients with pulmonary arterial hypertension (PAH), especially as their life expectancy increases. This is according to a new case study published in the Chest journal and being presented at the Chest 2021 Annual Meeting. More research is needed to see whether the…

Case Report: Pulmonary Arterial Hypertension Due to Vitamin C Deficiency

Severe vitamin C deficiency is a rare cause of pulmonary arterial hypertension (PAH) that is easily treatable, according to a case study by Shrey Shah and colleagues published in Chest and being presented at the Chest 2021 Annual Meeting. It should, therefore, be considered in the appropriate clinical setting. The researchers presented the case of…

Researchers Identify New Source of Intrahepatic Duct Cells

Intrahepatic duct cells regenerate from multipotent progenitors that originate from stem cells just outside the liver, according to a new study published in the journal Hepatology. This finding could help researchers develop new treatments for Alagille syndrome, a disease caused by impaired Notch signaling. “We’ve been aware of the regenerative power of the liver for…

Ultra-Widefield and Anterior-Segment OCT Useful in Alagille Syndrome

Ultra-widefield and anterior-segment optical coherence tomography (AS-OCT) imaging are both useful in assessing the ocular abnormalities in Alagille syndrome, according to a new case study published in the American Journal of Ophthalmology Case Reports. “The ocular abnormalities observed in the present case represent clinical features characteristic of Alagille syndrome,” wrote first author Nobuhiro Kato from…

Lysosomal Acid Lipase Deficiency Testing

Genetic Testing Important for Symptomatic LCFAOD Patients of All Ages

Adolescents and adults with very long-chain acyl-coenzyme A dehydrogenase (VLCAD) and carnitine palmitoyltransferase II (CPT II) deficiencies report clinical signs that overlap with neuromuscular disorders. Next-generation sequencing analysis using a panel of 35 genes associated with long-chain fatty acid oxidation disorder (LCFAOD) or other conditions that cause abnormal plasma acylcarnitine profiles allowed the identification of…

intrathecal-drug-delivery

Subcutaneous Intrathecal Catheter Administration of Nusinersen in SMA Examined

Subcutaneous intrathecal catheters allow for the reliable outpatient administration of nusinersen in patients with spinal muscular atrophy (SMA), according to a new study published in Muscle & Nerve. This ultimately results in meaningful improvements in arm function. However, it creates the risk of technical malfunction and iatrogenic infection. Nusinersen, which is commercialized by Biogen as…

Using an Acylcarnitine Ratio May Improve LCFAOD Diagnosis

The (C16+C18:1)/C2 acylcarnitine ratio in dried blood spots is more specific than long-chain acylcarnitine (C16 and C18:1) alone in diagnosing carnitine-acylcarnitine translocase (CACT) and carnitine palmitoyltransferase 2 (CPT 2) deficiencies, according to a new study published in the journal Clinical Biochemistry. CACT and CPT 2 are 2 types of long-chain fatty acid oxidative disorders (LCFAOD).…

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