Publications by authors named "F Akalin"

Article Synopsis
  • Carvajal syndrome is a rare genetic condition that affects the heart and skin, caused by a mutation in the desmoplakin gene, leading to symptoms like woolly hair, skin issues, and heart problems.
  • A case was presented involving a seven-year-old girl who experienced severe heart failure and dilated cardiomyopathy, alongside notable dermatological symptoms, prompting genetic testing.
  • The diagnosis of Carvajal syndrome was confirmed through genetic evaluation, highlighting the importance of recognizing skin manifestations and genetic screening to aid in diagnosis and prevent fatal outcomes.
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Objective: We aimed to study myocardial functions of infants appropriate and large for gestational age (IDM-AGA, IDM-LGA) of diabetic mothers (IDM) and AGA and LGA infants of non-diabetic mothers comparatively.

Methods: Newborns were assessed between 24 and 72 h. M-Mode, pulsed wave, and tissue Doppler echocardiography were performed.

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Objectives: TANGO2 deficiency is a rare inborn error of metabolism, with distinct clinical features. The clinical presentations of TANGO2 deficiency are developmental delay, speech difficulties, intellectual disability, non-life-threatening paroxysmal neurologic episodes (TANGO2 spells), acute metabolic crises, cardiac crises, seizures and hypothyroidism. Patients may die in acute metabolic crises.

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Objectives: Salivary statherin and alpha-amylase play significant roles in biofilm formation and pathogenic bacteria adhesion. Examination of these proteins may provide information on their roles in periodontal diseases. The present study was based on the hypothesis that; the salivary proteins -statherin and alpha-amylase- effective on biofilm formation, may play important roles in the etiology of periodontal disease.

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Mitral regurgitation can result from congenital heart disease, rheumatic valve disease, or other congenital malformations of the mitral valve. Faulty valves require surgical repair or replacement. However, echocardiographic and biochemical parameters that inform surgical decision-making for adults may not be appropriate for children.

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