Biomedical subjects
Mustafa Akcakus
Publications and source records attributed to Mustafa Akcakus.
Arrhythmogenic right ventricular cardiomyopathy (Naxos disease): report of a Turkish boy.
Naxos disease is a recessively inherited arrhythmogenic right ventricular cardiomyopathy in which the cardiac phenotype is associated with palmoplantar keratoderma and woolly hair. This disease is a heart muscle disorder causing life-threatening ventricular arrhythmias, heart failure, and sudden cardiac death. The pathological hallmark of the disease is the progressive replacement of myocardial cells by fat and fibrous tissue. It appears in families descending from the Hellenic island of Naxos. We presented a 13-year-old Turkish boy with Naxos disease associated with ventricular tachycardia because of its rarity, and reviewed the literature.
Werdnig-Hoffmann disease with congenital hypothyroidism.
Congenital hypothyroidism is often associated with other congenital anomalies. In some instances it is difficult to differentiate congenital hypothyroidism from Werdnig-Hoffmann's disease. We report a case of congenital hypothyroidism associated with Werdnig-Hoffmann's disease that appears to be the first of its kind in the literature.
Congenital hypothyroidism associated with Rubinstein-Taybi syndrome.
Rubinstein-Taybi syndrome is a genetic syndrome characterized by broad thumbs and big toes, growth retardation, mental deficiency and dysmorphic facies. We report the association of Rubinstien-Taybi syndrome with congenital hypothyroidism.
Transient proteinuria in an infant born to a mother with HELLP syndrome.
UNLABELLED: The syndrome of haemolysis, elevated liver enzymes and low platelet count (HELLP syndrome) is a severe form of pre-eclampsia and eclampsia associated with poor maternal and neonatal outcome. We report here the case of an infant born to a mother with HELLP syndrome. The infant was initially diagnosed as having nephrotic syndrome but after a follow-up period of 25 days proteinuria and oedema had disappeared. CONCLUSION: to our knowledge, transient proteinuria with maternal HELLP syndrome has not been previously described in the literature.
TRMA syndrome (thiamine-responsive megaloblastic anemia): a case report and review of the literature.
Thiamine-responsive megaloblastic anemia syndrome (TRMA) is an autosomal recessive disorder with features that include megaloblastic anemia, mild thrombocytopenia and leukopenia, sensorineural deafness and diabetes mellitus. In this disease, the active thiamine uptake into cells is disturbed. Treatment with pharmacological doses of thiamine ameliorates the megaloblastic anemia and diabetes mellitus. Previous studies have demonstrated that the disease is caused by mutations in the SLC19A2 gene encoding a high-affinity thiamine transporter. We present a 5-yr-old-boy with TRMA and, because of its rarity, we review the literature.
Septic arthritis in patients followed-up in neonatal intensive care unit.
BACKGROUND: Septic arthritis is an uncommon, but serious disorder in neonates. Most patients survive with permanent handicaps. Due to the rarity of this condition in neonates and paucity of signs and symptoms, the diagnosis of septic arthritis in newborns is more difficult than in older children. METHODS: Septic arthritis or suppurative arthritis is an infection of the joint by a variety of microorganisms, including bacteria, viruses, mycobacteria and fungi. Purulent synovial fluid, positive culture and positive Gram stain were accepted as a gold standard for exact diagnosis. Fourteen neonates who were followed-up in a neonatal intensive care unit, with septic arthritis, were included in a study based on a review of medical reports and a long-term clinical and radiological follow-up. Clinical symptoms, bacteriology, risk factors and outcomes are discussed. RESULTS: Staphylococcus aureus was the predominant causative organism. Risk factors for septic arthritis were prematurity (4/14), umbilical catheterization or venous catheterization (3/14), sepsis (3/14), perinatal asphyxia (2/14) and difficult birth (1/14). All cases of septic arthritis in neonates were improved without squealae except in two patients. One patient died and one patient had severe squealae. In these two patients, the duration of disease from clinical onset to initiation of therapy was long. CONCLUSIONS: The most important prognostic factor in predicting a favorable outcome in neonatal septic arthritis is early diagnosis and therapy. When appropriate treatment is delayed, catastrophic sequelae are inevitable. Early diagnosis of the condition and rapid removal of pus are mandatory for the survival of the joint. Long-term follow-up may reveal effects of epiphyseal damage, early degenerative changes and limitation of the range of motion.
The effect of folic acid, vitamin B6 and vitamin B12 on the homocysteine levels in rabbits fed by methionine-enriched diets.
Atherosclerosis is an important cause of cardiovascular morbidity and mortality in recent years. Hyperhomocysteinemia is recognized as an independent risk factor for premature atherosclerosis and venous thrombosis. It is suggested that administration of folic acid, vitamin B6 and vitamin B12 may decrease homocysteine levels. In our study, we induced hyperhomocysteinemia in rabbits by giving methionine and studied the effects of folic acid, vitamin B6 and vitamin B12 on homocysteine levels. A total of 40 (20 female, 20 male New Zealand rabbits) were divided into four groups, each consisting of 10 rabbits. Methionine (100 mg/kg/day), methionine (100 mg/kg/day) plus vitamin B6 (30 mg/kg/day), methionine (100 mg/kg/day) plus vitamin B12 (80 mg/kg/day) and methionine (100 mg/kg/day) plus folic acid (20 mg/kg/day) were given to the first, second, third and forth groups respectively. These rabbits were followed up for two months. We studied homocysteine levels on the 0, 20th, 40th and 60th days in all groups. In rabbits we induced hyperhomocysteinemia by giving methionine for 2 months. The decreases of homocysteine levels in the forth group were significant with respect to the second and third groups. Folic acid supplementation clearly resulted in a reduction of plasma homocysteine levels, whereas vitamin B12 was little effective and vitamin B6 failed to show an effect. We conclude that even folic acid treatment alone may be sufficient for decreasing negative effects of homocysteine.
Congenital neuroblastoma with cutaneous metastases.
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Collodion baby associated with asymmetric crying facies: a case report.
Collodion baby is a distinct subset of neonatal erythroderma that can be a clinical marker for a variety of underlying abnormalities. The phenotype includes parchment-like hyperkeratosis, pseudocontractures, ectropion, eclabium, absence of eyebrows, and sparse hair. Asymmetric crying facies is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle. Associations of this facial defect with major congenital anomalies have been reported, most commonly in the cardiovascular system, less frequently involving the genitourinary, musculoskeletal, cervicofacial, and respiratory systems, and rarely the endocrine system. We report a newborn with a collodion membrane and asymmetric crying facies. To the best of our knowledge, this association has not been previously published.
Harlequin baby with ecthyma gangrenosum.
Pseudomonas aeruginosa bacteremia or sepsis often occurs in hospitals, affecting mainly children with underlying disease. Ecthyma gangrenosum is classically considered a pathognomonic sign of sepsis by P. aeruginosa. The harlequin baby, a severe variant of ichthyosis, occurs rarely, and these infants are at high risk of cutaneous infections and sepsis. We herein report a harlequin baby who developed ecthyma gangrenosum.