50 research outputs found
An 11-Year-Old Child with Autosomal Dominant Polycystic Kidney Disease Who Presented with Nephrolithiasis
Patients with autosomal dominant polycystic kidney disease become symptomatic and are diagnosed usually at adulthood. The rate of nephrolithiasis in these patients is 5–10 times the rate in the general population, and both anatomic and metabolic abnormalities play role in the formation of renal stones. However, nephrolithiasis is rare in childhood age group. In this paper, an 11-year-old child with autosomal dominant polycystic kidney disease presenting with nephrolithiasis is discussed
Case of cystic fibrosis diagnosed in adolescence
Kistik fibrozis beyaz ırkta en sık görülen otozomal resesif geçişli kalıtsal hastalıktır. "Kistik fibrozis transmembran düzenleyen protein" genindeki değişik mutasyonlar sonucunda hafiften ağıra çeşitli klinik tablolara yol açabilir. Kistik fibrozisli hastalarda akciğer komplikasyonları esas morbidite ve mortalite nedenidir. On yedi yaşında kız hasta öksürük ve balgam çıkarma şikayeti ile polikliniğimize başvurdu. Öyküsü, fizik muayenesi, klinik ve radyolojik bulguları kistik fibrozisi destekler nitelikteydi. İlk ter testi normal gelmişti, tekrarlanan ter testleri yüksek saptandı. Kistik fibroz gen analizi pozitif bulundu. Olguya nebülize alfa-dornaz ve tobramisin tedavileri başlandı, fizik tedavi önerileri anlatıldı ve izleme alındı. Olgu bronşektazili hastalarda kistik fibrozisin akılda tutulması, semptomların geç yaşta başlayabileceği ve ter testinin normal olmasının tanıyı ekarte ettiremeyeceğini vurgulamak amacıyla sunulmuştur. Cystic fibrosis is the most common autosomal recessive hereditary disease in white populations. "Cystic fibrosis transmembrane regulating protein" gene as a result of different mutations can cause mild to severe range of clinical manifestation. The main cause of morbidity and mortality in patients with cystic fibrosis lung complications. Seventeen-year-old girl was admitted to our clinic with complaints of cough and sputum production. History, physical examination, clinical and radiologic findings supported our cystic fibrosis. The first sweat test was normal, repeated sweat tests were higher. Cystic fibrosis gene analysis were positive. The patient was nebulised alpha-Dornase and tobramycin treatments, physical therapy and monitoring were discussed suggestions. A case of cystic fibrosis patients with bronchiectasis keep in mind, symptoms begin in old age and being a normal sweat test are presented in order to emphasize rule out the diagnosis
Evaluation of two cases with round pneumonia
Round pnömoni, akciğer grafisinde yuvarlak konsolidasyon şeklinde sıklıkla çocuklarda görülen bir pnömonidir. Radyolojik olarak pulmoner kitle ile karışması nedeni ile önem teşkil etmektedir. Klinik ve laboratuar bulguları round pnomoni ile uyumlu olan çocuklarda ayırıcı tanı için ileri tetkik edilmeden önce antibiyotik tedavisi sonrası klinik ve radyolojik bulguların tekrar değerlendirilmesi gerekmektedir. Bu sunumda öksürük ve ateş yüksekliği ile başvuran, akciğer grafisinde yuvarlak konsolidasyon saptanan ve tedavi ile kliniği gerileyen iki olgu sunulmuştur. Round pneumonia is a manifestation of pneumonia which seen particular to childhood and it appears as a rounded consolidation on chest x-ray. Radiologically, it is important because of interference with the pulmonary mass. Children whose clinical and laboratory findings are compatible with round pneumonia should be eveluated again after antibiotic treatment before further evaluation for differantial diagnosis. We presented two cases who admitted with cough, fever and round consolidation on chest x-ray and whose clinical and radiological findings regressed after treatment
KARTAGENER SYNDROME
Kartagener sendromu otozomal resesif geçişli sinüzit, bronşektazi, situs inversus ile karakterize ender görülen bir hastalıktır. Bu makalede, kliniğimizde Kartagener sendromu tanısı ile izlediğimiz iki olgunun klinik ve radyolojik bulguları verilmiştir. Olgular kronik rinosinüzit ve bronşektazisi olan çocuklarda Kartagener sendromunun olası bir tanı olarak akılda tutulması gerekliliğini vurgulamak amacıyla takdim edilmiştir. The Kartagener syndrome is a rare autosomal recessive disorder characterized by bronchiectasis, sinusitis, sinus inversus. Clinical and radiological features of two cases followed in our clinic are given in this article. These cases are presented to emphasize that Kartagener syndrome should be considered as a possible diagnosis in children with chronic rhinosinusitis and bronchiectasis
SOTOS SYNDROME: A RARE CAUSE OF TALL STATURE
Sotos sendromu, endokrin bir bozukluk olmaksızın hızlı büyümeyle karakterize birhastalıktır. Ondört yaşında kız hasta boy uzunluğu şikayeti nedeniyle başvurdu. Doğumdave postnatal izlemlerinde boyunun yaşıtlarına göre üst sınırlarda olduğuöğrenilen hastanın klinik incelemelerinde mental retardasyon, makrosefali ve üstsınırda boy persentili saptandı. Bu bulgularla olguya sotos sendromu tanısı konuldu.Bu olgu sunumumuzda aşırı boy uzaması yakınması ile başvuran ve fizik muayenesindedismorfik bulgular saptanan hastaların ayırıcı tanısında sotos sendromunununda düşünülmesinin vurgulanması istenildi.Sotos syndrome is a disorder which is characterized by rapid growth without anyendocrine defect. A 14-year-old female patient was admitted with a complaint of tallstature. Her history revealed that her height was at the upper limits compared to herpeers at the time of birth and during the postnatal follow-ups. Clinical examinationsshowed mental retardation, macrocephaly, and a height percentile at the upper limit.Sotos syndrome was diagnosed with these clinic findings. In this case report, we aimedto stress the necessity of considering the rarely seen Sotos syndrome when making thedifferential diagnosis of patients who apply with the complaint of excessive growth anddemonstrate dismorphic findings at the physical examination
VASCULAR RING AS A CAUSE OF RESPIRATORY DISTRESS
Vasküler ring tiplerinden biri olan aortik ark anomalileri süt çocukluğu döneminde tekrarlayan akciğer enfeksiyonları, devamlı hışıltı, stridor gibi solunumsal semptomların önemli bir sebebidir. Bu semptomlar, anatomik basıya ikincil olarak gelişen havayolu obstrüksiyonunun derecesi ile ilişkilidir. Havayolu obstrüksiyonu belirgin ise yakınmalar erken yaşta ve ağır olarak ortaya çıkar. Semptomlar hafif ve anatomik bası belirgin değil ise hastalık yaşamın daha geç döneminde tanınabilir. Burada astım bulguları ile başvuran, radyolojik değerlendirmeler ile vasküler ring tanısı alan 10 yaşında bir kız olgu sunulmuştur. Aortic arch anomalies such as vascular ring are important causes of respiratory symptoms including recurrent pulmonary infections, persistant wheezing and stridor in infancy. These symptoms are related with the severity of airway obstruction which is secondary to the anatomic impression. The symptoms begin at early age and severely if the airway obstruction is evident. The disease can be diagnosed in the later years of life if the symptoms are mild and the anatomic impression is not severe. Here; we reported a ten year old girl who admitted with symptoms of asthma and was diagnosed as vascular ring with radiological investigations
Effects of Imipenem, Tobramycin and Curcumin on Biofilm Formation of Pseudomonas aeruginosa Strains
Aminoglycoside antibiotics and imipenem are reported to stimulate exopolysaccharide alginate production and cause an increased biofilm volume in Pseudomonas aeruginosa. Recently, some remarkable studies have been conducted on the effects of curcumin (Turmeric), which is the fenolic form of Curcuma longa plant, on virulence factors of P.aeruginosa. In this study, we aimed to investigate the effects of MIC and sub-MIC concentrations of imipenem, tobramycin, and curcumin on biofilm formation of P.aeruginosa strains. P.aeruginosa strains (n= 2) used in this study were isolated from deep oropharyngeal swab samples of two cystic fibrosis patients. Antimicrobial susceptibilities of the two strains to imipenem, tobramycin, and curcumin were investigated by broth microdilution method, and biofilm production was assessed by using crystal violet staining method. In our study, MIC values of imipenem, tobramycin and curcumin for strain-1 were 8 mu g/ml, 8 mu g/ml and 16 mu g/ml, respectively, while those values were 4 mu g/ml, 8 mu g/ml and 16 mu g/ml for strain-2. Biofilm optical density values of the strain-1 and strain-2 before being treated with the test substances were 0.937 and 0.313 (control: 0.090), respectively, Biofilm optical densities of the both strains showed an increase following treatment with MIC concentrations of imipenem and tobramycin. The treatment of the strains with MIC and sub-MIC concentrations of curcumin led to no significant increase in biofilm optical density. The data obtained in this study supported the promising inhibitory effect of curcumin on P.aeruginosa biofilms. However, further more comprehensive studies are required to provide satisfactory data about the use of curcumin to treat P.aeruginosa infections characterized by biofilm formation