Pediatrik yaş grubunda kolesteatomların yüksek rezolüsyonlu bilgisayarlı tomografik incelemesi

TEZ2047Tez (Uzmanlık) -- Çukurova Üniversitesi, Adana, 1996.Kaynakça (s. 68-76) var.76 s. : rnk. res. ; 30 cm.

Ektrodaktili-Yarık el ve ayak malformasyonlu bir olgunun kromozom ve p63 gen mutasyon analizleri

Amaç: Yarık el- yarık ayak kusurlu oluşumu (SHFM), parmak oluşum merkezindeki duraksama sonucunda meydana gelir ve el ile ayaklarda medyan yarıklar, sindaktili ve diğer fenotipik anomaliler ile genellikle ilişkili bulunan falanj, metakarpus ve metatarsuslardaki aplazi veya hipoplazi olarak kendini göstermektedir. Bu çalışmada SHFM'li bir çocukta SHFM'in genetik mekanizmasının araştırılması amaçlandı. Materyal ve metot: Bu çalışmada, baş ve işaret parmağı arasında sindaktilisi olan yarık el ile sindaktilişi olan düz taban ayağa sahip olan 10 günlük bir erkek çocukta sitogenetik ve moleküler genetik analizler uygulandı. Bulgular: Hastamızda, 4ql2'de kırılma, 9ql 1-13 band bölgesin'de frajilite ve 9qh+ gibi çeşitli kromozomal yeniden düzenlenmeler saptandı. Sitogenetik bulgular literatür bulguları ile benzerlik gösterirken, p63'deki moleküler analiz ise herhangi bir mutasyonun olmadığını gösterdi. Sonuç: Hastamızın fenotipi muhtemelen, p63 geninin değişken ekspresivitesi ve penetransı nedeniyle ve diğer genetik faktörler veya SHFM genindeki diğer dört bölgede lokalize olan mutasyonlar nedeniyle oluşmuş olabilir. Non-sendromik yarık damağa yatkınlık oluşturan diğer minor modifiye edici genler de EEC sendromunun yarık damak oluşumuna katkıda bulunabilir.Aim: Split hand-split foot malformation (SHFM) results from central ray reduction and presents as median clefts of the hands and feet, syndactyly, aplasia or hypoplasia of the phalanges, metacarpals and metatarsals, which are frequently associated with other phenotypic abnormalities. We aimed to investigate the genetic pathway of SHFM in a child. Materials and methods: Cytogenetic and molecular genetic analysis was performed in a 10-day-old boy with split-syndactyly hand and flat-syndactyly foot. Results: We found a complex chromosomal rearrangement including breaks in 4ql2, fragility in the 9ql 1-13 band region and 9qh+. Cytogenetic results agree with the literature findings. The mutation analysis of the p63 gene revealed no mutation. Conclusion: The phenotype of our patient may be due to variable expressivity and penetrance of the p63 gene and to other genetic factors, or the mutation can be located in the other 4 loci for SHFM. Additional minor modifying genes, which predispose to non-syndromic cleft palate, could also contribute to the expression of the cleft palate component of the EEC syndrome

Pediatric Parapharyngeal Castleman's Disease: a Case Report

WOS: 000295492900021Castleman's disease is a rare lymphoproliferative disorder of unknown aetiology. It has two clinical expressions. The localized form, which usually presents as a slow growing mass and the multicentric form, where tumoural involvement is multilocated. Mediastinal involvement is the most common location of presentation. Parapharyngeal involvement is very rare and, to our knowledge, five pediatric parapharyngeal Cattleman's disease have been reported. We describe the case of a 14-year-old female child who was diagnosed as having parapharyngeal Cattleman's disease

Type 2 diabetes mellitus and osteopenia: Is there an association?

PubMedID: 12861410We report the results of bone mineral density (BMD) measurements in type 2 diabetic patients, in comparison to healthy controls. In this prospective study, a total of 277 subjects (aged 30-60 years) with type 2 diabetes mellitus, outpatients at the Cukurova Medical School Hospital, were evaluated for BMD at L1-L4 lumbar vertebrae and at the femur (neck, trochanter, Ward's triangle and total) by DEXA (dual energy X-ray absorptiometry). The patients' diabetes duration, treatment, glycemic control and chronic diabetic complications were recorded, and these data were evaluated for any relationship in respect to the BMD measurements. BMD results of the diabetic patients were compared with those of 262 healthy non-diabetic control subjects living in the same geographic region. BMD was found to be increased at the femoral neck among diabetic women and men aged 51-60 years. However, BMD values at lumbar regions of diabetic men where lower than control in all age group. There was no difference in values of BMD for both genders in the other regions. Type 2 diabetic patients may have lower, similar or higher BMD measurements at different ages and anatomic regions, so each patient should be evaluated individually. Further studies are needed to make a conclusion on this issue

Cystic nephroma: Report of two pediatric cases

Cystic nephroma(CN) is an uncommon benign renal neoplasm that is characterised as a well circumscribed encapsulated mass that contains multiple noncommunicating fluid-filled locules. Microscopically, the locules are lined by epitelium and separated by a distinct $stroma^{1}$. Since its first discription in 1892 by Edmunds, there have been a little over 100 cases $reported^{1-3}$. Here, we report two pediatric cases, one male, one female with unilateral CN's.Cystic nephroma(CN) is an uncommon benign renal neoplasm that is characterised as a well circumscribed encapsulated mass that contains multiple noncommunicating fluid-filled locules. Microscopically, the locules are lined by epitelium and separated by a distinct $stroma^{1}$. Since its first discription in 1892 by Edmunds, there have been a little over 100 cases $reported^{1-3}$. Here, we report two pediatric cases, one male, one female with unilateral CN's

Clinical, laboratory and radiological evaluation of the patients with mucopolysaccharidosis

AMAÇ: Bu çalışma, 1983-1997 yılları arasında Çukurova Üniversitesi Tıp Fakültesi Pediatrik Endokrinoloji ve Metabolizma Bilim Dalında izlenen 15'i erkek, 5'i kız, yaşları 12-204 aylar arasında (ortalama= 98.1 ± 56.4 ay) değişen 20 mukopoiisakkaridozlu hastanın klinik, laboratuvar, radyolojik yönden değerlendirilmesi amacıyla yapıldı. YÖNTEM: Hastaların tanısı mukopolisakkaridozun tipik klinik bulgularının bulunması sella spot grafisi, PA akciğer grafisi, yan forakolomber grafi ve el bilek grafisinde mukopolisakkaridozlara özgü radyolojik bulguların olması,idrarda heksuronik asit ölçülmesi ve heparan sülfat, dermatan -sülfat oranlarının kolon kromatografisi ile saptanması ile konuldu. SONUÇLAR: Hastaların -%90'ında mukopolisakkaridozlara özgü yüz görünümü, %75'inde tipik yürüyüş, %30'unda hepatosplenomegali, %30'unda hepatomegali, %55'inde inguinal herni, %50'sinde umblikal herni, %50'sinde makroglossi, %40'ında pençe el, %40'ında eklem kısıtlılığı saptandı. Hastaların %36'sında sella spot grafisinde, %63.2'sinde PA akciğer grafisinde, %47.4'ünde yan torakolomber grafide, %63.2'sinde el bilek grafisinde mukopolisakkaridozlara özgü bulgular gözlendi. Vakaların %90'ında heksuronik asit düzeyleri yüksek bulundu. YORUM: Klinik, radyolojik ve laboratuvar bulguları MPS ile uyumlu vakalara, yurdumuzda enzim ve moleküler tanı imkanlarının sağlanması; erken tanı, komplikasyonların önlenmesi, genetik danışma, prenatal tanı, kemik iliği transplantasyonu ve gen tedavisi açısından önem kazanmaktadır.PURPOSE: This study was undertaken to evaluate clinical, laboratory, and radiological findings of the twenty patients with mucopolysaccharidosis who have been followed in our clinic. The mean age of the patients was 98.1 ± 56.4 months (range: 12-204 months). Five'of the patients were girls and the remaining were boys. METHODS: Diagnosis was made certain by the laboratory, clinical and radiological findings typical for mucopolysaccharidosis. RESULTS: Clinical findings with percentages in parenthesis as follows: coarse facies (90%), typical gait (30%), hepatosplenomegaly (30%), inguinal hernia (55%), umbilical hernia (50%), macroglossia (50%), claw-hand deformity (40%), and stiff joints (40%). Characteristic radiological findings were present in the sella spot (36%), anterior-posterior chest (63.2%), lateral thoracolumbar (47%), and hand-wrist (63.2%) X-ray graphs. Serum Hexuronic ascit levels were increased in 90% of patients. CONCLUSION: Diagnosis of these cases were based on clinical, laboratory and radiological findings. Availability of enzymatic and molecular diagnosis in our country would enable earlier diagnosis with timely preventative measures against expected complications, prenatal diagnosis and genetic counseling and an option for newer treatment modalities such as bone marrow transplantation or gene theraphy at younger ages

Yüksek doz lipozomal amfoterisin B ile kür sağlanan çocukluk çağı invaziv mukormikozis

Pulmoner mukormikozis medikal tedavisinin temel dayanağı amfoterisin B olup, optimal doz konusunda henüz bir fikir birliği bulunmamaktadır. Bu yazıda pulmoner mukormikozis gelişen akut lenfblastik lösemili bir olgunun 45 haftalık sürede toplam 42.55 g lipozomal amfoterisin B kullanılarak başarıyla tedavi edildiği sunulmaktadır. Tıbbi literatüre bakıldığında bu olgu çocukluk çağında en yüksek dozda lipozomal amfoterisin B’nin başarıyla kullanıldığı ilk olgudurAmphotericin B remains the mainstay medical treatment of pulmonary mucormycosis. Optimal dose is not defined. We described a case of pulmonary mucormycosis, which had been treated with 42.55 g (during to 45 weeks) liposomal amphotericin B. In medical literature this case is one of the highest doses of lyposomal amphotericin B administered to a pediatric patient

Breast metastasis of rhabdomyosarcoma: A case report

Metastasis to the breast in the pediatric age group is extremely rare. After leukemia and lymphoma, rhabdomyosarcoma and neuroblastoma are the most common tumors to metastasize to the breast in this age group. Without a known primary, the diagnosis can be a challange. Here, a pediatric patient with widespread metastases to both breasts from embryonal rhabdomyosarcoma imaged by ultrasound and magnetic resonance is presented.Metastasis to the breast in the pediatric age group is extremely rare. After leukemia and lymphoma, rhabdomyosarcoma and neuroblastoma are the most common tumors to metastasize to the breast in this age group. Without a known primary, the diagnosis can be a challange. Here, a pediatric patient with widespread metastases to both breasts from embryonal rhabdomyosarcoma imaged by ultrasound and magnetic resonance is presented

Prune-belly syndrome: A case report

Prune-belly (Eagle-Barret) sendromu, abdominal kas yokluğu, inmemiş testis ve üriner sistem anomalileri ile birlikte seyreden ve nadir görülen bir sendromdur. Burada yenidoğan yoğun bakım ünitemizde izlenen kriptorşidizm, hidroüreteronefroz ve atriyoventriküler septal defekti olan bir prune-belly sendromu olgusu sunulmuş ve literatür gözden geçirilerek etiyoloji ve tedavisi tartışılmıştır.Prune-belly (Eagle-Barret) syndrome is a rare condition with deficiency of abdominal musculature, cryptorchidism and urinary tract anomalies. We presented a prune-belly case with cryptorchidism, hydroureteronephrosis and atrioventricular septal defect and reviewed the literature about the etiology and treatment

Akut solunum sıkıntısı sendromlu kanser ve diğer yoğun bakım hastalarında akciğer grafilerinin yorumlanması

Akut solunum sıkıntısı sendromu pulmoner venöz basınç artmaksızın pulmoner ödem bulgularına sahip klinik, patofizyolojik ve radyolojik paterni olan bir durumdur. Kritik hastalarda akut solunum sıkıntısı sendromunun klinik sunumu ve gidişi sıklıkla taşınabilir akciğer grafi istenerek takip edilir. Biz 10 kanser ve diğer 6 yoğun bakım çocuk hastalarının akciğer grafilerini inceledik. Araştırmamızda altta yatan patofizyolojik farklılıklara rağmen, kanser hastalarında akciğerin parankimal görüntülemesi diğer kritik hastalarınki ile aynı olarak rapor edildi.Acute respiratory distress syndrome is a clinical, pathophysiological and radiographic pattern that has signs of pulmonary edema occur without elevated pulmonary venous pressures. Clinical presentation and progression of acute respiratory distress syndrome are followed by frequently ordered portable chest radiography in critically ill patients. We evaluated chest radiographs of ten cancer and other six critical care pediatric patients. The parenchymal imaging of lung in patients with cancer was reported the same as that of other critically ill children despite underlying pathophysiological variations in our investigation