Imaging patterns of fatty liver in pediatric patients

Fatty liver can present as focal, diffuse, heterogeneous, and multinodular forms. Being familiar with various patterns of steatosis can enable correct diagnosis. In patients with equivocal findings on ultrasonography, magnetic resonance imaging can be used as a problem solving tool. New techniques are promising for diagnosis and follow-up. We review imaging patterns of steatosis and new quantitative methods such as proton density fat fraction and magnetic resonance elastography for diagnosis of nonalcoholic fatty liver disease in children

Standart Cordes tekniğine göre kalbin sağ/sol ekseninin ve malpozisyonlarının prenatal ekokardiyografik tanısı

Objective: The aim of this study was to evaluate distinguishing the right/left side of the fetus, cardiac axis and position according to the standardized Cordes technique in 20 cases with cardiac malposition. Methods: We studied retrospectively 1536 cases whose fetal echocardiographic examinations were performed between 1999 and 2006 in prenatal cardiology unit. Among these, cardiac malpositions were determined in 20 cases. The cardiac axis and position were determined according to the Cordes technique. All cases were followed-up by serial fetal echocardiograms until birth or intrauterine death occurred. In cases of intrauterine death, an autopsy was performed. After birth, physical and echocardiographic examinations were done and prenatal and postnatal diagnoses were compared. Results: Of 1536 fetal echocardiograms performed, 144 revealed congenital heart diseases (9.4%), among these cases 20 were diagnosed with cardiac malposition. Of cases with cardiac malposition, 16 had congenital heart disease, and four had extracardiac malformation. There were six cases of isolated dextrocardia, three cases of situs inversus totalis, six cases of situs ambiguous, and one case of situs inversus with isolated levocardia. Of four cases with extracardiac malformations, two cases had mesoposition, one had dextroposition, and one had extreme levoposition. In six cases the autopsy findings were the same as that their prenatal echocardiographic findings. When postnatal echocardiographic results of the remaining cases with cardiac malposition due to congenital heart disease were compared with prenatal diagnoses, the same echocardiographic findings were verified. Conclusion: The fetal right/left axis must be determined correctly for the accurate diagnosis of cardiac malpositions. Therefore, we recommend that Cordes technique provides a simple and reliable determination of the fetal right/left axis and fetal situs.Bu çalışmada, standart Cordes tekniğine göre fetüsün sağ/sol tarafının, kalbin aksının ve pozisyonunun ayrımı ve bu teknikle kardiyak malpozisyon tanısı konulan 20 olgunun değerlendirilmesi amaçlandı. Yöntemler: Çalışmamızda, 1999-2006 yılları arasında prenatal Kardiyoloji ünitesinde fetal ekokardiyografi yapılan 1536 olguyu retrospektif olarak değerlendirildi. Bu olguların 20’sinde kardiyak malpozisyon saptandı. Kalbin aksı ve pozisyonu Cordes tekniğe göre saptandı. Tüm olgular seri fetal ekokardiyografik çalışmalar ile doğuma veya intrauterinde ölüm meydana gelene kadar izlendi. İntrauterin ölen olgulara otopsi yapıldı. Doğumdan sonra fizik muayene ve ekokardiyografik değerlendirme yapıldı, prenatal ve postnatal tanılar karşılaştırıldı. Bulgular: Fetal ekokardiyografi yapılan 1536 olgunun 144’ ünde konjenital kalp hastalığı saptandı ve bu olguların 20’sine kardiyak malpozisyon tanısı konuldu. Kardiyak malpozisyonlu olguların 16’sında konjenital kalp hastalığı ve 4’ünde kalp dışı nedenlere bağlı malpozisyon mevcuttu. Altı olguda izole dekstrokardi, 3 olguda situs inversus totalis, 6 olguda situs ambigus ve 1 olguda izole levokardi ile birlikte situs inversus saptandı. Kalp dışı nedenlere bağlı malpozisyonlu 4 olgunun 2’sinde mezopozisyon, 1’inde dekstropozisyon ve 1’inde ileri levopozisyon mevcuttu. Altı olguya yapılan otopsi bulguları prenatal ekokardiyografik bulgular ile benzerdi. Konjenital kalp hastalığına bağlı kardiyak malpozisyonlu diğer olguların doğum sonrası ekokardiyografik sonuçları prenatal tanılarıyla karşılaştırıldığında aynı sonuçlar elde edildi. Sonuç: Kardiyak malpozisyonun doğru tanısı için fetüsün sağ/sol aksı doğru saptanmalıdır. Bu nedenle fetal situs ve fetüsün sağ/sol aksının saptanmasında kolay ve güvenilir bir teknik olan Cordes tekniğini öneriyoruz

Different features of lung involvement in Niemann-Pick disease and Gaucher disease

SummaryBackgroundNiemann-Pick disease (NPD) and Gaucher disease (GD) are well-known lysosomal storage diseases. Respiratory system involvement is an important cause of morbidity and mortality in patients with NPD and GD.ObjectivesWe tried to assess the clinical, radiological, and histological features of GD and NPD patients with lung involvement.MethodsWe reviewed medical history, physical examination, radiological, and histological data of 10 NPD and 7 GD patients.ResultsThe most common respiratory symptoms were recurrent lung infection and dyspnea. Although lung examination results in 6 NPD patients were normal, they had lung involvement; 3 patients were diagnosed as NPD directly via lung biopsy during investigation of recurrent lung infection or interstitial lung disease. All GD patients but 1 had respiratory system symptoms at the time of diagnosis. Hepatopulmonary syndrome was present in 4 GD patients. A ground-glass pattern and atelectasis were 2 important high-resolution computed tomography features in the NPD and GD patients. Flexible bronchoscopy and bronchoalveolar lavage were used for emergency extraction of bronchial casts in 1 NPD patient.ConclusionsLung involvement in NPD and GD patients should be included in the differential diagnosis of interstitial lung disease. Besides interstitial appearance on HRCT, atelectasis related to bronchial cast and bronchiectasis are other radiological findings in these group of patients. Analysis of bronchoalveolar fluid and lung biopsy provide very important clues for diagnosis. Hepatopulmonary syndrome is an important vascular complication observed in GD patients

Invasive Inflammatory Myofibroblastic Tumor of the Spleen Treated With Partial Splenectomy in a Child

Inflammatory myofibroblastic tumor (IMT) is a rare benign tumor that can be found in intra-abdominal organs such as the liver, intestine, extrahepatic bile ducts, and mesentery. The spleen is an extremely unusual location for an IMT. The authors report the case of a 14-year-old boy with invasive splenic IMT, present a review on the current literature about childhood splenic IMT, and emphasize the necessity of total excision of the tumor together with tumor-invaded surrounding tissues

Thyroid medullary carcinoma in a teenager with Cowden syndrome

Cowden syndrome is a multisystemic cancer predisposition disorder, in which the mucocutaneous lesions are the most constant features. We present a case of Cowden syndrome in a teenage boy with hyperkeratotic papules of the facial skin, especially on the eyelids, with episcleritis, proptosis, and papillomatous lesions on the tip of the tongue and lip mucosa. In addition, two nodules in the thyroid gland were detected. On laboratory examination, the carcinoembryonic antigen (CEA) was 34 ng/mL (normal limits: 0-3 ng/mL). Total thyroidectomy was performed. Histopathologic examination of the specimen revealed thyroid medullary carcinoma. After operation, levels of CEA decreased to normal limits

In vitro and in vivo evaluation of the effects of demineralized bone matrix or calcium sulfate addition to polycaprolactone-bioglass composites

The objective of this study was to improve the efficacy of polycaprolactone/bioglass (PCL/BG) bone substitute using demineralized bone matrix (DBM) or calcium sulfate (CS) as a third component. Composite discs involving either DBM or CS were prepared by compression moulding. Bioactivity of discs was evaluated by energy dispersive X-ray spectroscopy (ESCA) and scanning electron microscopy (SEM) following simulated body fluid incubation. The closest Calcium/Phosphate ratio to that of hydroxyl carbonate apatite crystals was observed for PCL/BG/DBM group (1.53) after 15 day incubation. Addition of fillers increased microhardness and compressive modulus of discs. However, after 4 and 6-week PBS incubations, PCL/BG/DBM discs showed significant decrease in modulus (from 266.23 to 54.04 and 33.45 MPa, respectively) in parallel with its highest water uptakes (36.3 and 34.7%). Discs preserved their integrity with only considerable weight loss (7.5-14.5%) in PCL/BG/DBM group. In vitro cytotoxicity tests showed that all discs were biocompatible. Composites were implanted to defects on rabbit humeri. After 7 weeks, new tissue formation and mineralization at bone-implant interface were observed for all implants. Bone mineral densities at interface were higher than that of implant site and negative controls (defects left empty) but lower than healthy bone level. However, microhardness of implant sites was higher than in vitro results indicating in vivo mineralization of implants. Addition of DBM or CS resulted with higher microhardness values at interface region (ca. 650 mu m from implant) compared to PCL/BG and negative control. Histological studies revealed that addition of DBM enhanced bone formation around and into implant while CS provided cartilage tissue formation around the implant. From these results, addition of DBM or CS could be suggested to improve bone healing efficacy of PCL/BG composites

Imaging Patterns Of Fatty Liver In Pediatric Patients

Fatty liver can present as focal, diffuse, heterogeneous, and multinodular forms. Being familiar with various patterns of steatosis can enable correct diagnosis. In patients with equivocal findings on ultrasonography, magnetic resonance imaging can be used as a problem solving tool. New techniques are promising for diagnosis and follow-up. We review imaging patterns of steatosis and new quantitative methods such as proton density fat fraction and magnetic resonance elastography for diagnosis of nonalcoholic fatty liver disease in children.WoSScopu

Crucial Role Of Posttranslational Modifications Of Integrin Alpha 3 In Interstitial Lung Disease And Nephrotic Syndrome

Interstitial lung disease, nephrotic syndrome and junctional epidermolysis bullosa is an autosomal recessive multiorgan disorder caused by mutations in the gene for the integrin alpha 3 subunit (ITGA3). The full spectrum of manifestations and genotype-phenotype correlations is still poorly characterized. Here, we uncovered the disease-causing role and the molecular mechanisms underlying a homozygous ITGA3 mutation leading to the single amino acid substitution, p.R463W. The patient suffered from respiratory distress and episodes of cyanosis with onset in the first week of life and had a nephrotic syndrome. Although there was no clinical evidence for cutaneous fragility, the analysis of a skin sample and of skin epithelial cells enabled the direct assessment of the authentic mutant protein. We show that the mutation altered the conformation of the extracellular beta-propeller domain of the integrin alpha 3 subunit preventing correct processing of N-linked oligosaccharides, heterodimerization with beta 1 integrin and maturation through cleavage into heavy and light chains in the Golgi. Confocal microscopy demonstrated that the mutant protein accumulated intracellularly, but it was not present in focal adhesions or on the cell membrane as shown by flow cytometry. These findings highlight that single amino acid changes in the integrin alpha 3 subunit may crucially alter the structure and complex processing of this integrin, completely preventing its functionality. The present report also underscores that ITGA3 mutations may account for atypical cases solely with early onset respiratory and renal involvement.WoSScopu

Can the outcome of autoaugmentation omentocystoplasty be improved? Urodynamic, histological, and collagen content evaluation in sheep model

Aim: To compare histological and urodynamic outcome of the classical detrusorotomy with and without the aid of intravesical balloon distension. We also describe a new technique with multiple detrusor incisions instead of detrusorotomy. Methods: A total of 24 animals were included in the study. Three different techniques of autoaugmentation cystoplasty were applied to surgically reduced bladders of 14 sheep. Five sheep underwent surgical reduction of bladder capacity as control group and five sheep underwent sham operation. In Group DIB (detrusor incision with balloon), standard whole thickness incisions on bladder wall were performed and a silicon balloon was inflated intravesically postoperatively. Group DMB (detrusorotomy with balloon) and Group DM (detrusorotomy) underwent standard detrusorotomy. After measuring capacities and compliances, animals were sacrificed on 90th postoperative day. Bladders were histopathologically evaluated. Expression of vascular endothelial growth factor (VEGF), CD31, and microvessel density (MVD) was noted. Quantification of collagen subtypes was also performed. Results: The mean capacity and compliance for Group DM and control were not significantly different and both were lower than other augmentation groups and sham. In Groups DMB and DM fibrosis was significantly increased. The VEGF expression was lower in Group DIB with respect to other augmentation groups whereas MVD was not significantly different. Measurement of total collagen and collagen subtypes revealed an increase in total collagen of groups DMB and DM when compared to other groups. Quantification of collagen subtypes demonstrated that types I and III were significantly increased in aforementioned groups. Conclusion: Autoaugmentation omentocystoplasty in sheep model does not result in a reliable increase in bladder capacity and compliance. Intravesical balloon inflation makes the achievement more pronounced and significantly increases the bladder capacity and compliance