Hulya Tosun Yildirim

Sarcolemmal alpha and gamma sarcoglycan protein deficiencies in Turkish siblings with a novel missense mutation in the alpha sarcoglycan gene.

BACKGROUND The sarcoglycan alpha gene, also known as the adhalin gene, is located on chromosome 17q21; mutations in this gene are associated with limb-girdle muscular dystrophy type 2D. We describe two Turkish siblings with findings consistent with limb-girdle muscular dystrophy type 2D. The evaluation excluded a dystrophinopathy, which is the most common form of muscular dystrophy. PATIENTS Both siblings had very high levels of creatinine phosphokinase and negative molecular tests for deletions and duplications of the dystrophin gene. The older boy presented at 8 years of age with an inability to climb steps and an abnormal gait. His younger brother was 5 years old and had similar symptoms. The muscle biopsy evaluation was performed only in the older brother. RESULTS The muscle biopsy showed dystrophic features as well as a deficiency in the expression of two different glycoproteins: the alpha sarcoglycan and the gamma sarcoglycan. Sarcolemmal expressions of dystrophin and other sarcoglycans (beta and delta) were diffusely present. DNA analysis demonstrated the presence of previously unknown homozygous mutations [c.226 C > T (p.L76 F)] in exon 3 in the sarcoglycan alpha genes of both siblings. Similar heterozygous point mutations at the same locus were found in both parents, but the genes of beta, delta, and gamma sarcoglycan were normal in the remaining family members. CONCLUSIONS We describe two siblings with limb-girdle muscular dystrophy type 2D with a novel missense mutation. These patients illustrate that the differential diagnosis of muscular dystrophies is impossible with clinical findings alone. Therefore, a muscle biopsy and DNA analysis remain essential methods for diagnosis of muscle diseases.

Late ureteral obstruction after endoscopic treatment of vesicoureteral reflux with polyacrylate polyalcohol copolymer.

OBJECTIVE To investigate the incidence and presentation of ureteral obstruction after endoscopic injection of polyacrylate polyalcohol copolymer (PPC) for the treatment of vesicoureteral reflux, and to analyze its possible causes, together with histopathologic assessment. PATIENTS AND METHODS The data of 189 patients who underwent endoscopic injection of PPC between May 2011 and December 2013 were retrospectively reviewed. After the injection, patients were followed up by urinalysis and ultrasonography monthly for 3 months. Control voiding cystouretrography was performed in the third postoperative month. Patients were then followed up by ultrasound every 3 months. If a new-onset hydroureteronephrosis (HUN) was observed, control ultrasound was performed monthly to follow the change in the degree of HUN. If a moderate or severe HUN was observed, technetium-99m mercaptoacetyltriglycine or dimercaptosuccinic acid scintigraphy was performed. For patients who needed open surgery, Cohen ureteroneocystostomy was performed. The distal 1 cm of the ureters was resected and examined histopathologically. RESULTS One hundred eighty-nine patients with 268 refluxing ureters underwent endoscopic injection of PPC. Ureteral obstruction was observed in 3 ureters (1.1%), in 3 female patients of whom the degrees of reflux were grade 4, 5, and 5, respectively. Obstruction showed late onset in all 3 patients. Manifestations of obstruction included pain in 2 patients and recurrent febrile urinary tract infection with loss of function in scintigraphy in 1. All 3 patients underwent open ureteroneocystostomy. CONCLUSION PPC may cause ureteral obstruction several months or even years after injection. Patients who undergo endoscopic treatment of PPC need long-term follow-up, despite reflux showing complete resolution.

Open ureteroneocystostomy after failed endoscopic injection with three different bulking agents for the treatment of vesicoureteral reflux

BACKGROUND/PURPOSE To evaluate the success rate of open ureteroneocystostomy (UNC) after failed endoscopic treatment of vesicoureteral reflux (VUR) in children and to discuss the reasons for failure under the light of histopathological findings. METHODS The clinical data of 371 patients who underwent endoscopic injection for VUR at our institution for the treatment of VUR between January 2008 and January 2014 were reviewed. Patients who were submitted to open ureteral reimplantation following failed endoscopic injection were included in the study. RESULTS Among 371 patients, 34 (49 ureters) were submitted to open UNC (9.1%). There were 22 female and 12 male patients. Three different injection materials were used; dextranomer/hyaluronic acid in 29, carbon-coated beans in 7 and polyacrylate polyalchohol copolymer in 13. Histological study revealed that the injected material was identified in 34 ureters as malpositioned. Control VCUG 6 months after UNC showed complete resolution in 46 of 47 ureters (97.87%). CONCLUSIONS Previous endoscopic injection, although causing difficulty in dissection to some degree, does not alter the success rate of UNC. According to the histopathological findings, the cause of failure of injection seems to be attributable to incorrect plane of injection or leakage of the agent after injection.

Massive pericardial effusion due to intrapericardial mixed germ cell tumor in a premature baby.

Primary cardiac tumor is uncommon in childhood, with an incidence of 0.06–0.32%, and intrapericardial teratoma represents an exceptional rarity among these entities. Germ cell tumors (GCT) are rare, representing only 1–3% of childhood tumors. Twenty per cent of GCT are malignant and are associated with age and location. Extragonadal involvement accounts for nearly half of the cases. Anterior mediastinum is a common location of malignant germ cell tumors, yet pericardial and aortic adventitia involvement have been rarely reported. Here we report the case of a preterm twin baby boy with intrapericardial mixed germ cell tumor who presented with hydrops fetalis and pericardial effusion.

Retrospective Evaluation of Children with Congenital Pulmonary Airway Malformation: A Single Center Experience of 20 Years

ABSTRACT Objectives: Congenital pulmonary airway malformation (CPAM) is an uncommon congenital abnormality of the lungs that generally presents during prenatal period or early childhood. In this study, we aimed to evaluate clinical and pathologic findings of the children with CPAMs who were referred to our center between 1992 and 2011. Material and Methods: We reviewed 19 children with CPAM, who were diagnosed and treated at the Izmir Dr. Behçet Uz Childrens Hospital between 1992 and 2011. All of them are alive and have been still followed up by our center. Results: The study population consisted of 9 boys (47.4%) and 10 girls (52.6%) with a mean age of 3.26 (1 month - 13 years). Most newborns had respiratory distress, while recurrent pulmonary infections were detected in older children. Surgical treatment was performed on patients with subtypes I (n = 4; 21.1%), II (n = 8; 42.1%), III (n = 5; 26.3%), and IV (n = 2; 10.5%). In 13 cases (63.4%), lesions were located in the right lung and in almost all cases lesions were confined to one lobe. A one-month- old child with type I CPAM had multiple lesions involving two lobes and in only a newborn with type II CPAM, lesions were located bilaterally. There was no type 0 cases in this series. All cases were treated with lobectomy without any complication. Conclusion: In the present study, a realistic comprehensive picture of CPAM in a central childrens hospital has been provided. In addition, we want to emphasize that complications and unnecessary medical treatment could be reduced with early surgery.

Can neonatal hepatitis be more fatal than biliary atresia

Background/Aims: The basic problem in diagnosis of neonatal cholestasis (NC) is to differentiate biliary atresia (BA) from other non-obstructive disorders. Because if bile flow cannot be provided by surgery, BA leads to cirrhosis and death within the first year of life. The aim of the present study is to determine histopathological features that may help to differentiate BA from neonatal hepatitis (NH). Material and Methods: This retrospective study was carried out on 105 liver biopsy specimens of 74 infants with NC who were diagnosed between 2003 and 2012. Results: The mean age was 76.5 ± 40.64 days. The most valuable biopsy findings for the discrimination between NH and BA, in decreasing order of importance, were ductular proliferation (p < 0.001), cholestasis in neoductuli (p < 0.001), fibrosis (p = 0.002), and extramedullar hematopoiesis (p = 0.02). While Kasai operations were performed in 19 cases, liver transplantation was performed in 10 cases. Survival rate among the death cases with BA was longer than the survival time of the death cases with NH (p = 0.023). Currently more children live with a close to normal quality of life with portoenterostomy and/or liver transplantation. On the contrary, NH can be more fatal with associated disorders such as growth retardation, specific infections, respiratory distress, and metabolic or endocrine diseases.

Acute generalized exanthematous pustulosis induced by ceftriaxone use

Acute generalized exanthematous pustulosis (AGEP) is a rare cutaneous rash characterized by the abrupt onset of a generalized pustular rash often accompanied by fever. There is a history of drug use in 90% of the cases. Here we have reported a 15-year-old male patient with sickle cell anemia who developed AGEP after the use of ceftriaxone. Our patient was hospitalized because of vaso-occlusive crisis and on the third day of ceftriaxone treatment, erythematous pustular lesions accompanied with fever were observed on the body and extremities. Resolution of symptoms followed discontinuation of ceftriaxone. Sensitivity to ceftriaxone was shown with a patch test. The AGEP was considered due to clinical and histopathological findings. This is the first pediatric case of AGEP due to ceftriaxone.

Concomitant Alpha- and Gamma-Sarcoglycan Deficiencies in a Turkish Boy with a Novel Deletion in the Alpha-Sarcoglycan Gene

Limb-girdle muscular dystrophy type 2D (LGMD-2D) is caused by autosomal recessive defects in the alpha-sarcoglycan gene located on chromosome 17q21. In this study, we present a child with alpha-sarcoglycanopathy and describe a novel deletion in the alpha-sarcoglycan gene. A 5-year-old boy had a very high serum creatinine phosphokinase level, which was determined incidentally, and a negative molecular test for the dystrophin gene. Muscle biopsy showed dystrophic features. Immunohistochemistry showed that there was diminished expression of alpha- and gamma-sarcoglycans. DNA analysis revealed a novel 7 bp homozygous deletion in exon 3 of the alpha-sarcoglycan gene. His parents were consanguineous heterozygous carriers of the same deletion. We believe this is the first confirmed case of primary alpha-sarcoglycanopathy with a novel deletion in Turkey. In addition, this study demonstrated that both muscle biopsy and DNA analysis remain important methods for the differential diagnosis of muscular dystrophies because dystrophinopathies and sarcoglycanopathies are so similar.

Expression of Neutrophil Gelatinase-Associated Lipocalin and Kidney Injury Molecule-1 in Wilms Tumor.

Abstract Objective: Neutrophil gelatinase-associated lipocalin (NGAL) and Kidney injury molecule-1 (KIM-1) play important roles in both immunity and cell proliferation. It was reported previously that they are overexpressed in various human cancers. The present study was undertaken to examine the expressions of NGAL and KIM-1 in Wilms Tumors. Material and Method: Tissue samples of 50 Wilms Tumors were evaluated and underwent immunhistochemical staining for NGAL and KIM-1 protein expressions. The correlations between them, and some clinical prognostic factors such as tumor weight, stage and histological features were also evaluated. Results: Twenty-three (46%) of the cases were male while 27 (54%) were female. The mean age was found to be 3.26±2 years. The average tumor size was 9.16 ± 2.9 cm in diameter and the average weight of the kidney was 478±312 gr. Thirteen (26%) cases were stage I, 18 (36%) cases were stage II, 7 (14%) cases were stage III, and 6 (12%) cases were stage IV. Thirty-nine cases were alive (78%), while 11 cases (22%) were deceased. Mean overall survival time was 68.2±39.5 (2-148) months. NGAL expression was negative in all tumors except the neutrophils within the tumors. KIM-1 expression was positive in 37 tumors (74%), while it was absent in 13 tumors (26%). Using Mann-Whitney U Analysis, KIM-1 expression was found to be associated with the stage of the tumor (p=0.027). Conclusion: The preliminary data indicates that KIM-1 expression may be associated with stage in Wilms Tumor. However, further studies are needed to validate these pilot observations and to clarify the functional and mechanistic significance of this relevance.

Çocukta obezite ile birlikte lipoödematöz skalp

On bir yasindaki kiz cocugu basinin cesitli bolgelerinde sungerimsi yapida sislikler olmasi nedeniyle basvurdu. Bu bolgelerdeki sac gelisimi ve cilt normal gorunuyordu. Eksojen obezite disinda sistemik hastalik bulgusu yoktu. Ultrasonografi sislik bolgesinde cilt alti doku kalinliginda artis oldugunu gosterdi. Histopatolojik inceleme dermisde elastik liflerde kirilma ve cok sayida kil follikulu iceren cilt alti yag dokusunda kalinlik artisi oldugunu ortaya cikardi. Klinik ozellikler ve lezyondaki histopatolojik degisikler daha once cogunlukla yetiskin kadinlarda tanimlanan lipoodematoz skalp tanisi ile uyumlu idi.