Effects of Obesity on Airway and Systemic Inflammation in Asthmatic Children.

BACKGROUND: Obese asthma is a complex syndrome with certain phenotypes that differ in children and adults. There is no clear evidence regarding the presence of additive or synergistic pathological interaction between obesity and asthma in children. OBJECTIVES: Our aim was to demonstrate the interaction of obesity and asthma in children in terms of airway and systemic inflammation by a controlled observational study. METHODS: Four groups were formed: asthma obese (AO), asthma nonobese (ANO), non-AO (NAO), nonasthma nonobese (NANO). Spirometry test, fractional exhaled nitric oxide (FeNO) test, skin prick test, serum inflammatory biomarkers (C-reactive protein, C3, C4, adiponectin, leptin, resistin, periostin, YKL-40, Type 1, and Type 2 cytokines) were conducted and evaluated in all participants. Sputum inflammatory cells (sputum eosinophils and neutrophils) were evaluated in patients who could produce induced sputum and obesity-asthma interactions were determined. RESULTS: A total of 153 participants aged 6-18 years were included in the study, including the AO group (n = 46), the ANO group (n = 45), the NAO group (n = 30), and the NANO group (n = 32). IL-4 (p < 0.001), IL-5 (p < 0.001), IL-13 (p < 0.001), resistin (p < 0.001), and YKL-40 (p < 0.001) levels were higher in patients with asthma independent of obesity. The lowest adiponectin level was found in the AO group and obesity-asthma interaction was detected (p < 0.001). Sputum eosinophilia (p < 0.01), sputum neutrophilia (p < 0.01), and FeNO levels (p = 0.07) were higher in asthmatic patients independent of obesity. In the group with paucigranulocytic inflammation, resistin and YKL-40 levels were significantly lower than in the group without paucigranulocytic inflammation (p < 0.01). CONCLUSION: No interaction was found between obesity and asthma in terms of airway inflammation. Interaction between obesity and asthma was shown in terms of adiponectin level and resistin/adiponectin and leptin/adiponectin ratios. It was found that serum YKL-40 and resistin levels could be associated with airway inflammation.

Autoimmune atrophic gastritis: The role of Helicobacter pylori infection in children.

BACKGROUND: Autoimmune atrophic gastritis (AIG) is very rare in children. Despite a better understanding of histopathologic changes and serological markers in this disease, underlying etiopathogenic mechanisms and the effect of Helicobacter pylori (H pylori) infection are not well known. We aimed to investigate the relation between AIG and H pylori infection in children. MATERIALS AND METHODS: We evaluated the presence of AIG and H pylori infection in fifty-three patients with positive antiparietal cell antibody (APCA). Demographic data, clinical symptoms, laboratory and endoscopic findings, histopathology, and presence of H pylori were recorded. RESULTS: The children were aged between 5 and 18 years, and 28 (52.8%) of them were male. Mean age was 14.7 ± 2.6 years (median: 15.3; min-max: 5.2-18), and 10 (18.8%) of them had AIG confirmed by histopathology. In the AIG group, the duration of vitamin B12 deficiency was longer (P = .022), hemoglobin levels were lower (P = .018), and APCA (P = .039) and gastrin (P = .002) levels were higher than those in the non-AIG group. Endoscopic findings were similar between the two groups. Intestinal metaplasia was higher (P = .018) in the AIG group. None of the patients in the AIG group had H pylori infection (P = .004). One patient in the AIG group had enterochromaffin-like cell hyperplasia. CONCLUSIONS: Our results show that, in children, H pylori infection may not play a role in AIG. AIG could be associated with vitamin B12 deficiency, iron deficiency, and APCA positivity in children. APCA and gastrin levels should be investigated for the early diagnosis of AIG and intestinal metaplasia.

An Unusual Presentation of Cytomegalovirus Infection: Generalized Edema.

OBJECTIVE: Cytomegalovirus (CMV) infection may rarely lead to protein-losing gastropathy that presents with nausea, vomiting, abdominal pain, and edema in immunocompetent children, but extremely rarely with only generalized edema. CLINICAL PRESENTATION AND INTERVENTION: A previously healthy 5-year-old boy presented with generalized edema without any other symptoms. He had hypoalbuminemia but no proteinuria. He was evaluated for gastrointestinal protein loss, and hypertrophic gastropathy was revealed on esophagogastroduodenoscopy. Meanwhile, CMV infection was detected by serologic tests and polymerase chain reaction in the blood. He recovered spontaneously within a week. CONCLUSION: CMV-related protein-losing gastropathy may present with generalized edema without any gastrointestinal symptoms.

Focal Nodulary Hyperplasia of the Liver Due to Congenital Portosystemic Shunt: A Rare Condition Mimicking Hepatocellulary Carcinoma.

Congenital portosystemic shunts are rare vascular malformations that lead to several complications including liver tumors, pulmonary hypertension, and metabolic encephalopathy. We describe a rare case of a 17-year-old girl with an extrahepatic portosystemic shunt presenting recurrent syncope episodes and a liver mass mimicking hepatocellulary carcinoma.

NUT Midline Carcinoma of the Lung in a Six-Year-Old Child.

BACKGROUND: Nuclear protein of the testis (NUT) midline carcinoma is genetically defined by rearrangement of NUT or by immunohistochemical expression of NUT. FINDINGS: A 6-year old child had a NUT midline carcinoma of the lung. Despite aggressive therapy, the child died. CONCLUSION: NUT carcinoma, which can be diagnosed immunohistochemically, remains an aggressive tumor.

Expression of Epstein-Barr virus in children with sacrococcygeal pilonidal sinus determined by immunohistochemical methods.

In this study, we probed whether chronic infections of skin such as pilonidal sinus could be a potential site of Epstein-Barr virus (EBV) replication. Pilonidal sinus is associated with a high recurrence rate. Therefore, we decided to determine the role of EBV's presence to explain whether it is correlated with the recurrence of pilonidal sinuses. This study was conducted on 36 patient samples with sacrococcygeal pilonidal sinus. Samples were immunohistochemically stained for EBV, CD3 and CD20 expression. Thirty-six adolescents with pilonidal disease were evaluated. EBV-positive cells were located in dermis with high inflammatory activity. EBV-positive cells stained positive for the B-cell antigen CD20 and were detected in 10 of 36 (27%) pilonidal sinus specimens. Among those who had experienced a relapse, three were positive for EBV expression. In addition, EBV expression was detected in eight cases with severe inflammation, and in two with minimal or moderate inflammation. Our study advances the field by demonstrating that similar to gastrointestinal mucosa, skin could be a reservoir for EBV. EBV was found to be restricted to B cells in skin lesions, and it was found that skin lesions with severe inflammation showed higher frequency of EBV expression in comparison to minimal or moderately inflammed skin lesions. Additionally, recurrence was more frequently observed among EBV-positive cases. These findings point out for a role of EBV infection in the recurrence of pilonidal sinuses.

Anaplastic lymphoma kinase gene expression in small round cell tumors of childhood--a comparative immunohistochemical study.

The focus of this study was to investigate anaplastic lymphoma kinase (ALK) expression by immunohistochemistry using a highly specific antibody. Distribution and frequency of ALK expression may provide a clue for ALK inhibitor use in small round cell tumors of childhood. The study group involved 76 small round cell tumors of childhood, which composed of 11 rhabdomyosarcomas, 13 Wilms tumors, 7 Ewing sarcoma/primitive neuroectodermal tumors, 34 peripheral neuroblastic tumors, and 11 acute lymphoblastic lymphoma. Anaplastic lymphoma kinase protein expression in small round cell tumors of childhood is poorly described in the literature. The findings of our study highlight a potential and possible role of targeting ALK in pediatric solid tumors by using ALK immunohistochemistry. Anaplastic lymphoma kinase may also have an oncogenic role in rhabdomyosarcomas and peripheral neuroblastic tumors, and they may possibly be treated with ALK inhibitors. Anaplastic lymphoma kinase expression in Wilms tumors is not reported in the literature, previously. Our study evaluated ALK expression in Wilms tumor samples.

A rare cause of protein losing enteropathy: collagenous sprue.

Collagenous sprue is a clinicopathological entity with an unknown etiology. Its clinical features include progressive malabsorption, diarrhea, weight loss, unresponsiveness to treatment, and high mortality rates. The age interval of collagenous sprue is quite broad and ranges between 2 and 85 years. As far as to our knowledge, the presented case is the first reported case in infancy.

Teratoid Wilms' tumor exhibiting extensive squamous differentiation.

Teratoid Wilms' tumor is a rare renal tumor. Herein, we report an unusual variant of such tumor which simulated renal teratoma because of abundant keratinized squamous epithelium within the tumor.

Chronic lymphocytic leukemia in a child: a challenging diagnosis in pediatric oncology practice.

Chronic lymphocytic leukemia/lymphoma (CLL) is an extremely rare disease during childhood. We report a 16-year-old female who presented with lymphadenopathies and she was diagnosed as T cell lymphoblastic lymphoma. Her chemotherapy response was minimal and clinical findings were unusual. Therefore, her biopsy specimen was re-examined and diagnosis was changed to CLL. Chemotherapy protocol including fludarabine, cyclophosphamide, rituximab was administrated and good response was observed. In our patient deletion at 1q21.2 region that includes aryl hydrocarbon receptor nuclear translocator (ARNT) gene was detected via comparative genomic hybridization method. ARNT gene deletion may be a new mutation in chronic lymphocytic leukemia development.

Cytomegalovirus-related hemorrhagic cystitis in an immunocompetent child.

Cytomegalovirus (CMV) infections are mostly seen in immunocompromised patients. However, unusual manifestations or complications of acquired CMV infections in immunocompetent patients are rarely reported. CMV-related hemorrhagic cystitis is extremely rare but should be considered even in immunocompetent patients. We present a case of a 3-year-old immunocompetent boy with intermittent, terminal gross hematuria lasting for 1 month. There was no history of genitourinary trauma or stone disease. Urine analysis revealed hematuria with eumorphic red blood cells and no proteinuria. Urine culture was negative. Ultrasonography showed increased bladder wall thickness and irregularity at inferior of bladder. Cystoscopy revealed hyperemia and edema. Histopathological examination was consistent with CMV infection, viral DNA by polymerase chain reaction in peripheral blood and urine were positive. Clinical, laboratory, and imaging features pointed towards hemorrhagic cystitis due to CMV. He was followed-up with no treatment. After 1 month, repeated investigations showed complete resolution of finding. This is a rare description of an immunocompetent child with CMV-induced cystitis.

Evaluating Postoperative Outcomes and Investigating the Usefulness of EU-TIRADS Scoring in Managing Pediatric Thyroid Nodules Bethesda 3 and 4

Objective: The aim was to assess postoperative outcomes in pediatric thyroid nodules with atypia of undetermined significance (AUS/FLUS) or suspicious for a follicular neoplasm (SFN) and their respective the European-Thyroid Imaging Reporting and Data System (EU-TIRADS) scores. Methods: Forty-four pediatric patients at a single center with thyroid nodules classified as AUS/FLUS or SFN from August 2019 to December 2022 were retrospectively reviewed. Data on demographics, thyroid function, nodule size, and ultrasonographic features were collected. Postoperative pathologies were categorized into benign, low-risk, and malignant neoplasms according to the World Health Organization 2022 criteria, and EU-TIRADS was used for retrospective radiological scoring. Results: Among 21 (47.7%) of patients who had surgical intervention, 72% had Bethesda 3 and 28% had Bethesda 4 thyroid nodules. Post-surgical histopathological classifications were 43% benign, 19% low-risk, and 38% malignant. Of note, EU-TIRADS 3 and 5 scores were present in 44% and 56% of the benign cases, respectively. Malignant cases tended to produce higher EU-TIRADS scores, with 64% rated as EU-TIRADS 5. Bethesda category 4 nodules had a 66% malignancy rate, significantly higher than the 27% in category 3. Conclusion: A substantial proportion of histologically benign cases were classified as EU-TIRADS 5, suggesting that EU-TIRADS may lead to unnecessary biopsies in benign cases. Malignant cases were more likely to have a higher EU-TIRADS score, indicating a positive correlation with malignancy risk, particularly in Bethesda 4 cases. However, the EU-TIRADS system's predictive value for malignancy in Bethesda 3 cases was poorer.

Isolated mucinous adrenal metastasis in a breast cancer patient.

Mucinous breast carcinoma (MBC) is a rare histological type of breast cancer and rarely associated with advanced disease. We report a case that had MBC with an isolated adrenal metastasis which was removed by laparoscopic adrenelectomy. This case is unique due to the unexpected metastasis of pure mucinous carcinoma developed after 4 years of hormone therapy.

Insulin-like growth factor-1 receptor expression in pediatric tumors: a comparative immunohistochemical study

Background/aim: Insulin-like growth factor-1 receptor (IGF-1R) is a pivotal receptor tyrosine kinase involved in the cell cycle and malignant tumor transformation. It is differentially expressed in various types of tumors. We aimed to determine the expression of IGF- 1R in different pediatric tumors and to shed light on possible new indications of anti-IGF-1R treatment approaches. Materials and methods: A total of 147 specimens were analyzed according to their expression of IGF-1R. Specimens included those from rhabdomyosarcomas, Wilms tumors, Ewing sarcoma/primitive neuroectodermal tumors, peripheral neuroblastic tumors, acute lymphoblastic lymphoma, Hodgkin lymphoma, Burkitt lymphoma, retinoblastoma, pleuropulmonary blastoma, Langerhans cell histiocytosis, endodermal sinus tumors (ESTs), and myeloid sarcoma. Analysis was performed on tissue sections by immunohistochemically staining for IGF-1R expression. Results: All six specimens of EST cases showed positivity for IGF-R1. Additionally, about 56% of the Hodgkin lymphoma, 80% of the rhabdomyosarcoma, and 70% of the Wilms tumor specimens showed positivity for IGF-R1 expression. Conclusion: All ESTs examined in our study expressed IGF-1R and to our knowledge this is the first report regarding ESTs and IGF-1R expression. IGF-1R could be included among confirmatory markers for ESTs and, from a therapeutic viewpoint, ESTs should also be examined for IGF-1R expression for beneficial regimens.

Squamous cell carcinoma associated with Xeroderma pigmentosum: an unusual presentation with a tremendously huge mass over the face and paraneoplastic hypercalcemia-hyperleukocytosis.

Emir S, Hacisalihoglu S, Özyörük D, Kaçar D, Erdem A, Karakus E. Squamous cell carcinoma associated with Xeroderma pigmentosum: an unusual presentation with a tremendously huge mass over the face and paraneoplastic hypercalcemia-hyperleukocytosis. Turk J Pediatr 2017; 59: 711-714. Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder that results from genetic defects in DNA repair and manifests with a marked hypersensivity to ultraviolet rays. Children with X-P are at high risk of developing skin cancers. On the other hand, hypercalcemia-hyperleukocytosis is a rare paraneoplastic syndrome in children with cancer compared to adults. Here, we report a five-year-old female with X-P and squamous cell carcinoma (SCC). The patient presented with a necrotic, ulcerating huge mass sized 20x15x10 cm involving the right half of the face. She had a history of increased freckling over the face since the age of two years. Her other cutaneous findings are dryness of skin, photosensitivity, freckling and telengiectasis all over the body. A diagnosis of Xeroderma pigmentosum was made based on clinical features. She also had high fever, anemia, hyperleukocytosis, thrombocytosis and hypercalcemia. After pathological diagnosis of squamous cell carcinoma, she was treated with chemotherapy. All the symptoms and signs resolved dramatically with the initiation of chemotherapy. Our case is an example of early development of massive disfiguring SCC in children with undiagnosed and untreated X-P. Although we could not prove the paraneoplastic nature of hypercalcemia-hyperleukocytosis, dramatic response to the chemotherapy may be an evidence for paraneoplastic origin.

Pediatric bladder/prostate rhabdomyosarcoma: Eight cases from a single center.

In this study, clinical characteristics, treatment modalities and outcome of patients diagnosed with bladder/prostate rhabdomyosarcoma (BP RMS) were evaluated retrospectively. Files of 8 children diagnosed with BP RMS and treated between 2004-2014 were reviewed for clinical characteristics, treatment modalities and outcome. Seven males and one female were diagnosed with BP RMS between 2004-2014. Median age was 33.5 months (range, 2 to 176 months). At presentation the main clinical symptoms were hematuria in 5 patients, and constipation, oliguria and prolonged jaundice in 1 patient each. All patients were non-metastatic and only one had an embryonal histology. Primary resection before chemotherapy was performed on only one patient. Six patients were treated initially with VAC chemotherapy for 12 weeks, two patients were treated PIAV (ifosfamide, cisplatin, doxorubicin, vincristine). Local relapse or progressive disease occurred in 5 of 8 patients, and two of these patients underwent primary or secondary tumor resection without radiotherapy. Three patients developed a local relapse after combination of radiochemotherapy and tumor resection. Radical surgical treatment was performed in 3 patients with local relapse. Only one patient underwent partial cystectomy. Six of 8 patients were alive and under follow-up without disease at a median survival of 53 months (range, 13 to 78 months). BP RMS requires a multidisciplinary treatment approach. There is a general consensus that chemotherapy is the mainstay of treatment in BP RMS, but the method to be used for local control is controversial, and may vary from case to case in this heterogeneous disease.

Occurrence of Wilms' tumor in a child with hereditary spherocytosis.

Hereditary spherocytosis (HS) is the most frequent cause of congenital hemolytic anemia. It is an autosomal dominant genetic disorder characterized by cell membrane abnormalities, specifically in red blood cells. Although the association between benign, borderline and malignant tumors and HS is not clear, various tumors such as splenoma, adrenal myolipoma, pancreatic schwannoma, ganglioneuroma, extramedullary hematopoiesis, myeloproliferative disorders, multiple myeloma, B-cell lymphoma and acute lymphoblastic leukemia have been presented in case reports concerning HS patients. Here we describe a 6-year-old boy with HS who presented with a mass in the left kidney. Tru-cut biopsy revealed Wilms' tumor (WT). To the best of our knowledge, this is the first case of WT associated with HS to be reported in the literature.

Is there a role of interstitial cells of Cajal and mast cells and eosinophils in appendicitis in children?

BACKGROUND/AIM: The aim of this study was to compare the distribution of interstitial Cajal cells, eosinophils, and mast cells in normal and inflamed appendices, and to evaluate the correlation of presence of these cells with severity of inflammation in appendicitis. MATERIALS AND METHODS: The appendicitis group (n = 30) was divided further into three groups according to the macroscopic description and the histological findings. Ten normal appendices served as controls. Tissue samples were processed for routine histological examination. Additionally, all sections were immunohistochemically stained with CD117 and mast cell tryptase antibodies. RESULTS: When specimens were compared in terms of Cajal cells, the observed mean number for the appendicitis group was 4.9 and for the control group it was 8.3. In contrast, eosinophils and mast cells were significantly increased in the appendicitis group when compared with the control group. CONCLUSION: We detected that eosinophils and mast cells are increased in appendicitis, and correlate with the degree of inflammation of the appendix. The density of interstitial Cajal cells was significantly lower in patients with severe appendix inflammation compared to controls. The histopathological differences observed in this study may help elucidate the pathophysiology of appendicitis.

Atypical ß-Catenin Activated Child Hepatocellular Tumor.

Hepatocellular adenomas are a benign, focal, hepatic neoplasm that have been divided into four subtypes according to the genetic and pathological features. The ß-catenin activated subtype accounts for 10-15% of all hepatocellular adenomas and specific magnetic resonance imaging features have been defined for different hepatocellular adenomas subtypes. The current study aimed to report the magnetic resonance imaging features of a well differentiated hepatocellular carcinoma that developed on the basis of ß-catenin activated hepatocellular adenomas in a child. In this case, atypical diffuse steatosis was determined in the lesion. In the literature, diffuse steatosis, which is defined as a feature of the hepatocyte nuclear factor-1α-inactivated hepatocellular adenomas subtype, has not been previously reported in any ß-catenin activated hepatocellular adenomas case. Interlacing magnetic resonance imaging findings between subtypes show that there are still many mysteries about this topic and larger studies are warranted.