Invasive staging of superior mediastinum in non-small cell lung cancer patients with specific indications

This prospective study was done between February 2001 and December 2002 on 84 non-small cell lung cancer patients who were apparently operable. We selectively performed mediastinoscopy to 46 patients (54.76%, group 1) with the following indications: clinical T4 tumor, high operative risk, radiologically enlarged mediastinal lymph nodes, clinical T3 tumors with central location, radiologically identified mediastinal lymph nodes of any size with adeno or large cell carcinoma histology. Other 38 patients (45.23%, group 2) underwent thoracotomy without mediastinoscopy. Sensitivity, specificity, negative predictive value and positive predictive value of the indications were calculated. Cost analysis was done in the 84 patients and the results were compared with alternative mediastinal staging strategies (vs. routine, and vs. selectively to patients with radiologically positive mediastinal lymph nodes) if they had been applied to our population. Group 1 had higher selectivity to differentiate N2 patients (p=0.02). Sensitivity, specificity, negative predictive value and positive predictive value of indications were calculated as: 0.85, 0.54, 0.92 and 0.36, respectively. Our approach was most economical in terms of total cost per patient and money spent unnecessarily per patient. Mediastinal evaluation in operable lung cancer patients should decrease the number of surgical procedures, N2 disease found at thoracotomy and cost.     

Clinical and laboratory findings of multisystem inflammatory syndrome in children (MIS-C) below age 1

Clinical Rheumatology -     

Apoptosis seems to be the major process while surface and neural ectodermal layers detach during neurulation

Objective The aim of this study is to demonstrate the process of detaching neural and surface ectodermal layers soon after the neurulation completes. Materials and methods Specific pathogen-free chicken egg embryos were used to investigate the neurulation procedure. Ten eggs were saved as controls. The other ten eggs were opened at the 30th hour of embryo development and cultured with Z-VAD-FMK (peptide caspase inhibitor) to investigate the results of the apoptosis inhibition. Embryos were placed and developed up to 48 h in the culture medium. To detect apoptotic cells between neural and surface dermal layers, immunoreactivity of p53 and terminal uridine deoxynucleotidyl transferase dUTP nick end labeling (TUNEL) assay were used. Results While the control group shows positive immunoreactivity of p53 and TUNEL-positive apoptotic cells at the site where the neural folds detach from the surface ectoderm, no TUNEL activity and no detachment were detected in the apoptosis-inhibited group. Conclusion As inhibition of apoptosis prevented the detachment of the neural and surface ectodermal layers from each other at the end of the neurulation, inhibition of apoptosis seemed to cause a considerable embryological error accounted for congenital dermal sinus tractus maldevelopment. This paper was presented at the 35th annual meeting of International Society of Paediatric Neurosurgery, 9–14 September 2007, Liverpool, England.     

Primary antibody deficiencies in Turkey: molecular and clinical aspects

Primary antibody deficiencies (PAD) are the most common subtype of primary immunodeficiencies, characterized by increased susceptibility to infections and autoimmunity, allergy, or malignancy predisposition. PAD syndromes comprise of immune system genes highlighted the key role of B cell activation, proliferation, migration, somatic hypermutation, or isotype switching have a wide spectrum from agammaglobulinemia to selective Ig deficiency. In this study, we describe the molecular and the clinical aspects of fifty-two PAD patients. The most common symptoms of our cohort were upper and lower respiratory infections, bronchiectasis, diarrhea, and recurrent fever. Almost all patients (98%) had at least one of the symptoms like autoimmunity, lymphoproliferation, allergy, or gastrointestinal disease. A custom-made next-generation sequencing (NGS) panel, which contains 24 genes, was designed to identify well-known disease-causing variants in our cohort. We identified eight variants (15.4%) among 52 PAD patients. The variants mapped to BTK (n?=?4), CD40L (n?=?1), ICOS (n?=?1), IGHM (n?=?1), and TCF3 (n?=?1) genes. Three novel variants were described in the BTK (p.G414W), ICOS (p.G60*), and IGHM (p.S19*) genes. We performed Sanger sequencing to validate pathogenic variants and check for allelic segregation in the family. Targeted NGS panel sequencing can be beneficial as a suitable diagnostic modality for diagnosing well-known monogenic PAD diseases (only 2–10% of PADs); however, screening only the coding regions of the genome may not be adequately powered to solve the pathogenesis of PAD in all cases. Deciphering the regulatory regions of the genome and better understanding the epigenetic modifications will elucidate the molecular basis of complex PADs.

     

Correction to: Primary antibody deficiencies in Turkey: molecular and clinical aspects

Immunologic Research -     

Long-Term Experience of Subcutaneous Immunoglobulin Therapy in Pediatric Primary Immunodeficient Patients with Low and Normal Body Weight

Journal of Clinical Immunology - The aim was to review the compliance, side effects and effectiveness of subcutaneous immunoglobulin (SCIG) supplementation in patients with primary...     

Endothelial dysfunction in hemodialysis patients with failed renal transplants

Gorgulu N, Yelken B, Caliskan Y, Elitok A, Cimen AO, Yazici H, Oflaz H, Golcuk E, Ekmekci A, Turkmen A, Yildiz A, Sever MS. Endothelial dysfunction in hemodialysis patients with failed renal transplants.
Clin Transplant 2009 DOI: 10.1111/j.1399‐0012.2009.01160.x
© 2009 John Wiley & Sons A/S. Abstract: Background: Endothelial dysfunction (ED) is a common precursor and denominator of cardiovascular events including development of atherosclerosis. In this cross‐sectional study, we aimed to investigate ED, measured by coronary flow reserve (CFR) in hemodialysis (nHD) patients who were never transplanted and patients with failed renal transplants restarting hemodialysis (fTx‐HD). Methods: Forty nHD (24 males, mean age 39 ± 9 yr) and 43 fTx‐HD patients (27 males, mean age 36 ± 9 yr) were included in the study. Clinical and biochemical parameters, including high‐sensitive C‐reactive protein (hs‐CRP) levels were determined. Also, CFR measurements were used to evaluate ED. Results: There were no significant differences regarding age, gender, smoking status, systolic and diastolic blood pressure levels, mean duration of HD treatment as well as Kt/V_(urea) values between the two groups. Time spent on dialysis in the nHD group and dialysis duration following failure of renal allograft in the fTx‐HD group were similar. Serum creatinine, hemoglobin, hematocrit, calcium and phosphorus levels were similar between the two groups as well. When compared to nHD group, serum total cholesterol (139 ± 3 vs. 154 ± 3 mg/dL, p = 0.045), serum albumin (3.8 ± 0.3 g/dL vs. 4.1 ± 0.2 g/dL, p < 0.0001) and CFR (1.60 ± 0.2 vs. 1.75 ± 0.3, p = 0.028) levels were significantly lower, while serum hs‐CRP levels (11 ± 15 mg/L vs. 3 ± 4 mg/L, p = 0.001) were significantly higher in the fTx‐HD group. Serum hs‐CRP negatively correlated (r = ?0254, p = 0.021), while serum albumin positively correlated (r = 0402, p = 0.001) with CFR values. Conclusion: ED is more prominent in fTx‐HD than the nHD patients. Inflammation, caused by failed renal allograft can be responsible for this abnormality.     

Issues unique to pediatric liver transplantation

Liver transplantation in pediatrics has become an accepted modality of treatment in end-stage liver disease and irreversible acute liver failure. Biliary atresia is the most common indication requiring liver transplantation in children. The diagnosis and causes of acute liver failure in children differ from those in adults. Growth and development require special consideration in children. Regular surveillance of Epstein-Barr virus by polymerase chain reaction and appropriate therapy may reduce the incidence of post-transplant lymphoproliferative disease after transplantation. Adherence to the prescribed medical regimen is essential for good graft function. A multidisciplinary approach is the key to success in liver transplantation in children.     

Kikuchi–Fujimoto Disease: analysis of 244 cases

Kikuchi–Fujimoto Disease (KFD) was first described in Japan in 1972. The disease frequently mimics tuberculous lymphadenitis, malign lymphoma, and many other benign and malignant conditions. To our knowledge, there is no previous study comparing the clinical and laboratory characteristics of patients from different geographical parts of the world. We searched literature records beginning from 1991 and analyzed epidemiological, clinical, and laboratory data of 244 patients (including cases diagnosed in our institution) reported in 181 publications. Of the 244 cases, 33% were male and 77% were female. Mean age was 25 (1–64) and 70% was younger than 30. Most of the cases were reported from Taiwan (36%), USA (6.6%), and Spain (6.3%). Fever (35%), fatigue (7%) and joint pain (7%) were the most frequent symptoms, while lymphadenomegaly (100%), erythematous rashes (10%), arthritis (5%), hepatosplenomegaly (3%), leucopenia (43%), high erythrocyte sedimentation rate (40%), and anemia (23%) being the most common findings. KFD was associated with SLE (32 cases), non-infectious inflammatory diseases (24 cases), and viral infections (17 cases). SLE was more frequent in cases from Asia than Europe (28 and 9%, respectively). The disease was self-limiting in 156 (64%) and corticosteroid treatment was necessary in 16 (16%) of the cases. The mortality rate was 2.1%. Early diagnosis is crucial as the clinical and laboratory presentation generally imitates situations needing lengthy and costly diagnostic and therapeutic interventions. Additionally, association with SLE needs further investigation.