Üriner Sistemin Konjenital Anomalisi (USKA) Olan Çocukların Klinik Seyirleri ve Bu Hastalarda Son Durum Hakkında Fikir Verebilecek Ilk Değişkenlerin Saptanması

Congenital anomalies of kidney and urinary tract (CAKUT) is one of the most common causes of chronic renal failure (CRF) in childhood. CAKUT is a spectrum of renal, ureteral, bladder and urethral anomalies and results from genetic abnormalities . There are several studies related to pathogenesis, progression and outcome of CAKUT but there is no consensus on them . In this retrospective study, we aimed to characterize subgroups of CAKUT and their particular course. Futhermore we also aimed to determine, if any, initial factors that would be related to CRF. Three hundred patients (203 male, 97 female) were included in the study. They were divided into 16 subgroups according to their diagnosis. Antenatal hydronephrosis and multicystic dysplastic kidney diseases were found as the most common subgroup of CAKUT. Males were dominant in all sub-groups. Patients with posterior urethral valve (PUV) had the worst prognosis in CAKUT and these patients progressed to CRF earlier than the other subgroups. PUV was the leading cause that needs surgery in early in life.. Proteinuria and vesicourethral reflux (VUR) were found to be more prevalent in those patients who progressed to CRF. Olygohydramniosis was found to be a significant predictor for CRF and these patients reached end stage renal failure earlier when compared to other subgroups. There was no difference in glomerular filtration rate between patients with obstruction of ureteropelvic junction (UPJ) who underwent surgery and who did not. We detected increased risk of hypertension in patients with multicystic dysplastic kidney and renal agenesis , and increased risk of VUR in patients with horse shoe and ectopic kidney . VUR was prevalent in males than in females with increased risk of risk of urinary tract infection. Factors related to worse prognosis were PUV, male gender, proteinuria, presence of VUR, urinary tract infection and olygohydramniosis. This study provides important findings in terms of disease course and outcome that would be a guide in routine practice.Üriner sistemin konjenital anomalileri (USKA) çocukluk çağının en sık görülen KBY nedenlerinden birisidir. Hastalığın temelinde genetik nedenler yatmakta olup böbrek, üreter, mesane ve üretrayla ilgili patolojileri kapsayan geniş bir yelpazedir. Dünyada USKA'nın klinik seyri ve patogeneziyle ilgili yapılmış birçok çalışma bulunmaktadır. Ancak hastalığın klinik seyri ve prognozda etkili faktörlerle ilgili tam bir görüş birliği bulunmamaktadır. Bu çalışmada USKA alt tiplerinin genel özellikleri, klinik seyri, USKA ve kronik böbrek yetmezliği (KBY) ilişkisi ve hastalığın prognozunu etkileyen faktörler araştırılmıştır. Çalışmaya 97'si kız, 203'ü erkek, toplamda 300 USKA tanısıyla izlenen hasta dahil edildi ve tanılarına göre alt gruplara ayrıldı. En sık antenatal hidronefroz (HN), sonrasında multikistik displastik böbrek (MKDB) tespit edildi. Tüm tanı gruplarında erkekler daha fazlaydı. Posterior uretral valf'in (PUV) en kötü prognozlu grup olduğu, bu hastaların KBY'ye diğer gruplara göre çok daha erken yaşta girdiği tespit edildi. En çok ameliyat edilen PUV grubu olup ilk bir ayda opere edilenlerin daha geç yaşta KBY'ye girdiği saptandı. Proteinüri ve vezikoureteral reflü (VUR) KBY'deki hastalarda anlamlı olarak fazla olup oligohidramniyozu olanların daha çok KBY'ye girdiği belirlendi. Çalışmada opere edilen ve edilmeyen UP darlıklı hastaların glomerüler filtrasyon hızları (GFH) arasında anlamlı fark bulunmadı. MKDB ve renal agenezili hastaların normal popülasyona göre artmış hipertansiyon riski taşıdığı, ektopik böbreği ve at nalı böbreği olanlardaysa VUR riskinin arttığı belirlendi. VUR'u olan hastaların çoğu erkek olup bunlarda idrar yolu enfeksiyonu (İYE) artmıştı. MKDB için kist involüsyonu ve boyutu arasında bir ilişki bulunamadı. Sonuçlarımız doğrultusunda prognostik göstergeler; PUV alt grubu, proteinüri , erkek cinsiyet, oligohidramniyoz varlığı, eşlik eden VUR , tekrarlayan İYE olarak saptandı.. Ayrıca MKDB ve renal agenezili hastalarda hipertansiyonun normal popülasyondan fazla görüldüğü ortaya kondu. Ailede USKA hikayesi ve , prematüritenin çocukluk ve adölesan dönemde klinik gidişe etkisinin olmadığı saptandı. USKA'nın klinik seyrinin, prognostik faktörlerinin tespit edilmesi hastaların tedavileri ve klinik takiplerinde hekimler ve hastalar için yol gösterici olacaktır

ANTEP FISTIĞI DUYARLILIĞI OLAN ÇOCUKLARDA ALERJİYİ ÖNGÖRECEK PARAMETRELERİN BELİRLENMESİ

Pistachio and cashew nut belonging to the botanically same family are the tree nuts that induce serious allergic reactions. We aimed to determine the characteristics and the predictors of pistachio and cashew nut allergy in children. For this purpose, we determined SPT, sIgE, and sIgE / Total IgE cutoff values for both pistachio and cashew nut, and created probability curves. Concomitant allergic disorders such as atopic dermatitis, asthma, allergic rhinitis, food allergy, and family atopy were asked. All patients were performed SPT with pistachio, cashew nut, other tree nuts, pumpkin seed, sunflower seed, mango, lemon seed, orange seed, and pollens. Serum of 11 children were collected for the determination of pistachio or cashew nut allergenic protein bands. Among all laboratory and clinical parameters, only SPT wheal size was determined as risk factor for positive pistachio and cashew nut challenge. Area under curve (AUC) both for pistachio and cashew nut SPT was higher than sIgE and sIgE/Total IgE levels. Cutoff values for pistachio SPT, sIgE, and sIgE/Total IgE predicting reactivity were 7.25 mm, 4.14 kU/L, and 1.32%, respectively. Determined optimal cutoff value for cashew nut SPT was 6.25 mm, for sIgE was 1.125 kU/L, and for sIgE/Total IgE was 3.30%. Allergen protein bands for pistahio and cashew nut were not identified to make a clear-cut discrimination between allergic and only sensitized individuals. In conclusion, SPT both for pistachio and cashew nut was the best predictor for OFC positivity. Furthermore, sIgE/Total IgE ratio was stronger and more accurate marker than only sIgE value.Botanik olarak aynı familyaya ait olan antep fıstığı ve kaju ciddi alerjik reaksiyonlara neden olan kuruyemişlerdir. Bu çalışmada çocuklarda antep fıstığı ve kaju alerjisinin özellikleri ve alerjiyi öngörebilecek belirteçlerini bulmayı amaçladık. Bu amaçla, hem antep fıstığı hem de kaju için SPT, sIgE ve sIgE / Total IgE cutoff değerlerini belirledik ve olasılık eğrileri oluşturduk. Atopik dermatit, astım, alerjik rinit, besin alerjisi ve ailede atopi gibi durumlar sorgulandı. Tüm hastalara antep fıstığı, kaju, diğer kuruyemişler, kabak çekirdeği, ayçekirdeği, mango, limon ve portakal çekirdeği, polen ile DPT uygulandı. Ayrıca, alerjiden sorumlu protein bantların tanımlanması için 11 hastanın serumları ayrılarak Western Blot yöntemiyle çalışıldı. Tüm laboratuvar ve klinik parametreler arasında, sadece DPT boyutu, pozitif antep fıstığı ve kaju OPT için risk faktörü olarak belirlenmiştir. Ek olarak, hem antep fıstığı hem de kaju DPT için eğri altındaki alan (AUC), sIgE ve sIgE / Total IgE seviyelerinden daha yüksekti. Antep fıstığı için belirlenen kesim değerleri 7.25 mm (DPT), 4.14 kU / L (sIgE) ve % 1.32 (sIgE/Total IgE) idi. Kaju DPT için belirlenen optimum kesim değeri 6.25 mm, sIgE değeri 1.125 kU / L ve sIgE / Total IgE için% 3.30 idi. Reaktiviteyi öngörebilecek antep fıstığı ve kaju protein bantları içinde duyarlı ve alerjik hastaları güçlü ve net bir şekilde ayırt edebilecek bir bant bulunamadı. Sonuç olarak, antep fıstığı ve kaju için DPT, OPT pozitifliğinin en iyi göstergesidir. Ayrıca, sIgE / Total IgE oranının sadece sIgE değerinden daha güçlü ve daha doğru bir belirteç olduğunu belirledik

Childhood atopic dermatitis

Atopic dermatitis (AD) is the most common chronic inflammatory skin disorder of childhood. Underlying factors that contribute to AD are impaired epithelial barrier, alterations in the lipid composition of the skin, immunological imbalance including increased Th2/Th1 ratio, proinflammatory cytokines, decreased T regulatory cells, genetic mutations, and epigenetic alterations. Atopic dermatitis is a multifactorial disease with a particularly complicated pathophysiology. Discoveries to date may be considered the tip of the iceberg, and the increasing number of studies in this field indicate that there are many points to be elucidated in AD pathophysiology. In this review, we aimed to illustrate the current understanding of the underlying pathogenic mechanisms in AD, to evaluate available treatment options with a focus on recently discovered therapeutic agents, and to determine the personal, familial, and economic burdens of the disease, which are frequently neglected issues in AD. Currently available therapies only provide transient solutions and cannot fully cure the disease. However, advances in the understanding of the pathogenic mechanisms of the disease have led to the production of new treatment options, while ongoing drug trials also have had promising results.PubMedWoSScopu

Mesh Nebulizer Is As Effective As Jet Nebulizer In Clinical Practice Of Acute Asthma In Children

Background/aim The aim of this study was to compare the effect of salbutamol delivered to children by jet nebulizer (JN) and mesh nebulizer (MN). Materials and methods Children admitted with acute asthma were treated with 3 doses of nebulized salbutamol, 1 given by MN. The patients’ vital signs, lung function measurements, modified pulmonary index score (MPIS), and whole body plethysmography (WBP) measurements were evaluated before and 20 min after each dose of salbutamol. Results Thirty-onechildren [9.5 (6.4–17.2) years, 67.7% male, 32.3% female] with mild (67.7%) and moderate (32.3%) asthma attacks were included in the study. The improvements with MN were comparable with JN in terms of changes in pretreatment and posttreatment forced expiratory volume in the first second (FEV1) (2.57 ± 4.57, 3.65 ± 5.44; P = 0.44), forced vital capacity (FVC) (2.52 ± 5.29, 4.17 ± 7.54; P = 0.28), heart rate (7.33 ± 10.21, 4.14 ± 9.32; P = 0.24), peripheral capillary oxygen saturation (SpO2) (0.38 ± 0.23, 0.43 ± 0.15; P = 0.83), and modified pulmonary index score (MPIS) (−6.30 ± 22.70, −8.77 ± 25.46; P = 0.70). The pre- and posttreatment values of total lung capacity (TLC), residual volume (RV), specific conductance (sGaw), and RV/TLC were similar for the JN and MN groups. Adverse effects were not different: however, complaints of palpitation were significantly higher in the posttreatment MN group than the pretreatment MN group (32.3% vs 9.7%, respectively, P = 0.016). Conclusions These findings support the previous evidence found in studies of adults that MN is as effective as and as safe as JN in the treatment of acute asthma in children.PubMedWoSScopu

A Novel Interleukin 17 Receptor A Mutation in a Child with Chronic Mucocutaneous Candidiasis and Staphylococcal Skin Infections

Objective: Chronic mucocutaneous candidiasis leads to persistent or recurrent fungal infections of the nail, skin, oral, and genital mucosa. Impaired interleukin 17-mediated immunity is a cause of chronic mucocutaneous candidiasis. We aimed to show the pathogenicity of a novel interleukin 17 receptor A mutation through functional studies. Materials and Methods: After next-generation sequencing analysis showed the interleukin 17 receptor A variant, we confirmed the variant by Sanger sequencing and functional validation of the variant by flow cytometry. Results: We present the case of a 6-year-old male patient who presented with recurrent oral and genital Candida infections and eczema. He had staphylococcal skin lesions, fungal susceptibil-ity, and eczema. The patient carried a novel homozygous nonsense [(c.787C> T) (p.Arg263Ter)] mutation in the interleukin 17 receptor A gene. Sanger sequencing confirmed the variant and revealed the segregation of the variant in the family. We used flow cytometry to detect interleukin 17 receptor A protein expression in peripheral blood mononuclear cells from patients and measured Th17 cell percentage. We observed low interleukin 17 receptor A protein expression in patient peripheral blood mononuclear cells, decreased CD4+ interleukin 17+ cell percentage, and decreased interleukin 17F expression in CD4+ cells compared to healthy controls. Conclusions: Innate immune defects may lead to chronic recurrent fungal and bacterial infections of the skin, mucosa, and nails. Generally, genetic and functional analysis is needed in addition to basic immunological tests

Evaluation of periodontal status and cytokine/chemokine profile of GCF in patients with severe congenital neutropenia

Severe congenital neutropenia (SCN) is a primary immunodeficiency characterized by defect in neutrophil count. Increased risk of infections in addition to periodontal problems, such as ulcerations of oral mucosa, gingival inflammation, and rapid loss of attachment are common in the course of the disease. The aim of the present study is to define the causal relationship between the severity of periodontal inflammation and severe congenital neutropenia through identification of cytokine profile in gingival crevicular fluid (GCF). A case–control study was performed in patients diagnosed with SCN and healthy controls. Demographic data, the molecular defect, laboratory work-up were gathered from the hospital registry. Periodontal indices were recorded and GCF samples were analyzed using multiplex analysis for the simultaneous measurements of the particular cytokines and chemokines. The present study included 14 patients and 22 control subjects. Both groups were comparable in terms of age and sex. Severity of gingival inflammation measured by the criteria of Löe was higher in the SCN cases (p < 0.05). Moreover, GCF levels of IFN-α, TNF-α, IL-10, IL-13, IL-15, IL-17, IL-2, IL-7, IL-33, IP-10, MIG, MIP-1β were significantly higher in the controls. Decreased cytokine secretion seems to correlate with the decrease in neutrophil counts. The severity of gingival inflammation in SCN patients may be due to the bacterial overgrowth and the change in the content of the oral flora due to the decreased neutrophil counts. Therefore, regular periodontal examinations, the motivation of oral hygiene as well as the compliance with therapy in SCN patients contribute to the periodontal health

A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA Defects

Introduction: Autosomal recessively inherited lipopolysaccharide-responsive beige-like anchor (LRBA) protein deficiency was shown to be responsible for different types of inborn errors of immunity, such as common variable immunodeficiency (CVID) and autoimmune lymphoproliferative syndrome (ALPS). The aim of this study was to compare patients with LRBA-related ALPS and LRBA-related CVID, to describe their clinical and laboratory phenotypes, and to prepare an algorithm for their diagnosis and management. Methods: Fifteen LRBA-deficient patients were identified among 31 CVID and 14 possible ALPS patients with Western blotting (WB), primary immunodeficiency disease (PIDD) gene, next-generation panel screening (NGS), and whole exome sequencing (WES). Results: The median age on admission and age of diagnosis were 7 years (0.3–16.5) and 11 years (5–44), respectively. Splenomegaly was seen in 93.3% (14/15) of the patients on admission. Splenectomy was performed to 1/5. Recurrent upper respiratory tract infections (93.3% (14/15)), autoimmune cytopenia (80% (12/15)), chronic diarrhea (53.3% (8/15)), lower respiratory tract infections (53.3% (8/15)), lymphoma (26.6% (4/15)), Evans syndrome (26.6% (4/15)), and autoimmune thyroiditis (20% (3/15)) were common clinical findings and diseases. Lymphopenia (5/15), intermittant neutropenia (4/15), eosinophilia (4/15), and progressive hypogammaglobulinemia are recorded in given number of patients. Double negative T cells (TCRαβ+CD4−CD8−) were increased in 80% (8/10) of the patients. B cell percentage/numbers were low in 60% (9/15) of the patients on admission. Decreased switched memory B cells, decreased naive and recent thymic emigrant (RTE) Thelper (Th) cells, markedly increased effector memory/effector memory RA+ (TEMRA) Th were documented. Large PD1+ population, increased memory, and enlarged follicular helper T cell population in the CD4+ T cell compartment was seen in one of the patients. Most of the deleterious missense mutations were located in the DUF1088 and BEACH domains. Interestingly, one of the two siblings with the same homozygous LRBA defect did not have any clinical symptom. Hematopoietic stem cell transplantation (HSCT) was performed to 7/15 (46.6%) of the patients. Transplanted patients are alive and well after a median of 2 years (1–3). In total, one patient died from sepsis during adulthood before HSCT. Conclusion: Patients with LRBA deficiency may initially be diagnosed as CVID or ALPS in the clinical practice. Progressive decrease in B cells as well as IgG in ALPS-like patients and addition of IBD symptoms in the follow-up should raise the suspicion for LRBA deficiency. Decreased switched memory B cells, decreased naive and recent thymic emigrant (RTE) Th cells, and markedly increased effector memory/effector memory RA+ Th cells (TEMRA Th) cells are important for the diagnosis of the patients in addition to clinical features. Analysis of protein by either WB or flow cytometry is required when the clinicians come across especially with missense LRBA variants of uncertain significance. High rate of malignancy shows the regulatory T cell’s important role of immune surveillance. HSCT is curative and succesful in patients with HLA-matched family donor