Endoscopic retrograd colangiopancreatography in children: A single center experience

Giriş: Endoskopik retrograde kolanjiopankreatografi (ERCP) endoskopi ile fluoroskopiyi birlikte kullanan pankreas ve safra yolları hastalıklarında tanı ve tedavi imkanı sağlayan işlemdir. Gereç ve Yöntem: Hacettepe Üniversitesi Tıp Fakültesi Gastroenteroloji Endoskopi Ünitesinde Kasım 2017 - Nisan 2020’de ERCP yapılan 46 çocuk hastanın verileri retrospektif incelendi. Bulgular: Yirmi üç hastada biliyer, 23’ünde pankreatik endikasyonla olmak üzere 46 hastaya (29 K, %63,04) toplam 77 (1-5) ERCP işlemi yapıldı. Yaş ortalaması 10,3±4,07 (2,08 -17) yıldı. En küçük hasta 12,6 kg idi. ERCP endikasyonları; 16 hastada koledok taşı şüphesi (%34,8), 9 hastada kronik pankreatit (KP) ve ağrı (%19,6), 8 hastada rekürren akut pankreatit atakları (RAP, %8,7), 4 hastada KP ve RAP (%8,7), 3 hastada karaciğer nakli ve kolestaz (%6,5), 2 hastada benign biliyer darlık (BBD) (%4,3) ve 1 hastada sarılık nedeniyle hastalık ekartasyonu için (%2,2), 1 hastada profilaktik pankreatik stent uygulanması (%2,2), 1 hastada safra yolu ile ilişkili kist hidatik (%2,2) ve 1 hastada pankreas fistülü (%2,2) idi. ERCP’de, 14 (%30,4) KP, 7 (%15.2) koledok kisti, 11 (%23,9) koledok taşı, 4 (%8,7) Oddi sfinkter disfonksiyonu, 3 (%6,5) BBD, 3 (%6,5) anastomoz darlığı, 1 (%2,2) pankreas fistülü, 1 (%2,2) safra yolu ile ilişkili kist hidatik tanıları konuldu. Hastaların 6’sında (%13) anormal pankreatikobiliyer bileşke ve 5’inde (%10.9) pankreas divisium tespit edildi. Hastaların 37’sine (%80,4) endoskopik sfinkterotomi, 10’una (%21,7) dilatasyon yapıldı. 22’sinden (%47,8) taş çıkarıldı ve 27’sine (%58,6) stent takıldı. Pankreatit, kanama, perforasyon gibi major komplikasyon olmadı. Sonuç: Pediyatrik yaş grubunda ERCP’nin deneyimli kişiler tarafından yapıldığı taktirde çocuklarda oldukça güvenilir, etkili bir tanı ve tedavi yöntemidir.Introduction: Endoscopic retrograde cholangiopancreatography (ERCP) is a procedure that uses endoscopy and fluroscopy together to provide diagnosis and treatment in pancreatic and biliary tract diseases. Materials and Methods: The data of 46 pediatric patients who underwent ERCP between November 2017 - April 2020 at Hacettepe University Gastroenterology Endoscopy Unit were retrospectively analyzed. Results: A total of 77 (1-5) ERCP procedures were performed in 46 patients (29 F, 63.04%), 23 with biliary and 23 with pancreatic indications. The mean age was 10.3±4.07 (2.08 -17) years. The smallest patient was 12.6 kg. ERCP indications; suspicion of common bile duct stones in 16 patients (34.8%), chronic pancreatitis (CP) and pain in 9 patients (19.6%), recurrent acute pancreatitis attacks in 8 patients (RAP, 8.7%), CP and RAP in 4 patients (%) 8.7), liver transplantation and cholestasis in 3 patients (6.5%), benign biliary stenosis (BBS) in 2 patients (4.3%) and 1 patient for excluding the disease due to jaundice (2.2%), prophylactic treatment in 1 patient pancreatic stenting (2.2%), biliary tract-related hydatid cyst (2.2%) in 1 patient and pancreatic fistula in 1 patient (2.2%). In ERCP, 14 (30.4%) CP, 7 (15.2%) choledochal cysts, 11 (23.9%) common choledochal stones, 4 (8.7%) sphincter dysfunction of Oddi, 3 (6.5%) BBS, 3 (6.5%) anastomotic stenosis, 1 (2.2%) pancreatic fistula, 1 (2.2%) biliary tract-related hydatid cyst were diagnosed. Abnormal pancreaticobiliary junction was detected in 6 (13%) patients and pancreatic divisium was detected in 5 (10.9%) patients. Endoscopic sphincterotomy was performed in 37 (80.4%) patients, and dilatation was performed in 10 (21.7%) patients. Stones were removed in 22 (47.8%) and stent was placed on 27 (58.6%). There were no major complications such as pancreatitis, bleeding or perforation. Conclusion: If ERCP is performed by experienced people in the pediatric age group, it is a very reliable and effective diagnosis and treatment method in children

IGF-1 and GH alterations in lambs with intestinal inflammation

Insulin-like growth factor-1 (IGF-1) acts on the development of internal organs such as the small intestine and muscle in all animal species. Similar to IGF-1, GH is also essential for growth and is an effective hormone on intestinal development during neonatal period. The aim of this study was to investigate the effects of diarrhea on IGF-1 and GH hormones in lambs with intestinal inflammation up to 63 days of age. The study material consisted of 15 healthy and 15 diarrheic lambs. Blood and fecal samples were collected on the first day of life and on the 7th, 14th, 21st, 35th, 49th and 63rd postnatal days consecutively. Diarrhea was observed on 6 animals on the 7th day and 9 animals on 14th day visitation. IGF-1 showed statistically significant differences (P < 0.01) between diarrheic and healthy animals on all measurement days. A significant association was found between the cut-off values determined after ROC analysis of the 7th day (Sens: 93.33%, Spec: 66.67%, P = 0.004) and 14th day (Sens: 73.33%, Spec: 80%, P = 0.0002) values of IGF-1 and diarrhea. Considering 14th day of IGF-1, a logistic regression analysis was performed, the risk of diarrhea is OR = 7.00 times higher if the concentration of the parameter is above the cut-off value. ROC analysis also showed significant cut-off values for GH on 14th day. In terms of sensitivity, the highest value was IGF-1's 7th day value, therefore it can be preferred for the determination of intestinal inflammation in cases with diarrhea. As a general evaluation, it is seen that the highest performance was given by the 7th day IGF-1 values according to the Youden's J index. In conclusion, elevations in IGF-1 and GH concentrations may be associated with intestinal inflammation. The inducing effect of the inflammatory response on IGF-I and GH may strengthen the relationship between the two parameters

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

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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