Ursodeoxycholic acid had additive effect with phototherapy in neonates with indirect hyperbilirubinemia. This drug also reduced the time period needed for phototherapy and, consequently, decreased the hospitalization period.

Introduction Fibroblast activation protein (FAP) is a member of the serine protease family and has a high expression in the stroma of approximately 90% of epithelial malignancies. The present investigation aimed to assess the feasibility, safety, and dosimetry data of 177Lu-FAPI-46 in diverse malignancies. Patients and Methods Patients with advanced cancers with nonoperable tumors, or tumors refractory to conventional therapies, were enrolled. Treatment included escalating doses of 177Lu-FAPI-46 (1.85–4.44 GBq) per cycle using a combination of clinical and statistical expertise design, and intervals of 4 to 6 weeks were considered between the cycles. Biodistribution and dosimetry were examined by whole-body scans. We applied the National Cancer Institute Common Terminology Criteria for Adverse Events version 4.03 to measure peptide-targeted radionuclide therapy (PTRT)–associated toxicity. Results A total of 21 patients (11 females and 10 males) with a median age of 50 years (range, 6–79 years) were investigated. Of 21 participants, 18 cases were selected for PTRT. Overall, 36 PTRT cycles were performed. The median number of PTRT cycles and the median injected amount of activity in each cycle were 2 and 3.7 GBq, respectively. The dosimetric analysis revealed median absorbed doses of 0.026, 0.136, 0.886, and 0.02 with ranges of 0.023–0.034, 0.001–0.2, 0.076–1.39, and 0.002–0.2 mGy/MBq for the whole body, liver, kidneys, and spleen, respectively. The therapy was well tolerated in almost all patients. Conclusions The findings of this preliminary investigation might indicate the potential feasibility and safety of PTRT using 177Lu-FAPI-46 for different aggressive tumors. Moreover, the current study could be beneficial in determining the suitable amount of activity for a phase 2 study.

-Background -Helicobacter pylori infection is the gram negative bacillus with the close association with chronic antral gastritis. Objective -In this study, we evaluate the accuracy of urea breath test (UBT) with carbon isotope 13 in comparison with histopathology of gastric antrum for detection of H. pylori infection in children with dyspepsia. Methods -This cross-sectional study was performed at specialized laboratory of Shiraz Gastroenterohepatology Research Center and Nemazee Hospital, Iran, during a 12-months period. This study investigated the sensitivity, specificity, and positive and negative predictive values of UBT in comparison with biopsy-based tests. We included a consecutive selection of 60 children who fulfilled Rome III criteria for dyspepsia. All children were referred for performing UBT with carbon isotope 13 (C13) as well as endoscopy. Biopsies were taken from antrum of stomach and duodenum. The pathologic diagnosis was considered as the standard test. Results -The mean age of the participants was 10.1±2.6 (range 7-17 years). From our total 60 patients, 28 (46.7%) had positive UBT results and 32 (53.3%) had negative UBT results. Pathologic report of 16 (57.1%) out of 28 patients who had positive UBT were positive for H. pylori and 12 (42.9%) ones were negative. Sensitivity and specificity of C13-UBT for detection of H. pylori infection were 76.2% and 69.2% respectively. Conclusion -Sensitivity and specificity of C13-UBT for detection of H. pylori infection were 76.2% and 69.2% respectively. Another multicenter study from our country is recommended. HEADINGS -Child health. Dyspepsia. Gastritis. Helicobacter infections. Peptic ulcer. Urease.

ABSTRACT

Background Fanconi anemia (FA) is a heterogeneous genetic disorder characterized by congenital anomalies, early-onset bone marrow failure, and a high predisposition to cancers. Up to know, different genes involved in the DNA repair pathway, mainly FANCA genes, have been identified to be affected in patients with FA. Case presentation Here, we report clinical, laboratory and genetic findings in a 3.5-year-old Iranian female patient, a product of a consanguineous marriage, who was suspicious of FA, observed with short stature, microcephaly, skin hyperpigmentation, anemia, thrombocytopenia and hypo cellular bone marrow. Therefore, Next Generation Sequencing was performed to identify the genetic cause of the disease in this patient. Results revealed a novel, private, homozygous frameshift mutation in the FANCF gene (NM_022725: c. 534delG, p. G178 fs) which was confirmed by Sanger sequencing in the proband. Conclusion Such studies may help uncover the exact pathomechanisms of this disorder and establish the genotype-phenotype correlations by identification of more mutations in this gene. It is the first report of a mutation in the FANCF gene in Iranian patients with Fanconi anemia. This new mutation correlates with a hematological problem (pancytopenia), short stature, and microcephaly and skin hyperpigmentation. Until now, no evidence of malignancy was detected. Electronic supplementary material The online version of this article (10.1186/s12881-019-0855-2) contains supplementary material, which is available to authorized users.

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Cytomegalovirus (CMV) retinitis is one of the rare but debilitating presentations of the CMV infection in children with leukemia. Herein, we report a 12-year-old boy with acute myeloid leukemia complicated by rapid progressive visual loss during relapse of leukemia. The definite diagnosis of CMV retinitis was made after vitreous aspiration. Despite prompt treatment and ophthalmologic intervention, he died because of AML relapse. Viral infections, especially cytomegalovirus infection, may present with vague clinical pictures during any time of chemotherapy, which may not be easily distinguishable from bacterial or fungal retinitis and also chemotherapy-induced retinopathies. Clinician should consider CMV retinitis in seropositive patients especially those without detectable viremia.

The IFAP syndrome is a rare X-linked recessive inheritance disorder with defect of the MBTPS2 gene defined by the triad of follicular ichthyosis, alopecia, and photophobia. A total of 40 cases has been reported, but no correlation with Hodgkin lymphoma has been reported yet. A 3.5-year-old boy was diagnosed with IFAP syndrome confirmed by Next Generation Sequencing. He was on regular follow-up when he developed prolonged fever and lymphadenopathy. His lymph node biopsy showed Hodgkin lymphoma with mixed cellularity subtype. This case is the first report on IFAP syndrome associated with malignancy. IFAP syndrome could be a risk factor in developing malignancy.