AP-1-dependent fibrosis: Exploring its potential role in the pathogenesis of placental transmogrification of the lung (PTL) via tissue-level transcriptome analysis.

Placental transmogrification of the lung (PTL) is a rare pulmonary condition characterized by the presence of immature placental villous structures. The etiology and molecular mechanisms underlying this disease remain largely unknown. This functional study aimed to identify the molecular signatures in the pathogenesis of PTL via comprehensive transcriptome analysis.

Live imaging of microglia during sleeping sickness reveals early and heterogeneous inflammatory responses.

Introduction: Invasion of the central nervous system (CNS) is the most serious consequence of infection, which causes sleeping sickness. Recent experimental data have revealed some more insights into the disease during the meningoencephalitic stage. However, detailed cellular processes befalling the CNS during the disease are poorly understood.

Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review.

Congenital diarrheal disorders (CDDs) with genetic etiology are uncommon hereditary intestinal diseases characterized by chronic, life-threatening, intractable watery diarrhea that starts in infancy. CDDs can be mechanistically divided into osmotic and secretory diarrhea. Congenital tufting enteropathy (CTE), also known as intestinal epithelial dysplasia, is a type of secretory CDD.

Glomerulonephritis with crescents in childhood; etiologies and significance of M2 macrophages.

Background: Crescentic glomerulonephritis (CGN) is a rapidly progressive and rare cause of glomerulonephritis in childhood. The aim of this study is to evaluate demographic data of children with crescentic glomerulonephritis, to classify the etiologies and to investigate the correlation between the severity of kidney disease and the expression of CD163+ macrophages.

Methods: Between the years 2000 and 2016 in a single center, patients under 18 years of age with kidney biopsies containing crescents were included in the study.

Fetal Mediastinal Fibrosarcoma. Report of Two Cases.

One-third of fetal soft tissue tumors are malignant and include congenital fibrosarcoma (CF). We report two fetal CFs arising in the posterior mediastinum. In case 1, the CF resulted in a mediastinal shift, extensive infiltration of the tumor around adjacent structures, pulmonary hypoplasia, pleural effusion, and rapid growth.

A very rare cause of protein losing enteropathy: Gaucher disease.

Background: Mesenteric lymphadenopathy is a rare manifestation of Gaucher disease (GD) in children and can be accompanied by protein losing enteropathy (PLE). PLE is a difficult-to-treat complication of GD. To date, only a few pediatric GD cases with PLE and massive mesenteric lymphadenopathies have been reported.

Inflammatory milieu of muscle biopsies in juvenile dermatomyositis.

Juvenile dermatomyositis (JDM) is an inflammatory myopathy which causes severe morbidity and high mortality if untreated. In this study, we aimed to define the T-helper cell profile in the muscle biopsies of JDM patients. Muscle biopsies of twenty-six patients (50% female) were included in the study.

Giant Right Atrial Myxoma with Fulminant Progression in an Infant.

Cardiac myxoma is rare in children. Myxomas are exceedingly rare in infancy. Right atrial myxomas were recorded in a small number of case reports involving infants worldwide.

BK virus associated nephropathy and severe pneumonia in a kidney transplanted adolescent with Schimke immuneosseous- dysplasia.

Düzova A, Gülhan B, Topaloğlu R, Özaltın F, Cengiz AB, Yetimakman AF, Doğru D, Güçer Ş, Beşbaş N. BK virus associated nephropathy and severe pneumonia in a kidney transplanted adolescent with Schimke immune-osseous-dysplasia. Turk J Pediatr 2019; 61: 111-116.

Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing.

Introduction: Sengers syndrome is an autosomal recessive disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy and lactic acidosis. The causative mutations have been identified with whole exome sequencing.

Clinical Report: We report on a 9-month-old infant with episodic lactic acidosis who died before a definitive diagnosis could be established.

Response to Early Coenzyme Q10 Supplementation Is not Sustained in CoQ10 Deficiency Caused by CoQ2 Mutation.

Background: COQ2 mutations cause a rare infantile multisystemic disease with heterogeneous clinical features. Promising results have been reported in response to Coenzyme Q10 treatment, especially for kidney involvement, but little is known about the long-term outcomes.

Methods: We report four new patients from two families with the c.

Manganese tolerance in Verbascum olympicum Boiss. affecting elemental uptake and distribution: changes in nicotinic acid levels under stress conditions.

A multielemental determination methodology in conjunction with an organic acid analysis that were supplemented with other stress parameters and an ultrastructural analysis used herein to study Verbascum olympicum Boiss. (Scrophulariaceae) under Mn stress. Uptake and accumulation characteristics of B, Cu, Fe, Mn, Mo, and Zn were evaluated in 8-week-old seedlings grown in Hoagland's nutrient solution and exposed to 5 (CK), 50, and 200 μM MnSO for 7 days.

Are Congenital Urinary Tract Abnormalities Linked to Maternal Methylenetetrahydrofolate Reductase Polymorphisms in Fetuses of Intentionally Terminated Pregnancies with Oligo- or Anhydramnios ?

Objective: We aimed to evaluate fetuses of terminated pregnancies with oligo-or anhydramnios (OAH) to further investigate the association between maternal methylenetetrahydrofolate reductase (MTHFR) polymorphisms and fetal urinary tract malformations.

Materials And Methods: This retrospective study included 16 pregnancies with OAH (with normal fetal karyotype) that were intentionally terminated before 22nd gestational week. Fetal autopsy was performed in all cases.

Non-immune hydrops fetalis: A retrospective analysis of 151 autopsies performed at a single center.

Kaykı G, Güçer Ş, Akçören Z, Orhan D, Talim B, Yurdakök M, Yiğit Ş, Boduroğlu OK, Utine GE, Örgül G, Beksac MS. Non-immune hydrops fetalis: A retrospective analysis of 151 autopsies performed at a single center. Turk J Pediatr 2018; 60: 471-477.

Coexistence of Trisomy 13 and SRY (-) XX Ovotesticular Disorder of Sex Development.

Introduction: Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both testicular and ovarian tissue in an individual and the majority of cases have been reported with 46,XX karyotype. In 46,XX cases, testicular differentiation may occur due to the translocation of SRY to the X chromosome or to an autosome.

Case Report: Herein, we present a female newborn with a combination of trisomy 13 and SRY (-) XX OT-DSD.

Correlation of lithium bioaccessibility from tea (Camellia sinensis L.) with tea type and consumption habits.

In this study, the total contents, leachability into tea infusions, and bioaccessibility of lithium from black, Earl Grey, and green teas were evaluated by inductively coupled plasma mass spectrometry. Leachabilities were evaluated after infusion for 2, 5, or 10min. Bioaccessibility was determined in vitro under simulated stomach and intestinal digestion conditions.

A probable new syndrome with the storage disease phenotype caused by the VPS33A gene mutation.

We present a novel multisystem disease in two siblings with clinical features resembling a lysosomal storage disease. These included coarse face, dysostosis multiplex, respiratory difficulty, proteinuria with glomerular foamy cells, neurological involvement with developmental delays, pyramidal signs, and severe chronic anemia. Detailed enzymatic analysis for lysosomal diseases and whole-exome sequencing studies excluded known lysosomal storage diseases in the proband.

Elemental Composition of Plant Species from an Abandoned Tungsten Mining Area: Are They Useful for Biogeochemical Exploration and/or Phytoremediation Purposes?

We aimed to evaluate the elemental (W, Mo, Zn, Fe, Cu, Co, Bi, Mn, Cd, Cr, As) composition of some plant species spread around the abandoned tungsten mining area of Uludağ Mountain. The plant species tested were Anthemis cretica and Trisetum flavescens which are grown in this area and they are pioneer species on these contaminated sites. W levels in soils were found up to 1378.

Elemental composition of Marrubium astracanicum Jacq. growing in tungsten-contaminated sites.

This study evaluates the elemental (W, Mo, Zn, Fe, Cu, Cd, Mn, Pb, Cr, Co, B, and Bi) composition of Marrubium astracanicum Jacq. (Lamiaceae), around the abandoned tungsten mine on Uludağ Mountain, Turkey, to determine if it is an appropriate candidate for phytomonitoring and/or phytoremediation purposes. Three sample sites were selected around the mine for soil and plant sampling.

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.

Multiple acyl-CoA dehydrogenase deficiencies (MADDs) are a heterogeneous group of metabolic disorders with combined respiratory-chain deficiency and a neuromuscular phenotype. Despite recent advances in understanding the genetic basis of MADD, a number of cases remain unexplained. Here, we report clinically relevant variants in FLAD1, which encodes FAD synthase (FADS), as the cause of MADD and respiratory-chain dysfunction in nine individuals recruited from metabolic centers in six countries.