Severe rhabdomyolysis and acute renal failure in an adolescent with hypothyroidism

Hypothyroidism has been reported rarely as the cause of rhabdomyolysis in adults and children. We present here a non-compliant adolescent with a diagnosis of hypothyroidism who developed rhabdomyolysis and acute renal failure with no additional predisposing factor. A 13-year-old girl with a previous history of hypothyroidism due to thyroid hypoplasia presented with generalized myalgia, malaise, vomiting, and oliguria lasting for three days. Neurological examination revealed bilateral marked weakness and tenderness of muscles of both lower and upper extremities. Urine had bloody appearance and urine analysis showed blood reaction with dipstick test, but there were no erythrocytes on microscopic examination. Serum creatine phosphokinase and myoglobin levels were elevated. Thyroid stimulating hormone (TSH) levels were high, and free thyroxine (T4) and triiodothyronine (T3) levels were low, compatible with uncontrolled hypothyroidism. Renal function tests showed acute renal failure. Other causes of rhabdomyolysis such as muscular trauma, drugs, toxins, infections, vigorous exercise, and electrolyte abnormalities were excluded. Hemodialysis was administered for 24 sessions. After L-thyroxine therapy, thyroid function tests normalized, muscle strength improved, serum muscle enzyme levels returned to normal levels, and renal function tests recovered. One must be aware that rhabdomyolysis may develop in a non-compliant patient with hypothyroidism

Atypical hemolytic uremic syndrome due to factor H autoantibody

Atypical hemolytic uremic syndrome (aHUS) is a disease caused by pathologies in the alternative complement system. The prevalence of aHUS is 10% of all aHUS cases. The subgroup of aHUS designated as DEAP (DEficiency of CFHR Proteins and CFH Autoantibody Positive)-HUS because of autoantibody to complement factor H (CFH) and CFH-related protein deficiency is seen very rarely, and the prevalence is 6% of all aHUS cases in the literature. We present here a female patient with DEAP-HUS. A 7.5-year-old girl with recurrent attacks of HUS had low C3 level. We initiated plasmapheresis treatment. After further analysis of the complement system, the result was compatible with DEAP-HUS, so we initiated immunosuppressive treatment. There were also family members with deficiency of CFHR-1 and CFHR-3, but they had no CFH autoantibody and no symptoms of HUS. In atypical cases of HUS, we should investigate complement status, especially for factor H autoantibody, for which treatment options differ from those of the other types of aHUS

Renal function and linear growth of children with nephrocalcinosis: a retrospective single-center study

The aim of this study was to analyze the etiology of nephrocalcinosis (NC) and whether it has any effect on growth and renal function in children. Forty-three children who were diagnosed with bilateral NC were studied retrospectively. Two neonates treated with furosemide and five premature infants were excluded from the study. The most common condition leading to NC was hereditary tubulopathies (50%). Data of 27 children who had a follow-up period of at least two years were examined in more detail. Of the 27 patients, the median age at first examination was 12 (range: 2-132) months and median follow-up time was 57 (range: 24-209) months. Thirteen of 27 (48.1%) patients had height standard deviation scores (hSDS

Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: roles of parental consanguinity and assortative mating

Considerable differences exist for the spectrum of GJB2 mutations in different populations. Screening for the c.35delG mutation in 256 independent probands, 154 multiplex (familial) and 102 simplex (sporadic), coming from different regions of Turkey revealed 37 (14.5%) homozygotes. The allele frequency of c.35delG ranged from 5% to 53% in different cities. Parental consanguinity was noted in 34% of c.35delG homozygotes, yet it was 55% in c.35delG negatives (p=0.034). Further screening for GJB2 mutations in multiplex families demonstrated the presence of c.167delT and L90P mutations as well as a novel complex mutation, c.236_239delTGCAinsAGATCCG, in single alleles, leading to compound heterozygosity with c.35delG. The homozygous E120del mutation was found in another case. The V27I polymorphism was detected in five alleles, one of which was associated with the E114G change. Assortative mating was a significant factor predicting to detect biallelic mutations in the GJB2 gene. These results confirm the overwhelming majority of c.35delG in the Turkish deaf individuals as well as the presence of other changes detected in Caucasian and Asian populations

P1802EVALUATION OF THE GENETICAL FEATURES AFFECTING THE RENAL OUTCOMES IN CHILDREN WITH STEROID RESISTANT NEPHROTIC SYNDROME

Abstract Background and Aims Nephrotic syndrome in childhood is characterized by proteinuria, hypoalbuminemia, edema, and hyperlipidemia. Although most children respond to glucocorticoid therapy, approximately 10% of patients turn out to be steroid resistant (steroid-resistant nephrotic syndrome [SRNS]). Although several studies in children with SRNS have shown that mutations in genes encoding proteins in the podocyte skeleton may be responsible for the etiology in only one-third of cases, the genetic features related with renal prognosis and response to immunosuppressive agents are not fully recognized. The aim of this study was to investigate the genomic alterations associated with renal prognosis and resistance to immunosuppression in children with SRNS. Method The children with SRNS were enrolled in this study. Custom gene panel was designed for next-generation sequencing analysis of more than 20 target genes (ABCB1, ABCC2, CTLA4, CYP2C8, CYP2C9, CYP2C19, CYP2D6, CYP3A4, CYP3A5, FOXP3, GSTP1, IMPDH1, IMPDH2, NOS3, NR3C1, SLCO1B1, SLCO1B3, TPMT, UGT1A9, UGT2B7) and 200 single nucleotide variants (SNVs) which were reported as implicated in renal prognosis of nephrotic syndrome. The target gene panel was enriched for drug metabolism regulating transporters and enzymes. Results A total of 25 children, 16 boys (64%), median age at last visit 17.5 years (13-18 years), median age at diagnosis 7.5 years (2-15), median follow-up 9.58±4.54 years, were included in the study. All patients were diagnosed focal segmental glomerulosclerosis on renal biopsy. </jats:sec

Vulnerability Prediction from Source Code Using Machine Learning

As the role of information and communication technologies gradually increases in our lives, software security becomes a major issue to provide protection against malicious attempts and to avoid ending up with noncompensable damages to the system. With the advent of data-driven techniques, there is now a growing interest in how to leverage machine learning (ML) as a software assurance method to build trustworthy software systems. In this study, we examine how to predict software vulnerabilities from source code by employing ML prior to their release. To this end, we develop a source code representation method that enables us to perform intelligent analysis on the Abstract Syntax Tree (AST) form of source code and then investigate whether ML can distinguish vulnerable and nonvulnerable code fragments. To make a comprehensive performance evaluation, we use a public dataset that contains a large amount of function-level real source code parts mined from open-source projects and carefully labeled according to the type of vulnerability if they have any.We show the effectiveness of our proposed method for vulnerability prediction from source code by carrying out exhaustive and realistic experiments under different regimes in comparison with state-of-art methods