A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome

Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of ESRD in the first two decades of life. Effective treatment is lacking. First insights into disease mechanisms came from identification of single-gene causes of SRNS. However, the frequency of single-gene causation and its age distribution in large cohorts are unknown. We performed exon sequencing of NPHS2 and WT1 for 1783 unrelated, international families with SRNS. We then examined all patients by microfluidic multiplex PCR and next-generation sequencing for all 27 genes known to cause SRNS if mutated. We detected a single-gene cause in 29.5% (526 of 1783) of families with SRNS that manifested before 25 years of age. The fraction of families in whom a single-gene cause was identified inversely correlated with age of onset. Within clinically relevant age groups, the fraction of families with detection of the single-gene cause was as follows: onset in the first 3 months of life (69.4%), between 4 and 12 months old (49.7%), between 1 and 6 years old (25.3%), between 7 and 12 years old (17.8%), and between 13 and 18 years old (10.8%). For PLCE1, specific mutations correlated with age of onset. Notably, 1% of individuals carried mutations in genes that function within the coenzyme Q10 biosynthesis pathway, suggesting that SRNS may be treatable in these individuals. Our study results should facilitate molecular genetic diagnostics of SRNS, etiologic classification for therapeutic studies, generation of genotype-phenotype correlations, and the identification of individuals in whom a targeted treatment for SRNS may be available

Recent developments in chemical reactivity of N,N-dimethylenamino ketones as synthons for various heterocycles

The current review presents recent progress in the utility of N,N-dimethyl enaminones as building blocks for a diverse range of acyclic, carbocyclic, five- and six-membered heterocyclic a broad range of heterocyclic and fused heterocyclic derivatives. Most importantly, these N,N-dimethyl analogues have proven to be of biological interest and provide an access to new class of biologically active heterocyclic compounds for biomedical applications. All of these topics are drawn from the recent literature till 2016

Vesicoureteric reflux in children

Aim: This study aimed to identify the differences between primary and secondary vesicoureteric reflux (VUR) and the effect of associated bladder abnormalities on kidney function. Patients and Methods: We retrospectively reviewed the medical records of children with VUR who were followed up at King Abdulaziz University Hospital from January 2005 to December 2010. The review included results of radiological investigations and kidney function tests. We used Chi-square test for statistical analysis and paired t-test to compare group means for initial and last creatinine levels. Results: Ninety-nine children were included in this study. Twenty (20.2%) had primary VUR, 11 had high-grade VUR, while 9 had low-grade reflux. All children with low-grade VUR had normal dimercaptosuccinic acid (DMSA). Renal scars were present in 72% of the children with high-grade VUR. The mean creatinine levels (initial and last) for both groups were normal. Seventy-nine (79.8%) children had secondary VUR, which was due to posterior urethral valves (PUV) (46.8%), neurogenic bladder caused by meningomyelocele (25.3%), non-neurogenic neurogenic bladder (NNB) (21.5%), or neurogenic bladder associated with prune belly syndrome (6.3%). Children with NNB, meningomyelocele and PUV had high creatinine at presentation with no considerable worsening of their kidney functions during the last visit. Renal scars were present in 49.4% of the children with secondary VUR. Conclusion: Children with primary VUR and normal bladder had good-functioning kidneys, while those with secondary VUR associated with abnormal bladder caused by NNB, spina bifida or PUV had abnormal kidney functions. DMSA scans were useful in predicting higher grades of VUR in children with primary reflux

Predictors of renal replacement therapy and mortality in children with chronic kidney disease

Objectives: To study the epidemiology of chronic kidney disease (CKD) in children, and to look for risk factors to predict renal replacement therapy (RRT) and mortality. Methods: This is a retrospective cohort study conducted at King Abdulaziz University Hospital, Jeddah, Saudi Arabia between 2006 and 2014, where the files of 1,000 children with CKD were reviewed. We determined the effect of consanguinity and hypertension, and being a Saudi indigene on mortality and RRT. We compared children with congenital versus non-congenital causes of CKD. Results: The mean±standard deviation age at presentation was 4.9±4.3 years. The median duration of follow up was 1.5 (interquartile range [IQR]: 0.4-4.0) years. Only 9.7% of children received RRT, and 8.3% died. The underlying etiology for CKD was congenital in 537 children. The congenital CKD group presented at a younger age group (3.5±4.0 versus 6.6±3.9 years, p<0.0001), had more advanced stages of CKD (p<0.0001), higher rates of consanguinity (75.4% versus 47.1%, p<0.0001), and RRT (p<0.004) than children with non-congenital CKD. Risk factors for RRT among children with CKD include being a Saudi indigene (relative risk [RR]=1.49, 95% confidence interval (CI): 1.01-2.21), and hypertensive (RR=5.29, 95% CI: 3.54-7.91). The risk factor for mortality was hypertension (RR=2.46, 95% CI: 1.66-3.65). Conclusion: Congenital causes of CKD represent the main etiology of CKD in children living in the western province of Saudi Arabia. Significant risk factors for RRT include congenital CKD, Saudi nationality, and hypertension. Hypertension is also a predictor of mortality in children with CKD

Impact of DEMs for Improvement Sentinel 2 Lithological Mapping Utilizing Support Vector Machine: A Case Study of Mineralized Fe-Ti-Rich Gabbroic Rocks from the South Eastern Desert of Egypt

Fused remote sensing datasets have greatly contributed to enhancing lithological targets and providing significant information for mineral exploration. For instance, multispectral datasets can discriminate rock units through their unique spectral signatures. Digital Elevation Models (DEMs) could be an effective tool boosting lithological discrimination based mainly on their topographic variations. Consequently, the current study applied the power of the support vector machine (SVM) algorithm and the integrated Phased Array L-type band Synthetic Aperture Radar (PALSAR) DEM and multispectral Sentinel 2 data to: 1—Create an updated lithological map of a poorly mapped arid terrain (Khashir-Ras El-Kharit district, Eastern Desert of Egypt), and 2—Compare and assess the distribution of ferrogabbros with the aim of improving the localization of these rock bodies and investigating their mineral content. Our results enhanced the lithological mapping and revealed a better generalization of mineralized ferrogabbros when the input was a fused DEM with Sentinel 2 compared to the salt and pepper effect observed when adopting the Sentinel 2 solely as the input data. Additionally, the current research strongly recommends detailed exploration programs for Fe-Ti oxide ores within the gabbroic rocks delineated through the resultant thematic map. The ferrogabbros were subjected to a comprehensive analysis involving whole rock geochemistry, XRD, EDX, and light-reflecting investigations, which revealed the existence of magnetite, titanomagnetite, and hematite. The titanomagnetite crystals display subhedral morphology and exhibit fine- to medium-grained surfaces with irregular shapes. X-ray diffraction (XRD) analysis revealed the presence of magnetite and hematite in the concentrated Fe-Ti oxides. Additionally, the whole rock geochemistry highlighted the origin of the ferrogabbros and their proposed tectonic setting as an alkaline to calc-alkaline magma type that developed in a continental arc setting

Multiscale mineralogical investigations for mineral potentiality mapping of Ras El-Kharit-Wadi Khashir district, Southern Eastern Desert, Egypt

Through various scales of observation, ranging from remote sensing data, field investigations, hand specimens, microscopic petrographic examinations, XRD, to SEM, indicators of various mineralization types are highlighted in Ras El-kharit-wadi Khashir (Eastern Desert, Egypt). Systematic remote sensing exploration of the mineralized zones is performed through integrating Sentinel 2 and ASTER datasets. False-color combinations, informative band ratios, relative absorption band depth, and CEM techniques were applied to discriminate rock units and various types of hydrothermal alterations. Moreover, ALOS PALSAR DEM was utilized to decipher the structural lineaments. Intensive field investigations confirmed hydrothermally altered zones that were picked out through remote sensing analysis and revealed that the study area is affected by cataclastic metamorphism to some extent. Magmatic and metamorphic rock types are represented by propylitic, phyllic, argillic, and silicification zones. Sericitization, chloritization, epidotization, kaolinitization, carbonatization, and silicification are recorded utilizing petrographic and remote sensing investigations. Moreover, the current study reveals that the detected alteration is the main reason for the apparent wide range of petrographic characteristics of each rock type and bearing several opaque minerals, such as pyrite, magnetite, titanomagnetite, chalcopyrite, arsenopyrite, covellite, galena, goethite, and hematite. Most of these opaques were identified using ore microscopy, XRD, and SEM. The distribution of hydrothermal alterations, representative samples bearing mineralization, structurally dissected zones are integrated to build a mineral potentiality map of the study area. The resultant MPM was confirmed via field survey and emphasized the usefulness of the current integrated approach besides highlighting about 125 km2 as potential mineralized zones

A Rare Benign Tumor in a 14-Year-Old Girl

Background. Oncocytomas are the second most common benign renal neoplasm but, unfortunately, they are difficult to differentiate from renal cell carcinoma. Renal oncocytomas are rare and have mostly been reported in adults. To our knowledge, this is only the sixth pediatric reported case of renal oncocytoma worldwide. Case Presentation. A 14-year-old Yemeni girl with a recurrent history of urinary tract infections came to our clinic complaining of left flank pain with a frontal headache. Ultrasound showed a 3 cm, well-defined echogenic lesion with mild vascularity. This lesion increased in size on her subsequent follow-ups. Computed tomography showed no intralesional fat, vessels invasion, or enlarged lymph nodes. The patient underwent laparoscopic radical nephrectomy, and a pathology report confirmed the diagnosis of renal oncocytoma. Conclusion and Recommendations. We present the rare occurrence of renal oncocytoma in a pediatric patient and highlight the importance of considering oncocytomas in the diagnosis of a renal mass

A case of urinary bladder agenesis and bilateral ectopic ureters: a case report

Abstract Background Urinary bladder agenesis is a very rare congenital anomaly with very few cases reported in the literature. Case presentation We report a one-month-old baby presenting with ambiguous genitalia and recurrent urinary tract infections. Her clinical course was complicated by renal impairment. Magnetic resonant imaging (MRI) revealed a diagnosis of bladder agenesis with bilateral ectopic insertion of the ureters into the vagina, associated with several other anomalies. The patient underwent bilateral high anterior ureterostomies in an hospital abroad at 5.5 months of age. She then developed ureteral necrosis that had to be corrected with left pyeloplasty and by placing a left nephrostomy tube for drainage. Eventually, the patient’s renal function declined, and she developed chronic kidney disease (CKD).The case with its imaging findings and pathogenesis as well as a review of the literature are presented. Conclusions Urinary bladder agenesis is a rare congenital condition that can be associated with multiple anomalies. Early diagnosis and therapeutic intervention can prevent progression to chronic kidney disease