Posterior urethral valves: 10 years audit of epidemiologic, diagnostic and therapeutic aspects in Yaoundé gynaeco-obstetric and paediatric hospital

Tambo, F.F. Mouafo; Tolefac, Paul Nkemtendong; Ngowe, Marcelin Ngowe; Minkande, Jacqueline Zé; Mbouché, Landry; Guemkam, Georgette; Telelen, Neville Alemnju; Angwafo, Fru; Sosso, Aurelien Maurice

doi:10.1186/s12894-018-0364-1

Cited by 24 publications

(26 citation statements)

References 17 publications

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“…This highlights the importance of performing ultrasound scanning for neonates with AKI to avoid missing congenital abnormalities most of which if not properly managed, are known to result in end stage renal failure in the first decade of life requiring renal replacement therapy including kidney transplantation. [14,17,18] Congenital abnormalities, hypoxia, infections, nephrotoxic medications, dehydration, and prematurity are known to contribute to AKI among neonates. [4,5,19].…”

Section: Discussionmentioning

confidence: 99%

Acute kidney injury among critically ill neonates in a tertiary hospital in Tanzania; Prevalence, risk factors and outcome

2020

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Background Neonatal acute kidney injury contributes to high mortality in developing countries. The burden of neonatal AKI is not known in Tanzania despite having high neonatal mortality. This study was conducted to determine the burden of AKI among critically ill neonates admitted at Muhimbili National Hospital. Methods This was a cross-sectional study conducted in the neonatal ward at the MNH. Eligible critically ill neonates were recruited consecutively between October 2017 and March 2018. Data was collected using a standardized structured questionnaire. Blood specimen was drawn to measure baseline creatinine at admission, 48 th hour, 72 nd hour and 14 th day. Data was analysed using SPSS version 20.0 Univariate analysis was done using chi-square to determine the association between categorical variables and multivariate logistic regression was performed to determine predictors of AKI. Results A total of 378 critically ill neonates were recruited, 31.5% had AKI and independent predictors of AKI were noted to be neonatal sepsis (aOR 2.237, 95%CI 1.3-3.6, P = 0.001), severe pneumonia (aOR3.0, 95%CI 1.0-9.3, P = 0.047) and use of gentamycin (aOR6.8, 95%CI 1.3-9.3, P = 0.02). Complete resolution of renal dysfunction at the fourteenth day was seen in 83.1% of the neonates while 16.9% had persistence of renal dysfunction. Ultrasound scan were performed among 105 participants with AKI revealed increased echogenicity, mild hydronephrosis and ectopic kidneys in 25 (23.8%), 4 (3.8%) and 2 (1.9%) respectively. In-hospital mortality was significantly higher among neonates with AKI (70.6%) as compared to those without (29.4%) p< 0.001.

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Section: Discussionmentioning

confidence: 99%

Acute kidney injury among critically ill neonates in a tertiary hospital in Tanzania; Prevalence, risk factors and outcome

2020

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“…Rare renal disease (PUV z ) 1/5000-8000 births [137] • Prediction of post-natal prognosis in patients using peptidomics and metabolomics [138]. activity and inactivity data [151].…”

Section: Triglyceride Deposit Cardiomyovasculopathy Unknownmentioning

confidence: 99%

A scoping review and proposed workflow for multi-omic rare disease research

Kerr¹,

McAneney²,

Smyth³

et al. 2020

Orphanet J Rare Dis

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Background: Patients with rare diseases face unique challenges in obtaining a diagnosis, appropriate medical care and access to support services. Whole genome and exome sequencing have increased identification of causal variants compared to single gene testing alone, with diagnostic rates of approximately 50% for inherited diseases, however integrated multi-omic analysis may further increase diagnostic yield. Additionally, multi-omic analysis can aid the explanation of genotypic and phenotypic heterogeneity, which may not be evident from single omic analyses. Main body: This scoping review took a systematic approach to comprehensively search the electronic databases MEDLINE, EMBASE, PubMed, Web of Science, Scopus, Google Scholar, and the grey literature databases OpenGrey / GreyLit for journal articles pertaining to multi-omics and rare disease, written in English and published prior to the 30th December 2018. Additionally, The Cancer Genome Atlas publications were searched for relevant studies and forward citation searching / screening of reference lists was performed to identify further eligible articles. Following title, abstract and full text screening, 66 articles were found to be eligible for inclusion in this review. Of these 42 (64%) were studies of multi-omics and rare cancer, two (3%) were studies of multi-omics and a pre-cancerous condition, and 22 (33.3%) were studies of non-cancerous rare diseases. The average age of participants (where known) across studies was 39.4 years. There has been a significant increase in the number of multi-omic studies in recent years, with 66.7% of included studies conducted since 2016 and 33% since 2018. Fourteen combinations of multi-omic analyses for rare disease research were returned spanning genomics, epigenomics, transcriptomics, proteomics, phenomics and metabolomics. Conclusions: This scoping review emphasises the value of multi-omic analysis for rare disease research in several ways compared to single omic analysis, ranging from the provision of a diagnosis, identification of prognostic biomarkers, distinct molecular subtypes (particularly for rare cancers), and identification of novel therapeutic targets. Moving forward there is a critical need for collaboration of multi-omic rare disease studies to increase the potential to generate robust outcomes and development of standardised biorepository collection and reporting structures for multi-omic studies.

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“…In this case, all three findings were present. The incidence of PUV in males is estimated at 1:5000 -1:8000 and is the most common cause of male obstructive uropathy [13].…”

Section: Discussionmentioning

confidence: 99%

Antenatal Management of Second Trimester Oligohydramnios and Evolving Abnormal Ultrasound Findings: Case Report

Roshan¹,

Ellen²,

Plonka³

et al. 2020

Obstet Gynecol Cases Rev

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Appropriate patient selection for prenatal intervention in the setting of abnormal antenatal ultrasound findings remains challenging. This case illustrates the course of a complicated pregnancy in a 35-year-old gravida 1 para 0 who presented to our Maternal-Fetal-Medicine clinic at 24.2 weeks gestation with fetal ascites, scalp edema, and oligohydramnios. Her first trimester ultrasound and genetic screening was normal. The patient was counseled that the observed findings carried a high chance for fetal demise or postnatal birth defects and complications. The patient chose to continue the pregnancy and opted for any necessary fetal interventions. Throughout the course of her pregnancy, multiple therapeutic interventions were performed in order to maintain a stable fetal environment, including intrauterine paracentesis, transabdominal amnioinfusion, vesicocentesis, and placement of a peritoneal amniotic shunt. The purpose of this case report is to investigate the role of fetal intervention in second trimester abnormal ultrasound findings and improve the quality of future prenatal consultation and therapy.

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Posterior urethral valves: 10 years audit of epidemiologic, diagnostic and therapeutic aspects in Yaoundé gynaeco-obstetric and paediatric hospital

Cited by 24 publications

References 17 publications

Acute kidney injury among critically ill neonates in a tertiary hospital in Tanzania; Prevalence, risk factors and outcome

Acute kidney injury among critically ill neonates in a tertiary hospital in Tanzania; Prevalence, risk factors and outcome

A scoping review and proposed workflow for multi-omic rare disease research

Antenatal Management of Second Trimester Oligohydramnios and Evolving Abnormal Ultrasound Findings: Case Report

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