The correlations of prenatal renal ultrasound abnormalities with pathogenic CNVs in a large Chinese cohort

2021 ◽  
Author(s):  
J. Su ◽  
Z. Qin ◽  
H. Fu ◽  
J. Luo ◽  
Y. Huang ◽  
...  
Keyword(s):  
Renal Ultrasound ◽  
Pathogenic Cnvs ◽  
Chinese Cohort

Renal ultrasound screening for renal congenital abnormalities at newborns, in Arad maternity

2008 ◽  
Vol 29 (S 1) ◽  
Author(s):  
D Burdan ◽  
D Teodorescu ◽  
A Marta ◽  
M Satmarean ◽  
E Gomoi ◽  
...  
Keyword(s):  
Congenital Abnormalities ◽  
Renal Ultrasound ◽  
Ultrasound Screening

THE NUCLEAR FACTOR OF HEPATOCYTES 1β (HNF1β)–ASSOCIATED DISEASE. CLINIC, DIAGNOSTIC, TREATMENT (LITERATURE REVIEW AND CLINICAL OBSERVATION)

2019 ◽  
Vol 23 (2) ◽  
pp. 100-108
Author(s):  
S. V. Papizh ◽  
O. R. Piruzieva
Keyword(s):  
Sanger Sequencing ◽  
Clinical Observation ◽  
Liver Enzymes ◽  
Renal Ultrasound ◽  
Nuclear Factor ◽  
Hepatocyte Nuclear Factor ◽  
Renal Hypoplasia ◽  
Unilateral Renal Agenesis ◽  
Elevated Liver Enzymes ◽  
Medullary Nephrocalcinosis

Hepatocyte nuclear factor 1β (HNF1β)-associated disease is a rare autosomal dominant disease caused by various mutations in the HNF1β gene coding the hepatocyte nuclear factor 1β. HNF1β is a transcription factor that is critical for the development of kidney urogenital tract, pancreas, liver, brain, and parathyroid gland. Renal phenotype or HNF1β- nephropathy appeared to be extremely heterogenic: multicystic renal dysplasia, renal hypoplasia, unilateral renal agenesis, horseshoe kidney, atypical familial juvenile hyperuricemic nephropathy, urinary tract malformations and tubular dysfunction. Extrarenal phenotype of HNF1β-associated disease could be maturity-onset diabetes of the young (MODY), pancreatic atrophy and exocrine pancreatic dysfunction, elevated liver enzymes, neonatal cholestasis, congenital abnormalities of the genital tract, hyperparathyroidism, neurological symptoms. The multisystem phenotype makes clinical verification of the diagnosis extremely difficult. In this article, we present a clinical observation of a child with HNF1β – associated disease. The first clinical presentation of HNF1β-associated disease was ultrasound changes in the kidneys (hyperechogenic kidneys?), which were detected by prenatal ultrasonography in pregnancy. Renal ultrasound revealed polycystic kidney disease in the first days of life and bilateral medullary nephrocalcinosis by the age of three. The clinical examination showed a reduced renal function and developed Fanconi syndrome (glycosuria, low molecular proteinuria, hypophosphatemia, aminoaciduria, hyperuricosuria) in the first year of life. Also the child had a non-constant asymptomatic elevation of liver enzymes, hyperparathyroidism, osteoporosis. The diagnosis was confirmed by the results of next generation sequencing which revealed novel heterozygous mutation in exon 4 of the HNF1b gene (chr17: 36091813C>T), p.Cys273Tyr (c.818G>A). The identified mutation was validated by Sanger sequencing. Validation by Sanger sequencing did not reveal a chr17: 36091813C>T mutation in parents, which suggested the appearance of a mutation in the child de novo.

Body mass index and risk of all-cause mortality in normotensive and hypertensive adults: The Rural Chinese Cohort Study

2021 ◽  
pp. 1-25
Author(s):  
Qionggui Zhou ◽  
Xuejiao Liu ◽  
Yang Zhao ◽  
Pei Qin ◽  
Yongcheng Ren ◽  
...  
Keyword(s):  
Cohort Study ◽  
Population Based ◽  
Normal Weight ◽  
Sensitivity Analyses ◽  
Hypertension Status ◽  
Moderation Effect ◽  
Increased Risk ◽  
All Cause Mortality ◽  
Chinese Cohort ◽  
The Impact

Abstract Objective: The impact of baseline hypertension status on the BMI–mortality association is still unclear. We aimed to examine the moderation effect of hypertension on the BMI–mortality association using a rural Chinese cohort. Design: In this cohort study, we investigated the incident of mortality according to different BMI categories by hypertension status. Setting: Longitudinal population-based cohort Participants: 17,262 adults ≥18 years were recruited from July to August of 2013 and July to August of 2014 from a rural area in China. Results: During a median 6-year follow-up, we recorded 1109 deaths (610 with and 499 without hypertension). In adjusted models, as compared with BMI 22-24 kg/m2, with BMI ≤18, 18-20, 20-22, 24-26, 26-28, 28-30 and >30 kg/m2, the HRs (95% CI) for mortality in normotensive participants were 1.92 (1.23-3.00), 1.44 (1.01-2.05), 1.14 (0.82-1.58), 0.96 (0.70-1.31), 0.96 (0.65-1.43), 1.32 (0.81-2.14), and 1.32 (0.74-2.35) respectively, and in hypertensive participants were 1.85 (1.08-3.17), 1.67 (1.17-2.39), 1.29 (0.95-1.75), 1.20 (0.91-1.58), 1.10 (0.83-1.46), 1.10 (0.80-1.52), and 0.61 (0.40-0.94) respectively. The risk of mortality was lower in individuals with hypertension with overweight or obesity versus normal weight, especially in older hypertensives (≥60 years old). Sensitivity analyses gave consistent results for both normotensive and hypertensive participants. Conclusions: Low BMI was significantly associated with increased risk of all-cause mortality regardless of hypertension status in rural Chinese adults, but high BMI decreased the mortality risk among individuals with hypertension, especially in older hypertensives.

Elevated triglyceride–glucose index predicts risk of incident ischaemic stroke: The Rural Chinese Cohort Study

2021 ◽  
pp. 101246
Author(s):  
Yang Zhao ◽  
Haohang Sun ◽  
Weidong Zhang ◽  
Yuanlin Xi ◽  
Xuezhong Shi ◽  
...  
Keyword(s):  
Cohort Study ◽  
Ischaemic Stroke ◽  
Triglyceride Glucose Index ◽  
Chinese Cohort

scholarly journals Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype–phenotype analysis

2021 ◽  
pp. bjophthalmol-2021-319084
Author(s):  
Zexu Chen ◽  
Tianhui Chen ◽  
Min Zhang ◽  
Jiahui Chen ◽  
Michael Deng ◽  
...  
Keyword(s):  
Calcium Binding ◽  
Gene Mutations ◽  
Mutation Spectrum ◽  
Missense Mutations ◽  
Ectopia Lentis ◽  
Phenotype Analysis ◽  
Chinese Cohort ◽  
Fibrillin 1 ◽  
Epidermal Growth ◽  
Dependent Probe

AimsTo identify the mutation spectrum and genotype–phenotype correlations of fibrillin-1 (FBN1) mutations in a Chinese cohort with congenital ectopia lentis (EL).MethodsPatients clinically suspected of congenital zonulopathy were screened using panel-based next-generation sequencing followed by multiplex ligation-dependent probe amplification. All the probands were subjected to thorough ocular examinations. Molecular and clinical data were integrated in pursuit of genotype–phenotype correlation.ResultsA total of 131 probands of FBN1 mutations from unrelated families were recruited. Around 65% of the probands were children younger than 9 years old. Overall, 110 distinct FBN1 mutations were identified, including 39 novel ones. The most at-risk regions were exons 13, 2, 6, 15, 24 and 33 in descending order of mutation frequency. The most prevalent mutation was c.184C>T (seven, 5.34%) in the coding sequence and c.5788+5G>A (three, 2.29%) in introns. Missense mutations were the most frequent type (103, 78.63%); half of which were distributed in the N-terminal regions (53, 51.46%). The majority of missense mutations were detected in one of the calcium-binding epidermal growth factor-like domains (62, 60.19%), and 39 (62.90%) of them were substitutions of conserved cysteine residues. Microspherophakia (MSP) was found in 15 patients (11.45%). Mutations in the middle region (exons 22–42), especially exon 26, had higher risks of combined MSP (OR, 5.51 (95% CI 1.364 to 22.274), p=0.017).ConclusionsThis study extended the knowledge of the FBN1 mutation spectrum and provided novel insights into its clinical correlation regarding EL and MSP in the Chinese population.

scholarly journals Association of neural tube defects with congenital abnormalities of the urogenital system in a Chinese cohort

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Zhi-Hua Hong ◽  
Dong-Hui Jin ◽  
Xiao-Jian Yuan ◽  
Yang Zhao ◽  
Hou-Wei Lin ◽  
...  
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Congenital Abnormality ◽  
Congenital Abnormalities ◽  
Urogenital System ◽  
Urinary System ◽  
Intravenous Pyelography ◽  
Abdominal Organs ◽  
Chinese Cohort ◽  
Urogenital Malformation

Abstract Background This study aimed to retrospectively analyze the correlation between congenital abnormality of the urogenital system and various factors in children with neural tube defects (NTDs). Methods A total of 190 children with congenital NTDs, who were admitted to a hospital from May 2013 to May 2018, were included into the present study. All admitted children with congenital NTDs were carried out routine abdominal B-ultrasound examinations to determine the malformations of the abdominal organs, including the urinary system. Children with a B-ultrasound result of suspected and unsure malformation underwent intravenous pyelography (IVP) and voiding cysto-urethrography (VCU), and this was further confirmed by the CT results. Results The incidence of urogenital malformation was 12.1% (23/190) in children with congenital NTDs. For the 23 children with urogenital malformations, most of these children had no definite urinary system symptoms, while some of these children had multiple incidences of urinary system infections. Conclusions Congenital NTDs are often combined with urogenital malformations, if not specifically searched these may be overlooked. The early detection of these malformations is beneficial to reduce the risk of operation and improve the prognosis.

SPINK1 mutations and risk of pancreatic cancer in a Chinese cohort

Pancreatology ◽  
2021 ◽  
Author(s):  
Nan Ru ◽  
Sheng-Yong Wu ◽  
Lei Wang ◽  
Jia-Hui Zhu ◽  
Xiao-Nan Xu ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
Chinese Cohort

scholarly journals Disparities between IgG4-related kidney disease and extrarenal IgG4-related disease in a case–control study based on 450 patients

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Qiaozhu Zeng ◽  
Jingyuan Gao ◽  
Xinyu Zhang ◽  
Aichun Liu ◽  
Zhenfan Wang ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Clinical Laboratory ◽  
Imaging Finding ◽  
Age At Onset ◽  
Female Ratio ◽  
Related Disease ◽  
Igg4 Related Disease ◽  
Peking University ◽  
Chinese Cohort ◽  
Male To Female

AbstractWe aimed to compare the demographic, clinical and laboratory characteristics between IgG4-related kidney disease (IgG4-RKD+) and extrarenal IgG4-related disease (IgG4-RKD−) in a large Chinese cohort, as well as describing the radiological and pathological features of IgG4-RKD+. We retrospectively analyzed the medical records of 470 IgG4-related disease (IgG4-RD) patients at Peking University People’s Hospital from January 2004 to January 2020. The demographic, clinical, laboratory, radiological and pathological characteristics between IgG4-RKD+ and IgG4-RKD− were compared. Twenty IgG4-RD patients who had definite etiology of renal impairment including diabetes, hypertension and etc. were excluded. Among the remained 450 IgG4-RD patients, 53 were diagnosed with IgG4-RKD+ . IgG4-RKD+ patients had older age at onset and at diagnosis. Male to female ratio of IgG4-RKD+ patients is significantly higher. In the IgG4-RKD+ group, the most commonly involved organs were salivary gland, lymph nodes and pancreas. It was found that renal function was impaired in approximately 40% of IgG4-RKD+ patients. The most common imaging finding is multiple, often bilateral, hypodense lesions. Male sex, more than three organs involved, and low serum C3 level were risk factors for IgG4-RKD+ in IgG4-RD patients. These findings indicate potential differences in pathogenesis of these two phenotypes.

scholarly journals 1003 A Case of Tunnel-Vision in Upper Renal Tract Imaging: The Invisible Gorilla

2021 ◽  
Vol 108 (Supplement_2) ◽  
Author(s):  
M Swamad ◽  
M K Quraishi ◽  
S Ahmed
Keyword(s):  
Renal Mass ◽  
Left Kidney ◽  
Interesting Case ◽  
Ct Scans ◽  
Renal Ultrasound ◽  
Ultrasound Scan ◽  
Surgical Team ◽  
Tunnel Vision ◽  
Impact Patient Care ◽  
The Right

Abstract We present an interesting case of a 70-year-old female who presented with haematuria on the suspected cancer pathway. Renal ultrasound showed a vascular renal mass on her right kidney measuring 8x7cm with an unremarkable left kidney. She underwent a laparoscopic radical nephrectomy following confirmation of an 8cm renal mass in the right kidney on the contrasted staging CT scan with a repeat review at the multidisciplinary meeting. Post-operatively a subsequent review of the pre-operative CT and ultrasound scan, showed an incidental large left(contralateral) upper quadrant retroperitoneal fatty mass sized 15x10cm, displacing the stomach and spleen. Further investigation in the form of an MRI Abdomen excluded features of a liposarcoma, resulting in the diagnosis of a large retroperitoneal lipoma. This case highlights the significance of selective attention in imaging interpretation. We believe this to be a prime example of the level of meticulousness required as fat-rich tissues have low attenuation on CT-scans, which can be easily missed out. A cautious multi-clinician interpretation of scans should be performed to avoid missing potentially sinister pathology which would impact patient care dramatically. This case has led to more thorough review of future pre-operative imaging by the operating surgical team.

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