Fenotype-uitbreiding
nieren en urineleider
conf 97%
Een bron beschrijft een nieuwe of uitgebreide waarneming: “The discovery of novel GCK mutations represents a major strength of this study, as this gene exhibits one of the most heterogeneous mutational spectra among all MODY-related genes, with more than 600 distinct variants described worldwide [ 32 , 38 ].”
gisteren
Fenotype-uitbreiding
nieren en urineleider
conf 97%
Een bron beschrijft een nieuwe of uitgebreide waarneming: “12 In this study, we reported an extremely rare case of simultaneous presentation of MRKH syndrome, left inguinal hernia, and left renal fusion with malrotation, and reported our experience in the diagnosis and treatment of such conditions.”
gisteren
Fenotype-uitbreiding
nieren en urineleider
conf 97%
Een bron beschrijft een nieuwe of uitgebreide waarneming: “In this study, we reported an extremely rare case presenting with MRKH syndrome, inguinal hernia, left renal fusion, and malrotation.”
gisteren
Fenotype-uitbreiding
nieren en urineleider
conf 97%
Een bron beschrijft een nieuwe of uitgebreide waarneming: “Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.”
gisteren
Fenotype-uitbreiding
nieren en urineleider
conf 97%
Een bron beschrijft een nieuwe of uitgebreide waarneming: “This study aimed to evaluate the genetic and clinical features of pediatric patients with MODY, to assess the prevalence of common and rare subtypes, and to report novel pathogenic variants identified in a Turkish cohort.”
gisteren
Fenotype-uitbreiding
nieren en urineleider
conf 97%
Een bron beschrijft een nieuwe of uitgebreide waarneming: “The identification of novel GCK variants and the detection of rare subtypes further expand the mutational and phenotypic spectrum of pediatric monogenic diabetes.”
gisteren
Fenotype-uitbreiding
nieren en urineleider
conf 97%
Een bron beschrijft een nieuwe of uitgebreide waarneming: “Moreover, data regarding novel mutations and rare MODY subtypes remain limited in the literature.”
gisteren
Fenotype-uitbreiding
nieren en urineleider
conf 97%
Een bron beschrijft een nieuwe of uitgebreide waarneming: “The objectives were to define the clinical and phenotypic variability within this cohort, identify previously unreported (novel) mutations, and determine the prevalence of rare MODY subtypes.”
gisteren
Fenotype-uitbreiding
nieren en urineleider
conf 97%
Een bron beschrijft een nieuwe of uitgebreide waarneming: “To the best of our knowledge, this is the first report on inverted SI of kidney cortex and medulla on fetal MRI.”
gisteren
Fenotype-uitbreiding
Klachten & kenmerken
conf 97%
Een bron beschrijft een nieuwe of uitgebreide waarneming: “We describe an additional patient with 2q12.1q14.1 microdeletion, showing MRKH and congenital hypothyroidism due to thyroid gland hypoplasia.”
gisteren
Fenotype-uitbreiding
Klachten & kenmerken
conf 97%
Een bron beschrijft een nieuwe of uitgebreide waarneming: “In this study, we report a second case of 2q12.1q14.1 microdeletion, involving PAX8 as a gene associated with Müllerian agenesis in a MRKH I and hypothyroidism.”
gisteren
Fenotype-uitbreiding
nieren en urineleider
conf 97%
Een bron beschrijft een nieuwe of uitgebreide waarneming: “Emerging evidence suggests that extrarenal features in HNF1B -related disorders may also exhibit genotype-dependent patterns, much like the renal phenotypes [ 5 ].”
gisteren
Fenotype-uitbreiding
Klachten & kenmerken
conf 97%
Een bron beschrijft een nieuwe of uitgebreide waarneming: “We report five patients with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS), four of whom presented with precocious puberty and one with growth hormone deficiency (GHD.”
gisteren
Fenotype-uitbreiding
Onderzoeksgrens
conf 97%
Een bron beschrijft een nieuwe of uitgebreide waarneming: “CONCLUSIONS Existing disease candidate gene prioritization methodologies mine biological and functional information about candidate genes, and we believe that our ToppGene Suite can complement these existing approaches by applying novel methods that mine...
gisteren
Fenotype-uitbreiding
nieren en urineleider
conf 97%
Een bron beschrijft een nieuwe of uitgebreide waarneming: “The most intriguing and novel finding in our study is the unexpected postnatal complete sonographic resolution of renal parenchymal hyperechogenicity, without evolution to cystic changes among unsuspected prenatal cases.”
gisteren
Fenotype-uitbreiding
nieren en urineleider
conf 97%
Een bron beschrijft een nieuwe of uitgebreide waarneming: “Another novel finding among our patients is the coexistence of both types of HNF1B- associated kidney abnormalities, i.e., cystic kidneys and CAKUT, which presented sequentially in Patient 3.”
gisteren
Fenotype-uitbreiding
Klachten & kenmerken
conf 97%
Een bron beschrijft een nieuwe of uitgebreide waarneming: “Although MIEN1 is regarded as a novel gene involved in prostate cancer progression by enhancing cell migration and invasion, the relative functional significance and regulatory mechanisms of MIEN1 remain largely unknown.”
gisteren
Fenotype-uitbreiding
leren, taal en gedrag
conf 97%
Een bron beschrijft een nieuwe of uitgebreide waarneming: “Conclusions This is the first report of social anxiety disorder in ACC patients.”
gisteren
Fenotype-uitbreiding
leren, taal en gedrag
conf 97%
Een bron beschrijft een nieuwe of uitgebreide waarneming: “Discussion and conclusions Here we reported a 17-year-old Chinese juvenile who was suffering from ACC with comorbid social anxiety disorder, and accompanied by behavior problems, psychiatric symptoms.”
gisteren
Fenotype-uitbreiding
leren, taal en gedrag
conf 97%
Een bron beschrijft een nieuwe of uitgebreide waarneming: “That is, children with high behavioral inhibition (BI), which refers to caution, fear, low rate of approach, and passive withdrawal in novel situations [ 39 ], may evolve to social phobia in their growth.”
gisteren
Fenotype-uitbreiding
leren, taal en gedrag
conf 97%
Een bron beschrijft een nieuwe of uitgebreide waarneming: “In summary, this is the first report of an ACC patient combined with social anxiety disorder.”
gisteren
Fenotype-uitbreiding
leren, taal en gedrag
conf 97%
Een bron beschrijft een nieuwe of uitgebreide waarneming: “Prenatal identification of a novel mutation in the MCPH1 gene associated with autosomal recessive primary microcephaly (MCPH) using next generation sequencing (NGS): a case report and review of the literature.”
gisteren
Fenotype-uitbreiding
leren, taal en gedrag
conf 97%
Een bron beschrijft een nieuwe of uitgebreide waarneming: “36 Importantly, NGS performed on CVS samples has enabled the identification of rare monogenic disorders, including a novel MCPH1 mutation associated with autosomal recessive primary microcephaly, highlighting the value of early sampling combined with...
gisteren
Fenotype-uitbreiding
nieren en urineleider
conf 97%
Een bron beschrijft een nieuwe of uitgebreide waarneming: “We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the young type 5 [MODY5; HNF1B (hepatocyte nuclear factor 1B)-MODY] who developed amyotrophic lateral sclerosis (ALS), a progressive neurodegenerative disorder.”
gisteren
Fenotype-uitbreiding
Klachten & kenmerken
conf 97%
Een bron beschrijft een nieuwe of uitgebreide waarneming: “This disorder has an incidence of approximately 1 in 4500 newborn girls and the aetiology is poorly understood. we report on two patients affected by MRKH syndrome in which array-CGH analysis disclosed an identical deletion spanning 1.5 Mb of genomic DNA at...
gisteren
Fenotype-uitbreiding
nieren en urineleider
conf 97%
Een bron beschrijft een nieuwe of uitgebreide waarneming: “Emerging evidence describes a "paradoxical" phenomenon where specific LoF mutations, initially causing hyperinsulinemic hypoglycemia in infancy, predispose individuals to glucose intolerance or frank diabetes in later life, often classified as...
gisteren
Fenotype-uitbreiding
nieren en urineleider
conf 97%
Een bron beschrijft een nieuwe of uitgebreide waarneming: “Emerging evidence suggests that GLP-1 receptor agonists can mitigate ER stress and preserve remaining β-cell function, shifting the management paradigm from pure insulin replacement to disease-modifying therapy [ 43 ].”
gisteren
Frequentie / cijfer
Onderzoeksgrens
conf 97%
Een bron meldt “99.9%” in de context van algemeen: “HiFi sequencing is 99.9% accurate, with occasional low-frequency false base calls.”
gisteren
Frequentie / cijfer
leren, taal en gedrag
conf 97%
Een bron meldt “0.005%” in de context van leren, taal en gedrag: “Exome-wide burden analysis To evaluate the excess of rare, deleterious protein-coding variants in individuals with epilepsy, we performed burden analysis across the entire exome, at both an individual-gene and a gene-set level. "Ultra-rare" variants...
gisteren
Frequentie / cijfer
leren, taal en gedrag
conf 97%
Een bron meldt “90%” in de context van leren, taal en gedrag: “This resulted in 48,767 samples (~90% of initial) for the downstream burden analysis, which comprises 18,963 epilepsy cases (including 1,743 DEEs, 4,980 GGE, and 8,425 NAFE) and 29,804 controls.”
gisteren
Frequentie / cijfer
Onderzoeksgrens
conf 97%
Een bron meldt “0.1%” in de context van algemeen: “To mitigate false positives, we used previously benchmarked filtering thresholds, where CNVs had to span >4 callable exons and had a site frequency <0.1% and a quality score >200.”
gisteren
Frequentie / cijfer
leren, taal en gedrag
conf 97%
Een bron meldt “000 individuals” in de context van leren, taal en gedrag: “1 Epilepsy has a prevalence of 4-10 per 1,000 individuals worldwide, making it one of the most common neurological conditions.”
gisteren
Frequentie / cijfer
leren, taal en gedrag
conf 97%
Een bron meldt “979 individuals” in de context van leren, taal en gedrag: “After stringent quality control (QC; Methods ), we included a total of 20,979 individuals with epilepsy and 33,444 controls without known neurological or neuropsychiatric conditions in our URV association analysis, roughly doubling the...
gisteren
Frequentie / cijfer
leren, taal en gedrag
conf 97%
Een bron meldt “938 individuals” in de context van leren, taal en gedrag: “We performed the association analyses separately for each epilepsy subtype - including 1,938 individuals with a diagnosis of a DEE, 5,499 with GGE, and 9,219 with NAFE - as well as for all epilepsy-affected individuals combined (including an...
gisteren
Frequentie / cijfer
leren, taal en gedrag
conf 97%
Een bron meldt “94.1%” in de context van leren, taal en gedrag: “The vast majority (128/136=94.1%) were DD/ASD genes, and only one gene - KDM6B (MIM: 611577) - was shared by all three NDD gene sets.”
gisteren
Frequentie / cijfer
Onderzoeksgrens
conf 97%
Een bron meldt “69.4%” in de context van algemeen: “It is reported that the incidences of transient non-visualization, GB agenesis, biliary atresia, cystic fibrosis and chromosomal abnormalities of isolated NVFGB in western populations were 69.4%, 24.7%, 3.5%, 2.4% and 1.4%, respectively [ 6 ].”
gisteren
Frequentie / cijfer
Onderzoeksgrens
conf 97%
Een bron meldt “5.9%” in de context van algemeen: “Qian et al. reported an overall detection rate of 5.9% for CMA-related BTS anomalies in foetuses [ 9 ].”
gisteren
Frequentie / cijfer
Onderzoeksgrens
conf 97%
Een bron meldt “15 individuals” in de context van algemeen: “An additional genetic analysis was reported for 15 individuals with recurrent duplications and duplications larger than 1 Mb: three had single nucleotide variants of uncertain clinical significance, one had a pathogenic 15q11.2 deletion, and the remaining 11 h”
gisteren
Frequentie / cijfer
leren, taal en gedrag
conf 97%
Een bron meldt “88.9%” in de context van leren, taal en gedrag: “The great majority of pediatric patients experienced early-onset epilepsy (8/9, 88.9%), with several cases of partial control or uncontrolled epilepsy (5/8, 62.5%).”
gisteren
Frequentie / cijfer
nieren en urineleider
conf 97%
Een bron meldt “3750 individuals” in de context van nieren en urineleider: “We have therefore founded the Aetiology of renal and urinary tract anomalies defines Diagnostic Efficacy and Clinical Outcome (ArtDECO) consortium, a large translational research framework within the Netherlands that includes a data- and...
gisteren
Frequentie / cijfer
nieren en urineleider
conf 97%
Een bron meldt “384 cases” in de context van nieren en urineleider: “To visualize this complexity of assigning genetic causality in CAKUT, Martino et al. calculated incredible estimates of 93,384 cases and 9,244,968 controls needed to identify genome-wide significant associations in a theoretical but feasible...
gisteren
Frequentie / cijfer
leren, taal en gedrag
conf 97%
Een bron meldt “21 patients” in de context van leren, taal en gedrag: “However, Ricardo et al. used SPECT to analyze rCBF in areas such as the frontal, temporal, and parietal cortex in 21 patients with POE and 23 patients with epilepsy and found no differences [ 65 ].”
gisteren
Frequentie / cijfer
leren, taal en gedrag
conf 97%
Een bron meldt “8256 individuals” in de context van leren, taal en gedrag: “A meta-analysis conducted in 2023, encompassing 8256 individuals diagnosed with schizophrenia and 7532 healthy individuals, revealed significantly reduced levels of glutamate in the medial frontal cortex, elevated levels of glutamine in the...
gisteren
Frequentie / cijfer
leren, taal en gedrag
conf 97%
Een bron meldt “11%” in de context van leren, taal en gedrag: “One study found that 11% of patients in two large epilepsy cohorts had antibodies against autoantigens, such as NMDA receptors, voltage-gated potassium channel complex protein, glycine receptors, and glutamic acid decarboxylase [ 145 ].”
gisteren
Frequentie / cijfer
leren, taal en gedrag
conf 97%
Een bron meldt “5.6%” in de context van leren, taal en gedrag: “A systematic review of 58 valid articles showed that patients with epilepsy had a pooled odds ratio for risk of 7.8 for developing psychosis compared with controls, and the pooled prevalence was estimated to be 5.6% (95%CI: 4.8-6.4%).”
gisteren
Frequentie / cijfer
leren, taal en gedrag
conf 97%
Een bron meldt “7%” in de context van leren, taal en gedrag: “In addition, the prevalence of psychotic disorders in temporal lobe epilepsy (TLE) is even higher, with an estimated 7% (95% CI: 4.9-9.1%) [ 6 ], whereas the probability of psychotic disorders in extra-TLE is about 4.3% [ 7 ].”
gisteren
Frequentie / cijfer
leren, taal en gedrag
conf 97%
Een bron meldt “1434 patients” in de context van leren, taal en gedrag: “One study found that among 1434 patients with epilepsy, the prevalence of IIP was 2.2%, while the prevalence of postictal psychosis was 3.7%.”
gisteren
Frequentie / cijfer
leren, taal en gedrag
conf 97%
Een bron meldt “12 patients” in de context van leren, taal en gedrag: “A 1-year follow-up of 12 patients with chronic interictal psychosis combined with intractable epilepsy showed that four patients worsened at 6 months and 1 year after treatment, two patients deteriorated at 6 months and improved at 1 year, three...
gisteren
Frequentie / cijfer
leren, taal en gedrag
conf 97%
Een bron meldt “48.5%” in de context van leren, taal en gedrag: “A review found that FN was mainly caused by the use of ASMs (48.5%), epilepsy surgery (31.8%), or vagus nerve stimulation (VNS) (13.6%).”
gisteren
Frequentie / cijfer
leren, taal en gedrag
conf 97%
Een bron meldt “2067 patients” in de context van leren, taal en gedrag: “Naoto Adachi et al. studied 2067 patients with focal epilepsy for every six-month period after administration of a new drug (either ASMs or non-ASMs) between 1981 and 2015.”
gisteren
Frequentie / cijfer
leren, taal en gedrag
conf 97%
Een bron meldt “5.8%” in de context van leren, taal en gedrag: “The incidence of psychosis was significantly increased with the use of second-generation ASMs, particularly topiramate (5.8%) and lamotrigine (3.7%).”
gisteren
Frequentie / cijfer
leren, taal en gedrag
conf 97%
Een bron meldt “50 patients” in de context van leren, taal en gedrag: “A large cohort of 50 patients with POE and 50 patients with epilepsy examined the volume of the total hippocampus and each subregion and found that the volumes of the posterior hippocampus were reduced bilaterally in POE patients.”
gisteren
Frequentie / cijfer
Onderzoeksgrens
conf 97%
Een bron meldt “38%” in de context van algemeen: “BRA and URA are common, reported in 38% and 36% of all cases, and BRA with FRAS1 in particular (48% of FRAS1 cases versus 33% of FREM2 cases) ( 45 ).”
gisteren
Frequentie / cijfer
nieren en urineleider
conf 97%
Een bron meldt “37%” in de context van nieren en urineleider: “A study of 29 stillbirth fetuses with renal agenesis identified a heterozygous RET mutation in 7/19 (37%) of those with BRA and in 2/10 (20%) of those with URA ( 31 ), ranking RET among the most frequent genes reported in BRA.”
gisteren
Frequentie / cijfer
nieren en urineleider
conf 97%
Een bron meldt “10 cases” in de context van nieren en urineleider: “Sex Renal agenesis has been reported to be more prevalent in males than females ( 8 ), although a more recent autopsy series of 10 cases of BRA yielded a male:female ratio of 1:1 ( 9 ).”
gisteren
Frequentie / cijfer
nieren en urineleider
conf 97%
Een bron meldt “2022 of 100” in de context van nieren en urineleider: “When fetal cases are included in future genetic invesigations of CAKUT, BRA will predictably be evaluated more often, as illustrated by a large series published in 2022 of 100 fetuses with severe renal defects was examined by targeted...
gisteren
Frequentie / cijfer
Onderzoeksgrens
conf 97%
Een bron meldt “1 in 7,700” in de context van algemeen: “BRA reportedly occurs in 1 in 7,700 fetuses to 30,000 live births ( 1 , 2 ) and although often seen in isolation, may be but one feature of a complex genetic syndrome affecting other organ systems.”
gisteren
Frequentie / cijfer
leren, taal en gedrag
conf 97%
Een bron meldt “18.2%” in de context van leren, taal en gedrag: “For 113 VUS CNVs, inherited VUS CNVs dramatically reduced anxiety reflected by TOP rates in de novo (18.2%, 2/11), inherited (0/51) and unknown group (2.0%, 1/51).”
gisteren
Frequentie / cijfer
Onderzoeksgrens
conf 97%
Een bron meldt “5.2%” in de context van algemeen: “In their study, Lin et al. reported a 5.2% VUS, which decreased to 1.9% (265/14073) after parent-of-origin tests 15 .”
gisteren
Frequentie / cijfer
Onderzoeksgrens
conf 97%
Een bron meldt “141 families” in de context van algemeen: “A previous study including 141 families reported that 59.8% of fetal CNVs were maternal origin and 40.2% were paternal origin 14 .”
gisteren
Frequentie / cijfer
Onderzoeksgrens
conf 97%
Een bron meldt “37 individuals” in de context van algemeen: “1 , 2 In our cohort of 37 individuals with 17q12DS, a 30-35% and 40-65% had an increased frequency of atopic disorders and recurrent sinopulmonary infections, respectively, raising the possible immune dysregulation.”
gisteren
Frequentie / cijfer
Onderzoeksgrens
conf 97%
Een bron meldt “52%” in de context van algemeen: “Also, 52%, 43% and 65% subjects reported recurrent ear infection, sinusitis, and bronchitis, respectively ( Fig.”
gisteren
Frequentie / cijfer
nieren en urineleider
conf 97%
Een bron meldt “15 cases” in de context van diabetes en stofwisseling: “The underlying ethiology was duodenal atresia in 15 cases (50%), duodenal web in 2 cases (6.6%) and annular pancreas in 13 cases (43.3%).”
gisteren
Frequentie / cijfer
nieren en urineleider
conf 97%
Een bron meldt “1 in 5000” in de context van diabetes en stofwisseling: “Keywords: duodenal obstruction, annular pancreas, ultrasound, prenatal diagnosis, chromosomal abnormality Abstract Background and Objectives : Congenital duodenal obstruction (CDO) is a very rare anomaly with an incidence of 1 in 5000-10,000...
gisteren
Frequentie / cijfer
nieren en urineleider
conf 97%
Een bron meldt “1 in 20,000” in de context van diabetes en stofwisseling: “The incidence of annular pancreas is approximately 1 in 20,000 live births [ 4 ].”
gisteren
Frequentie / cijfer
nieren en urineleider
conf 97%
Een bron meldt “40 percent” in de context van diabetes en stofwisseling: “But it is crucial to emphasize that more than 40 percent of cases of annular pancreas lead to considerable duodenal obstruction and related complications [ 8 ].”
gisteren
Frequentie / cijfer
nieren en urineleider
conf 97%
Een bron meldt “13 cases” in de context van diabetes en stofwisseling: “Thirty cases of CDO, in which both the diagnosis and ethiology were established, were categorized into two distinct groups based on their ethiology: CDO with annular pancreas (13 cases) and CDO without annular pancreas (17 cases).”
gisteren
Frequentie / cijfer
nieren en urineleider
conf 97%
Een bron meldt “46.2%” in de context van diabetes en stofwisseling: “Fetal growth restriction was identified in six cases (46.2%) with annular pancreas and five cases (29.4%) without annular pancreas, with no significant difference between the groups.”
gisteren
Frequentie / cijfer
nieren en urineleider
conf 97%
Een bron meldt “100%” in de context van diabetes en stofwisseling: “A study reported 100% accuracy in diagnosing annular pancreas prenatally in the case of double bubble and hyperechogenic band surrounding the duodenum ( Figure 2 ) [ 12 ].”
gisteren
Frequentie / cijfer
nieren en urineleider
conf 97%
Een bron meldt “43%” in de context van diabetes en stofwisseling: “We found a 43% ratio of annular pancreas, which is slightly higher than previous studies.”
gisteren
Frequentie / cijfer
Onderzoeksgrens
conf 97%
Een bron meldt “63.9%” in de context van algemeen: “Associated chromosomal abnormalities were reported in the literature over a wide range between 8 and 63.9% [ 9 , 18 , 21 ], mostly with trisomy 21.”
gisteren
Frequentie / cijfer
nieren en urineleider
conf 97%
Een bron meldt “77%” in de context van diabetes en stofwisseling: “More interestingly in our study, CDO with annular pancreas was significantly more associated (77% vs.”
gisteren
Frequentie / cijfer
nieren en urineleider
conf 97%
Een bron meldt “11 cases” in de context van diabetes en stofwisseling: “Laparoscopic diagnosis and treatment of neonates with duodenal obstruction associated with an annular pancreas: Report of 11 cases.”
gisteren
Frequentie / cijfer
nieren en urineleider
conf 97%
Een bron meldt “74 individuals” in de context van diabetes en stofwisseling: “Sixty-nine of the 74 individuals with diabetes and a T1D polygenic score exceeding an externally validated cutoff for distinguishing T1D from not-T1D were confirmed to have T1D.”
gisteren
Frequentie / cijfer
nieren en urineleider
conf 97%
Een bron meldt “82%” in de context van diabetes en stofwisseling: “The participants with diabetes were predominantly European ancestry (82%) and with T1D (65%).”
gisteren
Frequentie / cijfer
nieren en urineleider
conf 97%
Een bron meldt “5 individuals” in de context van diabetes en stofwisseling: “Of those 5 individuals with scores above the optimal cutoff without a diagnosis of T1D, there was one individual with CFRD, two individuals with T2D, one individual with SIH, and one individual with diabetes in association with...
gisteren
Frequentie / cijfer
nieren en urineleider
conf 97%
Een bron meldt “6.7%” in de context van diabetes en stofwisseling: “Unclear diabetes diagnosis One prepubertal African ancestry individual presented with new-onset "T1D" with a hemoglobin A1c 6.7% ( Figure 3C ).”
gisteren
Frequentie / cijfer
nieren en urineleider
conf 97%
Een bron meldt “5 cases” in de context van diabetes en stofwisseling: “Unlike other monogenic diabetes, about half of MODY5 cases are associated with a 17q12 deletion spanning approximately 1.5 Mb with variations from case to case encompassing 15 genes on average [ 4 , 5 ], including HNF1B [ 6 ], which explains the...
gisteren
Frequentie / cijfer
nieren en urineleider
conf 97%
Een bron meldt “17.2%” in de context van diabetes en stofwisseling: “At the age of 17 years, she was hospitalized due to elevated blood glucose levels with ketosis (blood glucose 29.2 mmol/l, HbA1c 17.2%, 3-hydroxybutyrate 6912 μmol/l).”
gisteren
Frequentie / cijfer
nieren en urineleider
conf 97%
Een bron meldt “9.9%” in de context van nieren en urineleider: “In addition, she had hypomagnesemia (1.4 mg/dl) with inappropriately increased urinary excretion of magnesium (FEMg 9.9%).”
gisteren
Frequentie / cijfer
nieren en urineleider
conf 97%
Een bron meldt “6.9%” in de context van diabetes en stofwisseling: “Since discharge, her blood glucose levels were well controlled (HbA1c ~ 6.9%) with a relatively small amount of insulin (total daily dose ~ 11 U/day) for a long time.”
gisteren
Frequentie / cijfer
nieren en urineleider
conf 97%
Een bron meldt “5 patients” in de context van diabetes en stofwisseling: “However, MODY5 patients especially with microdeletion tend to be leaner [ 1 ], which may be responsible for her insulin sensitivity.”
gisteren
Frequentie / cijfer
nieren en urineleider
conf 97%
Een bron meldt “45 cases” in de context van nieren en urineleider: “Bilateral renal agenesis/hypoplasia/dysplasia (BRAHD): postmortem analysis of 45 cases with breakpoint mapping of two de novo translocations.”
gisteren
Frequentie / cijfer
nieren en urineleider
conf 97%
Een bron meldt “127 families” in de context van nieren en urineleider: “Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis.”
gisteren
Frequentie / cijfer
Klachten & kenmerken
conf 97%
Een bron meldt “45.2%” in de context van groei, darmen en voeding: “Methods We examined prevalence rates of obesity and MetS in 103 adults with a typical 22q11.2 deletion (45.2% male, at median age 30.0 (range 17-71) years) and compared these rates with population-based data.”
gisteren
Frequentie / cijfer
Klachten & kenmerken
conf 97%
Een bron meldt “32.0%” in de context van groei, darmen en voeding: “Results Prevalence rates of generalized obesity (32.0%), abdominal obesity (51.5%), and MetS (33.0%) were significantly higher compared to a population-based cohort (15.7% ( P < 0.0001), 36.1% ( P = 0.002), and 15.2% ( P < 0.0001), respectively).”
gisteren
Frequentie / cijfer
Klachten & kenmerken
conf 97%
Een bron meldt “43.5%” in de context van groei, darmen en voeding: “Two previous single-center cohort studies in adults with 22q11.2DS reported high prevalence rates of generalized obesity (43.5%; 90/202 Canadians and 38.5%; 20/52 Belgian, respectively), based on body mass index (BMI) [ 7 , 8 ], the most widely...
gisteren
Frequentie / cijfer
leren, taal en gedrag
conf 97%
Een bron meldt “35.9%” in de context van leren, taal en gedrag: “Participants were referred from three main sources: family medicine ( n = 38, 35.9%), intellectual disability medicine ( n = 34, 33.0%), and pediatrics ( n = 16, 15.5%).”
gisteren
Frequentie / cijfer
leren, taal en gedrag
conf 97%
Een bron meldt “61.2%” in de context van leren, taal en gedrag: “The most common reasons for referral were periodic 22q11.2DS-related assessments and health monitoring ( n = 63, 61.2%; including transition to adult care), and psychiatric symptoms and/or psychosocial problems ( n = 23, 22.3%).”
gisteren
Frequentie / cijfer
Klachten & kenmerken
conf 97%
Een bron meldt “60%” in de context van groei, darmen en voeding: “Comparison with prevalence rates of obesity and metabolic syndrome in the general population To compare prevalence rates of obesity and MetS in the 22q11.2DS cohort with those in the general population, we used published data from Lifelines, a large...
gisteren
Frequentie / cijfer
Klachten & kenmerken
conf 97%
Een bron meldt “38.5%” in de context van groei, darmen en voeding: “Obesity prevalence among Belgians, who are geographically and genetically closely related to the Dutch, was 38.5% (at a median age of 30 years).”
gisteren
Frequentie / cijfer
Klachten & kenmerken
conf 97%
Een bron meldt “89%” in de context van lever en galblaas: “In contrast, the primary rick factor for CCA in Northeast Thailand particularly in Khon Kaen is liver fluke infection ( Opisthorchis Viverrini ), which accounts for approximately 89% of all liver cancers in this region [ 5 ].”
gisteren
Frequentie / cijfer
Onderzoeksgrens
conf 97%
Een bron meldt “84%” in de context van algemeen: “They reported the sensitivity of Arginase-1 and HepPar-1 to be 84% and 70%, respectively, while their specificity was 96% and 84%, respectively.”
gisteren
Tegenstrijdig bewijs
nieren en urineleider
conf 97%
Een bron rapporteert geen verband of een negatieve bevinding: “If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney disease is used.”
gisteren
Tegenstrijdig bewijs
Onderzoeksgrens
conf 97%
Een bron rapporteert geen verband of een negatieve bevinding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the proportion of inherited versus de novo pathogenic variants ( p = 0.198).”
gisteren
Tegenstrijdig bewijs
nieren en urineleider
conf 97%
Een bron rapporteert geen verband of een negatieve bevinding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine additional patients with EA and renal abnormalities but failed to identify any pathogenic variant.”
gisteren
Tegenstrijdig bewijs
nieren en urineleider
conf 97%
Een bron rapporteert geen verband of een negatieve bevinding: “In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history (maternal renal cyst and paternal diabetes) was more suggestive of an HNF1B -related disorder.”
gisteren
Klinische trial
Onderzoeksgrens
conf 85%
Screening for Genetic Forms of Diabetes in Convention of Care for Children and Adolescents With Diabetes (GENEPEDIAB) — afgerond. Sponsor: Université Catholique de Louvain.
gisteren
Klinische trial
Onderzoeksgrens
conf 85%
Identifying Maturity-onset Diabetes of the Young in Emirati Patients — onbekend. Sponsor: United Arab Emirates University.
gisteren
Klinische trial
Onderzoeksgrens
conf 85%
Ovarian Function and Gynecological Profile of Patients Carrying a Pathogenic Variant of the HNF1B Gene (GYN-HNF1) — afgerond. Sponsor: University Hospital, Toulouse.
gisteren
Klinische trial
Onderzoeksgrens
conf 85%
Switching From Insulin to Sulfonylurea in Diabetes Associated With Variants in MODY Genes — onbekend. Sponsor: Haukeland University Hospital.
gisteren
Klinische trial
Onderzoeksgrens
conf 85%
Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight — werft deelnemers. Sponsor: Simons Searchlight.
gisteren
Nieuwe publicatie
Genen & overerving
conf 97%
TBC1D3 is a primate-specific gene family that has expanded in the human lineage and has been implicated in neuronal progenitor proliferation and expansion of the frontal cortex.
gisteren
Nieuwe publicatie
Genen & overerving
conf 97%
Author Contributions All authors contributed to patient phenotyping data and sample collection or to analyses.
gisteren
Nieuwe publicatie
Genen & overerving
conf 97%
Objectives The aim of the study was to evaluate the detection rate of genetic abnormalities in cases of foetal gallbladder (FGB) size abnormalities to determine whether these abnormalities justify prenatal diagnosis.
gisteren
Nieuwe publicatie
leren, taal en gedrag
conf 97%
of WES info and statistics, [ 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 ]. Author Contributions L.M. and A.F. designed; L.
gisteren
Nieuwe publicatie
Genen & overerving
conf 97%
Background Chromosome 3q29 duplication syndrome is a rare chromosomal disorder with a frequency of 1:5000 in patients with a neurodevelopmental phenotype.
gisteren
Nieuwe publicatie
nieren en urineleider
conf 97%
A higher resolution version of the Graphical abstract is available as Supplementary information Supplementary Information The online version contains supplementary material available at 10.
gisteren
Nieuwe publicatie
Genen & overerving
conf 97%
Epilepsy is a prevalent chronic neurological disorder that can significantly impact patients' lives.
gisteren
Nieuwe publicatie
Genen & overerving
conf 97%
of the genetic etiologies known to be associated with this condition. Methods: A literature search was conducted as a scoping review employing OMIM, PubMed, and Cochrane to identify cases of BRA with known underlying genetic (chromosomal versus single gene) etiologies and those described in syndromes without any...
gisteren
Nieuwe publicatie
Genen & overerving
conf 97%
Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified from a pair of adult male monozygotic twins with neurodevelopmental disorder, and to investigate the genotype-phenotype characteristics associated with SMARCC2 variants.
gisteren
Nieuwe publicatie
nieren en urineleider
conf 97%
A young man presented unconscious with severe hyponatraemia, hypokalaemia, hypomagnesaemia and metabolic alkalosis.
gisteren
Nieuwe publicatie
Genen & overerving
conf 97%
Low-penetrance pathogenic copy number variations (CNVs), variation of uncertain significance (VUS) CNVs and likely pathogenic CNVs present a challenge for prenatal diagnosis.
gisteren
Nieuwe publicatie
Onderzoeksgrens
conf 97%
Background The 17q12 deletion syndrome (17q12DS) is a heterozygous deletion of a 1.4 megabase‒spanning DNA sequence on chromosome 17.
gisteren
Nieuwe publicatie
Genen & overerving
conf 97%
statistics [ 45 ]. For instance, some methods clarify that summary statistics a few standard deviations above a genome-wide mean do not have p values [ 22 , 31 ], and equally so, no adjustment for multiple testing.
gisteren
Nieuwe publicatie
nieren en urineleider
conf 97%
Background and Objectives : Congenital duodenal obstruction (CDO) is a very rare anomaly with an incidence of 1 in 5000-10,000 live births.
gisteren
Nieuwe publicatie
nieren en urineleider
conf 97%
Background. Accurately classifying pediatric diabetes can be challenging for providers, and misclassification can result in suboptimal care.
gisteren
Nieuwe publicatie
nieren en urineleider
conf 97%
Maturity-onset diabetes of the young type 5 (MODY5), causally associated with loss-of-function of the HNF1B gene, is a rare form of monogenic diabetes that has been underdiagnosed in part because microdeletions of chromosome 17q12 encompassing the HNF1B gene cannot be detected by sequencing-based approaches, which...
gisteren
Nieuwe publicatie
Genen & overerving
conf 97%
Objective Copy number variations (CNVs) may contribute to medical conditions. However, research on the impact of individual CNVs on endocrine disease is limited.
gisteren
Nieuwe publicatie
Genen & overerving
conf 97%
Technological advances such as next-generation sequencing (NGS) have enabled high-throughput assessment of the human genome, supporting the usage of genetic testing as a first-line tool across clinical medicine.
gisteren
Nieuwe publicatie
Genen & overerving
conf 97%
Neonatal cholestasis can be caused by several conditions, with biliary atresia being the major cause. Genetic and endocrinological etiologies represent other possibilities, with most of them requiring a rapid diagnosis and a specific treatment.
gisteren
Nieuwe publicatie
Hoe het wordt vastgesteld
conf 97%
Hepatocellular carcinoma (HCC) and cholangiocarcinoma (CCA) are primary liver cancers with overlapping histopathological features, making accurate diagnosis challenging.
gisteren
Nieuwe publicatie
Hoe het wordt vastgesteld
conf 97%
Objective To discuss the application value of technologies such as chromosome microarray analysis (CMA) in fetuses with hydronephrosis and pyelectasis.
gisteren
Nieuwe publicatie
Genen & overerving
conf 97%
Congenital heart disease (CHD) is the most common birth defect, affecting 2-8% of newborns, with a marked impact on neonatal health.
gisteren
Nieuwe publicatie
Genen & overerving
conf 97%
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that first develops in early childhood and is characterized by restricted interests, activities, and behaviors, as well as difficulties with social interactions and communication.
gisteren
Nieuwe publicatie
Genen & overerving
conf 97%
To evaluate the clinical utility of genetic testing via karyotyping, chromosomal microarray analysis (CMA), and exome sequencing in cases with corpus callosum abnormalities (CCA).
gisteren