Alles wat de analyse-engine uit het corpus afleidde: nieuwe publicaties, gewijzigde bronnen, gen–kenmerk-koppelingen, gerapporteerde cijfers, zorgaanbevelingen en tegenstrijdig bewijs. Elke kaart toont hoeveel onafhankelijke bronnen het ondersteunen en linkt naar de exacte zin.
Een bron meldt “50%” in de context van nieren en urineleider: “While up to 50% of children requiring kidney replacement therapy have congenital anomalies of the kidney and urinary tract (CAKUT), they represent only a fraction of the total patient population with CAKUT.”
Een bron meldt “6.4%” in de context van diabetes en stofwisseling: “Over one year after diagnosis, she was receiving less insulin than expected, with little hypoglycemia, and her hemoglobin A1c was 6.4%.”
Een bron meldt “95%” in de context van groei, darmen en voeding: “Statistical analyses We calculated prevalence rates with their 95% confidence intervals (95% CI) for generalized and abdominal obesity, and MetS, using the normal distribution approximation (Wald interval) formula; CI = ρ ± 1.96 * ρ ( 1 − ρ ) n .”
Een bron meldt “8.5%” in de context van algemeen: “DM has an 8.5% prevalence among the adult population; in 2014, 422 million people worldwide were affected by DM [ 4 ].”
Een bron meldt “1288 cases” in de context van diabetes en stofwisseling: “Diabetes mellitus as a risk factor for ALS In the USA, a case-control study enrolling 1288 cases and 7561 controls reported a protective role of DM as antecedent condition of ALS (odds ratio (OR) 0.47; 95% confidence intervals (CI) 0.38-0.58) [ 7 ].”
Een bron meldt “10%” in de context van nieren en urineleider: “Although individually rare, genetic causes account for end-stage renal disease in 10% to 15% of adults and 70% of children, and in many of these individuals, genetic testing can identify a specific etiology and meaningfully impact management.”
Een bron meldt “24%” in de context van diabetes en stofwisseling: “Among those on insulin, the commencement of thiamine treatment was associated with: achievement of insulin-independency in 24% ( n = 17), a decrease in daily insulin requirement in 38% ( n = 27), improvement in glycemic control without specification...
Een bron meldt “64%” in de context van nieren en urineleider: “Even in the absence of an obvious familial pattern (e.g. kidney tubulopathies), a genetic cause may be identified in ∼64% of patients [ 9 ].”
Een bron meldt “1.5%” in de context van nieren en urineleider: “Exome sequencing in adults with undiagnosed CKD identified a medically actionable variant unrelated to the kidney phenotype in ∼1.5% of patients [ 10 ].”
Een bron meldt “70%” in de context van leren, taal en gedrag: “7 In contrast to Baldassari et al, where most (>70%) GATOR1 protein-truncating variant carriers were familial, only 20% of the carriers in our study cohort had a known family history of epilepsy.”
Een bron meldt “5%” in de context van leren, taal en gedrag: “Analysis of de novo mutations in severe developmental disorders (DDs) has discovered 285 genes at exome-wide significance, 37 and rare variant associations in autism spectrum disorder (ASD) 22 and schizophrenia (SCZ) 38 have implicated 185 and 32 genes at a fa”
Een bron meldt “40%” in de context van algemeen: “Among the 11 reported features, abnormalities in the external ear and thin upper lip vermilion occurred with a frequency exceeding 40% [ 16 ].”
Een bron meldt “30%” in de context van diabetes en stofwisseling: “An annular pancreas is responsible for approximately 30% of CDOs detected in neonates [ 9 ].”
Een bron meldt “80%” in de context van diabetes en stofwisseling: “Recently, Yin et al. reported 80% sensitivity and 97% specificity of pliers sign diagnosing annular pancreas in the prenatal period [ 15 ].”
Een bron meldt “65%” in de context van lever en galblaas: “It's noteworthy that this form of liver disease is a predominant feature in approximately 65% of patients with spontaneous HNF-1β gene mutations.”
Een bron meldt “15%” in de context van nieren en urineleider: “1 , 6 In a study, approximately 13- 15% of patients developed end-stage renal disease.”
Een bron meldt “66%” in de context van diabetes en stofwisseling: “Regarding clinical findings, about 66% of patients with MODY5 have a family history of DM, and the median age at diabetes diagnosis is 16 years old.”
Een bron meldt “075 individuals” in de context van leren, taal en gedrag: “Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.”
Een bron meldt “13.3%” in de context van genitale en Müllerian-ontwikkeling: “The incidence of genital abnormalities in MODY5 is 13.3%, including cryptorchidism, absence of the vas deferens, azoospermia, epididymal cysts, and epididymal dysplasia.”
Een bron meldt “18 Patients” in de context van lever en galblaas: “18 Patients with mild liver dysfunction usually show asymptomatic elevation of liver enzymes, especially alanine aminotransferase and γ-glutamyl transferase, while severe cases can lead to cholestatic hepatomegaly.”
Een bron meldt “12.1%” in de context van nieren en urineleider: “Twelve (12.1%) patients had notable prenatal histories, including small for gestational age or microcephaly ( n = 5), abnormal amniotic fluid levels ( n = 3), high‐risk results on a Quad test with normal amniocentesis ( n = 1), single kidney ( n = 1),...
Een bron meldt “3.0%” in de context van leren, taal en gedrag: “At the last follow‐up, three (3.0%) patients had short stature and four (4.0%) had microcephaly.”
Een bron meldt “0.015%” in de context van algemeen: “While such CNVs may be considered pathogenic, their population prevalence (0.015%-0.14%) and variable expressivity suggest that not all carriers will manifest clinical symptoms [ 27 , 28 , 29 , 30 , 31 , 32 ].”
Een bron meldt “6 %” in de context van het hart: “Recurrent CNVs explain a measurable fraction (~3-6 %) of cases in population series and often flag syndromic comorbidity (neurocognitive, cardiac).”
Een bron meldt “1 in 14,500” in de context van algemeen: “1 The worldwide prevalence of 17q12DS is unknown although one study reported this condition in 1 in 14,500 people in Iceland.”
Een bron meldt “70 percent” in de context van diabetes en stofwisseling: “The most common types are HNF1A -MODY (also known as MODY3), accounting for 50 to 70 percent of cases, and GCK -MODY (MODY2), accounting for 30 to 50 percent of cases.”
Een bron meldt “10 percent” in de context van nieren en urineleider: “Less frequent types include HNF4A -MODY (MODY1) and renal cysts and diabetes (RCAD) syndrome (also known as HNF1B -MODY or MODY5), which each account for 5 to 10 percent of cases.”
Een bron meldt “3 percent” in de context van diabetes en stofwisseling: “Frequency MODY is estimated to account for 1 to 3 percent of all cases of diabetes.”
Een bron meldt “63 cases” in de context van genitale en Müllerian-ontwikkeling: “In one study of Müllerian aplasia, 4/63 cases (6 per cent) were linked to a 17q12 microdeletion.”
Een bron meldt “2%” in de context van nieren en urineleider: “HSH patients had fractional excretion of magnesium (FEMg) < 2%, while GS and HNF1B-MODY presented FEMg > 3% with renal magnesium loss.”
Een bron meldt “3%” in de context van leren, taal en gedrag: “The features observed in patients with recurrent and large overlapping duplications also significantly complement the known symptoms; musculoskeletal, brain, and heart anomalies, as well as epilepsy and sleep disorders, which occur with a frequency of 3%-31%, ”
Een bron meldt “20%” in de context van nieren en urineleider: “Rare variants in genes of kidney and urinary tract development and copy number variants make up the current genetic architecture of CAKUT Given the early observations of familial segregation in 15-20% of CAKUT cases [ 1 , 2 , 8 ], a genetic basis for abnormal ”
Een bron meldt “54.55%” in de context van nieren en urineleider: “In patients with Gitelman syndrome, hypomagnesemia was most commonly identified during workup for short stature (54.55%) or detected incidentally (36.36%).”
Een bron meldt “50.0%” in de context van diabetes en stofwisseling: “Transaminitis occurred frequently in patients with HNF1B-related MODY, with a prevalence of 50.0%.”
Een bron meldt “21.43%” in de context van nieren en urineleider: “Proteinuria and hematuria occurred in 21.43% and 14.81% of patients, respectively; both resolved during follow-up.”
Een bron meldt “39.29%” in de context van nieren en urineleider: “Renal ultrasound abnormalities (renal atrophy, renal cyst, small kidney, duplex kidney) were found in 39.29% of patients, especially in those with HNF1B-related MODY.”
Een bron meldt “36 patients” in de context van nieren en urineleider: “2 Proportion of different diseases associated with hypomagnesemia General characteristics A total of 36 patients were identified; of those, 28 patients [15 (54%) females] met the inclusion criteria and were included for analysis (Fig.”
Een bron meldt “85%” in de context van nieren en urineleider: “The kidney reabsorbs about 85% of filtered Mg²⁺: 20% in the proximal tubule, 60-70% in the thick ascending limb, and 5-10% in the distal tubule [ 5 ].”
Een bron meldt “1%” in de context van algemeen: “Our expectation is that this frequency can be observed over a given region as the secondary base, remaining well below 1% frequency.”
Een bron meldt “2.5%” in de context van algemeen: “Sample QC criteria, on the basis of all sequenced samples and the initial QC-ed variants, included: (1) mean call rate ≥0.90, (2) mean GQ ≥57, (3) mean DP ≥25, (4) freemix contamination estimate ≤2.5%, (5) percent chimeric reads ≤2%, and (6) the genetically im”
Een bron meldt “45%” in de context van groei, darmen en voeding: “Importantly, 45% of the individuals with recurrent and overlapping large duplications were small for gestational age.”
Een bron meldt “25%” in de context van leren, taal en gedrag: “Postictal Psychosis of Epilepsy (PIP) Postictal psychosis of epilepsy (PIP) is the most common POE and represents about 25% of all POE [ 4 , 11 ].”
Een bron meldt “7.0%” in de context van leren, taal en gedrag: “Analysis of EEG data confirmed a significant correlation between TLE and PIP, and the prevalence of PIP in TLE was about 7.0% [ 17 , 31 ].”
Een bron meldt “13%” in de context van diabetes en stofwisseling: “2466 ± 167 g) in the annular pancreas group (13% difference) may suggest an altered pancreatic function.”
Een bron meldt “6%” in de context van lever en galblaas: “Cholestasis is frequently reported in patients with PSIS, with a prevalence ranging from 6% to 42% in different studies ( 13 ).”
Een bron meldt “75%” in de context van lever en galblaas: “HCC is the most common primary liver cancer, comprises 75%-85% of cases and originates from the hepatocytes [ 2 ].”
Een bron meldt “10 patients” in de context van lever en galblaas: “Materials and methods 2.1 Patient and sample collection Frozen liver tumor tissues from 10 patients with HCC and 10 patients with cholangiocarcinoma CCA and their clinicopathological data were obtained from Srinagarind Hospital and stored at the...
Een bron meldt “72.0%” in de context van nieren en urineleider: “Diagnostic yield was highest in cystic kidney diseases (72.0%), followed by tubulopathies (34.3%), glomerulopathies (25.8%), and CAKUT (19.2%).”
Een bron meldt “147 Cases” in de context van nieren en urineleider: “Prenatal Diagnosis and Genetic Etiology of Fetal Polycystic Kidney Disease: A Single-Center Retrospective Study of 147 Cases in Yunnan Province, Southwest China Abstract Background Fetal polycystic kidney disease (FPDK) is a common ultrasound...
Een bron meldt “95.0%” in de context van nieren en urineleider: “Renal cysts were present in 95.0% of patients, hyperechogenic kidneys in 70.0%, and congenital anomalies of the kidney and urinary tract (CAKUT) in 20.0%.”
Een bron meldt “25.0%” in de context van nieren en urineleider: “Hypomagnesemia was observed in 25.0% of patients, while hyperuricemia was identified in 29.4% of those with available measurements.”
Een bron meldt “7.4%” in de context van diabetes en stofwisseling: “Overall, 36/486 probands (7.4%) with genetically confirmed monogenic diabetes in the NMR carried a P/LP HNF1B sequence variant or 17q12del.”
Een bron meldt “79%” in de context van nieren en urineleider: “Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study KEY POINTS: In a cohort of children, 79% of families with kidney cysts had a monogenic diagnosis.”
Een bron meldt “54%” in de context van nieren en urineleider: “A positive family history of cystic kidney disease was more common among patients with a genetic diagnosis (54% versus 11%; P = 0.008).”
Een bron meldt “6.3%” in de context van diabetes en stofwisseling: “Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian Pediatric Diabetes Centers during 2007 to 2012.”
Een bron meldt “2 cases” in de context van diabetes en stofwisseling: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G.”
Een bron meldt “35 individuals” in de context van diabetes en stofwisseling: “For GCK-related hyperglycemia, the six studies (35 individuals) assessing therapy discontinuation show no HbA1c deterioration.”
Een bron meldt “18 individuals” in de context van diabetes en stofwisseling: “A randomized trial (18 individuals per group) shows that sulfonylureas (SU) were more effective in HNF1A-diabetes than in type 2 diabetes.”
Een bron meldt “175 individuals” in de context van diabetes en stofwisseling: “Most studies on GCK-related hyperglycemia looked at within individual stability of HbA1c over time without glucose-lowering therapy (175 individuals from case reports and cohort data, range of time between 3-126 months) 15 , 17 , 19 , 21...
Een bron meldt “11.7%” in de context van diabetes en stofwisseling: “A statistically significant difference in mean glucose level (0.78 mmol/L) and time above target (11.7%) was found after high-carbohydrate diet if the analysis was restricted to the seven patients with an initial HbA1c above 6.5% (a non-predefined...
Een bron meldt “76 individuals” in de context van diabetes en stofwisseling: “A striking observation was that all the trials or experimental studies (4 trials, 1 uncontrolled study, 76 individuals) 25 - 29 , and almost all the observational data (18 studies, 182 individuals) 21 , 23 , 30 - 45 were for HNF1A-diabetes.”
Een bron meldt “16 individuals” in de context van diabetes en stofwisseling: “While five studies included both HNF1A-diabetes and HNF4A-diabetes, only three studies (16 individuals) had HNF4A-diabetes data that could be extracted 21 , 22 , 34 .”
Een bron meldt “0.8%” in de context van diabetes en stofwisseling: “The HbA1c response was variable with a median reduction of 0.8% and six of eight improving but one individual had a worsening of HbA1c by 3.2%.”
Een bron meldt “293 cases” in de context van diabetes en stofwisseling: “The articles represent altogether 293 cases with HNF1B-diabetes and 242 with m.3243 A > G MD.”
Een bron meldt “29 of 51” in de context van diabetes en stofwisseling: “One French study systematically evaluated the use of SU or repaglinide after the genetic diagnosis at a median [IQR] duration of 0.75 [0-5.25] years and reported that 29 of 51 (57%) patients displayed an HbA1c decrease.”
Een bron meldt “16 cases” in de context van diabetes en stofwisseling: “After duplicate removal, abstract screening, and full-text review, 19 studies met eligibility criteria, including five case series reporting on 16 cases, 14 reports of single cases, for a total of 30 6q24-TND cases for whom data was available...
Een bron meldt “72 patients” in de context van diabetes en stofwisseling: “Regarding the 72 patients with individual data, 8% ( n = 6) remained insulin-independent from diabetes onset until the median follow-up time of 1 year (3 days-3 years) after initiation of thiamine.”
Een bron meldt “95 patients” in de context van diabetes en stofwisseling: “Only 11 of all 95 patients had reached adulthood (aged >18 years) -all of these were on insulin therapy.”
Een bron meldt “29 of 95” in de context van diabetes en stofwisseling: “Glycemic control both prior to and after the initiation of thiamine treatment was reported for 29 of 95 (31%) patients with a median pre-HbA1c of 8.7% (5.9-21.0%) and median post-HbA1c 6.7% (5.2-9.1%) 90 , 94 , 95 , 101 - 104 , 106 , 110 , 113...
Een bron meldt “16 of 89” in de context van diabetes en stofwisseling: “Insulin dose at both timepoints was available for 16 of 89 (18%) insulin-treated patients, with the median dose of 0.68 (0.42-1.8) IU/kg/day prior to thiamine treatment and 0.4 (0.0-0.8) IU/kg/day while on thiamine treatment.”
Een bron meldt “17.3%” in de context van diabetes en stofwisseling: “His postprandial 2-hour blood glucose was recorded at 40 mmol/L, with an HbA1c of 17.3% and ALT of 122U/L.”
Een bron meldt “41 cases” in de context van algemeen: “Between 2013 and 2024, a total of 41 cases of 17q12 microdeletion syndrome with HNF-1β gene mutation were reported on Pubmed.”
Een bron meldt “75.4%” in de context van algemeen: “Sotiriadis et al. reported proportions of normal neurodevelopment and severe disability of 75.4% and 11.6% in children with isolated ACC, respectively [ 25 ].”
Een bron meldt “4.2%” in de context van diabetes en stofwisseling: “4 At a follow-up of 1 year, the child is on maintenance hemodialysis, and has normal glucose control (HBA1C 4.2%; fasting blood glucose 87 mg/dL).”
Een bron meldt “521 patients” in de context van nieren en urineleider: “Methods This was a retrospective observational study involving 521 patients with HNF1B disease from 14 countries using the European Reference Network for rare kidney diseases with detailed information on the HNF1B genotype ( HNF1B variants or...
Een bron meldt “521 individuals” in de context van nieren en urineleider: “We therefore aimed to investigate the association of HNF1B variants and the 17q12del with the development of CKD in a large multicenter European cohort of 521 individuals with genetically well-characterized HNF1B disease.”
Een bron meldt “97%” in de context van nieren en urineleider: “Patients with the 17q12del also developed end-stage kidney failure (ESKF) less frequently ( Supplementary Table S2 , P < 0.001) and displayed a delayed progression to ESKF ( Supplementary Figure S3 a, P < 0.001) with ESKF-free survival of 97% (95% CI: 95-100) ”
Een bron meldt “29%” in de context van nieren en urineleider: “Hypomagnesemia (defined as plasma magnesium <0.6 mmol/l) was observed in 29% of the patients during follow-up ( Supplementary Table S2 ) and was significantly more frequent in patients with the 17q12del (HR: 2.12 [95% CI: 1.32-3.50], P = 0.002, Figure 7 a).”
Een bron meldt “12%” in de context van diabetes en stofwisseling: “Finally, only 12% of the patients developed hyperglycemia (blood glucose > 1.26 g/l, Supplementary Table S2 ), which did not correlate with a specific HNF1B genotype even though a tendency to be less frequent in the population with the 17q12del was...
Een bron meldt “67%” in de context van algemeen: “In addition, the frequency of the 17q12del in our large cohort is close to what has been reported in the literature, 67% in the current study versus 56% to 59% in the literature.”
Een bron meldt “62 patients” in de context van nieren en urineleider: “(b) Progression to ESKF after developing CKD is not different between the 62 patients with HNF1B variants and 33 patients with the 17q12del.”
Een bron meldt “16.8%” in de context van nieren en urineleider: “This patient presented with "dry mouth, polydipsia, and polyuria with weight loss for 2 months." The concentration level of fasting venous blood glucose was 30.0 mmol/L, the serum potassium was 2.81 mmol/L, and the hemoglobin A1c (HbA1c) level was 16.8%.”
Een bron meldt “94.6 %” in de context van nieren en urineleider: “Results For 17q12 deletion, renal anomalies were found in 35 fetuses (35/37, 94.6 %), with hyperechogenic kidneys (HEK, 28/37, 75.7 %) and multicystic dysplastic kidneys (17/37, 45.9 %) being the most common findings.”
Een bron meldt “57.1 %” in de context van algemeen: “We obtained seven cases with parental CMA validation results, of which four (4/7, 57.1 %) were parentally inherited, lower than previously reported in the literature [ 1 ].”
Een bron meldt “50 individuals” in de context van algemeen: “Whereas 17q12 microduplication was first described by Sharp et al. [ 30 ] in 2006, at least 50 individuals have been reported, and these individuals were often further tested for CMA because of ID and/or DD.”
Een bron meldt “39.58 %” in de context van nieren en urineleider: “In a large retrospective study illustrating the correlation between fetal kidney abnormalities and CNVs, Su et al. [ 36 ] indicated that HEK had a CMA diagnostic yield of up to 39.58 %.”
Een bron meldt “68.8 %” in de context van nieren en urineleider: “2 , HEK is the most common prenatal phenotype among the cases reported in the available literature (64/93, 68.8 %), while it may result from various renal abnormalities.”
Een bron meldt “72%” in de context van nieren en urineleider: “Renal cysts are present in about 72% of patients, hypomagnesemia in about 92%, and pancreatic hypoplasia in about 72% [ 21 ].”
Een bron meldt “62%” in de context van nieren en urineleider: “Hypomagnesemia and hypokalemia are commonly observed, occurring in 10-62% and 46% of patients, respectively [ 30 ].”
Een bron meldt “61%” in de context van nieren en urineleider: “As illustrated, renal manifestations are the most prevalent, with 61% to 91% of patients displaying at least one renal symptom listed in the figure.”
Een bron meldt “63%” in de context van algemeen: “HNF1B mutation-related MODY5 DM has been reported in 63% of patients with 17q12 deletion syndrome ( 9 ).”
Een bron meldt “21%” in de context van algemeen: “( 7 ) reported that three (21%) patients had neurologic findings of 14 patients with intragenic HNF1B mutations, one of which was a whole gene deletion, and the other two had missense mutations.”
Een bron meldt “86 patients” in de context van leren, taal en gedrag: “( 19 ) reported that three patients with 17q12 deletion in a large cohort of 86 patients with HNF1B gene abnormalities had developed autism, growth retardation and social interaction impairment over time.”
Een bron meldt “18%” in de context van nieren en urineleider: “Abnormal HNF1B was found in 18% of the 50 probands who had both uterine and renal abnormalities but in none of the 58 women with isolated uterine abnormalities.”
Een bron meldt “265 individuals” in de context van tumoutrisico: “To identify genetic variants associated with endometrial cancer risk, we performed a genome-wide association study involving 1,265 individuals with endometrial cancer (cases) from Australia and the UK and 5,190 controls from the Wellcome Trust Case...
Een bron meldt “24 patients” in de context van nieren en urineleider: “In 24 patients tested, there were cysts (≤5 per kidney) in 15, a solitary kidney in 5, hypokalemia in 11, and hypomagnesemia in 10 of 16 tested, all as characteristics pointing to HNF1B disease.”
Een bron meldt “27 patients” in de context van diabetes en stofwisseling: “Extrarenal phenotypes consisted of diabetes mellitus in 13 of the 27 patients, including 11 with MODY, abnormal liver tests in 8 of 21, diverse genital tract abnormalities in 5 of 13 females, and infertility in 2 of 14 males.”
Een bron meldt “461 patients” in de context van diabetes en stofwisseling: “We tested 461 patients with familial diabetes diagnosed before 45 years, including 258 probands who met clinical criteria for maturity-onset diabetes of the young (two generations affected and at least one family member diagnosed under 25 years).”
Een bron meldt “70 %” in de context van nieren en urineleider: “A supportive finding may be hypomagnesemia which occurs in up to 70 % of patients diagnosed with HNF1B related disease and hyperuricemia.Key words: HNF1B - MODY - RCAD - diabetes mellitus - cholestatic jaundice.”
Een bron meldt “289 cases” in de context van algemeen: “We put forward 27 SNPs from 15 novel regions and 12 SNPs previously reported, for replication in 710 case-parent triads and 289 cases and 290 controls.”
Een bron meldt “4.17%” in de context van algemeen: “In the present study, the frequency of chromosomal abnormalities in MCDK fetuses was 4.17% and all rearrangements were imbalanced aberrations.”
Een bron meldt “7 cases” in de context van nieren en urineleider: “Results of renal ultrasonography with or without magnetic resonance imaging, biochemical investigations, urine routine examination and other necessary investigations in 7 cases were analyzed.”
Een bron meldt “4 patients” in de context van nieren en urineleider: “All the 4 patients had renal structural abnormalities including bilateral multiple renal cysts, dysplasia and hyperechogenic kidneys.”
Een bron meldt “99.9%” in de context van algemeen: “HiFi sequencing is 99.9% accurate, with occasional low-frequency false base calls.”
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...
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.”
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.”
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.”
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...
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...
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.”
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 ].”
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 ].”
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”
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%).”
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...
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...
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 ].”
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...
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 ].”
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%).”
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 ].”
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%.”
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...
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%).”
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.”
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%).”
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.”
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 ).”
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.”
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 ).”
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...
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.”
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).”
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 .”
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 .”
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.”
Een bron meldt “52%” in de context van algemeen: “Also, 52%, 43% and 65% subjects reported recurrent ear infection, sinusitis, and bronchitis, respectively ( Fig.”
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%).”
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...
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 ].”
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 ].”
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).”
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.”
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 ].”
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.”
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.”
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.”
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.”
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.”
Een bron meldt “82%” in de context van diabetes en stofwisseling: “The participants with diabetes were predominantly European ancestry (82%) and with T1D (65%).”
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...
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 ).”
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...
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).”
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%).”
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.”
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.”
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.”
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.”
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.”
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).”
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...
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%).”
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%).”
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...
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).”
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 ].”
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.”