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Journal of Nutritional Science 2023The present study aims to develop a quantitative food frequency questionnaire (FFQ) to assess free sugar intake as a whole and at the food group levels, retrospectively,...
The present study aims to develop a quantitative food frequency questionnaire (FFQ) to assess free sugar intake as a whole and at the food group levels, retrospectively, over the past 3 months among 4 to 5-year-old preschool children in the Colombo district, Sri Lanka. Then, to assess its reliability and relative validity. In the development phase, three 24-hour dietary recalls (24 hDRs) of 518 preschool children were collected from caregivers. Based on that, a 67-item FFQ was developed, including commonly consumed free sugar-containing food items. The validation study was conducted among another 108 preschool children. The relative validity of the FFQ was assessed by comparing it with the 24 hDRs. The test-retest reliability was assessed by repeated application of the FFQ to the same population after 6 weeks. Wilcoxon sign rank test, cross-classification with weighted Kappa statistic, Spearman rank correlation and Bland-Altman plots were used for comparison. Comparing the free sugar intake calculated by the two methods showed no difference ( = 0⋅13), a good correlation (0⋅89), good agreement in cross-classifying participants (78⋅4 % correctly classified) and a good agreement in Bland-Altman plots. Repeated application of the FFQ yielded; no differences in free sugar intake values ( = 0⋅45) a good correlation (0⋅71), acceptable agreement in cross-classifying participants (52⋅3 % correctly classified) and acceptable agreement in the Bland-Altman plot. Results were the same for all food groups. According to the results, the newly developed quantitative FFQ provides a relatively valid and reliable measure for quantifying free sugar intake among preschool children as a whole or by food group.
Topics: Humans; Child, Preschool; Sri Lanka; Reproducibility of Results; Retrospective Studies; Surveys and Questionnaires; Sugars
PubMed: 36843966
DOI: 10.1017/jns.2023.5 -
Molecular Genetics and Metabolism... Mar 2024Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome (Barakat syndrome) is a rare autosomal dominant disorder caused by mutations in the gene...
BACKGROUND
Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome (Barakat syndrome) is a rare autosomal dominant disorder caused by mutations in the gene encoding on chromosome 10p14.
METHOD
Informed consent was obtained from a 38-year-old female patient. 5 mL of venous blood was collected and sent for whole-exome sequencing. constructs of both wild-type and mutant were transfected into HEK-293 T cells. Three-dimensional modeling, luciferase-reporter gene test, western blotting and cellular immunofluorescence were used to evaluate the effect of the mutation.
RESULTS
A novel frameshift mutation c. 677dup(p.Pro227AlafsTer77), named P227Afs, was found in . Three-dimensional modeling revealed that the mutation caused the loss of the dual zinc finger structures 1 and 2 (ZNF1 and ZNF2) of the synthesized protein. Expression of wild-type GATA3 produced a six-fold increase in luciferase activity when compared with pcDNA3.1 vector only ( < 0.001), whereas the P227Afs mutant showed no increase. The mutation significantly reduced the transcriptional activity of . Immunofluorescence and western blotting analyses demonstrated that the mutation changed the nuclear location of GATA3 and caused difficulty in nuclearization.
CONCLUSION
A novel heterozygous frameshift mutation in was identified and showed to result in difficult nuclearization, and a dominant-negative effect on the wild-type.
PubMed: 38469092
DOI: 10.1016/j.ymgmr.2024.101063 -
BMC Medical Genetics Oct 2017Hypoparathyroidism, sensorineural hearing loss, and renal disease (HDR) syndrome, also known as Barakat syndrome, is a rare genetic disorder with high phenotypic...
BACKGROUND
Hypoparathyroidism, sensorineural hearing loss, and renal disease (HDR) syndrome, also known as Barakat syndrome, is a rare genetic disorder with high phenotypic heterogeneity caused by haploinsufficiency of the GATA3 gene on chromosome 10p14-p15. For these reasons, the diagnosis of HDR syndrome is challenging and requires a high index of suspicion as well as genetic analysis.
CASE PRESENTATION
A 14-month-old boy, with sensorineural hearing loss in both ears, showed typical radiological features of X-linked stapes gusher on preoperative temporal bone computed tomography (CT) for cochlear implantations. Then after his discharge from hospital, he suffered a hypocalcemic seizure and we discovered a renal cyst during investigation of hypocalcemia. He was finally diagnosed with HDR syndrome by clinical findings, which were confirmed by molecular genetic testing. Direct sequencing of the GATA3 gene showed a heterozygous 2-bp deletion (c.1201_1202delAT), which is predicted to cause a frameshift of the reading frame (p.Met401Valfs*106).
CONCLUSIONS
To our knowledge, this is the first case of HDR syndrome with a novel de novo variant mimicking a congenital X-linked stapes gusher syndrome. Novel mutations and the diversity of clinical manifestations expand the genotypic and phenotypic spectrum of HDR syndrome. Diagnosis of HDR syndrome is still challenging, but clinicians should consider it in their differential diagnosis for children with a wide range of clinical manifestations including hypocalcemia induced seizures and deafness. We hope that this case will contribute to further understanding and studies of HDR-associated GATA3 mutations.
Topics: Chromosomes, Human, Pair 10; Cochlear Implantation; Diagnosis, Differential; Frameshift Mutation; GATA3 Transcription Factor; Gene Expression; Genetic Diseases, X-Linked; Haploinsufficiency; Hearing Loss, Conductive; Hearing Loss, Sensorineural; Heterozygote; Humans; Hypoparathyroidism; Infant; Male; Nephrosis; Tomography, X-Ray Computed
PubMed: 29073906
DOI: 10.1186/s12881-017-0484-6 -
Yonsei Medical Journal Jan 2015Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is a rare condition inherited as autosomal dominant trait and characterized by hypoparathyroidism,...
Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is a rare condition inherited as autosomal dominant trait and characterized by hypoparathyroidism, sensorineural deafness, and renal dysplasia. HDR syndrome is caused by haploinsufficiency of the GATA3 gene located on chromosome 10p15. Here, we report the case of a 32-day-old Korean male with HDR syndrome. He was presented due to repeated seizures over previous 3 days. The patient was born after 40 weeks of gestation with birth weight of 2930 g, and was the first-born baby of healthy Korean parents. Hypoparathyroidism was first noticed due to seizure. A multicystic left dysplastic kidney and vesicoureteral reflux were detected by ultrasound after birth. Auditory brainstem response (ABR) testing revealed that the patient had moderate sensorineural deafness, with hearing losses of 80 dB at the mid and higher frequencies for both ears. Echocardiography finding revealed secundum atrial septal deftect. Based on biochemical results and clinical findings, a presumptive diagnosis of HDR syndrome was made. GATA3 mutation analysis identified a heterozygous deletion, c.153del (p.Phe51Leufs*144) in exon 1 causing a frameshift mutation, which is a novel de novo mutation. Therefore, we suggest that HDR syndrome should be considered in the differential diagnosis in symptomatic or asymptomatic patients with hypoparathyroidism, and that renal ultrasound or ABR testing be performed to prevent a missed diagnosis. This is the first report on Korean patient with confirmed HDR syndrome with novel mutation.
Topics: Base Sequence; DNA Mutational Analysis; GATA3 Transcription Factor; Hearing Loss, Sensorineural; Heterozygote; Humans; Hypoparathyroidism; Infant, Newborn; Kidney; Male; Molecular Sequence Data; Nephrosis; Reproducibility of Results; Republic of Korea; Sequence Deletion; Ultrasonography
PubMed: 25510779
DOI: 10.3349/ymj.2015.56.1.300 -
Journal of Nutritional Science 2022All dietary assessment methods inevitably introduce measurement errors, which should ideally be considered during data analysis and interpretation. Methodological...
All dietary assessment methods inevitably introduce measurement errors, which should ideally be considered during data analysis and interpretation. Methodological studies should be conducted to address how well a given assessment method captures dietary intake and to highlight the extent and direction of the measurement error. Within a subgroup of the Hordaland Health Study (HUSK3), we examined the relative validity of a web-based food frequency questionnaire (WebFFQ) by comparing its estimates of mean daily intake of nutrients and foods with estimated mean daily intakes from repeated administrations of 24-hour dietary recall interviews (24-HDRs). Men and women born between 1950 and 1951 were recruited from HUSK3. The participants ( 67) completed a WebFFQ and three non-consecutive 24-HDRs over the course of a year. Relative validity was assessed using Spearman's rank correlation, crosstab analysis and Bland-Altman plots. Linear regression models were used to compute the calibration coefficients. The estimated correlation coefficients were acceptable or strong for all nutrients and foods except iodine ( = 0⋅19). The highest correlation coefficient was found for juice ( = 0⋅71), whereas the lowest correlation coefficient was found for iodine ( = 0⋅19). Cross-classification by quartiles categorised more than 72 % of the participants into the same or adjacent quartiles using the two methods. Few data points fell outside the limits of agreement in the Bland-Altman plots. Calibration coefficients ranged from 0⋅10 (wholegrain) to 0⋅81 (alcohol). Our findings suggest that the WebFFQ has reasonable ranking abilities for all the included nutrients and foods, except for iodine.
Topics: Humans; Male; Female; Reproducibility of Results; Surveys and Questionnaires; Eating; Iodine; Internet
PubMed: 36405094
DOI: 10.1017/jns.2022.97 -
Indian Pediatrics Aug 2018HDR syndrome (also known as Barakat syndrome) is a rare genetic disorder due to deletions/mutations on specific regions of zinc-finger transcription factor (GATA3) gene.
BACKGROUND
HDR syndrome (also known as Barakat syndrome) is a rare genetic disorder due to deletions/mutations on specific regions of zinc-finger transcription factor (GATA3) gene.
CASE CHARACTERISTICS
A male preterm infant presented with multiple dysmorphic features characterized by small for gestational age, hypognathia and facial abnormalities.
OBSERVATION
Investigations revealed hypocalcemia and low parathyroid hormone levels and bilateral sensorineural deafness.
OUTCOME
Chromosomal microarray analysis revealed a combination of deletion on chromosome 10p (10p15.3p14) with loss of GATA3 gene and duplication of chromosome 20p (20p13p12.3) as a result of unbalanced 10:20 translocation.
MESSAGE
Detecting this syndrome at neonatal age is very important because it allows early intervention to minimize future clinical problems.
Topics: Base Sequence; Chromosomes, Human, Pair 10; Chromosomes, Human, Pair 20; GATA3 Transcription Factor; Genetic Markers; Hearing Loss, Sensorineural; Humans; Hypoparathyroidism; Infant, Newborn; Infant, Premature; Infant, Premature, Diseases; Male; Nephrosis; Sequence Deletion; Trisomy
PubMed: 30218523
DOI: No ID Found -
Frontiers in Endocrinology 2023The HDR syndrome is a rare autosomal dominant disorder characterised by Hypoparathyroidism, Deafness, and Renal dysplasia, and is caused by inactivating heterozygous...
The HDR syndrome is a rare autosomal dominant disorder characterised by Hypoparathyroidism, Deafness, and Renal dysplasia, and is caused by inactivating heterozygous germline mutations in the gene. We report an 11-year-old girl with HDR syndrome caused by a heterozygous mutation located at the splice acceptor site of exon 5 of the gene (NM_001002295.2: c.925-1G>T). Functional studies using a minigene assay showed that this splice site mutation abolished the normal splicing of the pre-mRNA and led to the use of a cryptic splice acceptor site, resulting in the loss of the first seven nucleotides (TCTGCAG) of exon 5 in the mRNA. These findings increase the understanding of the mechanisms by which splicing mutations can cause HDR syndrome.
Topics: Female; Humans; Child; RNA Splice Sites; Hypoparathyroidism; Mutation; Deafness; GATA3 Transcription Factor
PubMed: 37600721
DOI: 10.3389/fendo.2023.1207425 -
BMJ Case Reports Jul 2015The case of a patient with clinical symptoms, laboratory and imaging findings of hypoparathyroidism, sensorineural deafness, renal dysplasia HDR, or Barakat syndrome...
The case of a patient with clinical symptoms, laboratory and imaging findings of hypoparathyroidism, sensorineural deafness, renal dysplasia HDR, or Barakat syndrome (hypoparathyroidism, deafness, renal dysplasia), and vitamin D deficiency, is presented. A Caucasian man aged 51 years with a history of chronic hypocalcaemia since childhood, was admitted with hypertonia of the body and extremities, and loss of consciousness. On admission, he was found to have severe hypocalcaemia, hyperphosphataemia, severe hypoparathyroidism, low serum magnesium and mild renal insufficiency. Calcium gluconate was administered intravenously supplemented with magnesium, and the patient recovered consciousness while clinical and laboratory findings improved. Evaluation revealed left renal aplasia and sensorineural deafness affecting both ears. Vitamin D deficiency was also present. He was given calcium and vitamin D supplements orally, and the hypocalcaemia was corrected. This case is described as it is an extremely rare case of HDR syndrome with concurrent vitamin D deficiency.
Topics: Calcium Gluconate; Fluid Therapy; Hearing Loss, Sensorineural; Humans; Hypoparathyroidism; Kidney; Male; Middle Aged; Nephrosis; Renal Insufficiency; Treatment Outcome; Vitamin D; Vitamin D Deficiency; Vitamins
PubMed: 26156834
DOI: 10.1136/bcr-2014-208290 -
Nutrients May 2023The food frequency questionnaire (FFQ) is designed to capture an individual's habitual dietary intake and is the most applied method in nutritional epidemiology. Our aim...
The food frequency questionnaire (FFQ) is designed to capture an individual's habitual dietary intake and is the most applied method in nutritional epidemiology. Our aim was to assess the relative validity and reproducibility of the FFQ used in the Diet, Cancer, and Health-Next Generations cohort (DCH-NG). We included 415 Danish women and men aged 18-67 years. Spearman's correlations coefficients, Bland-Altman limits of agreement and cross-classification between dietary intakes estimated from the FFQ administered at baseline (FFQ), and the mean of three 24-h dietary recalls (24-HDRs) and the FFQ administered after 12 months (FFQ) were determined. Nutrient intakes were energy-adjusted by Nutrient Density and Residual methods. Correlation coefficients ranged from 0.18-0.58 for energy and energy-adjusted nutrient intakes, and the percentage of participants classified into the same quartile ranged from 28-47% between the FFQ and the 24-HDRs. For the FFQ compared with FFQ, correlation coefficients ranged from 0.52-0.88 for intakes of energy, energy-adjusted nutrients, and food groups, and the proportion of participants classified into the same quartiles ranged from 43-69%. Overall, the FFQ provided a satisfactory ranking of individuals according to energy, nutrient, and food group intakes, making the FFQ suitable for use in epidemiological studies investigating diet in relation to disease outcomes.
Topics: Male; Humans; Female; Reproducibility of Results; Surveys and Questionnaires; Diet; Energy Intake; Diet Records; Diet Surveys; Neoplasms; Denmark; Internet
PubMed: 37242272
DOI: 10.3390/nu15102389 -
Chinese Medical Journal Mar 2017Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is an autosomal dominant disorder primarily caused by haploinsufficiency of GATA binding protein 3 (GATA3)...
BACKGROUND
Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is an autosomal dominant disorder primarily caused by haploinsufficiency of GATA binding protein 3 (GATA3) gene mutations, and hearing loss is the most frequent phenotypic feature. This study aimed at identifying the causative gene mutation for a three-generation Chinese family with HDR syndrome and analyzing auditory phenotypes in all familial HDR syndrome cases.
METHODS
Three affected family members underwent otologic examinations, biochemistry tests, and other clinical evaluations. Targeted genes capture combining next-generation sequencing was performed within the family. Sanger sequencing was used to confirm the causative mutation. The auditory phenotypes of all reported familial HDR syndrome cases analyzed were provided.
RESULTS
In Chinese family 7121, a heterozygous nonsense mutation c.826C>T (p.R276*) was identified in GATA3. All the three affected members suffered from sensorineural deafness and hypocalcemia; however, renal dysplasia only appeared in the youngest patient. Furthermore, an overview of thirty HDR syndrome families with corresponding GATA3 mutations revealed that hearing impairment occurred earlier in the younger generation in at least nine familial cases (30%) and two thirds of them were found to carry premature stop mutations.
CONCLUSIONS
This study highlights the phenotypic heterogeneity of HDR and points to a possible genetic anticipation in patients with HDR, which needs to be further investigated.
Topics: Child; Female; GATA3 Transcription Factor; Genotype; Hearing Loss; Hearing Loss, Sensorineural; High-Throughput Nucleotide Sequencing; Humans; Hypoparathyroidism; Male; Mutation; Nephrosis; Pedigree
PubMed: 28303854
DOI: 10.4103/0366-6999.201600