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Nutrition and malnutrition in chronic pancreatitis
2018
SDRP Journal of Food Science & Technology
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If, dietary intake is insufficient to meet requirements over a more pro-longed period of time the body draws on functional reserves in tissues such as muscle, adipose tissue and bone leading to changes ...
Assessment of nutrition status should include a multidisciplinary approach, including assessment of clinical symptoms, exocrine and endocrine pancreatic function, body composition, bone health, dietary ...
doi:10.25177/jfst.3.5.5
fatcat:tgwuvseidvdhtooogq5scdj4ou
Coccidioidomycosis among Workers at an Archeological Site, Northeastern Utah
2004
Emerging Infectious Diseases
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Their mean age was 43 years; 26 (65%) were male. ...
Therefore, all persons meeting the clinical case definition, and none of the noncasepatients were present at the sifting on June 19 ( Figure 2 ) (p = 0.00002). ...
doi:10.3201/eid1004.030446
pmid:15200853
pmcid:PMC3323065
fatcat:y742kma6mjfkvlfs6kp6ueng7e
Chemotherapy of Cancer
1962
Nature
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Society for Applied Bacteriology AT the annual meeting of the Society for Applied Bacteriology, held in Sutton Bonington on .July 17, the following were elected officers of the Society: ...
The results indicate that, for most age groups, the average amounts of strontium-90 in bone during the first half of 1961 were approximately the same as in the second half of 1960, but for the important ...
It is based on the evidence presented to the symposium, which was studied and carefully sifted by seven working parties. ...
doi:10.1038/195653d0
fatcat:htumyzfdivbqvfctjaa3dmh224
Late-Onset Non-HLH Presentations of Growth Arrest, Inflammatory Arachnoiditis, and Severe Infectious Mononucleosis, in Siblings with Hypomorphic Defects in UNC13D
2017
Frontiers in Immunology
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Following allogeneic bone marrow transplantation at the age of 15, the older child has completely recovered NK cell cytotoxicity, is asymptomatic, and has experienced an exceptional compensatory growth ...
The older sibling presented aged 11 with linear growth arrest and delayed puberty, 2 years prior to developing transient ischemic attacks secondary to neuroinflammation and hypogammaglobulinemia, but no ...
FIGURe 1 | 1 Patient 1 prior to bone marrow transplantation (BMT). (a) Patient 1 suffered growth arrest between the ages of 11 and 15. Following BMT, the patient has grown by over 8 cm. ...
doi:10.3389/fimmu.2017.00944
pmid:28848550
pmcid:PMC5552658
fatcat:7x6midjzzbd2rienwvjplnkq5a
Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome
2020
Molecular Genetics & Genomic Medicine
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A large kindred with MFS was assessed clinically over decades, and genetically using exome and/or Sanger sequencing. ...
These three compound heterozygous individuals had aortic dilatation at early age (all <30 years): one also had cerebral and ocular aneurysms; and one, who had undergone surgical repair aged 18 years, died ...
They had normal echocardiograms when last assessed (at ages 39 years, 11 years, and 8 years). ...
doi:10.1002/mgg3.1116
pmid:31950671
pmcid:PMC7057098
fatcat:ioce3yi2jzffpj53f6njhlgm4a
Novel missense mutation in the FH gene in familial renal cell cancer patients lacking cutaneous leiomyomas
2014
BMC Research Notes
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Functional prediction with the bioinformatics programs, SIFT and Polyphen-2, reported "damaging (SIFT score 0.00)" and "probably damaging (PSIC score 1.621)" values, respectively. ...
Minor criteria: 1) surgical treatment for severely symptomatic uterine leiomyomas before age 40, 2) type 2 papillary renal cell carcinoma before age 40, and 3) a firstdegree family member who meets one ...
Functional prediction of FH mutation in silico The impact of the (p.D341N) missense mutation on protein function was assessed with SIFT and PolyPhen-2. ...
doi:10.1186/1756-0500-7-203
pmid:24684806
pmcid:PMC3978052
fatcat:vxz3nlq45ngk7c5urawpkixtnq
Whole‐exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis
2020
Molecular Genetics & Genomic Medicine
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Taken together, the novel nonsense CTSK variant meets the criteria of being likely pathogenic according to the American College of Medical Genetics and Genomics-the Association for Molecular Pathology ...
Features
IV.1
Age at initial assessment/age at
molecular assessment
17/20
Gender
Male
Father age at conception
31
Weight at birth
Below 5th percentile
(3.1 ± 0.01 kg)
Height at birth ...
Below 5th percentile
(45.2 ± 0.10 cm)
Head circumference at birth
36.3 ± 0.10 cm
Height at assessment
137 ± 0.10 cm
Weight at assessment
34 ± 0.01 kg
Sexual maturity rating
Stage IV
Short ...
doi:10.1002/mgg3.1118
pmid:31944631
pmcid:PMC7057126
fatcat:u5jlohymwfhhldguwlnsrabsx4
Classification of hand‐wrist maturity level based on similarity matching
2021
IET Image Processing
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Judging the maturity level of each hand-wrist reference bone is the core issue in bone age assessment. ...
Relying on the superiority of convolutional neural networks in feature representation, deep learning is widely studied for the automatic bone age assessment. ...
Therefore, the scoring method has more clinical use in bone age assessment [8] . ...
doi:10.1049/ipr2.12273
fatcat:2qqniw3cznadpkvlduhg76pxsu
Age Estimation from Left-Hand Radiographs with Deep Learning Methods
2021
Traitement du signal
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Bone age is estimated in pediatric medicine for medical and legal purposes. In pediatric medicine, it aids in the growth and development assessment of various diseases affecting children. ...
In such cases, radiologists or forensic medicine specialists conduct bone age estimation from left hand-wrist radiographs using atlas methods that require time and effort. ...
Age determination is one of the most critical elements of identification. The most commonly used method in age determination is bone age (BA) assessment [1] . ...
doi:10.18280/ts.380601
fatcat:vssanu5ppfe4rjal477rhxvmr4
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1
2015
European Journal of Human Genetics
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SIFT: sift.jcvi.org/. SplicePort: spliceport.cbcb. umd.edu/. VAST: http://structure.ncbi.nlm.nih.gov/Structure/VAST/. ...
Sequence variants meeting this criterion were evaluated for pathogenicity using PolyPhen-2 V2.2.2 and SIFT. ...
The length of each hand bone, excluding the wrist bones, was measured using the software ANTRO 39 and adjusted for age and sex as described previously. 40 Tubular hand bones with a SD ≤ − 2 were classified ...
doi:10.1038/ejhg.2015.38
pmid:25758993
pmcid:PMC4795202
fatcat:ggjslfsrnvaybcm33bfcfmk7aa
ClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories
2015
Genome Medicine
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A dashboard was deployed to aid a multi-step, hierarchical review process leading to final clinical decisions on genetic variant assessment. ...
We describe a tool named ClinLabGeneticist to implement a workflow in clinical laboratories for management of variant assessment in genetic testing and disease diagnosis. ...
The patient had a bone marrow transplantation at 2 years of age due to transfusion-dependent hemolytic anemia and severe cutaneous involvement associated with CEP. ...
doi:10.1186/s13073-015-0207-6
pmid:26338694
pmcid:PMC4558641
fatcat:2dgtmdtofngotlbta7ijwx6b3q
Application of Massively Parallel Sequencing to Genetic Diagnosis in Multiplex Families with Idiopathic Sensorineural Hearing Impairment
2013
PLoS ONE
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Initial data filtering with allele frequencies (,5% in the 1000 Genomes Project and 5400 NHLBI exomes) and PolyPhen2/SIFT scores (.0.95) prioritized 5 indels (insertions/deletions) and 36 missense variants ...
In contrast, for missense variants, PolyPhen2 and SIFT (http://sift.jcvi.org/) were used to assess the effect on the protein. ...
Both probands exhibited normal temporal bone imaging results. The SIFT and PolyPhen2 scores of GJB4 p.C169W were 1.00 ( Table 2 ). ...
doi:10.1371/journal.pone.0057369
pmid:23451214
pmcid:PMC3579845
fatcat:yz53xeqbgverpmfcyvll6zwgam
A case report of Proteus syndrome (PS)
2020
BMC Medical Genetics
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For the analysis of the bone age, the head and hook bones were enlarged, and the fifth metacarpal ossification center was visible. The dermatoscopy indicated mild papillary hyperplasia. ...
According to the auxiliary examinations, normal findings were obtained from the blood and urine routine tests, the liver and kidney function assessments, and the blood electrolyte and bone metabolism detections ...
doi:10.1186/s12881-020-0949-x
pmid:31964351
fatcat:lb7nstbwmbdxbekdqntayg4ay4
Calcium supplementation of the diet
1989
BMJ (Clinical Research Edition)
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There are, however, no accurate data to show exactly what calcium intake is needed to optimise or maintain bone density at any age. ...
In addition, if it were a teaching hospital what would happen to its service increment for teaching (SIFT)? ...
doi:10.1136/bmj.298.6679.1034
pmid:2499381
pmcid:PMC1836346
fatcat:t7b447ejkzanrgshv3kkmz67yu
Congenital Thrombotic Thrombocytopenic Purpura With a Novel ADAMTS13 Gene Mutation
2020
Cureus
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He then went through a series of laboratory investigations until at the age of seven years, when the ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13) antigen ...
In this case, a definitive diagnosis was delayed until the age of eight years when a novel homozygous pathogenic frameshift variant ADAMTS13 c.3033delC, p.Cys1012AlafsX109 in exon 23 was identified. ...
At the age of six months, bone marrow aspirate and trephine were performed that exhibited erythroid hyperplasia with adequate megakaryopoiesis consistent with MAHA. ...
doi:10.7759/cureus.12053
pmid:33447482
pmcid:PMC7802116
fatcat:6zdmfcwaovcotazzawrtwwsmty
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