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Nutrition and malnutrition in chronic pancreatitis

Jacek Rysz, Magdalena Plewka, Krzysztof Kujawski
2018 SDRP Journal of Food Science & Technology  
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

Lyle R. Petersen, Stacie L. Marshall, Christine Barton, Rana A. Hajjeh, Mark D. Lindsley, David W. Warnock, Anil A. Panackal, Joseph B. Shaffer, Maryam B. Haddad, Frederick S. Fisher, David T. Dennis, Juliette Morgan
2004 Emerging Infectious Diseases  
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  
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

Paul Edgar Gray, Bella Shadur, Susan Russell, Richard Mitchell, Michael Buckley, Kerri Gallagher, Ian Andrews, Kevin Thia, Joseph A. Trapani, Edwin Philip Kirk, Ilia Voskoboinik
2017 Frontiers in Immunology  
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

Aideen M. McInerney‐Leo, Jennifer West, Lawrie Wheeler, Paul J. Leo, Kim M. Summers, Lisa Anderson, Matthew A. Brown, Malcolm West, Emma L. Duncan
2020 Molecular Genetics & Genomic Medicine  
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

Masaomi Kuwada, Yoshitomo Chihara, Yi Lou, Kazumasa Torimoto, Yoriaki Kagebayashi, Kenji Tamura, Taro Shuin, Kiyohide Fujimoto, Hiroki Kuniyasu, Shoji Samma
2014 BMC Research Notes  
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

Ehsan Razmara, Homeyra Azimi, Amirreza Bitaraf, Mohammad Ali Daneshmand, Mohammad Galehdari, Maryam Dokhanchi, Elika Esmaeilzadeh‐Gharehdaghi, Masoud Garshasbi
2020 Molecular Genetics & Genomic Medicine  
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

Keji Mao, Lijian Chen, Minhao Wang, Ruiji Xu, Xiaomin Zhao
2021 IET Image Processing  
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

Cüneyt Ozdemir, Mehmet Ali Gedik, Yılmaz Kaya
2021 Traitement du signal  
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

Lemuel Racacho, Ashley M Byrnes, Heather MacDonald, Helen J Dranse, Sarah M Nikkel, Judith Allanson, Elisabeth Rosser, T Michael Underhill, Dennis E Bulman
2015 European Journal of Human Genetics  
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

Jinlian Wang, Jun Liao, Jinglan Zhang, Wei-Yi Cheng, Jörg Hakenberg, Meng Ma, Bryn D. Webb, Rajasekar Ramasamudram-chakravarthi, Lisa Karger, Lakshmi Mehta, Ruth Kornreich, George A. Diaz (+3 others)
2015 Genome Medicine  
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

Chen-Chi Wu, Yin-Hung Lin, Ying-Chang Lu, Pei-Jer Chen, Wei-Shiung Yang, Chuan-Jen Hsu, Pei-Lung Chen, Andreas R. Janecke
2013 PLoS ONE  
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)

Xiaoyun Zeng, Xiaoming Wen, Xinxin Liang, Lina Wang, Lingling Xu
2020 BMC Medical Genetics  
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

J. C. Stevenson
1989 BMJ (Clinical Research Edition)  
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

Anila Rashid, Naureen Mushtaq, Huma Mansoori
2020 Cureus  
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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