coding for the envelope glycoproteins occurred earlier in cells infected with isolate 10/154 than in cells infected with strain 07/435, demonstrating a distinct difference between the strains. Differences in serological response can be attributed to differences in the expression of antigenic proteins or to post-translational modifications that mask neutralizing epitopes. Strain 07/435 induced significantly high titers of neutralizing antibodies in several animal species in addition to bovines. The most relevant serological differences were observed in adult animals. This is the first comprehensive analysis of the expression kinetics of genes coding for BoHV-4 glycoproteins in 2 Argentine strains (genotypes 1 and 2). The results further elucidate the BoHV-4 life cycle and may also help determine the genetic variability of the strains circulating in Argentina.]]>
Adult ; Animals ; Antibodies ; Antibodies, Neutralizing ; Argentina ; Cattle ; Clinical Coding ; Epitopes ; Glycoproteins ; Glycosylation ; Humans ; In Vitro Techniques ; Kinetics ; Life Cycle Stages ; Masks ; Protein Processing, Post-Translational ; Transcriptome ; Virion

BACKGROUND: In the Emergency Department (ED), diagnosis and management of anaphylaxis are challenging with at least 50% of anaphylaxis episodes misdiagnosed when the diagnostic criteria of current guidelines are not used.OBJECTIVE: Objective of our study was to assess anaphylaxis diagnosis and management in patients presenting to the ED.METHODS: Retrospective chart review conducted on patients presenting to The Medical City Hospital ED, the Philippines from 2013–2015 was done. Cases were identified based on International Statistical Classification of Diseases, 10th revision coding for either anaphylaxis or other allergic related diagnosis. Cases fitting the definition of anaphylaxis as identified by the National Institute of Allergy and Infectious Disease and the Food Allergy and Anaphylaxis Network (NIAID/FAAN) were included. Data collected included demographics, signs and symptoms, triggers and management.RESULTS: A total of 105 cases were evaluated. Incidence of anaphylaxis for the 3-year study period was 0.03%. Of the 105 cases, 35 (33%) were diagnosed as “urticaria” or “hypersensitivity reaction” despite fulfilling the NIAID/FAAN anaphylaxis criteria. There was a significant difference in epinephrine administration between those given the diagnosis of anaphylaxis versus misdiagnosed cases (61 [87%] vs. 12 [34%], χ² = 30.77, p < 0.01); and a significant difference in time interval from arrival at the ED to epinephrine administration, with those diagnosed as anaphylaxis (48%) receiving epinephrine within 10 minutes, versus ≥ 60 minutes for most of the misdiagnosed group (χ² = 52.97, p < 0.01).CONCLUSION: Despite current guidelines, anaphylaxis is still misdiagnosed in the ED. Having an ED diagnosis of anaphylaxis significantly increases the likelihood of epinephrine administration, and at a shorter time interval.
Anaphylaxis ; Classification ; Clinical Coding ; Communicable Diseases ; Demography ; Diagnosis ; Emergencies ; Emergency Service, Hospital ; Epinephrine ; Food Hypersensitivity ; Hospitals, Urban ; Humans ; Hypersensitivity ; Incidence ; Philippines ; Retrospective Studies ; Tertiary Care Centers

OBJECTIVES: To investigate the genetic causes of hearing loss with enlarged vestibular aqueduct (EVA) in two children from unrelated two Chinese families. METHODS: Sanger sequencing of all coding exons in SLC26A4 (encoding Pendrin protein) was performed on the two patients, their sibling and parents respectively. To predict and visualize the potential functional outcome of the novel variant, model building, structure analysis, and in silico analysis were further conducted. RESULTS: The results showed that the proband from family I harbored a compound heterozygote of SLC26A4 c.1174A>T (p.N392Y) mutation and c.1181delTCT (p.F394del) variant in exon 10, potentially altering Pendrin protein structure. In family II, the proband was identified in compound heterozygosity with a known mutation of c.919-2A>G in the splice site of intron 7 and a novel mutation of c.1023insC in exon 9, which results in a frameshift and translational termination, consequently leading to truncated Pendrin protein. Sequence homology analysis indicated that all the mutations localized at high conservation sites, which emphasized the significance of these mutations on Pendrin spatial organization and function. CONCLUSION: In summary, this study revealed two compound heterozygous mutations (c.1174A>T/c.1181delTCT; c.919- 2A>G/c.1023insC) in Pendrin protein, which might account for the deafness of the two probands clinically diagnosed with EVA. Thus this study contributes to improve understanding of the causes of hearing loss associated with EVA and develop a more scientific screening strategy for deafness.
Asian Continental Ancestry Group ; Child ; Clinical Coding ; Computer Simulation ; Deafness ; Exons ; Extravehicular Activity ; Frameshift Mutation ; Hearing Loss ; Heterozygote ; Humans ; Introns ; Mass Screening ; Parents ; Sequence Homology ; Siblings ; Vestibular Aqueduct

OBJECTIVE: Vitamin D-binding protein (VDBP) mediates various biological processes in humans. The goal of this study was to investigate whether VDBP gene polymorphisms could predispose Korean women to endometriosis. METHODS: We prospectively enrolled women with endometriosis (n = 16) and healthy controls (n = 16). Total serum 25-hydroxyl vitamin D (25(OH)D) concentrations were measured using an Elecsys vitamin D total kit. Levels of bioavailable and free 25(OH)D were calculated. Concentrations of VDBP were measured using a vitamin D BP Quantikine ELISA kit. DNA was extracted using a DNeasy blood & tissue kit. Two single-nucleotide polymorphisms (SNPs; rs4588 and rs7041) in GC, the gene that codes for VDBP, were analyzed using a TaqMan SNP genotyping assay kit. The functional variant of VDBP was determined based on the results of the two SNPs. RESULTS: Gravidity and parity were significantly lower in the endometriosis patients than in the control group, but serum CA-125 levels and the erythrocyte sedimentation rate were significantly higher. Total serum 25(OH)D levels in the endometriosis patients were significantly lower than in the control group. However, serum bioavailable 25(OH)D, free 25(OH)D, and VDBP levels did not differ significantly between the endometriosis and control groups. The genotypes and allele frequencies of GC were similar in both groups. CONCLUSION: Korean women with endometriosis had lower total serum 25(OH)D concentrations than controls. Neither serum VDBP concentrations nor polymorphisms in the gene coding for VDBP were associated with endometriosis. Further studies are needed to investigate the pathophysiology and clinical implications of 25(OH)D and VDBP in endometriosis.
Biological Processes ; Blood Sedimentation ; Clinical Coding ; DNA ; Endometriosis ; Enzyme-Linked Immunosorbent Assay ; Female ; Gene Frequency ; Genotype ; Gravidity ; Humans ; Parity ; Polymorphism, Genetic ; Polymorphism, Single Nucleotide ; Prospective Studies ; Vitamin D ; Vitamin D-Binding Protein ; Vitamins

BACKGROUND: Medicines and Healthcare products Regulatory Agency (MHRA) guidance for patients with metal-on-metal (MoM) hip replacements was provided in 2012 and updated in 2017 to assist in the early detection of soft-tissue reactions due to metal wear debris. A large number of MoM hip replacements were undertaken at our hospital trust. A program of recall for all patients with MoM hip replacements was undertaken and MHRA guidelines were implemented. In this study, we aimed to investigate the effectiveness of the revised MHRA guidelines in the detection of early adverse reactions to metal debris and to re-evaluate the indications for metal artifact reduction sequence magnetic resonance imaging (MARS-MRI) and revision surgery. METHODS: Identification and recall of all patients with MoM hip replacements from 2001 were conducted by using theatre logs, patient records, clinical coding information, and consultant logbooks. Two senior arthroplasty consultants reviewed X-rays and patient records. Postal questionnaires were forwarded to patients, together with requests for general practitioners to complete cobalt and chromium blood tests. The two consultant-led review of MOM replacements was undertaken with further radiological investigations (X-rays, MARS-MRI) performed according to the 2017 guidance with support of consultant radiologists. RESULTS: Of 674 identified patients, 297 were available for review: 26 patients did not have MoM implants, 36 were untraceable, 59 refused follow-up, 87 moved out of area, 147 had died, and 22 already had revision. Of 297 patients, 126 were women and 171 were men; age range was 39 to 95 years (mean age, 69 years); 126 had resurfacing and 171 had MoM replacements. Twenty-six patients had elevated metal ions. Thirty-three patients underwent MARS-MRI: MARS-MRI results were positive in 17 and negative in 16. Of 17 patients with positive MARS-MRI, 10 patients were asymptomatic and seven were waiting revision. CONCLUSIONS: Positive MARS-MRI can often occur in the absence of elevated metal ion levels; elevated blood metal ion levels do not mean MARS-MRI will be positive. All patients with MoM replacements were at risk. It is imperative to assess patients regularly for symptoms that may raise clinical suspicion and maintain a low threshold to performing MARS-MRI.
Arthroplasty ; Artifacts ; Chromium ; Clinical Coding ; Cobalt ; Consultants ; Delivery of Health Care ; Female ; Follow-Up Studies ; General Practitioners ; Hematologic Tests ; Hip ; Hospitals, District ; Humans ; Ions ; Magnetic Resonance Imaging ; Male

BACKGROUND: It is not possible to measure how much activity is required to understand and code a medical data. We introduce an assessment method in clinical coding, and applied this method to neurosurgical terms.METHODS: Coding activity consists of two stages. At first, the coders need to understand a presented medical term (informational activity). The second coding stage is about a navigating terminology browser to find a code that matches the concept (code-matching activity). Systematized Nomenclature of Medicine – Clinical Terms (SNOMED CT) was used for the coding system. A new computer application to record the trajectory of the computer mouse and record the usage time was programmed. Using this application, we measured the time that was spent. A senior neurosurgeon who has studied SNOMED CT has analyzed the accuracy of the input coding. This method was tested by five neurosurgical residents (NSRs) and five medical record administrators (MRAs), and 20 neurosurgical terms were used.RESULTS: The mean accuracy of the NSR group was 89.33%, and the mean accuracy of the MRA group was 80% (p=0.024). The mean duration for total coding of the NSR group was 158.47 seconds, and the mean duration for total coding of the MRA group was 271.75 seconds (p=0.003).CONCLUSION: We proposed a method to analyze the clinical coding process. Through this method, it was possible to accurately calculate the time required for the coding. In neurosurgical terms, NSRs had shorter time to complete the coding and higher accuracy than MRAs.
Animals ; Clinical Coding ; Humans ; Medical Informatics ; Medical Record Administrators ; Methods ; Mice ; Neurosurgeons ; Systematized Nomenclature of Medicine

Steatocystoma multiplex is an uncommon benign skin disease, which typically manifests as numerous intradermal cysts that can be scattered anywhere on the body. Although usually asymptomatic, it can be significantly disfiguring. One type of steatocystoma multiplex is known to be associated with the autosomal dominant inheritance of a mutation in the gene coding for keratin 17 (KRT17). In such cases, it is often concurrent with other developmental abnormalities of the ectoderm-derived tissues, such as the nails, hair, and teeth. To the best of our knowledge, few cases have been reported of steatocystoma multiplex of the oral and maxillofacial region. This report describes a case of steatocystoma multiplex of both sides of the neck and multiple dental anomalies, with a focus on its clinical, radiological, and histopathological characteristics, as well as the possibility that the patient exhibited the familial type of this condition.
Clinical Coding ; Hair ; Humans ; Keratin-17 ; Neck ; Skin Diseases ; Steatocystoma Multiplex ; Tooth ; Wills

PURPOSE: This qualitative study aimed to develop a substantive theory of the process of adaptation to motherhood in Central Asian-Korean immigrants to Korea.METHODS: Individual, in-depth interviews were conducted from July to September 2017, with 18 women who emigrated of Korean ethnicity from Central Asia to Korea, and took care of their baby for at least a year after their first delivery in Korea. The interviews were audio-recorded and transcribed verbatim. Data from the transcriptions were analyzed through Strauss and Corbin's grounded theory method, and data analysis was conducted simultaneously with data collection.RESULTS: As a result of categorizing the interview data through the process of open coding, 10 categories, with 31 subcategories and 102 concepts were drawn, and “growth as a Central Asian-Korean mother in an unfamiliar, historical hometown” was found to be the core category of the process of adaptation to motherhood in Central Asian-Korean immigrants to Korea.CONCLUSION: A characteristic of the process of adaptation to motherhood in Central Asian-Korean immigrants to Korea, drawn from this study, is that it differs according to the level of initiative to carry out interaction strategies, and the use of various supportive social resources. The findings indicate the need for Medicare eligibility adjustment for antenatal care, the extension of the visa renewal period during childbirth, the development of web- or mobile application-based educational programs in Russian language, and the establishment of integrated visiting healthcare services, community service resources, and policy support to enable these women to utilize various supportive social resources.
Adaptation, Psychological ; Asia ; Clinical Coding ; Data Collection ; Delivery of Health Care ; Emigrants and Immigrants ; Female ; Grounded Theory ; Humans ; Korea ; Medicare ; Methods ; Mothers ; Parturition ; Qualitative Research ; Social Welfare ; Statistics as Topic

Cleidocranial dysplasia (CCD) is an autosomal-dominant disease characterized by the delayed closure of cranial sutures, defects in clavicle formation, supernumerary teeth, and delayed tooth eruption. Defects in the Runt-related transcription factor 2 (RUNX2), a master regulator of bone formation, have been identified in CCD patients. The aim of this study was to identify the molecular genetic causes in a CCD family with delayed tooth eruption.The 23-year-old female proband and her mother underwent clinical and radiographic examinations, and all coding exons of the RUNX2 were sequenced. Mutational analysis revealed a single nucleotide deletion mutation (NM_001024630.4 : c.357delC) in exon 3 in the proband and her mother. The single C deletion would result in a frameshift in translation and introduce a premature stop codon [p.(Asn120Thrfs*24)]. This would result in the impaired function of RUNX2 protein, which may be the cause of delayed eruption of permanent teeth in the family.
Clavicle ; Cleidocranial Dysplasia ; Clinical Coding ; Codon, Nonsense ; Core Binding Factor Alpha 1 Subunit ; Cranial Sutures ; Exons ; Female ; Humans ; Molecular Biology ; Mothers ; Osteogenesis ; Sequence Deletion ; Tooth ; Tooth Eruption ; Tooth, Supernumerary ; Transcription Factors ; Young Adult

The 4a and 4b proteins of the Middle East respiratory syndrome coronavirus (MERS-CoV) have been described for their antagonism on host innate immunity. However, unlike clustering patterns of the complete gene sequences of human and camel MERS-CoVs, the 4a and 4b protein coding regions did not constitute species-specific phylogenetic groups. Moreover, given the estimated evolutionary rates of the complete, 4a, and 4b gene sequences, the 4a and 4b proteins might be less affected by species-specific innate immune pressures. These results suggest that the 4a and 4b proteins of MERS-CoV may function against host innate immunity in a manner independent of host species and/or evolutionary clustering patterns.
Camels ; Clinical Coding ; Coronavirus Infections ; Evolution, Molecular ; Humans ; Immunity, Innate ; Middle East Respiratory Syndrome Coronavirus ; Middle East ; Open Reading Frames ; Phylogeny ; Zoonoses