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Veterinary Sciences Feb 2022Infection of pig farms with porcine reproductive and respiratory syndrome virus (PRRSV) and porcine circovirus type 2 (PCV2) causes substantial economic losses globally....
First Study to Describe the Prevalence of Porcine Reproductive and Respiratory Syndrome Virus and Porcine Circovirus Type 2 among the Farmed Pig Population in the Hong Kong Special Administrative Region.
Infection of pig farms with porcine reproductive and respiratory syndrome virus (PRRSV) and porcine circovirus type 2 (PCV2) causes substantial economic losses globally. However, little epidemiological data of PRRSV and PCV2 in the Hong Kong Special Administrative Region (HKSAR) were available. This pilot study aimed to provide baseline information of the prevalences of PPRSV and PCV2 in the HKSAR. A complex survey was conducted from 3 February 2020 to 11 March 2021 on 29 of the 40 pig farms in the HKSAR, with five pigs each from seven age groups (representing key production stages) tested using a real-time PCR. Evidence of presence of PRRSV European strain (PRRSV-1), PRRSV North American strain (PRRSV-2) and PCV2 was confirmed on 48%, 86% and 79% of farms, with overall prevalences of 7.6% (95% CI: 4.8-10.3%), 12.2% (95% CI: 9.6-14.7%) and 20.3% (95% CI: 14.3-26.2%) in the HKSAR pig population based on pooling results from all pigs across all farms. PRRSV-1 and PRRSV-2 were more prevalent in younger pigs, with the highest prevalences of 32.1% (95% CI: 20.8-45.0%) and 51.5% (95% CI: 38.9-64.0%) for 8-week-old pigs. In contrast, the distribution of PCV2 prevalence across age groups appeared to be more symmetrical, with higher prevalences reported in pigs from 12 weeks old to 24 weeks old but lower prevalences in younger pigs and sows. The results of this study demonstrate that PRRSV-1, PRRSV-2 and PCV2 are widely spread across pig farms in the HKSAR, which indicates that the current farm management and control protocols should be improved. We recommend the implementation of on-farm intervention strategies combined with ongoing surveillance to reduce these viruses, and their consequences, in the HKSAR pig population.
PubMed: 35202333
DOI: 10.3390/vetsci9020080 -
American Journal of Medical Genetics.... Dec 2016Craniosynostosis is a relatively common birth defect characterized by the premature fusion of one or more cranial sutures. Examples of craniosynostosis syndromes include...
Craniosynostosis is a relatively common birth defect characterized by the premature fusion of one or more cranial sutures. Examples of craniosynostosis syndromes include Crouzon (CS), Pfeiffer (PS), and Apert (AS) syndrome, with clinical characteristics such as midface hypoplasia, hypertelorism, and in some cases, limb defects. Mutations in Fibroblast Growth Factor Receptor-2 comprise the majority of known mutations in syndromic forms of craniosynostosis. A number of clinical reports of FGFR-associated craniosynostosis patients and mouse mutants have been linked to gastrointestinal tract (GIT) disorders, leading to the hypothesis of a direct link between FGFR-associated craniosynostosis syndromes and GIT malformations. We conducted an investigation to determine GIT symptoms in a sample of FGFR-associated craniosynostosis syndrome patients and a mouse model of CS containing a mutation (W290R) in Fgfr2. We found that, compared to the general population, the incidence of intestinal/bowel malrotation (IM) was present at a higher level in our sample population of patients with FGFR-associated craniosynostosis syndromes. We also showed that the mouse model of CS had an increased incidence of cecal displacement, suggestive of IM. These findings suggest a direct relationship between FGFR-related craniosynostosis syndromes and GIT malformations. Our study may shed further light on the potential widespread impact FGFR mutations on different developmental systems. Based on reports of GIT malformations in children with craniosynostosis syndromes and substantiation with our animal model, GIT malformations should be considered in any child with an FGFR2-associated craniosynostosis syndrome. © 2016 Wiley Periodicals, Inc.
Topics: Alleles; Amino Acid Substitution; Animals; Biopsy; Craniosynostoses; DNA Mutational Analysis; Female; Gastrointestinal Tract; Genetic Association Studies; Heterozygote; Humans; Male; Mice; Mice, Knockout; Mutation; Phenotype; Receptors, Fibroblast Growth Factor; Retrospective Studies; Syndrome
PubMed: 27481450
DOI: 10.1002/ajmg.a.37862 -
Pediatric Neurology Jun 2023Kearns-Sayre syndrome (KSS) is caused by duplications and/or deletions of mitochondrial DNA (mtDNA) and is typically diagnosed based on a classic triad of symptoms with...
BACKGROUND
Kearns-Sayre syndrome (KSS) is caused by duplications and/or deletions of mitochondrial DNA (mtDNA) and is typically diagnosed based on a classic triad of symptoms with chronic progressive external ophthalmoplegia (CPEO), retinitis pigmentosa, and onset before age 20 years. The present study aimed to diagnose two patients, on suspicion of KSS.
METHODS
One of the patients went through a diagnostic odyssey, with normal results from several mtDNA analyses, both in blood and muscle, before the diagnosis was confirmed genetically.
RESULTS
Two patients presented increased tau protein and low 5-methyltetrahydrofolate (5-MTHF) levels in the cerebrospinal fluid (CSF). Untargeted metabolomics on CSF samples also showed an increase in the levels of free sialic acid and sphingomyelin C16:0 (d18:1/C16:0), compared with four control groups (patients with mitochondrial disorders, nonmitochondrial disorders, low 5-MTHF, or increased tau proteins).
CONCLUSIONS
It is the first time that elevated sphingomyelin C16:0 (d18:1/C16:0) and tau protein in KSS are reported. Using an untargeted metabolomics approach and standard laboratory methods, the study could shed new light on metabolism in KSS to better understand its complexity. In addition, the findings may suggest the combination of elevated free sialic acid, sphingomyelin C16:0 (d18:1/C16:0), and tau protein as well as low 5-MTHF as new biomarkers in the diagnostics of KSS.
Topics: Humans; Young Adult; Adult; Kearns-Sayre Syndrome; tau Proteins; N-Acetylneuraminic Acid; Sphingomyelins; DNA, Mitochondrial
PubMed: 37018879
DOI: 10.1016/j.pediatrneurol.2023.02.016 -
Vaccine Jun 2023The emergence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) variants has significantly reduced the efficacy of some approved vaccines. A fourth dose of... (Randomized Controlled Trial)
Randomized Controlled Trial
The emergence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) variants has significantly reduced the efficacy of some approved vaccines. A fourth dose of NVX-CoV2373 (5 µg SARS-CoV-2 recombinant spike [rS] protein + 50 µg Matrix-M™ adjuvant; Novavax, Gaithersburg, MD) was evaluated to determine induction of cross-reactive antibodies to variants of concern. A phase II randomized study (NCT04368988) recruited participants in Australia and the United States to assess a primary series of NVX-CoV2373 followed by two booster doses (third and fourth doses at 6-month intervals) in adults 18-84 years of age. The primary series was administered when the SARS-CoV-2 ancestral strain was prevalent and the third and fourth doses while the Alpha and Delta variants were prevalent in AUS and US. Local/systemic reactogenicity was assessed the day of vaccination and for 6 days thereafter. Unsolicited adverse events (AEs) were reported. Immunogenicity was measured before, and 14 days after, fourth dose administration, using anti-spike serum immunoglobulin G (IgG) and neutralization assays against ancestral SARS-CoV-2 strain and Omicron sublineages. Among 1283 enrolled participants, 258 were randomized to receive the two-dose primary series, of whom 104 received a third dose, and 45 received a fourth dose of NVX-CoV2373. The incidence of local/systemic reactogenicity events increased after the first three doses of NVX-CoV2373 and leveled off after dose 4. Unsolicited AEs were reported in 9 % of participants after dose 4 (none of which were severe or serious). Anti-rS IgG levels and neutralization antibody titers increased following booster doses to a level approximately four-fold higher than that observed after the primary series, with a progressively narrowed gap in response between the ancestral strain and Omicron BA.5. A fourth dose of NVX-CoV2373 enhanced immunogenicity for ancestral and variant SARS-CoV-2 strains without increasing reactogenicity, indicating that updates to the vaccine composition may not be currently warranted.
Topics: Adult; Humans; COVID-19; SARS-CoV-2; Immunoglobulin G; Immunogenicity, Vaccine; Antibodies, Viral; Antibodies, Neutralizing
PubMed: 37271706
DOI: 10.1016/j.vaccine.2023.05.051 -
The Pan African Medical Journal 2013
Review
Topics: Acrocephalosyndactylia; Adult; Child; Female; Genes, Dominant; Humans; Male; Middle Aged; Pregnancy
PubMed: 23565313
DOI: 10.11604/pamj.2013.14.66.2178 -
Genes Oct 2021Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder (about 200 cases reported), characterized by macrocephaly, hypertelorism, and polysyndactyly. Most... (Review)
Review
Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder (about 200 cases reported), characterized by macrocephaly, hypertelorism, and polysyndactyly. Most of the reported GCPS cases are the results of heterozygous loss of function mutations affecting the gene (OMIM# 175700), while a small proportion of cases arise from large deletions on chromosome 7p14 encompassing the gene. To our knowledge, only 6 patients have been reported to have a deletion with an exact size (given by genomic coordinates) and a gene content larger than 1 Mb involving the gene. This report presents a patient with Greig cephalopolysyndactyly contiguous gene syndrome (GCP-CGS) diagnosed with a large, 18 Mb deletion on chromosome 7p14.2-p11.2. Similar cases are reviewed in the literature for a more accurate comparison between genotype and phenotype.
Topics: Acrocephalosyndactylia; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 7; Comparative Genomic Hybridization; Humans; Karyotype; Male; Nerve Tissue Proteins; Zinc Finger Protein Gli3
PubMed: 34828280
DOI: 10.3390/genes12111674 -
Plastic and Reconstructive Surgery.... Oct 2020Episodes of intracranial hypertension are associated with reductions in cerebral cortical thickness (CT) in syndromic craniosynostosis. Here we focus on Crouzon-Pfeiffer...
BACKGROUND
Episodes of intracranial hypertension are associated with reductions in cerebral cortical thickness (CT) in syndromic craniosynostosis. Here we focus on Crouzon-Pfeiffer syndrome patients to measure CT and evaluate associations with type of primary cranial vault expansion and synostosis pattern.
METHODS
Records from 34 Crouzon-Pfeiffer patients were reviewed along with MRI data on CT and intracranial volume to examine associations. Patients were grouped according to initial cranial vault expansion (frontal/occipital). Data were analyzed by multiple linear regression controlled for age and brain volume to determine an association between global/lobar CT and vault expansion type. Synostosis pattern effect sizes on global/lobar CT were calculated as secondary outcomes.
RESULTS
Occipital expansion patients demonstrated 0.02 mm thicker cortex globally ( = 0.81) with regional findings, including: thicker cortex in frontal (0.02 mm, = 0.77), parietal (0.06 mm, = 0.44) and occipital (0.04 mm, = 0.54) regions; and thinner cortex in temporal (-0.03 mm, = 0.69), cingulate (-0.04 mm, = 0.785), and, insula (-0.09 mm, = 0.51) regions. Greatest effect sizes were observed between left lambdoid synostosis and the right cingulate (d = -1.00) and right lambdoid synostosis and the left cingulate ( = -1.23). Left and right coronal synostosis yielded effect sizes of = -0.56 and = -0.42 on respective frontal lobes.
CONCLUSIONS
Both frontal and occipital primary cranial vault expansions correlate to similar regional CT in Crouzon-Pfeiffer patients. Lambdoid synostosis appears to be associated with cortical thinning, particularly in the cingulate gyri.
PubMed: 33173703
DOI: 10.1097/GOX.0000000000003204 -
Scientific Reports Apr 2022This meta-analysis aims to compare Apert syndrome (AS) patients with non-AS populations (not clinically or genetically diagnosed) on craniofacial cephalometric... (Meta-Analysis)
Meta-Analysis
This meta-analysis aims to compare Apert syndrome (AS) patients with non-AS populations (not clinically or genetically diagnosed) on craniofacial cephalometric characteristics (CCC) to combine publicly available scientific information while also improving the validity of primary study findings. A comprehensive search was performed in the following databases: PubMed, Google Scholar, Scopus, Medline, and Web of Science, an article published between 1st January 2000 to October 17th, 2021. PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines were followed to carry out this systematic review. We used the PECO system to classify people with AS based on whether or not they had distinctive CCC compared to the non-AS population. Following are some examples of how PECO has been used: People with AS are labeled P; clinical or genetic diagnosis of AS is labeled E; individuals without AS are labeled C; CCC of AS are labeled O. Using the Newcastle-Ottawa Quality-Assessment-Scale, independent reviewers assessed the articles' methodological quality and extracted data. 13 studies were included in the systematic review. 8 out of 13 studies were score 7-8 in NOS scale, which indicated that most of the studies were medium to high qualities. Six case-control studies were analyzed for meta-analysis. Due to the wide range of variability in CCC, we were only able to include data from at least three previous studies. There was a statistically significant difference in N-S-PP (I: 76.56%; P = 0.014; CI 1.27 to - 0.28) and Greater wing angle (I: 79.07%; P = 0.008; CI 3.07-1.17) between AS and control subjects. Cleft palate, anterior open bite, crowding in the upper jaw, and hypodontia occurred more frequently among AS patients. Significant shortening of the mandibular width, height and length is the most reported feature in AS patients. CT scans can help patients with AS decide whether to pursue orthodontic treatment alone or to have their mouth surgically expanded. The role of well-informed orthodontic and maxillofacial practitioners is critical in preventing and rehabilitating oral health issues.
Topics: Acrocephalosyndactylia; Cephalometry; Cleft Palate; Humans; Research Report
PubMed: 35383244
DOI: 10.1038/s41598-022-09764-y -
Journal of Korean Medical Science Apr 2006Pfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population and has not been previously reported in... (Review)
Review
Pfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population and has not been previously reported in Korea. The authors report with a review of literature the case of a newborn baby with Pfeiffer syndrome, manifested by bicoronal craniosynostosis, broad thumbs, and big toes. The infant also had bilateral syndactyly of the fingers and toes, mild proptosis, choanal hypoplasia and maxillary hypoplasia.
Topics: Acrocephalosyndactylia; Female; Humans; Infant, Newborn; Korea; Radiography
PubMed: 16614535
DOI: 10.3346/jkms.2006.21.2.374 -
Deutsches Arzteblatt International Nov 2013As a result of the increased public interest in autism spectrum disorders (ASD), certain core manifestations of ASD--impaired social interaction and communication,... (Review)
Review
BACKGROUND
As a result of the increased public interest in autism spectrum disorders (ASD), certain core manifestations of ASD--impaired social interaction and communication, bizarre interests--are now commonly recognized as being typical of autism, not only in children, but in adults as well. More often than before, general practitioners, neurologists, and psychiatrists find themselves being asked whether a patient is suffering from previously unrecognized Asperger syndrome (AS). The prevalence of ASD is estimated at 1%, and the ratio of diagnosed to undiagnosed cases at about 3:2. Little is known about the diagnostic evaluation of AS in adulthood.
METHOD
We selectively searched the Medline database for pertinent literature, paying special attention to diagnostic manuals and to the guideline of the United Kingdom's National Institute for Health and Care Excellence (NICE).
RESULTS
Centrally important aspects of the diagnosis of AS include an assessment of the patient's ability to assume the emotional perspectives of others, non-verbal modes of expression, repetitive behavior patterns, and childhood social behavioral history. The autism quotient (AQ) is now established as a simple but nonspecific screening test. Up to 70% of all affected adults have comorbid disturbances, most often depression and anxiety disorders. The differential diagnosis includes personality disorders, anxiety disorders, obsessive-compulsive disorder, and attention deficit-hyperactivity disorder. The diagnostic assessment should proceed in stepwise fashion, starting from simple screening in primary care and then moving on to evaluation of the suspected diagnosis by a mental health care specialist, followed by extensive further investigation in an outpatient clinic specifically devoted to patients with autism spectrum disorders.
CONCLUSION
The diagnostic assessment of autism in adults requires knowledge of the core and accompanying manifestations of autism and of their differential diagnoses. More research is needed for the development of further screening tests and the precise determination of diagnosis rates, differential diagnoses, nd comorbidities.
Topics: Asperger Syndrome; Diagnosis, Differential; Humans; Medical History Taking; Neuropsychological Tests; Psychometrics
PubMed: 24290364
DOI: 10.3238/arztebl.2013.0755