Assignment of the MRPS35 gene to bovine chromosome 5q3.2-->q3.4 by fluorescence in situ hybridization and confirmation by radiation hybrid mapping.
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Biomedical subjects
Publications and source records attributed to H Kuiper.
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Peripheral facial palsy (PFP) may be the only sign of Lyme borreliosis in children. A literature study prompted by three children with PFP showed that a positive test for Borrelia burgdorferi antibodies in the blood or cerebrospinal fluid in combination with pleocytosis in the cerebrospinal fluid makes a diagnosis of Lyme borreliosis extremely probable. At least half of the children with PFP as a result of Lyme borreliosis show other signs or symptoms suggesting this disease. No data are available on the prevalence of Lyme borreliosis among children with PFP in the Netherlands; in adults, however, the prevalence is very low. Therefore, assuming a similar low prevalence in children with PFP, the predictive value of serological testing in children may be limited, in which case serological screening is not useful. Moreover, treatment with antibiotics does not seem to improve the prognosis of PFP significantly. Based on these data, serological testing and lumbar puncture is justified only in children with PFP associated with other signs or symptoms of Lyme borreliosis, such as bilaterality of the PFP, signs of meningeal irritation, a recent history of erythema migrans, arthritis or a recent tick bite.
OBJECTIVE: To determine the clinical spectrum and incidence of neuroborreliosis in the Netherlands. DESIGN: Retrospective. METHOD: All neurological practices in 106 hospital locations in the Netherlands were asked to look for patients with the codes 'other neurological infections' or 'Borrelia burgdorferi' in their Diagnosis & Treatment Combinations registration or the Neurological Coding System, respectively, concerning the year 2001, then to identify the patients with neuroborreliosis and to send a copy of the correspondence with the family doctor and the laboratory data on these patients, after making them anonymous, for data extraction. Pleocytosis in the cerebrospinal fluid combined with a positive test for IgM or IgG antibodies of B. burgdorferi in the serum or cerebrospinal fluid was used as the criterion for the diagnosis neuroborreliosis. RESULTS: Forty-seven (44%) neurological practices did not respond and twenty-two (21%) either did not use any kind of diagnosis registration system or linkage between the registration and the patient file was impossible. Of the 37 (35%) neurological practices that provided information, 17 had diagnosed neuroborreliosis in 30 patients, 20 of whom met the specified criteria. Fifteen (75%) patients had a radiculopathy, 8 (40%) a peripheral facial palsy and 3 (15%) a myelopathy. CONCLUSION: The clinical spectrum of patients with neuroborreliosis was consistent with that described in Denmark. The incidence of neuroborreliosis found was 3.6 per million inhabitants. The real incidence was probably higher because the registration systems used allowed patients with neuroborreliosis to be booked under other (symptomatic) diagnostic codes, paediatricians were not involved in the study, and relatively few participating neurologists practiced in high-risk areas for tick bites and erythema migrans. The low incidence of neuroborreliosis in combination with a high background level of seropositivity in the population implies a low predictive value of positive Borrelia serology. It is therefore essential that when neuroborreliosis is suspected, the cerebrospinal fluid should always be investigated.
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TYK2 is a member of the janus protein kinase family and plays an important role in the signal transduction of various cytokines including interferon alpha/beta. Cloning and characterization of the porcine TYK2 gene revealed a conserved organization with respect to other mammalian TYK2 orthologs. The porcine gene consists of 25 exons spanning approximately 26 kb and encoding a 5.3-kb mRNA. It is located in a GC-rich and gene-rich chromosome region and contains several CpG islands. The predicted 132-kDa TYK2 protein consists of 1,184 amino acids and shows 85% identity to the human TYK2 protein. The porcine TYK2 gene was localized by FISH and RH-mapping on SSC 2q1.3-->q2.1, which is in good agreement with established human-mouse-pig comparative maps.
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Failures in the establishment of chromosomal, gonadal and phenotypic sex can cause intersexuality in dogs. Thus, diagnosis of chimaerism, mosaicism, sex reversal syndrome, and male or female pseudohermaphroditism in intersex individuals has to be based on the inspection of the chromosomes, gonads and the phenotypic appearance of the reproductive organs. In a study over two years, seven dogs of different breeds suspected to be intersexes were cytogenetically investigated. A sry-negative XX-sex reversal syndrome was diagnosed in a Jack Russel Terrier. In a mixbred dog a persistent Mullerian duct syndrome (PMDS) was found and a Border Terrier Dog showed an XX/XY chromosomal chimaerism. In further four dogs of different breeds, a female constitution of sex chromosomes was seen. As a sign of intersexuality each of these dog showed an enlarged clitoris. A differentiation between XX-sex reversal syndrome and female pseudohermaphroditism was not possible because there was no information on the internal genital tract and gonads available.
In 13 German Holstein calves from two different dairy farms arthrogryposis of the front legs, facial scoliosis and torticollis were observed. Obvious environmental reasons could not be found. Chromosomal anomalies in two affected calves were not detectable. A striking feature was the high frequency of affected calves among the offspring of one natural service sire. A plausible explanation of the congenital anomalies observed is a dominantly inherited mutation restricted to germ cells.
A premature neonate was born with a generalized eruption of vesicles, within a day developing into an erythrodermia, with bullae and widespread desquamation, due to congenital cutaneous candidiasis.