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Relationships of HL-A antigens to human species-specific antigens.
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Screening procedures employing semiautomated and fully automated technics.
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Celiac disease associated with autoimmune myocarditis.
BACKGROUND: Both celiac disease (CD) and myocarditis can be associated with systemic autoimmune disorders; however, the coexistence of the 2 entities has never been investigated, although its identification may have a clinical impact. METHODS AND RESULTS: We screened the serum of 187 consecutive patients with myocarditis (118 males and 69 females, mean age 41.7+/-14.3 years) for the presence of cardiac autoantibodies, anti-tissue transglutaminase (IgA-tTG), and anti-endomysial antibodies (AEAs). IgA-tTG-positive and AEA-positive patients underwent duodenal endoscopy and biopsy and HLA analysis. Thirteen of the 187 patients were positive for IgA-tTG, and 9 (4.4%) of them were positive for AEA. These 9 patients had iron-deficient anemia and exhibited duodenal endoscopic and histological evidence of CD. CD was observed in 1 (0.3%) of 306 normal controls (P<0.003). In CD patients, myocarditis was associated with heart failure in 5 patients and with ventricular arrhythmias (Lown class III-IVa) in 4 patients. From histological examination, a lymphocytic infiltrate was determined to be present in 8 patients, and giant cell myocarditis was found in 1 patient; circulating cardiac autoantibodies were positive and myocardial viral genomes were negative in all patients. HLA of the patients with CD and myocarditis was DQ2-DR3 in 8 patients and DQ2-DR5(11)/DR7 in 1 patient. The 5 patients with myocarditis and heart failure received immunosuppression and a gluten-free diet, which elicited recovery of cardiac volumes and function. The 4 patients with arrhythmia, after being put on a gluten-free diet alone, showed improvement in the arrhythmia (Lown class I). CONCLUSIONS: A common autoimmune process toward antigenic components of the myocardium and small bowel can be found in >4% of the patients with myocarditis. In these patients, immunosuppression and a gluten-free diet can be effective therapeutic options.
The HL-A system and transplantation.
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Pre-implantation genetic diagnosis, tissue typing and beyond: the legal implications of the Hashmi case.
The legality of pre-implantation genetic diagnosis (PGD) has recently been confirmed by the Court of Appeal in the Hashmi case, based on a purposive construction of the statute. The court went on to declare tissue typing lawful and strained the wording of the statute in order to do so. The Hashmi case confirms that it would be lawful for the HFEA to license tissue typing in the absence of PGD. However, the HFEA only licenses tissue typing where PGD is also indicated, on the basis of a blanket application of the welfare of the child test set out in S 13 (5). This policy can be criticised. Firstly, a blanket approach to S 13 (5) is not appropriate. Secondly, the HFEA is applying the test too strictly when compared to the 'best interests' test which would govern the situation were an existing child to be a potential donor. Thirdly, by licensing tissue typing in the Hashmi case, where it was the primary reason for testing, the HFEA has undermined the argument that it can be justified only in cases where it is ancillary to PGD. These arguments, coupled with human rights arguments, based on Art 8 and Art 12, could be used to challenge the legitimacy of the HFEA's policy. The restriction on tissue typing to cases where PGD is also indicated is not ethically justified. It offers the same direct benefit to the embryo as PGD, namely selection for implantation. PGD does not cure the relevant condition so offers no additional benefit in a causative sense. Moreover, the Kantian injunction against treating people solely as means is not breached where the child will be wanted for its own sake, as well as for its potential as a cord blood donor.
A healthy live birth after mosaic blastocyst transfer in preimplantation genetic testing for GATA1-related cytopenia combined with HLA matching.
BACKGROUND: GATA1-related cytopenia (GRC) is characterized by thrombocytopaenia and/or anaemia ranging from mild to severe. Haematopoietic stem cell transplantation (HSCT) is a healing therapeutic choice for GRC patients. We identified a novel pathogenic variant (GATA1: c.1019delG) in a boy with GATA1-related cytopenia. Then we performed preimplantation genetic testing (PGT) in this GRC family. After a mosaic embryo transfered, a healthy and HLA-compatible with the proband baby was delivered. CASE PRESENTATION: The proband is a 6-year-old boy who was diagnosed to have transfusion-dependent anaemia since 3 year old. Whole-exome sequencing (WES) showed that the proband has a hemizygous variant c.1019delG in GATA1, which is inherited from his mother. His parents decided to undergo PGT to have a health and HLA-compatible offspring. After whole genome amplification (WGA) of biopsied trophectoderm (TE) cells, next generation sequencing (NGS)-based PGT was preformed to analyse embryos on chromosomal aneuploidy, target mutation and HLA typing. There were 3 embryos HLA-matched to the proband. The genotypes of the 3 embryos were heterozygous variant, hemizygous variant, normal respectively. After a heterozygous, mosaic partial trisomy (chr)16, and HLA-matched embryo transfer, a healthy baby was delivered and whose HSCT is compatible with the proband. CONCLUSIONS: NGS-based PGT-HLA is a valuable procedure for the treatment of GATA1-related cytopenia caused by GATA1 variants, or other haematological disorders, oncological and immunological diseases. Furthermore, our study reconfirms that mosaic embryos transfer would bring healthy offspring.
Hereditary alterations in the immune response: coexistence of "agammaglobulinemia", acquired hypogammaglobulinemia and selective immunoglobulin deficiency in a sibship.
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Laboratory aspects of bone marrow transplantation.
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Type I diabetes mellitus in monozygotic twins: chronic progressive beta cell dysfunction.
In a prospective 21-year study, islet cell antibodies and beta cell function were serially assessed in 24 monozygotic twins initially discordant for type I diabetes mellitus. Eighteen of 21 twins typed had HLA-DR3 or HLA-DR4 antigens. During the follow-up, 4 twins developed type I diabetes mellitus, and in 3 of these 4 twins islet cell antibodies preceded the diagnosis of clinical diabetes mellitus by greater than 8, 5 and 7 years respectively. During the "prediabetic phase," the presence of islet cell antibodies was temporally associated with a progressive decline in first phase insulin response to intravenous glucose. Elevations in fasting blood glucose and abnormalities on oral glucose tolerance tests appeared only later during the course of the disease. Of the remaining 20 twins who continue to be discordant for type I diabetes mellitus, two have had islet cell antibodies for greater than 1.5 and 1 year respectively. One of these islet cell antibody-positive non-diabetic twins was restudied; despite a fasting blood glucose level of 64 mg/dL, she had a total absence of first phase insulin response to intravenous glucose. There was no evidence of transient islet cell antibody positivity in any of the twins studied. Type I diabetes mellitus in monozygotic twins has a prolonged prediabetic phase of progressive beta cell dysfunction with associated immunologic abnormalities.
Setting time and sealing ability of alpha-tricalcium phosphate cement containing titanic oxide.
We developed a new type of calcium phosphate cement for clinical use in endodontics as a root canal sealer or pulp cupping agent. The solid phase of the sealer is composed of 70% of alpha-tricalcium phosphate (alpha-TCP) and 30% of titanic oxide (TiO2), and the liquid phase is 37% citric acid, 5% tannic acid and 58% distilled water. TiO2 was added to control setting time and handling of the cement. We used commercially available calcium phosphate root canal sealer as a control. ISO standards specify that new endodontic products should be examined thoroughly before clinical use. It is important to carry out in vitro cytotoxicity and in vivo histocompatibility tests. We first did in vitro test of setting time and root canal sealing ability of the cement. We found that this developed calcium phosphate cement had an appropriate setting time and excellent sealing ability as a root canal sealer, and concluded that it was suitable for clinical use as a root canal sealer.
'Designer' baby: a question of ethics.
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Juvenile ankylosing spondylitis with uveitis.
A 17-year-old boy had suffered from right ankle arthralgia when he was 13 years old. He also had bilaterally congested conjunctivas and were erythematous around his right ankle joint. A soft tissue echo showed swelling of the right ankle joint. A Ga 67 scan revealed a focal elevated uptake in the right ankle, but a bone scan was negative. Reactive arthritis was suspected due to conjunctivitis, arthritis and a previous episode of watery diarrhea. An ophthalmologic examination showed no evidence of uveitis. Laboratory data were negative for rheumatoid factor, antinuclear antibody and anti-ds DNA. Erythrocyte sedimentation rate (ESR) was 40 mm/hr and a histocompatibility test was positive for antigen B27. Based on the diagnosis of cellulitis and reactive arthritis, oxacillin and naproxen were given for 14 days. During follow-up at the OPD, bilateral arthralgia of the ankle joints was noted and a sonography showed bilateral edematous ankle joints. Juvenile ankylosing spondylitis (JAS) was suspected. Two years later, he had lower back pain and arthralgia of the knee joints with uveitis of the right eye. He was treated with naproxen and prednisolone. Because few JAS cases initially present as axial arthropathy or enthesopathy and uveitis is uncommon in children, we presented the case with a review of literature and conclusion that the possibility of JAS should be considered in young adolescent boys with arthritis of the lower limbs, enthesitis, a family history of related diseases and positive HLA-B27, as well as negative rheumatoid factor (RF) and anti-nuclear antibody (ANA) results.
Law and science. Family law. IVF treatment with tissue typing.
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Having one child to save another: a tale of two families.
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An interest in human dignity as the basis for genomic torts.
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Marrow transplantation from donors other than HLA identical siblings.
As marrow transplantation has become the treatment of choice for many hematologic diseases, the lack of HLA-matched family donors has become a critical issue. With the advancement of histocompatibility testing technology, it has become possible to begin defining those genetic determinants that are important to a successful transplant, and begin exploring the use of related donors who are not fully HLA matched, and unrelated donors, HLA matched or not. Given the early encouraging data, it appears likely that a substantial number of patients will benefit from the use of such alternative donors.