Guidance for identification and treatment of individuals with attention deficit/hyperactivity disorder and autism spectrum disorder based upon expert consensus.

Background: Individuals with co-occurring hyperactivity disorder/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) can have complex presentations that may complicate diagnosis and treatment. There are established guidelines with regard to the identification and treatment of ADHD and ASD as independent conditions. However, ADHD and ASD were not formally recognised diagnostically as co-occurring conditions until the Diagnostic and Statistical Manual of Mental Disorders 5 (DSM-5) was published in 2013.

Development and implementation of large-scale quality control for the European bank for induced Pluripotent Stem Cells.

The European Bank for induced Pluripotent Stem Cells (EBiSC) has collected iPSC lines associated with genetic diseases and healthy controls from across Europe and made these available for research use to international academic and commercial users. Ensuring availability of consistently high quality iPSCs at scale and from various sources requires quality systems which are flexible yet robust, maximising the utilisation of available resources. Here, we outline the establishment and implementation of a quality control regime suitable for a large-scale operational setting.

Generation of a set of isogenic, gene-edited iPSC lines homozygous for all main APOE variants and an APOE knock-out line.

Alzheimer's disease (AD) is the most frequent neurodegenerative disease amongst the elderly. The SNPs rs429358 and rs7412 in the APOE gene are the most common risk factor for sporadic AD, and there are three different alleles commonly referred to as APOE-ε2, APOE-ε3 and APOE-ε4. Induced pluripotent stem cells (iPSCs) hold great promise to model AD as such cells can be differentiated in vitro to the required cell type.

Transfusion associated graft versus host disease in an immunocompetent patient.

Transfusion associated graft versus host disease is a rare disorder usually confined to patients who are immunosuppressed. A case is described in a 77 year old woman who was presumed immunocompetent. She was transfused with one unit of blood from an individual who was homozygous for the same HLA haplotype as her.

HLA-DP and coeliac disease: family and population studies.

We investigated polymorphism of HLA-DP genes in three DR3 related diseases, confirming an association of coeliac disease with a Bgl II DP alpha polymorphism (a restriction fragment sized 3.5 kb present in 75% of patients compared to 34% of control subjects, p less than 0.001), and finding a weaker association with dermatitis herpetiformis (57% v 34%, p = 0.

HLA linkage with familial vesicoureteral reflux and familial pelvi-ureteric junction obstruction.

The inheritance of HLA haplotypes has been looked at in a family with pelvi-ureteric junction obstruction (PUJO) and two families with vesicoureteric reflux (VUR). The data have been combined with those of other reported families and lod scores calculated for both these urinary tract anomalies. There seems no doubt that VUR is linked to HLA whilst the case for PUJO is equivocal.

HLA and C4 polymorphism in diabetic microangiopathy.

We have reported an increased frequency of the rare B3 allotype of the fourth component of complement (C4B3) in insulin-dependent diabetics, especially in those with microangiopathy. This study has now been expanded--20 of 106 subjects with microangiopathy and 9 of 116 without possessed the C4B3 allotype (p less than 0.02).

X-linked mesangiocapillary glomerulonephritis.

Two related male patients with mesangiocapillary glomerulonephritis (MCGN) are described demonstrated by renal biopsy, inherited as an X-linked disorder. Family investigations failed to reveal any underlying immunological defects or a marker for the female carrier state. The age at diagnosis, the result of discovery of proteinuria on routine urine testing during infancy, is earlier than in any other reported cases of MCGN.

Human lymphocyte antigens in hypertrophic cardiomyopathy.

An increasing number of genetic studies in hypertrophic cardiomyopathy challenge conventional views on inheritance and suggest genetic heterogeneity or non-genetic disease. We have found changes in relative risk for some antigens with significantly increased frequency of HLA antigen DR4 in this condition. These findings are consistent with there being a genetic component in susceptibility to hypertrophic cardiomyopathy.

Gc subtypes in Northern Indians.

Isoelectric focusing was used to determine the frequencies of the Gc subtypes in a population sample from The North Indian subcontinent (now living in Birmingham, UK). The gene frequencies observed were as follows: Gc1F = 0.191, Gc1S = 0.

HLA frequency and prognosis in lung cancer.

In 100 patients with lung cancer we have found no significant abnormality in overall HLA antigen frequency when compared to a control sample of 151 random health individuals from the same region, though there was a high relative risk of being HLA-BW22-positive and having lung cancer. There was an increased frequency of HLA-B5 in small-(oat-)cell anaplastic carcinomas (P less than 0.05); HLA-B15 in anaplastic tumours (P less than 0.

Automation of laboratory data for hospital patients.

Computer schemes for a large automated serology service and for tissue typing and organ transplantation which are in operation in Birmingham, England, are described. Each scheme is self-contained and compact, and has been in successful operation for several years.

Another example of haemopoietic chimaerism in dizygotic twins.

Another example of haemopoietic chimaerism in dizygotic twins is described. Each twin had two distinct blood cell populations. The red cell populations differed in three blood group systems and in other genetic characters, and the white cell population in HLA types and in XX/XY karyotypes.

Cytogenetic evidence for the localisation of the gene for congenital adrenal hyperplasia.

In the course of a study of the close linkage between the gene locus for the autosomal recessive disease, Congenital Adrenal Hyperplasia (CAH), and the major histocompatibility complex (MHC), a cytogenetic survey was undertaken. In one family, where a crossover might have occurred between some loci in the MHC complex and the locus for the 21-hydroxylase gene, there was also a crossover between the MHC locus and the centromere of chromosome 6.

Recurrent bacterial meningitis in patients with genetic defects of terminal complement components.

Isolated genetic deficiencies of complement components in man are rare. We describe two kindreds with inborn deficiencies of either C5 or C6 in which both propositi presented with recurrent bacterial meningitis. Neisseria meningitidis was isolated from the cerebrospinal fluid of the C5-deficient patient and bactericidal activity against his autologous meningococcus was absent from whole fresh patients' serum despite a rising titre of complement-fixing antibody.

The straight back syndrome.

The straight back syndrome, consisting of loss of normal upper thoracic spinal curvature associated with cardiac murmurs and radiographic cardiomegaly is considered a form of 'pseudoheart disease' which has been attributed to squashing of the heart in the reduced AP diameter of the chest. During an 18-month period 31 patients referred to a cardiologist were found to have a straight back. Forty-five relatives were subsequently examined and 27 were found also to have a straight back.

Suppression of mixed lymphocyte reactions by pregnancy serum.

Maternal lymphocyte function, as assessed by stimulation with cells from a human lymphoid line, is normal in pregnancy. Maternal serum, however, contains immunosuppressive factor(s), demonstrable by 29 weeks of pregnancy, and having a greater effect at 36 weeks on mixed lymphocyte reactions. These immunosuppressive factor(s) block all mixed lymphocyte reactions to the same extent and are not specific towards those stimulated by paternal antigens.