The Chlamydia trachomatis PmpD adhesin forms higher order structures through disulphide-mediated covalent interactions.

Chlamydia trachomatis (Ct) is the most common sexually transmitted bacterial pathogen, and the leading cause of infectious blindness worldwide. We have recently shown that immunization with the highly conserved antigenic passenger domain of recombinant Ct polymorphic membrane protein D (rPmpD) is protective in the mouse model of Ct genital tract infection, and previously, that ocular anti-rPmpD antibodies are elicited following vaccination. However, the mechanisms governing the assembly and structure-function relationship of PmpD are unknown.

Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.

We report 26 individuals from ten unrelated families who exhibit variable expression and/or incomplete penetrance of epilepsy, learning difficulties, intellectual disabilities, and/or neurobehavioral abnormalities as a result of a heterozygous microdeletion distally adjacent to the Williams-Beuren syndrome region on chromosome 7q11.23. In six families with a common recurrent ∼1.

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into the brain. From 2004-2008, 132 requests for mutational analysis of the SLC2A1 gene were studied by automated Sanger sequencing and multiplex ligation-dependent probe amplification. Mutations in the SLC2A1 gene were detected in 54 patients (41%) and subsequently in three clinically affected family members.

What characteristics do service users with intellectual disability value in direct support staff within residential forensic services?

Background: This study explores the perceptions of a group of adults with intellectual disability regarding direct support staff.

Method: Semi-structured interviews relating to experiences of direct support staff were developed from two focus groups. These interviews were conducted with 11 adults with intellectual disability residing within a forensic inpatient service.

Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss.

Interstitial deletions of 6q are rare. We report a detailed clinical and molecular characterization of four patients with interstitial deletion involving 6q25. All of our patients presented with microcephaly, developmental delay, dysmorphic features and hearing loss, whereas two of them had agenesis of the corpus callosum.

Barium induced modulation of NIR emission in a neodymium cryptate complex.

The complex [NdL](III) is based upon a crown ether-appended ditopic cryptate ligand and demonstrates a near-infrared fluorescence response to Ba(II).

Increased responsiveness of rat colonic splanchnic afferents to 5-HT after inflammation and recovery.

5-Hydroxytryptamine (5-HT) activates colonic splanchnic afferents, a mechanism by which it has been implicated in generating symptoms in postinfectious and postinflammatory states in humans. Here we compared mechanisms of colonic afferent activation by 5-HT and mechanical stimuli in normal and inflamed rat colon, and after recovery from inflammation. Colonic inflammation was induced in rats by dextran sulphate sodium.

Household chaos--links with parenting and child behaviour.

Background: The study aimed to confirm previous findings showing links between household chaos and parenting in addition to examining whether household chaos was predictive of children's behaviour over and above parenting. In addition, we investigated whether household chaos acts as a moderator between parenting and children's behaviour.

Method: The sample consisted of 118 working- and middle-class two-parent English families with two children aged 4-8.

Sibling relationships in early/middle childhood: links with individual adjustment.

The overarching goal of the study was to identify links between sibling relationship quality in early/middle childhood with children's adjustment, having accounted for the effects of parent-child relationship quality. The sample consisted of 101 working and middle-class 2-parent English families with 2 children ages 4-8 years. Parents provided reports of sibling relationship quality, the parent-child relationship, and the children's prosocial and problematic behaviors.

The reliability and validity of general psychotic rating scales with people with mild and moderate intellectual disabilities: an empirical investigation.

Background: Whilst assessment tools have been developed to diagnose schizophrenia in people with mild intellectual disabilities (IDs), little attention has been paid to developing reliable and valid dimensional measures of psychotic experiences with this population. This study investigates the reliability and validity of two such measures developed for the general adult psychiatric population, the Positive and Negative Syndrome Scale (PANSS) and the Psychotic Symptom Rating Scales (PSYRATS), with a population of adults with mild IDs.

Method: Sixty-two adults with mild IDs were interviewed using the PANSS and PSYRATS, and independently interviewed using the Psychiatric Assessment Schedule--Adults with Developmental Disability (PAS-ADD) to obtain psychiatric diagnoses to the criteria of the International Classification of Diseases--Tenth Revision (ICD-10).

Metabotropic glutamate receptors inhibit mechanosensitivity in vagal sensory neurons.

Background And Aims: Inhibitory G-protein-coupled receptors have demonstrated potential in treatment of gastroesophageal reflux disease (GERD) through actions on vagal afferent signaling. Metabotropic glutamate receptors (mGluR) belong to this receptor family and have great pharmacologic and molecular diversity, with 8 subtypes. We investigated mGluR in the vagal system of humans and other species.

Excitation of rat colonic afferent fibres by 5-HT(3) receptors.

The gastrointestinal tract contains most of the body's 5-hydroxytryptamine (5-HT) and releases large amounts after meals or exposure to toxins. Increased 5-HT release occurs in patients with irritable bowel syndrome (IBS) and their peak plasma 5-HT levels correlate with pain episodes. 5-HT(3) receptor antagonists reduce symptoms of IBS clinically, but their site of action is unclear and the potential for other therapeutic targets is unexplored.

Phenylketonuria in adulthood: a collaborative study.

During 1967-1983, the Maternal and Child Health Division of the Public Health Services funded a collaborative study of 211 newborn infants identified on newborn screening as having phenylketonuria (PKU). Subsequently, financial support was provided by the National Institute of Child Health and Human Development (NICHD). The infants were treated with a phenylalanine (Phe)-restricted diet to age 6 years and then randomized either to continue the diet or to discontinue dietary treatment altogether.

Quantitative amino acid analysis using a Beckman system gold HPLC 126AA analyzer.

Background: The Beckman 6300/7300 analyzer, which was widely used for amino acid (AA) analysis, is no longer commercially available.

Methods: To set up an affordable AA analysis program, a Beckman system gold HPLC 126AA analyzer and Pickering Laboratories reagents were used. Two quantitative AA analysis programs were developed.

Malonyl CoA decarboxylase deficiency: C to T transition in intron 2 of the MCD gene.

Malonyl CoA decarboxylase (MCD) is an enzyme involved in the metabolism of fatty acids synthesis. Based on reports of MCD deficiency, this enzyme is particular important in muscle and brain metabolism. Mutations in the MCD gene result in a deficiency of MCD activity, that lead to psychomotor retardation, cardiomyopathy and neonatal death.

Familial deletion of chromosome 18 (p11.2).

Familial transmission of del (18p) syndrome from a mother to her daughter is rare and has been reported only once before. We report a female patient referred to us at age 18 years because of mental retardation associated with short stature. Similar clinical features are also seen in her mother.

Partial trisomy 13q identified by sequential fluorescence in situ hybridization.

We report on a 19-month-old boy with partial trisomy 13q resulting from a probable balanced translocation involving chromosomes 1 and 13. The infant presented with omphalocele, malrotation, microcephaly with overriding skull bones, micrognathia, apparently low-set ears, rocker-bottom feet, and congenital heart disease, findings suggestive of trisomy 13. Karyotypic studies from peripheral blood lymphocytes documented an unbalanced karyotype 46,XY,-1,+der(1).

Reversal of neuromuscular blockade in humans by neostigmine and edrophonium: a mathematical model.

Generalizations of the integrated model describing the interaction of nondepolarizing neuromuscular blocking drugs with reversible anticholinesterase drugs described in Unadkat et al. (1) are reported. The models can deal with possible incomplete reversal (irreversible block) and/or noninstantaneous anticholinesterase kinetics.

Intellectual development in 12-year-old children treated for phenylketonuria.

Intelligence and achievement test scores were evaluated for 95 12-year-old children with phenylketonuria who had begun dietary therapy during the neonatal period. Dietary control of blood phenylalanine below 900 mumol/L was maintained beyond age 10 years in 23 children; 72 others had blood phenylalanine persistently above that level at ages ranging from 18 months to 10 years. Test scores at age 12 years were negatively correlated with the age at initiation of diet and with blood phenylalanine levels from ages 4 to 10 years, and positively correlated with parent IQ scores and the age at loss of dietary control.

A comparison of male admissions to a special hospital 1970-71 and 1987-88.

Characteristics of 109 male patients admitted over a two-year period to a Special Hospital are described and discussed. Comparison is made with the results from a previous study conducted in another Special Hospital (Broadmoor) some fifteen years ago. Admissions still originate mainly from the courts, the penal system, and the NHS.

Violent incidents on special care wards in a special hospital.

Records of 116 violent incidents perpetrated by special care patients over a twelve-month period were retrospectively examined. There was a marked seasonal variation in the number of incidents. Incidents took place predominantly in the seclusion rooms and in communal areas having relatively high patient density.

New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome.

Eight patients (4 males, 4 females) were affected with a previously undefined multiple congenital anomalies/mental retardation syndrome which was designated the Cardio-Facio-Cutaneous (CFC) syndrome and which includes congenital heart defects, characteristic facial appearance, ectodermal abnormalities, and growth failure. Cardiac defects were variable, the most common being pulmonic stenosis and atrial septal defect. Typical facial characteristics were high forehead with bitemporal constriction, hypoplasia of supraorbital ridges, antimongoloid slant of palpebral fissures, depressed bridge of nose, and posteriorly angulated ears with prominent helices.

Newborn hypothyroid screening. The private sector.

Newborn hypothyroid screening in four private hospitals was prospectively evaluated and compared with a state screening program. During 1982 the hospitals screened a total of 10,786 infants compared with 47,525 by the state. Eight cases of primary hypothyroidism were confirmed by the state, for an incidence of one in 5,941.