The information needs of carers of adults diagnosed with epilepsy.

AIM: The aim of the study was to explore the information needs of informal carers, and how information from health professionals can become more effective for families caring for people with epilepsy. METHODS: A combined methodology was used, comprising an interview study and a survey. Twelve in-depth interviews with carers were carried out. The questionnaire was developed using the interview data, to which 70 carers responded. RESULTS: Four main themes have been drawn from the study. Carers' of people with epilepsy have a need for improved and more appropriate levels of information giving by health professionals in both primary and secondary care. Carers' perceived self-efficacy expectations in seeking information are positive but they do not always feel listened to. Carers' prefer to receive information in a one-to-one setting but also need information from formats other than leaflets. Carers' perceive barriers to having their information needs met, such as their needs being unrecognised in relation to the person with epilepsy.     

Bupropion and nicotine patch as smoking cessation aids in alcoholics.

This is a double-blind placebo-controlled study of sustained-release bupropion as a smoking cessation aid in alcoholics undergoing treatment for their alcoholism. Participants (N=58) were enrolled within 1 week of entry into alcohol treatment from community and Veterans Affairs Substance Use Disorder programs. All participants received nicotine patch and were invited to attend a smoking cessation lecture and group. Cigarette smoking and alcohol outcomes were measured at 6 months. Bupropion when added to nicotine patch did not improve smoking outcomes. One third of participants on bupropion reported discontinuing the drug during weeks 1-4. Participants reported cigarette outcomes with nicotine patch that are similar to those seen in the general population. All study participants significantly reduced cigarette use. Comorbid affective disorder or antipersonality disorder did not affect outcomes. Alcohol outcomes were improved in those who discontinued cigarettes.     

A case of mosaic trisomy 2 diagnosed at amniocentesis in an abnormal fetus and confirmed in multiple fetal tissues

Pseudomosaicism for trisomy 2 is a relatively common finding at amniocentesis. However, genuine trisomy 2 mosaicism is extremely rare. As a result, very few cases have been described and little information is available with which to counsel the parents of an affected fetus. We describe a case of mosaic trisomy 2 diagnosed at amniocentesis in a fetus with multiple anomalies on ultrasound scan. Following termination of pregnancy, the fetus was found to have mild dysmorphic features, together with an absent gall bladder, cystic left kidney, a 13th left rib and mild unilateral talipes. The presence of trisomy 2 cells was confirmed by both standard cytogenetic analysis and fluorescent in-situ hybridisation techniques in multiple fetal tissues, as well as in the cord and placenta.     

MANAGEMENT OF VARICELLA-ZOSTER VIRUS INFECTION DURING PREGNANCY AND THE PERIPARTUM

This paper reviews the important concepts about varicella-zoster virus (VZV) infection, varicella (chickenpox), and herpes zoster (shingles, zoster) during pregnancy and the peripartum period. The majority of the U.S. population has had chickenpox during childhood, leaving only about 10% of adults over the age of 15 susceptible to the virus. However, nonimmune adults, including pregnant women, are at greater risk for complications and mortality when they contrac varicella. The virus is also teratogenic. The implication of VZV infection during pregnancy and the perinatal period are presented. Risks such as varicella pneumonia and congenital defects can be serious even though the incidence during pregnancy is low, one to five per 10,000 pregnancies. Management and treatment plans are presented. Counseling and education aimed at prevention or modification of the infection in the mother and baby is outlined.     

Saccadic trajectory in Huntington's disease.

Trajectories of saccadic eye movements can be modulated by the presence of a competing visual distractor. It is proposed that the superior colliculus (SC) controls the initial deviation through competitive lateral interactions. Given the ramifications of connections between basal ganglia (BG) thalamo-cortical circuitry and the SC, it was anticipated that this modulation would be differentially effected in those with Huntington's disease, which in its early stages is primarily a disorder of the BG. Horizontal deviation was determined for exogenously driven and endogenously driven vertical saccades in the presence of peripheral distractors. For neurologically healthy participants, the initial trajectories of both saccade types curved away from distractor locations, as predicted. However, for HD participants exogenous saccades consistently deviated leftwards, irrespective of distractor location. Endogenous saccades also revealed anomalous horizontal deviation, with significant leftward deviation evident for saccades directed upward and significant rightward deviation for saccades directed downward. Further, both groups generated a comparable proportion of erroneous responses to distractor stimuli, but only neurologically healthy participants demonstrated a response time advantage for compatible target/distractor presentation. These results suggest anomalous regulation of distractor-related activity in HD.     

Evaluating the self-esteem of myopic children over a three-year period: The COMET Experience.

PURPOSE: The purposes of this study were to evaluate self-esteem over 3 years in the 469 myopic children participating in the Correction of Myopia Evaluation Trial (COMET), and to examine its relationship with lens assignment (progressive addition lenses [PALs] vs. single-vision lenses [SVLs]), myopia progression, and several other ocular and demographic characteristics. METHODS: Data collection included refractive error measurements, child-reported visual symptoms, attitude toward glasses, adherence, and self-esteem as measured by the Self-Perception Profile for Children (SPPC). A two-way analysis of variance (treatment group x time) was performed to examine whether PAL and SVL wearers differed in self-esteem over time. Multiple regression analyses were used to evaluate associations between self-esteem at follow-up and relevant factors identified by univariate analyses. RESULTS: Regardless of lens assignment or myopia progression, COMET children reported moderate to high levels of self-esteem at follow-up in the areas of scholastic and athletic competence, physical appearance, social acceptance, behavioral conduct, and global self-worth. Mean scores ranged from 2.87 (+/- 0.68) on athletic competence to 3.40 (+/- 0.56) on global self-worth. Self-esteem changed significantly (p < 0.05) over 3 years in the domains of scholastic competence, social acceptance, and physical appearance. Self-esteem at follow-up was associated with visual symptoms, attitude toward glasses, age, gender, and ethnicity. CONCLUSIONS: Lens assignment and myopia progression were not associated with self-esteem in the COMET cohort. These children had high levels of self-esteem, suggesting that having myopia does not negatively impact self-esteem. Follow-up reports will monitor self-esteem and related factors in this cohort of myopic children over the course of adolescence and early adulthood.     

Brain-specific chemical delivery systems for beta-lactam antibiotics. Synthesis and properties of some dihydropyridine and dihydroiosquinoline derivatives of benzylpenicillin

Six chemical delivery systems (CDS) were synthesized for benzylpenicillin in order to improve its transport across the blood-brain barrier. The CDS's were based on a dihydropyridine----quaternary pyridinium ion redox system, analogous to the naturally occurring NADH----NAD+ system. Two different types of CDS's were prepared: benzylpenicillin esters of diols in which the other hydroxyl group is esterified by dihydrotrigonelline and benzylpenicillin esters of amino alcohols in which the amine group is acylated by dihydrotrigonelline, or by 1,2-dihydro-2-methyl-4-isoquinolinecarboxylic acid. Lipophilicities of the CDS's were proved to be much higher than those of benzylpenicillin by using Rm values as lipophilicity indexes. Upon oxidation, all of the CDS's gave the quaternary ion forms. Kinetic studies in buffer (pH profiles) indicated that the quaternary salts released benzylpenicillin in pH range of 5-9 via hydrolysis. The CDS's in acidic media yielded as the major reaction product 6-hydroxy-1,4,5,6-tetrahydropyridines as a result of water addition, while in basic conditions benzylpenicillin was released. The water addition reaction was dependent on the CDS's structure, being more prevalent in the case of the "amide-esters". The dihydroisoquinoline CDS was rather stable in the pH range 5-8.     

Reliability and factorial structure of the Chinese version of the General Health Questionnaire

The Chinese version of the General Health Questionnaire (GHQ) was administered to 2,150 Chinese secondary school students. The GHQ was found to have high internal consistency as a scale and high item-total correlations for most of the items. Factor analysis with a five-factor solution showed that five factors were abstracted from the scale, namely, anxiety, depression, inadequate coping, interpersonal dysfunctioning, and sleep disturbances. By randomly splitting the total sample into two subsamples, these five factors could be reproduced reliably, and high coefficients of congruence were found. The psychometric properties of the Chinese version of the GHQ and the implications of the findings were discussed.     

Proliferative Responses of Rabbit Lymphocytes to Pasteurella multocida Decrease with Prolonged Immunization

Peripheral blood and splenic lymphocytes from rabbits immunized with Pasteurella multocida by various schedules were stimulated to undergo blast transformation in vitro in response to this antigen. Repeated immunizations suppressed this response.     

Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1‐related syndrome

Autosomal dominant (de novo) mutations in PBX1 are known to cause congenital abnormalities of the kidney and urinary tract (CAKUT), with or without extra‐renal abnormalities. Using trio exome sequencing, we identified a PBX1 p.(Arg107Trp) mutation in a deceased one‐day‐old neonate presenting with CAKUT, asplenia, and severe bilateral diaphragmatic thinning and eventration. Further investigation by droplet digital PCR revealed that the mutation had occurred post‐zygotically in the father, with different variant allele frequencies of the mosaic PBX1 mutation in blood (10%) and sperm (20%). Interestingly, the father had subclinical hydronephrosis in childhood. With an expected recurrence risk of one in five, chorionic villus sampling and prenatal diagnosis for the PBX1 mutation identified recurrence in a subsequent pregnancy. The family opted to continue the pregnancy and the second affected sibling was stillborn at 35 weeks, presenting with similar severe bilateral diaphragmatic eventration, microsplenia, and complete sex reversal (46, XY female). This study highlights the importance of follow‐up studies for presumed de novo and low‐level mosaic variants and broadens the phenotypic spectrum of developmental abnormalities caused by PBX1 mutations.