Family Quality of Life of South African Families Raising Children with Autism Spectrum Disorder

This article describes the family quality of life among families who are raising a young child with autism spectrum disorder. Survey research was conducted with 180 families of children with autism spectrum disorder who were receiving disability-related services in the Gauteng province of South Africa. The principle measure used was the Beach Center Family Quality of Life Scale to assess five subdomains: family interaction, parenting, emotional well-being, material/physical well-being, and disability-related support. Results indicated that families felt the most satisfied with disability-related support and the least satisfied with the family’s emotional well-being. Family income, family type, and the severity level of autism were significantly associated with how satisfied families felt about their quality of life.     

Pulsatile prolactin secretion in hyperprolactinemia due to presumed pituitary stalk interruption

PRL, like other anterior pituitary hormones, is normally secreted in a pulsatile fashion. However, it is not known whether such pulses depend on dopamine and/or other hypothalamic factors. This question can be addressed by investigating patients with large pituitary mass lesions, since such patients often have hyperprolactinemia due to disruption of normal hypothalamic input to the pituitary gland. Six such patients (5 with non-PRL-secreting tumors and 1 with a craniopharyngioma) and 11 healthy control subjects had PRL levels measured every 15 min over 24 h. PRL pulses were located by cluster analysis. All patients had PRL pulses of normal frequency, but increased amplitude. Circadian variation in PRL pulse amplitude, present in healthy women, was abolished in tumor patients. These results imply that normal pituitary levels of dopamine do not control the generation of PRL pulses. Instead, PRL pulses may arise from the pituitary gland, with pulse amplitude and circadian rhythm modulation by dopamine and other hypothalamic factors. Alternatively, the mild hyperprolactinemia associated with large hypothalamic-pituitary tumors may represent partial impairment of dopamine secretion, with sufficient pituitary dopamine levels to maintain normal PRL pulse frequency.     

The longitudinal relationship between personality disorder dimensions and global functioning in a community-residing population

BACKGROUND: Little is known about the long-term outcome of personality disorder traits. The purpose of this study was to investigate, in a community-residing population, the longitudinal relationship between psychiatrist-assessed personality disorder scores and global functioning 13-18 years later. METHOD: A stratified random sample of residents of east Baltimore were examined by psychiatrists in 1981 and asssessed for DSM-III personality disorders using a semi-structured instrument, the Standardized Psychiatric Examination. A total of 292 persons were re-examined by different psychiatrists during 1994-1999 using the Schedules for the Assessment of Neuropsychiatry (SCAN). After completion of the SCAN, the subjects' functional status was evaluated using the Global Assessment of Functioning (GAF). The relationships between personality dimensions and follow-up GAF scores were evaluated using linear regression models. RESULTS: All of the personality disorder scales measured in 1981 were inversely related to functioning 13-18 years later, with the exception of narcissistic and compulsive scales. After controlling for Axis I disorders diagnosed contemporaneously with GAF assessment, schizoid, antisocial, borderline, histrionic, and avoidant personality disorder scores significantly predicted GAF scores. CONCLUSIONS: Most dimensions of DSM-III personality disorder traits were significantly associated with global functioning after an interval of 15 years. However, only schizoid, antisocial, borderline, histrionic, and avoidant personality disorder traits had long-term effects on functioning when Axis I disorders at follow-up were controlled. This suggests that the functional effect of the other personality disorder traits may be mediated through their relationship with Axis I disorders. Future research is needed using more specific and sensitive outcome measures.     

Clinical use of the abiomed BVS 5000 as a pulsatile extracorporeal membrane oxygenation unit

The traditional extracorporeal membrane oxygenation circuit uses a centrifugal pump. These pumps require close monitoring and are subject to complications. In addition, they do not take advantage of the potential benefits of pulsatile flow. These extracorporeal membrane oxygenation circuits use a single pump with an inline oxygenator. If cardiac failure persists after respiratory recovery has occurred, removal of the oxygenator requires an additional procedure to convert the patient to biventricular support. This report describes a circuit in which an oxygenator is connected to a pulsatile ventricular assist device. Single and dual circuit configurations are illustrated. Recommendations for pulmonary care during support are also described.     

Randomized clinical trial of the efficacy of bupropion combined with nicotine patch in the treatment of adolescent smokers

Adolescent smokers (N = 211) were randomized to 1 of 2 groups: (a) nicotine patch plus bupropion SR (sustained release; 150 mg per day) or (b) nicotine patch plus placebo. Group skills training sessions were conducted each week by research staff. Abstinence rates at Weeks 10 and 26 were as follows: (a) patch plus bupropion, 23% and 8%, (b) patch plus placebo, 28% and 7%. Despite the lack of a treatment effect, a large majority of adolescents in both treatment groups reduced their consumption to a few cigarettes per day or less and maintained this reduction over time. Similarly, an examination of survival curves revealed that by the end of treatment many had managed to avoid a return to daily smoking. These findings are encouraging and suggest new avenues for research. For example, treatments of the kind examined in this report, augmented by extended maintenance therapies, may yield higher long-term success rates.     

46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism

Stoppa‐Vaucher S, Ayabe T, Paquette J, Patey N, Francoeur D, Vuissoz J‐M, Deladoëy J, Samuels ME, Ogata T, Deal CL. 46, XY gonadal dysgenesis: new SRY point mutation in two siblings with paternal germ line mosaicism. Familial recurrence risks are poorly understood in cases of de novo mutations. In the event of parental germ line mosaicism, recurrence risks can be higher than generally appreciated, with implications for genetic counseling and clinical practice. In the course of treating a female with pubertal delay and hypergonadotropic hypogonadism, we identified a new missense mutation in the SRY gene, leading to somatic feminization of this karyotypically normal XY individual. We tested a younger sister despite a normal onset of puberty, who also possessed an XY karyotype and the same SRY mutation. Imaging studies in the sister revealed an ovarian tumor, which was removed. DNA from the father's blood possessed the wild type SRY sequence, and paternity testing was consistent with the given family structure. A brother was 46, XY with a wild type SRY sequence strongly suggesting paternal Y‐chromosome germline mosaicism for the mutation. In disorders of sexual development (DSDs), early diagnosis is critical for optimal psychological development of the affected patients. In this case, preventive karyotypic screening allowed early diagnosis of a gonadal tumor in the sibling prior to the age of normal puberty. Our results suggest that cytological or molecular diagnosis should be applied for siblings of an affected DSD individual.     

Effect of Colchicine on Platelet-Platelet and Platelet-Leukocyte Interactions: a Pilot Study in Healthy Subjects

The cardioprotective mechanisms of colchicine in patients with stable ischemic heart disease remain uncertain. We tested varying concentrations of colchicine on platelet activity in vitro and a clinically relevant 1.8-mg oral loading dose administered over 1 h in 10 healthy subjects. Data are shown as median [interquartile range]. Colchicine addition in vitro decreased light transmission platelet aggregation only at supratherapeutic concentrations but decreased monocyte- (MPA) and neutrophil-platelet aggregation (NPA) at therapeutic concentrations. Administration of 1.8 mg colchicine to healthy subjects had no significant effect on light transmission platelet aggregation but decreased the extent of MPA (28 % [22–57] to 22 % [19–31], p?=?0.05) and NPA (19 % [16–59] to 15 % [11–30], p?=?0.01), platelet surface expression of PAC-1 (370 mean fluorescence intensity (MFI) [328–555] to 333 MFI [232–407], p?=?0.02) and P-selectin (351 MFI [269–492] to 279 [226–364], p?=?0.03), and platelet adhesion to collagen (10.2 % [2.5–32.6] to 2.0 % [0.2–9.5], p?=?0.09) 2 h post-administration. Thus, in clinically relevant concentrations, colchicine decreases expression of surface markers of platelet activity and inhibits leukocyte-platelet aggregation but does not inhibit homotypic platelet aggregation.     

How effective is patient-controlled analgesia? A randomized comparison of two protocols for pain relief during oocyte recovery

Although the conventional method of pain relief during outpatient oocyte recovery involves physician-administered drugs, patient- controlled analgesia (PCA) offers an alternative technique with the potential to give women more control over peroperative analgesia. We conducted a prospective randomized study to compare the effect of fentanyl administered either through a PCA delivery system or by a physician. Thirty-nine women were randomized to PCA during egg collection while 42 were allocated to receive intermittent doses administered by a physician. Pain was evaluated by means of a 100 mm linear analogue scale. The mean (SD) pain score in the PCA group was 38.5 (19.8) while in the other group it was 46.1 (21.3) (P = 0.1). In the PCA group, 64% of women felt very satisfied with their analgesia as compared with 57% in the non-PCA group (P = 0.6). Among the PCA users, 39% of demands were successful. Significantly more fentanyl (97.5 microg) was used in the PCA group than in the other group (84.6 microg) (P = 0.03). Though intraoperative PCA with fentanyl is an effective alternative to physician-administered techniques, many women still feel the need for more analgesia during the procedure.