How does the mode of inheritance of a genetic condition influence families? A study of guilt,blame, stigma,and understanding of inheritance and reproductive risks in families with X-linked and autosomal recessive diseases

PURPOSE: While the mode of inheritance of a genetic condition has long been considered to have not only medical, but also psychosocial consequences for families, this supposition has never been tested. METHODS: We surveyed 112 members of 51 families (59% response) with chronic granulomatous disease to determine the influence of mode of inheritance on parents', siblings', and patients' (1) knowledge of inheritance and reproductive risk; (2) concern about risk to future family-members; (3) feelings of guilt and blame; and (4) feelings of stigmatization. Ninety-six members of 51 families (49% response) with Duchenne/Becker muscular dystrophy and spinal muscular atrophy types II/III were also studied. RESULTS: X-linked families had better understanding of inheritance (P < 0.001) and reproductive risks (P < 0.01). X-linked mothers worried more about risks to future generations; other autosomal-recessive family members were as worried. X-linked mothers were more likely to feel guilty (P < 0.01) and blame themselves (P < 0.001). X-linked fathers blamed their child's mother (P < 0.05) and X-linked mothers felt more blamed by the father (P < 0.01). X-linked family-members were more likely to consider being a carrier stigmatizing (P < 0.05). CONCLUSION: When providing genetic counseling, attention should be given to guilt and blame in X-linked families and understanding reproductive risks in autosomal recessive families.     

Ten-year trends in neonatal assisted ventilation of very low-birthweight infants.

OBJECTIVES: To examine ventilatory support for the VLBW infant over the past 10 years in a single academic NICU and determine factors that predicted length of ventilation, death, and CLD. STUDY DESIGN: A retrospective cohort review of neonatal blood gases, ventilatory support, and clinical outcomes. RESULTS: From 1992 through October 2002, 6254 infants were admitted, of whom 2388 required intubation for mechanical ventilation. Of these, 837 were <1500 g at birth (VLBW) infants and 453 were less than 1000 g (ELBW). Total duration of ventilation decreased in all weight groups. Noninvasive ventilatory support increased from 20 to 55% of total ventilation from 1997 to 2002. During this same period, CLD decreased from 20 to 11% in ventilated VLBW infants. Duration of total ventilation was best predicted by birth weight, with each 100 g increment decreasing the duration of ventilation by 71 hours. Lower birth weight, male sex, and a longer total duration of ventilatory support were significant factors in predicting the occurrence of CLD. Death alone was best predicted by lower birth weight and maximum oxygen index (OI). Transported infants had significantly increased maximal OIs, durations of ventilation, and incidence of death. A total of 48% of infants with a single OI >10 either died or survived with CLD. CONCLUSIONS: Birth weight is the best predictor of duration of ventilation, and CLD is best predicted by birth weight, duration of ventilation and male sex. The increasing use of noninvasive strategies has not been associated with an observable increase in respiratory morbidity. VLBW infants with a single OI>10 may benefit from inclusion in future interventional rescue studies.     

Tamponade caused by cardiac lipomatous hypertrophy.

Cardiac lipomatous hypertrophy is an unusual disorder that typically affects the interatrial septum. We report a case in which large subpericardial deposits of fat were initially mistaken for a pericardial effusion and the subsequent clinical picture resembled tamponade. The patient improved following a pericardiectomy.     

How brief is solution focussed brief therapy? a comparative study

Solution Focused Brief Therapy (SFBT) focuses on clients' strengths and expressed goals in an attempt to produce therapeutic change as quickly as possible. This study examined whether clients seen for SFBT were seen for fewer sessions than those seen for cognitive behaviour therapy (CBT) in a clinical psychology service taking adult referrals from primary care. The study was a retrospective one using pseudo-randomization. The results indicated that SFBT clients (n = 41) were seen for two sessions on average compared to five for CBT (n = 119). This difference was accounted for by a higher proportion of the SFBT group being seen for one session only, which is consistent with the approach. A simple therapist-rated outcome scale showed no significant difference between the two groups. Copyright © 2005 John Wiley & Sons, Ltd.     

Use of split-liver allografts does not impair pediatric recipient growth.

The use of split-liver (SL) allografts continues to be an excellent option for many pediatric recipients. Patient and graft survival with this graft type are comparable to patient and graft survival with whole organ grafts. Quality-of-life issues, specifically growth, for SL recipients have not been compared to those of recipients of more conventional whole-organ recipients. Pediatric recipients of SL and whole allografts at 2 institutions were identified. Height, z score, and delta z score were calculated for all recipients for each year after transplant. Between 1995 and 2004, 201 pediatric liver transplants were analyzed. Data were collected on 39 split-graft recipients and 36 whole-size recipients. Only subjects 3 years or younger were included in the study. Growth retardation was present in all recipients at transplant. Height z score post split and whole-size transplant were not statistically different at 1- (P = 0.65), 2- (P = 0.13), and 3-year (P = 0.32) anniversaries, respectively. Catch-up growth was present only in recipients of split grafts. In conclusion, the use of split grafts as opposed to whole-size grafts revealed no significant differences in terms of linear growth. Our report indicates that split-liver transplantation does not impair recipient growth.     

Herpes zoster infection as an immune reconstitution inflammatory syndrome in HIV-seropositive subjects: a review.

The use of highly active antiretroviral therapy (HAART) in the management of human immunodeficiency virus (HIV) infection has resulted paradoxically in the worsening of clinical symptoms of previously subclinical infections, such as herpes zoster (HZ), herpes simplex, angular cheilitis, warts, tuberculosis, hepatitis B and C, cytomegalovirus retinitis, and others, as a result of substantial reconstitution of the host's immune responses. This phenomenon is referred to as immune reconstitution inflammatory syndrome (IRIS). It may affect up to 32% of HIV-seropositive subjects within a wide range of time after the initiation of HAART, but mainly after 8-12 weeks. Mucocutaneous HZ accounts for 7%-12% of the diseases associated with HIV infection that become worse again when the subject's immunity improves from the administration of HAART. It usually occurs after 4 weeks from the initiation of HAART, and under these circumstances the clinical symptoms and natural course of mucocutaneous HZ are similar to those in HIV-seropositive subjects who do not manifest IRIS.     

Predictors of incident depression after hip fracture surgery.

OBJECTIVE: Depression after hip fracture surgery is prevalent and associated with increased mortality rates and impaired functional recovery. The incidence of new-onset depressive symptoms in patients initially not depressed after hip fracture surgery and their relationship with functional recovery is unknown. METHODS: A cohort of 139 nondepressed elderly patients (>60 years) hospitalized for hip fracture surgery were followed up for six months. Clinically significant depressive symptoms were defined as a score of 7 or more on the 15-item Geriatric Depression Scale. RESULTS: The authors found a cumulative incidence rate of 20.5% adjusted for dropouts. Multiple Cox-regression analyses yielded the presence of subthreshold symptoms of depression, anxiety, pain, and cognitive impairment at baseline, the premorbid level of mobility, and a history of (treated) depression as risk factors for incident depression (p <0.05). A forward, conditional procedure identified postoperative pain (hazard ratio [HR] = 1.32, 95% confidence interval [CI]: 1.14-1.53, Wald chi(2) = 13.57, df = 1, p <0.001) and baseline anxiety (HR = 1.25, 95% CI: 1.08-1.44, Wald chi(2) = 8.86, df = 1, p = 0.003) as the strongest independent risk factors. Incident depression was associated with a less favorable outcome at 3 months follow-up. CONCLUSION: This exploratory study identified two treatable baseline characteristics that predicted incident depression in nondepressed patients after hip-fracture surgery.     

Histopathological Diagnosis of Partial and Complete Hydatidiform Mole in the First Trimester of Pregnancy

The diagnosis of molar pregnancy is a continuing diagnostic problem for many practicing histopathologists who are required to examine specimens of products of conception, particularly since changes in gynecological management in recent years have resulted in uterine evacuation at earlier gestations. The aim of this review is to provide practical, up-to-date, diagnostically useful information regarding the histological diagnosis of molar disease in early pregnancy. Pathophysiological issues relevant to molar pregnancies, such as genetic abnormalities, will be briefly summarized, but nonhistopathological aspects of molar disease will not be covered in detail in this review.