Mapping of the formin gene and exclusion as a candidate gene for the autosomal recessive form of limb-girdle muscular dystrophy.

Limb-Girdle Muscular Dystrophy (LGMD) is a myopathy with clinical and transmission heterogeneity. The recessive form, LGMD2, has been recently mapped by linkage analysis to 15q. As an attempt to identify the gene involved in this pathology, we tested as candidate gene the LD locus, called LD for limb deformity. This gene has recently been identified and mapped to chromosome 15q13-q14. It is homologous to the murine formin gene which is localized to mouse chromosome 2. Mutations in this murine gene have been shown to cause limb deformity and kidney defect. YAC clones containing the LD gene were isolated and utilised to confirm the cytogenetic localisation. Internal DNA polymorphisms of the LD locus were analyzed in LGMD2 and CEPH families. The LD gene was mapped between the alpha cardiac actin gene and the D15S24 locus. Crossovers between the LGMD2 and the LD loci excluded the LD gene as a candidate for LGMD2.     

Nonimmune hydrops caused by massive fetomaternal hemorrhage and treated by intravascular transfusion.

Fetal hydrops at 26 weeks' gestation was diagnosed following a massive fetomaternal hemorrhage. Fetal intravascular transfusion was performed, and the hydrops completely resolved within 72 hours. The fetus required one more transfusion at 27 weeks' gestation. A subsequent percutaneous umbilical blood sampling at 30 weeks' gestation demonstrated a normal fetal hematocrit. A vaginal delivery at term resulted in a normal newborn. Massive fetomaternal hemorrhage is a well-known cause of nonimmune hydrops and may occur spontaneously in an otherwise normal pregnancy. Confirmation by percutaneous umbilical blood sampling and treatment by intravascular transfusion is recommended when massive fetomaternal hemorrhage causes hydrops in preterm gestations.     

Fertilization and early embrology: Monozygotic twinning in the human is associated with the zona pellucida architecture

Six cases of identical twin pregnancies which occurred in 2163cycles of in-vitro fertilization during a 3 year period arereported. Monozygosity was confirmed when the number of fetusesexceeded the number of embryos replaced (n = 4) or when twoconcepti were observed in a single amniotic sac (n = 2). Eachof the reported pregnancies resulted from replacement of embryoseither with naturally thin zonae pellucida or embryos whosezonae had been breached during micromanipulation for assistedfertilization (subzonal sperminsertion) or assisted hatching.That such cases exclusively gave rise to monozygosity suggestsa link between the physical state of the zona pellucida, hatching,and generation of identical twins.     

BIBLIOTHERAPY

Bibliotherapy is the use of literature to help heal. It can be an effective intervention for nurse-midwives to use with clients. Presented is a discussion of how to do bibliotherapy and an annotated bibliography of resources.     

Anaphylaxis to omeprazole: diagnosis and desensitization protocol.

BACKGROUND: Omeprazole is an inhibitor of the parietal cell enzyme H+/K+ adenosine triphosphatase. Immediate-type hypersensitivity reactions, such as urticaria, angioedema, and hypotension, induced by omeprazole and other proton pump inhibitors are rare. OBJECTIVES: To confirm the immediate-type mechanism of recurrent anaphylactic reactions to the repeated administration of omeprazole using skin testing and to enable safe administration of the drug after successful oral desensitization. METHODS: Intradermal skin tests were performed with omeprazole (0.04 and 0.4 mg/mL) prepared from the oral and intravenous commercial preparations and with pantoprazole (0.02 and 0.2 mg/mL) prepared from the oral commercial preparation. Skin tests were repeated after completion of the desensitization. Oral desensitization was applied at a starting dose of 0.001 mg of omeprazole, and a full dose of 16 mg was achieved after 5.6 hours (cumulative dose of 32.6 mg). RESULTS: Intradermal skin test results were positive to omeprazole and pantoprazole at all tested concentrations. After successful desensitization, omeprazole was administered in the full dose uneventfully. The wheal size of the intradermal skin tests performed after completion of the desensitization was significantly reduced. CONCLUSION: When indicated, this newly designed desensitization protocol may be used in patients with omeprazole-induced anaphylaxis.     

Impact of early lifetime trauma in later life: depression among Holocaust survivors 60 years after the liberation of Auschwitz.

RATIONALE: Holocaust survivors, who experienced trauma 60 years ago, provide an opportunity to explore the impact of early lifetime trauma in later life and, in particular, the interplay of depression and posttraumatic stress disorder (PTSD). In this study, the authors contrast depressed Holocaust survivors (HD), nondepressed Holocaust survivors (HND), and older depressed persons (CD). METHODS: The sample consisted of 36 consecutive Holocaust survivors (mean age: 79 years) treated in a primary care practice, among whom 20 (56%) were diagnosed as having a major depressive disorder and 16 as nondepressed; 18 depressed non-Holocaust Jewish primary care patients served as controls (mean age: 84 years). The authors examined nine clinical and social variables. The Kruskal-Wallis, Mann-Whitney U, and chi(2) tests were used to contrast the groups. The authors used a conservative significance level of .01. RESULTS: In contrast to the CD group, the HD group was significantly older, more likely to report PTSD and guilt symptoms, to have higher Beck Anxiety Inventory (BAI) and Brief Psychiatric Rating Scale (BPRS) scores, and to have more impaired social functioning. In contrast to the HND group, the HD group was significantly more likely to report PTSD and guilt feelings, to have higher Hamilton Depression Scale (HAM-D), BAI, and BPRS scores, and to have more impaired social functioning. In contrast to the CD group, the HND group was significantly more likely to have PTSD symptoms and to have lower HAM-D and BPRS scores. CONCLUSIONS: The prevalence of depression and PTSD symptoms were very high among survivors. Depressed survivors had significantly worse psychologic and social functioning than depressed controls. Depressed survivors had more PTSD symptoms than nondepressed survivors, although it is unclear as to the causal direction of the relationship between depression and PTSD.     

Improved Assessment of Significant Activation in Functional Magnetic Resonance Imaging (fMRI): Use of a Cluster-Size Threshold

The typical functional magnetic resonance (fMRI) study presents a formidable problem of multiple statistical comparisons (i.e, > 10,000 in a 128 x 128 image). To protect against false positives, investigators have typically relied on decreasing the per pixel false positive probability. This approach incurs an inevitable loss of power to detect statistically significant activity. An alternative approach, which relies on the assumption that areas of true neural activity will tend to stimulate signal changes over contiguous pixels, is presented. If one knows the probability distribution of such cluster sizes as a function of per pixel false positive probability, one can use cluster-size thresholds independently to reject false positives. Both Monte Carlo simulations and fMRI studies of human subjects have been used to verify that this approach can improve statistical power by as much as fivefold over techniques that rely solely on adjusting per pixel false positive probabilities.     

Transient acantholytic dermatosis treated with isotretinoin

Transient acantholytic dermatosis is a self-limiting benign disease. It is characterized by multiple pruritic erythematous papules and papulovesicles found predominantly on the trunk and extremities. This primary acantholytic dermatosis affects individuals older than 40 years. We present a case study of an individual who received a regimen of isotretinoin (Accutane) for treatment of severe pruritus after conventional forms of therapy failed to alleviate his condition and abate the formation of new lesions.