Infantile cortical hyperostosis associated with the Wiskott-Aldrich syndrome

A case report of an infant with the Wiskott-Aldrich syndrome and clinical and radiological features of infantile cortical hyperostosis (Caffey disease) is presented. This is the third case described of the association of these two rare disorders and gives further support to the role of an immunologic defect in the pathogenesis of infantile cortical hyperostosis.Abbreviations HLA human leucocyte antigen - PHA phytohaemagglutinin - PPD purified protein derivate     

Successful Treatment of Mepolizumab- and Prednisolone-resistant Allergic Bronchopulmonary Aspergillosis with Dupilumab

A 45-year-old man with allergic bronchopulmonary aspergillosis (ABPA) was treated with oral prednisolone (PSL) (30 mg/day), inhaled corticosteroids, and long-acting beta2-agonists. After confirmation of a PSL-dependent status (8 mg/day), subcutaneous injection with anti-interleukin (IL)-5 antibody (mepolizumab, 100 mg/month) was performed, and the PSL dose was tapered to 5 mg/day. However, ABPA recurred and proved refractory to oral itraconazole (200 mg/day). Alternative subcutaneous injection therapy with dupilumab (induction dose of 600 mg followed by a maintenance dose of 300 mg/2 weeks) enabled the successful withdrawal of oral PSL without clinical deterioration. This case demonstrates the potential utility of dupilumab for steroid-dependent ABPA via the synergistic suppression of IL-4 and IL-13 compared to monotherapy with anti-IL-5 antibody.     

The paranoid syndrome in the course of a brain tumor--case study

An inpatient case of The Mental Hospital in Zurawica, in which an appearance of a brain tumor was preceded by a paranoid syndrome, was described in this article. One of the numerous clinical situations, when an appearance of a somatic disease was preceded by manifestation of psychic disturbances, is described in this article.     

Atria selective prolongation by NIP-142, an antiarrhythmic agent, of refractory period and action potential duration in guinea pig myocardium

NIP-142 is a novel benzopyran compound that was shown to prolong the atrial effective refractory period and terminate experimental atrial fibrillation in the dog. In the present study, we examined the effects of NIP-142 on isolated guinea pig myocardium and on the G-protein-coupled inwardly rectifying potassium channel current (acetylcholine-activated potassium current; I(KACh)) expressed in Xenopus oocytes. NIP-142 (10 and 100 microM) concentration-dependently prolonged the refractory period and action potential duration in the atrium but not in the ventricle. E-4031 and 4-aminopyridine prolonged action potential duration in both left atrium and right ventricle. Prolongation by NIP-142 of the atrial action potential duration was observed at stimulation frequencies between 0.5 and 5 Hz. In contrast, the prolongation by E-4031 was not observed at higher frequencies. Tertiapin, a blocker of I(KACh), prolonged action potential duration in the atrium but not in the ventricle. NIP-142 completely reversed the carbachol-induced shortening of atrial action potential duration. NIP-142 (1 to 100 microM), as well as tertiapin (0.1 to 100 nM), concentration-dependently blocked I(KACh) expressed in Xenopus oocytes; the blockade by NIP-142 was not affected by membrane voltage. In conclusion, NIP-142 was shown to prolong atrial refractory period and action potential duration through blockade of I(KACh) which may possibly explain its previously described antiarrhythmic activity. NIP-142 has pharmacological properties that are different from classical class III antiarrhythmic agents such as atria specificity and lack of reverse frequency dependence, and thus appears promising for the treatment of supraventricular arrhythmia.     

The experience of parents of adult sons with Duchenne muscular dystrophy regarding their prolonged roles as primary caregivers: a serial qualitative study

Purpose: Mechanical ventilation has allowed a greater number of patients with Duchenne muscular dystrophy (DMD) to transition into adulthood. However, the role of a child’s parent as a caregiver lasts throughout the child’s lifetime. We explored parents’ experiences of prolonged caregiving using serial interviews, analyzed using constructivist grounded theory.

Materials and methods: Fourteen parents (average age 53.9?years) with sons with DMD (average age 23.2?years) were interviewed two to four times, over a 3-year period. Data were analyzed using a grounded theory approach.

Results: Two categories of responses were defined as strengths, and four as weaknesses. The strengths were related to family member support and confidence in parenting ability. The weaknesses were related to the anticipation of aging with the ongoing burden of caring for adult sons, regrets, sharing of responsibility versus having a fixed role as the primary caregiver, and economic burden. The weaknesses became more pronounced as the duration of caregiving increased. Parents’ acceptance of and immobilization in their role of primary caregiver led to prolonged derivative dependency.

Conclusion: Practical support for parental caregivers, who experience a marked increase in the duration of their caregiving role while facing their own aging-related challenges, are required.

• Implications for Rehabilitation

• Children with DMD are living longer and are transitioning into adulthood; a successful transition involves becoming as independent as possible and maintaining a positive sense of personal identity.

• Despite entering adulthood, the parental caregiver’s caregiving role continues.

• Rehabilitation professionals, who are able to provide long-term, continued support from childhood into adulthood, should be aware that parental caregivers’ weakness are exacerbated as the duration of caregiving increases.

• Families affected by DMD require multifaceted support that should include support for the parental caregiver.