Netherton syndrome-A therapeutic challenge in childhood.

Key Clinical Message: High-dose intravenous immunoglobulin exhibits great potential in the treatment of Netherton syndrome.

Abstract: Netherton syndrome (NS) is a rare autosomal recessive genodermatosis (OMIM #256500) characterized by superficial scaling, atopic manifestations, and multisystemic complications. It is caused by loss-of-function mutations in the SPINK5 gene, which encode a key kallikrein protease inhibitor.

Multilevel "fish-vertebra" sign in a patient with idiopathic osteoporosis.

"Fish-vertebra" is an uncommon deformity of vertebral body shape, consisting of central depression of the superior and inferior surfaces of vertebral bodies. It is characteristic in idiopathic osteoporosis and can help in the differential diagnosis of other conditions, such as osteomalacia, hyperparathyroidism, sickle cell disease, Paget disease, and multiple myeloma.

Online-based software for guiding immediate implantation to replace a tooth with root resorption in the esthetic zone.

This case report describes an alternative approach for the planning of immediate implant placement and provisionalization, which uses a new online dental software that predicts the esthetic outcome.

Revision of subcutaneous implantable cardioverter defibrillator to intermuscular pocket to prevent inappropriate shocks.

Sensing and defibrillation threshold for a S-ICD are impacted by positioning at implant or revision. The intermuscular pocket prevents device migration and provides appropriate, stable sensing vectors.

Unusual pattern of partial failure of preexpanded free parascapular flap for neck reconstruction.

The present article focuses on a relatively rare condition of a partial necrosis of free microvascular flap in a patient with severe postburn contracture of the neck region, subjected to reconstructive microsurgery. Reconstructive microsurgical staged procedure was undertaken to correct the scar contracture and restore the aesthetic unit. Substantial partial flap necrosis, requiring secondary surgery, was observed in the early postoperative period.

Novel mutation in Wilms' tumour 1 gene associated with steroid-resistant nephrotic syndrome.

We report the case of a paediatric patient with steroid-resistant nephrotic syndrome due to a novel dominant Wilms' tumour 1 mutation. The nucleotide change C1184A, identified in exon 9, results in amino acid substitution Ser395Tyr. Genotyping of parents and healthy controls indicated that this is a de novo mutation not present in healthy individuals.

Cost of outpatient hypertension pharmacotherapy: comparative study between Bulgaria and Serbia.

Objective: To compare the prescribing practice and pharmacotherapy outpatient cost of hypertension and its common complications between two neighboring countries, Bulgaria and Serbia. The study questions focus on consistency of the prescribing practice with the treatment guidelines; comparability of the treatment patterns among both countries, and burden of hypertension cost to the population and third party payer in the countries under consideration.

Methods: Retrospective study, one year time horizon is for outpatient therapy.

Education for arthritis patients: a community pharmacy based pilot project.

Unlabelled: There are different kinds of arthritis, widely spread among the population, that make them a clinical problem with social, psychological and economic burden. Different education programs have been developed in order to improve patients' disease management, medication compliance and from there patients' quality of life.

Objective: To develop and implement a community pharmacy-based educational program for patients with arthritis.

Assessment of the decreased productivity of patients with diabetes type 2 in the Clinical Endocrinological Center Sofia, Bulgaria.

This study aims to assess the influence of type 2 diabetes on the patients' productivity and quality of life. The WHO's methodology - HLQ (Health and Labor Questionnaire) is applied. Subjects were 38 patients with type 2 diabetes, diagnosed and treated at the Clinical center on endocrinology at the MU- Specialized hospital center for active treatment- Sofia.