Genotypic and phenotypic spectrum of Myofibrillar Myopathy 7 as a result of Kyphoscoliosis Peptidase deficiency: The first description of a missense mutation in KY and literature review.

KY is located on chromosome 3 and encodes a transglutaminase-like protein in the skeletal muscles, namely Kyphoscoliosis Peptidase. KY is primarily involved in the formation and stabilization of neuromuscular intersections making it essential for the development of the musculoskeletal system. Mutations in KY cause Myofibrillar Myopathy-7 (MFM-7) and Hereditary Spastic Paraplegia (HSP). MFM-7 is an early onset muscle disorder with an autosomal recessive inheritance marked by progressive muscle weakness and joint contractures. Herein, we describe an Iranian family with MFM-7 caused by a homozygous novel variant in KY. We identified a homozygous variant (NM_178554.6:c.1247T > A, p. Ile416Asn) in KY in two patients born to consanguineous parents and the same heterozygous mutation in their parent by Whole-Exome Sequencing. The patients manifest muscle weakness, muscle atrophy, mobility restriction, and hyporeflexia. Lastly, we reviewed the phenotype and corresponding genotype of the previously reported cases with pathogenic variants in KY.

A qualitative study of the difficulties in reaching sustainable universal health insurance coverage in Iran.

OBJECTIVE To understand the Iranian health financing system and provide lessons for policy makers about achieving universal coverage. METHODS Twenty-five interviewees from seven major health insurance companies were selected for a qualitative study in 2007. Using a semi-structured interview, three main tasks of the health financing system (revenue collection, risk pooling and purchasing) were investigated. A framework method was applied for the data analysis. RESULTS The results of the study show the following seven major obstacles to universal coverage: unknown insured rate; regressive financing and non-transparent financial flow; fragmented and non-compulsory system; non-scientifically designed benefit package; non-health-oriented and expensive payment system; uncontrolled demands; and administrative deficiency. A long-term systematic plan is required to address the above problems.