Single-stage bilateral conversion arthroplasty for hip fusion via direct anterior approach in a patient with severe ankylosing spondylitis and kyphoscoliosis: a case report.

BACKGROUND: Severe ankylosing spondylitis (AS) frequently involves hip joints and, occasionally, presents with concurrent spinal deformities, such as kyphoscoliosis, creating complex challenges for surgical management. CASE PRESENTATION: We present a 26-year-old Persian male with a history of AS and severe kyphoscoliosis, leading to bilateral hip fusion and immobility. Following spinal deformity correction, a one-stage bilateral conversion to total hip arthroplasty (THA) was conducted through the direct anterior approach. CONCLUSION: Primary correction of spinal deformities allows for extended surgical procedures under general anesthesia. Single stage bilateral hip conversion arthroplasty via the direct anterior approach enhances postoperative mobilization, reduce the risk of re-ankylosis, and improve the overall quality of life for AS patients with this unique presentation.

Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation.

Epidermolysis bullosa (EB) is a genotypically heterogeneous group of disorders characterized by cutaneous blistering and erosions with a tremendous spectrum of severity. One of the distinct forms of EB, Kindler EB (KEB), manifests with blistering and poikiloderma; this subtype of EB is caused by mutations in the FERMT1 gene encoding kindlin-1. In this study, we investigated a patient clinically diagnosed as KEB with reduced FERMT1 gene expression and intensity of immunostaining for kindlin-1. Transmission electron microscopy showed lamina densa reduplication, frequently observed in KEB. However, no mutations were identified in FERMT1 in this patient with consanguineous parents, and this gene resided outside of genomic regions of homozygosity (ROH). Instead, whole-exome sequencing and homozygosity mapping identified a homozygous sequence variant at the +4 position of intron 2 in the USB1 gene, encoding an exoribonuclease required for processing of U6 snRNA, a critical component of spliceosomes. Examination of the patient's RNA by RNA-Seq confirmed the pathogenicity of this variant, causing aberrant splicing predicted to result in loss of function of USB1. Mutations in this gene have been reported in patients with poikiloderma and neutropenia, with a few reported cases in association with skin fragility, a condition distinct from the KEB phenotype. Transcriptome analysis revealed that several genes, expressed in the cutaneous basement membrane zone and previously associated with different subtypes of EB, were differentially downregulated at the mRNA level. EB-associated mRNA downregulation was confirmed at protein levels by skin immunofluorescence. These observations provide a novel mechanism for blistering and erosions in the skin as a result reduced presence of adhesion complexes critical for stable association of epidermis and dermis at the level of cutaneous basement membrane zone.

Association between prostate-specific antigen change over time and prostate cancer recurrence risk: A joint model.

BACKGROUND: Prostate specific antigen (PSA) is an important biomarker to monitor patients after treated with radiation therapy (RT). The aim of this study is to evaluate the relationship between the PSA data and prostate cancer recurrence using the joint modeling. METHODS: This historical cohort study was performed on 422 prostate cancer patients. Inclusion criteria included: patients with localized prostate cancer referring to Cancer Institute in Tehran (Iran) from 2007 to 2012, and under radiation therapy. Joint model has two components or sub-models. We showed the results by parameter estimating the longitudinal sub-model and survival sub-model. EM algorithm, Newton-Gauss and Gauss-Hermit law were used for final model parameters. R software version 3.2 was used for statistical analysis. RESULTS: In this study, considering the inclusion and exclusion criteria, out of 422 patients, the data on 314 cases were selected for analysis and the main result of joint model was obtained. PSA directly and significantly was associated with recurrence risk, therefore increasing 2.6 ml/lit PSA (one unit in transformed PSA) increases 39% recurrence risk (95% CI for RR: 1.09-1.77). Also, slope of PSA trend has significant association with prostate cancer recurrence risk (95% CI for RR: 1.05-1.41). CONCLUSION: This study showed a significant relationship between PSA, and its slope with the recurrence risk by joint model, with regard to the pathological, demographic and clinical features in the Iranian population.

Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.

Dystrophic epidermolysis bullosa is a heritable skin disease manifesting with sub-lamina densa blistering, erosions, and chronic ulcers. COL7A1, encoding type VII collagen, has been identified as the candidate gene for dystrophic epidermolysis bullosa. In this study, we have identified COL7A1 mutations in a large multi-ethnic cohort of 152 extended Iranian families with high degree of consanguinity. The patients were diagnosed by clinical manifestations, histopathology, and immunoepitope mapping. Mutation detection consisted of a combination of single nucleotide polymorphism-based whole-genome homozygosity mapping, Sanger sequencing, and gene-targeted next-generation sequencing. A total of 104 distinct mutations in COL7A1 were identified in 149 of 152 families (98%), 56 (53%) of them being previously unreported. Ninety percent of these mutations were homozygous recessive, reflecting consanguinity in these families. Three recurrent mutations were identified in five or more families, and haplotype analysis suggested a founder effect in two of them. In conclusion, COL7A1 harbored mutations in the overwhelming majority of patients with dystrophic epidermolysis bullosa, and most of them in this Iranian cohort were consistent with autosomal recessive inheritance. The mutation profile attests to the impact of consanguinity in these families.

Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.

Autosomal recessive congenital ichthyosis is a heterogeneous group of disorders associated with mutations in at least nine distinct genes. To ascertain the molecular basis of ichthyosis patients in Iran, a country of approximately 80 million people with a high prevalence of customary consanguineous marriages, we have developed a gene-targeted next generation sequencing array consisting of 38 genes reported in association with ichthyosis phenotypes. In a subset of nine extended consanguineous families, we found homozygous missense mutations in the PNPLA1 gene, six of them being distinct and, to our knowledge, previously unpublished. This gene encodes an enzyme with lipid hydrolase activity, important for development and maintenance of the barrier function of the epidermis. These six mutations, as well as four previously published mutations, reside exclusively within the patatin-like subdomain of PNPLA1 containing the catalytic site. The mutations clustered around the active center of the enzyme or resided at the surface of the protein possibly involved in the protein-protein interactions. Clinical features of the patients showed considerable intra- and interfamilial heterogeneity. Knowledge of the specific mutations allows identification of heterozygous carriers, assisting in genetic counseling, prenatal testing, and preimplantation genetic diagnosis in extended families at risk of recurrence of this disorder, the incidence of which is significantly increased in consanguineous marriages.

Syringomas Accentuated on the Upper Lip.

An 8-year-old boy presented with small, skin-colored papules of 9-months duration on the upper lip. Results of the histopathologic examination were consistent with syringoma. To the best of our knowledge, this is the first case report of syringoma of the mustache area of a child.

Using immunofluorescence (antigen) mapping in the diagnosis and classification of epidermolysis bullosa: a first report from Iran.

BACKGROUND: Immunofluorescence antigen mapping (IFM), is a newly introduced technique for diagnosis and classification of epidermolysis bullosa (EB) disease. The precise level of skin cleavage can be determined using monoclonal antibodies to EB-specific basement membrane zone protein. OBJECTIVE: To apply IFM technique in diagnosis and classification of EB and to identify utility and limitation of this method in our clinical setting. METHODS: IFM was done according to a described protocol by Pohla-Gubo et al. Monoclonal antibodies used for antigen mapping were against cytokeratin 5, cytokeratin 14, α6 integrin, ß4 integrin, laminin 332, Collagen IV, and Collagen VII. RESULTS: IFM was done for 95 referred patients, compromising 49 females and 46 males, aged 5 days to 45 years (mean = 9.5 years). Ninety cases were diagnosed with EB and classified as follows: EB simplex: (n = 13), junctional EB (n = 14), dystrophic EB (n = 62), and Kindler syndrome (n = 1). Diagnosis was not made in five cases as their specimens contained no blister. Confirmatory genetic analysis was done for five junctional cases from two families with clinical features of laryngo-onycho-cutaneous syndrome. Genetic molecular studies showed nonsense mutations in the last codon of exon 39 of the laminin α3a (LAMA3) gene (p.Gln57X) and a donor splice site mutation in LAMA3 (IVS57+5G>A) in the first and second family, respectively. CONCLUSION: IFM technique is relatively simple to perform, and interpretation of the results is not sophisticated. The proportion of inconclusive results will be decreased if the specimens contain freshly induced blister.

Can we use peroneus longus in addition to hamstring tendons for anterior cruciate ligament reconstruction?

BACKGROUND: The aim of this study is to evaluate the possible effects of removing the peroneus longus on the ankle and gait parameters, in order to add insufficient hamstring tendons for anterior cruciate ligament (ACL) reconstruction. MATERIALS AND METHODS: In this controlled clinical trial, 375 patients with ACL rupture who underwent ACL reconstruction arthroscopically using hamstring tendons in the orthopedic clinics of Isfahan University of Medical Sciences in 2010 and 2011 were selected. Fifteen patients were included because their hamstring tendon diameter was lower than 8 mm and peroneus longus was added. After 6 months, the patients were followed using "Kistler force plate" to detect 3D kinematics and kinetics of the ankles and spatiotemporal walking parameters. RESULTS: There was a significant difference between both operated and non-operated ankles in flexion/extension range of motion (P < 0.05). There was no significant difference between the moments of both ankles in sagittal and coronal planes (P > 0.05), but there was a significant difference between the moments of both ankles in the transverse plane (P = 0.006). There was a significant difference in the force of operated and non-operated ankles in all three planes (P < 0.05). There was no significant difference in the mean values of spatiotemporal gait parameters between operated and non-operated sides (P > 0.05). CONCLUSION: Removing the peroneus longus tendon has no effect on gait parameters and does not lead to instability of the ankle. So, it can be used as an autogenous graft in orthopedic surgeries.

Cutaneous leishmaniasis with unusual clinical and histological presentation: report of four cases.

Old world cutaneous leishmaniasis (OWCL) usually causes a single, self-healing and uncomplicated lesion mainly on the exposed area of body. This report presents four cases of OWCL from Iran that misdiagnosed with sarcoidosis, lymphoma, and acne agminata. Two out of four patients showed a history of purplish red plaques for at least 5 years who misdiagnosed as sarcoidosis because of histological and clinical characteristics. The other one presented with flesh-colored nodules disseminated all over his skin that was misdiagnosed as lymphoma for ten years. The last patient was misdiagnosed as acne agminata due to tuberculoid reactions in examination of the lesion biopsy. All the patients responded to the treatment with meglumine antimonate.