Pulmonary atresia/ventricular septal defect associated with facial port-wine stain and retinal vascular abnormality: a new constellation?

A case with pulmonary atresia/ventricular septal defect associated with port-wine stain and retinal vascular abnormality is reported. Clinical findings were similar to both PHACE syndrome and Sturge-Weber syndrome (SWS). But, the most frequent and well-known features of both syndromes were absent. So, it could not be concluded whether this is a new constellation or an incomplete form of one of the two syndromes. In both situations, presence of a complex congenital heart disease that has not been reported previously makes this case original.     

Apolipoprotein E polymorphism and stroke in a population from eastern Turkey

Human apolipoprotein E (apo E) alleles are polymorphic with significantly different frequencies among different ethnic groups and have been associated with increased risk of coronary heart disease, and postulated as a major genetic susceptibility locus for Alzheimer's disease. Studies undertaken in different populations have shown different association patterns between apo E genotype and stroke. The aim of this study was to determine the risk of apo E genotype in stroke patients living in the eastern part of Turkey. The apo E genotypes and allele frequencies of 229 individuals from the same geographic area were determined by polymerase chain reaction and restriction fragment length polymorphism, of which 103 were patients with a documented history of stroke without other apparent dementia and 126 age-matched healthy subjects as a control group. A reduced E3/4 genotype frequency was found in subjects with stroke and the E2/3 genotype frequency was elevated in patients with previous stroke. There was no association between apo E epsilon4 allele and stroke. The APOE alleles had divergent effects in this population. Association between APOE (the gene) alleles and stroke in this population may be altered due to interaction with other genetic effects. The effects of APOE alleles and genotypes require further study in different populations.     

The Safety and Efficacy of Using Drainage in Arthroscopic Rotator Cuff Repair

PurposeThis study aimed to evaluate the effects of not using a drain or placing a drain in the glenohumeral (GH) or subacromial (SA) joint spaces on fluid retention and pain in the early postoperative period and late clinical outcomes.MethodsPatients who underwent arthroscopic rotator cuff repair between 2018 and 2020 were included in the study. Before the operation, demographic data, range of motion (ROM), visual analog scale (VAS) scores, Constant–Murley scores has documented. Deltoid muscle diameter (DMD) were measured. The total amount of irrigation used during the surgery and the operation duration were recorded, and the active amount of fluid coming from the drain in patients with a drain was recorded. The first postoperative DMD measure was made in the operating room and accepted as day 0. DMD measurements repeated postoperative first and second day. VAS assessments were performed on the postoperative first and second days. At the outpatient clinic, these measurements were repeated on the first and second weeks after discharge. Functional evaluations were made with ROM and Constant–Murley scores at the final follow-up examination.ResultsThere was no difference in the amount of drainage between the two groups in which a drain was used. When the three groups were compared among themselves regarding preoperative and postoperative VAS scores, Constant–Murley scores, and DMD, no significant difference was found.ConclusionsWe do not recommend the routine use of drains after arthroscopic rotator cuff surgery in terms of cost-effectiveness.Level of evidenceLevel II: Prospective Cohort Study.     

Recurrent priapism in spinal cord injury: A case report

Context: Recurrent priapism is characterized by repetitive episodes of erections which are unrelated to sexual interest or stimulation. It is extremely rare in patients with spinal cord injury (SCI). There are a number of conservative agents used in the treatment.Findings: We describe the case of a 20-year-old male with cervical-5 American Spinal Injury Association (ASIA) Impairment Scale (AIS) grade A tetraplegia as a result of a diving accident 2 years ago. He declared that the recurrent penile erections occurred up to 15–20 times day and night every day and lasted up to 20 min each time unrelated to sexual interest or stimulation. He was prescribed baclofen 10 mg, twice daily. The frequency and duration of erections decreased to 3–5 times/day lasting for about 5 min each and the patient reported a high treatment satisfaction.Conclusion: The presentation of this case is to remind clinicians this rare but distressing condition of recurrent priapism seen in men with complete spinal cord lesions and to summarize the use of medications, most commonly baclofen, to alleviate the condition.     

Effect of extended wear disposable contact lenses on tear LTC4 in giant papillary conjunctivitis

Disposable contact lenses have been proposed as an alternative treatment of giant papillary conjunctivitis (GPC), a common contact lens complication associated with increased tear inflammatory mediators, especially LTC(4). In this study, tear LTC(4) was determined by ELISA in tears from eight patients, fitted with disposable contact lenses for the treatment of manifest GPC. An initial decrease in tear LTC(4) in the first ten days of disposable contact lens wear was later followed by increased LTC(4) in six of eight patients (75%) at the end of the first month of disposable contact lens wear. The results of this study indicate that extended wear disposable contact lenses might have a limited place in GPC treatment, since they do not prevent pathogenic inflammatory mediator response in the long term.     

Expression of receptor activator of nuclear factor kappaB ligand on bone marrow plasma cells correlates with osteolytic bone disease in patients with multiple myeloma.

PURPOSE: Increased bone resorption is a hallmark of multiple myeloma and is attributable to osteoclast activation. Recent studies showed that the receptor activator of nuclear factor kappaB ligand (RANKL) is the key mediator of osteoclastogenesis and plays a crucial role in bone destruction in malignant bone disease. We found that human myeloma cells express RANKL and analyzed the association of the RANKL expression with the presence of osteolytic bone disease in patients with multiple myeloma. EXPERIMENTAL DESIGN: Flow cytometry was performed on bone marrow samples derived from controls and multiple myeloma patients with or without osteolytic bone lesions on conventional radiography. Plasma cells were identified as CD38++/CD138+ cells. The level of RANKL expression on the surface of bone marrow plasma cells was correlated with the bone status of the patients. RESULTS: The bone marrow plasma cells from controls showed no or only a weak surface expression of RANKL, and the median mean fluorescence index (MFI) was 6. In contrast, expression of RANKL could be detected on bone marrow plasma cells from all of the patients with multiple myeloma, and median MFI was 47. The difference in MFI for RANKL expression of bone marrow plasma cells from controls and myeloma patients was highly significant (P < 0.0005). Myeloma patients with osteolytic bone lesions showed a significantly higher expression of RANKL (median MFI = 60; range, 16-2494) compared with patients without osteolysis (median MFI = 16; range, 6-229; P < 0.0005). CONCLUSIONS: These results show for the first time that the level of RANKL expression by myeloma cells correlates significantly with osteolytic bone disease.     

Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome

Marfan syndrome (MFS) is a multi-systemic autosomal dominant condition caused by mutations in the gene (FBN1) coding for fibrillin-1. Mutations have been associated with a wide range of overlapping phenotypes. Here, we report on an extended family presenting with skeletal, ocular and cardiovascular clinical features. The 37-year-old male propositus, who had chest pain, dyspnea and shortness of breath, was first diagnosed based on the revised Ghent criteria and then subjected to molecular genetic analyses. FBN1 sequencing of the proband as well as available affected family members revealed the presence of a novel variant, c.7828G>C (p.Glu2610Gln), which was not present in any of the unaffected family members. In silico analyses demonstrated that the Glu2610 residue is part of the conserved DINE motif found at the beginning of each cbEGF domain of FBN1. The substitution of Glu2610 with Gln decreased fibrillin-1 production accordingly. Despite the fact that this variation appears to be primarily responsible for the etiology of MFS in the present family, our findings suggest that variable clinical expressions of the disease phenotype should be considered critically by the physicians.