Matrix Metalloproteinases 2 and 9 Polymorphism in Patients With Myeloproliferative Diseases: A STROBE-Compliant Observational Study

Chronic myeloproliferative disorders such as polycythemia vera (PV), essential thrombocytosis (ET), and idiopathic myelofibrosis arise from clonal proliferation of neoplastic stem cells in the bone marrow. Matrix metalloproteinases (MMPs) are a family of zinc-dependent endopeptidases that have potential to degrade all types of extracellular matrix (ECM) and also play a role in remodeling of the ECM. It is known that MMPs play a role in bone marrow remodeling.The primary goal of our study is to explore the relationship between chronic myeloproliferative diseases and some of MMP gene polymorphisms. The demonstration of a relationship will help to understand whether these polymorphisms may be a potential early diagnosis marker of the diseases.Patients were selected from outpatient clinics of Turgut Ozal University Hospital, Ankara, Turkey, between December 2010 and May 2011. Twenty-eight patients that previously diagnosed and followed-up with PV, 17 with secondary polycythemia (SP), and 12 with ET were enrolled in the study, along with a control group of 22 healthy people.DNA was isolated from peripheral blood. Using polymerase chain reaction–restriction fragment length polymorphism method, MMP2 and MMP9 gene polymorphisms were analyzed with agarose gel electrophoresis. There was a statistically significant difference between the study groups and the control group in terms of Gln279Arg polymorphisms rates of MMP9. The highest MMP9 Gln279Arg polymorphism rate was observed in the ET group. But nobody from the control group had polymorphic MMP9. There was no statistically significant difference between the groups in terms of MMP2-735 C > T polymorphism rates.In conclusion, MMP9 gene Gln279Arg polymorphism was associated with ET, SP, and PV diseases. Hence, we believe that these gene polymorphisms may play a role in the mechanism of bone marrow fibrosis and may be a factor that increases the risk of thrombosis. Illumination of the molecular basis of the relationship between MMP-thrombosis and MMP-fibrosis provides a better understanding of the pathophysiology of PV and ET diseases and will allow new approaches to diagnosis and treatment.     

A comparison of double single suture-button fixation,suture-button fixation,and screw fixation for ankle syndesmosis injury: A retrospective cohort study

Different methods have been used throughout the years for syndesmotic injury but there is no consensus on the ideal treatment. Some methods are expensive and some have more complications. The aim of this study is to compare single suture endobutton with double suture endobutton and screw fixation for syndesmotic injury.Sixty nine patients with syndesmotic injury with fibular fractures whom were treated with a single interosseous suture endobutton system (ZipTight^TM, Zimmer Biomet), a double interosseous suture endobutton system (ZipTight^TM, Zimmer Biomet) and 1 syndesmotic screw (TST, Istanbul, Turkey) were included in this study. Functional and radiological results from patient records between 2015 and 2018 were retrospectively evaluated.Twenty patients were treated with the double interosseous suture endobutton, 23 were treated with the single interosseous suture endobutton, and 26 were treated with traditional AO screw fixation. Three patients from the screw fixation group (11.5%) required revision surgery (P < .05). All the radiologic and clinical outcomes were statistical similar in all 3 groups.Our findings showed that the interosseous suture endobutton system is at least as safe as the screw fixation technique for treatment of syndesmosis joint injuries and can be used as an alternative to the screw method. The interosseous suture endobutton system eliminates the need for a second surgery to remove the hardware, which minimizes the probability of re-diastasis. Since our results showed no statistical difference between single and double interosseous suture endobutton systems, the less costly single endobutton system may be the better alternative.     

The diagnostic value of image guided percutaneous fine needle aspiration biopsy in equivocal mediastinal masses

Background and aims The aim of this study was to assess the diagnostic value of image guided percutaneous fine needle aspiration (FNA) biopsy in equivocal mediastinal masses.Patients Sixty-six patients with an equivocal mediastinal mass who underwent FNA biopsy between 1993 and 2003 were eligible for final analysis. The cytological and definitive diagnosis of masses were grouped as primary 22 (33%)−30 (46%) and secondary (metastatic) neoplasms 18 (27%)−18 (27%) and nonneoplastic lesions 20 (30%)−18 (%27) respectively.Results The diagnostic accuracy (%95 C.I.) of FNA biopsy for primary mediastinal neoplasms, secondary neoplasms and nonneoplastic lesions were found to be 93.3 (83.8–98.2)%, 100 (95.1–100)%, 93.3 (83.8–98.2)%, respectively.Conclusion Image guided percutaneous FNA biopsy is a safe and highly accurate diagnostic method for equivocal mediastinal masses.     

Characterization of a highly polymorphic marker adjacent to the SLC4A1 gene and of kidney immunostaining in a family with distal renal tubular acidosis.

BACKGROUND: Mutations in the human SLC4A1 (AE1/band 3) gene are associated with hereditary spherocytic anaemia and with distal renal tubular acidosis (dRTA). The molecular diagnosis of AE1 mutations has been complicated by the absence of highly polymorphic genetic markers, and the pathogenic mechanisms of some dRTA-associated AE1 mutations remain unclear. Here, we characterized a polymorphic dinucleotide repeat close to the human AE1 gene and performed an immunocytochemical study of kidney tissue from a patient with inherited dRTA with a defined AE1 mutation. METHODS: One CA repeat region was identified in a phage P1-derived artificial chromosome (PAC) clone containing most of the human AE1 gene and the upstream flanking region. We determined its heterozygosity value in multiple populations by PCR analysis. Genotyping of one family with dominant dRTA identified the AE1 R589H mutation, and family member genotypes were compared with the CA repeat length. AE1 and vH(+)-ATPase polypeptides in kidney tissue from an AE1 R589H patient were examined by immunocytochemistry for the first time. RESULTS: This CA repeat, previously reported as D17S1183, is approximately 90 kb upstream of the AE1 gene and displayed considerable length polymorphism, with small racial differences, and a heterozygosity value of 0.56. The allele-specific length of this repeat confirmed co-segregation of the AE1 R589H mutation with the disease phenotype in a family with dominant dRTA. Immunostaining of the kidney cortex from one affected member with superimposed chronic pyelonephritis revealed vH(+)-ATPase-positive intercalated cells in which AE1 was undetectable, and proximal tubular epithelial cells with apparently enhanced apical vH(+)-ATPase staining. CONCLUSIONS: The highly polymorphic dinucleotide repeat adjacent to the human AE1 gene may be useful for future studies of disease association and haplotype analysis. Intercalated cells persist in the end-stage kidney of a patient with familial autosomal dominant dRTA associated with the AE1 R589H mutation. The absence of detectable AE1 polypeptide in those intercalated cells supports the genetic prediction that the AE1 R589H mutation indeed causes dominant dRTA.     

Application of moist wound healing to the gerontologic population

During a five year period, approximately 150 elderly patients were treated with a water vapor and oxygen permeable membrane (VPM) in an open fashion. The following is important when treating elderly patients with VPM: xerosis or irritant dermatitis must be thoroughly treated before use of VPM as it will not adhere to abnormal skin; alcohol or acetone should not be used to prepare the treatment site as they cause irritation; VPM must not be stretched prior to placement as friction blisters occur in fragile, elderly skin; prior to removal, VPM should be soaked in soapy water or its surface rubbed lightly with alconol to break the adhesive bond to prevent stripping off epidermis; in patients with protein-calorie malnutrition, serum albumin should be monitored as large amounts of protein-rich fluid collect under VPM. VPM is a useful non-surgical approach to treating many ulcers in the elderly. Certain precautions must be taken to achieve optimum success in this population.     

A rat model of otitis media with effusion caused by eustachian tube obstruction with and without Streptococcus pneumoniae infection: methods and disease course.

OBJECTIVE: To describe the clinical and histopathologic progression of a rat model of otitis media with effusion caused by eustachian tube obstruction (ETO) with and without Streptococcus pneumoniae infection. METHODS: In 164 rats, the left, bony eustachian tube was approached via a ventral incision and obstructed with dental material. Then 108 rats were infected via an intrabullar injection with S pneumoniae. At 48 hours, the infected rats were treated for 5 days with ampicillin. All ears were evaluated by weekly otomicroscopy. On each of days 1, 2, 7, 21, 35, 56, and 112, four rats were killed for histologic study. All effusions were cultured for bacteria. RESULTS: Fourteen rats died of surgical complications; effusion resolved by 2 weeks in 9 rats. During the first few days, infected ears with ETO had bulging tympanic membranes, followed by tympanic membrane retraction, purulent effusion, and otorrhea (50%) over the next few weeks, whereas uninfected ears with ETO developed retraction and serous effusion during the same time frame. At later times, all ears with ETO presented with retraction and serous or serous-mucoid effusion. S pneumoniae was recovered only from the infected ears with ETO (days 1 and 2), with some colonization by nonpathogenic microorganisms observed equally in both groups of ears. Histology showed a typical acute inflammatory reaction in the challenged ears with ETO through day 14 and then a chronic inflammation for all ears with ETO. CONCLUSION: The experimental methods provoked reproducible pathologic signs similar to those for otitis media with effusion. Given the availability of rat-specific reagents, this model is well suited for studies of cytokine elaboration during disease pathogenesis.     

Histomorphometric evaluation of the effect of doxycycline on the healing of bone defects in experimental diabetes mellitus: a pilot study.

PURPOSE: Bone healing is impaired in diabetes mellitus, particularly due to increased collagen breakdown. Recently, tetracyclines have been used to treat experimental bone defects because they have anticollagenolytic properties, and positive effects on the healing process have been obtained. The objective of this study was to develop a computer-assisted histomorphometric technique to quantitatively determine the amount of regenerating bone within experimental bone defects in a diabetic rodent model. MATERIALS AND METHODS: This study examined the effects of systemic doxycycline administration on the healing of tibial bone defects in healthy albino rats and in experimentally induced diabetic rats. Twenty-four female albino rats were assigned to 4 groups: diabetic, diabetic plus doxycycline, control, or control plus doxycycline. The standardized bone defects were histomorphometrically examined 10 and 30 days postoperatively. Histomorphometric analysis of the amount of new bone formation was performed using the Zeiss Vision image analysis program KS 400 (Kontron Elektron GmbH, Eching, Germany). RESULTS: At 10 days of healing, the diabetic groups exhibited inferior healing compared with the control groups in terms of the amount of new bone formation within the defects. However, the effect of doxycycline administration to the diabetic and control groups was not statistically different. At 30 days of healing, there were no statistically significant differences between the amount of newly formed bone in any of the groups. CONCLUSIONS: This study found that doxycycline administration did not significantly alter the amount of new bone formation during the healing of bone defects in control and diabetic rats.     

Rate of nitrous oxide exchange across the middle ear mucosa in monkeys before and after blockage of the mastoid antrum.

OBJECTIVES: We tested the hypothesis that mastoid volume buffers the rate of change in middle ear pressure caused by transmucosal, inert gas exchange. STUDY DESIGN: Twelve monkeys were randomly assigned to group 1 or group 2. Right ears of group 1 had sham surgery and of group 2 had obstruction of the mastoid antrum. Before and after surgery, the time constant for transmucosal N(2)O exchange was estimated from N(2)O breathing experiments. The hypothesis predicts that the postoperative time constant measured for right ears of group 2 but not group 1 is greater than that measured before surgery. RESULTS: Mastoid antrum block significantly decreased right middle ear volume but did not affect the time constant for transmucosal N(2)O exchange. CONCLUSION: A mastoid gas-reserve function is not supported by the experimental data. SIGNIFICANCE: These results for monkeys and the theory developed to explain the effect of mastoid volume on transmucosal inert gas exchange suggest that the results for previous experiments in humans interpreted as evidencing a mastoid gas-reserve function are consistent with alternative explanations.