Quality of life assessments with SF 36 in different musculoskeletal diseases

The aim of this study is to evaluate comparatively the life quality of patients with knee osteoarthritis (KO), shoulder impingement syndrome(SIS), fibromialgia(FM), or osteoporosis(OP) using SF 36 and establish the impact of these diseases on quality of life (QoL). A total of 193 patients with one of the above-mentioned different diagnoses completed SF 36 scale. The diseases were compared to each other with SF 36 subgroups scores. There were significant differences among patients with KO and SIS,SIS and FM with respect to all SF 36 subgroups scores. According to these assessments, QoL of KO and FM patients was worst than that of SIS. The QoL scores of KO patients were worse than those of FM patients considering the physical function, while QoL scores of FM patients were lower than those of KO patients with respect to their general well-being. Scores of physical function and pain in KO patients were lower than those of OP patients. In domains of social functioning, emotional role, energy, pain, and general health condition QoL of FM patients was worse than that of OP patients. Quality of life of SIS patients was less affected than the patients of the other disease groups. In spite of their young age, FM patients appear to be the group with the worst quality of life scores.     

Is oxidative stress related to childhood urolithiasis?

Background

Urolithiasis is a common condition in pediatric populations in Turkey. The role of oxidative stress in renal stone formation in pediatric patients has not been reported to date. The aim of this study was to assess oxidative stress in childhood urolithiasis.

Methods

Seventy-four children diagnosed with urolithiasis and 72 healthy control subjects were enrolled in the study. Kidney stone formers were evaluated by analysis of metabolic conditions related to urolithiasis, such as hypercalciuria, hyperoxaluria, hypocitraturia and hyperuricosuria. Urine total antioxidant status (TAS), and total oxidant status (TOS) were measured, and oxidative stress index (OSI) was calculated as an indicator of the degree of oxidative stress.

Results

Among the stone formers, metabolic analyses revealed that 30 % had hypercalciuria, 45 % had hypocitraturia, 6 % had hyperoxaluria and 40 % had hyperuricosuria. Elevated levels of the renal tubular damage marker urinary N-acetyl- beta-d-glucosaminidase (NAG) was elevated in 25 % of the patient group, but microalbuminuria was not detected. Total oxidant status and total antioxidant status were significantly higher in stone formers than in the controls (p?=?0.023 and 0.004, respectively). In addition, urinary NAG was significantly correlated with TOS (r?=?0.427, p?=?0.019).

Conclusions

The results of this study show that oxidative stress may play an important role in the pathogenesis of pediatric stone formers.     

Clinical Heterogeneity of Immunodysregulation,Polyendocrinopathy, Enteropathy,X-linked: Pulmonary Involvement as a Non-Classical Disease Manifestation

Purpose

IPEX (Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked) is a rare X-linked recessive life-threatening disorder characterized by autoimmunity and early death. Pulmonary complication related with IPEX has not been elucidated exactly. Here, we report 4 IPEX patients, 3 of which died from severe pulmonary disease.

Methods

Clinical data and laboratory findings including autoantibodies, immunoglobulin levels as well as number of T, B and NK cells were evaluated. FOXP3 expression and T reg activity were analyzed. The FOXP3 gene was sequenced and RNA analysis was performed.

Results

Patient I (PI) presented with nephrotic syndrome at 3 years of age and then developed autoimmune hepatitis without eczema, enteropathy or high IgE and died at 9 years of age due to acute respiratory distress syndrome (ARDS). Two cousins of PI had the same hypomorphic splice site mutation leading to a deletion of 27 amino acids, but normal FOXP3 protein expression and normal suppressive capacity of T reg in a proliferation inhibition assay. However, they exhibited typical symptoms such as eczema, diabetes and enteropathy with eosinophilia at early age (PII, PIII) and were transplanted in infancy. One of them had severe respiratory distress right after birth (PIII). Patient IV from another family presented with chronic diarrhea without autoimmune manifestations and died due to ARDS.

Conclusion

Lung disease related to IPEX syndrome has not been reported before and this entity could be a critical factor in disease outcome.     

A qualitative study of the operating room experience of patients who underwent surgery under spinal anesthesia: “It was like an adventure”

This study aimed to explore the experiences of the people who underwent orthopedic surgery under spinal anesthesia and to report their feelings and thoughts. The study was carried out using a qualitative approach. Twenty‐one patients were interviewed who underwent orthopedic surgery on the first or second postoperative day. Content analysis was performed after the collection of raw data. NVIVO 12 Pro software was used for data analysis. The frequency count (f) and participant codes (P) were used for the presentation of the findings. The themes and frequency counts obtained by analyzing the interviews with the patients were as follows: “Time passed like watching a movie” (f = 213), “Like an adventure” (f = 587), and “See, feel, look” (f = 405). Five of 21 participants (23.8%) stated that they would not recommend spinal anesthesia. The findings generally indicated the anxiety caused by the unknown, fear in the preanesthetic period, operation experienced like an adventure, and a process generally completed with satisfaction.     

Paraurethral cysts in female newborns: role of maternal estrogens

Paraurethral or Skene's duct cyst is a rare cause of introital mass in neonates. We report two female newborn cases with paraurethral cysts associated with vaginal bleeding and breast enlargement. These associations raise the question of whether maternal estrogens play a role in the development of paraurethral cysts.     

Increased Circulating Copeptin Levels Are Associated with Vaso-Occlusive Crisis and Right Ventricular Dysfunction in Sickle Cell Anemia

ObjectiveVaso-occlusive crisis (VOC) is a common clinical manifestation of sickle cell anemia (SCA) and is associated with increased proinflammatory mediators. Copeptin is the C-terminal part of the prohormone for provasopressin and seems clinically relevant in various clinical conditions. Right ventricular (RV) dysfunction significantly appears in SCA patients due to pulmonary hypertension. This study aimed to investigate the association of copeptin levels in VOC patients and evaluate RV dysfunction.Materials and MethodsA total of 108 patients were enrolled in the study. Twenty-eight SCA patients in steady state (30.2 ± 0.9 years), 25 SCA patients in VOC (36.8 ± 11.8 years), and 55 healthy individuals (31.9 ± 9.4 years) with HbAA genotype were included. Clinical, echocardiographic, and laboratory data were recorded. ELISA was used for the determination of serum levels of copeptin.ResultsVOC patients had significantly higher copeptin level compared both with controls and SCA subjects in steady state (22.6 ± 13.0 vs. 11.3 ± 5.7 pmol/L, 22.6 ± 13.0 vs. 12.4 ± 5.8 pmol/L, p = 0.009 for both). Additionally, the copeptin level was significantly higher in SCA patients with RV dysfunction than those without RV dysfunction (23.2 ± 12.2 vs. 15.3 ± 9.5 pmol/L, p = 0.024). Multiple logistic regression analysis revealed that high-sensitivity C-reactive protein and copeptin levels were found to be associated with VOC.ConclusionThis study showed that copeptin and hs-CRP levels were increased in patients with VOC, and it was found that RV dysfunction was more common in SCA patients with VOC than in the control group. Copeptin can be considered for use as a potential biomarker in predicting VOC crisis in SCA patients and in the early detection of patients with SCA who have the potential to develop RV dysfunction.     

Corrective Effect of Verbascoside on Histomorphological Differences and Oxidative Stress in Colon Mucosa of Rats in Which Colon Ischemia–Reperfusion Injury was Induced

BackgroundThis study aims to show the corrective effect of verbascoside on histomorphological and biochemical differences in the colon mucosa of rats in which colon ischemia–reperfusion (I/R) injury was induced.Methods: Fifty Sprague Dawley male rats were divided into 5 groups, of control, sham, ischemia (I), I/R, and I/R+verbascoside.Ischemia and reperfusion were applied to the suitable groups for 30 minutes and 120 minutes respectively, and 10 mg/kg verbascoside was administered intraperitoneally. Histomorphological assessment was done in the colon tissues obtained, and the goblet cells were assessed using the Alcian blue method. Proliferating cell nuclear antigen (PCNA), TUNEL, and hypoxia-induced factor 1 (HIF-1α) assays were used to assess oxidative stress with the immunohistochemical method. Malondialdehyde (MDA), superoxide dismutase (SOD), glutathione peroxidase (GSH-Px), total antioxidant status (TAS), total oxidant status (TOS), oxidative stress index (OSI), and total thiol (TT) levels were checked, for a biochemical analysis of oxidative stress.Results: Compared with the I/R group, histomorphological differences were seen to be corrected in colon epithelium in the I/R+verbascoside group. The goblet cell number increased and cell proliferation was increased, as seen with the PCNA assay; and apoptosis was decreased, as seen with the TUNEL assay. HIF-1α expression also decreased in the drug group. In the drug group, SOD, GSH-Px, TAS, and TT levels increased, but TOS, OSI, and MDA levels decreased.Conclusion: It was seen that verbascoside had a corrective effect on histomorphological and biochemical differences caused by I/R injury.     

EFI region 8 Balkan external proficiency testing for HLA typing: Results of 15 years

Istanbul Medical Faculty, Department of Medical Biology, as the first EFI‐accredited HLA laboratory in Turkey since 1999 has been organizing both national and international quality control tests for HLA typing under the banner of the “Balkan external proficiency testing (BEPT)” encompassing countries from EFI regions 8. The first round of BEPT in 2004 was organized for low‐resolution HLA‐A,‐B typing by molecular methods and 12 centres participated in the exercise. In 2005, low‐resolution HLA‐DR typing was added, and in 2007, low‐resolution HLA‐C and DQ typing were added to the exercise and 28 centres participated. In 2015, high‐resolution (four digits or higher typing) HLA‐A,‐B,‐C,‐DR and –DQ typing added to the exercise and 40 centres participated. In the last 2 years, 2017 and 2018, the number of participating centres increased to 48 and 52, respectively. When the distribution of low‐resolution typing methods applied in the exercises were investigated, it was found that 82% of the centres in the first round of BEPT in 2004 used PCR‐SSP, whereas in the last round in 2018, 26% of the centres preferred SSP, while the rest used SSO (50%) or SSP and SSO (24%) methods. Methods for high‐resolution typing were SBT (41%), NGS (18%), SSO (18%), SSP (6%), SBT + NGS (6%) and SBT + SSP (11%). In 15th trial for BEPT, nomenclature mistake rate was 12%, and erroneous result rate was 6% for HLA samples. The most common mistakes in the exercises were nomenclature mistakes. The EFI Standards Version 7.0 is stated "HLA type can be reported using a hyphen if homozygosity is not proven by family studies." In order to provide standard results among HLA laboratories and since accurate HLA typing leads to significant increase of graft and patient survival, quality control exercises should be performed in all HLA‐based tests periodically.