A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation

Metabolic Brain Disease - Gaucher disease type 2 is the most progressive and the rarest form of Gaucher disease, defined as the acute neuronopathic type. We presented two GD2 patients who died...     

The utility of cervical elastosonography in prediction of cervical insufficiency: cervical elastosonography and cervical insufficiency

Objective: To evaluate the utility of cervical elastosonography (ES) in prediction of cervical insufficiency (CI).

Methods: A total of 40 women, of which 20 who had previously received the diagnosis of CI and 20 healty women were included in the study. None of the women were pregnant. All subjects underwent sonographic evaluation including cervical length measurement and ES of uterine cervix. Adjacent muscular tissue was the reference point for elastosonography evaluation. Tissue strain ratio values were obtained from all the patients.

Results: The area around the internal cervical os of the group with CI was found to be significantly softer as compared to the control group (higher SR rate, p?<?0.05). Furthermore, the outer parts of the cervix (sites A and D) were also found harder in the group that had CI (lower SR rate, p?<?0.05).

Conclusions: According to our knowledge, this is preliminary study to evaluate the predictive value of cervical ES in CI and we concluded that ES can be used as reliable method to determine CI but it is necessary to be studied in different cohort groups.     

Increased neopterin level and chitotriosidase activity in pregnant women with threatened preterm labor

Objectives: To determine whether the cellular inflammatory markers of activated macrophages, neopterin (NEO), chitotriosidase activity and the acute-phase inflammatory marker C-reactive protein (CRP) are elevated in pregnancy with threatened preterm labor (TPL).

Methods: Thirty-two pregnant women with TPL and 32 women with uncomplicated pregnancy (UP) were included this study. The primary aim was to compare the NEO, chitotriosidase activity and CRP levels between women with TPL and women with UP.

Results: NEO levels were all significantly elevated in patients with TPL compared to UP (median 25–75%; 9.61 [8.47–12.29] versus 4.46 [3.59–6.92], respectively; p?p?=?0.036). However, CRP levels were not different in women with TPL compared to UP (p?=?0.573). Furthermore, a significant moderate negative correlation was found between delivery week and NEO level (r?=??0.557, p?=?0.001). However, a significant correlation was not seen between delivery week and chitotriosidase activity (r?=??0.042, p?=?0.741).

Conclusions: Inflammatory markers such as NEO and chitotriosidase activity, which are markers of macrophages, are more elevated in pregnant women with TPL than in women with UP. These data suggest that there are striking increases in inflammation and cellular immune activation in TPL.     

Quantitative assessment of muscle stiffness with acoustic radiation force impulse elastography after botulinum toxin A injection in children with cerebral palsy

Purpose

Our objective in this study was to assess the changes in medial gastrocnemius muscle (GCM) stiffness after botulinum toxin A (BTA) injection in children with cerebral palsy (CP) by using acoustic radiation force impulse (ARFI) elastography and to research the usability of this technique in clinical practice.

Materials and methods

Twenty-four spastic lower extremities of 12 children with CP were assessed. BTA injection treatment was applied to the medial GCM. Muscle stiffness was measured with the ARFI technique before the procedure and a month after the procedure. The patients were assessed with the modified Ashworth scale (MAS) in the physiotherapy department at about the same time. Shear wave velocity (SWV) values and MAS scores before and after the treatment were compared.

Results

Mean SWV values were measured as 3.20 ± 0.14 m/s before BTA and as 2.45 ± 0.21 m/s after BTA, and the difference between them was found to be statistically significant (p < 0.001). Mean MAS score (2.33 ± 0.70) after BTA decreased significantly when compared to the score before BTA (2.96 ± 0.62) (p = 0.001). SWV values positively correlated with MAS scores (ρ = 0.578, p = 0.003). The interobserver agreement expressed as interclass correlation coefficient (ICC) was 0.65 (95% CI 0.33–0.84, p < 0.001).

Conclusion

ARFI elastography for identifying structural changes that occur in the spastic muscle after BTA injection in children with CP can yield more valuable information with combined use of MAS.

     

Compliance With Dyslipidemia Guidelines in Daily Practice: How Effective Is Cardiovascular Risk Prevention?

Purpose

Cardiovascular disease (CVD) due to atherosclerosis is the leading cause of early mortality and morbidity. The current European guidelines on CVD prevention in clinical practice recommend the use of the Systematic Coronary Risk Estimation (SCORE) system. The current American Heart Association guidelines recommend the use of the new pooled cohort risk assessment equations to estimate the 10-year atherosclerotic CVD risk. The purpose of this article was to investigate the compliance of dyslipidemia guidelines in daily practice in patients with dyslipidemia or who have risk factors for CVD.

The relationship between serum trace element levels and clinical parameters in patients with fibromyalgia

We examined the association between serum trace elements and clinical findings such as number of sensitive tender points, severity of fatigue and functional status in patients with fibromyalgia (FM). Thirty-two patients diagnosed as having FM according to the ACR 1990 criteria and 32 normal healthy controls (NHC) were included in this study. The demographic data, disease duration, number of tender points and accompanying symptoms (fatigue, sleep disorders, headache, paresthesia, irritable bowel syndrome, sicca symptoms, Raynaud's phenomena) of the patients were noted. Visual analog scale (10 cm) was implemented to estimate daily severity of pain and fatigue. Fibromyalgia impact questionnaire was used for functional assessment. Serum selenium (mug/dL) and serum zinc (mug/dL) levels were measured by atomic absorption spectrometer. Serum magnesium (mmol/L) level was measured by the original kits of Abbott Aeroset auto-analyzer. The mean age of patients in FM group and NHC were calculated as 42.9 (SD = 7.7) years and 41.3 (SD = 9.7) years, respectively. Serum levels of zinc (P = 0.001) and magnesium (P = 0.002) were significantly decreased by FM groups, whereas there was no considerable difference with selenium levels of both groups (P > 0.05). Association between serum zinc level and number of tender points (P = 0.008) and that between fatigue and magnesium level (P = 0.003) was found as meaningful. According to the results of this study, it was asserted that serum magnesium and zinc levels may play an important role in the pathophysiology of FM.     

Melatonin protects against gentamicin-induced nephrotoxicity in rats

Acute renal failure is a major complication of gentamicin (GEN), which is widely used in the treatment of gram-negative infections. A large body of in vitro and in vivo evidence indicates that reactive oxygen metabolites (or free radicals) are important mediators of gentamicin nephrotoxicity. In this study we investigated the role of free radicals in gentamicin-induced nephrotoxicity and whether melatonin, a potent antioxidant could prevent it. For this purpose female Sprague-Dawley rats were given intraperitoneally either gentamicin sulphate (40 mg/kg), melatonin (10 mg/kg), gentamicin plus melatonin or vehicle (control) twice daily for 14 days. The rats were decapitated on the 15th day and kidneys were removed. Blood urea nitrogen (BUN) and creatinine levels were measured in the blood and malondialdehyde (MDA) and glutathione (GSH) levels, protein oxidation (PO) and myeloperoxidase (MPO) activity were determined in the renal tissue. Gentamicin was observed to cause a severe nephrotoxicity which was evidenced by an elevation of BUN and creatinine levels. The significant decrease in GSH and increases in MDA levels, PO and MPO activity indicated that GEN-induced tissue injury was mediated through oxidative reactions. On the other hand simultaneous melatonin administration protected kidney tissue against the oxidative damage and the nephrotoxic effect caused by GEN treatment.     

Comparison of Pelvic Floor Muscle Training With Connective Tissue Massage to Pelvic Floor Muscle Training Alone in Women With Overactive Bladder: A Randomized Controlled Study

ObjectiveThe purpose of this study was to compare the effects of a 6-week program of pelvic floor muscle training (PFMT) plus connective tissue massage (CTM) to PFMT alone in women with overactive bladder (OAB) symptoms on those symptoms, pelvic floor muscle strength, and quality of life.MethodsThirty-four participants were randomly divided into PFMT+CTM (n = 17) and PFMT (n = 17) groups. PFMT was applied every day and CTM was applied 3 days a week for 6 weeks. Before treatment, at week 3, and after treatment (week 6), we assessed pelvic floor muscle strength (with a perineometer), bladder symptoms (with a urine diary), OAB symptom severity (with the 8-item Overactive Bladder Questionnaire [OAB-V8]), urgency (with the Patient Perception of Intensity of Urgency Scale [PPIUS]), and quality of life (with King's Health Questionnaire [KHQ]). The Mann–Whitney U test, χ² test, Friedman test, and Dunn multiple comparison test were used for analysis.ResultsIn both groups, pelvic floor muscle strength increased, whereas OAB symptoms and PPIUS and KHQ scores decreased after treatment (P < .05). Although the OAB-V8, PPIUS, and KHQ scores decreased at week 3, frequency, OAB-V8, and PPIUS scores, in addition to some parameters of the KHQ, decreased after treatment in the PFMT+CTM group compared to the PFMT group (P < .05).ConclusionCompared to PFMT alone, PFMT+CTM achieved superior outcomes in reducing OAB symptoms in the early and late periods.