SORDD: mutation frequency and phenotype in predominantly axonal Charcot-Marie-Tooth disease of undefined genetic cause.

Pathogenic, biallelic variants in SORD were identified in 2020 as a novel cause for autosomal-recessive Charcot-Marie-Tooth disease (CMT) type 2, an inherited neuropathy. SORD codes for the enzyme sorbitol dehydrogenase. Loss of this enzyme's activity leads to an increase of sorbitol in serum. We retrospectively screened 166 patients with axonal neuropathy (predominantly CMT type 2, but including intermediate form of CMT and distal hereditary motor neuropathy (dHMN)) without identified genetic etiology for SORD mutations at a single large German neuromuscular center. Clinical and electrophysiology exam findings were analyzed for genotype-phenotype correlation. Five patients of the total cohort of 166 patients harbored pathogenic variants in SORD (3%). The homozygous frameshift variant c.757delG (p.Ala253Glnfs*27) was the most common (4/5). One additional case carried this variant on one allele only and an additional pathogenic missense variant c.458C > A (p.Ala153Asp) on the other allele. Age of onset ranged from early infancy to mid-twenties, and phenotypes comprised axonal CMT (4) and dHMN (1). Our findings strengthen the importance of screening for pathogenic variants in SORD, especially in patients with genetically unconfirmed axonal neuropathy, especially CMT type 2 and dHMN.

Photoluminescence and thermoluminescence properties of pure and rare-earth-doped ZrO2 prepared by Pechini-type sol-gel.

In this article, photoluminescence (PL) and thermoluminescence (TL) properties of ZrO2 , ZrO2 :Dy3+ , ZrO2 :Dy3+ -Gd3+ , ZrO2 :Dy3+ -Yb3+ , ZrO2 :Dy3+ -Er3+ , and ZrO2 :Dy3+ -Sm3+ phosphors synthesized by the Pechini method were investigated. The crystal structure, thermal properties, morphology, PL and TL properties were investigated using X-ray powder diffraction (XRD), differential thermal analysis/thermogravimetric analysis (DTA/TGA), scanning electron microscopy (SEM), PL and TL, respectively. The room temperature emission bands corresponding to 4 F9/2  â†’ 6 HJ (J = 9/2, 11/2, 13/2 and 15/2) transitions of Dy3+ ions were measured. The phosphors were analysed using Tm -TSTOP , variable dose, and computerized glow curve fitting methods. Reusability, dose-response, and fading characteristics were investigated. The phosphors have a natural TL emission that vanished by heating treatment. Moreover, new peaks with similar properties to the natural emissions were observed after high-dose irradiation and long-term fading experiments. The glow curves of the phosphors have 13 individual peaks and many low- and high-temperature satellite peaks. The origin of the peaks is ZrO2 host material and doping with rare-earth ions (Gd3+ , Dy3+ , Yb3+ , Er3+ and Sm3+ ) does not lead to a new glow peak. The dopants cause drastic changes in individual peak intensities of ZrO2 .The initial fading rates of all the phosphors are relatively fast, but they slow down as time goes on.

Effect of 2-ethylhexyl salicylate incorporation on the color stability of different maxillofacial silicone elastomers after outdoor weathering.

STATEMENT OF PROBLEM: Silicone elastomers are considered the most favorable materials for the prosthetic rehabilitation of facial defects. However, color change, because of the ultraviolet (UV) light, limits the life of facial prostheses. The addition of 2-ethylhexyl salicylate as a UV-protective may improve the color stability of different maxillofacial silicone elastomers. PURPOSE: The purpose of this in vitro study was to evaluate the effect of 2-ethylhexyl salicylate on the color stability of 3 different maxillofacial silicone elastomers after outdoor weathering. MATERIAL AND METHODS: Three different ratios of UV-protective 2-ethylhexyl salicylate (UV-ES) were incorporated into 3 different types of maxillofacial silicones (M511, TechSil S25, and A-2000) in 1%, 2%, and 5% ratios, and a control group for each silicone was generated. A total of 120 Ø15×2-mm disk-shaped specimens were prepared from 3 different silicone elastomers according to the 4 different UV-ES ratio groups (n=10). The specimens were subjected to outdoor weathering in Ankara, Türkiye, from June 2021 to June 2022. Color differences in the specimens were measured at 3 months and 1 year of weathering. The color change values (ΔE) were statistically analyzed by using repeated measures of 3-way ANOVA. The differences were compared by using the Tukey honest significant difference test (α=.05). RESULTS: No interaction was found among the factors (silicone type, UV-ES ratio, and aging) (P=.29). The highest ΔE values were found in TechSil S-25 (P<.001), while the results were not significantly different between the M511 and A2000 groups (P=.324) The higher ΔE values were found in the control group when compared with those of the UV-ES added group of each material, while the results were not significantly different among the 1%, 2%, and 5% groups (P>.05). CONCLUSIONS: Incorporating 2-ethylhexyl salicylate into the tested maxillofacial silicones reduced color change.

Central sensitization and its relationship with health profile in Behçet's disease.

OBJECTIVES: In this study, we aimed to evaluate the level of central sensitization (CS) and its relationship with health profile, including neuropathic pain and sleep quality in Behçet's disease (BD). METHOD: Eighty-eight patients with BD and 60 healthy controls (HCs) were included in the study between May 2018 and February 2019. Nottingham health profile (NHP), pain DETECT, Pittsburgh sleep quality index (PSQI) questionnaires and the central sensitization inventory (CSI) were administered to all participants. To evaluate the correlations of the NHP, PSQI, and PDQ scores with the CSI score, the CSI was modified for each questionnaire. The activity of BD was determined by the Behçet's disease current activity form (BDCAF). RESULTS: CSI scores were significantly higher in patients with BD than HCs (BD: 41.2 ± 21.1 vs HCs: 20.4 ± 16.9, p < .001). Clinical CS was detected in 69.3% of patients with BD and 28.3% of HCs (p < .001). Severe or extreme CS (CSI score ≥ 50) was present in 37.5% of patients with BD and 5.0% of HCs (p < .001). There were high correlations between the modified CSI scores and the NHP, PDQ and PSQI scores in patients with BD (R = 0.804; p < .001, Rho = 0.698; p < .001, and Rho = 0.734; p < .001, respectively). There was significant correlation between CSI and BDCAF scores (Rho= 0.470, p < .001). CONCLUSION: CS is more frequent and more severe in patients with BD than in HCs. There is a strong correlation between the severity of CS and poor health profile in patients with BD.

Photoluminescence and piezoelectric behaviour of Y2 Zr2 O7 pyrochlore-based multifunctional materials and the influence of Eu3+ and Sm3.

Y2 Zr2 O7 -doped with Eu3+ and Sm3+ phosphors were prepared for the first time as multifunctional smart materials using a solid-state reaction method at 1400o C. Thermal behaviour, crystal structure, surface morphology, and elemental analysis were characterized using thermogravimetric (TG) and differential thermal (DTA) analyses, X-ray diffraction (XRD) and scanning electron microscope equipped with energy-dispersive X-ray spectroscopy (SEM-EDX). Experimental results revealed that both phosphors have a pyrochlore structure with a cubic crystal system. Photoluminescence properties were also measured and red emission was observed from Y1.90 Eu0.10 Zr2 O7 and Y1.90 Sm0.10 Zr2 O7 phosphors. Dielectric constant, loss tangent, piezoelectric charge constant, and Curie temperature of all the samples were determined using an LCR-meter, d33 -meter, and TG/DTA. Eu doping in Y2 Zr2 O7 resulted in a high dielectric constant (9.61) and low loss tangent (1.67%) values, whereas high piezoelectric charge constant (0.68 pC/N) and high Curie temperature (820°C) could be obtained using Sm-doped Y2 Zr2 O7 .

Encapsulating propeller-like columnar liquid crystals with an aromatic outer shell: influence of phenoxy-terminated side chains on the phase behaviour of triphenylbenzenes.

Tailoring of phase transition temperatures of columnar liquid crystals by side chain variation is often associated with an undesired change in the mesophase type and/or geometry. To overcome this problem phenoxy-terminated side chains rather than alkyl side chains were grafted onto triphenylbenzenes, which resulted in reduced clearing points, while melting points were little affected. More importantly, helical columnar self-assembly was not compromised.

Thermoluminescence properties of La3+ , Gd3+ ,Dy3+ and Ho3+ co-doped MgAl2 Si2 O8 :Mn4.

Thermoluminescence properties of Mn4+ -doped and La3+ , Gd3+ , Dy3+ and Ho3+ co-doped MgAl2 Si2 O8 host phosphors were investigated in detailed and reported for the first time. The phosphors were exposed to ß- and α-irradiation and the glow curves appeared at 260-262 ± 2°C and 245-252 ± 2°C, respectively. Thermoluminescence analysis show that the main glow peaks actually consisted of three distinct peaks (P1 , P2 and P3 ). In addition, all the phosphors had a main peak, and many satellite peaks also appeared up to 200°C. Moreover, it was observed that La3+ , Gd3+ , Dy3+ and Ho3+ dopants in MgAl2 Si2 O8 Mn4+ phosphor can change the thermoluminescence peak intensities, but they did not cause any new glow peak. In addition, when α-irradiation was used, the glow peaks were shift to a lower temperature region. Kinetic parameters of P1 , P2 and P3 were calculated, and it was found that P1 and P3 had first-order kinetics and P2 had general-order kinetic parameters. In addition, it was found that when the easy and convenient annealing procedure was applied to the phosphorus, the thermoluminescence signal was measured as stable over many repetitions. The dose sensitivity, reproducibility and fading features of the powdered phosphors were investigated and computerized glow curve deconvolution analysis was also performed. Results showed that thermoluminescence properties of these materials were good but the fading reliabilities were poor and therefore the sintered or single crystal forms should be preferred for their better fading properties.

Independent localization of plasma membrane and chloroplast components during eyespot assembly.

Like many algae, Chlamydomonas reinhardtii is phototactic, using two anterior flagella to swim toward light optimal for photosynthesis. The flagella are responsive to signals initiated at the photosensory eyespot, which comprises photoreceptors in the plasma membrane and layers of pigment granules in the chloroplast. Phototaxis depends on placement of the eyespot at a specific asymmetric location relative to the flagella, basal bodies, and bundles of two or four highly acetylated microtubules, termed rootlets, which extend from the basal bodies toward the posterior of the cell. Previous work has shown that the eyespot is disassembled prior to cell division, and new eyespots are assembled in daughter cells adjacent to the nascent four-membered rootlet associated with the daughter basal body (D4), but the chronology of these assembly events has not been determined. Here we use immunofluorescence microscopy to follow assembly and acetylation of the D4 rootlet, localization of individual eyespot components in the plasma membrane or chloroplast envelope, and flagellar emergence during and immediately following cell division. We find that the D4 rootlet is assembled before the initiation of eyespot assembly, which occurs within the same time frame as rootlet acetylation and flagellar outgrowth. Photoreceptors in the plasma membrane are correctly localized in eyespot mutant cells lacking pigment granule layers, and chloroplast components of the eyespot assemble in mutant cells in which photoreceptor localization is retarded. The data suggest that plasma membrane and chloroplast components of the eyespot are independently responsive to a cytoskeletal positioning cue.

A note on parametric surfaces in Minkowski 3-space.

With the help of the Frenet frame of a given pseudo null curve, a family of parametric surfaces is expressed as a linear combination of this frame. The necessary and sufficient conditions are examined for that curve to be an isoparametric and asymptotic on the parametric surface. It is shown that there is not any cylindrical and developable ruled surface as a parametric surface. Also, some interesting examples are illustrated about these surfaces.

Evaluation of Radicular Dentin Thickness in Maxillary and Mandibular Central Incisor, Canine, and Premolar Teeth.

Background This study aimed to compare the radicular dentin thickness in single-rooted maxillary and mandibular anterior and premolar teeth by measuring on four different surfaces (buccal, lingual, mesial, and distal) at three different levels (apical, middle, and coronal). Methods A total of 150 single-rooted human anterior and premolar teeth were included in the present study. The teeth were sectioned at the cemento-enamel junction (CEJ; coronal), 4 mm away from the apex (apical), and the midpoint between these two distances (middle). First, the teeth were divided buccolingually into two parts, and the dentin thickness in the mesial/distal region was measured. Subsequently, both parts were divided again to measure the dentin thickness in the buccal/lingual region. All measurements were recorded, and statistical analysis was performed. Results Apical radicular dentin thickness was significantly less than CEJ (p < 0.001). The maxillary central incisor, maxillary, and mandibular canine exhibited the maximum radicular dentin thickness, whereas the mandibular premolars showed the minimum. Radicular dentin thicknesses on the lingual and buccal surfaces were significantly higher than those on other surfaces (p < 0.001). Conclusion The lowest radicular dentin thickness values were observed in the premolars, especially on mesial and distal surfaces. Considering these areas as danger zones and paying attention during dental procedures are essential to avoid possible complications.

In Vivo Confocal Microscopy and Anterior Segment Optical Coherence Tomography Findings of Patients with Iridocorneal Endothelial Syndrome

This case report aims to present the findings of in vivo confocal microscopy (IVCM) and anterior segment optical coherence tomography (AS-OCT) in three patients with iridocorneal endothelial (ICE) syndrome. Three female patients 37, 50, and 57 years of age presented with complaints of unilateral visual impairment and elevated intraocular pressure (IOP). Biomicroscopy revealed unilateral pupil irregularities and anterior synechiae, and gonioscopy demonstrated synechiae in the iridocorneal angle. IOP was within normal limits with medical treatment in two patients, while one patient had an IOP of 44 mmHg despite maximal antiglaucomatous treatment. IVCM revealed large, polymorphic, and hyperreflective cells in the corneal endothelial layer of the affected eyes and normal corneal epithelium, stroma, and endothelium in the fellow eyes. AS-OCT findings were normal in healthy eyes, while the affected eye showed synechiae in the iridocorneal angle and a hyperreflective, thickened endothelial layer. The patient with refractory glaucoma underwent trabeculectomy surgery with 5-fluorouracil. In conclusion, IVCM and AS-OCT allow a detailed examination of endothelial cell abnormalities and iridocorneal membranes in ICE syndrome, which is characterized by unilateral pupil and iris irregularities and anterior synechiae mainly in women.

Congenital Heart Defects and Outcome in a Large Cohort of Down Syndrome: A Single-Center Experience from Turkey.

OBJECTIVE: Congenital heart defects occur in approximately 50% of children with Down syndrome and they contribute considerably to morbidity and mortality. The aim of this study is to investigate the prevalence, classification, and survival of congenital heart defects in Down syndrome. MATERIALS AND METHODS: About 1731 Down syndrome patients who underwent echocardiography between 1986 and 2022 were evaluated. The median follow-up duration was 8.7 years (range 1-35.8 years). Congenital heart defect was grouped as cyanotic and acyanotic. RESULTS: Among the 1731 patients, 52.1% had congenital heart defects. Congenital heart defect was significantly more common in females than males. The most common cardiac defect was ventricular septal defect (35%), followed by atrial septal defect (31.8%), atrioventricular septal defect (23.4%), tetralogy of Fallot (5%), and patent ductus arteriosus (3.6%). In the follow-up, 43.2% of atrial septal defect, 17.8% of ventricular septal defect, and a total of 20% of congenital heart defects were closed spontaneously. About 34.4% of congenital heart defect was corrected by cardiac surgery/intervention. Five-year survival rate was 97.4% in patients without congenital heart defects, whereas it was 95.6% in mild congenital heart defects and 86.1% in moderate to severe congenital heart defects. There was no relationship between consanguinity, parental age, maternal disease, folic acid supplementation before/during pregnancy, gestational age, birth weight, and congenital heart defects. Neuromotor development was similar in patients with and without congenital heart defects. CONCLUSION: We demonstrated that almost half of the patients had congenital heart defects; ventricular septal defect was the most common congenital heart defect type. This study is valuable in terms of the largest single-center study describing the classification, prognostic factors, and survival of Down syndrome patients with congenital heart defect from Turkey.

Studying Tunicata WBR Using Botrylloides anceps.

Tunicates are marine filter-feeding invertebrates that can be found worldwide and which are the closest phylogenetic group to the vertebrates (Craniata). Of particular interest, colonial tunicates are the only known chordates that can undergo Whole-Body Regeneration (WBR) via vascular budding. In Botrylloides anceps, a fully functional adult regenerates from a fragment of the vascular system in around 2 weeks after amputation. In this chapter, we present protocols to collect B. anceps colonies, confirm their species, breed them in the lab, monitor WBR and perform histological staining on cryosections.

Poly(L-lactic acid)/poly(ethylene oxide) based composite electrospun fibers loaded with magnesium-aluminum layered double hydroxide nanoparticles.

Two types of MgAl layered double hydroxide nanoparticles, MgAl LDH, at Mg:Al ratio of 2:1 and 3:1were prepared and used as inorganic fillers to improve the mechanical properties of poly(lactic acid)/poly(ethylene oxide) (PLA/PEO) electrospun composite fibers. Their detailed structural characterization was performed using X-ray diffraction (XRD) and transmission electron spectroscopy (TEM) techniques. Spectroscopic, thermal, mechanical, and morphological properties of the electrospun composite fibers, and cell proliferation on their surface, were examined. XRD and TEM analyses showed that the LDH nanoparticles were 50 nm in size and the Mg:Al ratio did not affect the average spacing between crystal layers. Fourier transform infrared (FTIR) and thermal analyses (TA) revealed the compatibility of the filler and the polymer matrix. The nanoparticles considerably improved the mechanical properties of the electrospun mats. The tensile strength and elongation at break values of the composite samples increased from 0.22 MPA to 0.40 MPa and 12.2 % to 45.66 %, respectively, resulting from the interaction between LDH and the polymer matrix. Scanning electron microscopy (SEM) and MTT analyses demonstrated that the electrospun composite fibers supported the SaOS-2 cells attachment and proliferation on the fiber surfaces, along with their suitable cytocompatibility.

The Frequency of Fibromyalgia and its Relationship With Disease Activity in Female Patients With Behçet's Disease: A Cross Sectional Study.

OBJECTIVES: This study aims to determine the incidence of fibromyalgia (FM) in female patients with Behçet's disease (BD) and to investigate whether disease activity changes in the presence of FM in female patients with BD. PATIENTS AND METHODS: This cross-sectional study included 72 female patients with BD (mean age 39.7±10.5 years; range, 22 to 74 years) between June 2018 and February 2019. The frequency of FM was evaluated according to the American College of Rheumatology alternative criteria. Active clinical features and BD activity were evaluated with the Behçet's disease activity form (BDCAF). RESULTS: The prevalence of FM was 29.2% in the BD patients. BD clinical activity index, patients' perceptions of disease activity and clinicians' overall perceptions of disease activity scores were significantly higher in BD patients with FM (p=0.003, p<0.001 and p=0.025, respectively). The active clinical features of BD were not different between the groups except for genital ulcer. The prevalence of active genital ulcers was higher in BD patients with FM than in BD patients without FM (38.1% vs. 13.7%, respectively). CONCLUSION: Disease activity is higher in female BD patients with FM than those without FM. High disease activity in female BD patients with FM may be associated with the presence of genital ulcers.

Treatment of cluster headache attacks with less than 6 mg subcutaneous sumatriptan.

BACKGROUND: Subcutaneous (SQ) sumatriptan 6 mg is effective in the treatment of acute cluster headache attacks. However, patients sometimes benefit from a dose less than 6 mg. OBJECTIVE: Therefore, we designed a prospective open study to evaluate how many patients benefit from a dose less than 6 mg SQ sumatriptan. METHODS: We enrolled 81 consecutive patients with cluster headache and recorded their use of SQ sumatriptan and oxygen. Patients regularly using SQ sumatriptan 6 mg were advised to treat attacks with doses less than 6 mg and with oxygen. Efficacy and side effects of the different treatment options (6 mg, 3 mg, 2 mg, and oxygen) were evaluated. RESULTS: As a result, 74% of the patients using SQ sumatriptan 3 mg showed efficacy and 89% reported efficacy after 2 mg. Seventy-nine percent reported side effects after the use of SQ sumatriptan 6 mg (29% severe side effects). After the use of 2 mg SQ sumatriptan, only 50% of the patients reported side effects, none of these were classified as severe. Patients' preference was 41% for 6 mg sumatriptan, 28% for doses less than 6 mg, and 31% for oxygen. CONCLUSIONS: We conclude that sumatriptan in doses less than 6 mg can be effective in the acute treatment of cluster headache attacks. We suggest that patients should have experience in their individual efficacy of sumatriptan doses less than 6 mg.

Carotid artery dissection in ergotamine abuse.

The case of a 65-year-old male migraine patient with spontaneous internal carotid artery dissection is presented. He had been abusing ergotamine compounds for several years on at least 15 days per month. A possible association between arterial dissection and ergotamine abuse is discussed.