A very rare presentation of mitochondrial elongation factor Tu deficiency-TUFM mutation and literature review.

OBJECTIVES: The mitochondrial elongation factor Tu (EF-Tu), encoded by the TUFM gene, is a GTPase, which is part of the mitochondrial protein translation mechanism. If it is activated, it delivers the aminoacyl-tRNAs to the mitochondrial ribosome. Here, a patient was described with a homozygous missense variant in the TUFM [c.1016G>A (p.Arg339Gln)] gene. To date, only six patients have been reported with bi-allelic pathogenic variants in TUFM, leading to combined oxidative phosphorylation deficiency 4 (COXPD4) characterized by severe early-onset lactic acidosis, encephalopathy, and cardiomyopathy. CASE PRESENTATION: The patient presented here had the phenotypic features of TUFM-related disease, lactic acidosis, hypotonia, liver dysfunction, optic atrophy, and mild encephalopathy. CONCLUSIONS: We aimed to expand the clinical spectrum of pathogenic variants of TUFM.

Comparison between achilles tendon reinsertion and dorsal closing wedge calcaneal osteotomy for the treatment of insertional achilles tendinopathy: A meta-analysis.

BACKGROUND: The debridement and Achilles tendon reinsertion (DATR) have been the most common surgical approach for the treatment of Insertional Achilles Tendinopathy (IAT), while dorsal closing wedge calcaneal osteotomy (DCWCO) has recently gained popularity as an alternative surgical option. This study aimed to systematically review the published literature on both surgical techniques and compare their clinical outcomes and complication rates. METHODS: A systematic review was performed according to the PRISMA guidelines using Medline, Embase, and Scopus databases. The inclusion criteria encompassed clinical studies reporting functional outcomes and complications, with a minimum of 10 patients and at least 12 months of follow-up. RESULTS: Seven studies (n = 169) were included for the analysis of DATR, and eight studies (n = 227) were included for the analysis of open DCWCO. Both groups showed a similar improvement in AOFAS score. The overall complication rates were 16.6% in the DATR group and 9.2% in the DCWCO group, but the difference was not statistically significant. However, there was a significantly higher incidence of wound complications in the DATR group (10.1%, 95% C.I.: 4.7-15.6) compared to the DCWCO group (2.5%, 95% C.I.: 0.6-4.4) as the confidence intervals did not overlap. CONCLUSIONS: Clinical outcomes and overall complication rates of both techniques were comparable, although DCWCO had a lower incidence of wound complications. Further research should be focused on prospective studies comparing the two techniques to corroborate the current findings. LEVEL OF EVIDENCE: Level IV; meta-analysis.

Ultrastructure of coarse granules in the perivitelline space and association with ovulation induction protocols.

OBJECTIVE: To evaluate the origin and ultrastructure of the coarse granules in the perivitelline space (PVS) of oocytes of a group of couples attending assisted reproduction treatment. METHODS: The ultrastructure of five oocytes with coarse granulues in the PVS obtained from three patients were evaluated by transmission electron microscopy (TEM). The influence of the ovulation induction regimen on the formation of granules in the PVS of the oocytes of 214 couples and the developmental capacity of these oocytes presenting granules in the PVS was analyzed retrospectively. RESULTS: In TEM analysis, the microvilli structure was irregular, short, and loosely scattered through the oolemma in the oocytes presenting coarse granules in the PVS. Furthermore, dense lipid droplets were identified within the PVS and the surrounding cumulus cells. In retrospective analysis, the number of oocytes with coarse granules in the PVS was positively correlated with the duration of antagonist administration (r=0.23, p=0.013). Regardless of the type of granule, the presence of coarse or moderately coarse granules in the PVS was positively correlated with low-quality embryos on D3 (r=0.29, p=0.005) and the total number of arrested embryos up to D3 (r=0.33, p<0.001). Furthermore, the presence of coarse granules in the PVS severely exacerbated miscarriage rates. CONCLUSIONS: Our findings suggest that the presence of especially coarse granules in the PVS is correlated with the reduction of further embryonic developmental capacity in post-implantation stages of embryonic development, indicating a negative impact from aggressive ovulation induction protocols on developing oocytes.

Expression of pro-apoptotic and anti-apoptotic proteins in granulosa cells of women with diminished ovarian reserve.

PURPOSE: To evaluate the expressions of caspase-3 and cytochrome c and heat shock protein 70 (Hsp70) in granulosa cells (GCs) from women with normal ovarian reserve (NOR) and diminished ovarian reserve (DOR) undergoing intracytoplasmic sperm injection (ICSI). METHODS: GCs were collected from 117 infertile women during oocyte retrieval. Patients were classified into four groups as follows: DOR-COC score of 0, DOR-COC score of I, NOR-COC score of 0, and NOR-COC score of I. The caspase-3, cytochrome c, and Hsp70 analyses were performed immunohistochemically in GCs. The ICSI outcomes were evaluated prospectively. RESULTS: The clinical pregnancy and live birth rates were higher in DOR-COC score of I (15, 30.6%; 14, 38.9%) and NOR-COC score of I (19, 38.77%; 19, 52.7%) groups, compared with DOR-COC score of 0 (12, 24.4%; 3, 6.1%) and NOR-COC score of 0 (3, 6.1%; 0%) groups (p = 0.0001; 0.00002), respectively. Caspase-3 and cytochrome c expression levels were higher in DOR-COC score of 0 (23, 65.7%; 25, 71.4%) and NOR-COC score of 0 groups (19, 61.3%; 20, 64.5%), compared with DOR-COC score of I (8, 32%; 9, 36%) and NOR-COC score of I groups (7, 26.9%; 8, 30.8%) (p = 0.00297; p = 0.002), respectively. Lower expression levels of Hsp70 were found in DOR-COC score of 0 (11, 31.4%) and NOR-COC score of 0 groups (10, 32.3%), compared with DOR-COC score of I (16, 64%) and NOR-COC score of I groups (20, 76.9%) (p = 0.001), respectively. Hsp70 expression levels were positively correlated with the number of day 3 good-quality embryo and negatively correlated with estradiol levels in the DOR group. CONCLUSION: Our data suggest that COC score of 0 is associated with increased expression levels of apoptotic proteins, decreased expression levels of anti-apoptotic protein, and poor ICSI clinical outcomes in women with and without DOR.

Three-dimensional finite element analysis of the composite and compomer onlays in primary molars.

Resin onlay restoration is an esthetic alternative technique used for restoring extensively damaged primary molars. Understanding the behavior of materials under repeated functional stress and how the stress is transmitted to the remaining tooth structure is important. The aim of this study was to compare stresses in primary molars restored with indirect composite and compomer onlay. 3D frame models of the right mandibular and maxillary primary molars and the alveolar bone were created using computerized tomography images of a six-year-old girl. The enamel and dentine layers above the cement layer were unified to generate onlay restoration, and composite and compomer were used as restorative materials. The vertical occlusal load (100 N) was applied to the teeth in the occlusal contact areas. The von Mises stress distributions and normal stress distributions of the y-axis (parallel to the long axis of tooth) were evaluated. The occlusal stress is transmitted to the cervical part of healthy teeth by spreading it through the enamel layer. The composite and compomer restorative materials exhibited similar stress distribution patterns. An indirect technique creates a structure similar to the original morphological form, and it allows restorations to distribute high occlusal stresses and to minimize possible breakages.

In vitro evaluation of onlay restorations on primary teeth.

PURPOSE: Many novel materials have been developed such as composite resin, ceramic, zircon or metal-supported ceramic for use in aesthetic restoration of primary teeth and permanent teeth with extensive crown damage. The aim of the present study was to compare microtensile bond strengths on materials using the microtensile bond strength test. MATERIALS AND METHODS: The microtensile bond strength on the primary tooth dentin was measured on extracted primary teeth using an indirect method and fracture patterns were evaluated. RESULTS: The analysis of bond strengths using the Mann-Whitney U-test did not show significant difference between the rank averages of the compomer and composite resin (p = 0.741). The dentin sections, from which test samples were obtained, contributed to the bond strength; dentin samples obtained just above the pulp had lower bond strength, and the difference was statistically significant (p = 0.005). The adhesive type fracture was the most prevalent fracture type for both materials. CONCLUSIONS: When the chemical, physiological, and micromorphological differences between primary and permanent teeth are taken into consideration, the success of the materials used for restorations can be different between primary and permanent teeth. Therefore, materials used in the dentistry must be evaluated separately for primary teeth.

Can onlay's be an alternative restoration for severely damaged primary teeth.

OBJECTIVE: The aim of this study was to evaluate indirect compomer and composite resin onlay restorations of severely damaged primary molars in vivo. MATERIALS AND METHODS: At the study, 48 restorations, in seven girls and ten boys totally 17 patients aged 4-8, was evaluated clinically with using USPHS criteria for 15 months. RESULTS: The study results revealed that the clinical success rate of compomer and composite onlay restorations was 79% and 96%, respectively. No significant differences were found statistically between the materials. CONCLUSIONS: In the children severely damaged primary molars, onlays are usually worked with an indirect technique in clinics. One of the advantages of indirect technique is being most similar to its original form morphologically.