An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene

Mutations of the protein O-mannosyltransferase (POMT1) gene affect glycosylation of alpha-dystroglycan, leading to Walker-Warburg syndrome, a lethal disorder in early life with severe congenital muscular dystrophy, and brain and eye malformations. Recently, we described a novel form of recessive limb girdle muscular dystrophy with mild mental retardation, associated with an abnormal alpha-dystroglycan pattern in the muscle, suggesting a glycosylation defect. Here, we present evidence that this distinct phenotype results from a common mutation (A200P) in the POMT1 gene. Our findings further expand the phenotype of glycosylation disorders linked to POMT1 mutations. Furthermore, the A200P mutation is part of a conserved core haplotype, indicating an ancestral founder mutation.     

Dorsal metacarpal island flap in syndactyly treatment

Web space reconstruction is an important component of syndactyly treatment. There are several methods for a skin graft-free reconstruction. Previously, the dorsal metacarpal island flap based on a direct cutaneous branch of the dorsal metacarpal artery has been used as an island V-Y advancement for web defects in syndactyly. In this study, dorsal metacarpal artery flap was raised similarly as an island but was used instead as a transposition flap in a series of 19 web defects. Early results of a median (range) follow-up of 3 (1-5) years reveal neither recurrence of the deformity nor web creeping. Such utilization of the flap enables a better use of the skin territory proximal to the pedicle and a more comfortable reconstruction of the web space.     

The influence of different maternal pushing positions on birth outcomes at the second stage of labor in nulliparous women

Objectives: To assess the effects on neonatal and maternal outcomes of different pushing positions during the second stage of labor in nulliparous women.

Methods: This prospective study included 102 healthy, pregnant, nulliparous women who were randomly allocated to either of two positions: a squatting using bars (n?=?51), or a supine position modified to 45 degree of semi-fowler (n?=?51) during the second stage of labor. Duration of the second stage of labor, maternal pain, postpartum blood loss, abnormal fetal heart rate patterns that required intervention, and newborn outcomes were compared between the two groups.

Results: The trial showed that women who adopted the squatting position using bars experienced a significant reduction in the duration of the second stage of labor; they were less likely to be induced, and their Visual Analog Scale score was lower than those who were allocated the supine position modified to 45 degree of semi-fowler during second stage of labor (p?Conclusions: In healthy nulliparous women, adopting a squatting position using bars was associated with a shorter second stage of labor, lower Visual Analog Scale score, more satisfaction, and a reduction in oxytocin requirements compared with adopting the supine position. For Turkish women, the squatting position is easy to adopt as it is more appropriate in terms of Turkish social habits and traditions.     

Comparison of the morphokinetic parameters of embryos according to ovarian reserve in IVF cycles

The aim of this study is to evaluate the impact of ovarian reserve and age of women on early morphokinetic parameters of embryos with a time-lapse monitoring system. In total, 197 infertile couples with poor ovarian reserve (Group 1, n?=?41), normal ovarian reserve (Group 2, n?=?59), or polycystic ovaries (Group 3, n?=?97) were included. The time from insemination to the following events were analyzed: pronuclear fading (Pnf) and cleavage to 2, 3, 4 and 5 cells. The optimal ranges for morphokinetic parameters of t5, s2 and cc2 in each group were also evaluated. In total, 1144 embryos were evaluated. Morphokinetic parameters did not differ statistically between the groups. Data were analyzed according to different age groups (20–30, 30–40,?>40). The morphokinetic parameters did not differ statistically in Group 1 and 3. In Group 2, the times from insemination to tPnf, t2, t3, t4 were significantly shorter in the younger age group than the older age group (p?相似文献   

Surgical rehabilitation following ocular chemical injury

Purpose: The purpose of this study is to evaluate the management of limbal stem cell deficiency (LSCD) secondary to chemical ocular burns.

Materials and methods: The charts of 48 eyes of 40 patients with grade 2 or higher chemical injury were evaluated retrospectively. Subjects with follow-up longer than 1 year were included. Medical treatment, surgical correction of abnormalities of ocular adnexial structures, limbal stem cell transplantation from patient’s fellow eye, from living relatives or from cadaveric donor, amniotic membrane transplantation, conjunctival epitheliectomy, chelation with ethylenediaminetetraacetic acid and penetrating keratoplasty were the treatment modalities. Outcome measures were ocular surface stability and corrected distance visual acuity (CDVA). Failure was defined as the appearance of persistent epithelial defect (nonhealing epithelial defect for more than 2 weeks) with progressive corneal conjunctivalization/vascularization and thinning, and also progression of conjunctivalization to the central 6?mm of the cornea in eyes with subsequent keratoplasty.

Results: The mean age of 31 male and 9 female patients were 32.32?±?12.6 years. LSCD was bilateral in 8 cases. The mean follow-up was 77.2?±?35.1 months. The presentations were in acute phase in 37.5%, in subacute phase in 32.5% and in chronic phase in 30% of the patients. Only 13 of 48 (27.1%) eyes obtained sufficient ocular surface stability through medical treatment; however, only 5 of these eyes achieved CDVA of less than 0.7 logMAR. Limbal stem cell transplantation was performed in 26 eyes as conjunctival limbal autograft, living-related conjunctival limbal allograft and keratolimbal allograft or as a combination of these transplantations. At the last visit, 30 eyes (62.5%) had an intact and stable ocular surface. Clear cornea was achieved in 11 (78.6%) of 14 eyes with grade 2 injury, in 9 (60%) of 15 eyes with grade 3 injury, in 5 (50%) of 10 eyes with grade 4 injury, in 1 (16.6%) of 6 eyes with grade 5 injury and in 1 (33.3%) of 3 eyes with grade 6 injury. The CDVA that was 1.66?±?0.99 logMAR initially improved to 0.87?±?0.85 logMAR at the last visit (p?Conclusion: While patients with low-grade chemical injury seem to benefit quite well from the medical treatment, amniotic membrane transplantation, limbal graft transplantation and subsequent keratoplasty; patients with severe injuries seem to be more prone to failure after all of the available treatment modalities.     

A novel hydrogen peroxide scavenging assay of phenolics and flavonoids using cupric reducing antioxidant capacity (CUPRAC) methodology

Hydrogen peroxide (H₂O₂), a biologically relevant, non-radical oxidizing species, may be formed in tissues through oxidative processes, but there has been limited information regarding its scavenging by polyphenolic antioxidants. The present study was undertaken to investigate the hydrogen peroxide scavenging (HPS) activity of several polyphenolic compounds, some fruit juices and green tea extract. HPS activity has usually been determined by following the rate of H₂O₂ consumption in an incubation system (H₂O₂ + scavenger) using the classical UV-method at 230 nm. Since some polyphenols have strong absorption in the UV-region, their HPS activity was alternatively determined without interference by directly measuring the concentration of H₂O₂ using the HPS–CUPRAC (cupric reducing antioxidant capacity) method at 450 nm in the presence of a Cu(II) salt (since H₂O₂ is relatively stable, and not scavenged unless transition metal compounds are present as catalysts). Comparison between two groups of phenolics revealed that benzoate derivatives are much stronger H₂O₂ scavengers than cinnamic acids. The findings of the developed method for polyphenolics were statistically alike with those of the reference GSH-Px-DTNB (glutathione peroxidase-5,5′-dithio-bis(2-nitrobenzoic acid)) and HPLC–ECD methods. The proposed spectrophotometric method was rapid, practical, low-cost, and could reliably assay H₂O₂ in the presence of polyphenolic scavengers, without being affected from UV-absorbing substances.