Phytobial remediation advances and application of omics and artificial intelligence: a review.

Industrialization and urbanization increased the use of chemicals in agriculture, vehicular emissions, etc., and spoiled all environmental sectors. It causes various problems among living beings at multiple levels and concentrations. Phytoremediation and microbial association are emerging as a potential method for removing heavy metals and other contaminants from soil. The treatment uses plant physiology and metabolism to remove or clean up various soil contaminants efficiently. In recent years, omics and artificial intelligence have been seen as powerful techniques for phytobial remediation. Recently, AI and modeling are used to analyze large data generated by omics technologies. Machine learning algorithms can be used to develop predictive models that can help guide the selection of the most appropriate plant and plant growth-promoting rhizobacteria combination that is most effective at remediation. In this review, emphasis is given to the phytoremediation techniques being explored worldwide in soil contamination.

Pollution indices and correlation of heavy metals contamination in the groundwater around brick kilns in Jammu and Kashmir, India.

The present investigation focuses on assessing the water quality of groundwater surrounding brick kilns in the Jammu district of Jammu and Kashmir (J&K). At 43 different brick kiln sites in both north and south regions of Jammu, concentrations of heavy metals were measured using established techniques. The elements zinc, copper, iron, lead, cadmium, nickel, and manganese were analyzed utilizing an Atomic Absorption Spectrophotometer (AAS). The pollution load index value was consistently below unity across all sites, suggesting an absence of pollution and making the water suitable for consumption. The average concentrations, listed in ascending order, were found to be 0.38 mg/L for copper, 0.31 mg/L for zinc, 0.01 mg/L for iron, and 0.09 mg/L for manganese. Notably, concentrations of lead, cadmium, and nickel were found below the detectable levels. Evaluation of contamination factors revealed the sequence Cu > Fe > Zn > Mn, while the geo accumulation index followed the sequence Cu > Fe > Mn > Zn. Comparison of these findings with the established standards of World Health Organization and Bureau of Indian Standards indicated that the recorded ranges were within permissible limits. The study's outcomes suggest that heavy metal emissions from brick kilns may not significantly impact the quality of groundwater. Elevated copper levels found near brick kilns were likely to result from plumbing materials in the study area. Iron and manganese in groundwater seems to have geo-genic origin and not emission-related. This research represents a foundational step in examining groundwater contamination by heavy metals specifically in the neighborhood of brick kilns in Jammu district. It contributes to the establishment of a comprehensive database and serves as a reference point for future studies. Additionally, the study recommends regular monitoring of groundwater to ensure the maintenance of drinking water quality.

Outcomes of Revision Total Ankle Replacement.

The objective of this study is to provide an up-to-date review of the outcomes of revision total ankle arthroplasty (TAA). Relevant studies published over the last decade were reviewed. Twelve studies were included. At a median follow-up of 4 years, the median survival and reoperation rates were 86% and 16%, respectively. Significant postoperative improvements in patient-reported outcome measures were recorded in 6 studies. Significant improvement in alignment was documented in 1 study only. Revision TAA is a safe procedure that can produce good outcomes. Nevertheless, data relating to long-term outcome are still limited in quantity and duration.

Cost-Utility Analysis of Total Ankle Replacement Compared with Ankle Arthrodesis for Patients Aged 50-85 Years with End-Stage Ankle Osteoarthritis: The TARVA Study.

BACKGROUND: Patients with end-stage ankle osteoarthritis suffer from reduced mobility and quality of life and the main surgical treatments are total ankle replacement (TAR) and ankle fusion (AF). OBJECTIVES: Our aim was to calculate the mean incremental cost per quality-adjusted life-year (QALY) of TAR compared with AF in patients with end-stage ankle osteoarthritis, over 52 weeks and over the patients' lifetime. METHOD: We conducted a cost-utility analysis of 282 participants from 17 UK centres recruited to a randomised controlled trial (TARVA). QALYs were calculated using index values from EQ-5D-5L. Resource use information was collected from case report forms and self-completed questionnaires. Primary analysis was within-trial analysis from the National Health Service (NHS) and Personal Social Services (PSS) perspective, while secondary analyses were within-trial analysis from wider perspective and long-term economic modelling. Adjustments were made for baseline resource use and index values. RESULTS: Total cost at 52 weeks was higher in the TAR group compared with the AF group, from the NHS and PSS perspective (mean adjusted difference £2539, 95% confidence interval [CI] £1142, £3897). The difference became very small from the wider perspective (£155, 95% CI -  £1947, £2331). There was no significant difference between TAR and AF in terms of QALYs (mean adjusted difference 0.02, 95% CI -  0.015, 0.05) at 52 weeks post-operation. The incremental cost-effectiveness ratio (ICER) was £131,999 per QALY gained 52 weeks post-operation. Long-term economic modelling resulted in an ICER of £4200 per QALY gained, and there is a 69% probability of TAR being cost effective at a cost-effectiveness threshold of £20,000 per QALY gained. CONCLUSION: TAR does not appear to be cost effective over AF 52 weeks post-operation. A decision model suggests that TAR can be cost effective over the patients' lifetime but there is a need for longer-term prospectively collected data. Clinical trial registration ISRCTN60672307 and ClinicalTrials.gov NCT02128555.

Two to Five-Year Outcomes of Total Ankle Arthroplasty with the Infinity Fixed-Bearing Implant: A Concise Follow-up of a Previous Report.

LEVEL OF EVIDENCE: Therapeutic Level II. See Instructions for Authors for a complete description of levels of evidence.

Spatio-temporal evaluation of surface water quality of Tawi watershed in the Himalayan region of Jammu (J&K, UT) using algal pollution indices: a geospatial approach.

In the present work, an investigation was performed based on the genera and species stated in Palmer pollution index to show the extent of organic pollution in the surface water of the Tawi watershed in the Jammu province of the Union Territory of Jammu and Kashmir using algal pollution indices. Sampling was carried out for two seasons, pre-monsoon (PRM) and post-monsoon (POM), at 16 locations distributed over the entire Tawi watershed. The physico-chemical variables like water temperature, pH, electrical conductivity, TDS, total alkalinity, total hardness, DO, BOD, COD, nitrate, and phosphate were analyzed. The seasonal distribution of the pollution-tolerant algal genera and species was recorded and the algal pollution index for both genus (AGP index) and species (ASP index) was also calculated. The concentration of BOD, COD, and nitrate in the sampled river water was found to be higher during the PRM season as compared to the POM season. The lower stretch of the watershed (Jammu Sub-Watershed) falls in class IV-V as per the polluted river stretch priority ranking based on BOD levels as BOD levels are >3 mg/L in the downstream locations during both seasons. A total of 23 algal taxa belonging to 8 families, Chlorophyceae (4 algal genera), Cyanophyceae (2 algal genera), Bacillariophyceae (7 algal genera), Zygnematophyceae (3 algal genera), Trebouxiophyceae (2 algal genera), Ulvophyceae (1 algal genus), Mediophyceae (1 algal genus), and Euglenophyceae (3 algal genera), have been reported in the Tawi watershed. The results of the Palmer indices showed a lack of organic pollution in the upstream, varying pollution levels in the midstream, and partially high to very high organic pollution levels in the downstream of the watershed. Comparative temporal analysis of the distribution of pollution-tolerant algal genera and species showed more organic pollution during PRM. Navicula and Cymbella were found to be the most abundant genera in almost all the stations, whereas Ulothrix, Cocconeis, Anacystis, and Crucigenia were the least recorded genera in the entire watershed. The results will enhance the understanding of the health status of the watershed, and provide database for watershed vulnerability assessment for sustainability and watershed management with spatio-temporal improvement.

Zadek Osteotomy, a Good Treatment Option for Refractory Haglund's Deformity.

INTRODUCTION: Haglund's deformity (a prominence in the posterosuperior aspect of the calcaneum) is a known cause of posterior heel pain. Surgery is reserved for patients after failed conservative treatment. Zadek osteotomy is a dorsal-closing wedge osteotomy that reduces the posterior heel prominence. Zadek osteotomy is becoming a favored procedure, however, there are still relatively few studies focusing on patient-reported outcomes. Our main aim was to assess patient-reported outcomes following the Zadek osteotomy in refractory Haglund's deformity. Our secondary aim was to evaluate the correlation between patient outcomes and changes in their pre and postoperative Fowler-Philip and calcaneal pitch angles. METHODS: We conducted a retrospective review of 19 patients (20 heels) who underwent Zadek osteotomy by a single surgeon at a tertiary hospital over six years. Patient-reported outcomes were collected preoperatively and at 12 months postoperatively using the validated Manchester-Oxford foot questionnaire (MOXFQ) scoring system. We also calculated the difference in their pre and postoperative Fowler-Philip angles and calcaneal pitch using the picture archiving communication system. RESULTS: There was an average improvement of 108 points in the MOXFQ score at 12 months (P<0.05). There was no statistically significant change in calcaneal pitch. However, the Fowler-Phillip angle dropped with an average of 11.4 º (P<0.05). A decrease in the Fowler-Philip angle does improve patient-related outcome measurement scores, however, the relationship is not directly proportional with "r" measured at 0.23. CONCLUSION: Our results show that Zadek osteotomy is a useful procedure to consider in patients with symptomatic refractory Haglund's deformity, with an improvement in patient outcomes at 12 months. However, further studies are needed to give stronger evidence for the efficacy of this procedure and its radiological correlations.

Total Ankle Replacement Versus Arthrodesis for End-Stage Ankle Osteoarthritis: A Randomized Controlled Trial.

BACKGROUND: End-stage ankle osteoarthritis causes severe pain and disability. There are no randomized trials comparing the 2 main surgical treatments: total ankle replacement (TAR) and ankle fusion (AF). OBJECTIVE: To determine which treatment is superior in terms of clinical scores and adverse events. DESIGN: A multicenter, parallel-group, open-label randomized trial. (ISRCTN registry number: 60672307). SETTING: 17 National Health Service trusts across the United Kingdom. PATIENTS: Patients with end-stage ankle osteoarthritis, aged 50 to 85 years, and suitable for either procedure. INTERVENTION: Patients were randomly assigned to TAR or AF surgical treatment. MEASUREMENTS: The primary outcome was change in Manchester-Oxford Foot Questionnaire walking/standing (MOXFQ-W/S) domain scores between baseline and 52 weeks after surgery. No blinding was possible. RESULTS: Between 6 March 2015 and 10 January 2019, a total of 303 patients were randomly assigned; mean age was 68 years, and 71% were men. Twenty-one patients withdrew before surgery, and 281 clinical scores were analyzed. At 52 weeks, the mean MOXFQ-W/S scores improved for both groups. The adjusted difference in the change in MOXFQ-W/S scores from baseline was -5.6 (95% CI, -12.5 to 1.4), showing that TAR improved more than AF, but the difference was not considered clinically or statistically significant. The number of adverse events was similar between groups (109 vs. 104), but there were more wound healing issues in the TAR group and more thromboembolic events and nonunion in the AF group. The symptomatic nonunion rate for AF was 7%. A post hoc analysis suggested superiority of fixed-bearing TAR over AF (-11.1 [CI, -19.3 to -2.9]). LIMITATION: Only 52-week data; pragmatic design creates heterogeneity of implants and surgical techniques. CONCLUSION: Both TAR and AF improve MOXFQ-W/S and had similar clinical scores and number of harms. Total ankle replacement had greater wound healing complications and nerve injuries, whereas AF had greater thromboembolism and nonunion, with a symptomatic nonunion rate of 7%. PRIMARY FUNDING SOURCE: National Institute for Health and Care Research Heath Technology Assessment Programme.

Clinical and Radiographic Outcomes of Revision Total Ankle Arthroplasty Using the INBONE II Prosthesis.

BACKGROUND: The literature on the outcome of revision total ankle arthroplasty (TAA) remains limited. In this study, we aimed to report the clinical and radiographic outcomes of revision TAA at a high-volume center in the United Kingdom. METHODS: This study was a retrospective review of 28 patients who underwent 29 revision TAAs using the INBONE II Total Ankle System (Wright Medical Technology/Stryker). Demographic, radiographic, and patient-reported outcome measure data were analyzed. RESULTS: The mean duration from primary TAA to revision was 87.5 months (range, 16 to 223 months). The main indication for the revision was aseptic loosening after the primary TAA (83%). Additional procedures were required in 76% of ankles. At a mean follow-up of 40 months (range, 24 to 60 months), the infection rate was 7%, the reoperation rate was 7%, and the implant survival rate was 97%. A significant postoperative improvement in the radiographic component alignment measures was observed. The subsidence, loosening, and heterotopic ossification rates in this study were comparable with those in other reports and did not influence the clinical outcome. A significant improvement was observed in the Manchester-Oxford Foot Questionnaire (MOXFQ) in all domains and the EuroQol-5 Dimensions (EQ-5D) in 3 domains at 24 months postoperatively. CONCLUSIONS: Revision TAA using the INBONE II prosthesis was associated with good short-term survival and improvement in postoperative scores at 2 years. Maintenance of the postoperatively improved alignment was documented at the follow-up. The results of this study support the notion that revision TAA is a satisfactory option for failed primary TAA. LEVEL OF EVIDENCE: Therapeutic Level IV . See Instructions for Authors for a complete description of levels of evidence.

Impact assessment on water quality in the polluted stretch using a cluster analysis during pre- and COVID-19 lockdown of Tawi river basin, Jammu, North India: an environment resiliency.

Pollution-free rivers give indication of a healthy ecosystem. The stretch of Tawi river particularly in the Jammu city is experiencing pollution load and the quality is degraded. The present study highlights the impact of COVID-19 lockdown on the water quality of Tawi river in Jammu, J&K Union Territory. Water quality data based upon the real-time water monitoring for four locations (Below Tawi Bridge, Bhagwati Nagar, Belicharana and Surajpur) have been obtained from the web link of Jammu and Kashmir Pollution Control Board. The important parameters used in the present study include pH, alkalinity, hardness, conductivity, BOD and COD. The river was designated fit for bathing in all the monitoring locations except Bhagwati Nagar which recorded a BOD value >5 mg/L because of domestic sewage and municipal waste dumping. The overall water quality in the river during lockdown was good and falls in Class B with pH (7.0-8.5), alkalinity (23.25-185.0 mg/L), hardness (84.25-177.5 mg/L), conductivity (117-268 ms/cm). The improved water quality obtained during lockdown is never long-lasting as evident from the BOD and COD values observed during Unlock 1.0 due to accelerated anthropogenic activities in response to overcoming the economic loss, bringing the river water quality back to the degraded state. The statistical analysis known as cluster analysis has also been performed to evaluate the homogeneity of various monitoring sites based on the physicochemical variables. The need of the hour is to address the gaps of rejuvenation strategies and work over them for effective river resiliency and for sustainable river basin management.

Total ankle replacement : comparison of the outcomes of STAR and Mobility.

Total Ankle Replacement is a recognised treatment for end-stage ankle arthritis and an alternative to arthrodesis. This study reviews a single centre series of prospectively collected outcome measures to determine whether the Mobility performs better than the Scandinavian ankle replacement. The primary outcome measure was the survivorship. Secondary outcome measures consisted of complications and international scoring systems. 147 Scandinavian and 162 Mobility ankle replacements were reviewed at a mean follow up of 12.4 and 7.7 years respectively. The revision rate, which included liner exchange, component exchange or removal of implant was at 7 years 12.3% (18) for Scandinavian and 5.2% (8) for Mobility. The complication rate was 16.5% (22) for Scandinavian compared to 9.9 % (15) for Mobility. The results of our unit compare favourably with previous published studies. In this study the Mobility has been shown to have more favourable results at 7 years compared to the Scandinavian.

Biology and survival of extremely halophilic archaeon Haloarcula marismortui RR12 isolated from Mumbai salterns, India in response to salinity stress.

Haloarchaea are unique microorganism's resistant to environmental and osmotic stresses and thrive in their habitats despite extreme fluctuating salinities. In the present study, haloarchaea were isolated from hypersaline thalossohaline salterns of Bhandup, Mumbai, India and were identified as Haloferax prahovense, Haloferax alexandrines, Haloferax lucentense, Haloarcula tradensis, Haloarcula marismortui and Haloarcula argentinensis. The mechanism of adaptation to contrasting salinities (1.5 M and 4.5 M) was investigated in the extreme haloarchaeon, Hal. marismortui RR12. Hal. marismortui RR12 increased the intracellular sequestration of K(+) and Cl(-) ions in hypo salinity and hyper salinity respectively as detected by Energy-dispersive X-ray spectroscopy microanalysis (EDAX) and Inductively Coupled Plasma- atomic Emission Spectroscopy (ICP-AES) indicating the presence of 'salt-in' strategy of osmoadaptation. As a cellular response to salinity stress, it produced small heat shock like proteins (sHSP) identified using MALDI-TOF MS and increased the production of protective red carotenoid pigment. This is the first report on the study of the concomitant cellular, molecular and physiological mechanism adapted by Hal. marismortui RR12 when exposed to contrasting salinities in external environment.

Comparison of Changes in Tensile Strength in Three Different Flexible Epidural Catheters Under Various Conditions.

BACKGROUND: Rarely, epidural catheters may fracture upon removal or insertion. Understanding some of the mechanical properties of epidural catheters, such as their tensile strength and how external factors (including temperature) can influence their strength, will aid physicians in making decisions if faced with an entrapped catheter. In the present study, we evaluated the impact in tensile strength when catheters are exposed to 37 ± 1°C, after the removal of the inner metal coil and after the injection of sterile saline through the catheter. METHODS: We analyzed the tensile strength of a total of 120 catheters (19-gauge) from 3 different brands and materials. The reinforced epidural catheters were affixed to opposing, specially designed tensile test fixtures and then installed in an Applied Test System tensile test apparatus. We evaluated the strength of 10 catheters from different brands and materials for each of the following variables: at room temperature (control group), after the removal of the inner wire present in all the flexible catheters tested, injection of normal saline, and at 37 ± 1°C. RESULTS: When compared with their control groups, the Arrow catheter (2.85 kg) was shown to be superior to B-Braun (2.17 kg; P < 0.0001) and Smith catheters (2.33 kg; P < 0.0005). No statistical difference was noted between the Smith and B-Braun catheters (P = 0.39). When comparing catheters after wire removal against their respective control group, no statistical difference was noted. A decrease in tensile strength was noted in the B-Braun catheters (1.53 kg) when tested at 37°C (P ≤ 0.0001). In contrast, the Smith and the Arrow catheters did not show a statistically significant change when tested at 37°C (P = 1.0 and P = 0.063, respectively). After the injection of normal saline, the Arrow (2.33 kg) and the B-Braun (1.58 kg) catheters showed a decrease in tensile strength (P = 0.0010 and P = 0.0001, respectively). CONCLUSIONS: The current recommendation of injecting saline through an entrapped catheter resulted in a decrease in tensile strength of the Arrow and B-Braun catheters. A decrease in tensile strength also was noted in the B-Braun catheters when tested at 37°C. There is no benefit, at least in terms of tensile strength, in removing the wire or inner coil from any of the tested brands. The Smith catheter was the most resilient, showing no decrease in tensile strength at 37°C and after the injection of normal saline when compared with control.

Insights into Diversity and Imputed Metabolic Potential of Bacterial Communities in the Continental Shelf of Agatti Island.

Marine microbes play a key role and contribute largely to the global biogeochemical cycles. This study aims to explore microbial diversity from one such ecological hotspot, the continental shelf of Agatti Island. Sediment samples from various depths of the continental shelf were analyzed for bacterial diversity using deep sequencing technology along with the culturable approach. Additionally, imputed metagenomic approach was carried out to understand the functional aspects of microbial community especially for microbial genes important in nutrient uptake, survival and biogeochemical cycling in the marine environment. Using culturable approach, 28 bacterial strains representing 9 genera were isolated from various depths of continental shelf. The microbial community structure throughout the samples was dominated by phylum Proteobacteria and harbored various bacterioplanktons as well. Significant differences were observed in bacterial diversity within a short region of the continental shelf (1-40 meters) i.e. between upper continental shelf samples (UCS) with lesser depths (i.e. 1-20 meters) and lower continental shelf samples (LCS) with greater depths (i.e. 25-40 meters). By using imputed metagenomic approach, this study also discusses several adaptive mechanisms which enable microbes to survive in nutritionally deprived conditions, and also help to understand the influence of nutrition availability on bacterial diversity.

Transmission of muscle force to fascia during exercise.

OBJECTIVE: As the muscle contracts, fibers get thicker, forcing the fascial tubular layers surrounding the muscle (endomysium, perimysium and epimysium) to expand in diameter and hence to shorten in length. We develop a mathematical model to determine the fraction of force generated by extremity muscles during contraction that is transmitted to the surrounding tubes of fascia. METHODS: Theory of elasticity is used to determine the modulus of elasticity, radial strain and the radial stress transmitted to the fascia. RESULTS: Starting with published data on dimensions of muscle and muscle force, we find radial stress is 50% of longitudinal stress in the soleus, medial gastrocnemius, and elbow flexor and extensor muscles. CONCLUSION: Substantial stress is transmitted to fascia during muscular exercise, which has implications for exercise therapies if they are designed for fascial as well as muscular stress. This adds additional perspective to myofascial force transmission research.

Description of Domibacillus indicus sp. nov., isolated from ocean sediments and emended description of the genus Domibacillus.

A novel Gram-stain-positive, spore-forming, aerobic, non-motile, rod-shaped bacterium designated strain SD111(T) that forms red-pigmented colonies was isolated from a marine sediment sample (collected from 5 m depth) from Lakshadweep, India. Strain SD111(T) grew well on seawater agar at pH 6-10 (optimum pH 7.5±0.2). It showed maximum (97.6 %) 16S rRNA gene sequence similarity and formed a monophyletic clade with Domibacillus robiginosus WS 4628(T) ( = DSM 25058(T)). The genomic DNA G+C content was 37.4 mol% and the strain showed 37.7 % DNA-DNA relatedness to D. robiginosus DSM 25058(T). The major fatty acids were anteiso-C15 : 0, C16 : 0, iso-C15 : 0 and iso-C16 : 0 and MK-6 was the predominant quinone. The polar lipid profile of strain SD111(T) consisted of unidentified phospholipids (PL1 and PL2), phosphatidylglycerol (PG) and diphosphatidylglycerol (DPG). The cell wall contained meso-diaminopimelic acid and the peptidoglycan was of A1γ type. Glucose and ribose were detected as major cell-wall sugars. Results from polyphasic studies indicated that SD111(T) represents a novel species of the genus Domibacillus for which the name Domibacillus indicus sp. nov. is proposed. The type strain is SD111(T) ( = MCC 2255(T) = DSM 28032(T)).

Pediatric hallux valgus.

Hallux valgus in children is a relatively uncommon deformity, also known by several other names such as juvenile or adolescent bunion, metatarsus primus varus, and metatarsus primus adductus. The presence of an open growth plate is considered by most to be part of the definition of this condition. However, others include patients up to age 20 years, owing to the plastic nature of the various components of the condition. The presenting complaint is invariably of the bunion and its cosmetic appearance. Treatment should be conservative and surgery avoided till skeletal maturity is achieved due to the high incidence of recurrence in children.

Impact of renal dysfunction on the Seattle Heart Failure Model.

BACKGROUND: Renal dysfunction (RD) is a strong predictor of mortality in patients with heart failure (HF). However, its impact on the discrimination of the Seattle Heart Failure Model (SHFM) is poorly understood. METHODS: Serum creatinine (SCr) and creatinine clearance (CrCl) were reviewed for patients from four of the six cohorts originally used to derive and validate the SHFM. Patients were followed for death. The independent prediction of adding SCr or CrCl to the SHFM was assessed using multivariable Cox proportional hazards and the incremental value for prediction by changes in the ROC curves for 1- and 2-year event prediction. RESULTS: Among 7,146 patients (mean age 63 ± 11 years), 1,511 deaths occurred during a mean follow-up of 2.04 years. SCr and CrCl had a modest positive correlation with SHFM (r = 0.30, p = 0.002). In combination with SHFM, SCr (hazard ratio [HR] per mg/dl 1.25, 95% CI 1.13 to 1.38, p < 0.0001) and CrCl (HR per 10 ml/min 0.95, 95% CI 0.93 to 0.97, p < 0.0001) were both multivariable predictors of events. When stratified by absolute risk based on the SHFM, SCr or CrCl provided more additional information in lower risk patients and less or no additional information in higher risk patients. The addition of SCr and the SHFM*SCr, or CrCl and the SHFM*CrCl interaction to the SHFM was associated with almost no change in the 1- and 2-year area under ROC curves for the SHFM score. CONCLUSIONS: Compared with the SHFM alone, RD is independently predictive of mortality only in lower risk patients. Overall discrimination is only minimally improved with addition of SCr or CrCl to the SHFM.

Two Somali half-siblings with CHST3-related chondrodysplasia illustrating the phenotypic spectrum and intrafamilial variability.

Deficiency of carbohydrate sulfotransferase 3 (CHST3; also known as chondroitin-6-sulfotranferase) has been associated with a phenotype of severe chondrodysplasia and progressive spinal involvement. Recent reports indicate that affected individuals initially present with neonatal multiple joint dislocations. We describe a 14-year-old Somali patient and her 3-year-old maternal half-brother with novel homozygous CHST3 mutations. The proband presented at the age 5½ years with short stature and genua valga. Her clinical course was characterized by rapid progression of spinal deformities and large joint contractures. Her half-brother presented at birth with bilateral knee dislocation and talipes equinovarus. This report of a Somali family with CHST3-related chondrodysplasia illustrates the intrafamilial variability in phenotypic expression of this rare disorder. © 2013 Wiley Periodicals, Inc.

Concurrent vision dysfunctions in convergence insufficiency with traumatic brain injury.

PURPOSE: This study assessed the prevalence of convergence insufficiency (CI) with and without simultaneous vision dysfunctions within the traumatic brain injury (TBI) sample population because although CI is commonly reported with TBI, the prevalence of concurrent visual dysfunctions with CI in TBI is unknown. METHODS: A retrospective analysis of 557 medical records from TBI civilian patients was conducted. Patients were all evaluated by a single optometrist. Visual acuity, oculomotor function, binocular vision function, accommodation, visual fields, ocular health, and vestibular function were assessed. Statistical comparisons between the CI and non-CI, as well as inpatient and outpatient subgroups, were conducted using χ and Z tests. RESULTS: Approximately 9% of the TBI sample had CI without the following simultaneous diagnoses: saccade or pursuit dysfunction; third, fourth, or sixth cranial nerve palsy; visual field deficit; visual spatial inattention/neglect; vestibular dysfunction; or nystagmus. Photophobia with CI was observed in 16.3% (21 of 130), and vestibular dysfunction with CI was observed in 18.5% (24 of 130) of the CI subgroup. Convergence insufficiency and cranial nerve palsies were common and yielded prevalence rates of 23.3% (130 of 557) and 26.9% (150 of 557), respectively, within the TBI sample. Accommodative dysfunction was common within the nonpresbyopic TBI sample, with a prevalence of 24.4% (76 of 314). Visual field deficits or unilateral visual spatial inattention/neglect was observed within 29.6% (80 of 270) of the TBI inpatient subgroup and was significantly more prevalent compared with that of the outpatient subgroup (p < 0.001). Most TBI patients had visual acuities of 20/60 or better in the TBI sample (85%; 473 of 557). CONCLUSIONS: Convergence insufficiency without simultaneous visual or vestibular dysfunctions was observed in about 9% of the visually symptomatic TBI civilian population studied. A thorough visual and vestibular examination is recommended for all TBI patients.