Short stature and dysmorphic features in Asian Indian siblings with DAAM2-associated steroid-resistant nephrotic syndrome: Expansion of the phenotypic spectrum or a blended phenotype?

Variants in more than 60 different genes, most of which code for podocyte-related proteins, have been found to be associated with monogenic forms of nephrotic syndrome (NS). Biallelic variants in DAAM2, a member of the formin family, were recently identified to cause autosomal recessive (AR) NS type 24 in four unrelated families with steroid-resistant nephrotic syndrome (SRNS). This case report represents only the fifth reported family of DAAM2-associated NS and the first from India, with two sibs who presented with a complex phenotype characterized by steroid-resistant nephrotic syndrome, short stature, dysmorphic facial features, deep-set toenails, myopia, increased thickness of the calvarium of the skull, and sloping ribs. Both sibs were found to have a homozygous likely pathogenic nonsense variant c.196C>T (p.Arg66Ter; NM_001201427.2) in exon 3 of the DAAM2 gene through whole exome sequencing. The dysmorphic features could possibly be part of the DAAM2-related phenotype which has hitherto not been reported or could represent a blended phenotype, with the extrarenal manifestations resulting from a yet to be identified coexisting genetic condition.

Clinical characteristics and genetic profile of children with WDR72-associated distal renal tubular acidosis: a nationwide experience.

BACKGROUND: Limited data, primarily from small case series, exist regarding the clinical profile, genetic variants, and outcomes of WDR72-associated distal renal tubular acidosis (WDR72-dRTA). METHODS: Our study enrolled children diagnosed with WDR72-dRTA below 18 years of age from 9 Indian centers and analyzed their clinical characteristics, genetic profiles, and outcomes. Potential genotype-phenotype correlations were explored. RESULTS: We report 22 patients (59% female) with WDR72-dRTA who were diagnosed at a median age of 5.3 (3, 8) years with polyuria (n = 17; 77.3%), poor growth (16; 72.7%), and rickets (9; 40.9%). Amelogenesis imperfecta was present in 21 (95.5%) cases. At presentation, all patients had normal anion gap metabolic acidosis; hypokalemia and nephrocalcinosis were seen in 17 (77.3%) patients each. Seven (31.8%) patients had concomitant proximal tubular dysfunction. Genetic analysis identified biallelic nonsense variants in 18 (81.8%) patients, including novel variants in 6 cases. A previously reported variant, c.88C > T, and a novel variant, c.655C > T, were the most frequent variants, accounting for 10 (45.5%) cases. Over a median follow-up of 1.3 (1, 8) years, the height velocity improved by 0.74 (0.2, 1.2) standard deviation scores, while 3 children (13.6%) progressed to chronic kidney disease (CKD) stage 2, with eGFR ranging from 67 to 76 mL/min/1.73 m2, respectively, after 11.3-16 years of follow-up. No specific genotype-phenotype correlation could be established. CONCLUSIONS: WDR72-dRTA should be considered in children with typical features of amelogenesis imperfecta and dRTA. Biallelic nonsense variants are common in Asians. While most patients respond well to treatment with improved growth and preserved eGFR, on long-term follow-up, a decline in eGFR may occur.

Symptomatic lower urinary tract dysfunction in sacral agenesis: Potentially high risk?

INTRODUCTION: Sacral agenesis (SA) is a caudal regression anomaly that can cause neurogenic bladder but is not generally recognized as high risk. We studied the clinical presentation, upper urinary tract, bone and spine abnormalities, and urodynamic findings in patients with SA and compared them with related high-risk conditions, anorectal malformation (ARM), and cloacal malformation. MATERIALS AND METHODS: Patient records between May 2011 and December 2015 were identified and grouped into isolated SA without an overt anomaly (Group I), SA with overt caudal regression anomalies (Group II), and ARM or cloacal malformation without the SA (Group III). Distribution of clinical and urodynamic findings and factors associated with reduced eGFR were tested with rank sum test, t-test, and unadjusted odds (P < 0.05 significant) using R statistical program (version 3.1.3). RESULTS: Of 605 neurogenic bladder patients treated in the study period, 39 fulfilled the inclusion criteria. 12 were Group I, 5 Group II, and 22 Group III. Long-standing lower urinary symptoms were noted in all SA patients. Group I patients were older (14.5 years vs. 6 years and 5 years for II and III). Patients with SA (Group I and II) had poor compliance (6.7 ml/cmH2O, interquartile range [IQR] 4-13.6 ml/cmH2O), reduced age-adjusted bladder capacity (59%, IQR 22-85%), elevated end-fill pressure (22 cmH2O, IQR 11-28 cmH2O), hydronephrosis (88%), and reduction in eGFR (29%), all comparable to Group III. Most had Renshaw type II SA and tethered spinal cord rather than wedge-shaped termination. Limitations include small numbers and significant selection bias. CONCLUSIONS: Symptomatic neurogenic bladder due to SA may cause renal damage similar to ARM but often eludes diagnosis.

Pediatric ocular trauma score as a prognostic tool in the management of pediatric traumatic cataracts.

OBJECTIVE: To introduce and validate the pediatric ocular trauma score (POTS) - a mathematical model to predict visual outcome trauma in children with traumatic cataract METHODS: In this retrospective cohort study, medical records of consecutive children with traumatic cataracts aged 18 and below were retrieved and analysed. Data collected included age, gender, visual acuity, anterior segment and posterior segment findings, nature of surgery, treatment for amblyopia, follow-up, and final outcome was recorded on a precoded data information sheet. POTS was derived based on the ocular trauma score (OTS), adjusting for age of patient and location of the injury. Visual outcome was predicted using the OTS and the POTS and using receiver operating characteristic (ROC) curves. RESULTS: POTS predicted outcomes were more accurate compared to that of OTS (p = 0.014). CONCLUSION: POTS is a more sensitive and specific score with more accurate predicted outcomes compared to OTS, and is a viable tool to predict visual outcomes of pediatric ocular trauma with traumatic cataract.

Cannula dacryocystorhinostomy: a simple, innovative and cost-effective method of lacrimal surgery.

To compare our innovative, cost-effective method of lacrimal surgery with other methods. A prospective cohort study. The study included 80 eyes of 80 consecutive patients who presented to our clinic between January 2009 and December 2011. The patients underwent surgery using a new technique with a specially designed cannula and were followed according to our protocol. Patency on irrigation. Of the 80 cases enrolled, the procedure was successful in 52.5 % with a mean follow-up of 247.2 days. The success rate was significantly affected by the preoperative conditions (p = 0.001) and follow-up duration (p = 0.006). This simple innovative technique was cost-effective and the results were comparable with those of other techniques.

Evaluation of Osteoconductive and Antimicrobial Properties of Novel Graphene on Dental Implants: An In Vitro Study.

Introduction Graphene oxide (GO) has emerged as a promising material in dentistry, leveraging its exceptional properties. This study evaluates the physicochemical attributes of GO and elucidates its derived biological properties. These encompass biocompatibility, antibacterial efficacy, as well as its influence on osteogenic and odontogenic differentiation processes. Understanding the intricate interplay between the physicochemical and biological aspects of GO provides valuable insights into its potential applications in various dental contexts. Materials and methods The study group (so; titanium discs surface coated with GO) and the control group (co; plain/uncoated machined titanium discs) were divided based on cell attachment and cell proliferation assays (n=60). These groups were further divided into subgroups (n=30) based on the tested time intervals, specifically 24 hours, 48 hours, and 72 hours. The study and controlgroups were further subdivided into three subgroups (n=10) based on the microorganisms tested i.e Porphyromonas gingivalis, Prevotella intermedia and Fusobacteria nucleatum. Results The results of this in vitro study suggest that GO-coated titanium dental implants have both increased osteogenic potential and antimicrobial efficacy. Graphene has good potential as a promising alternative to traditional surface treatments, and a graphene-coated implant can be used for enhanced osseointegration.  Conclusion The osteogenic potential and the cell attachment were higher on titanium surfaces coated with GO nanoparticles when compared to plain titanium discs at 24, 48 and 72 hours respectively.

Antimicrobial Efficacy of Essential Oils and Their Combination Against Microorganisms Associated With Postradiation Therapy in Patients With Head and Neck Cancer: An In Vitro Study.

Background Head and neck cancer ranks as the sixth most common cancer globally. Reduced saliva production brought on by postradiation therapy upsets the delicate balance between bacterial load and a weakened immune system. Oral hygiene is commonly neglected in patients who have undergone radiotherapy and they often develop dry mouth, mucositis due to radiation therapy, etc., as side effects. Despite being a part of the current standard, chlorhexidine carries numerous disadvantages such as taste alteration, teeth staining, and dry mouth. An extensive review of the literature demonstrates the antibacterial properties of essential oils (EOs) derived from plant materials, which may be able to prevent the development of such opportunistic microorganisms in the oral cavity. Methodology The cinnamon bark EO and Cajeput EO were procured and checked for their solubility. The final ratio at which the oils were found to be soluble was the 1:1 (w/v) ratio. The minimum inhibitory concentration (MIC) of cinnamon bark oil (Cinnamomum verum) and Cajeput oil (Melaleuca leucadendron) against Staphylococcus aureus, Enterococcus faecalis, and Candida albicans was determined by serial dilution method using Resazurin dye, and the minimum bactericidal concentration (MBC) was done by a spread plating method. The polyherbal mouthwash was subjected to cytotoxicity assay against human gingival fibroblasts. All the experiments were performed in triplicates. Results The overall results showed that cinnamon bark EO had the strongest efficacy against S. aureus (0.33 ± 0.14 mg/mL) and E. faecalis (0.41 ± 0.14 mg/mL), but not against C. albicans (2.85 ± 2.11 mg/mL). Cajeput EO showed the least efficacy against all the groups; whereas the combination of EOs proved to be the most efficacious and showed good antimicrobial activity against these most commonly encountered microorganisms in head and neck cancer postradiotherapy. Conclusions Cinnamon and Cajeput EOs in combination proved to be effective in this in vitro study against the most common microorganisms encountered in patients with head and neck cancer postradiotherapy and are comparable to 0.2% chlorhexidine.

Remineralising potential of Ocimum basilicum varnish and fluoride varnish on initial enamel caries: An in vitro microscopic study.

Background: The focus of caries research has switched to early identification and non-invasive treatment of carious lesions. Aim: This study aimed to evaluate and compare the remineralising potential of Ocimum (O.) basilicum varnish and fluoride varnish on initial enamel caries. Method: The authenticated O. basilicum seeds were procured from a repository, and the extract was prepared using the Soxhlet method, which was vortexed with Indian Pharmaceutical (IP)-graded chemicals to obtain varnish. Extracted premolar tooth samples were divided into three groups of 33 each after demineralisation with a pH of 4.5 for 48 hours at 37°C. Each group was subjected to remineralisation twice daily with respective agents for 4 minutes for 30 consecutive days. Each sample was ground-sectioned through an enamel window. The lesion depth was measured using a light microscope (Leica™ DM2500) and ImageJ software. The data were evaluated using analysis of variance (ANOVA) and post hoc analysis. Results: The mean (± SD) pre-treatment lesion depth across the groups ranged from 242.11 ± 26.144 µm to 352.66 ± 34.531 µm. The highest lesion depth recovery rate of 45.938% was recorded for the fluoride varnish group, followed by 36.015% in the O. basilicum varnish group, which was statistically significant by Tukey's post hoc analysis (p < 0.001). The gingival fibroblast cells were viable by 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyl-2H-tetrazolium bromide (MTT) assay. Conclusion: The O. basilicum varnish demonstrated a homogenous layer of mineral deposition. However, the remineralising efficacy was slightly lesser than that of the fluoride varnish. Hence, the novel O. basilicum-based remineralisation agent appears to have potential as a non-invasive alternative to topical fluorides in the therapy of early caries lesions.

OcularTrauma Score: a useful predictor of visual outcome at six weeks in patients with traumatic cataract.

OBJECTIVE: To validate the predictive value of the Ocular Trauma Score (OTS) in injury cases with traumatic cataracts. DESIGN: Retrospective cohort study. PARTICIPANTS: A total of 787 eyes. METHODS: A total of 787 eyes of 787 subjects with traumatic cataracts were enrolled using specific inclusion criteria. The eyes were examined to review comorbidities caused by trauma. Surgery was performed for traumatic cataracts, lenses were implanted, and patients were treated for amblyopia, as applicable. The patients were reexamined 6 weeks postoperatively. On the basis of ocular trauma described according to the Birmingham Eye Trauma Terminology System, the patients were divided into 2 traumatic cataract groups: open globe injury and closed globe injury. The relationship of visual acuity (VA) with demographic and clinical variables was analyzed. The visual outcomes were predicted using the OTS, and the predictions were compared with the actual outcomes using statistical tests. MAIN OUTCOME MEASURES: Visual acuity. RESULTS: At 6 weeks postoperatively, 245 eyes (31%) had a VA ≥ 20/40 and 480 eyes (61.0%) had a VA >20/200. The OTS prediction was not significantly different when compared with actual visual outcome at 6 weeks postoperatively in all OTS categories. CONCLUSIONS: The relationship of VA at 6 weeks with demographic and clinical variables was analyzed. In this study, the OTS was found as a reliable tool to predict visual outcome in cases of traumatic cataracts 6 weeks postoperatively.

Comparative study of visual outcome of newly designed scleral tuck lens and suture-fixated lens for rehabilitation of aphakia in various aetiologies.

Purpose: Visual rehabilitation in aphakia can be performed using several modalities. However, these modalities could be either technically difficult or expensive. Herein, we developed a scleral tuck lens to provide a simple and cost-effective solution for aphakia and compared its outcome with standard methods. Methods: A specially designed posterior chamber self-sustaining lens was implanted in patients with aphakia without capsular support because of different primary etiologies. The visual outcomes, as well as intraoperative and postoperative complications, were examined. The data were retrieved from electronic medical records, and visual outcome and complication rates were compared. The outcomes were also compared according to the etiology and age groups (pediatric and adults). Results: We found significant improvement in preoperative and postoperative visual outcome. We did not find any significant difference in visual outcome amongst suture-supported scleral fixated lens with scleral tuck lens. Conclusion: Satisfactory visual outcomes were noted with minimal complications; and comparable with gold standard suture fixated lens, however long-term follow-up is required.

Knowledge, attitude, and practices toward tobacco control among rural community health care workers of primary subcenters in Belagavi district, Karnataka.

Context: Tobacco is the common cause to a number of illnesses affecting millions of individuals all over the world. Primary care physicians are the initial point of contact for tobacco users, yet reaching everyone is impossible. Therefore, it is important to understand community health workers attitude to render community services in tobacco cessation counseling. Aim: To assess knowledge, attitude, practices, and occupational barriers toward tobacco control among community health care workers in Belagavi district, Karnataka. Settings and Design: This cross-sectional study was conducted in various subcenters of Belagavi district, Karnataka. Methods and Material: Simple random sampling technique was employed and 220 participants were interviewed using an interviewer administered questionnaire comprising of 22 close ended questions. Reliability of the questionnaire assessed with Cronbach's a value of 0.85, face validity 84%, and content validity ratio 0.78. Statistical Analysis Used: The data were analyzed using descriptive analysis, chi square analysis, correlation, and regression. Results: The mean knowledge score among Accredited Social Health Activist (ASHA) workers was 4.77 ± 2.11 and it was lower in Anganwadi workers 2.93 ± 2.55. There was a statistically significant difference in the attitude scores (P < 0.05) between the community health workers. The majority of the ASHA workers would spread awareness, on the other hand, Anganwadi workers did not take any specific step which showed statistically significant difference with a P value of 0.018. Conclusion: ASHA workers had been superior to Anganwadi workers with regard to knowledge and attitude toward tobacco control. However, knowledge regarding tobacco and its ill effects was below optimal level among community health workers which desires to thoroughly educate in the aspects of oral health and disorders as part of their training.

KCNJ10 mutations disrupt function in patients with EAST syndrome.

BACKGROUND/AIMS: Mutations in the inwardly-rectifying K+ channel KCNJ10/Kir4.1 cause an autosomal recessive disorder characterized by epilepsy, ataxia, sensorineural deafness and tubulopathy (EAST syndrome). KCNJ10 is expressed in the kidney distal convoluted tubule, cochlear stria vascularis and brain glial cells. Patients clinically diagnosed with EAST syndrome were genotyped to identify and study mutations in KCNJ10. METHODS: Patient DNA was sequenced and new mutations identified. Mutant and wild-type KCNJ10 constructs were cloned and heterologously expressed in Xenopus oocytes. Whole-cell K+ currents were measured by two-electrode voltage clamping. RESULTS: Three new mutations in KCNJ10 (p.R65C, p.F75L and p.V259fs259X) were identified, and mutation p.R297C, previously only seen in a compound heterozygous patient, was found in a homozygous state. Wild-type human KCNJ10-expressing oocytes showed strongly inwardly-rectified currents, which by comparison were significantly reduced in all the mutants (p < 0.001). Specific inhibition of KCNJ10 currents by Ba2+ demonstrated residual function in all mutant channels (p < 0.05) but V259X. CONCLUSION: This study confirms that EAST syndrome can be caused by many different mutations in KCNJ10 that significantly reduce K+ conductance. EAST syndrome should be considered in any patient with a renal Gitelman-like phenotype with additional neurological signs and symptoms like ataxia, epilepsy or sensorineural deafness.

A prospective cohort study on the epidemiology of ocular trauma associated with closed-globe injuries in pediatric age group.

Purpose: To study the epidemiology of mechanical ocular trauma and closed globe injury using the Birmingham Eye Trauma Terminology System in patients belonging to the pediatric age group. Methods: This work involved a prospective cohort study of all ocular trauma patients (pediatric age group) registered between 2002 and 2017 at the ocular trauma care center. The data were collected using the international ocular trauma society form through our online MIS data and exported to the Excel sheet. The statistical analyses including the univariate analysis and cross tabulation were carried out using SPSS 22 software. Results: Our cohort consisted of 12687 patients with mechanical ocular trauma. There were 7546 (59.4%) eyes with open globe ocular injuries and 5328 (41.9%) with closed globe injuries. Of all closed globe injury patients, 1010 (19.0%) belonged to the pediatric age group (0-18 years), including 690 males (68.3%) and 320 females (31.7%). The mean age of the patients was 10.2 ± 5.1 years. Of all closed globe injuries, 692 (68.5%) were closed globe contusion and 318 (31.5%) were lamellar laceration. Conclusion: Closed globe injury is an important in cause of vision loss in children (24% <1/60). The condition is more prevalent in males and >51.7% in children under 10 years of age. The treatment has significant impact on the visual outcome in patients belonging to the pediatric age group.

Innovative cost-effective method to repair lacrimal cannaliculi laceration - finding proximal end and stent.

Purpose: To explore a new technique to find out the proximal end of lacerated canaliculi and a new material for the stent. Methods: Surgery was performed on 9 eyes of 9 patients using a 5/0 prolene suture needle as a modified probe. Prolene suture was inserted as a stent and left in place for two months. All the data were analyzed. Results: The surgery was successful in all cases and the prolene were removed after two months. The mean follow-up time after the tube removal was 3.8 months (range 3-6 months). No other complications associated with the prolene sutures were noticed except for epiphora and corneal irritation in three cases. All the tubes were removed successfully without any difficulty. No iatrogenic injuries occurred during prolene removal. Conclusions: The reported surgical technique is a very cost-effective option for lacrimal canalicular laceration repair.

Comparative study of visual outcome between open- and closed-globe injuries following surgical treatment of traumatic cataract in children.

OBJECTIVE: To compare final visual outcomes of surgically treated traumatic cataract between open-globe and closed-globe injuries in children, as classified by the Birmingham Eye Trauma Terminology system. METHODS: This is an observational cohort study with permission from Hospital Ethical Committee. We enrolled children meeting specific inclusion criteria, examined their eyes to review any co-morbidities due to trauma, performed surgery for traumatic cataracts, and implanted lenses. The patients were re-examined postoperatively. We classified the cases of traumatic cataract as either open-globe (Group 1) or closed-globe (Group 2) according to the Birmingham Eye Trauma Terminology system and compared visual acuity. RESULT: Our study cohort of 1076 eyes with traumatic cataracts included 405 eyes in Group 1 and 671 in Group 2. Postoperatively, the visual acuity was >20/60 in 223 (55.3%) and 377 (56.3%) operated eyes in Groups 1 and 2, respectively ( p < 0.001, analysis of variance). With further follow-up, >20/60 vision was significantly higher in Group 2 as compared to Group 1 (odds ratio = 1.61; 95% confidence interval = 0.85-3.02). Overall, 600 eyes (55.7%) regained final visual acuity >20/60. CONCLUSION: Closed-globe injury has more favourable prognosis for the satisfactory (>20/60) visual recovery after effective management of traumatic cataracts in children.

Spontaneous dislocation of lens bag with acrylic lens after uneventful cataract surgery - unusual complication of cataract surgery.

INTRODUCTION: Spontaneous dislocation of intraocular lens with bag is rare. METHODS: We report a case of a 56-year-old male who presented with spontaneous anterior dislocation of an in-the-bag intraocular lens 3 years after manual small incision cataract surgery. He had undergone manual small incision cataract surgery with foldable acrylic intraocular lens implantation, and 18 months after cataract surgery ND: YAG capsulotomy with uneventful post capsulotomy follow-up. 17 months after capsulotomy, the patient presented with sudden decrease of vision. On anterior segment examination, the intraocular lens with bag was dislocated into the anterior chamber. RESULT: It was managed with intraocular lens explantation with bag, anterior vitrectomy and sclera fixated intraocular lens. CONCLUSION: Spontaneous intraocular lens dislocation with bag is possible after 1.5 years of uneventful surgery which may be managed using different techniques.

Lens siderosis resulting from a small intralenticular metallic foreign body.

We report a rare case of lens siderosis with an undetectable intraocular foreign body by imaging. An 8-year-old boy presented with diminution of vision in the left eye since 3 months. His parents gave a preceding uncertain history of a foreign body injury to his left eye 3 months ago while playing. Presenting visual acuity in the left eye was perception of hand movements. Slit-lamp examination revealed a total white cataract with brownish-pigmented spots on the anterior capsule of the lens, but no intraocular foreign body was found. There was also no evidence of an intraocular foreign body on ultrasonography. Patient underwent cataract extraction with intraocular lens implantation. During the operation, a small (2×1×1 mm in size) intralenticular foreign body of metal material was found and removed carefully with a magnet. The patient regained 20/30 vision after surgery.