Clinical Response to Olaparib in a Patient With Leptomeningeal Carcinomatosis in Newly Diagnosed Breast Cancer With Germline BRCA2 Mutation.

Case of LMC in a BRCA2-mutated breast cancer patient shows clinical improvement with Olaparib therapy.

Sociodemographic factors linked to food allergy diagnosis among high-risk children with atopic dermatitis.

BACKGROUND: Atopic dermatitis (AD) is a known risk factor for the development of food allergy (FA). Prior work has suggested disparities in diagnosis/management of FA in urban populations. OBJECTIVE: To determine whether socioeconomic conditions, as measured by the area deprivation index and insurance status, or racial/ethnic self-identity was associated with risk of FA diagnosis (DFA), evaluation by an allergist, or objective FA testing among high-risk children with AD. METHODS: This is a retrospective cohort study of pediatric patients with physician-diagnosed AD who had received primary care at a single urban academic tertiary care center between 2009 and 2022. Statistical analysis in SPSS (IBM Corp. Released 2017. IBM SPSS Statistics for Windows, Version 25.0, Armonk, NY) used χ2, analysis of variance, and logistic regression. RESULTS: In a total of 3365 pediatric subjects, 41.3% identified as non-Hispanic Black, 33.9% Hispanic, 6.9% Asian, and 14.9% non-Hispanic White. Hispanic children with AD and DFA were significantly less likely to be evaluated by an allergist than White or Asian children (65.9% vs 82.8% and 80.3%, P = .001 and P = .02). Non-Hispanic Black children with AD and DFA were more likely to have no objective FA testing than White children (20.9% vs 12.1%, P = .04). The White and Asian children were more likely to undergo the thorough combination of both blood and skin testing for DFA than Black or Hispanic children (15.5% and 22.4% vs 7.1% and 7.9%, respectively, P = .007, P = .00005, P = .03, P = .0008). CONCLUSION: Labeling at-risk young children with FA without thorough objective testing can affect their nutrition and quality of life. Barriers to equitable evaluation of DFA should be further investigated and addressed.

The 'Insertion/Deletion' Polymorphism, rs4340 and Diabetes Risk: A Pilot Study from a Hospital Cohort.

The insertion/deletion, I/D polymorphism, in the gene encoding Angiotensin Converting Enzyme, ACE is a popular genetic marker for cardiovascular disease, CVD. With alarming rise in diabetes, the risk of CVD among Indian subjects is further enhanced. The present study explored the role of ACE I/D polymorphism, rs4340 as a genetic marker and its association with diabetes. Genomic DNA, isolated from a cohort of 410 urban subjects attending our hospital, was genotyped using polymerase chain reaction followed by electrophoresis. Among the subjects, 84 had type-2 diabetes and 68 had hypertension while 258 were free from these risk factors. Majority (57/84) of diabetic subjects were also suffering from hypertension. Genotype frequencies of ACE I/D polymorphism, of diabetic (84) patients were not different from that of non-diabetic subjects (258). In sharp contrast, we found significant differences, in genotype frequencies of women with diabetes (n = 38) compared to non-diabetic women (70). Diabetic women had significantly higher prevalence of the high risk 'D' allele. Analysis of odds ratio, OR revealed that women with 'D/D' genotype, exhibited threefold risk (OR 3.12, 95% CI 1.21-8.05; p = 0.018) of diabetes, in the recessive model (D/D vs I/I + I/D). Further when we analysed Odds ratio of diabetic women (8) who were free from hypertension, the results revealed even a greater, 6- fold (OR 6.0, 95% CI 1.29-27.96, p = 0.027) risk of diabetes for D/D homozygous women (D/D vs I/I + I/D). These results suggest 'sex-specific' association of ACE 'I/D' polymorphism, with type-2 diabetes, affecting women while there was no influence observed among men. In view of the increased cardiovascular mortality among Indians, data from our pilot study if confirmed in a larger cohort, could add value to our future intervention efforts.

Proregenerative extracellular matrix hydrogel mitigates pathological alterations of pelvic skeletal muscles after birth injury.

Pelvic floor disorders, including pelvic organ prolapse and urinary and fecal incontinence, affect millions of women globally and represent a major public health concern. Pelvic floor muscle (PFM) dysfunction has been identified as one of the leading risk factors for the development of these morbid conditions. Childbirth, specifically vaginal delivery, has been recognized as the most important potentially modifiable risk factor for PFM injury; however, the precise mechanisms of PFM dysfunction after parturition remain elusive. In this study, we demonstrated that PFMs exhibit atrophy and fibrosis in parous women with symptomatic pelvic organ prolapse. These pathological alterations were recapitulated in a preclinical rat model of simulated birth injury (SBI). The transcriptional signature of PFMs after injury demonstrated an impairment in muscle anabolism, persistent expression of genes that promote extracellular matrix (ECM) deposition, and a sustained inflammatory response. We also evaluated the administration of acellular injectable skeletal muscle ECM hydrogel for the prevention of these pathological alterations. Treatment of PFMs with the ECM hydrogel either at the time of birth injury or 4 weeks after injury mitigated PFM atrophy and fibrosis. By evaluating gene expression, we demonstrated that these changes are mainly driven by the hydrogel-induced enhancement of endogenous myogenesis, ECM remodeling, and modulation of the immune response. This work furthers our understanding of PFM birth injury and demonstrates proof of concept for future investigations of proregenerative biomaterial approaches for the treatment of injured pelvic soft tissues.

Diversity and Distribution of ß-Lactamase Genes Circulating in Indian Isolates of Multidrug-Resistant Klebsiella pneumoniae.

Klebsiella pneumoniae (Kp) has gained prominence in the last two decades due to its global spread as a multidrug-resistant (MDR) pathogen. Further, carbapenem-resistant Kp are emerging at an alarming rate. The objective of this study was (1) to evaluate the prevalence of ß-lactamases, especially carbapenemases, in Kp isolates from India, and (2) determine the most prevalent sequence type (ST) and plasmids, and their association with ß-lactamases. Clinical samples of K. pneumoniae (n = 65) were collected from various pathology labs, and drug susceptibility and minimum inhibitory concentrations (MIC) were detected. Whole genome sequencing (WGS) was performed for n = 22 resistant isolates, including multidrug-resistant (MDR) (n = 4), extensively drug-resistant (XDR) (n = 15), and pandrug-resistant (PDR) (n = 3) categories, and genomic analysis was performed using various bioinformatics tools. Additional Indian MDRKp genomes (n = 187) were retrieved using the Pathosystems Resource Integration Center (PATRIC) database. Detection of ß-lactamase genes, location (on chromosome or plasmid), plasmid replicons, and ST of genomes was carried out using CARD, mlplasmids, PlasmidFinder, and PubMLST, respectively. All data were analyzed and summarized using the iTOL tool. ST231 was highest, followed by ST147, ST2096, and ST14, among Indian isolates. blaampH was detected as the most prevalent gene, followed by blaCTX-M-15 and blaTEM-1. Among carbapenemase genes, blaOXA-232 was prevalent and associated with ST231, ST2096, and ST14, which was followed by blaNDM-5, which was observed to be prevalent in ST147, ST395, and ST437. ST231 genomes were most commonly found to carry Col440I and ColKP3 plasmids. ST16 carried mainly ColKP3, and Col(BS512) was abundantly present in ST147 genomes. One Kp isolate with a novel MLST profile was identified, which carried blaCTX-M-15, blaOXA-1, and blaTEM-1. ST16 and ST14 are mostly dual-producers of carbapenem and ESBL genes and could be emerging high-risk clones in India.

Clinical Reasoning: A 32-Year-Old Woman With Tunnel Vision and Back Pain.

The incidence of new onset visual disturbances in emergency departments across the country is frequent. A detailed history of events and thoughtful physical examination may produce a diagnosis; however, atypical cases may require further diagnostic testing to explain symptoms. We present a case of presumed increased intracranial pressure with atypical findings on diagnostic testing, which allowed our team to explore a broader differential diagnosis. This clinical reasoning article will benefit students, residents, and attendings alike to continue to uncover etiologies for symptoms of increased intracranial pressure and review differential diagnoses in similar presentations.

Pearls & Oy-sters: Vertical Diplopia and Ocular Torsion: Peripheral vs Central Localization.

We describe a case with torsional deviation of the eyes from a brainstem lesion. Torsional eye movement refers to changes in the position of the eyes in the roll plane around the visual axis. When the head is tilted laterally (that is, rolled towards the shoulder), the eyes roll in the opposite direction as part of the torsional vestibulo-ocular reflex known as the ocular counter-roll (OCR). Pathologies that affect the otolith-ocular pathway can lead to a torsional deviation of the eyes as part of the ocular tilt reaction (OTR) that also cause vertical deviation of the eyes (skew deviation) and head tilt. Lesions caudal to the pontomedullary junction (such as the labyrinth, eighth cranial nerve, or vestibular nucleus) result in an OTR with ipsiversive torsional deviation, whereas lesions rostral to the junction result in an OTR with contraversive torsional deviation. Furthermore, torsional deviation of the eyes in OTR is conjugate (incyclotorsion in the higher eye and excyclotorsion in the lower eye), whereas torsional deviation from ocular palsy in peripheral lesions is disconjugate (e.g., exyclotorsion only in the higher eye with superior oblique palsy). Therefore, the pattern of torsional eye deviation can be helpful in localizing the lesion. Several techniques including fundus photography, double Maddox rod testing, optical coherence tomography (OCT), and video-oculography are used to measure torsional eye position.

Geographical Variability in CYP1B1 Mutations in Primary Congenital Glaucoma.

Primary congenital glaucoma (PCG) is a rare type of glaucoma that is inherited in an autosomal recessive manner. PCG can lead to blindness if not detected early in children aged 3 or younger. PCG varies in presentation among various populations, where disease presentation and disease severity vary by mutation. The most common gene implicated in PCG is cytochrome p450 1B1 (CYP1B1). Here, we sought to review the literature for mutations in CYP1B1 and their presentation among different populations. Areas of interest include recent findings on disease presentation and potential implications on our understanding of PCG pathophysiology.

Quantifying the Effects of Aging on Morphological and Cellular Properties of Human Female Pelvic Floor Muscles.

Age-related pelvic floor muscle (PFM) dysfunction is a critical defect in the progression to pelvic floor disorders (PFDs). Despite dramatic prevalence of PFDs in older women, the underlying pathophysiology of age-related PFM dysfunction remains poorly understood. Using cadaveric specimens, we quantified aging effects on functionally relevant PFM properties and compared PFMs with the appendicular muscles from the same donors. PFMs, obturator internus, and vastus lateralis were procured from younger (N = 4) and older (N = 11) donors with known obstetrical and medical history. Our findings demonstrate that PFMs undergo degenerative, rather than atrophic, alterations. Importantly, age-related fibrotic degeneration disproportionally impacts PFMs compared to the appendicular muscles. We identified intramuscular lipid accumulation as another contributing factor to the pathological alterations of PFMs with aging. We observed a fourfold decrease in muscle stem cell (MuSC) pool of aged relative to younger PFMs, but the MuSC pool of appendicular muscles from the same older donors was only twofold lower than in younger group, although these differences were not statistically significant. Age-related degeneration appears to disproportionally impact PFMs relative to the appendicular muscles from the same donors. Knowledge of tissue- and cell-level changes in aged PFMs is essential to promote our understanding of the mechanisms governing PFM dysfunction in older women.

The frequency of non-pathologically thin corneas in young healthy adults.

Purpose: Measurement of normal corneal thickness and corneal epithelial thickness is important in keratorefractive surgery, glaucoma, following extended contact lens wear, and in patients with corneal disease. Clinically, a central corneal thickness less than 500 µm is considered to be moderately-to-extremely thin. The purpose of this study was to compare biological differences in patients with clinically thin compared to normal corneal thickness values in healthy young adults using Fourier domain optical coherence tomography. Patients and methods: In total, 168 eyes from 84 patients aged 19-38 years were scanned using an Avanti optical coherence tomographer. To eliminate circadian effects on corneal thickness, all patients were scanned within a 4-hour window. Corneal thickness was measured across the central 6 mm of the cornea. Total central corneal thickness, corneal epithelial thickness, and corneal stromal thickness were compared between males and females and tested for correlations with age, use of systemic hormones, degree of myopia, and corneal curvature. Results: The average central corneal thickness for males and females was 540.5±32.0 µm and 525.2±33.0 µm, respectively (P=0.020). Thirty-eight eyes had corneal thickness measurements below 500 µm; 12% (6 eyes) from males and 28% (16 eyes) from females (P=0.008). All women with corneas below 500 µm were bilaterally thin. This finding differed for men. Corneal thinning was not associated with age, use of systemic hormones, or degree of myopia. Females had steeper keratometry (K) readings (P=0.01 for flat K, P=0.002 for steep K) than males. No differences in layer offset values between normal thickness corneas and thin corneas were evident, suggesting that the reduced thickness was not pathological. Conclusion: The results of this study indicate that a subpopulation of healthy young adults have non-pathologically thin corneas, well below 500 µm; and that these thinner corneas are more frequent in females. This underscores the importance of accurate corneal thickness measurements prior to keratorefractive surgery and when evaluating intraocular pressure in glaucoma.

Evaluating Dispatch-Assisted CPR Using the CARES Registry.

OBJECTIVES: Dispatch-assisted cardiopulmonary resuscitation (DA-CPR) has been shown to improve cardiac arrest survival. Recent literature has proposed dispatch metrics for provision of this intervention. Our objectives are to: use the Cardiac Arrest Registry to Enhance Survival (CARES) to compare current practice to proposed DA-CPR guidelines; describe barriers to DA-CPR; and assess the association of DA-CPR with out-of-hospital cardiac arrest (OHCA) survival. METHODS: We reviewed data from structured dispatch reviews of 911 OHCA calls from 1/1/14-12/31/15. Dispatch data including whether dispatch CPR instruction was given, and time intervals to CPR instruction and provision were linked with OHCA data elements from field cardiac arrest process and outcome data. Descriptive data on barriers to dispatch-caller instruction and measures of dispatcher performance were calculated. We compared outcome of patients who received bystander CPR prior to the 911 call (BCPR), after dispatcher CPR instructions (DA-CPR), and not until Emergency Medical Services (EMS) arrival (no BCPR). RESULTS: We identified 3335 cases from 32 dispatch agencies in 9 states that had dispatch and outcome data. CPR was performed prior to the 911 call by a bystander in 496 (14.9%) cases. Of all calls where the dispatcher talked to a bystander, dispatchers recognized cardiac arrest in 82.9% cases (1514/1827), with 31.6% calls recognized in <60 seconds. DA-CPR instructions were initiated in most (1320/1514, 87.2%) cases, and cardiac compressions were initiated in 73.7% (973/1320). DA-CPR was performed < two minutes in 21.4% of cases. In a multivariable analysis, BCPR (CPR prior to EMS arrival without instructions given) was associated with significantly improved patient survival (OR = 1.49, 95% CI 1.09, 2.04), and DA-CPR a non-significant improvement in survival to discharge (OR = 1.19, 95% CI 0.91, 1.56). CONCLUSIONS: Temporal measures of dispatch performance were substantially below proposed national standards. In this population, OHCA was frequently recognized and DA-CPR performed but was not associated with a significant improvement in survival.

Functional analysis of rare variants in mismatch repair proteins augments results from computation-based predictive methods.

The cancer-predisposing Lynch Syndrome (LS) arises from germline mutations in DNA mismatch repair (MMR) genes, predominantly MLH1, MSH2, MSH6, and PMS2. A major challenge for clinical diagnosis of LS is the frequent identification of variants of uncertain significance (VUS) in these genes, as it is often difficult to determine variant pathogenicity, particularly for missense variants. Generic programs such as SIFT and PolyPhen-2, and MMR gene-specific programs such as PON-MMR and MAPP-MMR, are often used to predict deleterious or neutral effects of VUS in MMR genes. We evaluated the performance of multiple predictive programs in the context of functional biologic data for 15 VUS in MLH1, MSH2, and PMS2. Using cell line models, we characterized VUS predicted to range from neutral to pathogenic on mRNA and protein expression, basal cellular viability, viability following treatment with a panel of DNA-damaging agents, and functionality in DNA damage response (DDR) signaling, benchmarking to wild-type MMR proteins. Our results suggest that the MMR gene-specific classifiers do not always align with the experimental phenotypes related to DDR. Our study highlights the importance of complementary experimental and computational assessment to develop future predictors for the assessment of VUS.

Effectiveness and Safety of an Independently Run Nurse Practitioner Outpatient Cardioversion Program (2009 to 2014).

Sustained growth in the arrhythmia population at Stanford Health Care led to an independent nurse practitioner-run outpatient direct current cardioversion (DCCV) program in 2012. DCCVs performed by a medical doctor, a nurse practitioner under supervision, or nurse practitioners from 2009 to 2014 were compared for safety and efficacy. A retrospective review of the electronic medical records system (Epic) was performed on biodemographic data, cardiovascular risk factors, medication history, procedural data, and DCCV outcomes. A total of 869 DCCVs were performed on 557 outpatients. Subjects were largely men with an average age of 65 years; 1/3 were obese; most had atrial fibrillation; and majority of subjects were on warfarin. The success rate of the DCCVs was 93.4% (812 of 869) with no differences among the groups. There were no short-term complications: stroke, myocardial infarction, or death. The length of stay was shortest in the NP group compared to the other groups (p <0.001). In conclusion, the success rate of DCCV in all groups was extremely high, and there were no complications in any of the DCCV groups.

Outcomes of implantation of modified capsule tension rings with multiple black occluder paddles for eyes with congenital and acquired iris defects: Report 3.

PURPOSE: To evaluate the safety and efficacy of Morcher 50F iris diaphragm implantation to manage moderate to large defects of the human iris. SETTING: Stein Eye Institute, UCLA, Los Angeles, California, USA. DESIGN: Prospective nonrandomized interventional case series. METHODS: The demographic, preoperative, and postoperative data of patients who had implantation of modified capsular tension rings and followed to 1 year were reviewed. Safety measures included loss of corrected distance visual acuity (CDVA), surgical complications, adverse events, and secondary surgical interventions. Efficacy measures included CDVA with glare, daytime and nighttime glare symptom scores, and subjective cosmesis scores. RESULTS: The study comprised 12 patients. The median CDVA was 20/70 before surgery and 20/20 after surgery. There were no lost lines of CDVA and no intraoperative complications. The most common postoperative complication was posterior capsule opacification. Two adverse events were unrelated to the device. Four patients had secondary surgical interventions, the most common of which was laser capsulotomy. The median CDVA with glare improved from less than 20/400 before surgery to 20/50 after surgery. One patient worsened. The median subjective daytime glare symptom score improved from 9 to 3 on a 10-point scale (P = .001). The median nighttime subjective glare symptom score improved from 8 to 2 (P = .001). The subjective cosmetic appearance of the eye stayed the same or improved for all patients (P = .031). CONCLUSION: Iris diaphragm implantation was relatively safe and effective for reducing light and glare sensitivity in eyes with iris defects when combined with cataract extraction and intraocular lens implantation. FINANCIAL DISCLOSURE: None of the authors has a financial or proprietary interest in any material or method mentioned.

Development of a Rapid Point-of-Use DNA Test for the Screening of Genuity® Roundup Ready 2 Yield® Soybean in Seed Samples.

Testing for the presence of genetically modified material in seed samples is of critical importance for all stakeholders in the agricultural industry, including growers, seed manufacturers, and regulatory bodies. While rapid antibody-based testing for the transgenic protein has fulfilled this need in the past, the introduction of new variants of a given transgene demands new diagnostic regimen that allows distinguishing different traits at the nucleic acid level. Although such molecular tests can be performed by PCR in the laboratory, their requirement for expensive equipment and sophisticated operation have prevented its uptake in point-of-use applications. A recently developed isothermal DNA amplification technique, recombinase polymerase amplification (RPA), combines simple sample preparation and amplification work-flow procedures with the use of minimal detection equipment in real time. Here, we report the development of a highly sensitive and specific RPA-based detection system for Genuity Roundup Ready 2 Yield (RR2Y) material in soybean (Glycine max) seed samples and present the results of studies applying the method in both laboratory and field-type settings.

Safety and feasibility of fasting in combination with platinum-based chemotherapy.

BACKGROUND: Short-term starvation prior to chemotherapy administration protects mice against toxicity. We undertook dose-escalation of fasting prior to platinum-based chemotherapy to determine safety and feasibility in cancer patients. METHODS: 3 cohorts fasted before chemotherapy for 24, 48 and 72 h (divided as 48 pre-chemo and 24 post-chemo) and recorded all calories consumed. Feasibility was defined as ≥ 3/6 subjects in each cohort consuming ≤ 200 kcal per 24 h during the fast period without excess toxicity. Oxidative stress was evaluated in leukocytes using the COMET assay. Insulin, glucose, ketones, insulin-like growth factor-1 (IGF-1) and IGF binding proteins (IGFBPs) were measured as biomarkers of the fasting state. RESULTS: The median age of our 20 subjects was 61, and 85 % were women. Feasibility criteria were met. Fasting-related toxicities were limited to ≤ grade 2, most commonly fatigue, headache, and dizziness. The COMET assay indicated reduced DNA damage in leukocytes from subjects who fasted for ≥48 h (p = 0.08). There was a non-significant trend toward less grade 3 or 4 neutropenia in the 48 and 72 h cohorts compared to 24 h cohort (p = 0.17). IGF-1 levels decreased by 30, 33 and 8 % in the 24, 48 and 72 h fasting cohorts respectively after the first fasting period. CONCLUSION: Fasting for 72 h around chemotherapy administration is safe and feasible for cancer patients. Biomarkers such as IGF-1 may facilitate assessment of differences in chemotherapy toxicity in subgroups achieving the physiologic fasting state. An onging randomized trial is studying the effect of 72 h of fasting. TRIAL REGISTRATION: NCT00936364 , registered propectively on July 9, 2009.

Outcomes of a modified capsular tension ring with a single black occluder paddle for eyes with congenital and acquired iris defects: Report 2.

PURPOSE: To evaluate the safety and efficacy of Morcher 96F iris diaphragm implantation to manage small defects of the human iris. SETTING: Jules Stein Eye Institute, UCLA, Los Angeles, California, USA. DESIGN: Prospective nonrandomized interventional case series. METHODS: Demographic, preoperative, and postoperative data of patients who had implantation of the modified capsular tension ring (CTR) and followed to 1 year were reviewed. Safety measures included loss of corrected distance visual acuity (CDVA), perioperative complications, adverse events, and secondary surgical interventions. Efficacy measures included CDVA with glare, daytime and nighttime glare symptom scores, and subjective cosmesis scores. RESULTS: Sixteen patients had CTR implantation. There was a statistically significant improvement in the median CDVA of 2.5 Snellen lines (P < .01), with 4 patients having minor decreases in CDVA for reasons unrelated to the device. There were no intraoperative complications. Three adverse events were reported: 1 ocular hypertension, 1 postoperative retinal detachment, and 1 25-degree rotation of the CTR. There were 4 secondary surgical interventions. There was a statistically significant improvement in the median CDVA with glare of 8 Snellen lines (P < .01), but 2 patients had a decrease in CDVA with glare for reasons unrelated to the device. There were statistically significant improvements in the median daytime and nighttime glare symptom scores of 5 points and 4 points, respectively (both P < .01). There was no change in cosmesis for most patients. CONCLUSION: Iris diaphragm CTR implantation was relatively safe and effective at reducing light and glare sensitivity in eyes with small iris defects. FINANCIAL DISCLOSURE: No author has a financial or proprietary interest in any material or method mentioned.

Short term outcome of Ahmed glaucoma valve implantation in management of refractory glaucoma in a tertiary hospital in Oman.

BACKGROUND: We present outcomes of Ahmed Glaucoma Valve (AGV) implantation in treating refractory glaucoma in a tertiary hospital in Oman. Refractory glaucoma was defined as previously failed conventional glaucoma surgery and an uncontrolled intraocular pressure (IOP) of more than 21 mm Hg despite treatment with three topical and/or oral therapy. MATERIALS AND METHODS: This historical cohort study was conducted in 2010. Details of medical and surgical treatment were recorded. Ophthalmologists examined eyes and performed glaucoma surgeries using AGV. The best corrected distant vision, IOP, and glaucoma medications were prospectively reviewed on 1(st) day, 1(st), 6(th), 12(th) week postoperatively, and at the last follow up. RESULT: Glaucoma specialists examined and treated 40 eyes with refractory glaucoma of 39 patients (20 males + 19 females). Neo-vascular glaucoma was present in 23 eyes. Vision before surgery was <3/60 in 21 eyes. At 12 weeks, one eye had vision better than 6/12, seven eyes had vision 6/18 to 6/60, and eight eyes had vision 6/60 to 3/60. Mean IOP was reduced from 42.9 (SD 16) to 14.2 (SD 8) and 19.1 (SD 7.8) mmHg at one and 12 weeks after surgery, respectively. At 12 weeks, five (12.5%) eyes had IOP controlled without medication. In 33 (77.5%) eyes, pressure was controlled by using one or two eye drops. The mean number of preoperative anti-glaucoma medications (2.38; SD 1.1) was reduced compared to the mean number of postoperative medications (1.92; SD 0.9) at 12 weeks. CONCLUSION: We succeeded in reducing visual disabilities and the number of anti-glaucoma medications used to treat refractory glaucoma by AGV surgery.

A high-density simple sequence repeat and single nucleotide polymorphism genetic map of the tetraploid cotton genome.

Genetic linkage maps play fundamental roles in understanding genome structure, explaining genome formation events during evolution, and discovering the genetic bases of important traits. A high-density cotton (Gossypium spp.) genetic map was developed using representative sets of simple sequence repeat (SSR) and the first public set of single nucleotide polymorphism (SNP) markers to genotype 186 recombinant inbred lines (RILs) derived from an interspecific cross between Gossypium hirsutum L. (TM-1) and G. barbadense L. (3-79). The genetic map comprised 2072 loci (1825 SSRs and 247 SNPs) and covered 3380 centiMorgan (cM) of the cotton genome (AD) with an average marker interval of 1.63 cM. The allotetraploid cotton genome produced equivalent recombination frequencies in its two subgenomes (At and Dt). Of the 2072 loci, 1138 (54.9%) were mapped to 13 At-subgenome chromosomes, covering 1726.8 cM (51.1%), and 934 (45.1%) mapped to 13 Dt-subgenome chromosomes, covering 1653.1 cM (48.9%). The genetically smallest homeologous chromosome pair was Chr. 04 (A04) and 22 (D04), and the largest was Chr. 05 (A05) and 19 (D05). Duplicate loci between and within homeologous chromosomes were identified that facilitate investigations of chromosome translocations. The map augments evidence of reciprocal rearrangement between ancestral forms of Chr. 02 and 03 versus segmental homeologs 14 and 17 as centromeric regions show homeologous between Chr. 02 (A02) and 17 (D02), as well as between Chr. 03 (A03) and 14 (D03). This research represents an important foundation for studies on polyploid cottons, including germplasm characterization, gene discovery, and genome sequence assembly.

Ocular status and functional adaptation of visually challenged children of a special school in Oman.

INTRODUCTION: We assessed the ocular status and visual adaptation among children studying at a school for visually disabled children in Muscat, Oman. MATERIALS AND METHODS: This descriptive study was conducted in 2009-2010. We assessed the visual and ocular status of the participants. They were interviewed to elicit the past history of eye problems and management. They also expressed their visual adaptation in their 'day-to-day' life, and their ambitions. RESULT: We examined and interviewed 47 participants (29 male and 18 female). The mean age of the participants was 19.7 years (Standard deviation 5.9 years). Twenty-six of them were blind since birth. Phthisical eyes, disfigured eyes and anophthalmic sockets were noted in 19, 58, and six eyes of participants. Twenty-six (55.5%) participants had visual disabilities due to genetic causes, since birth. In 13 participants, further investigations were needed to confirm diagnosis and determine further management After low vision training, 13 participants with residual vision could be integrated in the school with normal children. One participant was recommended stem cell treatment for visual restoration. Five children were advised reconstructive orbital surgery. The participants were not keen to use a white cane for mobility. Some participants, 16 / 28 (57%), with absolute blindness, were not able to read the Braille language. Singing and playing music were not very well-accepted hobbies among the participants. Nineteen participants were keen to become teachers. CONCLUSIONS: Children with visual disabilities need to be periodically assessed. The underlying causes of visual disabilities should be further explored to facilitate prevention and genetic counseling. Participants had visual adaptation for daily living and had ambitions for the future.