scholarly journals Ocular coloboma—a comprehensive review for the clinician

Eye ◽  
2021 ◽  
Author(s):  
Gopal Lingam ◽  
Alok C. Sen ◽  
Vijaya Lingam ◽  
Muna Bhende ◽  
Tapas Ranjan Padhi ◽  
...  
Keyword(s):  
Retinal Detachment ◽  
Optic Disc ◽  
Chromosomal Abnormalities ◽  
Ocular Manifestations ◽  
Increased Risk ◽  
Complete Treatment ◽  
Attractive Option ◽  
Unknown Gene ◽  
Gene Defects ◽  
And Function

AbstractTypical ocular coloboma is caused by defective closure of the embryonal fissure. The occurrence of coloboma can be sporadic, hereditary (known or unknown gene defects) or associated with chromosomal abnormalities. Ocular colobomata are more often associated with systemic abnormalities when caused by chromosomal abnormalities. The ocular manifestations vary widely. At one extreme, the eye is hardly recognisable and non-functional—having been compressed by an orbital cyst, while at the other, one finds minimalistic involvement that hardly affects the structure and function of the eye. In the fundus, the variability involves the size of the coloboma (anteroposterior and transverse extent) and the involvement of the optic disc and fovea. The visual acuity is affected when coloboma involves disc and fovea, or is complicated by occurrence of retinal detachment, choroidal neovascular membrane, cataract, amblyopia due to uncorrected refractive errors, etc. While the basic birth anomaly cannot be corrected, most of the complications listed above are correctable to a great extent. Current day surgical management of coloboma-related retinal detachments has evolved to yield consistently good results. Cataract surgery in these eyes can pose a challenge due to a combination of microphthalmos and relatively hard lenses, resulting in increased risk of intra-operative complications. Prophylactic laser retinopexy to the border of choroidal coloboma appears to be an attractive option for reducing risk of coloboma-related retinal detachment. However, a majority of the eyes have the optic disc within the choroidal coloboma, thus making it difficult to safely administer a complete treatment.

Internal limiting membrane graft as a treatment for the retinal detachment secondary to an optic disc coloboma

2021 ◽  
pp. 112067212199268
Author(s):  
Jorge Fernández-Engroba ◽  
Muhsen Saman ◽  
Jeroni Nadal
Keyword(s):  
Visual Acuity ◽  
Retinal Detachment ◽  
Optic Disc ◽  
Subretinal Fluid ◽  
Visual Outcome ◽  
Internal Limiting Membrane ◽  
Subretinal Space ◽  
Direct Closure ◽  
Retinal Tears ◽  
Optic Disc Coloboma

Purpose: To report our anatomical outcome with the internal limiting membrane (ILM) graft procedure in the management of rhegmatogenous retinal detachment (RRD) secondary to optic disc coloboma (ODC). Methods: Description of a new surgical procedure in one eye of one patient who underwent pars plana vitrectomy (PPV) combined with ILM graft technique. Subsequent follow-up included optical coherence tomography (OCT) and visual acuity. Results: After only 1 week, the OCT revealed the ILM graft plugging the retinal tear with complete resorption of subretinal fluid. The sealing effect of this graft persisted after 6 months. However, visual outcome was poor and corrected distance visual acuity was 20/200 as a result of the previous long-standing retinal detachment with loss of photoreceptors. Conclusion: We suggest that ILM graft could be performed as a first line treatment in the management of RRD secondary to ODC. This direct closure of the retinal tears, allows a quick and effective interruption of the communication between the subretinal space and the vitreous cavity. Detecting these retinal tears and applying this technique as soon as possible could achieve not only an earlier anatomical success but obtain good visual results in retinal tears with RRD secondary to ODC. Further studies will be necessary to provide more evidences

scholarly journals Shallow Water Diving-Associated Alveolar Hemorrhage in an Active Duty Sailor: A Case Report

2021 ◽  
Author(s):  
Brannon L Inman ◽  
Rachel E Bridwell ◽  
Amber Cibrario ◽  
Sarah Goss ◽  
Joshua J Oliver
Keyword(s):  
Case Report ◽  
Lung Injury ◽  
Active Duty ◽  
Service Members ◽  
Breath Hold ◽  
Common Complication ◽  
Special Operations ◽  
Increased Risk ◽  
History Of ◽  
And Function

ABSTRACT Breath-hold diving is a common practice as a part of military dive training. An association between prior lung injury and a propensity for lung barotrauma may have the potential to impact mission readiness for combat divers, Pararescue, Combat Controllers, Army Engineer divers, and various units in Naval Special Warfare and Special Operations. Barotrauma is a common complication of diving, typically occurring at depths greater than 30 m (98.4 ft). Individuals with abnormal lung anatomy or function may be at increased risk of barotrauma at shallower depths than those with healthy lungs, rendering these service members unfit for certain missions. We describe the case of a 25-year-old male, with a remote history of polytrauma and resultant pulmonary pleural adhesions, whose dive training was complicated by lung barotrauma at shallow depths. In missions or training utilizing breath-hold diving, the association with secondary alterations in lung or thoracic anatomy and function may limit which service members can safely participate.

scholarly journals Association of P10L Polymorphism in Melanopsin Gene with Chronic Insomnia in Mexicans

2021 ◽  
Vol 18 (2) ◽  
pp. 571
Author(s):  
Bianca Ethel Gutiérrez-Amavizca ◽  
Ernesto Prado Montes de Oca ◽  
Jaime Paul Gutiérrez-Amavizca ◽  
Oscar David Castro ◽  
Cesar Heriberto Ruíz-Marquez ◽  
...  
Keyword(s):  
Statistical Power ◽  
Medical Condition ◽  
Severity Index ◽  
Recessive Model ◽  
Chronic Insomnia ◽  
Exact Test ◽  
Fisher's Exact Test ◽  
Increased Risk ◽  
Fisher’S Exact Test ◽  
And Function

The aim of this pilot study was to determine the association of the P10L (rs2675703) polymorphism of the OPN4 gene with chronic insomnia in uncertain etiology in a Mexican population. A case control study was performed including 98 healthy subjects and 29 individuals with chronic insomnia not related to mental disorders, medical condition, medication or substance abuse. Samples were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Genetic analyses showed that the T allele of P10L increased risk to chronic insomnia in a dominant model (p = 1 ×10−4; odds ratio (OR) = 9.37, CI = 8.18–335.66, Kelsey statistical power (KSP) = 99.9%), and in a recessive model (p = 7.5 × 10−5, OR = 9.37, KSP = 99.3%, CI = 2.7–34.29). In the insomnia group, we did not find a correlation between genotypes and chronotype (p = 0.219 Fisher’s exact test), severity of chronic insomnia using ISI score (p = 0.082 Fisher’s exact test) and ESS score (p ˃ 0.999 Fisher’s exact test). However, evening chronotype was correlated to daytime sleepiness severity, individuals with an eveningness chronotype had more severe drowsiness according to their insomnia severity index (ISI) score (p = 0.021 Fisher’s exact test) and Epworth sleepiness scale (ESS) score (p = 0.015 Fisher’s exact test) than the morningness and intermediate chronotype. We demonstrated that the T allele of the P10L polymorphism in the OPN4 gene is associated with chronic insomnia in Mexicans. We suggest the need to conduct larger studies in different ethnic populations to test the probable association and function of P10L and other SNPs in the OPN4 gene and in the onset of chronic insomnia.

scholarly journals Overview of Inositol and Inositol Phosphates on Chemoprevention of Colitis-Induced Carcinogenesis

Molecules ◽  
2020 ◽  
Vol 26 (1) ◽  
pp. 31
Author(s):  
Samuel E. Weinberg ◽  
Le Yu Sun ◽  
Allison L. Yang ◽  
Jie Liao ◽  
Guang Yu Yang
Keyword(s):  
Inositol Phosphates ◽  
Human Cancer ◽  
Energy Transduction ◽  
Nutritional Deficiencies ◽  
Increased Risk ◽  
Rna Export ◽  
Inflammatory Bowel ◽  
And Function ◽  
Biologic Function ◽  
Atp Regeneration

Chronic inflammation is one of the most common and well-recognized risk factors for human cancer, including colon cancer. Inflammatory bowel disease (IBD) is defined as a longstanding idiopathic chronic active inflammatory process in the colon, including ulcerative colitis and Crohn’s disease. Importantly, patients with IBD have a significantly increased risk for the development of colorectal carcinoma. Dietary inositol and its phosphates, as well as phospholipid derivatives, are well known to benefit human health in diverse pathologies including cancer prevention. Inositol phosphates including InsP3, InsP6, and other pyrophosphates, play important roles in cellular metabolic and signal transduction pathways involved in the control of cell proliferation, differentiation, RNA export, DNA repair, energy transduction, ATP regeneration, and numerous others. In the review, we highlight the biologic function and health effects of inositol and its phosphates including the nature and sources of these molecules, potential nutritional deficiencies, their biologic metabolism and function, and finally, their role in the prevention of colitis-induced carcinogenesis.

scholarly journals Regenerative Medicine Approaches for Age-Related Muscle Loss and Sarcopenia: A Mini-Review

Gerontology ◽  
2017 ◽  
Vol 63 (6) ◽  
pp. 580-589 ◽  
Author(s):  
Juan Diego Naranjo ◽  
Jenna L. Dziki ◽  
Stephen F. Badylak
Keyword(s):  
Regenerative Medicine ◽  
Treatment Options ◽  
The Elderly ◽  
Signaling Molecules ◽  
Current Treatment ◽  
Muscle Physiology ◽  
Age Related ◽  
Increased Risk ◽  
And Function ◽  
Age Related Changes

Sarcopenia is a complex and multifactorial disease that includes a decrease in the number, structure and physiology of muscle fibers, and age-related muscle mass loss, and is associated with loss of strength, increased frailty, and increased risk for fractures and falls. Treatment options are suboptimal and consist of exercise and nutrition as the cornerstone of therapy. Current treatment principles involve identification and modification of risk factors to prevent the disease, but these efforts are of limited value to the elderly individuals currently affected by sarcopenia. The development of new and effective therapies for sarcopenia is challenging. Potential therapies can target one or more of the proposed multiple etiologies such as the loss of regenerative capacity of muscle, age-related changes in the expression of signaling molecules such as growth hormone, IGF-1, myostatin, and other endocrine signaling molecules, and age-related changes in muscle physiology like denervation and mitochondrial dysfunction. The present paper reviews regenerative medicine strategies that seek to restore adequate skeletal muscle structure and function including exogenous delivery of cells and pharmacological therapies to induce myogenesis or reverse the physiologic changes that result in the disease. Approaches that modify the microenvironment to provide an environment conducive to reversal and mitigation of the disease represent a potential regenerative medicine approach that is discussed herein.

scholarly journals Risk factors for macular pucker after rhegmatogenous retinal detachment surgery

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Toshiaki Hirakata ◽  
Yoshimune Hiratsuka ◽  
Shutaro Yamamoto ◽  
Koki Kanbayashi ◽  
Hiroaki Kobayashi ◽  
...  
Keyword(s):  
Risk Factors ◽  
Retinal Detachment ◽  
Surgical Technique ◽  
Regression Models ◽  
Rhegmatogenous Retinal Detachment ◽  
Surgical Repair ◽  
Macular Pucker ◽  
Logistic Regression Models ◽  
Retinal Breaks ◽  
Increased Risk

AbstractMacular pucker, also known as an epiretinal membrane, sometimes forms after surgical repair of a rhegmatogenous retinal detachment (RRD) and can decrease visual acuity and cause aniseikonia. However, few reports are evaluating the risk factors of macular pucker using multivariate analysis. To evaluate the risk factors for macular pucker after RRD surgery, 226 patients who underwent RRD surgery and were monitored for greater than 12 months (23.2 ± 6.4 months) after surgery were analyzed retrospectively. Of these cases, macular pucker developed in 26 cases. Multiple logistic regression models of 22 clinical characteristics were performed. An increased risk of macular pucker after RRD surgery was significantly associated with preoperative vitreous haemorrhage (Odds ratio (OR), 4.71; 95% CI 1.19–18.62), multiple retinal breaks (OR, 8.07; 95% CI 2.35–27.71), re-detachment (OR, 19.66; 95% CI 4.87–79.38), and retinal detachment area (OR, 12.91; 95% CI 2.34–71.19). Macular pucker was not associated with the surgical technique. Regardless of the surgical technique used, careful observation for postoperative macular pucker is needed after RRD surgery in high-risk cases. These findings can be used to improve the surgical management of patients with RRD. (183 words).

scholarly journals Within-subjects Effects of Standardized Prosthetic Socket Modifications on Physical Function and Patient-Reported Outcomes

2021 ◽  
Author(s):  
William Anderst ◽  
Goeran Fiedler ◽  
Kentaro Onishi ◽  
Gina McKernan ◽  
Tom Gale ◽  
...  
Keyword(s):  
Physical Function ◽  
Patient Reported Outcomes ◽  
Design Method ◽  
Pressure Sensors ◽  
Residual Limb ◽  
Prosthetic Socket ◽  
Large Patient ◽  
Increased Risk ◽  
Patient Reported ◽  
And Function

Abstract • Background: Among the challenges of living with lower limb loss is the increased risk of long-term health problems that can be either attributed directly to the amputation surgery and/or prosthetic rehabilitation or indirectly to a disability-induced sedentary lifestyle. These problems are exacerbated by poorly fit prosthetic sockets. There is a knowledge gap regarding how the socket design affects in-socket mechanics, and how in-socket mechanics affect patient-reported comfort and function. The objectives of this study are: 1) to gain a better understanding of how in-socket mechanics of the residual limb in transfemoral amputees are related to patient-reported comfort and function, 2) to identify clinical tests that can streamline the socket design process, and 3) to evaluate the efficacy and cost of a novel, quantitatively informed socket optimization process.• Methods: Users of transfemoral prostheses will be asked to walk on a treadmill wearing their current socket plus 8 different check sockets with designed changes in different structural measurements that are likely to induce changes in residual limb motion, skin strain, and pressure distribution within the socket. Dynamic biplane radiography and pressure sensors will be used to measure in-socket residual limb mechanics. Patient-reported outcomes will also be collected after wearing each socket. The effects of in-socket mechanics on both physical function and patient-reported outcomes (aim 1) will be assessed using a generalized linear model. Partial correlation analysis will be used to examine the association between research grade measurements and readily available clinical measurements (aim 2). In order to compare the new quantitative design method to the Standard of Care, patient reported outcomes and cost will be compared between the two methods, utilizing the Wilcoxon Mann-Whitney non-parametric test (aim 3).• Discussion: Knowledge on how prosthetic socket modifications affect residual bone and skin biomechanics itself can be applied to devise future socket designs, and the methodology can be used to investigate and improve such designs, past and present. Apart from saving time and costs, this may result in better prosthetic socket fit for a large patient population, thus increasing their mobility, participation, and overall health-related quality of life. • Trial registration: clinicaltrials.gov: NCT05041998

scholarly journals The possible significance of trisomy 8 in acute myeloid leukemia

2017 ◽  
Vol 5 (6) ◽  
pp. 2652 ◽  
Author(s):  
Salil N. Vaniawala ◽  
Monika V. Patel ◽  
Pratik D. Chavda ◽  
Shivangi H. Zaveri ◽  
Pankaj K. Gadhia
Keyword(s):  
Acute Myeloid Leukemia ◽  
Chromosomal Aberrations ◽  
Myeloid Leukemia ◽  
Chromosomal Abnormalities ◽  
Prognostic Significance ◽  
Chromosomal Translocation ◽  
Banding Technique ◽  
Trisomy 8 ◽  
Increased Risk ◽  
Acute Myeloid

Background: Acute myeloid leukemia (AML) is a heterogeneous disorder that results from a block in the differentiation of haematopoietic progenitor cells along with uncontrolled proliferation. Trisomy 8 is the most common recurring numerical chromosomal aberrations in acute myeloid leukemia (AML). It occurs either as a sole anomaly or together with other additional chromosomal aberrations. The prognostic significance of trisomy 8 in presence of other additional chromosomal abnormality depends on clonal cytogenetic changes. The patients with trisomy 8 had shorter survival with significantly increased risk with other chromosomal abnormality.Methods: Total 139 patients were screened between January 2016 to November 2016 who were suspected of AML cases. Bone marrow cultures were set up using conventional cytogenetic methods. Chromosomal preparation was made and subjected to GTG banding technique. Banded metaphases were analysed and karyotyped for further analysis.Results: Cytogenetic evaluation of karyotyped of 139 suspected AML patients showed 52 with t(8;21)(q22;q22), 36 with t(15;17)(q22;q12), and 11 with inv(16)(p13;q22). The rest 40 cases found with additional chromosomal abnormalities, of which 16 were sole trisomy 8 and 24 cases were found with other chromosomal abnormalities In addition, only one person found with t(8;21) and trisomy 8, while  three person having t(15;17) with trisomy 8.Conclusions: AML is considered to be one of the most important cytogenetic prognostic determinants. Recurrent chromosomal translocation with trisomy 8 varying 1.9% for t(8;21) and 8.3% for t(15;17). In the present study trisomy 8 in AML with known favourable anomalies is very small. Therefore, it cannot be taken as a prognostic marker.

scholarly journals Vitamin and mineral nutrition for the health and development of the children of Europe

2001 ◽  
Vol 4 (1a) ◽  
pp. 91-99 ◽  
Author(s):  
Andrew Tomkins
Keyword(s):  
Nutritional Status ◽  
Adult Health ◽  
Future Health ◽  
Childhood Nutrition ◽  
Nutritional Interventions ◽  
Childhood Diet ◽  
Structure Of Communities ◽  
Increased Risk ◽  
Key Factor ◽  
And Function

AbstractMost European countries are now affected by demographic transition and changing epidemiology of disease; the nutrition of children is increasingly recognised as crucial for present and future health. Adequate dietary intake and nutritional status among children are important for their own growth, development and function but there is now increasing evidence that childhood nutrition also influences adult health. Intrauterine nutrition influences adult morbidity and mortality, but the childhood diet and nutritional status modify the increased risk of being born small. Thus, childhood diet needs to be taken more seriously in order to improve a nation's health as well as producing bright, active children. A key factor is the recognition that nutritional interventions at different stages of the life cycle are necessary if childhood nutrition is to improve. The mosaic pattern of the geography and social structure of communities in Europe produces ‘poverty’ and ‘consumer’ related nutrition patterns - often side by side. At one extreme, there is an urgent need to prevent obesity; while at the other extreme serious attention is required towards the prevention of deficiency disorders, mostly related to poverty and social exclusion. Few European governments take childhood nutrition at all seriously. This paper reviews a number of micronutrient issues and makes the case for the development of evidence-based policies and programmes for improving the nutrition of children in Europe.

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