bluuebunny/crossref_metadata_2025 huggingface dataset:
Prader-Willy syndrome: heterogenous genetic mechanisms in a wide phenotypic spectrum
Authors:   Filantropia Clinical Hospital, Bucharest, Romania, Cardos Georgeta , Dima Vlad ,   Filantropia Clinical Hospital, Bucharest, Romania, Predescu Mariana ,   Filantropia Clinical Hospital, Bucharest, Romania, Demetrian Mihaela ,   Filantropia Clinical Hospital, Bucharest, Romania, Nedelea Florina Mihaela ,   Filantropia Clinical Hospital, Bucharest, Romania,   “Carol Davila” University of Medicine and Pharmacy, Bucharest, Romania
Published: December 2022

Prader-Willi syndrome (PWS) is an imprinted neuro-behavioral syndrome, affecting many organ systems, characterized by severe hypothalamic-pituitary dysfunction, severe hypotonia, feeding difficulties in the neonatal period, followed by hyperphagia with gradual development of morbid obesity since early childhood, short stature, hypogonadism, infertility, characteristic facial features, impaired motor and language development, cognitive impairment of varying degrees, delayed speech, increased risk of developing autism spectrum disorders (ASD), impaired social skills, and behavioral problems and / or severe psychiatric problems. Loss of expression of the preferentially paternally expressed of genes from the chromosomal region 15q11-q13 are the basis of pathogenesis of PWS, which occur through several mechanisms: deletion of 5-6 Mb DNA fragment from the 15q11-q13 region of the inherited paternal chromosome (65-75%), maternal uniparental disomy (mUPD) (in 20-30%) and Imprinting center (IC) defects, as microdeletions and epimutations (in 1-4%). In this paper, we present two cases diagnosed with PWS from our experience. The importance of diagnosis and familial recurrence risk will be discussed, as well as genotype-phenotype relationships in PWS. Patients with PWS should benefit from multidisciplinary management very early for greatly improving their quality of life, taking into consideration that obesity is a major factor influencing morbidity and mortality. In addition, a better understanding of the molecular basis of PWS pathogenesis offers hope for the development of new, revolutionary, epigenetic therapies in PWS, as well as in other genetic imprinting diseases.
The ultrasound evaluation of corpus callosum in the routine screening is not recommended, because we know less than we see
Authors:   Department of Obstetrics, Gynecology and Neonatology, Filantropia Clinical Hospital, Bucharest, Romania, Durdu Cristiana-Elena , Dima Vlad ,   Department of Obstetrics, Gynecology and Neonatology, Filantropia Clinical Hospital, Bucharest, Romania, Mihai Bianca Margareta ,   Department of Obstetrics, Gynecology and Neonatology, Filantropia Clinical Hospital, Bucharest, Romania, Ducu Ionită ,   Department of Obstetrics and Gynecology, Life Memorial Hospital, Bucharest, Romania, Cioca Ana Maria ,   Department of Obstetrics and Gynecology, “Carol Davila” University of Medicine and Pharmacy Bucharest, Romania, Bohiltea Roxana-Elena ,   Department of Obstetrics, Gynecology and Neonatology, Filantropia Clinical Hospital, Bucharest, Romania,   Department of Obstetrics and Gynecology, “Carol Davila” University of Medicine and Pharmacy Bucharest, Romania
Published: December 2022

The corpus callosum serves as a link between the two hemispheres, with an important role in cognitive mechanisms, also integrating motor and sensitive information and processing stimuli. Evaluation of the morphologic structure of the corpus callosum in order to diagnose structural anomalies such as hyperplasia, hypoplasia, as well as indirect signs of corpus callosum agenesia can be realised using ultrasonography during the mid-trimester screening. At present, it is recommended to perform a targeted evaluation only in high-risk cases of central nervous system abnormalities; the International Society of Ultrasound in Obstetrics and Gynaecology has not included the corpus callosum evaluation in the routine second trimester screening. Callosal anomalies present uncertainty in the fetal prognosis: 75% of cases of isolated corpus callosum agenesis develop normally; on the other hand, they could develop various degrees of neurological impairment from language or social deficiency to autism or schizophrenia. We, therefore, highlight the importance of corpus callosum evaluation, as the agenesis of the corpus callosum can be an isolated defect, but it can also be associated with other extracerebral anomalies or it could be a part of a syndrome. Completing the diagnosis often requires magnetic resonance imaging and genetic tests.
Chronic headache and migraine in pregnancy
Authors:   Department of Obstetrics and Gynecology, Filantropia Clinical Hospital, Bucharest, Romania, Varlas Valentin ,   “Carol Davila” University of Medicine and Pharmacy, Bucharest, Romania, Dima Vlad ,   “Carol Davila” University of Medicine and Pharmacy, Bucharest, Romania, Bors Roxana Georgiana ,   Department of Obstetrics and Gynecology, Filantropia Clinical Hospital, Bucharest, Romania, Plotogea Mihaela ,   “Nicolae Malaxa” Clinical Hospital, Bucharest, Romania, Mehedintu Claudia ,   Department of Obstetrics and Gynecology, Filantropia Clinical Hospital, Bucharest, Romania,   Department of Neonatology, Filantropia Clinical Hospital, Bucharest, Romania
Published: December 2022

The clinical picture of headaches in pregnancy is a therapeutic challenge through the effects of drugs on the mother and fetus. Headache during pregnancy can be primary or secondary to a severe condition that can endanger the patient’s life (stroke, cerebral venous thrombosis, eclampsia, brain tumors, choriocarcinoma, subarachnoid hemorrhage). Differentiating the type of headache requires a series of investigations: electroencephalography, vascular ultrasound, brain MRI and MRI angiography, and contrast ophthalmoscopy. The evolution without treatment of this pain causes depression, stress, sleep deficit, and malnutrition with disastrous consequences for the mother and fetus. Therapeutic management for the treatment of headaches should be initially non-pharmacological, and low-risk fetal drugs should be used in the absence of a response.
Tromboelastografía en el manejo de la paciente obstétrica
Authors: Reyes Osvaldo
Published: December 2022

La mortalidad materna varía mucho a nivel mundial, siendo más alta en países en vías de desarrollo o en áreas rurales. Las medidas tomadas a nivel local y global que estén dirigidas a reducir esta brecha y la mortalidad materna como tal son de un valor incalculable, pero a pesar de contar con la tecnología y los medicamentos requeridos, su uso no se traduce en una reducción evidente en término de muertes. Una de las condiciones con mayor prevalencia es la hemorragia postparto, la cual ocupa el primer lugar en muchos países y se cita como una de las tres primeras causes a nivel mundial.

Hay muchas guías relacionadas con el manejo de la hemorragia postparto, pero en la mayoría se deja por fuera o se menciona poco la utilidad de una herramienta disponible y relativamente económica, como lo es la tromboelastografía. En este artículo discutiremos la misma, sus fortalezas y debilidades, así como el papel que puede tener la misma en el manejo de la paciente que se presenta con esta condición.
Encefalopatia de Wernicke por hiperemesis gravidica, presentacion de un caso clinico
Authors: Yard Yamilka , Martinz Adriana
Published: December 2022

Introducción: La hiperémesis gravídica (HG) es una condición frecuente en el embarazo, que puede resultar en complicaciones potencialmente letales como la encefalopatía de Wernicke (EW), un trastorno neurológico agudo caracterizado por una triada de oftalmoplejía, ataxia y trastornos de la actividad mental o de la conciencia, síndrome que al ser reconocido y tratado tardíamente puede traducirse en una alta morbimortalidad materna y fetal. Objetivo: Proveer a los especialistas de información actualizada sobre hiperémesis gravídica, y el desarrollo de consecuencias potencialmente mortales como la encefalopatía de Wernicke. Materiales y métodos: Se realizó una revisión de la literatura sobre el tema en artículos originales y revisiones publicadas en las bases de datos de PubMed, Scielo y Google Scholar, en idiomas español e inglés en los últimos 5 años, con las palabras clave embarazo, hiperémesis, Encefalopatía de Wernicke.

Análisis y síntesis de la información: No se encontró un concepto definido para “encefalopatía de Wernicke en embarazadas”, ni un protocolo de manejo para esta patología en embarazadas. Resultados: se encontraron 12 resultados en Pubmed, 3 en Scielo y 444 en Google Scholar de los cuales 45 estaban relacionados directamente con el tema. Conclusiones: La clave en el manejo de esta patología está en la identificación temprana de los signos y síntomas sugestivos de Encefalopatía, debido a que las pacientes en estado de gravidez presentan características propias del embarazo convirtiéndose en una población en riesgo de complicaciones potencialmente letales. Por estos motivos el diagnóstico y tratamiento oportuno son imprescindibles para disminuir el riesgo de secuelas neurológicas que puedan limitar la calidad de vida u ocasionar la muerte.
EMILE ZOLA’NIN NANA ESERI ILE HÜSEYIN RAHMI GÜRPINAR’IN MÜREBBIYE ESERLERI ÜZERINE KARŞILAŞTIRMALI BIR İNCELEME
Authors: Kösteloğlu Zeynep
Published: December 2022

Toplumlarda cinsiyet rollerinin dağılımı geçmişten bugüne geleneksel yapısını korumaktadır. Bireyler tarafından cinsiyet rollerinin algılanışı sosyolojik yapının getirisi olduğu gibi, özümsenen bu roller bireylerin psikolojik yapılarını da ilgilendirmektedir. Bu çalışmada Émile Zola’nın Nana eseri ile Hüseyin Rahmi Gürpınar’ın Mürebbiye eseri mercek altına alınacaktır. Metinlerdeki bilinen toplumsal cinsiyet rollerinin dışına çıkan karakterlerin, sosyolojik yapının etkisi altında kalan ruh halleri irdelenecektir. Toplumsal cinsiyet faktörünün yanı sıra karakterlerin olaylar karşısındaki ruhsal durumları da dile getirileceği için bu çalışmada eserlere, sosyolojik eleştiri ve psikanalitik eleştiri yöntemleri kullanılarak, eklektik inceleme yöntemiyle yaklaşılacaktır.
Çalışmanın sınırlılığını, Nana ile Mürebbiye oluşturmaktadır. İki eser de, birbirine yakın dönemde yaşamış ve natüralist olan yazarlar tarafından kaleme alınmış olmakla beraber, bilindik toplumsal cinsiyet rollerine uymayan karakterlerin arasındaki ilişkileri ve gücün el değiştirmesi fikrini içermektedir. Zola, Fransız toplumunun modernleşme sürecindeki buhranını Nana’da, toplumsal cinsiyet rollerinin, bireyselliğin de ön plana çıkmasıyla kökten değişimi üzerinden aktarırken, Gürpınar, Mürebbiye’de yine benzer şekilde Türk toplumunun modernleşmeyi batılılaşmak olarak ele alışını ve bu durumun yarattığı mevcut toplumsal değerlere yönelik bir yabancılaşma halini ve toplumsal cinsiyet rolleri açısından değişimini göstermektedir. Çalışmada, eserlerin geçtiği dönemlerde, bireylerin toplumsal cinsiyet rollerine bir başkaldırısının söz konusu olduğu ve bunun yalnızca kadının değişimi değil, erkeğin de değişimini içermekte olduğu sonucuna ulaşılacaktır.
Dos tesis sobre la divulgación de la filosofía
Authors: Bazan Ignacio , Priani Ernesto
Published: December 2022

En este artículo buscamos contextualizar la situación actual de la divulgación de la filosofía en México e identificar problemas que consideramos más importantes de atender en la actualidad. Para enfrentarlos sostenemos dos tesis. La primera, que no toda reflexión filosófica es divulgable. Segunda, que hay que ser estratégicos en el uso de la palabra filosofía. Como corolario a estas tesis, sostendremos que favorece la comunicación de la filosofía su adecuación a los referentes culturales en el que se mueven las diferentes audiencias, así como el reconocimiento de los prejuicios que estas puedan tener en relación con la reflexión filosófica.
Equivalent Integrable Metrics on the Sphere with Quartic Invariants
Authors:   St. Petersburg State University, Russia, Tsiganov Andrey V.
Published: December 2022

We discuss canonical transformations relating well-known geodesic flows on the cotangent bundle of the sphere with a set of geodesic flows with quartic invariants. By adding various potentials to the corresponding geodesic Hamiltonians, we can construct new integrable systems on the sphere with quartic invariants.
A Six Year, Low-resolution, Multibroadband Transit Photometry Study of HD 189733b
Authors: Gardner-Watkins Cristilyn N. , Kobulnicky Henry A. , Jang-Condell Hannah , Kasper David H. , Parker Brock A. , Bucci Ted , Cook Evan M. , Doublestein Kaitlin A. , Freels Cade , Galloway Dax G. T. , Helck Sabrina , Komlodi Corinne , Lindman Michael J. , Lyon McKell , Piccone Ashley N. , Wilkerson Samantha
Published: December 2022

Transmission spectroscopy offers an invaluable opportunity to characterize the atmospheres of exoplanets. We present new ground-based optical transmission spectra of the hot Jupiter HD 189733b, derived from nine transits observed over a six year time span (2016–2021) using near-simultaneous

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broadband observations. We achieve an average (best) precision of 435 (280) ppm by implementing an optical diffuser on the prime focus spectrograph from the 2.3 m Wyoming Infrared Observatory telescope. The data provide new measurements of the apparent planetary radius with respect to the stellar radius, the spectral index of atmospheric opacity, and the time variability of the two quantities. Our results indicate an enhanced spectral slope in the optical regime ≈2.4 times steeper than would be expected from canonical Rayleigh scattering and that is consistent with earlier measurements of a super-Rayleigh slope (SRS). While the effect of stellar activity on the transmission spectrum complicates the measurement of the spectral slope, our multiepoch data set over six years can measure and average over stellar variations, yielding a mean spectral index of −9.9 ± 4.4. The 1200 K equilibrium temperature of HD 189733b places it in a sweet spot for the formation of SRSs and is consistent with vigorously mixing hazes in the atmosphere. Additionally, we find variations in the depth of the lightcurve during two of the transits, explainable as an increase in occulted star spots during June 2021. Although the star is active, the mean level of stellar activity does not seem to vary dramatically over our six years of observations, leading us to conclude that the variability in stellar activity is modest at most.
Modeling Gamma-Ray Burst Afterglow Observations with an Off-axis Jet Emission
Authors: Fraija N. , Galvan-Gamez A. , Betancourt Kamenetskaia B. , Dainotti M. G. , Dichiara S. , Veres P. , Becerra R. L. , do E. S. Pedreira A. C. Caligula
Published: December 2022

Gamma-ray bursts (GRBs) are fascinating extragalactic objects. They represent a fantastic opportunity to investigate unique properties not exhibited in other sources. Multiwavelength afterglow observations from some short- and long-duration GRBs reveal an atypical long-lasting emission that evolves differently from the canonical afterglow light curves favoring the off-axis emission. We present an analytical synchrotron afterglow scenario and the hydrodynamical evolution of an off-axis top-hat jet decelerated in a stratified surrounding environment. The analytical synchrotron afterglow model is shown during the coasting, deceleration (off- and on-axis emission), and post–jet break decay phases, and the hydrodynamical evolution is computed by numerical simulations showing the time evolution of the Doppler factor, the half-opening angle, the bulk Lorentz factor, and the deceleration radius. We show that numerical simulations are in good agreement with those derived with our analytical approach. We apply the current synchrotron model and successfully describe the delayed nonthermal emission observed in a sample of long and short GRBs with evidence of off-axis emission. Furthermore, we provide constraints on the possible afterglow emission by requiring the multiwavelength upper limits derived for the closest Swift-detected GRBs and promising gravitational-wave events.
Protokoll der Jahresversammlung der Schweizerischen Entomologischen Gesellschaft vom 20. und 21. Mai 2022 am Museo cantonale di storia naturale Lugano
Authors: Neumann Marc
Published: December 2022

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Vertu de la timidité
Authors: Chavarot Jean-Marc
Published: December 2022

La timidité est une anxiété sociale d’intensité légère. C’est un trouble fréquent, qui se manifeste dans des circonstances variables suivant les personnes. Or si on aborde ce trouble, comme l’ensemble des troubles psychiques en général, suivant son phénomène, c’est-à-dire son impression même, et non pas comme symptôme, il ouvre sur un sens existentiel et social. Il se comprend comme sensibilité à l’événement de l’existence, tel qu’il se délivre et se joue dans le champ des relations humaines. Il révèle une situation : celle de la vie sociale même dans son mystère, mais aussi dans sa violence…
Projecting social contact matrices to populations stratified by binary attributes with known homophily
Authors: Kadelka Claus
Published: December 2022

Contact networks are heterogeneous. People with similar characteristics are more likely to interact, a phenomenon called assortative mixing or homophily. Empirical age-stratified social contact matrices have been derived by extensive survey work. We lack however similar empirical studies that provide social contact matrices for a population stratified by attributes beyond age, such as gender, sexual orientation, or ethnicity. Accounting for heterogeneities with respect to these attributes can have a profound effect on model dynamics. Here, we introduce a new method, which uses linear algebra and non-linear optimization, to expand a given contact matrix to populations stratified by binary attributes with a known level of homophily. Using a standard epidemiological model, we highlight the effect homophily can have on model dynamics, and conclude by briefly describing more complicated extensions. The available Python source code enables any modeler to account for the presence of homophily with respect to binary attributes in contact patterns, ultimately yielding more accurate predictive models.
Transfer Learning in Keratoconus Classification
Authors: Aatila Mustapha , Lachgar Mohamed , Hrimech Hamid , Kartit Ali
Published: December 2022

Early detection of keratoconus will provide more treatment choices, avoid heavy treatments, and help stop the rapid progression of the disease. Unlike traditional methods of keratoconus classification, this study presents a machine learning-based keratoconus classification approach, using transfer learning, applied on corneal topographic images. Classification is performed considering the three corneal classes already cited : normal, suspicious and keratoconus. Keratoconus classification is carried out using six pretrained convolutional neural networks (CNN) VGG16, InceptionV3, MobileNet, DenseNet201, Xception and EfficientNetB0. Each of these different classifiers is trained individually on five different datasets, generated from an original dataset of 2924 corneal topographic images. Original corneal topographic images have been subjected to a special preprocessing before their use by different models in the learning phase. Images of corneal maps are separated in five different datasets while removing noise and textual annotation from images. Most of models used in the classification allow good discrimination between normal cornea, suspicious and keratoconus one. Obtained results reached classification accuracy of 99.31% and 98.51% by DenseNet201 and VGG16 respectively. Obtained results indicate that transfer learning technique could well improve performance of keratoconus classification systems.
Control of an Exoskeleton for Lower Limb Rehabilitation Using ANFIS
Authors: Arabiat Ayeh , Matahen Mohammad , Abu Zaid Omar , Zgoul Moudar
Published: December 2022

Exoskeletons are powered robotic devices designed to be worn by humans to provide physical assistance or power augmentation. In this work, a control system for a powered exoskeleton is designed. This exoskeleton is aimed at aiding in the rehabilitation of Spinal Bifidas. Spinal Bifida is the most common disability in childhood after Cerebral Palsy, it is a defective development of the spinal cord during conception. Two phases for this work are presented: system identification and control using ANFIS. While it is difficult to attain an accurate dynamical model of complex system, this work employed ANFIS to help control and stabilize the system. Gait trajectories were obtained by modeling the system as a linear inverted pendulum, a simulation was performed with a traditional controller. Afterwards, trajectory data was obtained and used to train and test ANFIS to create the model and controller. One, two and three inputs were investigated to train the ANFIS. Results showed that the one-input model visibly failed to follow the trajectory. The average RMSE for the two-input model was 0.096, and for the three-inputs, the RMSE on average was higher; 0.19, making it worse, however the knee model contrastingly showed improvement, as the RMSE was lower by 2% for the knee specifically.
Exploring diatom diversity through cultures - a case study from the Bow River, Canada
Authors: Skibbe Oliver , Abarca Nelida , Forrest Francine , Werner Petra
Published: December 2022

Diatom cultures can help answer taxonomic, biogeographic and ecological questions on a local and global scale. Unialgal cultures are derived from a single cell and provide abundant material for morphological and molecular analyses. The link between the historic morphological species concept and the molecular data is becoming increasingly important with the use of eDNA metabarcoding. Additionally, cultures provide insights into the life cycle of diatoms and thereby complement taxonomy and species ecology. In this study, we present an approach to extract benthic diatoms from an environmental sample to generate unialgal cultures. We explored diatom diversity in preserved assemblages and by culturing as many different taxa as possible from benthic freshwater samples taken on the same day from the Bow River in Calgary, Canada. With both methods we found a total of 221 different benthic diatom taxa, of which 182 were identified in the preserved diatom assemblages. Interestingly, an additional 39 taxa only appeared in the cultures. In total 129 strains were cultivated representing 71 different taxa. This study includes pictures of living cells demonstrating the additional merits of unialgal cultures, as they provide information on plastid details, auxospores and endosymbionts. Both, the identification of the diatom assemblages and the generation and identification of strains provide the foundation for additional water quality assessment tools, taxonomic insights and molecular references libraries.
Effect of demographic factors, anthropometric factors, and comorbid diseases on recovery in the Bell's palsy subjects – A correlation study
Authors: Desai Sonali , Limbasiya Rajiv
Published: December 2022

OBJECTIVES:

Bell's palsy is a condition of unilateral facial paralysis with the recovery rate varying from person to person. Various factors influence the prognosis of Bell's palsy subjects. Hence, the aim of this research was to examine the relationship between recovery of Bell's palsy and demographic, anthropometric, and the presence of comorbid diseases.

METHODOlOGY:

A correlation study was conducted on a total of 70 (both male and female) subjects. Independent outcome measures were age, gender, side, height, weight, body mass index, presence of diabetes, hypertension, and dyslipidemia. Dependent outcome measure was Sunnybrook Facial Grading System which grades the recovery following Bell's palsy. Outcome measures were taken at baseline, after 20 days, and after 1 month.

RESULTS:

Statistical analysis indicates that age, weight, diabetes, hypertension, and dyslipidemia have a significant correlation with recovery in Bell's palsy patients.

CONCLUSION:

The positive correlation between weight and recovery indicated that low weight leads to delayed recovery. A negative correlation of recovery with age, diabetes, hypertension, and dyslipidemia indicates that increased age leads to delayed or incomplete recovery and the presence of comorbid diseases leads to delayed/incomplete recovery.
Analysis of aerobic exercise influence on intraocular pressure and ocular perfusion pressure in patients with primary open-angle glaucoma: A randomized clinical trial
Authors: Ma Qiu-Yan , Zhou Jian , Xue Yu-Xin , Xia Yan-Ting , Wu Jian-Guo , Yang XYing-Xin
Published: December 2022

Purpose:

To investigate the change pattern of ocular perfusion pressure (OPP) and intra-ocular pressure (IOP) after short-term and long-term aerobic exercise.

Methods:

In this prospective, single-masked, randomized clinical trial, 123 patients with a primary open angle glaucoma that locally used prostaglandin analog alone were randomly divided into the exercise and control groups. In the short-term study, all individuals underwent a cycling exercise at moderate intensity (20% Wmax for 10 minutes) and high intensity (60% Wmax for 5 minutes). During the long-term study, the exercise group is characterized by regular jogging exercise lasting for 30 minutes during 6: 00–10: 00 in the morning for 3 months, with the exercise frequency of at least 20 times per month, and with the intensity reflected by the target heart rate. The control group is designed as a group with irregular exercise.

Results:

After short-term aerobic exercise, IOP significantly decreased, whereas the ocular perfusion pressure (OPP) significantly increased. The decreasing amplitude of IOP is related to the baseline of IOP, the intensity of exercise, gender, and so on. After 3 months of long-term exercise, the changes in the IOP level of the exercise group indicated a decreasing trend.

Conclusion:

The significant decrement of IOP and the increment of OPP suggest that aerobic exercise is beneficial for patients with primary open-angle glaucoma and appropriate aerobic exercise is appropriate in treating glaucoma patients.

Trial registration:

ChiCTR, ChiCTR-TRC-10001055. Registered one October 2010-Retrospectively registered, http://www.chictr.org.cn/showproj.aspx?proj = 8483
Clinical presentation and treatment outcomes of an algorithmic approach to uveal effusion syndrome
Authors: Desai Arjun , Parameswarappa Deepika C , Senthil Sirisha , Jayanna Sushma , Pappuru Rajeev Reddy , Jalali Subhadra , Rani Padmaja Kumari
Published: December 2022

Purpose:

To describe the clinical features and treatment outcomes in spontaneous uveal effusion syndrome (UES).

Methods:

A 10-year retrospective chart review of UES patients from a tertiary eye center was carried out. Optical coherence tomography (OCT), fundus fluorescein angiography, and ultrasound biomicroscopy (UBM) scans were performed. UES was managed based on presenting best-corrected visual acuity (BCVA), symptoms, and fundus findings. Patients with secondary causes of uveal effusion were excluded.

Results:

Twenty-five eyes of 16 patients were included. Of the 16 patients, 14 (88%) were male and 9 (56%) had bilateral disease. Fifteen of 25 affected eyes had nanophthalmos (axial length (AL) <20.5 mm) and 6 had hyperopia with AL >20.5 mm. The presenting mean distance BCVA was 0.74 ± 0.64 logMAR (mean Snellen: 20/100). Eleven eyes had exudative retinal detachment, and 4 also had exudative choroidal detachment (CD). Choroidal thickness (CT) was increased in 11 eyes on B-scan ultrasonography, and the mean CT was 1.74 ± 0.38 mm. Sub-retinal fluid (SRF) and retinal folds were the most common OCT findings. UBM findings included shallow angles, peripheral CD, and supra-ciliary effusion. A combination of local and systemic corticosteroids was used to successfully treat 12 eyes, 6 needed surgery, and 7 were observed. Partial sclerectomy with anterior chamber maintainer-assisted SRF drainage was the favored surgery. The median period of follow-up was 6.5 months (0.1–76 months), and the mean distance BCVA at the last follow-up was 0.58 ± 0.42 logMAR (mean Snellen: 20/80).

Conclusion:

UES can be suitably managed both medically and surgically based on clinical presentation.
Assessment of changes in optic disc parameters and peripapillary retinal nerve fiber layer thickness in myopic patients and its correlation with axial length and degree of myopia
Authors: Mishra Alpana , Pattnaik Lolly , Mishra Suchismita , Panigrahi Pradeep Kumar , Mohanty Smaraki
Published: December 2022

Purpose:

The present study aimed to assess the changes in optic disc and peripapillary retinal nerve fiber layer (RNFL) parameters in myopic patients and its correlation with axial length (AL) and spherical equivalent (SE) using optical coherence tomography (OCT).

Methods:

This was a cross-sectional study carried out from August 2019 to September 2021 in the ophthalmology department of a tertiary care hospital in eastern India. Myopic patients in the age group of 20–40 years and SE between − 0.5 to − 10 Diopters (D) were included in the study. Patients were divided into two groups on the basis of degree of myopia and AL. Appropriate statistical analysis was done at the end of the study period.

Results:

The study included 307 eyes of 307 myopic patients. There were 181 females (58.96%) and 126 males (41.04%). The mean age of the patients enrolled for the study was 28.78 ± 5.76 years. Statistically significant difference (P < 0.001) was found between SE and AL in between the subgroups of A and B. With every 1 D increase in SE, the average peripapillary RNFL thickness decreased by 0.61 m while with every 1 mm increase in AL, the average peripapillary RNFL thickness was found to reduce by 1.03 m.

Conclusion:

Analysis of optic nerve head parameters and RNFL thickness by OCT for the diagnosis should be compared with a normative control group that has been matched for refractive error and AL instead of comparison with a normative database that has only been age matched.
A review of techniques and outcomes of endothelial keratoplasty in congenital hereditary endothelial dystrophy
Authors: Mandal Sohini , Asif Mohamed I , Maharana Prafulla K , Sharma Namrata , Titiyal Jeewan S
Published: December 2022

Congenital hereditary endothelial dystrophy affects the Descemet membrane and endothelium, resulting in corneal decompensation. Penetrating keratoplasty (PKP) has been the gold-standard surgical management until recently; however, at present, endothelial keratoplasty (DSEK/DSAEK/n-DSEK: Descemet-stripping or non-Descemet stripping endothelial keratoplasty and DMEK/n-DMEK: Descemet membrane endothelial keratoplasty) is being preferred due to lesser intraoperative and postoperative complications, early visual recovery, and comparable visual outcomes. Endothelial keratoplasty (EK) can be challenging, especially in pediatric eyes with CHED due to smaller eyeballs, shallow anterior chambers, phakic status, and poor intraoperative visibility due to thick and hazy corneas. A total of 198 articles matched our search strategy. After screening for duplication and going through the titles and abstracts, 12 relevant original articles, one case series, and six case reports were included in this review. Various surgical modifications have to be adopted in comparison to adult eyes to overcome the aforementioned difficulties. Regardless, studies have shown favorable visual outcomes with better graft survival and fewer complications in eyes that underwent EK compared to PKP. Hence, timely surgical intervention and strict amblyopia management can result in better final visual outcomes. The purpose of this review is to summarize various intraoperative difficulties and the surgical modifications required, different surgical techniques, visual and graft-related outcomes, and various complications of EK in CHED eyes.
Long-term real-world outcomes in retinal vein occlusions: How close are we to the trials?
Authors: Shah Payal Naresh , Shanmugam Mahesh Palanivelu , Vora Ushma Bimal , Agrawal Surbhi , Sirivella Indrani , Suryakanth Shwetha , Jayasingh Ramya
Published: December 2022

Purpose:

To assess and analyze the visual outcomes of patients with retinal vein occlusions in a real-world setting with a long-term follow-up of more than 5 years.

Methods:

Retrospective analysis of 56 patients having retinal vein occlusions from a tertiary eye center, with a mean follow-up of 7 years was performed. Primary outcome measures were mean change in best-corrected visual acuity (BCVA) from baseline at 6 months, 1 year, 2 years, 3 years, and final visit (≥5 years), proportion of patients having BCVA better than 20/40 and worse than 20/200, and mean number of injections. Secondary outcome measures were change in central macular thickness (CMT), development of subsequent retinal vein occlusion (RVO) in same eye or the other eye, and development of neovascular complications.

Results:

The mean change in letter score was + 11.84 in branch RVO (BRVO), +7.14 in non-ischemic central RVO (CRVO), and −9.5 in ischemic CRVO at 1 year, which changed to + 8.57, −5 and − 24, respectively, at the end of follow-up. CMT had improved from 506 ± 98.8 mm, 576.44 ± 149 mm, and 618 ± 178.27 mm, respectively, at baseline to 267 ± 94 mm, 345.20 ± 122.61 mm, and 265.50 ± 107.75 mm, respectively, in BRVO, non-ischemic, and ischemic hemi RVO (HRVO)/CRVO groups. The total mean number of injections given in BRVO, non-ischemic CRVO, and ischemic CRVO groups were 4.6, 6.6, and 4.1, respectively. None of the patients with BRVO developed neovascular glaucoma (NVG). Non-ischemic to ischemic HRVO/CRVO conversion was noted in 4/11 eyes at a mean duration of 12.6 months. NVG was noted in 7/9 eyes (77.8%) in initial ischemic CRVO/HRVO group and 3/4 (75%) converted eyes.

Conclusion:

Patients with BRVO have good visual outcomes with anti-VEGF, while in CRVO results may vary considerably owing to patient compliance and treatment burden on long-term follow-up in a real-world setting.
Do motivational cards really benefit sibling screening of primary open-angle glaucoma probands?
Authors: Gurnani Bharat , Srinivasan Kavitha , Venkatesh Rengaraj , Kaur Kirandeep
Published: December 2022

Purpose:

To compare the impact of Sibling Motivational Card (SMC) and oral counseling in screening siblings of primary open-angle glaucoma (POAG) probands.

Methods:

Two hundred and thirty-four newly diagnosed POAG probands were randomized to receive either oral counseling or SMC to motivate their siblings for a glaucoma screening at a tertiary eye care hospital in South India from July 2015 and June 2017. A total of 116 probands were orally counseled with a standard template of dialogs about the importance of family screening to motivate their siblings for a screening. One hundred and eighteen probands were randomized to receive SMC, bearing the details of the proband, sibling, and a message stressing the importance of family screening, in addition to oral counseling. We assessed the response rate in each group. Additionally, we evaluated the prevalence of POAG in the siblings.

Results:

A total of 95 siblings of 234 POAG probands were screened. The mean age distribution was 53.33 ± 10.9 years (range 28–79 years). The male to female ratio was 3:4. The percentage of siblings screened was more in the oral counseling group (63.2%) than in the SMC group (36.8). About 43 (45%) siblings had some form of glaucoma, and 13.6% had POAG. An additional 22.1% were disk suspects, and 5.2% had ocular hypertension.

Conclusion:

SMC did not have an additional benefit over the standard oral counseling in promoting sibling screening. Our study stresses the importance of sibling screening in POAG probands. Targeting siblings of POAG probands with oral counseling may offer a relatively inexpensive way of detecting glaucoma.
A comparative analysis of surgical outcome in uveitic and non-uveitic steroid–induced glaucoma in children
Authors: Balekudaru Shantha , Shah Deep , Lingam Vijaya , George Ronnie , George Amala Elizabeth , Ganesh Sudha K , Biswas Jyotirmay , Majumder Parthopratim Dutta , Baskaran Mani
Published: December 2022

Purpose:

To compare outcomes of surgical management of uveitic glaucoma (UG) and steroid-induced glaucoma (SIG) in children in terms of intraocular pressure (IOP) control, visual acuity, and associations for failure.

Methods:

This was a retrospective case–control study of consecutive UG (cases) and non-uveitic SIG (controls) in children <18 years of age who underwent surgery between January 2005 and December 2017.

Results:

Primary trabeculectomy with mitomycin C (MMC) was performed in 12 cases (mean age: 9.2 ± 4.3 years) and 40 controls (mean age: 10.4 ± 3.7 years) (P = 0.33). Primary phaco-trabeculectomy with MMC was performed in 11 cases (mean age: 11.4 ± 4.7 years) and 16 controls (mean age: 10.4 ± 3.4 years) (P = 0.57). IOP control (P = 0.26), visual acuity (P = 0.97), number of glaucoma medications (P = 0.06), and survival rates (49% cases vs. 68% controls at 5 years; P = 0.22) were similar between the two groups following trabeculectomy. Survival rates in the phaco-trabeculectomy group at 5 years were 68% cases vs. 69% controls (P = 0.71). IOP was higher (P = 0.008) and visual acuity was worse (P = 0.02) in cases at the last visit. Associations for failure (univariate analysis) were younger age (OR: 6.29, 95% CL: 1.43, 27.67; P = 0.03) and male gender (OR: 4.79, 95% CL: 1.09, 20.97; P = 0.04). On multivariate analysis, younger age (OR: 11.985, 95% CL: 1.071, 134.153; P = 0.04) remained significant. Preoperative number of uveitic attacks was protective on univariate (OR: 0.75, 95% CL: 0.48, 1.15; P = 0.1) and multivariate analyses (OR: 0.49, 95% CL: 0.24, 0.09; P = 0.04).

Conclusion:

Outcomes of trabeculectomy between cases and controls were similar in our series. However, phaco-trabeculectomy in pediatric uveitic eye group fared worse than eyes with SIG.
Note-taking and note-making: The ever-cherished art!
Authors: Nachiappan Sivagami
Published: December 2022

In the medical field where the volume of information to be studied and reproduced is enormous, note taking and note making becomes an integral part of an effective learning process. Not only does it simplify the learning process, it also eases last minute revision and improves presentation skills in examinations. Knowing when and where to begin taking notes, which topics to take notes on, and how to take notes is crucial before investing one’s quality time. Restructuring a content into a table, flowchart, or an illustrative figure depicts your understanding and hard work. It can fetch more marks and save time during examination. It becomes a prerequisite to attain guaranteed success.
Anterior segment optical coherence tomography characteristics and management of a unique spectrum of foreign bodies in the cornea and anterior chamber
Authors: Bhargava Mona , Bhambhani Varsha , Paul Raj S
Published: December 2022

Purpose:

To report anterior-segment optical coherence tomography (ASOCT) characteristics of different types of corneal and anterior chamber (AC) foreign bodies (FBs) and their usefulness in diagnosis and management.

Methods:

This is a retrospective descriptive clinical study involving 11 eyes of 11 patients who presented at the outpatient department of a tertiary ophthalmic care center from January 2017 to January 2022. All patients had a diagnosed or suspected corneal FB. All participants underwent a comprehensive ophthalmological examination, followed by slit-lamp photography and ASOCT. FB removal was done where required by an external, internal, or combined approach.

Results:

The mean age of patients was 28.2 (7–53) years. Ten were male, and one was female. Seven patients had a definitive positive history of injury; in one, there was a history suggestive of trauma, one had the post-operative complication of scleral buckling surgery, and two patients had a history of insect fall in the eyes. Three patients had acute, four had sub-acute, and four had chronic presentations. Descemet’s membrane (DM) breach was suspected in three cases of deep FB, which was later confirmed on ASOCT. In two cases, DM was presumed to be intact clinically, but ASOCT showed an AC penetration. The FB was removed in seven patients, one via slit-lamp, one via an external approach, two via an internal approach, and three via a combined approach.

Conclusion:

ASOCT facilitates non-invasive rapid imaging of ocular tissue at various depths, provides an accurate assessment of FB characteristics, and thereby serves as an additional tool in our armamentarium for diagnosis and management of deep corneal and AC FBs.
Clinical characteristics of congenital and developmental cataract in Kazakhstan
Authors: Kabylbekova Aliya , Meirmanov Serik , Aringazina Altyn , Orazbekov Lukpan , Auyezova Ardak
Published: December 2022

Purpose:

To study and describe clinical characteristics of congenital and developmental cataract at a tertiary eye care facility.

Methods:

In this retrospective study, 942 children (1311 eyes) presenting with congenital/developmental cataract over a 10-year study period were included. Gender, age at surgery, main presenting complaint, morphologic type of cataract, laterality, family history, and associated findings were recorded.

Results:

The overall proportion of boys and girls undergoing cataract surgery was approximately equal (P = 0.110). However, in the cases of bilateral cataract, the proportion of boys was larger than girls (P = 0.028). More than half (62.3%) of the patients underwent surgery at the age of >3 years. The main presenting complaint was white pupils, accounting for 48.1% of cases. Total cataract was the most common morphologic type in all age groups. In total, 133 children out of 942 (14.1%) had a positive family history of congenital/developmental cataract. Strabismus and nystagmus were seen in 27.2% and 19.3% of the eyes, respectively. Additional ocular dysmorphology was found in 97 (10.3%) of patients. Coexisting systemic disease was found in 149 (15.8%) cases. Among syndrome-associated cataracts, Down syndrome accounted for the majority of cases.

Conclusion:

High prevalence of total cataracts as well as frequent association with strabismus and nystagmus are likely to be the consequences of delayed presentation.
Clinical and demographic profile of patients less than 40 years of age presenting to glaucoma services at a tertiary care eye hospital in South India
Authors: Parab Aditi , Kavitha Srinivasan , Odayappan Annamalai , Venkatesh Rengaraj
Published: December 2022

Purpose:

To study the clinical and demographic profile of patients less than 40 years of age presenting to glaucoma services including the reasons for referral.

Methods:

Patients in the age group of 5 to 39 years, visiting the glaucoma clinic, who were either suspected to have glaucoma or who had been newly/previously diagnosed with glaucoma were included in the study. After informed written consent, basic demographic details of the participants including age, gender, education, socioeconomic status, and family history were obtained. A comprehensive ophthalmological evaluation was performed by glaucoma specialists.

Results:

The proportion of glaucoma in the study population (n = 384) was found to be 31.25%, and the incidence of glaucoma among new patients was found to be 11.9%. Among all glaucomas (n = 120), 44.2% of patients had secondary glaucomas, 27.5% had primary glaucomas, and 28.3% had congenital glaucomas. Also, 67.3% of all glaucoma patients were males. Newly diagnosed glaucoma patients presented with a mean intraocular pressure (IOP) of 32.9 mmHg and mild–moderate disc damage with a mean cup-disc ratio of 0.65. Nearly one-third of them had a presenting visual acuity worse than 5/60. The most common reason for referral was raised IOP. Univariate and multivariate analysis revealed that the odds of developing glaucoma were less in females (P = 0.04) and in patients with a higher standard of living index (P < 0.001).

Conclusion:

One-third of the patients had glaucoma and another one-third were suspects. Secondary glaucomas are more common than primary/congenital glaucomas. A comprehensive eye evaluation is a must, especially in those with predisposing factors.
Evaluation of Immunohistochemistry Technique for Diagnosis of Extrapulmonary Tuberculosis in Biopsy Tissue Specimen as Compared to Composite Diagnostic Criteria
Authors: Rao Pragati D. , Devi D. R. Gayathri , Gouri S. R. Mangala , Arjun A. S. , Krishnappa Lalitha , Azeem Abdul
Published: December 2022

Introduction:

Diagnosis of extrapulmonary tuberculosis (EPTB) has been challenging owing to its paucibacillary nature and diverse clinical manifestations. Immunohistochemistry (IHC) on biopsy specimens has presented a new perspective toward improving tuberculosis diagnosis. MPT64 is a unique antigen that has shown high sensitivity and specificity compared to other conventional techniques in its ability to diagnose tuberculosis as well as differentiate it from nontubercular mycobacteria. In this study, we aimed to analyze the utility of anti-MPT64 in the diagnosis of EPTB.

Methods:

In this cross-sectional study, conducted over a period of 1 year, 52 nonrepetitive samples from 52 participants with a presumptive diagnosis of EPTB were collected and processed. The specimens were subjected to Ziehl–Neelsen staining, GeneXpert, tissue culture by mycobacterium growth indicator tube, H and E staining, and IHC with anti-MPT64. The sensitivity and specificity of anti-MPT64 was computed against a composite diagnostic criterion.

Results:

Fifty-two consecutive participants satisfying the study criteria were recruited. The mean age of the study population was 37.35 ± 18.71 years. Lymph node specimen accounted for majority of the specimen processed (n = 20, 38.5%). The sensitivity of anti-MPT64 in the diagnosis of EPTB was 68.29%, specificity was 90.90%, positive predictive value was 96.55%, and negative predictive value was 43.47%, when composite criteria were considered standard for diagnosis.

Conclusion:

Immunohistochemical staining by anti-MPT64 is useful in establishing microbiological diagnosis of EPTB on biopsy specimens.
High Prevalence of Fungal and NDM-OXA Producing Gram-Negative Bacterial Superinfections in the Second Wave of Coronavirus Disease 2019 in India
Authors: Katoch Omika , Sharad Neha , Singh Parul , Srivastav Sharad , Aggrawal Richa , Malhotra Rajesh , Mathur Purva
Published: December 2022

Introduction:

During the second wave of coronavirus disease 2019 (COVID-19), superinfection caused by fungus and multidrug-resistant bacteria worsened the severity of illness in COVID-19 patients. Limited studies from India reported the antimicrobial resistance pattern of secondary infections. In this study, we aim to study the epidemiology of pathogens causing superinfections and genotyping of Gram-negative isolates in COVID-19 patients.

Methods:

This retrospective study was conducted at a dedicated COVID-19 center, India. The identification of bacteria/fungi was done by Vitek2® and matrix-assisted laser desorption/ionization-time of flight mass spectrometry system. Identification of beta-lactamase genes was done using thermal cycler. The diagnosis of mucormycosis was based on 10% potassium hydroxide direct microscopy. Statistical analyses were performed using STATA version 15.1 (StataCorp., College Station, TX, USA). For continuous variables, mean and standard deviation were computed. For comparing proportions of secondary infections across admission location and outcomes, the Chi-squared test of independence was used. To compare the mean and median between intensive care units and outcomes, an independent t-test and a Mann–Whitney test were used.

Results:

Of all the clinical samples, 45.4% of samples were cultured positive for secondary infections. Acinetobacter baumannii (35%) was the most common Gram-negative pathogen, while among Gram positive, it was Enterococcus faecium (40%). Among fungus, Candida spp. (61%) predominates followed by molds. Colistin and tigecycline proved effective against these pathogens. blaNDM
was the most prevalent gene followed by the blaOX
among the carbapenemase genes.

Conclusions:

The mortality rate among COVID-19 patients with secondary infection was significantly higher compared to the overall mortality rate in COVID-19 patients.