bluuebunny/crossref_metadata_2025_split huggingface dataset:
Facial Onset Sensory and Motor Neuronopathy-Like Syndrome: A Case Report
Authors: Bruss David M. , Venkataraman Prashanth , Mozaffar Tahseen 
Published: August 2022

Abstract

Objectives:
Facial onset sensory and motor neuronopathy syndrome (FOSMN) is a rare motor neuron disorder characterized by facial sensory and motor aberrations that progress to the upper limbs. We present a case of FOSMN-like syndrome that has characteristics of FOSMN but is confined to the craniofacial region.

Methods:
Retrospective chart review and review of the literature.

Results:
A 70-year-old woman presented with a 1-month history of progressive bilateral facial sensory loss and weakness affecting the trigeminal and hypoglossal nerves. Within 12 months, she developed debilitating weakness affecting her lower and midface bilaterally. After an extensive workup, a diagnosis of FOSMN-like syndrome was made, as symptoms failed to progress to the upper extremities.

Conclusions:
This case demonstrates a unique presentation of FOSMN that we classify as FOSMN-like syndrome. Clinicians must maintain a high index of suspicion when a patient presents with clinical features characteristic of FOSMN syndrome without progression of symptoms distal to the craniofacial region because it may represent a FOSMN-like syndrome.
Validation of Acute Pancreatitis Among Adults in an Integrated Healthcare System
Authors: Floyd James S. , Bann Maralyssa A. , Felcher Andrew H. , Sapp Daniel , Nguyen Michael D. , Ajao Adebola , Ball Robert , Carrell David S. , Nelson Jennifer C. , Hazlehurst Brian 
Published: August 2022

Background:
Acute pancreatitis is a serious gastrointestinal disease that is an important target for drug safety surveillance. Little is known about the accuracy of ICD-10 codes for acute pancreatitis in the United States, or their performance in specific clinical settings. We conducted a validation study to assess the accuracy of acute pancreatitis ICD-10 diagnosis codes in inpatient, emergency department (ED), and outpatient settings.

Methods:
We reviewed electronic medical records for encounters with acute pancreatitis diagnosis codes in an integrated healthcare system from October 2015 to December 2019. Trained abstractors and physician adjudicators determined whether events met criteria for acute pancreatitis.

Results:
Out of 1,844 eligible events, we randomly sampled 300 for review. Across all clinical settings, 182 events met validation criteria for an overall positive predictive value (PPV) of 61% (95% confidence intervals [CI] = 55, 66). The PPV was 87% (95% CI = 79, 92%) for inpatient codes, but only 45% for ED (95% CI = 35, 54%) and outpatient (95% CI = 34, 55%) codes. ED and outpatient encounters accounted for 43% of validated events. Acute pancreatitis codes from any encounter type with lipase >3 times the upper limit of normal had a PPV of 92% (95% CI = 86, 95%) and identified 85% of validated events (95% CI = 79, 89%), while codes with lipase <3 times the upper limit of normal had a PPV of only 22% (95% CI = 16, 30%).

Conclusions:
These results suggest that ICD-10 codes accurately identified acute pancreatitis in the inpatient setting, but not in the ED and outpatient settings. Laboratory data substantially improved algorithm performance.
DISTORTION RESOLUTION AFTER VITRECTOMY FOR MACULA-INVOLVING RETINAL DETACHMENT REPAIR
Authors: Casswell Edward J. , Yorston David , Lee Edward , Charteris David G. 
Published: August 2022

Purpose:
To investigate changes in subjective and objective distortion in the first 6 months after macula-involving retinal detachment repair.

Methods:
Post hoc analysis of the PostRD trial: a prospective, multicentered randomized controlled trial. Two hundred and sixty-two patients with macula-involving retinal detachments undergoing repair with vitrectomy and gas tamponade were asked to complete a distortion questionnaire and objective distortion assessment (D chart) 2 and 6 months postoperatively. Visual acuity, retinal displacement (measured with fundus autofluorescence imaging), and quality of life were also recorded.

Results:
Two months postoperatively 75.5% of patients reported subjective distortion, and this fell to 61.1% at 6 months. Over that period, distortion persisted in 56.5% of patients, resolved in 19.2%, and developed in 5.6%. Approximately one in four had resolution of their distortion by 6 months. The median overall and weighted D chart distortion scores fell between 2 and 6 months but 29% of patients had a worsening of D chart distortion score. D chart distortion scores were more closely correlated with amplitude of postoperative retinal displacement and quality-of-life scores in comparison with subjective distortion.

Conclusion:
Subjective distortion and objective distortion are common after macula-involving retinal detachment, but can improve over time. Objective measures of distortion were more closely correlated with quality of life and retinal displacement in comparison with subjective distortion.
WIDEFIELD SWEPT-SOURCE OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY FINDINGS IN WAGNER SYNDROME
Authors: Bleicher Isaac D. , Garg Itika , Hoyek Sandra , Place Emily , Miller John B. , Patel Nimesh A. 
Published: August 2022

Purpose:
To describe novel clinical and angiographic findings in Wagner syndrome.

Methods:
A retrospective case series of three related patients with Wagner syndrome. Patients underwent standard optical coherence tomography (OCT), B-scan ultrasonography, and fluorescein angiography in addition to wide field swept-source OCT angiography (WF SS-OCTA) (PLEX Elite 9000, Carl Zeiss Meditec Inc). Patients underwent genetic testing for a panel of hereditary vitreoretinopathies.

Results:
Three related patients with Wagner syndrome were identified. All were found to have prominent vitreous strands, abnormal vitreoretinal adhesions, peripheral retinal holes, and varying degrees of myopia. A mid-peripheral tractional ridge was identified in all six eyes. All patients were positive for a known pathologic intron variant in the VCAN gene (4004-5T-A). Wide field swept-source OCT angiography (12 mm × 12 mm) was performed in two patients and demonstrated perivascular capillary loss in the superficial capillary plexus along the arcades bilaterally. One patient demonstrated associated retinal atrophy within the area of capillary loss. The capillary loss extended beyond the margin of retinal atrophy.

Conclusion:
The unusual finding of a mid-peripheral tractional ridge of the retina associated with myopia led to a genetic diagnosis of Wagner syndrome. Widefield swept-source OCT angiography demonstrated a novel feature of perivascular loss of the superficial retinal capillary plexus. This result suggests that vitreous traction may cause localized microvasculature dysfunction and subsequent retinal atrophy in Wagner syndrome. This is the first known evaluation of Wagner syndrome using OCT angiography.
RIDGE-SHAPED PERIPAPILLA
Authors: Wakabayashi Taku , Yonekawa Yoshihiro , Ohno-Matsui Kyoko , Cohen Salomon Y. , Rowland Christina , Pulido Jose S. 
Published: August 2022

Purpose:
To report a case of peripapillary subretinal fluid associated with a ridge-shaped morphology surrounding the optic disk, which we termed ridge-shaped peripapilla.

Methods:
Case report.

Results:
A 6-year-old girl with mild-to-moderate myopia was referred for an abnormal fundus appearance of the left eye. Fundus examination of the left eye showed a vertical whitish elevation just temporal to the disk with pigment clumping. Spectral domain optical coherence tomography of the left eye showed an elevation of the fundus at the temporal edge of the disk with thinning of the choroid overlying the thickened scleral protrusion and a serous subretinal fluid. Fluorescein angiography of the left eye showed a hyperfluorescent area without leakage at the temporal edge of the disk, indicative of retinal pigment epithelium atrophy. There was no sign of choroidal neovascularization. Based on the fluorescein angiography and optical coherence tomography findings, the protrusion of the sclera seemed to result in overlying choroidal thinning with choroidal blood flow disturbances, and consequent retinal pigment epithelium atrophy, leading to the subretinal fluid.

Conclusion:
This case highlights an unusual presentation of ridge-shaped peripapilla, characterized by inward convexity of the peripapillary area with a ridge-shaped morphology and localized thickening of the peripapillary sclera, in eyes with myopia.
NEODYMIUM-DOPED YTTRIUM ALUMINUM GARNET LASER ABLATION OF INTERNAL LIMITING MEMBRANE TO TREAT MYOPIC MACULAR RETINOSCHISIS: CASE SERIES
Authors: Takahashi Hiroyuki , Uramoto Kengo , Ohno-Matsui Kyoko 
Published: August 2022

Purpose:
To evaluate the efficacy and safety of neodymium-doped yttrium aluminum garnet laser ablation of the internal limiting membrane (ILM) to treat myopic macular retinoschisis.

Methods:
Four patients with myopic myopic macular retinoschisis that extended out of the macular area were studied. All patients underwent yttrium aluminum garnet laser ablation of the detached ILM in the paramacular area, and the eyes were examined by ultra-widefield optical coherence tomography at the baseline and 6 months after the treatment. The measured outcomes were the foveal retinal thickness and the best-corrected visual acuity.

Results:
Neodymium-doped yttrium aluminum garnet laser was applied to the paramacular ILM in all four eyes. In each eye, the procedure failed to disrupt the ILM, and no significant changes were observed in foveal retinal thickness or best-corrected visual acuity subsequently. No serious adverse event occurred in all eyes. A transient intraretinal hemorrhage developed at the site of the application in two eyes but resolved within a week after the treatment.

Conclusion:
Neodymium-doped yttrium aluminum garnet laser was applied to ILM in the peripheral macula in eyes with myopic macular retinoschisis. However, the lack of a reduction of the foveal thickness and improvement of the best-corrected visual acuity indicate that accurate focusing system is needed to treat eyes with myopic macular retinoschisis.
RETINAL MANIFESTATIONS OF WALKER–WARBURG SYNDROME IN TWO SIBLINGS WITH RXYLT1 MUTATIONS
Authors: Jung Eric E. , Nagiel Aaron 
Published: August 2022

Purpose:
We report two siblings with genetically confirmed Walker–Warburg syndrome (WWS), studied with multimodal imaging, who presented with different retinal manifestations.

Methods:
This is a retrospective report of two WWS cases with ultra-widefield fundus photography, fluorescein angiography, and ultrasound. Molecular diagnosis was achieved using panel testing and targeted variant testing.

Results:
Two siblings, one male and one female, born 17 months apart with a diagnosis of WWS underwent retinal examination with imaging. The 3-month-old female infant exhibited microphthalmia, persistent hyaloidal arteries, and retrolental membranes with total tractional retinal detachments on ultrasound in both eyes. The 22-day-old male newborn exhibited persistent hyaloidal arteries and extensive peripheral avascular retina on angiography in both eyes. Both were found to be positive for the same two pathogenic variants in the RXYLT1/TMEM5 gene, which accounts for approximately 9% of cases of genetically confirmed WWS.

Conclusion:
Siblings with genetically confirmed WWS can have variable presentations despite identical genotype. This highlights the phenotypic disease spectrum of WWS, which may be similar to that seen in familial exudative vitreoretinopathy.
PRIMARY OCCLUSIVE PANVASCULITIS WITH SEGMENTAL PERIARTERIAL PLAQUES
Authors: Ngo Wei Kiong , Spaide Richard F. 
Published: August 2022

Purpose:
The purpose of this study was to describe a new clinical entity of bilateral occlusive panvasculitis with segmental periarterial plaques and its clinical course in two patients.

Methods:
This was a retrospective chart review.

Results:
Two patients with no medical history of any systemic inflammatory diseases presented with bilateral segmental periarterial plaques (Kyrieleis plaques), cotton wool spots, and microaneurysms. Segmental leakage, staining, and vascular occlusions involved the arterioles, venules, and capillaries. Leakage from the superficial capillary plexus in some areas bordering deep capillary plexus nonperfusion was observed. Both had recurrent episodes of vascular occlusions, normal brain MRI, and audiology tests. Complete workup including serology for infections, inflammatory markers, and antibody titers was unremarkable. They were started on with corticosteroids and immunosuppressant, and there were no further vascular occlusions. Both developed neovascularization adjacent to the areas of capillary nonperfusion. The second patient also developed vitreomacular traction and cystoid macular edema. He required intravitreal anti-VEGF injection, sector laser photocoagulation, and underwent a vitrectomy with membrane peeling. At the last visit, the visual acuity was 20/30 in both eyes for the first patient and 20/20 in the right eye and 20/40 in the left eye for the second patient, 12 and 6.5 years after initial presentation, respectively.

Conclusion:
Both patients presented with findings of bilateral panvasculitis with prominent segmental periarterial plaques and had repeated episodes of vascular occlusions before corticosteroid and immunosuppressants treatment, after which no additional occlusions were observed. We propose that the constellation of findings constitutes a novel clinical entity, occlusive panvasculitis with segmental periarterial plaques.
HYPERACUTE PSEUDOPHAKIC MACULAR EDEMA VANISHING WITHIN 72 HOURS: A CASE SERIES
Authors: Mori Tommaso , Cutrupi Francesco , Surico Pier Luigi , Sgrulletta Roberto , Di Zazzo Antonio , Coassin Marco 
Published: August 2022

Purpose:
To report three cases of massive pseudophakic macular edema occurring the day after uneventful cataract surgery and resolving in 24 to 72 hours.

Methods:
Observational case series.

Results:
A 68-year-old woman affected by systemic lupus erythematosus and antiphospholipid syndrome displayed massive macular edema on optical coherence tomography scan one day after uneventful cataract surgery. Routine postoperative topical eye drops (chloramphenicol/betamethasone 4 times a day and bromfenac 2 times a day) were continued without additional medications. Three days later, optical coherence tomography showed a completely recovered, normal fovea. Two similar cases were documented. A 73-year-old man and a 53-year-old man underwent cataract surgery and started the mentioned topical postoperative therapy. Severe macular edema was diagnosed the day after surgery and resolved in 24 and 48 hours, respectively.

Conclusion:
Massive macular edema may occur immediately after uncomplicated cataract and then disappear within 1 to 3 days, without invasive therapies. This is a very significant event that may follow cataract surgery, and that was previously unreported.
LISDEXAMFETAMINE (VYVANSE) USE ASSOCIATED WITH BRANCH RETINAL ARTERY OCCLUSION
Authors: Blair Kyle , Czyz Craig , Smithers Joshua , Yassall Anthony 
Published: August 2022

Background/Purpose:
Branch retinal artery occlusions (BRAO) are primarily associated with the aging population and are rare in young adults. The etiology of BRAO includes embolic or nonembolic sources. Lisdexamfetamine has been associated with vasospastic ischemic events in multiple areas of the body. However, there are currently no reported cases of BRAO associated with lisdexamfetamine use. Here, we present a case that suggests a correlation between lisdexamfetamine use and a nonembolic BRAO in a young adult man.

Methods/Results:
A 32-year-old man presented with sudden left eye blurred vision 17 days after beginning lisdexamfetamine. Fundus examination confirmed the BRAO diagnosis. Following evaluation by a retina specialist, vasospasm was considered the most likely cause for the BRAO. Other possible etiologies were unlikely due to diagnostic testing.

Conclusion:
The temporal association between lisdexamfetamine and BRAO symptom onset suggests vasospastic occlusion. Lisdexamfetamine-associated adverse events should be considered as a possible etiology for BRAO.
RETINAL VASCULAR DISEASE IN LIMB-GIRDLE MUSCULAR DYSTROPHY
Authors: Shaheen Abdulla R. , Yannuzzi Nicolas A. , Kennedy Thomas , Yannuzzi Lawrence A. 
Published: August 2022

Purpose:
To report bilateral retinal vascular occlusive disease in limb-girdle muscular dystrophy (LGMD).

Methods:
Case report.

Results:
A 34-year-old Asian woman was referred for evaluation and management of central retinal vein occlusion. Ultra-wide-field fluorescein angiography showed resolving initial peripheral retinal vein occlusion in one eye and peripheral venular segmental staining in the fellow asymmetric eye. Genetic testing established the diagnosis of LGMD.

Conclusion:
Similar to other forms of muscular dystrophy, LGMD is caused by genetic abnormalities in sarcolemma proteins, a key structural component that connects the intracellular cytoskeleton of a myofiber to the extracellular matrix. Like other muscular dystrophies, LGMD may be associated with retinal vascular abnormalities noted. In this case, retinal vascular smooth muscle dysfunction was seen in LGMD, analogous to reported vascular abnormalities in other muscular dystrophies such as facioscapulohumeral dystrophy and Duchenne muscular dystrophy.
INTRARETINAL HUMAN AMNIOTIC MEMBRANE AFTER MACULAR HOLE REPAIR
Authors: Baradad-Jurjo María Carmen , Vela Segarra José Ignacio , Díaz-Cascajosa Jesús , Vilimelis Jaume Crespí , Bassaganyas Francisca 
Published: August 2022

Purpose:
To describe a unique complication of macular hole repair surgery using a subretinal human amniotic membrane plug.

Methods:
Retrospective, interventional case report.

Results:
A 71-year-old man presented with a chronic full-thickness macular hole in his left eye. Conventional 23-gauge pars plana vitrectomy with internal limiting membrane peeling and implantation of a subretinal human amniotic membrane plug was performed. In the postoperative period, centripetal growth of external retinal layers was observed under the plug. Six months after the surgery, the human amniotic membrane plug was completely integrated into the retina.

Conclusion:
This is the first reported case of intraretinal integration of a human amniotic membrane plug after macular hole repair surgery.
MULTIPLE EVANESCENT WHITE DOT SYNDROME FROM A PATIENT'S PERSPECTIVE
Authors: Bograd Alexandra , Munk Marion R. 
Published: August 2022

Purpose:
Multiple evanescent white dot syndrome is a self-limiting inflammatory condition of the outer retina. Only little information is available how patients experience their symptoms.

Method:
We report a case of a 28-year-old male graphic designer with multiple evanescent white dot syndrome, who precisely illustrated the development and course of the characteristic symptoms while looking at the ceiling, at a face and on his phone.

Result:
At onset, the scotoma was sparking/shiny and appeared on the temporal field of view, consistent with an enlarged blind spot. Over the course of the disease, the scotoma decreased in intensity and moved superiorly and nasally until it completely faded.

Conclusion:
Illustrations from a patient's perspective over the course of the disease can be beneficial for physicians and other multiple evanescent white dot syndrome patients for a better understanding and monitoring of their disease.
Management of an atypical case of post-operative endophthalmitis presenting as angle-closure glaucoma
Authors: Liao Albert , Xu Lucy T. , Yeh Steven , Yan Jiong 
Published: August 2022

Background/Purpose:
To report an atypical presentation of postoperative endophthalmitis after cataract surgery that initially presented as angle-closure glaucoma and to discuss challenges with the case management due to the unusual presentation and patient non-compliance.

Methods:
Observational case report. B-scan ultrasound and ultrasound biomicroscopy.

Results:
A 69-year-old Caucasian male with a 1-week history of uncomplicated cataract surgery was referred to our glaucoma clinic due to vision loss and concern for angle closure glaucoma. Anterior segment exam showed 360 degrees of flat anterior chamber (AC) with no hypopyon. A diagnosis of postoperative endophthalmitis was established when a B-scan ultrasound showed dense vitreous opacities. The patient underwent a pars plana vitrectomy (PPV), AC reformation, peripheral iridectomy, and intravitreal injection of antibiotics for treatment of endophthalmitis in the presence of an angle-closure glaucoma with good visual recovery.

Conclusion:
A low threshold for suspicion of endophthalmitis is needed after any routine intraocular procedure. An atypical presentation may masquerade as another pathology that delays the true diagnosis and treatment. Timely intervention in postoperative endophthalmitis is crucial in preserving vision.
Pay-for-Performance in the Massachusetts Medicaid Delivery System Transformation Initiative
Authors: Sefton Laura , Tierney Laxmi 
Published: August 2022

ABSTRACT
Pay-for-performance (P4P) is among the alternative payment models (APMs) that are designed to incentivize enhancements to healthcare efficiency and quality. Massachusetts' Office of Medicaid implemented a delivery system transformation initiative (DSTI) through an 1115(a) Demonstration Waiver to support and incentivize seven safety net hospitals to implement clinical care changes and transition to risk-based APMs. Comparative case study design was used to describe achievement of hospital-specific clinical and operational measures. Qualifying hospitals implemented 47 projects across three categories: (1) development of a fully integrated delivery system, (2) health outcomes and quality, and (3) ability to respond to statewide transformation to value-based purchasing and to accept alternatives to fee-for-service payments that promote system sustainability. Projects commonly focused on care transitions improvements, physical and behavioral healthcare integration, and chronic disease care management interventions. Collectively, the hospitals met all or most of 60 population-focused improvement measures and 10 common measures' targets, indicative of the progress. Some hospitals achieved substantial positive gains; however, missed targets suggest substantial organizational and workflow changes over a longer timeframe as well as consistent patient engagement may be necessary. Overall, the P4P structure of DSTI was effective in encouraging organizational change and supporting the transition of these hospitals towards APMs.
Applications of cardiac biomarkers in chronic kidney disease
Authors: Kula Alexander , Bansal Nisha 
Published: August 2022

Purpose of review
Cardiovascular disease is the leading cause of death in individuals with chronic kidney disease (CKD). The mechanisms connecting CKD and cardiovascular disease are complex, and serum biomarkers can help improve our understanding. Nt-proBNP and troponin have documented success as biomarkers to diagnose and provide mechanistic insights in non-CKD populations. The purpose of this review is to summarize evidence suggesting efficacy and potential for clinical application of Nt-proBNP and troponin in individuals with CKD.

Recent findings
Our understanding of how Nt-proBNP and Troponin should be interpreted in those with CKD is evolving. Although both biomarkers are in part cleared by the kidney, elevated levels predominantly reflect cardiovascular disease. Both Nt-proBNP and troponin are associated with risk for future cardiovascular events in CKD. Determining CKD-specific cutoffs and using biomarkers to guide therapy remains under active investigation.

Summary
Of the many serum biomarkers under investigation, Nt-proBNP and troponin best meet the criteria for effective biomarkers in CKD. Assays are widely available and proven to be accurate in CKD populations. Nt-proBNP and troponin deserve special focus in ongoing research of cardiovascular risk reduction in CKD, especially to identify patients at the highest risk, suggest targetable mechanisms and assess treatment efficacy.