RETINAL VASCULAR DISEASE IN LIMB-GIRDLE MUSCULAR DYSTROPHY.

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.

NATIONWIDE DEMOGRAPHIC DISPARITIES IN UNITED STATES EMERGENCY DEPARTMENT VISITS IN PATIENTS WITH RHEGMATOGENOUS RETINAL DETACHMENT.

BACKGROUND/PURPOSE: Within the evolving landscape of healthcare in the United States (US), delineating the demographic nuances and financial implications of emergent conditions, such as rhegmatogenous retinal detachment (RRD), is paramount. This study seeks to analyze the demographic and hospital billing amount/cost of service disparities in RRD visits to emergency departments (EDs) nationwide. METHODS: We conducted a retrospective, cross-sectional, population-based study using International Classification of Diseases, 10th revision , and Current Procedural Terminology codes in the 2016 to 2019 Nationwide Emergency Department Sample databases to identify RRD visits. The analysis included demographics, hospital billing amount, and cost of service of RRD ED management. RESULTS: A total of 12,492 RRD encounters were identified with men constituting 64% and a prominent age group being 50 to 64 years (49.3%). Most patients (90%) were managed in metropolitan teaching hospitals, predominantly in the southern U.S. region (56.1%). Private insurance covered 45% of patients. Same-day RRD repair odds increased in November and December. Whites had a higher likelihood for same-day treatment. Hospital billing amount rose from $23,600 in 2016 to $30,354 in 2019, with stable mean total cost of service. Rhegmatogenous retinal detachment ED visit incidence did not show seasonal variation ( P = 0.819). CONCLUSION: Most patients with RRD in U.S, EDs were middle-aged men, with Whites more likely to receive same-day repair. There was no sex bias observed in same-day repair decision-making. Although hospital billing amount increased over the study period, total cost of service remained stable. The incidence of RRD ED visits showed no seasonal variation.

Retinal displacement following repair of rhegmatogenous retinal detachment.

Retinal displacement following the repair of rhegmatogenous retinal detachment (RRD) has been reported in recent studies. It was described as vertical movement of the retinal relative to its original location, as evidenced by retinal vessel printing on fundus autofluorescence imaging. This review reports the current literature on retinal displacement. We conducted an English literature search using Medline, PubMed, Embase, and Web of Science. We have reviewed 22 articles describing the diagnosis, frequency, and possible risk factors for retinal displacement. The reported rate of retinal displacement ranged from 6.4% to 62.8%, and the possible risk factors included the detachment-to-repair time, location and extent of RRD, macula-off RD, presence of subretinal fluid, use of perfluorocarbon, use of tamponade, postoperative facedown positioning, type of RRD repair, and presence of proliferative vitreoretinopathy, especially high grade. This review increases awareness of retinal displacement and its associated visual effects.

Limitations of direct-to-consumer genetic testing for age-related macular degeneration.

The availability of direct-to-consumer genetic testing (DTCGT) for age-related macular degeneration (AMD) provides the public with access to disease risk estimations that may be used to guide lifestyle adjustments. However, AMD development risk is more complex than can be captured by gene mutations alone. The methodologies employed by current DTCGTs to estimate AMD risk vary and are limited in several ways. Genotyping-based DTCGT is biased toward European ancestry and only considers a limited number of genes. Whole genome sequencing based DTCGTs uncovers several genetic variations with unknown relevance, making risk interpretation challenging. In this perspective, we describe the limitations of the DTCGT for AMD.

EVALUATION OF RETINAL DISPLACEMENT FOLLOWING PRIMARY SCLERAL BUCKLING FOR MACULA-INVOLVING RHEGMATOGENOUS RETINAL DETACHMENT.

PURPOSE: To evaluate the incidence and degree of retinal displacement following scleral buckling surgery for macula-involving rhegmatogenous retinal detachment. METHODS: Retrospective interventional case series comprised of patients treated with primary scleral buckling procedure without gas tamponade for macula-involving rhegmatogenous retinal detachment and imaged postoperatively with fundus autofluorescence imaging between June 1, 2016 and July 25, 2021. Clinical notes, operative reports, fundus autofluorescence photographs, and optical coherence tomography images were reviewed. The presence and degree of retinal displacement were recorded. RESULTS: Twelve eyes of 11 patients were included. One (8%) eye with an epiretinal membrane demonstrated 0.1 mm of retinal displacement along the superior arcade and in the superotemporal periphery. The remainder of eyes (92%) did not show any identifiable signs of retinal displacement. CONCLUSION: Retinal displacement does not seem to be a frequent complication of primary scleral buckling surgery for macula-involving rhegmatogenous retinal detachment.

Natural History and Surgical Timing for Idiopathic Epiretinal Membrane.

PURPOSE: This study assessed the prevalence of progression to surgery on idiopathic epiretinal membrane (iERM) and compared the results with those of immediate surgery. DESIGN: Retrospective study with nested case-control comparison. SUBJECTS: Patients with mild iERM at initial presentation METHODS: A retrospective study with a nested case-control study was conducted to compare the outcomes of those who later progressed to surgery ("deferred surgery") with those of a control group that underwent surgery within 6 months of initial presentation ("immediate surgery"). MAIN OUTCOME MEASURES: The prevalence of performing vitrectomy with membrane peeling after initial deferral, features associated with deferred surgery, and the visual acuity (VA) outcomes of surgery compared with those with immediate surgery. RESULTS: A total of 413 patients were included in the base study cohort: 369 did not undergo iERM peeling, whereas 44 (10.7%) underwent deferred surgery at a mean duration of 18.1 months after initial presentation. The factor most associated with later progression to surgery, determined using a multivariate analysis, was symptoms at initial presentation (odds ratio [95% confidence interval], 8.75 [3.80-20.15]; P < 0.0001). The immediate surgical group (controls) had a poorer logarithm of the minimum angle of resolution (logMAR) best-corrected visual acuity (BCVA) at presentation compared with the deferred surgery group (cases), but this decreased in the latter group to about the same preoperative level immediately before the deferred surgery (typically why they underwent surgery). The final logMAR BCVA was similar in the deferred and immediate surgical groups when only pseudophakic cases were analyzed. An analysis of the change from preoperative BCVA (instead of initial) to final BCVA showed no difference in the magnitude of change between the pseudophakic subgroups of the deferred and immediate surgery groups (median [interquartile range] preoperative VA of 0.52 [0.40-0.60] in the deferred surgery group and 0.44 [0.39-0.60] in the immediate surgery group [P = 0.7256]). Within the deferred and immediate surgery groups, the median change from preoperative BCVA to final BCVA in the pseudophakic subgroups was 0.22 (P = 0.0082) in the former and 0.21 (P = 0.0001) in the latter. CONCLUSIONS: The vast majority of eyes with iERM remain stable after initial presentation. The deferral of surgery in the minority of patients who progress does not have a disadvantageous final outcome compared with immediate surgery.

Unmasking immune reconstitution inflammatory syndrome: a report of tuberculous epididymo-orchitis mimicking a testicular tumour in a Caucasian AIDS patient.

Worldwide, it is estimated that 14.8% of all new tuberculosis cases in adults are attributable to HIV infection. Genitourinary tuberculosis is a known complication and is considered to be a severe form of extrapulmonary tuberculosis. Isolated tuberculous epididymo-orchitis is rare. We report a Caucasian HIV-positive heterosexual male with a clinical diagnosis of testicular tumour for which he underwent a right orchidectomy. Tuberculous epididymo-orchitis was confirmed by histology. In this case, all Immune Reconstitution Inflammatory Syndrome (IRIS) criteria were met. We want to convey the message that in HIV-positive patients presenting with testicular swelling, an infective aetiology should be considered. This will increase the possibility of early diagnosis and proper management.

Mechanisms of Resistance to Chemotherapy in Gastric Cancer.

Although surgical resection is the standard curative therapy for gastric cancer, these tumors are often diagnosed at an advanced stage, when surgery is not recommended. Alternative treatments such as radiotherapy and chemotherapy achieve only very modest results. There is therefore an urgent need to advance in this field of oncologic gastroenterology. The poor response of gastric cancer to chemotherapy is usually due to a combination of mechanisms of chemoresistance (MOC), which may include a reduction in drug uptake (MOC-1a), enhanced drug efflux (MOC-1b), a reduced proportion of active agents in tumor cells due to a reduction in pro-drug activation or an enhancement in drug inactivation (MOC-2), changes in the expression/function of the molecular targets of anticancer drugs (MOC-3), an enhanced ability of cancer cells to repair anticancer drug-induced DNA damage (MOC-4), and decreased expression/function of pro-apoptotic factors or up-regulation of anti-apoptotic genes (MOC-5). Two major goals of modern pharmacology aimed at overcoming this situation are the prediction of a lack of response to chemotherapy and the identification of the underlying mechanisms accounting for primary or acquired refractoriness to anticancer drugs. These are important issues if we are to select the best pharmacological regime for each patient and develop novel strategies to overcome chemoresistance. The present review reports updated information regarding the mechanisms of chemoresistance (from MOC-1 to MOC-5) in gastric cancer, the advances made in the prediction of the failure of chemotherapeutic treatment, and novel strategies based on gene therapy currently being developed to treat these tumors.

Prostate cancer metastases to the rectum: a case report.

Prostate cancer rarely metastasis to the rectum. Findings in the patient reported here emphasize the importance of the relationship between urinary and gastrointestinal symptoms in detecting prostatic neoplasms in older male patients.

[Patient satisfaction in hospital: critical incident technique or standardised questionnaire?]. / Ermittlung der Patientenzufriedenheit im Krankenhaus: Critical-incident-Technik oder standardisierter Fragebogen?

BACKGROUND: Questionnaires are usually used for the measurement of patient satisfaction, however, it is increasingly being recognized that the critical incident technique (CIT) also provides valuable insight. METHODS: Questionnaires of the "Hamburger questionnaire on hospital stay" were distributed to 650 consecutive patients before discharge. Additionally 103 interviews were conducted in which the patients were asked to describe positive and negative incidents during their hospital stay. The results of both methods were then compared. RESULTS: A total of 369 patients returned the questionnaire and 103 patients participated in the interviews. The duration of a single interview was between 5 and 45 min with a mean of 12.7 min+/-10.1 min standard deviation (SD). Cronbach's alpha of the questionnaire was 0.9. A total of 424 incidents were reported, 301 of them were negative compared to 123 positive events. The questionnaires and interviews yielded partly similar and partly different results at category and subcategory levels concerning the areas of weaknesses and strengths in quality performance. The CIT was more concrete but did not give results for all aspects of quality. The CIT, but not the questionnaire, was able to detect 40/56 (71%) of the positive and 33/75 (44%) of the negative reports regarding medical performance and 25/42 (60%) of the positive and 15/51 (29.4%) of the negative reports of the performance of the nurses were revealed by the CIT and not by the questionnaires. CONCLUSION: The CIT gives valuable insights into the patient's perspective of strengths and weaknesses in hospital care, which might be overlooked by the questionnaire alone. However, the CIT is probably not suited for routine use because it is very time-consuming.

Atrial septal defect: spectrum of care.

Atrial septal defect (ASD) is a common congenital heart defect. Variability in management of this lesion exists among clinicians. A review of the literature reveals that there is lack of standard guidelines for the evaluation and management of patients with different types of ASDs. This survey-based study was conducted to test the uniformity of diagnostic and therapeutic approach to management of children with secundum, sinus venosus, and primum ASDs. Survey questionnaires were prepared to include questions regarding follow-up, diagnosis, and therapeutic intervention of different types and sizes of ASDs. Questions addressed follow-up visitations, type and frequency of investigative studies, pharmacological therapy, and choice of repair method. Surveys were sent out to all pediatric cardiology academic programs in the United States (n=48) and randomly selected international programs from Europe, Asia, and Australia (n=19). A total of 23 programs (34%) responded to the survey (15 from the United States and 8 internationally). A separate questionnaire was prepared for secundum, primum, and sinus venosus ASD. In each questionnaire, lesion types were subdivided into small, moderate, and large defect sizes to address differences of management approaches to each defect type and size. Results indicate that in secundum ASD, most participants use size of the defect and/or evidence of right-sided volume overload as criteria for defining small, moderate, and large defects. Frequency of follow-up does not vary with the type of lesion but is more frequent with larger defects. Most participants see patients with small defects at intervals of 6 months to 1 year and those with large defects at 3- to 6-month intervals. Age of patient and presence of symptoms determined the frequency of follow-up across all defects. Echocardiography was the most frequently used investigative modality in all defect sizes and types during follow-up visits (used by >80% for follow-up), followed by electrocardiography (ECG). There is a striking preference for the use of pharmacological therapy in primum ASD compared with secundum and sinus venosus ASD. The timing of repair was mainly dependent on patient age and symptomatology in different defects, with the presence of associated anomalies contributing to that in primum and sinus venosus ASD. Most participants use percutaneous approach to close secundum ASD (either as a first choice or as one of two choices depending on the presence of certain features). Before repair, participants use MRI or cardiac catheterization to fully evaluate a secundum ASD if it is large. These investigative modalities are not commonly used in primum and sinus venosus ASD. There is agreement on postoperative follow-up in different types of defects, with most participants continuing follow-up indefinitely, especially in larger defects.

Aortic stenosis: the spectrum of practice.

There is significant variation in practice patterns in managing congenital aortic valve stenosis. Review of medical literature reveals no significant information regarding the current practice methods in the treatment of a simple lesion such as aortic stenosis (AS). Therefore, this survey-based study was conducted in an attempt to better understand the uniformity or heterogeneity of practice in treating AS. A questionnaire was prepared to evaluate the style of management of AS. This survey was designed to assess the practice of follow-up visitations, type and frequency of investigative studies, pharmacological therapy, and exercise recommendations. Questions about therapeutic intervention included those of timing and type of intervention. Questionnaires were sent to all academic pediatric cardiology programs in the United States (48 program) and selected international programs from Europe, Asia, and Australasia (19 program). The total number of surveys sent out was 67, and the total number of respondents was 25 (37%), 15 (31%) from the United States and 9 (53%) from outside the United States. The definition of moderate AS varied among respondents. The range provided for mild AS was identified as that with a peak-to-peak pressure gradient of < 25-30 mmHg, peak instantaneous Doppler gradient of < 36-50 mmHg, or mean Doppler gradient of < 25-40 mmHg. On the other hand, severe AS was defined as that with a peak-to-peak gradient of > 50-60 mmHg, peak instantaneous Doppler gradient of > 64-80 mmHg, or mean Doppler gradient of > 45-64 mmHg. In assessing follow-up patterns, 84% of respondents recommended seeing patients with mild AS annually, the longest time of follow-up listed in the questionnaire, whereas 20% suggested follow-up every 6 months. There was no consensus among survey centers regarding follow-up of patients with moderate AS. For severe AS, 16% recommend immediate intervention, 16% arrange follow-up every 6 months, and 56 and 28% recommend follow-up in 3 and 1 month(s), respectively. In making the decision to proceed with biventricular versus univentricular repair in patients with AS in the neonatal period, many factors were considered. Ninety-two percent of respondents rely on mitral valve z score, 84% on aortic valve z score, 52% on left ventricle length, 48% on the presence of antegrade ascending aorta flow, and only 32% considered significant endocardial fibroelastosis as a factor. Rhodes score was used by 20% of respondents in decision making regarding the approach to management of this subset of AS. This study shows that there is consensus in the management of mild and severe forms of AS. As expected, disagreement is present in the definition, evaluation, and therapy of moderate aortic valve stenosis. There is a tendency for catheter intervention except in the presence of dysplastic aortic valve or moderate to severe aortic regurgitation. There is also disagreement regarding methods used to determine biventricular versus univentricular repair of a borderline hypoplastic left heart.

Hybrid pediatric cardiac surgery.

Minimally invasive strategies can be expanded by combining standard surgical and interventional techniques. We performed a longitudinal prospective study of all pediatric patients who have undergone hybrid cardiac surgery at the University of Chicago Children's Hospital. Hybrid cardiac surgery was defined as combined catheter-based and surgical interventions in either one setting or in a planned sequential fashion within 24 hours. Between June 2000 and June 2003, 25 patients were treated with hybrid approaches. Seventeen patients with muscular ventricular septal defects (mVSDs) (mean age, 4 months; range, 2 weeks-4 years) underwent either sequential Amplatzer device closure in the catheterization laboratory followed by surgical completion (group 1A, n = 9) or one-stage intraoperative off-pump device closure (group IB, n = 8) with subsequent repair of any concomitant heart lesions. Eight patients with branch pulmonary artery (PA) stenoses (group 2) underwent intraoperative PA stenting or stent balloon dilatation along with concomitant surgical procedures. All patients survived hospitalization. Complications from the hybrid approach were mostly confined to groups 1A and 2. At a mean follow-up of 18 months, 2 group 1A patients died suddenly several months after discharge. All other patients are doing well. Hybrid pediatric cardiac surgery performed in tandem by surgeons and cardiologists is safe and effective in reducing or eliminating cardiopulmonary bypass. Patients with mVSDs who are small, have poor vascular access, or have concomitant cardiac lesions are currently treated in one setting with the perventricular approach.

Multicenter experience with perventricular device closure of muscular ventricular septal defects.

Hybrid procedures are becoming increasingly important, especially in the management of congenital heart lesions for which there are no ideal surgical or interventional options. This report describes a multicenter experience with perventricular muscular venticular septal defect (VSD) device closure. Three groups of patients (n = 12) were identified: infants with isolated muscular VSDs (n = 2), neonates with aortic coarctation and muscular VSDs (n = 3) or patients with muscular VSDs and other complex cardiac lesions (n = 2), and patients with muscular VSDs and pulmonary artery bands (n = 5). Via a sternotomy or a subxyphoid approach, the right ventricle (RV) free wall was punctured under transesophageal echocardiography guidance. A guidewire was introduced across the largest defect. A short delivery sheath was positioned in the left ventricle cavity. An Amplatzer muscular VSD occluding device was deployed across the VSD. Cardiopulmonary bypass was needed only for repair of concomitant lesions, such as double-outlet right ventricle, aortic coarctation, or pulmonary artery band removal. No complications were encountered using this technique. Discharge echocardiograms showed either mild or no significant shunting across the ventricular septum. At a median follow-up of 12 months, all patients were asymptomatic and 2 patients had mild residual ventricular level shunts. Perventricular closure of muscular VSDs is safe and effective for a variety of patients with muscular VSDs.

The pediatric cardiology pharmacopoeia: 2004 update.

Seven years ago, Pediatric Cardiology published the first version of a review article outlining the various medications used in the field of heart diseases in children. This article is an update and expansion to what we have previously presented. Therapeutic intervention, both surgical and through cardiac catheterization, has enabled cure and palliation of an increasingly expanding spectrum of diseases at earlier ages and with more complex lesions. Refinement of these procedures includes more advanced tools as well as the support of an expanding armament of pharmacopoeia used to stabilize and support patients before, during, and after such procedures. In addition to updating previously published data regarding inotropes, antiarrhythmics, vasodilators, diuretics, sedatives, and analgesics as well as a variety of miscellaneous medications, this article describes the use of pulmonary medications frequently needed in patients with congestive heart failure, pulmonary edema, and chronic lung disease. We also describe the difficult management of withdrawal as a result of use of sedatives and analgesics. The most recent recommendation for subacute bacterial endocarditis prophylactic antibiotic regimens is also described.

Cardiovascular embryology.

During the first 20 days of development, the human embryo has no cardiovascular structure. Over the next month, the heart and great vessels complete their development and look very much like they will at full gestation. This amazing process transforms isolated angiogenic cell islets into a complex, four-chambered structure. During this transformation, the single heart tube begins to beat at 23 days of development and by 30 days blood circulates through the embryo.

Prosthetic dental treatment needs in Eastern [corrected] Saudi Arabia.

OBJECTIVE: The objective of this study was to determine the prosthetic treatment needs of an adult population in Al-Ahsa Area, Kingdom of Saudi Arabia. METHODS: A sample of adults attending the King Fahad Hospital Dental Center, Al-Ahsa, Kingdom of Saudi Arabia were examined for prosthetic treatment needs utilizing the World Health Organization criteria during 1999. Statistical analysis system was utilized to generate frequencies, means and standard deviations, and various statistical tests were carried out. RESULTS: A total of 435 adults, 192 (44.1%) males and 243 (55.9%) females with a mean age of 47.7 (standard deviation 15.4) years were examined for prosthetic treatment needs. About two-thirds (64.8%) of the sample were in need of an upper denture. A significantly higher number of males (68.8%) needed an upper denture as compared to the females (61.7%). About three-quarters (73.8%) of the sample were in need of a lower denture. The need for lower denture was similar among the males (75.0%) and females (72.8%). About one-sixth (17.2%) of the sample was in need of an upper bridge. A higher number of females (18.9%) needed an upper bridge as compared to the males (15.1%). About one-quarter (22.5%) of the sample was in need of a lower bridge. A higher number of females (25.5%) needed lower bridge as compared to the males (18.8%). The need for upper denture was similar in both urban (64.7%) and rural (65.1%) dwellers. The need for lower denture was also similar in both urban (73.2%) and rural (75.2%) dwellers. A higher number of rural dwellers needed an upper (20.2%) and lower (26.4%) bridge as compared to the upper (16%) and lower (20.9%) bridge in urban dwellers. CONCLUSION: The results indicate that more than one- quarter of the sample needs a denture. A significantly higher number of males needed dentures than females. More females were in need of a bridge as compared with males. A significantly higher percentage of urban population needed full dentures as compared with rural population.