Bilateral Pathology Research Articles

Talocalcaneonavicular Realignment: The Foundation for Comprehensive Reconstruction of Severe, Resistant Neurologic Cavovarus, and Equinocavovarus Foot Deformities in Children and Adolescents.

The progression of neurologic cavovarus (NCV) and equinocavovarus (NECV) foot deformities during growth can eventually lead to non-reducible severe talonavicular (TN) and subtalar (ST) joint rotational malalignments. This study aimed to describe a technique to correct severe, resistant inversion deformity of the ST joint complex as the foundational procedure in comprehensive reconstruction of multi-segmental NCV and NECV deformities in pediatric patients and to analyze mid-term radiologic, functional, and satisfaction outcomes. This prospective study included children with severe NCV and NECV foot deformities who underwent TCNR between 2019 and 2022, with a minimum follow-up of 2 years. Talocalcaneal angle, talus-1 metatarsal angles, and TN coverage angle were measured in preoperative and postoperative weight-bearing foot radiographs. The foot and ankle disability index, foot function index, and Maryland foot score evaluated functionality. Qualitative questions assessed perceived improvement, satisfaction, and expectations of patients/caregivers. Descriptive, comparative pre-post, subgroup, correlation, and satisfaction analysis were performed. Twenty-six patients (36 feet: 16 unilateral and 10 bilateral) were included; 50% were female, median age was 12.1 years (IQR, 3.21) and median follow-up was 32.9 months (IQR, 18.7). Fifty-four percent had cerebral palsy, and 23% had charcot-marie-tooth disease; 84.6% were ambulatory. Significant improvements were found in radiologic parameters and functional outcomes (P<0.01), with no relevant differences between unilateral or bilateral procedures, pathology, functional level, or ambulatory capacity (P>0.05). Correlations between radiologic parameters or functional scales with age were generally low. Most reported significant functional improvements, outcomes exceeding expectations, and high satisfaction; they would recommend the surgery and undergo the procedure again. There were 3 minor complications: hypersensitivity, partial recurrence, and undercorrection. The TCNR technique enables realignment of severe, resistant inversion deformity of the ST joint complex in NCV and NECV foot deformities. When combined with procedures to correct the other foot deformities and muscle imbalances, functional outcomes are enhanced, high patient/caregiver satisfaction is achieved, and low complication rates are possible. This approach represents an important modification and extension of an already described technique, the deep plantar-medial release. Level III, therapeutic prospective cohort study.

Prevalence and Pattern of Ear Disease Among Primary School Students in Samoa: Preliminary Results from ENT Clinic Outreach to Urban, Rural and Remote Settings.

Objectives: To assess the prevalence and pattern of ear disease among students attending primary school in urban, rural, and remote regions of Samoa in order to develop an evidence-based national school ear and hearing health program. Methods: Retrospective clinical data review of all primary school students seen by the Ear, Nose & Throat Clinic of Samoa during school-based outreach visits from March 2022 to April 2024. A purposefully designed spreadsheet was created to extract the following information from the clinical records: school location (urban, rural, remote), gender (male, female), age (years), age category (0-4, 5-9, 10-14, 15+ years), right ear diagnosis, left ear diagnosis. Data were entered into the SPSS statistical software package for descriptive statistical analysis and association tests of significance. Results: A total of 1491 primary school students were seen for ear health examinations (51.1% male, 48.9% female), with a mean age of 9.1 years (SD = 2.3). Five primary schools were included, representing urban (n = 865), rural (n = 258), and remote (n = 368) settings. Overall, 682 (45.7%) students had normal ear examination results for both ears, 237 (15.9%) had an ear pathology in 1 ear only, and 568 (38.1%) had ear pathology in both ears. Bilateral ear pathology was significantly higher among students who were in the 5 to 9 age group (P < .00001), female (P = .035), and from rural settings (P = .0001). The most common pathology was impacted cerumen (36.8%), followed by otitis media with effusion (7.5%). Overall prevalence of chronic suppurative otitis media (CSOM) was 2.6% (n = 39 students). Following the school visits, no further intervention was required for 1180 students (79%), mostly due to successful cerumen and foreign body removals for 468 students (31.4%). Conclusion: Impacted cerumen is a significant issue among Samoan school-aged students, and future school-based ear health programs should include staff members trained in cerumen removal. CSOM prevalence suggests an avoidable burden of disease that must be addressed.

Pre-term Familial Exudative Vitreoretinopathy: A Novel Nonsense LRP5 Mutation.

This case report details the diagnosis and management of a pre-term infant with aggressive bilateral retinal pathology. A 4-week-old preterm baby girl, born at 28 weeks and 6 days to consanguineous parents, was referred for suspected aggressive posterior retinopathy of prematurity (ROP). She had a family history of bilateral retinal detachments and intellectual disability in an older sister. Clinical assessment included retinal examination, fluorescein angiography, optical coherence tomography, dual-energy X-ray absorptiometry (DEXA), and genetic testing. The genetic testing involved sequence analysis and copy number variation analysis of 25 genes related to vitreoretinopathy. Retinal examination and fluorescein angiography revealed extensive non-perfusion and telangiectatic vessels in both eyes, and a macula-involving tractional retinal detachment in the left eye. Despite treatment with intravitreal bevacizumab and laser photocoagulation, they progressed to total retinal detachment and no light perception in both eyes. Genetic testing revealed a pathogenic homozygous nonsense mutation in the LRP5 gene (c.3259C>T, p.(Gln1087*)), a mutation not previously reported in association with familial exudative vitreoretinopathy (FEVR). At 10 months of age, DEXA demonstrated normal bone density, diverging from the typical presentation of osteoporosis pseudoglioma syndrome associated with LRP5 mutations. This case describes a novel mutation in a complex retinal disease and underscores the necessity of considering pre-term FEVR in the differential diagnosis of atypical or aggressive ROP in preterm infants. The overlap in clinical features between ROP and FEVR highlights the complexity of diagnosis and management and the importance of genetic testing in preterm infants with retinal vascular abnormalities.

Normative Measurements of the Infraorbital Nerve by Magnetic Resonance Imaging in an Australia Cohort.

To report the normative dimensions of the infraorbital nerve on fat-suppressed gadolinium-enhanced MRI and correlate with patient demographics in an Australian cohort. A retrospective review of patients who underwent coronal fat-suppressed gadolinium T1-weighted MRI from September 2021 to December 2023. One hundred sixty-eight orbits were included. The maximum diameter of the infraorbital nerve and the optic nerve sheath was measured. Orbits were excluded if there was unilateral or bilateral pathology of the infraorbital nerve or optic nerve sheath, incomplete MRI sequences, poor image quality, or indiscernible infraorbital nerve on radiological examination. The mean age of participants was 58 ± 16 years, and 50% were females (n = 42). The mean normative measurements (mean ± standard deviation) on coronal T1-weighted imaging: optic nerve sheath, 5.08 ± 0.67 mm. On coronal fat-suppressed gadolinium T1-weighted imaging: infraorbital nerve, 0.89 ± 0.22mm. No significant differences were found between male or female participants in both the infraorbital nerve (p = 0.757) or optic nerve sheath (p = 0.646). There was no significant correlation between age and mean diameter of the infraorbital nerve (r = 0.077, p = 0.320) or optic nerve sheath (r = 0.075, p = 0.336). Additionally, no significant difference was identified between the mean diameter of the infraorbital nerve (p = 0.079) and optic nerve sheath (p = 0.120) across age groups. The mean infraorbital nerve to optic nerve sheath ratio was 0.18 ± 0.00. Normative dimensions of the infraorbital nerve may be used to identify enlargement in conditions such as IgG4-related ophthalmic disease and reactive lymphoid hyperplasia.

Qualitative and quantitative spermatic cord abnormalities at CT predict symptomatic scrotal pathology

PurposeTo evaluate quantitative and qualitative spermatic cord CT abnormalities and presence of unilateral or bilateral symptomatic scrotal pathology (SSP) at ultrasound.MethodsThis retrospective study included 122 male patients (mean age 47.8 years) undergoing scrotal ultrasound within 24 h of contrast-enhanced CT (n = 85), non-contrast CT (NECT, n = 32) or CT-Urogram (n = 5). CECT quantitative analysis assessed differential cord enhancement using maximum Hounsfield unit measurements. Three fellowship trained body radiologists independently assessed qualitative cord abnormalities for both CECT and NECT. Qualitative and quantitative findings were compared with the presence of SSP. Reader performance, interobserver agreement and reader confidence were assessed for NECT and CECT. Quantitative cutoff points were identified which maximized accuracy, specificity, negative predictive value, and other measures.ResultsSSP was present in 36/122 patients (29.5%). Positive cases were unilateral in 30 (83.3%) and bilateral in 6 (16.6%). At quantitative assessment, 25% differential cord enhancement had the highest diagnostic accuracy (88.9%), with 90.5% positive predictive value, 88.4% negative predictive value, 96.8% specificity, and 70.4% sensitivity. At qualitative evaluation, CECT reader performance was excellent (aggregate AUC = 0.86; P < .001); NECT was poorly discriminatory, although remained significant (aggregate AUC = 0.67; P = .002). Readers had significantly higher confidence levels with CECT (P < .001). Qualitative inter-observer agreement was high for both CECT and NECT (ICC = 0.981 and 0.963, respectively).ConclusionSimple quantitative assessment of differential cord enhancement is highly accurate and specific for SSP at CECT. Qualitative abnormalities at CECT and NECT are also both predictors of SSP, however, CECT significantly out-performs non-contrast exams.Graphical abstract

Bilateral first metatarsophalangeal joint arthrodesis: An investigation of functional, surgical and radiological outcomes

BackgroundFirst metatarsophalangeal joint (MTPJ) arthrodesis is a commonly utilised procedure. In this study, the authors aim to explore functional outcomes of patients undergoing nonsynchronous bilateral first MTPJ arthrodesis under the care of a single surgeon using a compression screw/locking plate construct. MethodsThis is a prospectively collected, retrospectively analysed case series of fifty five patients who underwent bilateral nonsynchronous first MTPJ arthrodesis. Clinical and radiological outcomes were assessed preoperatively and at a minimum of two years postoperatively. Clinical outcomes were assessed using the Foot and Ankle Outcome Score (FAOS), the Self-Reported Foot and Ankle Score (SEFAS) and the Sports Questionnaire version 1 (SQ). Postoperative radiographs were used to assess evidence of union and compare both hallux valgus and intermetatarsal angles. Removal of hardware, revision surgery and correction of deformities were also recorded. ResultsFifty five patients were included in the study. There was statistically significant improvements in all five facets of the FAOS (p value < 0.05). The mean postoperative SEFAS was 45.1. In total, patients participated in thirteen different sporting activities. This represented 92 patient specific activities preoperatively and 104 postoperatively. The most common activities were walking, cycling and swimming. Overall, 94.5% (N = 52) of the cohort were satisfied with their return to sport while 98.2% (N = 54) would recommend bilateral first MTPJ arthrodesis. Mean reductions in hallux valgus angles and intermetatarsal angles were noted at 18.87 and 4.69 degrees respectively. There was one non-union in the cohort which required revision surgery. One patient required removal of hardware. ConclusionsBilateral first MTPJ arthrodesis is a safe and effective surgical option for patients with bilateral first MTPJ pathology. It has a high union rate, low complication rate and significantly improves clinical outcomes and allows patients reliably return to physical activities.

Akinetic Mutism and Cognitive‐Affective Syndrome caused by unilateral PICA infarction

AbstractBackgroundAkinetic mutism (AM) is characterized by sparse volitional motor and speech activation with reasonably preserved arousal and vigilance functions. Akinetic mutism, the most severe of these disorders, is most commonly associated with bilateral hemispheric pathology, although unilateral lesions may produce this condition as well.MethodCase: Our patient is a 42‐year‐old right handed man who presented to the emergency department with an acute onset of akinetic mutism. His family described him as a calm and intelligent individual with a good cultural knowledge level and without any evident cognitive abnormality before he suddenly experienced akinetic mutism. On examination, he was alert but produced no spontaneous speech and had only rare, spontaneous movement of his arm and leg. With repeated prompting, he followed single‐step commands.ResultMagnetic resonance imaging demonstrated an infarction in the distribution of the left posterior inferior cerebellar artery. During the course of 7 days, as the patient became more interactive, he demonstrated normal language function. As he became more communicative, cognitive impairment became apparent. Neuropsychological evaluation were performed after approximately 12 days after onset because of the impossibility of test administration during the acute phase. Impaired performances were evident on executive function testing with difficulties in planning, abstract reasoning, set‐shifting and perseveration. Furthermore, attention disorders and memory dysfunction were mild observed and were probably due to the poor ability of planning and organization. Language tests revealed mild deficits in the semantic sphere with paraphasia, anomia and circumlocutory expressions. During psychometric testing, the patient presented agitated and anxious behavior with affective air hunger and episodes of crying. Brain SPECT were performed after approximately 14 days after onset. Brain SPECT demonstrated hyporperfusion in Lt. cerebellar and frontal cortex.ConclusionThe syndrome of akinetic mutism is typically the result of bilateral hemispheric injury, usually involving the anterior cingulate gyri. Other locations for lesions producing akinetic mutism include the thalami, globus pallidus, internal capsule, and frontal white matter. We describe a man with akinetic mutism and cognitive impairment due to an ischemic stroke in the distribution of the left PICA.

Bilateral Renal Artery Aneurysm: Clinical Case Report

Introduction: Renal artery aneurysms are rare vascular anomalies and even more exceptional is they are located in both renal arteries in this case. The literature reports an approximate occurrence of 0.01 to 0.09 in the general population. Its appearance predominates in the female gender and the most common location is in the right renal artery. The peak age of occurrence is between 40 and 60 years. Its physiopathology is generally caused by inflammatory processes and muscular fibrodysplasias; however, when they are intraparenchymal, they are associated with congenital collagenopathies or polytraumatisms. Clinical case: 74-year-old male patient with a personal history of Parkinson's disease, adrenocortical adenoma and diverticulosis. During the study of his basic pathology, a simple and contrast angiography of the abdomen was performed, after the verification of his renal function, which was within normal ranges (urea 44.4 mg/dl, creatinine 1.04 mg/dl). The presence of images suggestive of aneurysms in the left renal arteries was reported as an incidental finding, therefore he was referred to the Department of Angiology and Vascular Surgery. The clinical case was discussed by the medical staff of the Department of Angiology and Vascular Surgery, concluding that the rare bilateral renal artery aneurysm pathology does not meet criteria for open or endovascular surgery, therefore it is indicated to continue regular monitoring to determine possible growth and intervention in case of risk of rupture. Conclusions: With the development of imaging techniques, the incidental finding of renal artery aneurysm is going to be more and more frequent. The presence of symptoms is also fundamental in making decisions regarding the need for surgery. In asymptomatic patients, non-aggressive treatment is recommended; however, the clinical evaluation of each patient should be individualized.

Corrective Osteotomy in a Patient With Congenital Absence of Pronation Based on Three-Dimensional Statistical Shape Modeling.

We present a new indication of a three-dimensional statistical shape model (SSM): a patient with bilateral impaired forearm rotation due to a congenital variance in bone shape. A corrective osteotomy was planned and performed to best match the SSM created by computed tomography (CT) scans of 18 peers. Postoperatively, pronation increased by 70°, and the patient was pain-free. A CT scan showed accurate correction of the deformity and union of all osteotomies. This technique offers opportunities for patients with bilateral nontraumatic osseous forearm pathology.

Using bilateral data in controls and patients with bilateral and unilateral pathology requires increased scrutiny

In many aspects of human research, capturing multiple measures from the same participant is common due to the symmetric nature of the human body (e.g., two eyes, ten fingers, two legs, etc.). This has established a concerning paradox in biomedical and clinical research. When the same condition exist bilaterally (controls or bilateral pathology), researchers often blindly include both (or multiple) measures into the statistical analysis. This assumes that measures between the two sides are statistically independent (uncorrelated). However, there are certain inherent factors within an individual (e.g., age, sex, physical activity, gait pattern, tissue characteristics, hormonal status, pain thresholds, etc.) that would point to a statistical dependence between bilateral measures. Conversely, in unilateral pathology, it is common practice to use the contralateral side as the comparator. This assumes the exact opposite, that sans pathology, bilateral measures are perfectly correlated without bias. Both of these assumptions can lead to errors in the study conclusions. Few studies have explored the statistical dependence between multiple measures from the same participant. Thus, the purpose of this perspective is to explore the statistical considerations associated with analyzing multiple measures from the same participant and provide recommendations for navigating the use of multiple, non-temporal, data points from the same participant. To give context for these recommendations, an example dataset involving patellofemoral kinematics is provided. Due to the prevalent use of bilateral data in the current literature and the resulting potential for invalid study conclusions, we recommend that future research use caution when using multiple measures from the same participant and apply proper statistical analysis (e.g., generalized estimating equations) when these measures are not independent. If the contralateral limb is used as a comparator in unilateral pathology, strong evidence must exist that the underlying pathology has not altered the measures of interest in this contralateral limb.

Bilateral adrenal pathology: Conn syndrome and autonomous cortisol secretion

this case report presents the route of a patient with bilateral adrenal pathology and severe complaints, who where admitted to the Ukrainian Scientific and Practical Center for Endocrine Surgery, Transplantation of Endocrine Organs and Tissues of MoH of Ukraine as scheduled. The selective blood sampling from adrenal veins, which was performed at the Center, in patient with bilateral adrenal pathology, is analyzed. This method is the gold standard of diagnosis, which allows to choose the optimal method of treatment for such patients.

The involvement of language-associated networks, tracts, and cortical regions in frontotemporal dementia and amyotrophic lateral sclerosis: Structural and functional alterations.

Language deficits are cardinal manifestations of some frontotemporal dementia (FTD) phenotypes and also increasingly recognized in sporadic and familial amyotrophic lateral sclerosis (ALS). They have considerable social and quality-of-life implications, and adaptive strategies are challenging to implement. While the neuropsychological profiles of ALS-FTD phenotypes are well characterized, the neuronal underpinnings of language deficits are less well studied. A multiparametric, quantitative neuroimaging study was conducted to characterize the involvement of language-associated networks, tracts, and cortical regions with a panel of structural, diffusivity, and functional magnetic resonance imaging (MRI) metrics. Seven study groups were evaluated along the ALS-FTD spectrum: healthy controls (HC), individuals with ALS without cognitive impairment (ALSnci), C9orf72-negative ALS-FTD, C9orf72-positive ALS-FTD, behavioral-variant FTD (bvFTD), nonfluent variant primary progressive aphasia (nfvPPA), and semantic variant PPA (svPPA). The integrity of the Broca's area, Wernicke's area, frontal aslant tract (FAT), arcuate fascicle (AF), inferior occipitofrontal fascicle (IFO), inferior longitudinal fascicle (ILF), superior longitudinal fascicle (SLF), and uncinate fascicle (UF) was quantitatively evaluated. The functional connectivity (FC) between Broca's and Wernicke' areas and FC along the FAT was also specifically assessed. Patients with nfvPPA and svPPA exhibit distinctive patterns of gray and white matter degeneration in language-associated brain regions. Individuals with bvFTD exhibit Broca's area, right FAT, right IFO, and UF degeneration. The ALSnci group exhibits Broca's area atrophy and decreased FC along the FAT. Both ALS-FTD cohorts, irrespective of C9orf72 status, show bilateral FAT, AF, and IFO pathology. Interestingly, only C9orf72-negative ALS-FTD patients exhibit bilateral uncinate and right ILF involvement, while C9orf72-positive ALS-FTD patients do not. Language-associated tracts and networks are not only affected in language-variant FTD phenotypes but also in ALS and bvFTD. Language domains should be routinely assessed in ALS irrespective of the genotype.

Progression of symptomatic bilateral rotator cuff disease

Prior studies have demonstrated that conservatively treated rotator cuff tears and rotator cuff tendinopathy may continue to progress. It is unclear whether that rate of progression differs between sides in patients with bilateral disease. This study evaluated the likelihood of progression of rotator cuff disease as confirmed via magnetic resonance imaging (MRI) in individuals with symptomatic bilateral pathology, treated conservatively for a minimum of 1 year. We identified patients with bilateral rotator cuff disease confirmed via MRI within the Veteran's Health Administration electronic database. A retrospective chart review via the Veteran's Affairs electronic medical record was performed. Progression was determined using 2 separate MRIs with a minimum of 1 year apart. We defined progression as (1) a progression from tendinopathy to tearing, (2) an increase from partial-thickness to full-thickness tearing, or (3) an increase in tear retraction or tear width of at least 5 mm. Four hundred eighty MRI studies from 120 Veteran's Affair patients with bilateral, conservatively treated rotator cuff disease were evaluated. Overall, 42% (100/240) of rotator cuff disease had progressed. No significant difference was found between progression of right vs. left rotator cuff pathology, with right shoulder pathology progressing at a rate of 39% (47/120), while left shoulder disease progressed at a rate of 44% (53/120). The likelihood of disease progression was associated with less initial tendon retraction (P value=.016) and older age (P value=.025). Rotator cuff tears are no more likely to progress on the right, as compared to the left side. Older age and less initial tendon retraction were found to be predictors of disease progression. These suggest that higher activity level may not associate with greater progression of rotator cuff disease. Future prospective studies evaluating progression rates between dominant vs. nondominant shoulders are warranted.

Discordant Bilateral Testicular Pathology Does not Affect Sperm Retrieval Rate in Bilateral Microdissection Testicular Sperm Extraction (mTESE)

To assess the incidence of discordant testicular pathology in men undergoing bilateral microdissection testicular sperm extraction (mTESE) and association with sperm retrieval rate. We performed a retrospective single-institutional review of all patients undergoing mTESE from 2007 to 2021 and aggregated clinical history, physical exam, semen analysis, and operative findings. Specimens with discordant pathology were re-reviewed by an experienced genitourinary.ßpathologist and categorized in a standardized fashion. Data were analyzed using SPSS. One hundred fourteen non-obstructive azoospermia.ßmen undergoing 132 mTESEs were identified within the study period. Eighty-five percent (112/132) of cases had pathology specimens available, and within this specific cohort the success rate was 41.9% (47/112). A total of 206 pathological reports resulted including 52.4% Sertoli cell only, 4.9% Leydig cell hyperplasia, 8.7% fibrosis, 16.5% maturation arrest, and 17.5% hypospermatogenesis. Twelve percent of testicles had more than 1 pathologic diagnosis. Sixty-six men had synchronous bilateral testicular pathology, and 11/66 (16.6%) had at least partially discordant pathology on initial review. Focused re-review by a genitourinary pathologist confirmed exclusively discordant pathology in 7/66 (10.6%) cases, with a sperm retrieval rate of 57% (4/7). The sperm retrieval rate.ßin men with discordant pathology was not significantly different from those with concordant pathology. Over 1 in 10 men undergoing mTESE may have discordant pathology between testicles, though this may not affect sperm retrieval rate.ßat the time of procedure. Clinicians should consider submitting bilateral testicular specimens for pathology to (1) clarify their outcomes data, and (2) assist with clinical decision-making and surgical planning if a repeat mTESE is indicated.

Late answers in the electroneuromyography of patients with degenerative-dystrophic spine disorders

We carried out electroneuromyography of 78 patients with degenerative-dystrophic cervical and lumbar spine disorders, which were treated at the neurosurgical department of the Irkutsk Scientific Centre of Surgery and Traumatology. The results of the study of late ENMG phenomena such as H-reflex, F-waves and A-reflex were obtained at different stages of the disease using “Neuromyan” neuromyoanalyzer. The predictable changes in late answers at different stages of the process were determined. For example, in patients with radiculopathy, the degree of neurological deficiency was minimal, and in patients with a combination of nerve root syndrome and stenotic changes, the neurological deficiency had the character of a pronounced bilateral pathology. The severity of changes in neurophysiological indicators depends on the degree of spinal stenosis. Determination of N-reflex and F-wave parameters allows us to identify subclinical forms of loss both at the level of peripheral nerves and of spinal cord segments, and the appearance of axon reflex is an evidence of a demyelinizing pathology and chronic process.

Non-osteopenic Bone Pathology After Allo-hematopoietic Stem Cell Transplantation in Patients with Inborn Errors of Immunity

PurposeThere is a lack of data on post-HSCT non-osteopenic bone pathology specifically for children with inborn errors of immunity (IEI). We collected data on non-osteopenic bone pathology in children with IEI post-HSCT over two decades in a large tertiary pediatric immunology center.MethodsDescriptive study with data analysis of bone pathology in allo-HSCT for IEI was performed between 1/1/2000 to 31/12/2018 including patients alive at follow-up to July 2022. Records were analyzed for bone pathology and risk factors. Exclusion criteria included isolated reduced bone density, fractures, and skeletal anomalies due to underlying IEI and short stature without other bone pathology. Bone pathologies were divided into 5 categories: bone tumors; skeletal dysplasia; avascular necrosis; evolving bone deformities; slipped upper femoral epiphysis.ResultsA total of 429 children received HSCT between 2000 and 2018; 340 are alive at last assessment. Non-osteopenic bone pathology was observed post-HSCT in 9.4% of patients (32/340, mean 7.8 years post-HSCT). Eleven patients (34%) had > 1 category of bone pathology. Seventeen patients (17/32; 53%) presented with bilateral bone pathology. The majority of patients received treosulfan-based conditioning (26/32; 81.2%). Totally, 65.6% (21/32) of patients had a history of prolonged steroid use (> 6 months). Pain was the presenting symptom in 66% of patients, and surgical intervention was required in 43.7%. The highest incidence of bone pathologies was seen in Wiskott-Aldrich syndrome (WAS) (n = 8/34; 23.5%) followed by hemophagocytic lymphohistiocytosis patients (n = 3/16; 18.8%).ConclusionNon-osteopenic bone pathology in long-term survivors of allo-HSCT for IEI is not rare. Most patients did not present with complaints until at least 5 years post-HSCT highlighting the need for ongoing bone health assessment for patients with IEI. Children presenting with stunted growth and bone pathology post-HSCT should undergo skeletal survey to rule out development of post-HSCT skeletal dysplasia. Increased rates and complexity of bone pathology were seen amongst patients with Wiskott-Aldrich syndrome.

HEMOGLOBIN C TRAIT PRESENTING WITH BILATERAL CENTRAL RETINAL VEIN OCCLUSION.

To report a case of bilateral sequential, central retinal vein occlusion (CRVO) in a man with newly diagnosed hemoglobin C trait. A 67-year-old man presented with a one-month history of declining visual acuity. He was diagnosed with left CRVO. Bilateral temporal retinal ischemia and arteriovenous anastomoses on fluorescein angiography suggestive of sickle cell retinopathy prompted a systemic work-up. Hemoglobin electrophoresis revealed an underlying hemoglobin C trait. Six-months after his initial presentation, the patient developed symptomatic right CRVO. The initial left CRVO was complicated by optic disc swelling and macular edema. Intravitreal antiangiogenic therapy was initiated and the macular edema resolved. The left eye subsequently developed an epiretinal membrane which was surgically removed. Macular edema in the right eye also resolved after intravitreal antiangiogenic therapy. This is the first reported case of bilateral CRVO in a case of hemoglobin C trait. It is possible that erythrocyte inflexibility, caused by hemoglobin C-induced dehydration and crystallization, acted concomitantly with hypertension to produce occlusive microangiopathy. This case highlights the need for further investigation in patients presenting with central retinal vein occlusion, especially when bilateral, or when retinal angiography reveals bilateral pathology.

Comparison of the Clinical Outcomes and Complications of Simultaneous vs Staged Bilateral Total Ankle Arthroplasty: A Single-Center Comparative Cohort Study

Category: Ankle Arthritis; Ankle; Hindfoot Introduction/Purpose: The utilization of total ankle arthroplasty (TAA) has increased over the past decade to include bilateral TAAs. The risk-benefit profiles of simultaneous versus staged joint arthroplasty continues to be debated in the literature. There are limited case series reporting outcomes after bilateral TAA with no previous comparison of simultaneous versus staged TAA. It is important to study patients with bilateral pathology as they represent a unique population often with a differing arthritis etiology and an overall more debilitating condition. Thus, we aim to compare bilateral simultaneous versus staged TAAs including perioperative complications and patient reported outcome measures (PROMs). Methods: We performed a comparative cohort study of patients who underwent primary TAA from 2007 to 2019 at a single academic center. Inclusion criteria were primary bilateral TAA performed in simultaneous or staged fashion in patients over 18 years of age. Exclusion criteria were patients with less than two-years follow-up and those with previous tibiotalar arthrodesis or infection. Patient demographics, comorbidities, perioperative complications, and PROMs were collected. PROMs included preoperative and postoperative visual analog scale (VAS) for pain, the Short Form-36 (SF-36) Health Survey, the American Orthopaedic Foot and Ankle Society (AOFAS) score, and the Short Musculoskeletal Function Assessment (SMFA) bother and function sub-scores. Bivariate tests of significance were used to compare variables between the two cohorts. Results: Fifty patients were included with an average clinical follow-up was 52.2 (+-27.3; range 24-109) months. The mean time between staged TAA surgeries was 17.5 months (+-20.1, range 3-74). The mean age was 64.3 (+-10.6, range 21-76) years with 32 (64.0%) men. Many patients had primary osteoarthritis (n=28, 56.0%). Both cohorts experienced improvement in all PROMs at one year, which were maintained at final follow-up with no significant between-group differences (p &gt;0.05). There were no differences in perioperative complication rates with similar overall complications (22.0% vs. 24.0%; p=0.7788) and reoperations (6.0% vs 5.0%; p=0.7354) between the simultaneous and staged cohorts, respectively. The two-year and five-year reoperation-free survival were 96.0% and 90.0% for the staged cohort and 94.0% and 88.0% for the simultaneous cohort, respectively (p=0.4612) Both cohorts had 100% failure-free survival up to eight-years postoperative. One patient in the simultaneous cohort required metal component revision at eight years postoperative. Conclusion: The results of bilateral simultaneous TAA, including patient reported outcomes, perioperative complications, and component survival are comparable to patients undergoing staged TAA. When performed under surgeon expertise in appropriately selected patients, we advocate that simultaneous bilateral TAA is a safe and effective method for the treatment of bilateral end-stage ankle osteoarthritis. Potential benefits of simultaneous TAA warranting further investigation include decreased anesthesia events, surgery time, tourniquet time, length of hospitalization, recovery and rehabilitation time, and overall cost. Future investigations will include dedicated analyses of radiographic outcomes and cost comparisons between these two cohorts.

Clinical Outcomes and Complications of Simultaneous or Sequential Bilateral Total Ankle Arthroplasty: A Single-Center Comparative Cohort Study.

The risk-benefit profiles of simultaneous total ankle arthroplasty (TAA) compared with sequential TAA continue to be debated. There are limited case series reporting outcomes after bilateral TAA, with no previous comparison of simultaneous TAA with sequential TAA. Patients with bilateral pathology represent a unique population with an overall more debilitating condition. Thus, we aimed to compare bilateral simultaneous and sequential TAAs, including perioperative complications and patient-reported outcome measures. We performed a comparative cohort study of patients who underwent primary bilateral TAA, performed in a simultaneous or sequential fashion, from 2007 to 2019 at a single academic center. Data on patient demographic characteristics, comorbidities, perioperative complications, reoperations, and implant failures were collected. Patient-reported outcome measures included preoperative and postoperative visual analog scale (VAS) scores for pain, Short Form-36 Health Survey (SF-36) scores, and Short Musculoskeletal Function Assessment (SMFA) scores. A total of 50 patients (100 ankles) were included, with 25 patients (50 ankles) each in the bilateral simultaneous and sequential cohorts. The mean follow-up was 52.2 ± 27.3 months (range, 24 to 109 months). The mean time between sequential TAAs was 17.5 ± 20.1 months (range, 3 to 74 months). The mean patient age was 64.3 ± 10.6 years (range, 21 to 76 years), and 32 (64.0%) were men. The majority of patients (28 patients [56.0%]) had primary osteoarthritis. Both cohorts had equivalent preoperative patient-reported outcome measures and experienced improvements in all measures, which were maintained at the final follow-up with no significant between-group differences (all p > 0.05). There were no differences between the simultaneous TAA group and the sequential TAA group in perioperative complication rates (22.0% compared with 24.0%; p = 0.7788), reoperations (12.0% compared with 10.0%; p = 0.7354), 5-year reoperation-free survival (88.0% compared with 90.0%; p = 0.4612), or failure-free survival (100%). One patient in the simultaneous TAA cohort required metal component revision at 8 years postoperatively. The patient-reported outcome measures, complications, and prosthesis survival of patients who underwent bilateral simultaneous TAA were comparable with those of patients who underwent bilateral sequential TAA. We advocate that simultaneous bilateral TAA is a safe and effective method for the treatment of bilateral end-stage ankle osteoarthritis. Therapeutic Level III . See Instructions for Authors for a complete description of levels of evidence.

Atypical femur fractures associated with bisphosphonate therapy: post-operative outcomes.

Bisphosphonates are commonly used medication for the treatment of osteoporosis, and a well-established complication of this medication is bisphosphonate-associated atypical femur fractures (BAAFFs). The aim of this study was to assess the post-operative functional and radiographic outcomes of surgically treated BAAFFs. An analysis of patients treated at a university-affiliated institution was performed. Patients who had undergone surgical fixation for a subtrochanteric or shaft of femur fracture which had been classified as atypical and treated with bisphosphonate therapy at the time of fracture were included. The outcome measures assessed included post-operative complications, length of stay, discharge destination, post-operative function, independence in activities of daily living (ADLs) and fracture union. Twenty patients were included in this study with a mean age of 75.2years. The cohort was predominantly female. The average duration of bisphosphonate therapy was 7.35years. Nine patients had contralateral bisphosphonate-related stress reactions at the time of their initial fracture and underwent prophylactic surgical intervention. The majority of patients received cephalomedullary nail fixation (95%) with more than half (65.0%) of the cohort experiencing one or more post-operative complications. The median length of stay was 6.5days and 50% of the cohort required inpatient rehabilitation. At final review, independent mobilisation was recorded in only 10.0% of patients, and 70% of patients were dependent with their ADLs at their latest follow-up. Average follow-up was 8months, and only six cases demonstrated union at the six-month review, with delayed union between 9 and 12months being common. Patients with BAAFFs experience high rates of complications, record poor post-operative functional outcomes, and demonstrate a delayed time to union. Nearly half of our cohort had radiographic evidence of bilateral pathology.