A modified analysis protocol for the PhNR test.

Purpose: Several studies have reported that glaucoma patients have abnormal photopic negative response (PhNR) results compared to reference control subjects. The International Society for Clinical Electrophysiology of Vision (ISCEV) released an extended protocol for PhNR (I-PhNR) in 2018. The purpose of this study was to compare the I-PhNR protocol to a similar protocol modified (M-PhNR) to enhance the performance of the method in detecting glaucomatous damage.

Congenital Myasthenic Syndromes in Belgium: Genetic and Clinical Characterization of Pediatric and Adult Patients.

Background: Congenital myasthenic syndromes (CMS) are a group of genetic disorders characterized by impaired neuromuscular transmission. CMS typically present at a young age with fatigable muscle weakness, often with an abnormal response after repetitive nerve stimulation (RNS). Pharmacologic treatment can improve symptoms, depending on the underlying defect.

What are the perspectives of patients with hand and wrist conditions, chronic pain, and patients recovering from stroke on the use of patient and outcome information in everyday care? A Mixed-Methods study.

Purpose: To evaluate the patients' perspectives on the use of patient- and outcome information tools in everyday care and to investigate which characteristics affect general understanding and perceived value of patient- and outcome information.

Methods: This mixed-methods study included surveys and interviews on understanding, experience, decision-support, and perceived value in patients with hand and wrist conditions and chronic pain. We synthesized our quantitative and qualitative findings using a triangulation protocol and identified factors independently associated with general understanding and perceived value of patient- and outcome information using hierarchical logistic regression.

Dominant mutations causing axonal Charcot-Marie-Tooth disease expand -associated diseases.

Pathogenic variants in six aminoacyl-tRNA synthetase (ARS) genes are implicated in neurological disorders, most notably inherited peripheral neuropathies. ARSs are enzymes that charge tRNA molecules with cognate amino acids. Pathogenic variants in asparaginyl-tRNA synthetase () cause a neurological phenotype combining developmental delay, ataxia and demyelinating peripheral neuropathy.

Contracturing granulomatous myositis in a patient with rheumatoid arthritis: a case report.

Contracturing granulomatous myositis is a rare myopathy in which patients present with flexion contractures of the upper limbs in addition to slowly progressive muscle weakness and pain. Whether it represents a distinct nosological entity remains a point of discussion. We present a patient with isolated granulomatous disease of the muscle that responded very well to intravenous immunoglobulins after treatment failure of corticosteroids and methotrexate.

Long-term follow-up of torpedo maculopathy: a case series and mini-review.

Background: Torpedo maculopathy (TM) is a rare, congenital condition characterized by an oval-shaped, chorioretinal lesion in the temporal macula of unknown etiology. To our knowledge, the longest reported follow-up of TM is 5 years. Herein we report 10 years of follow-up on two patients with TM to further characterize the long-term natural history of the condition.

Tailoring and Evaluating Treatment with the Patient-Specific Needs Evaluation: A Patient-Centered Approach.

Background: No patient-reported instrument assesses patient-specific information needs, treatment goals, and personal meaningful gain (PMG), a novel construct evaluating individualized, clinically relevant improvement. This study reports the development of the Patient-Specific Needs Evaluation (PSN) and examines its discriminative validity (ie, its ability to distinguish satisfied from dissatisfied patients) and test-retest reliability in patients with hand or wrist conditions.

Methods: A mixed-methods approach was used to develop and validate the PSN, following Consensus-Based Standards for the Selection of Health Measurement Instruments guidelines, including pilot testing, a survey (pilot, n = 223; final PSN, n = 275), cognitive debriefing ( n = 16), expert input, and validation.

Changes in illness perception, pain catastrophizing, and psychological distress following hand surgeon consultation: A prospective study.

Background: Baseline mindset factors are important factors that influence treatment decisions and outcomes. Theoretically, improving the mindset prior to treatment may improve treatment decisions and outcomes. This prospective cohort study evaluated changes in patients' mindset following hand surgeon consultation.

Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.

Background: The diagnosis of patients with mutations in the VCP gene can be complicated due to their broad phenotypic spectrum including myopathy, motor neuron disease and peripheral neuropathy. Muscle MRI guides the diagnosis in neuromuscular diseases (NMDs); however, comprehensive muscle MRI features for VCP patients have not been reported so far.

Methods: We collected muscle MRIs of 80 of the 255 patients who participated in the "VCP International Study" and reviewed the T1-weighted (T1w) and short tau inversion recovery (STIR) sequences.

A homozygous loss of function variant in POPDC3: From invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype.

Recessive pathogenic variants in POPDC3 have recently been associated with the rare limb-girdle muscular dystrophy (LGMD) subtype LGMDR26. We studied three siblings and a distantly related individual with a skeletal muscle disorder, harboring the c.486-6T>A splice site variant in POPDC3 in homozygosity.

Treatment Invasiveness and Illness Perceptions Are Strongly Associated With Outcome Expectations in Patients Treated for Hand or Wrist Conditions: A Cross-sectional Study.

Background: Multiple studies have shown that more-positive outcome expectations are associated with better treatment outcomes. Although this has not been shown to represent a causal relationship, there nonetheless is an interest in positively modifying outcome expectations to improve treatment outcomes. However, little is known about what is independently associated with outcome expectations in clinical practice.

Distinct features in adult polyglucosan body disease: a case series.

Adult polyglucosan body disease (APBD) is caused by bi-allelic pathogenic variants in GBE1 and typically shows middle age onset urinary symptoms followed by progressive gait disturbances and possibly cognitive decline. Here we present a Belgian cohort of four patients from three families showing both classical and atypical signs of APBD. By clinical phenotyping, detailed neuroimaging of both central nervous system and skeletal muscle, genetic and biochemical testing, we confront our findings with the classical presentation of adult polyglucosan body disease and emphasize the importance of a multidisciplinary approach when diagnosing these patients.

A Pilot Study of the Effects of Swimming Goggles on Meibomian Glands.

Objectives: This study evaluated whether swimming goggle wear contributes to meibomian gland (MG) atrophy or functional change.

Methods: Subjects included minimal goggle wear experience (normal subjects) and maximal goggle wear experience (competitive swimmers). Principal outcome measures were meiboscore and percent MG area remaining percent gland area remaining [PGAR]).

Neurological features of Noonan syndrome and related RASopathies: Pain and nerve enlargement characterized by nerve ultrasound.

This study aimed to assess the nature of peripheral nervous system (PNS) involvement in three patients with Noonan syndrome (NS) or NS with multiple lentigines (NSML) as a related RASopathy, presenting primary with intractable neuropathic pain. We studied three unrelated adult patients with severe neuropathic pain and muscle weakness of the limbs. Nerve conduction studies and needle electromyography (EMG) were performed and PNS involvement was assessed by nerve ultrasound imaging, complemented with spinal magnetic resonance imaging (MRI) for the evaluation of proximal nerve segments.

Which Factors Are Associated With Satisfaction With Treatment Results in Patients With Hand and Wrist Conditions? A Large Cohort Analysis.

Background: Satisfaction with treatment results is an important outcome domain in striving for patient-centered and value-based healthcare. Although numerous studies have investigated factors associated with satisfaction with treatment results, most studies used relatively small samples. Additionally, many studies have only investigated univariable associations instead of multivariable associations; to our knowledge, none have investigated the independent association of baseline sociodemographics, quality of life, improvement in pain and function, experiences with healthcare delivery, and baseline measures of mental health with satisfaction with treatment results.

Contrast Sensitivity in Early to Intermediate Age-Related Macular Degeneration (AMD).

Purpose: Previous studies indicated that advanced age-related macular degeneration (AMD) affects contrast sensitivity (CS) in humans. The CS results for early/intermediate AMD patients are contradictory. The purpose of this study was to determine if CS testing discriminates early/intermediate AMD patients with normal acuity from normal patients.