Proximal Arm Research Articles

Does hinge sidedness influence laterality of C5 palsy after expansile open-door cervical laminoplasty?

Cervical expansile open-door laminoplasties (EOLPs) have an open side and a hinge side, with the open side being bridged by grafts or miniplates. The authors explored the possibility that the open-door side might have a greater incidence of C5 palsy due to a greater stretch of the ipsilateral C5 nerve root. This study was a retrospective review of prospectively collected data over a period of 25 years specifically assessing surgical complications. Included were patients who underwent EOLP for myelopathy, radiculopathy, or mild central cord injuries (American Spinal Injury Association Impairment Scale [AIS] grade D). Exclusion criteria included preexisting C5 weakness; patients with AIS grade A, B, or C injury; and added instrumentation or additional surgical procedures. Patients were monitored postoperatively for C5 palsy or any other complications. A comparison group included patients who underwent cervical laminectomy and fusion (CLF). A total of 327 laminoplasties were collected, and 31 patients were excluded because of severe spinal cord injury (AIS grades A-C), 3 for preoperative C5 weakness, and 21 for instrumentation or additional surgical procedures. Thus, 272 patients were analyzed with a mean age of 59.9 years (range 22-88 years). Diagnoses at presentation were cervical myelopathy (84.1%), central cord syndrome (7.2%), cervical myeloradiculopathy (3.4%), ossification of the posterior longitudinal ligament (1.9%), and other (3.4%). The most common complications were C5 palsy (n = 7, 2.6%) and wound infection (n = 7, 2.6%). Of the 7 cases of postoperative C5 palsies in this study, 6 occurred on the side of the open door. Of the C5 palsies, 2 were mild, 3 were moderate, and 2 were severe. Two of the 7 C5 palsies had a delayed (> 24 hours) onset. The C5 palsy incidence after CLF was 2.7% with no side preference. C5 palsy after cervical decompression for myelopathy is a known occurrence, with a rate of 2.6% in the current study. The authors found that C5 palsies more commonly occur on the open side of the laminoplasty. This could be due to a greater manipulation of the nerve root on the side of the open door or greater stretch of the C5 root on the open-door side. If clinical symptoms and anatomical stenosis are symmetric, the authors recommend creating the laminoplasty hinge on the patient's dominant side to minimize potential loss of dominant proximal arm function.

Poster 245: Clinical Measurement of the Standard Q-Angle Correlates Poorly with Tibial Tuberosity to Trochlear Groove Distance in Awake Patients and Anesthetized Patients with Patella Alta and Trochlear Dysplasia

Objectives: The quadriceps angle (Q-angle) measures the force vector of pull of the extensor mechanism of the knee. A larger Q-angle is thought to be a predisposing factor for patellar dislocation, but previous literature has reported poor reliability and validity of clinically measured Q-Angle. In response to poor reliability, a new “Standard Q-Angle” (SQA) was developed by Merchant et al. (Merchant 2020) in an attempt to create a standardized and repeatable method of clinically measuring the Q-Angle. The SQA may be a practical, inexpensive, and valuable part of physical examinations to help clinicians decide if concomitant medializing osteotomy is indicated in patellar stabilization procedures. However, SQA has not yet been validated in patients with anatomic risk factors for recurrent patellar instability such as patella alta and trochlear dysplasia. Furthermore, while SQA has previously been demonstrated to have strong interrater reliability, it has never been shown to correlate with standardized measurements for a lateralized tibial tuberosity, such as the Tibial Tuberosity – Trochlear Grove (TT-TG) distance. Therefore, the purpose of our study was to determine the correlation between SQA and TT-TG distance in patients with recurrent patellar instability. We hypothesized that there would be a positive correlation between SQA and TT-TG distance. 1. Merchant AC, Fraiser R, Dragoo J, Fredericson M. A reliable Q angle measurement using a standardized protocol. Knee. 2020;27(3):934-939. Methods: Patients at a single institution treated by a single surgeon with recurrent patellar instability who had previously obtained a dynamic 4D CT scan were included in this study. Patients who had previous patellar stabilization procedures were excluded. The Standard Q-angle was measured as previously described by Merchant et al. (Merchant 2020). The patient was placed in the supine position with the knee extended. A long-arm goniometer was centered over the patella with the distal arm over the tibial tuberosity and the proximal arm extended up to the anterior superior iliac spine (ASIS). The examiner then centered the patella within the trochlear groove and the SQA was measured. A second examiner stood at foot of the patient’s bed to confirm positioning. Measurements were taken in the office, as well as in the operating room after the induction of general anesthesia. All measurements were performed by the senior author (***). Utilizing 4D CT scans, the TT-TG, Caton-Deschamps index (CDI), and lateral trochlear inclination (LTI) were measured as previously described. Patients whose CDIs were between 0.8 and 1.2 were considered to have normal patellar height. Patients whose LTIs were >11° were considered to have normal LTI, which has been shown to have a sensitivity of 93% and a specificity 87% for detecting trochlear dysplasia. Mean and standard deviation values were calculated for patient demographic information, and correlation coefficients were calculated to compare SQA with TT-TG distance in both awake and anesthetized patients. The statistical software Stata was utilized for all analyses (StataCorp. 2021. Stata Statistical Software: Release 17. College Station, TX). Results: Fifty-seven patient knees were included in the study. The mean age was 22 years-old (±6 years). For awake patients, the correlation coefficient (R2) between SQA and TT-TG was -0.006 (Figure 1), and in anesthetized patients R2 = 0.093 (Figure 2). In the “normal patellar height” group, the R2 value was higher in the anesthetized group (R2 = 0.334) than the awake group (R2 = 0.239). In the normal lateral trochlear inclination group, there was also a greater R2 value in the anesthetized group (R2 = 0.403) than the awake group (R2 =0.093). The correlation between SQA and TT-TG was the strongest in anesthetized patients with both a CDI < 1.2 and LTI >11° (R2 = 0.635). Conclusions: There was a strong positive association between SQA and TT-TG in anesthetized patients with normal patellar height and a normal lateral trochlear inclination. However, in awake patients and patients with anatomic risk factors for recurrent patellar instability there was only a weak association between SQA and TT-TG. The SQA may be able to provide useful information, but only in selected cases. Therefore, it remains important to have objective radiographic measurements to characterize the position of the tibial tuberosity when planning patellar stabilization surgery.

Bifurcation of the Brachial Artery into Brachioradial and Brachioulnar Arteries in the Proximal Arm: Case Report and Clinical Significance

During anatomical dissection of fifty donors in the 2020 undergraduate first-year anatomy course at the Uniformed Services University of the Health Sciences, a high origin of the radial and ulnar arteries, also known as a brachioradial artery and a brachioulnar artery, was observed on the left arm of a 90 year-old White female donor. The bifurcation of the brachial artery occurred in the proximal third of the arm. Both the left brachioradial and left brachioulnar arteries ran superficial and medial to the biceps brachii muscle. The brachioulnar artery continues as the UA in the forearm, ran superficial and lateral to the flexor carpi ulnaris muscle, traversed the flexor retinaculum, and continued to form the superficial arterial palmar arch. The brachioradial artery ran deep to the pronator teres muscle and continued as the RA in the forearm. It presented with an atypical branching pattern and was tortuous until it reached the hand. On the dorsum of the hand, the radial artery runs superficial to the first dorsal interosseous muscle, parallel to the first metacarpal bone. It also reached the palmar side of the hand in an unusual manner. Medical professionals, especially radiologists, orthopedic and vascular surgeons, need to be aware of these variations to avoid iatrogenic injuries during normal procedures, such as venipuncture and intravenous injections. Knowledge of these variations is also important during invasive procedures, such as elbow reconstructive surgery, percutaneous brachial catheterization, and when creating an arteriovenous fistula using the radial artery. When such variations are suspected, Doppler and angiogram studies are necessary.

Lyme Encephalomyeloradiculitis Presenting with Brachial Diplegia (P9-10.001)

<h3>Objective:</h3> Lyme disease presenting with encephalomyelitis is rare. It often presents with non-localizing symptoms like confusion or personality changes. Focal symptoms can include hemiparesis, aphasia or ataxia. Acute brachial diplegia due to Lyme disease, although rare, has been previously reported. Our case offers additional insight into the underlying mechanisms of brachial diplegia. <h3>Background:</h3> A 73 year old man presented with mild upper thoracic back pain followed by progressive left greater than right arm weakness. Physical exam revealed a flicker of contraction in the left upper extremity and right thenar muscles. Mild proximal right arm weakness was noted. Lower extremity sensorimotor exam was normal. He was hyporeflexic in bilateral upper extremities and hyperreflexic in the lower extremities. He developed intermittent episodes of confusion, hyponatremia and a neurogenic bladder over the following week. His wife later reported he had a bulls-eye rash on his calf one month prior to presentation. <h3>Design/Methods:</h3> A work up for compressive myelopathy and cerebrovascular etiologies was negative. EMG revealed a demyelinating, predominantly motor neuropathy limited to the upper extremities, prompting treatment with IVIg. Serum Lyme PCR was positive. Cerebrospinal fluid showed lymphocytic pleocytosis, elevated protein and positive Lyme antibody. Diffuse nerve root edema was noted on brachial plexus MRI. <h3>Results:</h3> The patient was treated with intravenous ceftriaxone for 4 weeks. At his 4 week follow-up, left arm strength was at least 4/5 in all muscles. Right arm strength was normal proximally and at least 4/5 in all distal muscles. He reported paresthesia in his hands. He continues to require self-catheterization twice daily for ongoing urinary retention. <h3>Conclusions:</h3> This case illustrates that brachial diplegia in the setting of Lyme disease can be a result of radiculitis and proximal demyelination without significant motor axon loss. Radiculitis can precede encephalomyelitis. Early identification of the disease is crucial as treatment with antibiotics leads to marked improvement. <b>Disclosure:</b> Dr. Aschen has nothing to disclose. Dr. McLeod has nothing to disclose. Mary Kane-Brock has nothing to disclose. Daniel Brooks, MD has nothing to disclose. Dr. Desai has nothing to disclose.

Amyloid Myopathy as Initial Manifestation of ATTRwt: A Rare Phenomenon (P9-8.007)

<h3>Objective:</h3> To describe a rare presentation of amyloid myopathy. <h3>Background:</h3> Wild-type transthyretin amyloidosis (ATTRwt) is an age-related progressive disease with limited treatment options. Cardiomyopathy and peripheral neuropathy are well-recognized manifestations of transthyretin (ATTRwt) amyloidosis but myopathy is rarely the initial presentation. <h3>Design/Methods:</h3> NA <h3>Results:</h3> An 80-year-old man presented with slowly progressive bilateral lower limb weakness for over 5 years making him bedridden for one year. He denied any oculo-bulbar, sensory, or autonomic symptoms and reported no family history of neuromuscular disease. Physical examination revealed severe symmetric weakness of hip flexors and quadriceps and mild weakness of proximal arms bilaterally. Laboratory workup showed normal CK and no myositis antibodies were detected. Screen for monoclonal protein was negative. EMG performed was consistent with an irritable chronic myopathic process predominantly affecting the proximal leg muscles, along with a mild length-dependent peripheral neuropathy. Right quadriceps biopsy revealed fairly diffuse atrophic changes associated with focal amyloid deposition within adipose tissue and the blood vessel wall without any inflammation. Mass spectrometry suggested ATTR type amyloid and TTR genetic testing was negative confirming diagnosis of ATTRwt amyloid myopathy. A cardiac PYP scan showed diffusely increased myocardial uptake of the radiotracer. Patient was started on Tafamidis by cardiologist to slow disease progression. <h3>Conclusions:</h3> Neurological manifestations of ATTRwt are being increasingly recognized but myopathy is rarely reported as an initial presentation. The clinical presentation of myopathy can mimic other relatively common neuromuscular disorders and hence a high index of suspicion and through workup is needed to confirm diagnosis. Patients can have concomitant cardiomyopathy, which is potentially treatable, and therefore increased awareness is required. Supportive therapy remains the mainstay of therapy for neurological involvement, but future studies can pave the way for targeted treatments. <b>Disclosure:</b> Dr. Bovino has nothing to disclose. Dr. Young has nothing to disclose. Peter Pytel has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for Colianni&amp;Colianni. Peter Pytel has received publishing royalties from a publication relating to health care. Dr. Nadkarni has nothing to disclose. Dr. Paul has nothing to disclose.

Optimal Blood Flow Restriction Occlusion Pressure for Shoulder Muscle Recruitment With Upper Extremity Exercise

Background: As blood flow restriction (BFR) utilization continues to rise, it is crucial to define optimal parameters for use. Currently unknown are the effects of occlusion level during BFR on muscle activity in the proximal shoulder. Purpose/Hypothesis: The purpose of this study was to compare electromyographic amplitude (EMGa) of shoulder musculature during exercise using limb occlusion percentages (LOPs). The authors hypothesized that EMGa would increase concurrently with occlusion. Study Design: Controlled laboratory study. Methods: α Fifteen healthy adults were recruited and underwent 4 experimental sessions, performing 3 common rotator cuff exercises at low intensity (20% maximal strength) to failure in the following order: cable external rotation (ER), cable internal rotation (IR), and dumbbell scaption. Exercises were completed at a different occlusion pressure (0%, 25%, 50%, and 75% LOP— order randomized) applied at the proximal arm. EMGa was recorded from shoulder musculature proximal to the occlusion site and averaged across 5-repetition intervals and overall for the first 30 repetitions. An analysis of variance repeated on occlusion pressure followed by a Bonferroni post hoc test was used to compare EMGa, repetitions to fatigue, and ratings of discomfort (visual analog scale [VAS], 0-10) between occlusion pressures. The type 1 error was set at α = .05 for all analyses. Results: Significant effects of the occlusion level on shoulder muscle EMGa were observed for all exercises (P < .05) with diminishing returns above 50% LOP (overall). For ER, elevations in EMGa were observed at ≥50% LOP for the anterior deltoid, middle deltoid, infraspinatus, and trapezius compared with 0% LOP (P < .05). For IR, elevations in EMGa were observed at ≥25% LOP for the anterior deltoid and trapezius compared with 0% LOP (P < .05). For the teres minor, a significant elevation in EMGa occurred at 75% LOP compared with 0%, 25%, and 50% LOP (P < .05). A decrease in EMGa was observed at ≥50% LOP compared with 0% LOP for the posterior deltoid (P < .05). For scaption, an increase in EMGa was observed at ≥25% LOP for the infraspinatus and teres minor muscles, at 75% LOP for the posterior deltoid, and at ≥50% LOP for the trapezius compared with 0% LOP (P < .05). Decreases in repetitions to failure relative to 0% LOP were observed at 75% LOP for ER (0%: 47 ± 5; 75%: 40 ± 2; P = .034), IR (0%: 82 ± 10; 75%: 64 ± 5; P = .017), and scaption (0%: 85 ± 9; 75%: 64 ± 6; P < .001). A significant linear increase in discomfort was observed for all exercises with increasing occlusion pressures (VAS: 0-10, 0% → 75% LOP; ER: 2.2 ± 0.4 → 7.2 ± 0.3; IR: 1.3 ± 0.2 → 6.1 ± 0.6; scaption: 1.3 ± 0.4 → 6.1 ± 0.4; P < .01). Conclusion: There are several differences in muscle activation about the shoulder based on exercise and occlusion when utilizing BFR. Increasing the percentage of limb occlusion leads to heightened EMGa with diminished returns past 50% LOP when considering muscle activation, discomfort, and achievable exercise volume. Clinical Relevance: These findings may be used to refine upper extremity BFR guidelines.

Objective Evaluation of Laparoscopic Experience Based on Muscle Electromyography and Accelerometry Performing Circular Pattern Cutting Tasks: A Pilot Study.

Purpose.The aim of this work is to present a new physical laparoscopy simulator with an electromyography (EMG)/accelerometry-based muscle activity recording system, EvalLap EMG-ACC, and perform objective evaluation of laparoscopic skills based on the quantification of muscle activity of participants with different levels of laparoscopic experience. Methods. EMG and ACC signals were obtained from 14 participants (6 experts, 8 medical students) performing circular pattern cutting tasks using a laparoscopic box trainer with the Trigno (Delsys Inc, Natick, MA) portable wireless system of 16 wireless sensors. Sensors were placed on the proximal and distal muscles of the upper extremities. Seven evaluation metrics were proposed and compared between skilled and novice surgeons. Results. The proximal and distal arm muscles (trapezius, deltoids, biceps, and forearms) were most active while executing laparoscopic tasks. Laparoscopic experience was associated with differences in EMG amplitude (), muscle activity (), hand acceleration (), user movement (), and muscle fatigue. For the cutting task, the deltoid, bicep, forearm EMG amplitude, and user movement significantly differed between experience groups. Conclusion. This pilot study demonstrates that different muscle groups are preferentially activated during laparoscopic tasks depending on the level of surgical experience. Expert surgeons showed less muscle activity compared with novices. EvalLap EMG-ACC represents a promising means to distinguish surgeons with basic cutting skills from those who have not yet developed these skills.

Diagnostic value of proximal cutaneous nerve biopsy in brachial and lumbosacral plexus pathologies

Brachial and lumbosacral plexopathies can result from numerous non-traumatic etiologies, including those of inflammatory, autoimmune, or neoplastic origin, that often require nerve biopsy for diagnosis. The purpose of this study was to evaluate the diagnostic efficacy of medial antebrachial cutaneous nerve (MABC) and posterior femoral cutaneous nerve (PFCN) nerve biopsies in proximal brachial and lumbosacral plexus pathology. Patients undergoing MABC or PFCN nerve biopsies at a single institution were reviewed. Patient demographics, clinical diagnosis, symptom duration, intraoperative findings, post-operative complications, and pathology results were recorded. Biopsy results were classified as diagnostic, inconclusive, or negative based on the final pathology. Thirty patients undergoing MABC biopsies in the proximal arm or axilla and five patients with PFCN biopsies in the thigh or buttock were included. MABC biopsies were diagnostic in 70% of cases overall and 85% diagnostic in cases where pre-operative MRI also demonstrated abnormalities in the MABC. PFCN biopsies were diagnostic in 60% of cases overall and in 100% of patients with abnormal pre-operative MRIs. There were no biopsy-related post-operative complications in either group. In diagnosing non-traumatic etiologies of brachial and lumbosacral plexopathies, proximal biopsies of the MABC and PFCN provide high diagnostic value with low donor morbidity.

Bilateral absence of the deep brachial artery.

The aim of the following study was to present and comprehensively describe a case of a bilateral absence of the deep brachial artery (DBA). Furthermore, its embryology and clinical significance will also be discussed. During routine dissection, a 71-year-old male cadaver with a bilateral abnormality in the DBA and its branches was found. The first branch of the brachial artery (BA) was found to be the radial collateral artery, which passed behind the radial nerve. Furthermore, the middle collateral artery originated distal to the radial collateral artery and gave off first a singular, minor muscular branch and then the superior ulnar collateral artery. Later, the preceding nutrient arteries of the humerus and the deltoid branch consecutively branched off from the middle collateral artery. Subsequently, the middle ulnar collateral artery, the inferior ulnar collateral artery, the deltoid artery, the radial artery, and the ulnar artery branched off from the BA, as adapted in the current knowledge regarding the anatomy of the upper extremity. Furthermore, detailed measurements of the distances between the mentioned arteries were carried out. In the present study, a bilateral absence of the DBA was demonstrated. Meta-analysis focusing on the anatomy of this artery has shown how variable its characteristics are. However, our case report is the first in the literature to present this extremely rare variation. Having adequate knowledge regarding the anatomy of the arteries of the proximal arm is of immense importance when performing orthopaedic and reconstructive surgeries in this area.

Monkeypox whitlow: a novel presentation.

Monkeypox is a rare zoonotic disease with a progressive increase in cases among men who have sex with men (MSM) worldwide in recent months. New complications of this infection have been described. The aim of the study was to describe this new pattern of presentation of monkeypox at the level of the finger. We present the cases of three patients with monkeypox whitlow, a new clinical presentation of monkeypox. The patients were three MSM with ages ranging from 32 to 49 years. All three had involvement of the third finger of the dominant hand as well as skin lesions at other sites. Two of the three patients had severe inflammation in the digit and proximal arm and were treated with systemic corticosteroids with significant improvement. In two of the three cases we observed onychodystrophy as a complication. All patients reported sexual intercourse with previous digital-anal penetration with the affected finger, which may be the mode of transmission. Distinguishing features that need to be considered are discussed.

Trait Mapping of Phenolic Acids in an Interspecific (Vaccinium corymbosum var. caesariense × V. darrowii) Diploid Blueberry Population.

Blueberries (Vaccinium sect. Cyanococcus) are a dietary source of phenolic acids, including chlorogenic acid (CGA) and related compounds such as acetylated caffeoylquinic acid (ACQA) and caffeoylarbutin (CA). These compounds are known to be potent antioxidants with potential health benefits. While the chemistry of these compounds has been extensively studied, the genetic analysis has lagged behind. Understanding the genetic basis for traits with potential health implications may be of great use in plant breeding. By characterizing genetic variation related to fruit chemistry, breeders can make more efficient use of plant diversity to develop new cultivars with higher concentrations of these potentially beneficial compounds. Using a large interspecific F1 population, developed from a cross between the temperate V. corymbosum var. ceasariense and the subtropical V. darrowii, with 1025 individuals genotyped using genotype-by-sequencing methods, of which 289 were phenotyped for phenolic acid content, with data collected across 2019 and 2020, we have identified loci associated with phenolic acid content. Loci for the compounds clustered on the proximal arm of Vc02, suggesting that a single gene or several closely associated genes are responsible for the biosynthesis of all four tested compounds. Within this region are multiple gene models similar to hydroxycinnamoyl CoA shikimate/quinate hydroxycinnamoyltransferase (HCT) and UDP glucose:cinnamate glucosyl transferase (UGCT), genes known to be involved in the CGA biosynthesis pathway. Additional loci on Vc07 and Vc12 were associated with caffeoylarbutin content, suggesting a more complicated biosynthesis of that compound.

Mitotic recombinatory evolution in acute leukemia

A cohort of leukemia cases is presented with ancillary testing that includes microarray studies, karyotyping, FISH, and RNA sequencing to illustrate clonal evolution. Common evolution etiology with each case is apparent homologous mitotic recombination (HMR). The cohort includes: four cases of Pre B-cell acute lymphoblastic leukemia (B-ALL) with a single translocation derivative (19)t(1;19)(q23.3;p13.3), an acute myelogenous leukemia (AML) case with a paracentric inversion of 11q13.3q23 in both homologues confirmed as a rare KMT2A-MAML2 gene fusion, and a transplant patient in AML relapse with a t(6;11)(6q27;q23) and evolution to an additional derivative 6 chromosome. The PBX1-TCF3 fusion in the t(1;19) B-ALL subgroup has long been associated with clones that show either the balanced translocation (∼25%) or the unbalanced single derivative 19 (∼75%). Evidence from the CMAs and FISH is consistent with HMR initiating at either the PBX1 translocation breakpoint or at a more proximal long arm site that mediates the evolution to the unbalanced form. This is contrary to the previous assumptions of either nondisjunction duplication of the normal homologue with loss of the translocation derivative 1 or an original trisomy 1 that loses the translocation derivative 1. Relapse from an unrelated transplant donor created unique allele dosage ratios in the microarray of the AML patient with the t(6;11) KMT2A-AFDN fusion. An HMR-based evolution initiation site proximal to the 6q27 AFDN fusion gene is evident in the microarray of chromosome 6, the known oncogenic fusion derivative. The HMR selection driver in both AML cases is very likely associated with the DNA doubling of the oncogenic fusions in 6q and 11q, respectively. Since the oncogenic derivatives in the 1;19 cases are clearly the retained derivative 19, selection for the HMR clonal evolution in 1q is apparently based on the known proliferative advantage of extra copies of 1q in B-ALL and other malignancies. Although selection-based HMR can effectively initiate at any site proximal to a driver gene fusion, it appears that the translocation breaksite is common for many translocations. In addition, evidence from HMR evolution related distal 11q mutations, numerous unbalanced CCND1/IGH translocations, and the double MAML2/KMT2A presented in this study suggest that a recombinatorial "hot spot" exists near the CCND1 gene in many rearrangements or mutations within 11q.

The Italian registry for patients with Prader–Willi syndrome

BackgroundPrader–Willi syndrome (PWS) is a rare and complex genetic disease, with numerous implications on metabolic, endocrine, neuropsychomotor systems, and with behavioural and intellectual disorders. Rare disease patient registries are important scientific tools (1) to collect clinical and epidemiologic data, (2) to assess the clinical management including the diagnostic delay, (3) to improve patients’ care and (4) to foster research to identify new therapeutic solutions. The European Union has recommended the implementation and use of registries and databases. The main aims of this paper are to describe the process of setting up the Italian PWS register, and to illustrate our preliminary results.Materials and methodsThe Italian PWS registry was established in 2019 with the aims (1) to describe the natural history of the disease, (2) to determine clinical effectiveness of health care services, (3) to measure and monitor quality of care of patients. Information from six different variables are included and collected into this registry: demographics, diagnosis and genetics, patient status, therapy, quality of life and mortality.ResultsA total of 165 patients (50.3% female vs 49.7% male) were included into Italian PWS registry in 2019–2020 period. Average age at genetic diagnosis was 4.6 years; 45.4% of patients was less than 17 years old aged, while the 54.6% was in adult age (> 18 years old). Sixty-one percent of subjects had interstitial deletion of the proximal long arm of paternal chromosome 15, while 36.4% had uniparental maternal disomy for chromosome 15. Three patients presented an imprinting centre defect and one had a de novo translocation involving chromosome 15. A positive methylation test was demonstrated in the remaining 11 individuals but the underlying genetic defect was not identified. Compulsive food-seeking and hyperphagia was present in 63.6% of patients (prevalently in adults); 54.5% of patients developed morbid obesity. Altered glucose metabolism was present in 33.3% of patients. Central hypothyroidism was reported in 20% of patients; 94.7% of children and adolescents and 13.3% of adult patients is undergoing GH treatment.ConclusionsThe analyses of these six variables allowed to highlight important clinical aspects and natural history of PWS useful to inform future actions to be taken by national health care services and health professionals.

Case Study: Reimplementation of the Proximal Third of the Arm

Introduction: Microsurgical reimplantation in patients faces challenges due to complex factors, concerning the comorbidities of the patient and the type and severity of the amputation. The one-year survival rate is 90, 9% [1]. Plastic surgeons and a multidisciplinary team will be needed to perform microsurgical techniques, such as the use of tridimensional models to reconstruct different body parts using top-notch technology [2]. This study aims to evaluate the technique of reimplantation of the third proximal left arm in a patient with a traumatic amputation. Background of the Case Study: 49-years old man suffered an amputation of his left forearm by an industrial grinding machine in his workplace on October 5th, 2017, which resulted in a total avulsion of his limb. The patient was taken to the Emergency room to perform a warm ischemic technique for around 30 minutes. Physicians kept the amputated forearm on ice for 3 hours and conducted the intraoperative ischemia for 4 hours. The surgery included an extent debridement of the devitalized muscles, injured tendons and vessels, and the osteosynthesis of the radius and ulna without complications. After one year, researchers conducted the metacarpophalangeal capsuloplasty, tenolysis of the extensors and opening of the first space and section of the pronator quadratus. Conclusion: Revascularization within the first four hours was crucial because it prevented permanent damage to the tissues. The surgery technique focused on the reconstruction of the viable tissues, resulted in the reimplantation of the forearm.

An asymmetric morbilliform eruption in an adult male

An asymmetric morbilliform eruption in an adult male

IMPACT OF VIBRATION ON TREMOR IN OLDER ADULTS WITH PARKINSON’S DISEASE

Abstract This was a randomized trial to explore the safety and efficacy of the RMBand (Resonate Forward LLC, Delaware) device to alleviate Parkinson’s Disease (PD) tremors. The RMBand applies vibration to the proximal arm and was worn on the side of tremor dominance. Thirty subjects with PD and associated tremors were randomized to receive high vs. low-frequency vibration. Tremor assessments occurred for 20 minutes before, during 20 minutes of continuous vibration, and for 20 minutes immediately post-vibration in a single 60-minute session. Assessments (MDS-UPDRS part 3 and FTM tremor scale) were performed during each of the 3 phases by blinded raters. A quantitative assessment of tremor was performed throughout the session using wearable sensors on the distal arms. Linear mixed models were used for group comparisons. No significant difference was observed between the high and low dose groups in the MDS-UPDRS part 3 or FTM tremor scale (p=0.83 and 0.48 respectively), which may be due to the crude nature of these scales. Quantitative wearable sensor data were used to assess total time with tremors during the pre-vibration, vibration, and post-vibration periods. Time with tremor during the pre-vibration period was significantly greater than that during and post-vibration (p&amp;lt; 0.0001) for both dose groups, suggesting that vibration therapy applied to the proximal arm may suppress PD tremor. No significant adverse events related to vibration therapy occurred. In conclusion, the RMBand appears safe and possibly effective for suppressing PD tremor. Further study is warranted.

A meta-analysis of vascular access outcomes in hemodialysis patients aged 75 years or older.

Several existing guidelines advocate the access creation without any specific recommendations for those patients over 75 years of age. The aim of this meta-analysis is to compare the outcomes of different vascular access procedures in the sub-group of elderly ESRD patients ⩾75 years of age. A literature search was performed using the MEDLINE and SCOPUS electronic databases. The analysis focused on studies with subgroups of elderly patients ⩾75 years of age with different vascular access procedures, and compared the failure rates of autologous versus prosthetic vascular access. Articles comparing patency rates of distal (forearm) versus proximal upper arm AVFs were also investigated. Twelve relevant studies were identified and included in the meta-analysis. The pooled results revealed a statistically significant unassisted (primary) failure rate at 24 months in favor of autologous AVFs [odds ratio (OR): 0.56, 95% CI: 0.38-0.83, p = 0.003]. A secondary analysis revealed significantly higher 12 months unassisted (primary) and secondary failure rates of forearm AVFs compared with proximal upper arm AVFs (OR: 2.14, 95% CI: 1.53-2.97, p < 0.00001 and OR: 1.76, 95% CI: 1.12-2.78, p < 0.01 respectively). An increased risk of failure of prosthetic vascular access procedures was found compared with autologous AVFs in patients ⩾75 years of age. Elderly patients ⩾75 years should not be excluded from creation of an autologous access, with proximal upper arm AVFs having better patency rates.

Atypical Myasthenia Gravis Presentation with Limb-Girdle Weakness

Myasthenia Gravis is a disorder characterized by autoantibodies targeting different proteins across the neuromuscular junction. The typical presentation of Myasthenia Gravis involves oculobulbar weakness, classically ptosis that may or may not be symmetric. Patients may also present with a more dramatic presentation of generalized weakness or even in myasthenic crisis requiring respiratory support for oxygenation. While these are the common presentations, our patient, a 63 year old male, presented with an atypical presentation of what is described as Limb-Girdle Myasthenia Gravis. This patient presented with proximal arm and leg weakness that rapidly progressed and lead to loss of reflexes, appearing to be a myelopathy prior to obtaining an electromyography/nerve conduction study which demonstrated decrement of 21% in ulnar, 22% in median, and 59% of radial nerves during 2Hz repetitive stimulation. Our patient improved with plasmapheresis and prednisone with full recovery of strength.

Atypical presentations of inclusion body myositis: Clinical characteristics and long-term outcomes.

Inclusion body myositis (IBM) typically presents with progressive weakness preferentially involving finger flexors and quadriceps. Atypical presentations have been less commonly reported. Here, we aim to describe the clinical characteristics and long-term outcomes of IBM patients with atypical presentations. We retrospectively searched the Mayo Clinic medical records to identify IBM patients with atypical disease onset, seen between 2015 and 2020. We identified 357 IBM patients, of whom 50 (14%) had an atypical presentation. Thirty-eight patients were diagnosed with IBM because they fulfilled one of the European Neuromuscular Center diagnostic categories at a later stage, 10 had all IBM histopathological features, and 2 were diagnosed on the basis of clinical and laboratory data. The most common presentation was dysphagia (50%), followed by asymptomatic hyperCKemia (24%; CK, creatine kinase), then foot drop (12%). 6% of patients presented with proximal arm weakness, 4% with axial weakness and 4% with facial diplegia. Median time from symptom onset to diagnosis was 9y. Median age at diagnosis was 70.5y. 16% of patients needed a walking aid. When tested, 86.5% of patients had impaired swallowing and 56% had elevated cytosolic nucleotidase-1A antibodies. Only 1/26 patients who received immunotherapy had minimal improvement. Upon follow-up, most patients had generalization of their weakness with a decline in their strength summated score of 0.082/mo. A significant proportion of IBM patients may have an atypical presentation. Recognition of such heterogeneity could improve early diagnosis, prevent unnecessary immunotherapy, and provide insight for future diagnostic criteria development and clinical trials.

Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome

BackgroundCat eye syndrome (CES) is a rare chromosomal disease, with estimated incidence of about 1 in 100,000 live newborns. The classic triad of iris coloboma, anorectal malformations, and auricular abnormalities is present in 40% of patients, and other congenital defects may also be observed. The typical associated cytogenetic anomaly relies on an extra chromosome, derived from an inverted duplication of short arm and proximal long arm of chromosome 22, resulting in partial trisomy or tetrasomy of such regions (inv dup 22pter-22q11.2).Case presentationWe report on a full-term newborn, referred to us soon after birth. Physical examination showed facial dysmorphisms, including hypertelorism, down slanted palpebral fissures, and dysplastic ears with tragus hypoplasia and pre-auricular pit. Ophthalmologic evaluation and heart ultrasound identified left chorioretinal and iris coloboma and ostium secundum type atrial septal defect, respectively. Based on the suspicion of cat eye syndrome, a standard karyotype analysis was performed, and detected an extra small marker chromosome confirming the CES diagnosis. The chromosomal abnormality was then defined by array comparative genome hybridization (a-CGH, performed also in the parents), which identified the size of the rearrangement (3 Mb), and its de novo occurrence. Postnatally, our newborn presented with persistent hypoglycemia and cholestatic jaundice. Endocrine tests revealed congenital hypothyroidism, cortisol and growth hormone (GH) deficiencies, which were treated with replacement therapies (levotiroxine and hydrocortisone). Brain magnetic resonance imaging, later performed, showed aplasia of the anterior pituitary gland, agenesis of the stalk and ectopic neurohypophysis, confirming the congenital hypopituitarism diagnosis. She was discharged at 2 months of age, and included in a multidisciplinary follow-up. She currently is 7 months old and shows a severe global growth failure, and developmental delay. She started GH replacement treatment, and continues oral hydrocortisone, along with ursodeoxycholic acid and levothyroxine, allowing an adequate control of glycemic and thyroid profiles as well as of cholestasis.ConclusionsCES phenotypic spectrum is wide and highly variable. Our report highlights how among the possible associated endocrine disorders, congenital hypopituitarism may occur, leading to persistent hypoglycemia and cholestasis. These patients should be promptly assessed for complete hormonal evaluations, in addition to major malformations and midline anomalies. Early recognition of such defects is necessary to decrease fatal events, as well as short and long-term related adverse outcomes.