Holiday Heart Syndrome in a 22-Year-Old Male: A Case Report.

Holiday heart syndrome (HHS) is an acute cardiac arrhythmia following an episode of binge drinking. We report a healthy 22-year-old male with HHS after one night of binge drinking. The patient had no family history of cardiomyopathy, arrhythmia, or cardiac disease. Diagnosis was made after a thorough workup, including imaging and laboratory analysis. After a two-year period with no repeat episodes of arrhythmia, the patient decided to follow up with electrophysiology on an as-needed basis. It is important for providers to consider HHS as a possible diagnosis of exclusion in cases of arrhythmia in the young population to avoid excessive healthcare costs.

Medico-legal implications of dementia following concussion in rugby football.

There is litigation in respect of dementia in ex-rugby football players. The allegation is that these ex-players have suffered a traumatic encephalopathy syndrome causing dementia and other neurological problems. The syndrome is alleged to have been caused by repeated concussion during play. It is alleged that governing bodies of rugby should have been aware, and players should have been warned, of this risk. The dilemma, for both claimants and defendants, is that there is no agreed definition of the syndrome nor are there any diagnostic tests that confirm or refute this diagnosis. This paper reviews the literature of traumatic encephalopathy syndrome and when governing bodies were aware of the possibility of rugby concussion causing dementia. The legal principles are discussed and a framework for determining the probability of an ex-rugby player having the syndrome is proposed.

Demonstrating the expertise of an expert witness in the civil court: Use of a concise CV after the judgment in Re C.

The suitability of an unregistered expert psychologist to give evidence to the Family Court was considered in Re C [2023] EWHC 345 (Fam). An important part of the judgment focused on the need for an expert witness to demonstrate, in a short, concise and relevant CV, why they have the expertise to give opinion evidence in the case. The judgment has important implications for experts in civil litigation, where the same issues arise. The case of Re C is reviewed and recommendations for a new format for part of expert reports provided in civil litigation are discussed.

The failure of subcategorization of cauda equina syndrome.

The diagnostic sub-categorization of cauda equina syndrome (CES) is used to aid communication between doctors and other healthcare professionals. It is also used to determine the need for, and urgency of, MRI and surgery in these patients. A recent paper by Hoeritzauer et al (2023) in this journal examined the interobserver reliability of the widely accepted subcategories in 100 patients with cauda equina syndrome. They found that there is no useful interobserver agreement for the subcategories, even for experienced spinal surgeons. This observation is supported by the largest prospective study of the treatment of cauda equina syndrome in the UK by Woodfield et al (2023). If the accepted subcategories are unreliable, they cannot be used in the way that they are currently, and they should be revised or abandoned. This paper presents a reassessment of the diagnostic and prognostic subcategories of cauda equina syndrome in the light of this evidence, with a suggested cure based on a more inclusive synthesis of symptoms, signs, bladder ultrasound scan results, and pre-intervention urinary catheterization. This paper presents a reassessment of the diagnostic and prognostic subcategories of CES the light of this evidence, with a suggested cure based on a more inclusive synthesis of symptoms, signs, bladder ultrasound scan results, and pre-intervention urinary catheterization.

Compartment Syndrome in the Foot and Leg.

Chronic exertional compartment syndrome is a common cause of exercise-related leg pain that can be debilitating to many athletes. Diagnosis of this syndrome is based on patient history and clinical examination in correlation with intracompartmental pressure measurement or other advanced diagnostic tests. Treatments include initial nonsurgical management, such as modification of causative activity and gait retraining with physical therapy. If symptoms persist, surgical fasciotomy may be warranted via an open or minimally invasive approach. In this article, we review the anatomy, pathophysiology, history and physical examination, diagnostic modalities, treatment, and complications of chronic exertional compartment syndrome in the athlete.

Stress Injuries in the Athlete.

Stress fractures are a common injury that present in athletes because of the high intensity and repetitive nature of many sports. These injuries require a high index of suspicion in the treating clinician to allow for timely management. Though most low-risk fractures heal well with conservative management, high-risk stress fractures as well as any fracture in the elite athlete may warrant surgical intervention as well as an augmented treatment and rehabilitation regimen.

Dance-Related Foot and Ankle Injuries and Pathologies.

Dancers are highly vulnerable to injuries due to high dynamic overload, extreme positions and motions, and excessive use. Increased load at the forefoot with jumping and high-impact lands can cause sesamoiditis and stress fractures of the metatarsals. Significant plantarflexion can lead to posterior joint impingement and flexor hallucis longus tendonitis, whereas forced dorsiflexion can cause anterior joint impingement. Most pathologies can be diagnosed on physical examination and various imaging modalities. Treatment should be tailored to the dancers' needs and should begin with a course of conservative therapy with immobilization, physical therapy, and activity cessation.

Chronic Exertional Compartment Syndrome of the Hand With Simultaneous Carpal Tunnel Syndrome and Ulnar Nerve Neuropathy: A Clinical Case Report.

Chronic exertional compartment syndrome is a reversible form of compartment syndrome that occurs with exertion and is relieved with rest. Chronic exertional compartment syndrome most commonly occurs in the lower leg and has only rarely been reported in the hand. We report a case of exertional compartment syndrome in the left hand of a 37-year-old male heavy equipment technician with concurrent carpal tunnel syndrome and ulnar neuropathy. Physical examination showed non-exertional numbness and tingling in all five digits while at rest with a reproducible Tinel's test over the carpal tunnel and Guyon's canal. Acute swelling and hand muscle weakness appeared after repetitive pinch and usage of the thenar and intrinsic musculature with acute sensory and motor changes in the ulnar nerve distribution. Elective fasciotomies were performed in the first dorsal interosseous and thenar compartments with concomitant release of the carpal tunnel and ulnar nerve at the wrist. The patient exhibited a full recovery from symptoms with no residual functional deficits. Although rare, patients that perform repetitive hand motions can develop chronic exertional compartment syndrome. To our knowledge, this is the first reported case of chronic exertional compartment syndrome in the hand that occurred with chronic overuse neuropathies and an acute ulnar neuropathy with intrinsic hand muscle weakness at the same time. It is important for providers to conduct a thorough history and physical examination to differentiate multiple hand pathologies that may present simultaneously.

G protein-biased GPR3 signaling ameliorates amyloid pathology in a preclinical Alzheimer's disease mouse model.

Biased G protein-coupled receptor (GPCR) ligands, which preferentially activate G protein or ß-arrestin signaling pathways, are leading to the development of drugs with superior efficacy and reduced side effects in heart disease, pain management, and neuropsychiatric disorders. Although GPCRs are implicated in the pathophysiology of Alzheimer's disease (AD), biased GPCR signaling is a largely unexplored area of investigation in AD. Our previous work demonstrated that GPR3-mediated ß-arrestin signaling modulates amyloid-ß (Aß) generation in vitro and that Gpr3 deficiency ameliorates Aß pathology in vivo. However, Gpr3-deficient mice display several adverse phenotypes, including elevated anxiety-like behavior, reduced fertility, and memory impairment, which are potentially associated with impaired G protein signaling. Here, we generated a G protein-biased GPR3 mouse model to investigate the physiological and pathophysiological consequences of selective elimination of GPR3-mediated ß-arrestin signaling in vivo. In contrast to Gpr3-deficient mice, G protein-biased GPR3 mice do not display elevated anxiety levels, reduced fertility, or cognitive impairment. We further determined that G protein-biased signaling reduces soluble Aß levels and leads to a decrease in the area and compaction of amyloid plaques in the preclinical AppNL-G-F AD mouse model. The changes in amyloid pathology are accompanied by robust microglial and astrocytic hypertrophy, which suggest a protective glial response that may limit amyloid plaque development in G protein-biased GPR3 AD mice. Collectively, these studies indicate that GPR3-mediated G protein and ß-arrestin signaling produce discrete and separable effects and provide proof of concept for the development of safer GPCR-targeting therapeutics with more directed pharmacological action for AD.

GPCR kinases generate an APH1A phosphorylation barcode to regulate amyloid-ß generation.

Emerging evidence suggests that G protein-coupled receptor (GPCR) kinases (GRKs) are associated with the pathophysiology of Alzheimer's disease (AD). However, GRKs have not been directly implicated in regulation of the amyloid-ß (Aß) pathogenic cascade in AD. Here, we determine that GRKs phosphorylate a non-canonical substrate, anterior pharynx-defective 1A (APH1A), an integral component of the γ-secretase complex. Significantly, we show that GRKs generate distinct phosphorylation barcodes in intracellular loop 2 (ICL2) and the C terminus of APH1A, which differentially regulate recruitment of the scaffolding protein ß-arrestin 2 (ßarr2) to APH1A and γ-secretase-mediated Aß generation. Further molecular dynamics simulation studies reveal an interaction between the ßarr2 finger loop domain and ICL2 and ICL3 of APH1A, similar to a GPCR-ß-arrestin complex, which regulates γ-secretase activity. Collectively, these studies provide insight into the molecular and structural determinants of the APH1A-ßarr2 interaction that critically regulate Aß generation.

Achenbach Syndrome: Case Report and Discussion.

Achenbach syndrome is a rare, benign, self-limiting condition characterized by spontaneous, recurrent bruising of the digits without evidence of systemic disease or predisposing factors. We report a middle-aged Caucasian female that presented to the outpatient clinic with spontaneous bruising on the dorsal aspect of her left first metacarpal. Diagnosis of Achenbach syndrome was made through history and physical examination findings, and the patient was discharged with instructions to follow up as needed. It is important for providers to consider Achenbach syndrome to reassure patients and prevent an expensive or invasive workup.

Post-void bladder ultrasound in suspected cauda equina syndrome-data from medicolegal cases and relevance to magnetic resonance imaging scanning.

OBJECTIVE: Post-void residual (PVR) scans of less than 200 ml are increasingly being used to rule out the likelihood of cauda equina syndrome (CES) and to delay emergency MRI scanning in suspected cases. This study was done to review a series of 50 MRI confirmed cases of CES and to test the hypothesis that a PVR of less than 200 ml was unlikely to be present. METHODS: Fifty consecutive medicolegal cases involving CES were audited. Records were reviewed to see if PVR scans were done. MRI scans were reviewed, clinical and radiological diagnosis reviewed, and treatment recorded. RESULTS: Out of 50 CES cases, 26 had had PVR scans. In 14/26 (54%) the PVR scan was ≤ 200 ml. In one case, the CES diagnosis was in question leaving 13/26 (50%) cases where there was a clear clinical and MRI diagnosis of CES despite the PVR being ≤ 200 ml. All 13 were classified as incomplete cauda equina syndrome (CESI) and all proceeded to emergency decompression. CONCLUSIONS: This study is the first in the literature to demonstrate that there is a significant group of CES patients who require emergency decompression but have PVRs ≤ 200 ml. The results demonstrate the existence of a significant group of CESI patients whose bladder function may be deteriorating, but they have not yet reached the point where the PVR is over 200 ml. Given the accepted understanding that CESI is best treated with emergency decompression, such patients are likely to have worse outcomes if MRI scanning and therefore surgery is delayed. We recommend the following: PVR is recommended as an assessment tool in suspected CES. A PVR of ≤ 200 reduces the likelihood of having CES but does not exclude it; clinical suspicion of CES should always lead to an MRI scan. Further investigation of PVR as a prognostic tool is recommended.

Cauda equina syndrome-a practical guide to definition and classification.

PURPOSE: International uniformity of definition and classification are crucial for diagnosis and management of cauda equina syndrome (CES). They are also useful for clinicians when discussing CES with patients and relatives, and for medicolegal purposes. METHODS: We reviewed published literature using PubMed on definition and classification of cauda equina syndrome since 2000 (21 years). Using the search terms 'cauda equina' and 'definition' or 'classification', we found and reviewed 212 papers. RESULTS: There were 17 different definitions of CES used in the literature. There were three well-defined methods of classification of CES. The two-stage system of incomplete CES (CESI) versus CES with retention (CESR) is the most commonly used classification, and has prognostic value although the details of this continue to be debated. CONCLUSION: We used the existing literature to propose a clear definition of CES. We also drew on peer-reviewed published literature that has helped to amplify and expand the CESI/CESR dichotomy, adding categories that are both less severe than CESI, and more severe than CESR, and we propose clear definitions in a table form to assist current and future discussion and management of CES.

Targeting neurological abnormalities in lysosomal storage diseases.

Central nervous system (CNS) abnormalities and corresponding neurological and psychiatric symptoms are frequently observed in lysosomal storage disorders (LSDs). The genetic background of individual LSDs is indeed unique to each illness. However, resulting defective lysosomal function within the CNS can transition normal cellular processes (i.e., autophagy) into aberrant mechanisms, facilitating overlapping downstream consequences including neurocircuitry dysfunction, neurodegeneration as well as sensory, motor, cognitive, and psychological symptoms. Here, the neurological and biobehavioral phenotypes of major classes of LSDs are discussed alongside therapeutic strategies in development that aim to tackle neuropathology among other disease elements. Finally, focused ultrasound blood-brain barrier opening is proposed to enhance therapeutic delivery thereby overcoming the key hurdle of central distribution of disease modifying therapies in LSDs.

Failed consent in spinal surgery again. Minimum standards for consent must be adopted by all surgeons.

AIM: To report another case of failed consent in spinal surgery leading to an award in damages of £4.4 million and to suggest an improved method of recording discussions in respect of consent. METHODS: A recent Court Judgment, previous Judgments and the relevant medical law were reviewed. RESULTS: A standardised proforma recording the necessary preoperative discussions that must be had with our patients is described. CONCLUSIONS: Spinal surgeons must adhere to new standards in respect of the consenting process and, crucially, in recording the dialogue that has occurred between the patient and the surgeon.

First Metatarsophalangeal Joint Space Area Decreases Within 1 Month After Implantation of a Polyvinyl Alcohol Hydrogel Implant: A Retrospective Radiographic Case Series.

In 2016, the U.S. Food and Drug Administration approved the first and only polyvinyl alcohol hydrogel implant for the treatment of hallux rigidus. The implant functions as a bumper to maintain first metatarsophalangeal joint space to prevent contact of the phalangeal base with the first metatarsal head. Short-term and intermediate outcomes with this implant have reported positive outcomes with no radiographic outcomes of implant wear or subsidence. We performed a retrospective radiographic review of 27 consecutive patients who received the implant and measured preoperative and postoperative joint space area (JSA). We found a significant improvement in JSA (p < .001) between the preoperative JSA and JSA at the first postoperative visit at 1 to 2 weeks. We also found a significant decrease in JSA (p < .001) between the first postoperative visit and the second postoperative visit at 5 to 12 weeks. This information could have further implications for implant design as well as how we can better achieve functional improvements in the first metatarsophalangeal joint in patients with hallux rigidus.

Gentamicin vestibulotoxicity with modern systemic dosing regimens: a prospective study using video-oculography.

Objectives: To determine the incidence of gentamicin vestibulotoxicity with current dosing regimens, and to evaluate the feasibility of routine video-oculography on all patients given gentamicin. Materials and methods: In this prospective incidence study serial horizontal vestibulo-ocular reflex (HVOR) gain measurements were recorded using video-oculography on adult inpatients receiving intravenous gentamicin. The primary outcome was the proportion of patients developing impairment of their HVOR gain. Results: After exclusions, 42 patients were included in the analysis. Three patients (7.1%) developed asymptomatic vestibulotoxicity, exact 95% confidence interval 1.5-19.5%. In two of these patients the deficit resolved within several hours. No patients developed symptomatic vestibulotoxicity. There was no evidence for a generalised reduction in group HVOR gain with time. HVOR gain was not associated with total gentamicin dose, dynamic visual acuity or subjective imbalance. Conclusions and significance: Gentamicin may cause reversible, asymptomatic vestibulotoxicity. Video-oculography may be useful to monitor for vestibulotoxicity in patients treated with gentamcin; however, testing all patients routinely may be challenging.

Surgical Treatment of Lisfranc Injury With Plantar Plate Approach.

Midfoot injuries are the second most common athletic foot injury documented in the published data. High-energy Lisfranc dislocations are commonly seen secondary to traumatic etiologies and disrupt the strong midfoot ligaments supporting the arch. These injuries require immediate surgical intervention to prevent serious complications such as compartment syndrome and amputation. The present case series reports a new Lapidus plate system used in 3 patients who underwent arthrodesis procedures for Lisfranc joint dislocation. Three patients in their fourth to fifth decade of life presented with a traumatic injury at the Lisfranc joint and subsequently underwent open reduction and internal fixation using the plantar Lapidus Plate System (LPS; Arthrex, Naples, FL). The LPS was placed in a predetermined safe zone, with measures taken to avoid the insertional points of the tibialis anterior and peroneus longus tendons. Radiographs were obtained for ≤6 months postoperatively and revealed consolidation across the fusion site, intact hardware, and satisfactory alignment. On examination, the corrections were well maintained and free of signs of infection. Clinical evaluation showed no indication of motion within the tarsometatarsal joint and no tenderness to palpation surrounding the fusion sites. All 3 patients successfully returned to their activities of daily living without discomfort or pain. Modern surgical treatment of Lisfranc injuries most commonly includes open reduction and internal fixation, accompanied by arthrodesis. The present case series has demonstrated that the LPS provides relief, stability, and compression of the joint in our small cohort of patients who experienced a traumatic injury to the Lisfranc joint.

Quantifying the clinical aspects of the cauda equina syndrome - The Cauda Scale (TCS).

AIM: To quantify the clinical findings in patients with potential cauda equina syndrome (CES). METHODS: Three domains were selected: bladder function (B), perianal sensation (S) and anal tone/squeeze (T). A quantified score was given to symptoms and signs in each domain. RESULTS: The lowest score in each domain and the lowest sum score (the most severe lesion) is 0. The best sum score is 9 (the normal patient). CONCLUSION: TCS can improve the clinical assessment and management of patients with possible CES and improve communication between the doctors who are called upon to assess and treat such patients.