A Systematic Review of the Spectrum and Prevalence of Non-motor Symptoms in Multiple System Atrophy.

BACKGROUND: Patients with Multiple System Atrophy (MSA) frequently report non-motor symptoms, and several research groups have highlighted this. OBJECTIVE: We systematically searched for and reviewed papers assessing prevalence of non-motor symptoms (NMS) in MSA patients as reported in the scientific literature. METHODS: We performed a systematic review of studies of subjects with MSA (involving > 10 patients) who were assessed for NMS, published in the English literature in PUBMED and EMBASE databases from 1947-2022. RESULTS: 23 research papers, with data from 2648 clinically diagnosed and 171 pathologically verified cases of MSA were included, along with 238 controls. Mean age for MSA cases was 61.3 (9.2) years, mean disease duration 3.6 (2.7) years. 57.9% were male. Our analysis showed that the prevalence of cognitive issues in MSA varied widely (between 15-100%); dementia per se was uncommon, but assessment in advanced stages of MSA is impacted by unintelligible speech (which may be noted in a quarter of cases). The prevalence of depressive symptoms in MSA was between 44-88%. Sleep disturbances were reported by 17-89%, with REM-sleep behaviour disorder (RBD) rates as high as 75%. Pain was reported by 40-47% of patients: rheumatic or musculoskeletal sources of pain being commonest. Fatigue was reported by 29-60% of patients. Symptoms of autonomic failure in MSA were seen in 34-96.5% patients at baseline. CONCLUSION: In routine clinical practice, NMS in MSA are under-recognised by clinicians. These impact hugely on patient quality of life and contribute to their overall morbidity. A methodical ascertainment of these complaints will address an unmet need, and lead to a more holistic approach of care for individuals with MSA.

An update on the role of magnetic resonance imaging in predicting and monitoring multiple sclerosis progression.

INTRODUCTION: While magnetic resonance imaging (MRI) is established in diagnosing and monitoring disease activity in multiple sclerosis (MS), its utility in predicting and monitoring disease progression is less clear. AREAS COVERED: The authors consider changing concepts in the phenotypic classification of MS, including progression independent of relapses; pathological processes underpinning progression; advances in MRI measures to assess them; how well MRI features explain and predict clinical outcomes, including models that assess disease effects on neural networks, and the potential role for machine learning. EXPERT OPINION: Relapsing-remitting and progressive MS have evolved from being viewed as mutually exclusive to having considerable overlap. Progression is likely the consequence of several pathological elements, each important in building more holistic prognostic models beyond conventional phenotypes. MRI is well placed to assess pathogenic processes underpinning progression, but we need to bridge the gap between MRI measures and clinical outcomes. Mapping pathological effects on specific neural networks may help and machine learning methods may be able to optimize predictive markers while identifying new, or previously overlooked, clinically relevant features. The ever-increasing ability to measure features on MRI raises the dilemma of what to measure and when, and the challenge of translating research methods into clinically useable tools.

Alternating hemiplegia of childhood.

Alternating hemiplegia of childhood (AHC) is characterized by recurrent episodes of hemiplegia which may alternate sides between attacks. The condition is associated with severe neurodevelopmental disorder presenting in early infancy, and may encompass a wide range of other paroxysmal manifestations (e.g., dystonia, nystagmus, dysautonomia) and pervasive neurological disabilities (e.g., developmental delay, learning disabilities, choreoathetosis, and ataxia). Epileptic seizures are particularly common among patients with AHC. Diagnosis is usually based on history and clinical grounds using the Aicardi criteria. Mutations in the ATP1A3 gene are implicated in the disease pathology of the condition, as well as several other neurodevelopmental disorders, suggesting AHC forms part of a spectrum of overlapping clinical syndromes rather than a distinct clinical entity per se. Management of patients with AHC includes the rapid induction of sleep during paroxysmal attacks and the avoidance of identified triggers. Pharmacotherapeutic treatments have a role in managing epileptic seizures, as well as in the prevention of paroxysmal attacks wherein flunarizine remains the treatment of choice.

Neurological update: non-motor symptoms in atypical parkinsonian syndromes.

Among people with Parkinson's disease (PD), non-motor symptoms (NMS) are a well-recognised cause of significant morbidity and poor quality of life. Yet, it is only more recently that NMS have been recognised to affect the lives of patients with atypical parkinsonian syndromes in a similar fashion. The aim of this article is to highlight and compare the relative prevalence of NMS among patients with atypical parkinsonian syndromes in the published literature, which largely remain underreported and unaddressed in routine clinical practice. All NMS that are recognised to occur in PD are also found to commonly occur in atypical parkinsonian syndromes. In particular, excessive daytime sleepiness is more prevalent among atypical parkinsonian syndromes (94.3%) compared to PD (33.9%) or normal controls (10.5%) (p < 0.001). Urinary dysfunction (not limited to urinary incontinence) is not only found to occur in MSA (79.7%) and PD (79.9%), but has also been reported in nearly half of the patients with PSP (49.3%), DLB (42%) and CBD (53.8%) (p < 0.001). Apathy is significantly more common among the atypical parkinsonian syndromes [PSP (56%), MSA (48%), DLB (44%), CBD (43%)] compared to PD (35%) (p = 0.029). Early recognition and addressing of NMS among atypical parkinsonian syndromes may help improve the holistic patient care provided and may encompass a range of conservative and pharmacotherapeutic treatments to address these symptoms.

Acute appendiceal abscess and atraumatic splenic rupture: A case of dual pathology.

INTRODUCTION: Atraumatic splenic rupture is a rare surgical emergency that is often attributed to neoplastic or infectious causes. Rarely, it has been identified to also occur in the setting of an acute severe sepsis and in cases of pelvic or splenic abscess formation post-appendicectomy. However, to our knowledge, the co-presentation of acute appendiceal abscess and splenic rupture has not been previously described. PRESENTATION OF CASE: We present the case of a 67-year old male with decompensating haemorrhagic shock secondary to atraumatic splenic rupture on a background of an inadequately treated complicated appendicitis originally managed as diverticulitis with antibiotics in the community. Intra-operatively, in addition to a de-gloved, ruptured spleen; an acutely inflamed appendiceal abscess was also identified. A concomitant splenectomy, washout and appendicectomy and was therefore performed. Histopathological examination revealed a normal spleen with a stripped capsular layer. Mucosal ulceration, transmural inflammation and serositis of the appendix appeared to be consistent with acute appendicitis. DISCUSSION: Our case demonstrates how inadequately treated sepsis may predispose to an acute presentation of splenic rupture with associated haemorrhagic shock; which may initially be interpreted as septic shock. However, we demonstrate how insults such as sepsis and haemorrhagic shock may co-exist warranting careful consideration of possible dual pathologies in complex presentations which may be life-threatening. CONCLUSION: While the causal relationship between acute appendicitis and atraumatic spontaneous splenic rupture remains unclear, our case considers and highlights the importance of considering dual pathology in patients presenting in the acute setting.

The prevalence of comorbidities among people living with HIV in Brent: a diverse London Borough.

Background HIV has changed from a rapidly deteriorating illness to a complex chronic disease, with increasing incidences of comorbidity, including cancer, and liver, lung and cardiovascular diseases. North West London has 6719 individuals living with the human immunodeficiency virus (HIV), 873 of whom reside in the London Borough of Brent. Traditionally, commissioning services have focused on HIV therapy alone without considering how comorbidity affects treatment outcome and total service costs. Setting The setting for the study was NHS Brent Primary Care Trust, London UK. Question What associated comorbidities are present in people in Brent (London, UK) living with HIV, and how common are they? Methods A point-prevalence audit of retrospective data was conducted on all HIV-positive patients in Brent (financial year 2011/12). Data were collected from genito-urinary medicine (GUM) services, community services and general practitioners (GPs) on HIV diagnosis, patient demographics and past/current comorbidities: hepatitis B and C, cardiovascular disease, diabetes and mental health disorders. Results This study identified that 29% of people living with HIV/AIDS (PLWHA) in Brent have at least one comorbidity. The most common was hepatitis, followed by mental health disorders and cardiovascular disease (CVD). Comorbidity was more likely in older male patients (in particular CVD and diabetes) and White patients (except for diabetes which was more common in Asian groups). Discussion/Conclusion Many PLWHA in Brent suffer from a number of other conditions, which appear largely independent of HIV. Findings confirm the need to treat HIV as a long-term condition, including patient education, empowerment and encouraging self-management. The multi-morbidity of many PLWHA suggests a role for both primary care and collaborative, holistic, patient-centred and individualised healthcare. Service providers and commissioners need to consider comorbidities in their treatment of and provision of services for PLWHA. This study also highlighted the need for services to address limitations of their data collection systems.