bluuebunny/crossref_metadata_2025 huggingface dataset:
Ghosts From the Past: A Juvenile Onset Huntington's Disease Case From Bahrain
Authors: Husain Hanan , Bucheeri Shaima , Alsaif Feras
Published: August 2024

Aims

Huntington’s disease (HD) is a rare inherited disease in an autosomal dominant pattern, that is most prevalent among Caucasians.

Juvenile onset Huntington disease (JHD) is a rare subtype of the disease, defined by presence of the disease by the age of 20 or younger.

We report a case of a 28-year-old woman with JHD and discuss the challenges we faced in her diagnosis and management.

Methods

A now 28-year-old Arab woman, presented to the psychiatric hospital when she was an 18-year-old, complaining of restlessness and low mood. She was diagnosed to be having social phobia and panic attacks, and was given escitalopram. About 6 months after her first presentation, the patient's mother showed up reporting that the patient is doing well without the medication and that she is not going to take them anymore. However, the patient started developing anxiety symptoms two years later and started taking the same medication. Moreover, three years after her first presentation, the patient started developing movement symptoms and mentioned that her father passed away by Huntington's disease. The patient was immediately referred to a genetic lab and a Huntington disease diagnosis was given along with tetrabenazine and risperidone. Moreover, the patient attempted suicide multiple times after worsening of symptoms over the years. A brain magnetic resonance imaging of the patient showed bilateral caudate nuclei atrophy with similar changes affecting the putamen as well but to a lesser extent, changes that are associated with Huntington's disease.

Results

Juvenile onset Huntington disease is rare, especially among people who are not of European ancestry. Therefore, clinicians are not likely to suspect the illness at an early stage. Late diagnosis not only can prevent patients from receiving the symptomatic treatments that they need, but it can also lead to misdiagnosis. Early referral to genetic testing is required among patients presenting with symptoms and a positive family history. However, risk of suicide is high among patients of Huntington's disease.

Conclusion

Juvenile onset Huntington disease is extremely rare. Initial symptoms of the disease could vary and can be misdiagnosed as epilepsy, mood or behavioral disorders, or schizophrenia. Genetic testing is controversial for patients below 18 years old. Having a low suspicion threshold in diagnosing patients with positive family history of HD who are presenting with such symptoms is recommended. There is no cure and treatment is symptomatic.
Social Isolation and Anomalous Proprioceptive Experiences in Schizophrenia: A Case Study
Authors: Kwarkas Vullong , Jaganathan Geetha , Cross Benjamin
Published: August 2024

Aims

Integral to Bleuler's concept of schizophrenia, anomalous beliefs regarding the self are crucial to maladaptive social functioning. In schizophrenia, a predisposition to unusual bodily experiences, coupled with reduced awareness and increased social isolation, leads to hallucinations and delusions. Proprioceptive hallucinations, a subset of bodily hallucinations, present a challenging diagnosis due to their subjective nature, often resembling genuine bodily perceptions. We present the case of a 42-year-old man with untreated psychotic illness, manifesting perceptual abnormalities in the modality of proprioception.

Methods

Mr. X was referred to Early Intervention in Psychosis (EIP), believing that all his joints were dislocated despite a normal neurological examination, Magnetic Resonance Imaging (MRI), and blood tests. Pertinently, childhood adversities and a seven-year history of prodromal and schizophrenia symptoms, chronic marijuana usage, potentially triggered by separating from his ex-partner, were present. At assessment, Mr. X recalled a delusional memory from age 5, seemingly heralding the onset of his illness. He displayed thought disorder, poor sleep and lacked insight. Olanzapine titrated to 15mg omni nocte (ON) improved sleep, but insight remained poor.

Results

This case of rare proprioceptive hallucinations presenting in middle-age underscores the impact of positive schizophrenia symptoms on social impairment, suggesting a link between unusual bodily experiences and social isolation. Proprioception, encompassing joint perceptions, muscle force, and effort, contributes to body image by combining with exteroception. Interactions with others, influenced by our bodily sense, are crucial for adaptive social functioning. The social deafferentation hypothesis posits that loneliness in schizophrenia may heighten susceptibility to bodily aberrations. The psychological formulation and the chronic use of marijuana on Mr. X's psychopathology, although not thoroughly explored, cannot be overstated.

Conclusion

Proprioception, vital for body image and social interactions, contributes to maladaptive functioning. The potent link between positive schizophrenia symptoms and social impairment needs exploring.
A Challenging Case of Generalised Anxiety Disorder and Recurrent Depressive Disorder, Unspecified
Authors: Moss Eileen
Published: August 2024

Aims

This case presentation is on a 54 year old female patient. Prior to 2023, she had never had an inpatient admission for her mental health. She was referred to her local community mental health team in May 2023 as they were concerned that she was suffering from panic disorder. The GP referral stated that this lady was suffering from anxiety and panic attacks. At the time of the GP referral, she was on maximum doses of escitalopram, propranolol and zolpidem (and she had been on these maximum doses for three years prior to the referral). This lady has significant caring responsibilities (she has a brother who is severely disabled and she lives with him and she is his main carer). She sustained an injury to the tip of her left index finger in April 2023 and this injury seemed to cause an acute deterioration in her mental health.

Methods

This lady had her first inpatient admission in June 2023 and at that time she was treated for the following: mixed anxiety and depressive disorder. She was discharged to the care of her Community Mental Health Team at that time. Post-discharge, her mental state started to deteriorate and she waded into a river and she also made a serious hanging attempt. After this hanging attempt, she sustained multiple rib fractures, a pleural effusion and atelectasis. She also ended up in ICU following this suicide attempt. She was re-admitted to Holywell Hospital in November 2023.

Results

During her second inpatient admission, it became clear that this lady is very medication-seeking. She was treated for the following mental health conditions on her second inpatient admission in 2023: Generalised Anxiety Disorder and Recurrent Depressive Disorder, Unspecified. Help was also sought from an Addictions Specialist on the second inpatient admission. This lady was given five ECT sessions on her second inpatient admission but it was felt that this was making her more agitated so it was stopped.

Conclusion

This patient is currently still an inpatient and she is hoping to attend a specialist addictions unit when she is discharged from hospital. I will follow her progress with interest. I found this case to be an interesting one as it forced me to consider how to best manage a patient who is very medication-seeking.
Remission of Symptoms of Functional Neurological Disorder (FND) Utilising Novel Interventions: A Case Report
Authors: Rudrappa Roopa , Altman Roni , Rathnaiah Mohanbabu
Published: August 2024

Aims

FND can be considered as an umbrella term that includes range of motor and sensory system dysfunctions with genuine symptoms including paralysis, tremors, sensory disturbance, speech disturbance and seizure. Functional seizures usually termed as Non-Epileptic attack disorder (NEAD) can result in profound persisting disability. Brief bouts of unprovoked and uncontrollable laughter, spontaneous in origin, combined with facial contraction in the form of smile, is termed as ‘gelastic seizures’. Modafinil is a dopamine modulating molecule for which evidence is accumulating towards its cognitive enhancement role in multiple domains. Furthermore, it has been shown to promote hippocampal neurogenesis and synaptic plasticity in pre-clinical studies. We report a case of FND in which pharmacological (Modafinil) and non-pharmacological interventions (Brain retraining) resulted in resolution of symptoms of probable gelastic episodes.

Methods

A 50-year-old lady who was referred by consultant neurologist to our Neuropsychiatry pilot service with episodes of uncontrollable laughing, singing, screaming and suffering from staggering and imbalance. Following these episodes, patient described sleeping for hours to days with fatigue. Her husband first noticed low mood 12 years ago during post-natal period. Treatment with fluoxetine reportedly contributed to ‘cyclical highs and mood variations’. One year later, her ‘gelastic episodes’ started and continued to occur every 2 or 3 months and they were brought on by a range of factors including tiredness, menstrual periods and stress. Patient also reported atypical cognitive deficits such as ‘losing vocabulary’ and ‘stuck every couple of seconds’. Furthermore, detailed history confirmed possible traits of attention deficit and hyperactive thinking since her childhood.

Results

Following a comprehensive assessment, the role of the brain in the manifestation of her symptoms was discussed and agreed upon. Strategies based on Cognitive Behaviour Therapy principles such as active distraction, brain retraining, engaging in therapeutic activities and expressive writing were discussed and agreed upon. Following detailed risk-benefit analysis, modafinil was initiated at 200 mg dose in the morning. Patient made a remarkable recovery nearly back to her baseline with resolution of her gelastic episodes and thus improvement in her mental state. She continues to be stable in the community.

Conclusion

This case highlights the importance of recognising and treating cluster of symptoms which might belong to the impulsive-compulsive spectrum. This further emphasises the role of dopamine-modulating agents such as modafinil along with brain-retraining strategies.
Obsessive-Compulsive Disorder and Suicidality: A Case Control Study
Authors: Yadav Swapnil , Reddi V Senthil Kumar , Sekharan Jaisoorya
Published: August 2024

Aims

This study aims to explore the characteristics of the individuals who engage in suicidal behaviour.

Hypothesis:

1)

Patients attempting suicide are more likely to have co-existing axis I or axis II disorder when compared with patients with no reported suicidal attempt.

2)

Various OCD related domain like symptom types, symptom severity, age of onset of OCD, duration of illness and presence of other OCD spectrum disorder has higher chances of attempting suicide.

3)

Family history of suicidal behaviour increases the risk of suicidality.

Methods

Retrospective file review of all patients registered at the OCD clinic, NIMHANS hospital, Bangalore, India between Jan 2008–Dec 2018 was undertaken. Out of 1017, 814 met the eligibility criteria. Individuals with a documented suicide attempt were compared with those without. Chi square test, unpaired t-test and Regression analysis was done to identify predictors of life-time attempt.

Results

Lifetime attempt was noted in 19.8% patients (161 out of 814). On comparison, female gender, unemployment, lower socioeconomic status, severe to extreme avoidance, severe to most severe CGIs, presence of depressive disorder, history of engagement in suicidal acts, past NSSI, past suicidal ideation, younger age at onset of OCD, younger age at first OCD consultation and YBOCS at index assessment are significantly associated with higher risk of suicidal attempts. Female gender, BPL status, age at onset of OCD and presence of depressive disorder can significantly predict lifetime suicidal attempts. Out of 814 eligible patients reviewed, 32 patients i.e. 4.79% had made ≥1 suicide attempt after their first contact to the OCD clinic. Risk of re-attempting suicide is highest in the first three years post index visit to the OCD clinic.

Conclusion

One in five individuals with OCD attempt suicide with higher risk in female population, greater illness severity (higher baseline YBOCS scores and early age of OCD onset) and presence of comorbid depression. Importantly, risk of repeated attempt is greatest within three years of contact but no factor could determine reattempt risk. Hence, regular screening for suicidality in patients with OCD could be of utmost importance in preventing any future attempts. The findings also highlight the need for future studies that explore the neurobiological underpinnings of suicide vulnerability in OCD.
An Item-Level Systematic Review of the Presentation of Attention Deficit Hyperactivity Disorder (ADHD) in Females
Authors: Hui Lim Annabelle Xiao , Williams Tamara , Horstmann Louise , Thapar Anita , Martin Joanna
Published: August 2024

Aims

Sex differences in the prevalence of ADHD are well reported in the literature, with childhood ADHD being diagnosed 7–8 times more frequently in males than females, despite a population sex ratio of 3–4:1. A recent consensus statement argued that ADHD is under-identified and under-diagnosed in the UK, and this is especially concerning with regards to females. This systematic review aims to investigate specific symptoms characterising the manifestation of ADHD in females compared with both males with ADHD and females without ADHD.

Methods

A systematic search of eligible studies was conducted using predefined search criteria across six databases (Ovid MEDLINE, Ovid EMBASE, Ovid APA PsycINFO, ProQuest, EBSCO ERIC and EBSCO British Education Index), in line with a registration protocol on PROSPERO. Eligible studies included those with statistical analysis comparing ADHD, impact or co-occurring mental health difficulties at the item level, which compared ADHD symptoms in both sexes, or contrasted females with and without ADHD. Studies that exclusively reported total scores without item-level statistical results were excluded. A total of 5,378 articles were identified in the search and 13 studies met the criteria for inclusion.

Results

Outcomes from 13 studies were analysed thematically. 7 studies looked at ADHD at an item level, while 7 studies explored disparities in impairment or other items. Of the eligible studies, 12 compared males and females with ADHD and 4 compared females with and without ADHD. 7 studies focussed on children with ADHD and 6 on adults. Preliminary results from 3 studies of ADHD symptoms in children indicated sex differences in hyperactive and impulsive symptoms: males were more likely to exhibit symptoms such as fidgeting and difficulty remain seated, while females exhibited higher rates of excessive talking and interrupting. Sex differences in impairment showed mixed results. Females with ADHD endorsed self-reported items related to mind-wandering and parent-reported impairment, including friendship difficulties, more than females without ADHD. Overall, the analysis of the results suggested that most studies do show some sex differences in ADHD and impairment items.

Conclusion

While current studies of individuals diagnosed with ADHD highlight important sex differences, the limited number of direct investigations and predominant focus on total symptoms underscore the need for further research. Item-level analysis of symptoms and their impact is essential in exploring how sex influences the associations between ADHD, risk factors and functional outcomes. Recognising potential sex differences is essential for improving ADHD assessment in females and later life outcomes.
The Association Between Severe Mental Illness and Receipt of Acute Cardiac Care for Myocardial Infarction, and the Impact of the COVID-19 Pandemic
Authors: Fleetwood Kelly , Mercer Stewart , Padmanabhan Sandosh , Smith Daniel , Jackson Caroline
Published: August 2024

Aims

To compare receipt of acute cardiac care in people with versus without severe mental illness (SMI) and investigate the impact of the COVID-19 pandemic on any differences in care. We hypothesised that, compared with those without SMI, patients with an SMI are less likely to receive guideline recommended acute cardiac care and that disparities worsened as a result of the pandemic.

Methods

We conducted a cohort study using data from the CVD-COVID-UK resource, which links electronic health data from multiple sources. Our cohort included 95,125 adults with a non-ST-elevation MI (NSTEMI) recorded in the Myocardial Infarction National Audit Programme (MINAP) dataset between 1 November 2019 and 31 March 2022. We defined SMI as schizophrenia, schizoaffective disorders or bipolar disorder (BD), ascertained through recorded diagnosis in primary care or hospital admission records. We examined receipt of cardiac care standards for NSTEMI, including: admission to a cardiac ward; angiogram eligibility; receipt of angiogram (in those eligible); angiogram within 72 hours; secondary prevention medication prescribing at discharge, and arrangement of post-discharge cardiac rehabilitation. We used logistic regression to obtain odds ratios (ORs) for the association between SMI and receipt of each care indicator, adjusting for age, sex and time period. We tested for an interaction between SMI and time period in order to determine if any disparities had changed since the start of the COVID-19 pandemic.

Results

Within our cohort, 620 patients (0.6%) had schizophrenia and 575 (0.6%) had BD. Compared with people without SMI and after adjusting for age, sex and period, patients with an SMI were less likely to receive each of the cardiac care standards. For example, compared with those without SMI, those with SMI were less likely to: be admitted to a cardiac ward (schizophrenia: OR 0.72, 95% CI 0.61–0.85; BD: 0.74, 95% CI 0.63–0.88); be eligible for an angiogram (schizophrenia: 0.37, 95% CI 0.29–0.47; BD: 0.52, 95% CI 0.40–0.68); receive an angiogram (schizophrenia: 0.22, 95% CI 0.18–0.28; BD: 0.51, 95% CI 0.39–0.66); and receive an angiogram within 72 hours (schizophrenia: 0.71, 95% CI 0.56–0.90); BD: 0.80, 95% CI 0.64–1.00). We generally found no evidence that disparities had changed since the start of the COVID-19 pandemic.

Conclusion

We identified marked SMI disparities in receipt of acute cardiac care among people treated in hospital for a NSTEMI. Further research should seek to identify reasons for, and inform interventions to, address these disparities.
Effect of Cognitive Stimulation Therapy on Cognition and Social Independence in People With Dementia at the North Norfolk Memory Service
Authors: Olaluwoye Oluwaseun , Ridel Gemma , Jones Bethan , Ighomereho Abosede
Published: August 2024

Aims

Cognitive stimulation therapy (CST) is a psychosocial treatment for people with dementia. It is an evidence-based treatment which shows improvement in cognition, well-being and quality of life of people living with dementia. CST is recognised as one of the interventions which is cost-effective.

The National Institute of Health and Care Excellence (NICE) guideline recommends that people with mild to moderate dementia should be given opportunities to take part in CST. The CST sessions done in North Norfolk are weekly sessions which span 90 minutes. A group of between 8–10 people attend a 14-week CST treatment course.

The aim of this study is to evaluate the effectiveness of the CST on cognition and social independence of patients with dementia in North Norfolk.

Methods

Patients diagnosed with mild to moderate dementia at the memory service were referred for CST sessions. A trained professional assessed the patients to determine their eligibility for CST. The assessment included: assessing motivation to join a group therapy, administration of the short-version of the Addenbrooke Cognitive Examination questionnaire (MINI-ACE) to assess cognitive functions and the administration of Engagement and Independence in Dementia Questionnaire (EIDQ) which measures the social independence of the patients. A higher score on both questionnaires indicates better cognitive function and social independence, respectively.

The CST sessions spanned from February 2023 to May 2023. The patients were re-assessed after the 14-week sessions of CST for their MINI-ACE and EIDQ scores. A qualitative questionnaire was administered for feedback about the sessions.

Data were obtained from patients' clinical record following approval from the research and service evaluation team of the Trust.

Results

Nine patients completed the 14-week CST sessions. The mean age of the patients was 82.9 ± 4.8. 66.7% were male and 33.3% were female. 77.8% were on memory medication and 22.2% were not on memory medication. 44.4%, 33.3%, 11.1% and 11.1% were diagnosed with dementia in Alzheimer's Disease; Mixed Alzheimer's-Vascular Dementia, Lewy Body Dementia and Frontotemporal Dementia, respectively.

The same proportion of patients (44.5%) had both increased and decreased MINI-ACE score after CST while 11% had no changes in MINI-ACE score. Majority (66.7%) had increased EIDQ score after CST, 22.2% had decreased EIDQ score and 11.1% had no changes.

Conclusion

The CST sessions done in North Norfolk showed more positive effect on social independence than cognition in people with dementia.
Randomized Controlled Trial of a Nurse-Led Brief Behavioral Intervention for Dyspnea in Patients With Advanced Lung Cancer
Authors: Greer Joseph A. , Post Kathryn E. , Chabria Reena , Aribindi Seetha , Brennan Natalie , Eche-Ugwu Ijeoma Julie , Halpenny Barbara , Fox Erica , Lo Stephen , Waldman Lauren P. , Pintro Kedie , Rabideau Dustin J. , Pirl William F. , Cooley Mary E. , Temel Jennifer S.
Published: August 2024

PURPOSE

In patients with lung cancer, dyspnea is one of the most prevalent and disabling symptoms, for which effective treatments are lacking. We examined the efficacy of a nurse-led brief behavioral intervention to improve dyspnea in patients with advanced lung cancer.

METHODS

Patients with advanced lung cancer reporting at least moderate breathlessness (n = 247) were enrolled in a randomized trial of a nurse-led two-session intervention (focused on breathing techniques, postural positions, and fan therapy) versus usual care. At baseline and weeks 8 (primary end point), 16, and 24, participants completed measures of dyspnea (Modified Medical Research Council Dyspnea Scale [mMRCDS]; Cancer Dyspnoea Scale [CDS]), quality of life (Functional Assessment of Cancer Therapy-Lung [FACT-L]), psychological symptoms (Hospital Anxiety and Depression Scale), and activity level (Godin-Shephard Leisure Time Physical Activity Questionnaire). To examine intervention effects, we conducted analysis of covariance and longitudinal mixed effects models.

RESULTS

The sample (Age
mean
= 66.15 years; 55.9% female) primarily included patients with advanced non–small cell lung cancer (85.4%). Compared with usual care, the intervention improved the primary outcome of patient-reported dyspnea on the mMRCDS (difference = –0.33 [95% CI, –0.61 to –0.05]) but not the CDS total score at 8 weeks. Intervention patients also reported less dyspnea on the CDS sense of discomfort subscale (difference = –0.59 [95% CI, –1.16 to –0.01]) and better functional well-being per the FACT-L (difference = 1.39 [95% CI, 0.18 to 2.59]) versus the control group. Study groups did not differ in overall quality of life, psychological symptoms, or activity level at 8 weeks or longitudinally over 24 weeks.

CONCLUSION

For patients with advanced lung cancer, a scalable behavioral intervention alleviated the intractable symptom of dyspnea. Further research is needed on ways to enhance intervention effects over the long-term and across additional outcomes.
Plasma Steroid Profiling Between Patients With and Without Diabetes Mellitus in Nonfunctioning Adrenal Incidentalomas
Authors: Nakano Yui , Yokomoto-Umakoshi Maki , Nakatani Kohta , Umakoshi Hironobu , Nakao Hiroshi , Fujita Masamichi , Kaneko Hiroki , Iwahashi Norifusa , Ogasawara Tatsuki , Fukumoto Tazuru , Matsuda Yayoi , Sakamoto Ryuichi , Izumi Yoshihiro , Bamba Takeshi , Ogawa Yoshihiro
Published: August 2024

Context

Adrenal incidentalomas, including nonfunctioning adrenal incidentalomas (NFAI), are associated with a high prevalence of diabetes mellitus (DM). While NFAI is diagnosed by exclusion when no hormone excess exists, subtle cortisol secretion may exist and contribute to DM development. However, it alone cannot explain the increased risk, and whether other steroid metabolites are involved remains unclear.

Purpose

To investigate steroid metabolites associated with DM in patients with NFAI using plasma steroid profiles.

Methods

Using liquid chromatography-tandem mass spectrometry, 22 plasma steroid metabolites were measured in 68 patients with NFAI (31 men and 37 women). Data were adjusted for age before normalization.

Results

Discriminant analysis showed that plasma steroid profiles discriminated between patients with and without DM in men (n = 10 and = 21, respectively) but not women: 11β-hydroxytestosterone, an adrenal-derived 11-oxygenated androgen, contributed most to this discrimination and was higher in patients with DM than in those without DM (false discovery rate = .002). 11β-hydroxytestosterone was correlated positively with fasting plasma glucose (r = .507) and hemoglobin A1c (HbA1c) (r = .553) but negatively with homeostatic model assessment of β-cell function (HOMA2-B) (r = −.410). These correlations remained significant after adjusting for confounders, including serum cortisol after the 1-mg dexamethasone suppression test. Bayesian kernel machine regression analysis verified the association of 11β-hydroxytestosterone with HbA1c and HOMA2-B in men.

Main Conclusion

Plasma steroid profiles differed between those with and without DM in men with NFAI. 11β-hydroxytestosterone was associated with hyperglycemia and indicators related to pancreatic β-cell dysfunction, independently of cortisol.
Overview and Diagnostic Approach in Autoimmune Neurology
Authors: McKeon Andrew , Pittock Sean J.
Published: August 2024

OBJECTIVE

The field of autoimmune neurology is rapidly evolving. This article reviews the epidemiology and pathophysiology as well as current approaches to clinical and paraclinical assessment, testing paradigms, and general principles of treatment.

LATEST DEVELOPMENTS

Improved recognition of autoimmune diagnoses among patients who have phenotypically diverse, subacute onset neurologic presentations is facilitated by disease-specific antibody biomarker discovery. These antibodies have varying associations with paraneoplastic causation (from no association to greater than 70% positive predictive value), immunotherapy responses, and outcomes. To simplify assessment in an increasingly complex discipline, neurologic phenotype-specific serum and CSF antibody evaluations are recommended. Clinical trials have led to the approval of monoclonal therapies for neuromyelitis optica spectrum disorder (NMOSD) and are underway for N-methyl-d-aspartate (NMDA) receptor and leucine-rich glioma inactivated protein 1 (LGI1) encephalitides.

ESSENTIAL POINTS

Autoimmune neurology is now a mainstream subspecialty, consisting of disorders with diverse presentations detectable using antibody testing of serum and CSF. Early and sustained immunotherapy (eg, corticosteroids, intravenous immunoglobulin [IVIg], plasma exchange) is recommended and may be supplemented by immune suppressants (eg, rituximab or cyclophosphamide) to sustain responses and optimize outcomes.
Autoimmune Movement Disorders
Authors: Balint Bettina
Published: August 2024

OBJECTIVE

This article reviews the clinical and antibody spectrum of autoimmune cerebellar ataxia and other autoimmune movement disorders. It highlights characteristic phenotypes and red flags to the diagnosis and how these rare, but treatable, disorders are integrated into a differential diagnosis.

LATEST DEVELOPMENTS

An increasing number of neuronal antibodies have been identified in patients with cerebellar ataxia, for example, against Kelch-like protein 11 (KLHL11), seizure-related 6 homolog–like 2, septin-3 and septin-5, or tripartite motif containing protein 9 (TRIM9), TRIM46, and TRIM67. Ig-like cell adhesion molecule 5 (IgLON5) antibody–associated syndromes have emerged as an important alternative diagnostic consideration to various neurodegenerative diseases such as Huntington disease or atypical parkinsonism. Opsoclonus-myoclonus syndrome emerged as the most relevant parainfectious movement disorder related to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).

ESSENTIAL POINTS

Autoimmune cerebellar ataxia and other autoimmune movement disorders encompass a broad spectrum of different clinical syndromes, antibodies, and immunopathophysiologic mechanisms. Clinical acumen is key to identifying the cases that should undergo testing for neuronal antibodies. Given the overlap between phenotypes and antibodies, panel testing in serum and CSF is recommended.
Stiff Person Syndrome and GAD Antibody–Spectrum Disorders
Authors: Dalakas Marinos C.
Published: August 2024

OBJECTIVE

Antibodies against glutamic acid decarboxylase (GAD), originally associated with stiff person syndrome (SPS), define the GAD antibody–spectrum disorders that also include cerebellar ataxia, autoimmune epilepsy, limbic encephalitis, progressive encephalomyelitis with rigidity and myoclonus (PERM), and eye movement disorders, all of which are characterized by autoimmune neuronal excitability. This article elaborates on the diagnostic criteria for SPS and SPS spectrum disorders, highlights disease mimics and misdiagnoses, describes the electrophysiologic mechanisms and underlying autoimmunity of stiffness and spasms, and provides a step-by-step therapeutic scheme.

LATEST DEVELOPMENTS

Very-high serum GAD antibody titers are diagnostic for GAD antibody–spectrum disorders and also predict the presence of GAD antibodies in the CSF, increased intrathecal synthesis, and reduced CSF γ-aminobutyric acid (GABA) levels. Low serum GAD antibody titers or the absence of antibodies generates diagnostic challenges that require careful distinction in patients with a variety of painful spasms and stiffness, including functional neurologic disorders. Antibodies against glycine receptors, first found in patients with PERM, are seen in 13% to 15% of patients with SPS, whereas amphiphysin and gephyrin antibodies, seen in 5% of patients with SPS spectrum disorders, predict a paraneoplastic association. GAD-IgG from different SPS spectrum disorders recognizes the same dominant GAD intracellular epitope and, although the pathogenicity is unclear, is an excellent diagnostic marker. The biological basis of muscle stiffness and spasms is related to autoimmune neuronal hyperexcitability caused by impaired reciprocal γ-aminobutyric acid–mediated (GABA-ergic) inhibition, which explains the therapeutic response to GABA-enhancing agents and immunotherapies.

ESSENTIAL POINTS

It is essential to distinguish SPS spectrum disorders from disease mimics to avoid both overdiagnoses and misdiagnoses, considering that SPS is treatable if managed correctly from the outset to prevent disease progression. A step-by-step, combination therapy of GABA-enhancing medications along with immunotherapies ensures prolonged clinical benefits.
Electroencephalographic Measures of Delirium in the Perioperative Setting: A Systematic Review
Authors: Bruzzone Maria J. , Chapin Benjamin , Walker Jessie , Santana Marcos , Wang Yue , Amini Shawna , Kimmet Faith , Perera Estefania , Rubinos Clio , Arias Franchesca , Price Catherine
Published: August 2024

Postoperative delirium (POD) is frequent in older adults and is associated with adverse cognitive and functional outcomes. In the last several decades, there has been an increased interest in exploring tools that easily allow the early recognition of patients at risk of developing POD. The electroencephalogram (EEG) is a widely available tool used to understand delirium pathophysiology, and its use in the perioperative setting has grown exponentially, particularly to predict and detect POD. We performed a systematic review to investigate the use of EEG in the pre-, intra-, and postoperative settings. We identified 371 studies, and 56 met the inclusion criteria. A range of techniques was used to obtain EEG data, from limited 1-4 channel setups to complex 256-channel systems. Power spectra were often measured preoperatively, yet the outcomes were inconsistent. During surgery, the emphasis was primarily on burst suppression (BS) metrics and power spectra, with a link between the frequency and timing of BS, and POD. The EEG patterns observed in POD aligned with those noted in delirium in different contexts, suggesting a reduction in EEG activity. Further research is required to investigate preoperative EEG indicators that may predict susceptibility to delirium.
Angiographic Features of Meningiomas Predicting Extent of Preoperative Embolization
Authors: Matsoukas Stavros , Feng Rui , Faulkner Denzel E. , Odland Ian C. , Durbin John , Tabani Halima , Schlachter Leslie , Gutzwiller Eveline , Kellner Christopher P. , Shigematsu Tomoyoshi , Shoirah Hazem , Majidi Shahram , De Leacy Reade , Berenstein Alejandro , Mocco J , Fifi Johanna T. , Bederson Joshua B. , Shrivastava Raj K. , Rapoport Benjamin I.
Published: August 2024

BACKGROUND AND OBJECTIVES:

Preoperative embolization is used as an endovascular adjunct to surgical resection of meningiomas. However, there is no standardized system to assess the efficacy or extent of embolization during the embolization procedure. We sought to establish a purely angiographic grading system to facilitate consistent reporting of the outcome of meningioma embolization and to characterize the anatomic and other features of meningiomas that predict the degree of devascularization achieved through preoperative embolization.

METHODS:

We identified patients with meningiomas who underwent preoperative cerebral angiography and subsequent resection between 2015 and 2021. Demographic, clinical, and imaging data were collected in a research registry. We defined an angiographic devascularization grading scale as follows: grade 0 for no embolization, 1 for partial embolization, 2 for majority embolization, 3 for complete external carotid artery embolization, and 4 for complete embolization.

RESULTS:

Eighty consecutive patients were included, 60 of whom underwent preoperative tumor embolization (20 underwent angiography with an intention to treat but ultimately not embolization). Embolized tumors were larger (59.0 vs 35.9 cc; P = .03). Gross total resection, length of stay, and complication rates did not differ among groups. The distribution of arterial feeders differed significantly across tumors in a location-specific manner. Both the tumor location and the identity of arterial feeders were predictive of the extent of embolization. Anterior midline meningiomas were associated with internal carotid (ophthalmic, ethmoidal) supply and lower devascularization grades (P = .03). Tumors fed by meningeal feeders (convexity, falcine, lateral sphenoid wing) were associated with higher devascularization grades (P < .01). The procedural complication rate for tumor embolization was 2.5%.

CONCLUSION:

Angiographic outcomes can be graded to indicate the extent of tumor embolization. This system may facilitate consistency of reported angiographic results. In addition, arterial feeders vary in a manner predicted by tumor location, and these patterns correlate with typical degrees of devascularization achieved in those tumor locations.
A single dose of radiation elicits comparable acute salivary gland injury to fractionated radiation
Authors: Johnson Amanda L. , Elder Sonia S. , McKendrick John G. , Hegarty Lizi M. , Mercer Ella , Emmerson Elaine
Published: August 2024

The salivary glands are often damaged during head and neck cancer radiotherapy. This results in chronic dry mouth, which adversely affects quality of life and for which there is no long-term cure. Mouse models of salivary gland injury are routinely used in regenerative research. However, there is no clear consensus on the radiation regime required to cause injury. Here, we analysed three regimes of γ-irradiation of the submandibular salivary gland. Transcriptional analysis, immunofluorescence and flow cytometry was used to profile DNA damage, gland architecture and immune cell changes 3 days after single doses of 10 or 15 Gy or three doses of 5 Gy. Irrespective of the regime, radiation induced comparable levels of DNA damage, cell cycle arrest, loss of glandular architecture, increased pro-inflammatory cytokines and a reduction in tissue-resident macrophages, relative to those observed in non-irradiated submandibular glands. Given these data, coupled with the fact that repeated anaesthetic can negatively affect animal welfare and interfere with saliva secretion, we conclude that a single dose of 10 Gy irradiation is the most refined method of inducing acute salivary gland injury in a mouse model.
The Effects of Daily-Living Risks on Breast Cancer-Related Lymphedema
Authors: Fu Mei Rosemary , Liu Bowen , Qiu Jeanna Mary , Sun Yuanlu , Axelrod Deborah , Guth Amber , Korth Stephanie , Kremer Howard L. , Wang Yao
Published: August 2024

Background

Conventional advice to reduce the risk of breast cancer-related lymphedema (BCLE) suggests avoidance of daily-living risks, and limited research has investigated these risks.

Objective

This study aimed to examine the occurrence, patterns, and effects of daily-living risks on BCLE.

Methods

A cross-sectional design was used to collect data from 567 patients at a metropolitan cancer center in the United States. The Lymphedema Risk-Reduction Behavior Checklist was used to assess the occurrence of 11 daily-living risks. Descriptive, regression, and factor analyses were performed.

Results

Significant odds of BCLE were associated with infection (odds ratio [OR] 2.58, 95% confidence interval [CI] 1.95–3.42), cuts/scratches (OR 2.65, 95% CI 1.97–3.56), sunburn (OR 1.89, 95% CI 1.39–3.56), oil splash or steam burns (OR 2.08, 95% CI 1.53–3.83), and insect bites (OR 1.59, 95% CI 1.18–2.13). The daily-living risks were clustered into factors related to skin trauma and carrying objects. Skin trauma risk was significantly associated with BCLE (B = 0.539, z = 3.926, OR 1.714, 95% CI 1.312–2.250; p < 0.001). Having three, four, or five skin trauma risks significantly increased the odds of BCLE to 4.31, 5.14, and 6.94 times, respectively. The risk of carrying objects had no significant or incremental effects on BCLE.

Conclusion

Complete avoidance of daily-living risks is challenging given 52.73% of patients incurred more than five daily-living risks. Our study findings underscore the importance of ‘what to do’ strategies to minimize infection and skin trauma.
The antivirulent Staphylococcal sRNA SprC regulates CzrB efflux pump to adapt its response to zinc toxicity
Authors: Raynaud Simon , Hallier Marc , Dréano Stéphane , Felden Brice , Augagneur Yoann , Le Pabic Hélène
Published: August 2024

Bacterial regulatory RNAs (sRNAs) are important players to control gene expression. InStaphylococcus aureus, SprC is an antivirulenttrans-acting sRNA known to base-pair with the major autolysinatlmRNA, preventing its translation. Using MS2-affinity purification coupled with RNA sequencing, we looked for its sRNA-RNA interactome and identified 14 novel mRNA targets. In vitro biochemical investigations revealed that SprC binds two of them,czrBanddeoD,and uses a single accessible region to regulate its targets, including Atl translation. Unlike Atl regulation, the characterization of the SprC-czrBinteraction pinpointed a destabilization of theczrABcotranscript, leading to a decrease of the mRNA level that impaired CzrB zinc efflux pump expression. On a physiological standpoint, we showed that SprC expression is detrimental to combat against zinc toxicity. In addition, phagocyctosis assays revealed a significant, but moderate, increase ofczrBmRNA levels in asprC-deleted mutant, indicating a functional link between SprC andczrBupon internalization in macrophages, and suggesting a role in resistance to both oxidative and zinc bursts. Altogether, our data uncover a novel pathway in which SprC is implicated, highlighting the multiple strategies used byS. aureusto balance virulence using an RNA regulator.
Comparative analysis of clinical efficacy of stereotactic robot-guided puncture hematoma drainage and conventional puncture hematoma drainage in the treatment of intracerebral hemorrhage
Authors: Gong Xin , Dong Hai-qing , Li Xin , Liu Zhen-jie
Published: August 2024

Objective: To compare and analyze the clinical effectiveness of conventional puncture hematoma drainage and stereotactic robot-guided puncture hematoma drainage in managing intracerebral hemorrhage.
Methods: This is clinical comparative research. One hundred and twenty patients with the intracerebral hemorrhage who underwent puncture hematoma drainage in Baoding No.1 Central Hospital from March 2020 to May 2023 were included and were assigned into the control groups(n=60) and experimental groups(n=60) according to different treatment methods. The experimental group underwent stereotactic robot-guided puncture hematoma drainage, while the control group underwent conventional puncture hematoma drainage treatment. The duration and situation of surgery, levels of inflammatory factors, as well as preoperative and 1-week postoperative GCS scores and NIHSS scores were compared and analyzed between the two groups.
Results: In comparison with the control group, the experimental group exhibited considerably less surgical duration(p=0.00), higher amount of intraoperative blood drainage and hematoma clearance rate(p=0.00). The experimental group possessed a substantially more reduced incidence of complications(10%) in comparison with the control group(25%), with a statistically substantial distinction(p=0.03). After therapy, CRP, TNF-a, and IL-6 degrees were considerably more decreased (p=0.00) in the experimental group in comparison with the control group, while GCS grades were considerably more prominent and NIHSS grades were considerably more reduced (p=0.00).
Conclusion: Stereotactic robot-guided puncture hematoma drainage is a dependable and safe operative method to treat patients who had intracerebral hemorrhage, resulting in various benefits such as short length of operation, less injury, less inflammatory reaction, high hematoma clear efficiency and satisfactory recovery of neurological function.
doi: https://doi.org/10.12669/pjms.40.8.8833
How to cite this: Gong X, Dong H, Li X, Liu Z. Comparative analysis of clinical efficacy of stereotactic robot-guided puncture hematoma drainage and conventional puncture hematoma drainage in the treatment of intracerebral hemorrhage. Pak J Med Sci. 2024;40(8):---------.  doi: https://doi.org/10.12669/pjms.40.8.8833 
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Perceptions of lived in experiences of healthcare workers during COVID-19 Pandemic in a tertiary Care hospital: A perspective from Pakistan
Authors: Ameer Saeed Awan Bushra , Mohsin Shamaila , Mashhadi Syed Fawad , Ud Din Mohi
Published: August 2024

Objective: This study aimed to explore the perceptions of frontline Healthcare Workers (HCWs) towards managing COVID-19 in Tertiary care hospital in Pakistan.
Method: This qualitative exploratory study was conducted from January to May 2021 at a Tertiary care hospital designated for COVID-19 patients in Rawalpindi Pakistan. Semi-structured in-depth interviews were conducted from twenty six HCWs. To acquire a sample that was diverse in terms of professional capacity, degree of experience and exposure, purposive sampling technique was used. After thematic analysis, themes were generated by identifying patterns among codes.
Results: Five themes emerged. All HCWs experienced significant amount of negative emotions including fear, uncertainty, imposing social distancing and workload. There were also positive experiences such as rewarding, call of duty and professional growth. HCWs experiences related to personal protective equipment (PPE) were communication issues, physical and dermatological issues, reuse and working confidently while wearing PPE. HCWs were buoyed by cooperation and facilitation, trainings and health education from administration. Coping mechanisms were used such as seeking team support, adjusting cognition to deal with reality and resorting to religion.
Conclusion: Negative emotions predominated in the beginning and positive emotions emerged gradually. PPE and administrative support played significant role. HCWs’ mental health was maintained in part by their self-coping styles. The findings of this study can be employed to inform and enhance future pandemic response initiatives.
doi: https://doi.org/10.12669/pjms.40.8.9010
How to cite this: Awan BAS, Mohsin S, Mashhadi SF, Mohi Ud Din. Perceptions of lived in experiences of healthcare workers during COVID-19 Pandemic in a tertiary Care hospital: A perspective from Pakistan. Pak J Med Sci. 2024;40(8):---------. doi: https://doi.org/10.12669/pjms.40.8.9010
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Τα ψάρια φωνάζουν: «Επιτέλους ΣΤΟΠ! Τα σκουπίδια σας και μπρος!»
Authors: Γεωργάκη Γεωργία
Published: August 2024

Το συγκεκριμένο σενάριο αποτελεί διδακτική πρόταση με τη μορφή Ατομικού Διδακτικού Σεναρίου σύμφωνα με το Νέο Αναλυτικό Πρόγραμμα Σπουδών για το Νηπιαγωγείο του 2021. Στηρίζεται στο Θεματικό Πεδίο «Παιδί, Σώμα, Δημιουργία και Έκφραση» με έμφαση στη θεματική ενότητα «Τέχνες». Η μεθοδολογική προσέγγιση, οι στρατηγικές και τα εργαλεία που χρησιμοποιούνται βασίζονται σε σύγχρονες θεωρίες μάθησης και διαμορφώνουν ένα περιβάλλον που υποστηρίζει την ολιστική ανάπτυξη των παιδιών, ενισχύει την κριτική σκέψη και τη δημιουργικότητα τους και ενθαρρύνει την ανάπτυξη δεξιοτήτων που είναι απαραίτητες για την επιτυχή προσαρμογή σε έναν συνεχώς μεταβαλλόμενο κόσμο. Τα παιδιά έχουν τη δυνατότητα να εκφράσουν δημιουργικά τις ιδέες και τα συναισθήματά τους, να ενισχύσουν τη φαντασία και την αναλυτική τους σκέψη, να μετουσιώσουν το προσωπικό τους βίωμα σε καλλιτεχνική έκφραση και δημιουργία. Στόχος του σεναρίου είναι να τα ευαισθητοποιήσει ως προς τις επιπτώσεις της θαλάσσιας πλαστικής ρύπανσης και να τα ενθαρρύνει να προτείνουν υπεύθυνες δράσεις δομώντας την ταυτότητά τους ως παγκόσμιοι ενεργοί πολίτες.
Βιβλιοκριτική: Αλέξιος Γ.Κ. Σαββίδης, «Για τις Πηγές της Ιστορίας και του Πολιτισμού του Βυζαντίου (Ελληνόγλωσσες και ξενόγλωσσες)-Εγχειρίδιο », εκδ. ΗΡΟΔΟΤΟΣ
Authors: Αθανασόπουλος Μάριος Π.
Published: August 2024

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