bluuebunny/crossref_metadata_2025_split huggingface dataset:
Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment
Authors: Chen Zhehui , Dong Hui , Liu Yupeng , He Ruxuan , Song Jinqing , Jin Ying , Li Mengqiu , Liu Yi , Liu Xueqin , Yan Hui , Qi Jianguang , Wang Fang , Xiao Huijie , Zheng Hong , Kang Lulu , Li Dongxiao , Zhang Yao , Yang Yanling 
Published: September 2022

Abstract
Background
cblC deficiency is the most common type of methylmalonic aciduria in China. Late-onset patients present with various non-specific symptoms and are usually misdiagnosed. The purpose of this study is to investigate the clinical features of patients with late-onset cblC deficiency and explore diagnosis and management strategies around puberty.

Results
This study included 56 patients (35 males and 21 females) with late-onset cblC deficiency who were admitted to our clinic between 2002 and September 2021. The diagnosis was confirmed by metabolic and genetic tests. The clinical and biochemical features, disease triggers, outcome, and associated genetic variants were examined. The onset age ranged from 10 to 20 years (median age, 12 years). Fifteen patients (26.8%) presented with symptoms after infection or sports training. Further, 46 patients (82.1%) had neuropsychiatric diseases; 11 patients (19.6%), cardiovascular diseases; and 6 patients (10.7%), pulmonary hypertension. Renal damage was observed in 6 cases (10.7%). Genetic analysis revealed 21 variants of the MMACHC gene in the 56 patients. The top five common variants detected in 112 alleles were c.482G > A (36.6%), c.609G > A (16.1%), c.658_660delAAG (9.8%), c.80A > G (8.0%), and c.567dupT (6.3%). Thirty-nine patients carried the c.482G > A variant. Among 13 patients who exhibited spastic paraplegia as the main manifestation, 11 patients carried c.482G > A variants. Six patients who presented with psychotic disorders and spastic paraplegia had compound heterozygotic c.482G > A and other variants. All the patients showed improvement after metabolic treatment with cobalamin, l-carnitine, and betaine, and 30 school-aged patients returned to school. Two female patients got married and had healthy babies.

Conclusions
Patients with late-onset cblC deficiency present with a wide variety of neuropsychiatric symptoms and other presentations, including multiple organ damage. As a result, cb1C deficiency can easily be misdiagnosed as other conditions. Metabolic and genetic studies are important for accurate diagnosis, and metabolic treatment with cobalamin, l-carnitine, and betaine appears to be beneficial.
Infliximab in the treatment of patients with severe COVID-19 (INFLIXCOVID): protocol for a randomised, controlled, multicentre, open-label phase II clinical study
Authors: Coldewey Sina M. , Neu Charles , Bloos Frank , Baumbach Philipp , Schumacher Ulrike , Bauer Michael , Reuken Philipp , Stallmach Andreas 
Published: September 2022

Abstract
Background
Despite the intense global research endeavour to improve the treatment of patients with COVID-19, the current therapy remains insufficient, resulting in persisting high mortality. Severe cases are characterised by a systemic inflammatory reaction driven by the release of pro-inflammatory cytokines such as IL-6 and tumour-necrosis-factor alpha (TNF-α). TNF-α-blocking therapies have proved beneficial in patients with chronic inflammatory diseases and could therefore pose a new treatment option in COVID-19. Hitherto, no results from randomised controlled trials assessing the effectiveness and safety of infliximab—a monoclonal antibody targeting TNF-α—in the treatment of COVID-19 have been published.

Methods
In this phase-2 clinical trial, patients with COVID-19 and clinical and laboratory signs of hyperinflammation will be randomised to receive either one dose of infliximab (5 mg/kg body weight) in addition to the standard of care or the standard of care alone. The primary endpoint is the difference in 28-day mortality. Further assessments concern the safety of infliximab therapy in COVID-19 and the influence of infliximab on morbidity and the course of the disease. For the supplementary scientific programme, blood and urine samples are collected to assess concomitant molecular changes. The Ethics Committee of the Friedrich Schiller University Jena (2021-2236-AMG-ff) and the Paul-Ehrlich-Institute (4513/01) approved the study.

Discussion
The results of this study could influence the therapy of patients with COVID-19 and affect the course of the disease worldwide, as infliximab is globally available and approved by several international drug agencies.

Trial registration
The trial was registered at clinicaltrials.gov (NCT04922827, 11 June 2021) and at EudraCT (2021-002098-25, 19 May 2021).
The efficacy of micropulse laser combined with ranibizumab in diabetic macular edema treatment: study protocol for a randomized controlled trial
Authors: Mi Xuejing , Gu Xiaoya , Yu Xiaobing 
Published: September 2022

Abstract
Background
At present, intraocular injection of anti-VEGF (vascular endothelial growth factor) drugs has replaced traditional laser therapy as the first-line treatment for DME (diabetic macular edema). However, ranibizumab, a commonly used anti-VEGF drug, is expensive and requires multiple intraocular injections. It places a heavy economic burden on patients with DME. Micropulse laser is safer than conventional laser and can reduce edema. Combined treatment with anti-VEGF may reduce the number of intraocular injections. This study will compare the efficacy of micropulse laser combined with ranibizumab treatment to ranibizumab monotherapy in the treatment of DME, providing a new regimen for future DME treatment.

Methods
This study is a prospective randomized double-blind controlled clinical trial (RCT) in patients with DME. After 1-year follow-up, visual acuity and macular edema regression will be compared between micropulse laser combined with ranibizumab group and ranibizumab monotherapy group to determine whether the efficacy of micropulse laser combined with ranibizumab treatment was not lower than that of ranibizumab monotherapy in the treatment of DME. Visual acuity measured by the ETDRS chart is the primary outcome measure. The secondary outcome measures are CMT (central macular thickness) measured by OCT (optical coherence tomography) and the number of injections of two groups. Changes in visual acuity and CMT of the two groups will be compared at 12-month follow-up. Before patients are recruited, we provide them with informed consent, in which we explain to them the purpose and process of the study.

Discussion
Micropulse laser combined with anti-VEGF drugs in the treatment of DME can reduce the number of intravitreal anti-VEGF injections, not only relieve the pain of the patients, but also ease the economic and psychological burden of patients, bringing great benefits. However, there is no treatment consensus for the parameters and specific methods of micropulse laser treatment for DME. There is a lack of clinical research data reference of micropulse laser combined with anti-VEGF therapy in clinical practice. This study intends to provide a new direction for clinical DME treatment and also provide a realistic consideration for the application of micropulse laser in DME treatment.

Trial registration
ClinicalTrials.gov NCT03690947. Registered on 1 October 2018.
Placental growth fActor Repeat sampling for Reduction of adverse perinatal Outcomes in women with suspecTed pre-eclampsia: study protocol for a randomised controlled trial (PARROT-2)
Authors: Hurrell Alice , Sparkes Jenie , Duhig Kate , Seed Paul T. , Myers Jenny , Battersby Cheryl , Clark Katherine , Green Marcus , Hunter Rachael M. , Shennan Andrew H. , Chappell Lucy C. , Webster Louise 
Published: September 2022

Abstract
Background
Pre-eclampsia is a complex pregnancy disorder, characterised by new or worsening hypertension associated with multi-organ dysfunction. Adverse outcomes include eclampsia, liver rupture, stroke, pulmonary oedema, and acute kidney injury in the mother, and stillbirth, foetal growth restriction, and iatrogenic preterm delivery for the foetus. Angiogenic biomarkers, including placental growth factor (PlGF) and soluble fms-like tyrosine kinase 1 (sFlt-1), have been identified as valuable biomarkers for preterm pre-eclampsia, accelerating diagnosis and reducing maternal adverse outcomes by risk stratification, with enhanced surveillance for high-risk women. PlGF-based testing for suspected preterm pre-eclampsia has been incorporated into national guidance. The role of repeat PlGF-based testing and its effect on maternal and perinatal adverse outcomes have yet to be evaluated.

Methods
The PARROT-2 trial is a multi-centre randomised controlled trial of repeat revealed PlGF-based testing compared to repeat concealed testing, in women presenting with suspected pre-eclampsia between 22+0 and 35+6 weeks’ gestation. The primary objective is to establish whether repeat PlGF-based testing decreases a composite of perinatal severe adverse outcomes (stillbirth, early neonatal death, or neonatal unit admission). All women prior to enrolment in the trial will have an initial revealed PlGF-based test. Repeat PlGF-based tests will be performed weekly or two-weekly, depending on the initial PlGF-based test result, with results randomised to revealed or concealed.

Discussion
National guidance recommends that all women presenting with suspected preterm pre-eclampsia should have a single PlGF-based test when disease is first suspected, to help rule out pre-eclampsia. Clinical and cost-effectiveness of repeat PlGF-based testing has yet to be investigated. This trial aims to address whether repeat PlGF-based testing reduces severe maternal and perinatal adverse outcomes and whether repeat testing is cost-effective.

Trial registration
ISRCTN 85912420. Registered on 25 November 2019
Factors influencing performance and injury risk in elite female Gaelic team sport players and future research directions: a narrative review
Authors: Duggan John David , Collins Kieran , Keane Karen 
Published: September 2022

AbstractBackgroundSports science research in elite female Gaelic team sports has increased in recent years, but still a large disparity exists between the volume of studies involving male and female players. As a consequence of this, it is difficult for practitioners to develop an evidence-based approach when working with female players.Main bodyIn this review, we discuss the current research available in elite female Gaelic team sports with focus on seven specific areas including physical and physiological demands, anthropometric and performance characteristics, injury risk, nutritional considerations, and female physiology. There appears to be unique physical demands data in match play across positions in Camogie, however, there is currently no comparative data available in ladies Gaelic football. Similarly, there is no research available on the physiological demands of both elite female Gaelic team sports. According to existing literature, performance characteristics such as speed and power are lower in this population compared to other elite female team sports. Although data is limited, the anthropometric characteristics of elite female Gaelic team sport players appear homogenous with some positional differences observed at a sub-elite level. Previous research has demonstrated a high prevalence of lower limb injuries in female elite Gaelic team sports and the provision of quality, evidence-based strength & conditioning could help mitigate these injury risks. Female Gaelic team sport players have been shown to have poor nutrition knowledge and inadequate intakes of micronutrients. Finally, although menstrual cycle phase and oral contraceptives have been shown to influence performance in other female intermittent sports, to date there has not been any research carried out in elite female Gaelic team sport players.ConclusionsIt is evident that limited research has been carried out on elite female Gaelic sport players. More up-to-date, high-quality investigations are needed to address the research gaps, which in turn should enable practitioners in the field to apply sound, evidence-based practice/theory when working with this population.
Hysteria in neurology: a diagnostic approach to conversive disorder
Authors: Sanz Giancola A. , Cuevas Iñiguez I. , Alvarez Garcia C. , Molina Liétor M.D.C. , Blanco Prieto M. 
Published: September 2022

IntroductionConversion disorder (a term that describes what was previously called hysteria) refers to motor or sensory symptoms, or both, that resemble a neurological disease, but that do not originate from or cannot be explained by a known physical disease.ObjectivesTo find reliable tools that can guide the difficult diagnosis of conversion disorder.MethodsBibliographic reviewResults

The exact prevalence of the disorder is unknown. It is estimated that approximately 5% of referrals to neurology are for this disorder. Approximately one third of patients referred to the neurologist have symptoms that cannot be explained by an organic disease. Involuntary movements are the most common motor manifestations of the conversive syndrome, being tremor one of the most frequent manifestations. The first differential diagnosis of conversion disorder is neurological disease. It is currently not necessary for the diagnosis to assess whether or not the symptoms are produced intentionally, as the assessment of conscious intentionality is unreliable. The neurological examination is the fundamental tool for the diagnostic approach, being even more enlightening than the complementary tests. Hoover’s sign, Babinski’s combined leg flexion, plantar flexion of the ankle, tremor and its distraction and synchronisation manoeuvres, as well as the clinical differences between epileptic seizures and non-epileptic seizures of psychogenic origin, are some of the reliable tools for a correct diagnosis.ConclusionsThe diagnosis of the disease should be one of exclusion. There must be clinical data showing clear evidence of incompatibility with a neurological disease and conversion symptoms do not correspond to known physiological mechanisms and anatomical pathways.DisclosureNo significant relationships.
Epileptic Seizures or not, that is the question: a case report
Authors: Wildenberg B. , Pereira D. , Carvalho I. , Madeira N. 
Published: September 2022

IntroductionPsychogenic nonepileptic seizures (PNES) consist of paroxysmal changes in responsiveness, movements, or behaviour that superficially resemble epileptic seizures.ObjectivesPresentation of a clinical case of a PNES in a patient with a diagnose of secondary epilepsy, illustrating the relevance of an adequate evaluation, differential diagnosis, and intervention.MethodsDescription of the clinical case, with brief literature review and discussion. A search was conducted on PubMed and other databases, using the MeSH terms “nonepileptic seizure”, and “epileptic seizure”.ResultsWe report the case of a 45-year-old female patient, brought to the emergency department because of tonic axial and limb nonsynchronous movements, closed eyes, long duration, with immediate awareness, no desaturation, tongue bite, facial flushing, dyspnoea or sphincter incontinency. She was medicated with clonazepam 1 mg and levetiracetam 1000 mg ev. TC-CE had no acute alteration. Bloodwork had no other major alteration except valproic acid below therapeutic levels (her usual medication, along with other antiepileptic drugs, antidepressant and antipsychotic). The antecedents of the patient: mild intellectual disability and an accidental traumatic brain injury in infancy, with secondary epilepsy. She was transferred to Psychiatry department. No electroencephalogram (EEG) was realized, because she had a recent one confirming PNES, and many other emergency observations with the diagnosis of PNES.ConclusionsThis clinical case showcases the diagnostic difficulties that clinicians face when there is an overlap in symptoms, emphasizing the need to combine patient history, witness reports, clinician observations, and ictal and interictal EEG to help distinguish these different clinical identities.DisclosureNo significant relationships.
Functional Neurological Disorder: a multidisciplinary approach
Authors: Alvarez Garcia C. , Gomez Martín A. , Molina Liétor M.D.C. , Cuevas Iñiguez I. , Sanz Giancola A. 
Published: September 2022

IntroductionFunctional neurological disorders (FNDs), also known as “conversion disorder”, consist in the appearance of neurological symptoms that do not correspond to any medical condition and produces an impairment in social, occupational and other areas in the patient’s life. This disorder can represent up to 30% of neurologist’s consultation. We introduce the case of a 23-year-old man who attended the emergency services due to fainting and was finally diagnosed with FND.ObjectivesTo summarize the difficulties of making a diagnosis of FND and the importance of a multidisciplinary approach.MethodsA narrative review through the presentation of a case.ResultsThe patient presented many absence seizures during his stay in the hospital. These episodes were characterized by non-reactivity, dysarthria, tremors, tachycardia and hyperventilation. The neurological examination and imaging tests didn’t show any pathological findings. During the psychiatric interview he revealed he had lived a severe conflict with his brothers the previous week and he was being excluded within his family. Furthermore he didn’t have any social support besides his mother in the city he was living, leading this situation to an incrementation of anxiety. Due to the absence of any abnormalities in the examination and recent psychological conflict that was affecting him, FND diagnose was made.ConclusionsVery frequently the absence of a clear psychological trigger and the presence of neurological alterations can hinder the study of the patient. This makes necessary a multidisciplinary approach and the knowledge of signs that can help to carry out an accurate diagnosis.DisclosureNo significant relationships.
Role of DSM5 Anxious Distress Specifier Interview in symptoms severity and medication adherence in 1st episode mania
Authors: El Sayed S. , Gomaa S. , Gomaa Z. 
Published: September 2022

Introduction-Anxious Distress Specifier is one of the newly added specifier in diagnosis and managment of bipolar disorder.This unique item may paly a role in not only the symptoms severity but also the degree of adherence to the psychotropics. -DSM5 Anxious distress specifier is not well studied in the 1st manic episode of bipolar disorder.Objectives1-To study the role of DSM5 Anxious Distress Specifier in the symptoms severity of 1st diagnosed manic episode 2-To investigate its role in medication adherence in thses patientsMethods1-DSM 5 Anxious distress specifier interview which includes 5 items : a- Keyed up or tense b-Restlessness c-Impaired concentration. d-Sense of foreboding e-Loss of control 2-The Young Mania Rating Scale (YMRS) is one of the most frequently utilized rating scales to assess manic symptoms. The scale has 11 items and is based on the patient’s subjective report of his or her clinical condition 3-Drug Attitude Inventory:consists of a questionnaire that is completed by the patient, pertaining to various aspects of the patient’s perceptions and experiences of treatment.Results1-There is a positive correlation between the mean score of Young mania Rating scale in 1st episode manic patients and the mean score of DSM5 Anxious Distress specifier Interview 2-The presence of high score of DSM5 Anxious Distress Specifier Interview is positively correlated to the mean score of Drug Attitude Inventory during the follow up visits after controlling the 1st episode maniaConclusionsThe presence of high levels of Anxious Distress in the 1st episde mania affected the symptoms severity and medication adherenceDisclosureNo significant relationships.
Direct and indirect predictors of medication adherence by adults with bipolar disorder
Authors: Cohen B. , O’Rourke N. 
Published: September 2022

IntroductionMedication adherence by persons with bipolar disorder (BD) is inconsistent. This is disconcerting, as BD is treatment responsive, side-effects are few, and the impact of both hypo/manic and depressive mood episodes can be considerable (e.g., self-harm).ObjectivesFor this study, we computed a path model to identify both direct and indirect predictors of medication adherence. This included both clinical and psychosocial independent variables (e.g., BD symptoms, psychological well-being, alcohol misuse).MethodsFrom the BADAS (Bipolar Affective Disorder and older Adults) Study, we identified a global sample of adults with the BD. Participants were recruited using microtargeted, Facebook advertising. This sample included persons living in Canada, U.S., U.K., Ireland, Australia and New Zealand (M = 55.35 years, SD = 9.65).ResultsDirect predictors included perceived cognitive failures and alcohol misuse. Of note, medication adherence is inversely associated with number of prescribed antipsychotic medications. Neither symptoms of depression nor hypo/mania emerged as direct predictors of medication adherence. Similarly, psychological
well-being appears indirectly associated with adherence (via BD symptoms).ConclusionsDespite the wide age range of participants (22 – 73 years), age did not emerge as a predictor of adherence. Nor do cognitive failures appear significantly associated with age suggesting that both young and older adults with BD perceived cognitive loss.DisclosureNo significant relationships.
Long-acting new generation antipsychotics in the maintenance treatment of bipolar disorders
Authors: Yavuz E. , Altınbaş K. 
Published: September 2022

IntroductionMaintaining remission, preventing from future episodes, better treatment adherence and improving the quality of life are main aims of long-term treatment in bipolar disorders (BD). In recent years, new generation long-acting injectable (LAI) antipsychotics have been frequently used in maintenance treatment for bipolar disorders.ObjectivesWe aimed to review socio-demographic and clinical characteristics of bipolar patients taking LAI treatment for maintenance treatment.MethodsClinical records of 44 bipolar patients who are on LAI treatment and followed in Mazhar Osman Mood Clinic (MOMC) of Selcuk University Medical Faculty were evaluated.ResultsNearly half of the patients were male (n:24, 54%). 43,2% of the patients were married. The mean age was 36.6±11.9 years and the mean duration of education was 11.5±3.9 years. All of the patients were diagnosed with bipolar 1 disorder. Most of the patients (65.9%) was on aripiprazole LAI while remaining was receiving paliperidone LAI for maintenance treatment. Ten of the patients discontinued the treatment due to the side effects and extrapyramidal side effects was the most common side effect. Relapse was observed in 25% of the patients and there was no difference between aripiprazole and paliperidone in terms of relapse rate.ConclusionsLAI new generation antipsychotics are taking place in long-term treatment of bipolar disorder via improving treatment adherence. Side effect profile of aripiprazole and paliperidone are different. However, we could not find any difference between two drugs in terms of side effects and relapse rates. Small sample size and shorter duration of follow-up should be considered as limitations.DisclosureNo significant relationships.