bluuebunny/crossref_metadata_2025_split huggingface dataset:
A synonymous codon variant altering splicing of RBCK1 expands the phenotype and genotype spectra of polyglucosan body myopathy 1
Authors: Wen Qi , Zhu Wenjia , Wen Xinmei , Zhang Shu , Sun Yanan , Li Yun , Wang Jingsi , Wang Yaye , Duo Jianying , Huang Yue , Lu Yan , Di Li , Xu Min , Wang Min , Chen Hai , Da Yuwei 
Published: April 2023

AbstractPolyglucosan body myopathy type 1 (PGBM1, OMIM #615895.) is a rare autosomal recessive disorder caused by RBCK1 mutations. The patients displayed polyglucosan accumulation in skeletal and cardiac muscles, giving rise to loss of ambulation and heart failure with or without immune system dysregulation. So far, only 24 patients have been reported, all of whom exhibited symptoms before adulthood. Here, we reported the first case of an adult‐onset PGBM1 patient with a novel compound heterozygous RBCK1 gene mutation consisting of a nonsense and synonymous variant affecting splicing.
‘They are always in the top of our mind’: Designated Teachers' views on supporting care experienced children in England
Authors: De La Fosse Lynn , Parsons Sarah , Kovshoff Hanna 
Published: April 2023

AbstractCare experienced children are at substantial risk for poor educational outcomes, so it is vital to understand where the challenges and opportunities may lie in providing improved support for them. Designated Teachers have statutory responsibilities within maintained schools in England to promote the educational achievement of care experienced children, but very little research has examined their views and experiences. Following purposive sampling, in‐depth, online, semi‐structured interviews were conducted with five Designated Teachers during the COVID‐19 pandemic to explore their experiences of the facilitators and barriers to supporting care experienced children. Four themes were developed through reflexive thematic analysis. Designated Teachers enacted change through both systemic working, and the provision of targeted support to address individual child needs. Various facilitators and barriers to role fulfilment were identified, including multi‐agency working and the impact of competing roles and responsibilities. Implications for professionals are discussed and suggestions for future research are made.
Constitutional instability and foreign direct investment in Africa
Authors: Youssouf Nvuh‐Njoya , Joseph Keneck‐Massil , Thierry Yogo Urbain 
Published: April 2023

AbstractThis paper assesses the impact of constitutional changes on foreign direct investment (FDI) in 49 African countries during the period 1980–2020. The paper uses a dummy variable related to the year of the constitutional change and the number of changes during the study period to capture the frequency of constitutional changes. The results reveal that an increase in the frequency of constitutional changes negatively affects FDI. The negative relationship between constitutional change and FDI is consistent across different measures of constitutional change and FDI and is robust to alternative empirical approaches. These results suggest that frequent constitutional changes may create uncertainty and instability in the investment climate, which may discourage foreign investors from investing in these African countries. The study provides evidence for policymakers that a stable constitutional framework may attract FDI in African countries.
Automated, machine learning–based alerts increase epilepsy surgery referrals: A randomized controlled trial
Authors: Wissel Benjamin D. , Greiner Hansel M. , Glauser Tracy A. , Mangano Francesco T. , Holland‐Bouley Katherine D. , Zhang Nanhua , Szczesniak Rhonda D. , Santel Daniel , Pestian John P. , Dexheimer Judith W. 
Published: April 2023

AbstractObjectiveTo determine whether automated, electronic alerts increased referrals for epilepsy surgery.MethodsWe conducted a prospective, randomized controlled trial of a natural language processing–based clinical decision support system embedded in the electronic health record (EHR) at 14 pediatric neurology outpatient clinic sites. Children with epilepsy and at least two prior neurology visits were screened by the system prior to their scheduled visit. Patients classified as a potential surgical candidate were randomized 2:1 for their provider to receive an alert or standard of care (no alert). The primary outcome was referral for a neurosurgical evaluation. The likelihood of referral was estimated using a Cox proportional hazards regression model.ResultsBetween April 2017 and April 2019, at total of 4858 children were screened by the system, and 284 (5.8%) were identified as potential surgical candidates. Two hundred four patients received an alert, and 96 patients received standard care. Median follow‐up time was 24 months (range: 12–36 months). Compared to the control group, patients whose provider received an alert were more likely to be referred for a presurgical evaluation (3.1% vs 9.8%; adjusted hazard ratio [HR] = 3.21, 95% confidence interval [CI]: 0.95–10.8; one‐sidedp = .03). Nine patients (4.4%) in the alert group underwent epilepsy surgery, compared to none (0%) in the control group (one‐sidedp = .03).SignificanceMachine learning–based automated alerts may improve the utilization of referrals for epilepsy surgery evaluations.
THE MANAGEMENT OF THE SECOND STAGE OF LABOUR IN PRIMIPARAE WITH EPIDURAL ANALGESIA
Authors: Gleeson N C , Griffith A P 
Published: April 2023

SUMMARYOne hundred and ninety‐four primiparae with lumbar epidural analgesia established during the first stage of labour were discouraged from pushing until the fetal head was visible at the perineum or until three hours had elapsed since full dilation of the cervix. The outcome in this group was compared with a similar group in whom pushing was commenced as soon as the second stage was diagnosed. The observed increase in spontaneous deliveries did not reach statistical significance. There was a reduction in non‐rotational forceps (p<0.05), but no change occurred in the incidence of rotational forceps deliveries. The high rates of oxytocin augmentation in these primiparous labours may account for the failure of delayed pushing to increase the spontaneous delivery rate in our population.
AN EVALUATION OF CLINICAL ASPECTS OF POST‐OPERATIVE AUTOTRANSFUSION, EITHER ALONE OR IN CONJUNCTION WITH PRE‐OPERATIVE ASPIRIN, IN CARDIAC SURGERY
Authors: Shirvani R 
Published: April 2023

SUMMARYTwo groups of 21 otherwise healthy patients undergoing coronary artery bypass grafting (CABG) for the first time were studied in order to evaluate the advantages and disadvantages of post‐operative autotransfusion using a red cell ‘salvage’ method. Group 1 patients (control group) were transfused using donor blood only. Group 2 patients were transfused with their own (autologous) blood, salvaged post‐operatively, although donor blood was also available to them if needed. The two groups were further subdivided according to whether the patients received aspirin pre‐operatively or not.The four subgroups thus formed were comparable pre‐ as well as intra‐operatively with respect to all available clinical and laboratory criteria. The post‐operative data, however, showed that the combination of pre‐operative aspirin and autotransfusion leads to excessive post‐operative bleeding, together with increased donor blood requirement. It was also shown that autotransfusion without aspirin does reduce the need for donor blood transfusion without any increase in post‐operative bleeding. Although aspirin alone did not increase post‐operative bleeding or donor blood requirement, its combination with autotransfusion should be avoided.
HLA AND DISEASE
Authors: Hpowis S , Trowsdale J 
Published: April 2023

SUMMARYIt is nearly 20 years since the first reports appeared linking genes within the human major histocompatibility complex, the HLA region, with disease.1–5 The literature now contains many hundreds of papers confirming an increased frequency of different HLA antigens in a diverse spectrum of conditions, ranging from narcolepsy to diabetes. Over the years many different hypotheses have been proposed to explain this association, but none has been proven. Nevertheless, our knowledge of the HLA region and the function of its many genes is expanding rapidly and the pathogenesis of many HLA‐linked diseases may soon become apparent. In this review we aim to provide clinicians with a broad understanding of the basis for the association between HLA and disease. We will describe the genes of the HLA region before discussing the diseases with which they are linked. Finally, we will explore mechanisms through which HLA genes might influence disease.
PORTAL HYPERTENSION DUE TO HEPATOSPLENIC SCHISTOSOMIASIS: A CASE REPORT AND REVIEW OF THE LITERATURE
Authors: Eyres K S , Kantharia B , Magides A D , Ali H H , MacDonald R C 
Published: April 2023

SUMMARYAlthough hepatosplenic schistosomiasis is the commonest cause of liver disease worldwide, the diagnosis is not often considered in European countries.A case of Schistosomiasis mansoni complicated by portal hypertension is reported to demonstrate how diseases endemic to an immigrant's homeland can present many years later in non‐endemic countries.
TRAUMATIC CARDIAC TAMPONADE: A HEARTBREAKING TALE
Authors: Scott A D N 
Published: April 2023

SUMMARYPenetrating cardiac injuries following civil violence are less common in Britain than in other parts of the world,1 but, in the light of recent evidence,2,3 the incidence of the problem is likely to increase.4,5 The patient described in this report demonstrates the pitfalls in the management of traumatic cardiac tamponade and highlights the need for a change in the management of the seriously injured patient.
CROHN'S DISEASE OF THE VULVA IN CHILDHOOD
Authors: Tuffnell D , Buchan P C 
Published: April 2023

SUMMARYA case of vulval Crohn's disease in childhood is presented. The presentation of this disease as a vulval lesion is well recognised, either as the initial complaint,1or as a metastatic lesion.2–4Crohn's disease in childhood is well recognised and up to 49% of sufferers may have perianal disease.5Vulval Crohn's disease in children, however, is uncommon, especially when it is the presenting symptom.
AN AUDIT OF TRAUMA DEATHS IN NEWCASTLE UPON TYNE
Authors: Sen B , Maitra A 
Published: April 2023

SUMMARYThe TRISS methodology was applied to identify unexpected trauma deaths during a one‐year period. Out of a total of 104 deaths, 50 were hospital deaths (M = 0.6837). Twelve (27%) of these deaths were judged to be unexpected, ie, had a probability of survival (Ps) ≥0.50 (Z = +4.80). Those deaths deemed to be unexpected were subject to further analysis. The implications of these findings are discussed.
A SURVEY OF HEAD INJURIES IN A GENERAL HOSPITAL
Authors: Wilson PB 
Published: April 2023

SUMMARYThis paper reports the incidence of head injuries as patients attended a general hospital Accident & Emergency Department. The survey was carried out over a twelve‐month period. The Accident & Emergency Department of Luton & Dunstable Hospital sees approximately 60,000 new patients every year. It is situated in close proximity to the M1 motorway and other major road systems. Facilities are available on site for computerised tomography from Monday to Friday between 9.00 am and 5.00 pm. At other times, if it is considered necessary after consultations with our neurosurgical colleagues, they are referred to the Royal Free Hospital, 30 miles away.
BETA BLOCKERS AND QUALITY OF LIFE
Authors: Cruikshank J M , McAinsh J 
Published: April 2023

SUMMARYHypertension is an asymptomatic condition which can be life threatening. It is thus important that hypertensive patients maintain compliance with their therapy. This can be put at risk if the patient experiences adverse affects or if the patient's lifestyle is significantly altered in some way. The ability to perform daily activities and derive satisfaction is referred to as quality of life. With this in mind the published literature is reviewed here with regard to comparative studies involving beta‐blockers.The balance of the evidence reviewed indicates that there are differences in quality of life between ACE inhibitors and the non‐selective, lipophilic beta blocker, propranolol, favouring the former. However, this is clearly not a class difference as atenolol, which is beta1 selective and hydrophilic, results in a similar quality of life profile to that with either captopril or enalapril. This difference between atenolol and propranolol probably arises out of their differing pharmacology, as opposed to any fundamental difference in their blood pressure lowering ability.There are probably too few studies to compare beta blockers and either calcium antagonists or diuretics definitively with regard to quality of life. What little evidence there is suggests a difference between propranolol and verapamil, with the latter giving the better quality of life. However, no difference was observed between verapamil SR and atenolol. Although data are very limited it appears that atenolol impacts more favourably than thiazide diuretics.
SPONTANEOUS RUPTURE OF NORMAL SPLEEN: AN ENIGMA RECALLED
Authors: Kumar S , Gupta A , Shrivastava UK , Mathur SB 
Published: April 2023

SUMMARYThat a normal spleen can rupture spontaneously has long been a point of debate. A definitive case is reported here in an attempt to resolve the issue in its favour. Spleen involved in tropical diseases like malaria, infectious mononucleosis and typhoid fever is prone to rupture spontaneously as well as in cases follow minor trauma.1 In contrast, normal spleen ruptures almost always following severe trauma, such as road accidents or fall from significant heights. Though cases of spontaneous rupture of normal spleens have appeared off and on in the past, doubt has always surrounded the very existence of such an entity. We are reporting a definitive case of spontaneous rupture of normal spleen. This is only the second case of its kind since 1958 and the first ever from the Indian subcontinent.
PARANEOPLASTIC PARALYSIS IN A PATIENT WITH MALIGNANT FIBROUS HISTIOCYTOMA
Authors: Reinecke L , Thornley A L 
Published: April 2023

SUMMARYA patient presented with lower limb paralysis and a large malignant fibrous histiocytoma (MFH) on her back. Metastatic disease to the spine was excluded and the diagnosis of paraneoplastic paralysis was made. This may be the first described case of a neuromyopathic paraneoplastic syndrome in malignant fibrous histiocytoma. Tissue culture and electron microscopy assisted in establishing the diagnosis of the tumour. A hitherto unrecognised endocrine factor may account for the hypokalaemia which was a feature in this patient.
THE VALUE OF SEROLOGICAL TESTS FOR SYPHILIS IN ATYPICAL GENITAL ULCER DISEASE
Authors: Fernando J J R , Wanas T M 
Published: April 2023

SUMMARYA 45‐year‐old heterosexual man presented with phimosis three weeks after arriving in this country from India. Examination under anaesthesia and circumcision revealed a large ulcer on the ventral aspect of the penis around the fraenum. Histopathological examination of a biopsy taken from the ulcer revealed granulation tissue with inflammatory cell infiltrate. Specific and non‐specific serological tests for syphilis carried out four weeks after the initial presentation showed high titres. The importance of serological tests for syphilis in genital ulcer disease, especially in atypical presentations, is discussed.
UNSUSPECTED FACTORS IN ‘SELF‐LIMITING’ AILMENTS
Authors: Bennett J D C , McFarlane H W 
Published: April 2023

SUMMARYAn unsuspected subtotally perforated eardrum treated with wax softening drops shows how clinical findings do not always correlate with symptoms or history. Attention is drawn to the dilemma posed by delegating matters such as diagnosis and prescribing which have been considered to be purely in the medical sphere.
THE AETIOLOGY AND PATHOGENESIS OF VAGINAL CANDIDOSIS: AN UPDATE
Authors: Granger S E 
Published: April 2023

SUMMARYThe aetiology and pathogenesis of the condition of vaginal candidosis is discussed in brief. The causative organism, the incidence and source of infection and various host and pathogen factors related to the disease state are dealt with. An update of current work relating to the cause of the recurrent condition is presented.
THE TREATMENT OF ACUTE AND CHRONIC VAGINAL CANDIDOSIS
Authors: SCUDAMORE J A , Tooley P J H , Allcorn R J 
Published: April 2023

INTRODUCTIONVaginal candidosis is one of the most common infections of the vagina and the first accredited record of the disease appeared in 1849. Over the years the terms ‘candidiasis’ and ‘candidosis’ have been used, but it is generally accepted now that the terms are synonymous, and the term most commonly in use today is ‘candidosis’. Mainly caused by the yeastCandida albicans, the condition is characterised by intense inflammation of the vaginal mucosa and a curdy, off‐white discharge; it is often associated with severe vulval itching and possibly burning pain.The severity of symptoms seems to vary greatly from patient to patient and the reason for this is unclear. It is suggested that in some patients there may be an element of hypersensitivity. Vaginal candidosis may occur in children but is most common in adults and only sometimes affects the elderly. The majority of women will suffer at least one attack of vaginal candidosis during their lifetime, and there are several predisposing factors such as diabetes, pregnancy and antibiotics. Some authorities consider the condition more frequent in those taking oral contraceptives or other hormones.
INFARCTION OF THE TONGUE IN WEGENER'S GRANULOMATOSIS
Authors: Rodgers H , Quirke P , Lipkin G W , John A M Brown 
Published: April 2023

SUMMARYWegener's granulomatosis is a form of systemic vasculitis. Untreated, it has a 90% two year mortality,1 but complete remission can be obtained in 93% of patients following treatment with cyclophosphamide (usually in combination with steroids).2 There is early and major involvement of the respiratory tract.3 Renal involvement adversely affects prognosis.2
WOLFF‐PARKINSON‐WHITE SYNDROME MIMICKING MYOCARDIAL INFARCTION ON ECG — EXPLOITATION BY A HEROIN ADDICT
Authors: Wheeldon N M 
Published: April 2023

SUMMARYWolff‐Parkinson‐White (WPW) syndrome produces several electrocardiographic features, including mimicking the changes of myocardial infarction.A case is described of an astonishingly well‐informed heroin addict, who himself had WPW syndrome and who exploited his condition attempting to obtain opiates from hospital.
COVERT TOXOCARIASIS – A CAUSE OF RECURRENT ABDOMINAL PAIN IN CHILDHOOD
Authors: Nathwani D , Laing R B S , Currie P F 
Published: April 2023

SUMMARYToxocariasis, usually caused by Toxocara canis, is a zoonosis acquired by ingestion of worms which inhabit the gut of young canines. Domestic pets, such as dogs, become infected from soil in public parks and playgrounds which are often heavily contaminated.1 Although toxocariasis is often regarded as having two principal, though uncommon, manifestations — visceral larva migrans (VLM) and ocular toxocariasis (OT) — recent studies have suggested otherwise.2,3 A third, more common, condition, termed ‘covert toxocariasis’, describes patients in whom positive toxocara serology is associated with a number of systemic and localised symptoms and signs (notably abdominal pain) but not VLM or OT. A quarter of patients with covert toxocariasis have no eosinophilia and, although symptoms regress after treatment, they may persist for months or years. We report a 13‐year‐old girl with recurrent abdominal pain who, despite positive toxocara serology, was extensively investigated for other abdominal pathology.
FOLLOW‐UP OF CHILDREN BORN TO HYPERTENSIVE MOTHERS
Authors: Wilson D C , Harper A , McClure G , Halliday H L , Reid M McC 
Published: April 2023

SUMMARYMaternal hypertension has significant adverse effects on perinatal outcome. We aimed to assess whether there are long‐term effects on growth and neurodevelopment in childhood. Thirty‐seven children were reviewed at a median age of 56 months. Although maternal hypertension had had a significant impact on perinatal outcome of these children, most had normal growth and development in childhood. The severity of maternal hypertension was influential on perinatal outcome, but not on long‐term outcome.
HISTOPATHOLOGY: ITS ROLE IN THE DIAGNOSIS OF A CHILD WITH INTUSSUSCEPTION
Authors: Rashid A‐M H , Williams R Menai , Strang C 
Published: April 2023

SUMMARYSpontaneous expulsion of a small portion of the intestinal mucosa per rectum, in an infant, associated with ileocolic intussusception is an extremely rare condition. This appears to be the first report of such a clinical presentation. The initial diagnosis was raised by the histopathologist following examination of the eliminated piece of tissue. Subsequent barium enema and laparotomy confirmed the diagnosis and the ileocolic intussusception was successfully reduced.This unusual presentation, together with a review of the pertinent literature, is discussed. Our findings indicate that both the clinicians and histopathologists should be aware of this phenomenon and stress the importance of the histological examination of any unusual faecal matter. This may prove to be a simple, quick and cheap method of investigation of this condition.
ENDOMETRIOSIS – THE PROBLEMS OF INTESTINAL OBSTRUCTION
Authors: Hunt T M , Kelly M J 
Published: April 2023

SUMMARYEndometriosis is a relatively common condition in women of child‐bearing age, and coincidental intestinal serosal involvement is frequently recognised. However, intestinal obstruction, although reported, is rare. We report what we believe is the first case with synchronous ileo‐caecal and rectosigmoid obstructing endometriomas. Endometriosis as a cause of bowel obstruction is discussed and in particular the differential diagnosis from Crohn's disease and malignancy.
PERICARDIAL EFFUSION — AN UNCOMMON COMPLICATION OF SALMONELLA ENTERITIS
Authors: Doig J C , Ferner R E , ReiD D S 
Published: April 2023

SUMMARYA 62‐year‐old lady who was receiving corticosteroids for rheumatoid arthritis was admitted suffering from dehydration due to salmonella enteritis. Despite rehydration and appropriate chemotherapy she remained unwell and developed hypotension and elevation of her jugular venous pressure. Echocardiography and subsequent aspiration demonstrated a purulent pericardial effusion from which S typhimurium was cultured. Following aspiration and a change of antibiotic therapy, her condition improved dramatically.
THE NEUROLEPTIC MALIGNANT SYNDROME: A MISSED DIAGNOSIS?
Authors: Saunders B P , Trewby P N 
Published: April 2023

SUMMARYThe neuroleptic malignant syndrome (NMS) is an idiosyncratic reaction to major tranquilliser drugs characterised by hyperpyrexia, extrapyramidal disorders and altered consciousness. First described in 1968 by Delay and Deniker, early case reports suggested a mortality of between 20 and 30%.1–3Though the syndrome is now more widely recognised, the diversity of its clinical features may not always be appreciated and may lead to diagnostic confusion with other, more common, disorders. We report on two severe cases of NMS: in the first the diagnosis was initially thought to be sepsis from a urinary tract infection, and in the second the primary clinical diagnosis was of a mid brain infarction.