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PubMed2026

NMR metabolomics and glycomics for cancer detection in patients with non-specific symptoms: a prospective observational cohort study.

BACKGROUND: Early cancer diagnosis in patients with non-specific symptoms is limited by the lack of discriminatory tests. Within the Oxfordshire Suspected CANcer (SCAN) pathway, exploratory biomarker work showed that serum 1H NMR-based metabolomics can identify cancer with high accuracy. SCAN2 evaluated whether integrating metabolomics with glycomics provides complementary molecular information and improves discrimination in a clinically complex, real-world population. METHODS: Serum from 369 SCAN patients (59 cancers) was analysed using AXINON® System-derived NMR metabolomics and HPLC-MS glycomics. Machine-learning models were trained to predict cancer status, with performance assessed by receiver operating characteristic (ROC) analysis of pooled cross-validated predictions. To place cancer risk in a broader clinical context, a second classifier modelling alternative non-cancer diagnosis was incorporated, and mean predicted probabilities from both models were jointly projected into a two-dimensional space, maintaining strict separation of training and test data. FINDINGS: In the full cohort, integration of glycomics with metabolomics achieved an AUC of 0.814 (95% CI 0.808-0.820). In a refined sub-cohort excluding major comorbidities and selected cancer types (32 cancers, 277 non-cancers), performance improved to an AUC of 0.884 (95% CI 0.879-0.890). Discriminatory features included cancer-associated biantennary fucosylated glycans alongside amino acid metabolites (glutamate, histidine) and lipoprotein-related measures. A classifier distinguishing metastatic from non-metastatic disease (n = 29 vs. 30) achieved an AUC of 0.80. Joint probability analysis in the full cohort preserved cancer-associated signatures across comorbidity burden, with projection-based classification achieving an accuracy of 89.2% (95% CI 85.7-92.6). INTERPRETATION: These findings validate the SCAN1 metabolomic signature in a more clinically complex cohort and indicate that integrating glycomics with metabolomics provides complementary biological information for cancer discrimination. Joint probability analysis provides an interpretable framework for cancer risk stratification within multimorbid diagnostic pathways, supporting the clinical potential of scalable multi-omics blood testing. FUNDING: EPSRC, EU Horizon 2020, Wellcome/MLSTF, Novo Nordisk Foundation.

Humans↗

PubMed2026

Outcomes at rapid diagnostic centres and the association between non-specific symptoms and cancer: A systematic review and meta-analyses of up to 21,392 patients.

INTRODUCTION: Cancer remains a leading cause of mortality and poses a significant public health challenge. Several non-specific symptoms (NSSs) often indicate non-serious disease but can also accompany malignancy even in the absence of organ-specific signs. Therefore, the aim of the study was to comprehensively delineate the association between the most common NSSs (weight loss, fatigue, pain and nausea/appetite loss) and cancer or non-cancer diagnoses. METHODS: Database searches of PubMed and Embase were conducted applying search criteria to identify studies that investigated common NSSs in cancer patients diagnosed through rapid diagnostic centres (RDCs). The quality of the included studies was assessed using a modified Newcastle-Ottawa Scale (NOS). For each symptom, pooled relative risks (RRs) with 95% confidence intervals were derived using random-effects meta-analysis. RESULTS: Eleven studies met the inclusion criteria. All studies were considered to be of high methodological quality. The most frequent disease locations for cancer entities included hematologic, lung and lower gastrointestinal. Together with miscellaneous, rheumatic, and musculoskeletal conditions, these were the most common for non-cancer diagnoses. Nausea/appetite loss showed a statistically significant association with cancer (RR=1.20, 95%-CI 1.07-1.35). Pain showed a non-significant association (RR=1.07, 95%-CI 0.75-1.53) with substantial between-study heterogeneity, and weight loss showed a non-significant inverse trend (RR=0.92, 95%-CI 0.84-1.02). Fatigue showed no association with cancer (RR=1.00, 95%-CI 0.85-1.18). DISCUSSION/CONCLUSION: NSSs may be valuable for cancer risk assessment, but the associations remain modest. The complexity of patients' clinical presentations suggests that additional factors likely influence the cancer risk. Future research should examine symptom combinations and, where data allow, perform subgroup analyses.

Humans↗

PubMed1977

Clinical spectrum of gonococcal infection in women.

The medical records of 278 women infected with Neisseria gonorrhoeae during a 6-month period were reviewed. These represented 75% of the infections in women at Boston City Hospital during this time. Women who presented to the venereal-disease clinic because they had had contact with an infected man and women who were found to be infected during routine examinations in the obstetrics-and-gynaecology clinic were usually free of symptoms or had non-specific symptoms such as vaginal discharge. However, these women accounted for only 108 (39%) of the 278 infections. Most of the infections were in women who presented to the emergency-care areas of the hospital with symptomatic gonococcal infections. At least 86 (31%) of the 278 infections were in women who had pelvic inflammatory disease. These data indicate that the clinical spectrum of gonococcal infection varies according to where the patients are seen and that the widely held concept that most gonococcal infections in women are asymptomatic may be erroneous.

Adolescent↗

PubMed2025

Co-morbid monogenic disorders at chromosome region 1q2: LMNA- and FLG-related disorders in a patient referred for assessment of joint hypermobility.

The phenotypic similarities and genetic heterogeneity occurring in diverse forms of Ehlers Danlos Syndrome (EDS) subtypes and many heritable connective tissue disorders can pose a diagnostic challenge. In the wake of the growing applications of next-generation sequencing technologies including exome and genome sequencing, opportunities for achieving definitive genetic diagnosis are increasingly arising. We present a 46-year-old man with joint laxity, recurrent joint subluxations, pelvic floor dysfunction, and postural orthostatic tachycardia syndrome (POTS), who was referred for EDS assessment. His medical history included morbid obesity requiring gastric bypass surgery, hearing loss, asthma, retinopathy, myopia, atrial septal defect, narcolepsy with cataplexy, polyneuropathy, folliculitis, lichen simplex chronicus, atopic dermatitis, and hypogonadism. His family history was significant for multiple first- and second-degree relatives who died from cardiac diseases including cases of childhood deaths. Physical examination showed joint laxity with Beighton score of 3/9, bilateral pes planus, hearing loss and macrocephaly. Exome sequencing revealed heterozygous variants LMNA c.1262 T > C p.L421P [classified as likely pathogenic], FLG c.2282_2285del p. S761Cfs*36 [classified as pathogenic], and FLG c.1501 C > T p. R501* [classified as pathogenic]. Mitochondria sequencing revealed a variant of uncertain significance (VUS), MT-ND2 m.5047 T > C p.V193A that is present at 9% heteroplasmy in blood. These findings show co-occurrence of pathogenic sequence variants in neighboring genes located in chromosome 1q2 region [LMNA and FLG] in a patient with features of hereditary connective tissue disorders. Our study highlights the capability of exome sequencing in achieving some actionable diagnosis in cases of co-morbid genetic disorders with overlapping and non-specific symptoms.

Humans↗

PubMed2026

The Genetic Architecture of Chronic Cough: From Sensory Hypersensitivity to Treatable Trait.

Chronic cough is a prevalent global clinical disorder with substantial quality-of-life impairment, and refractory cases remain a major unmet medical need. Cough hypersensitivity syndrome is the core pathological mechanism of chronic cough, and growing genetic evidence has confirmed that inherited susceptibility shapes cough hypersensitivity, clinical heterogeneity and therapeutic responsiveness, redefining chronic cough as a biologically mediated sensory-neural disorder rather than a non-specific secondary symptom of airway diseases. This review summarises genetic evidence for chronic cough from family-based studies, pharmacogenomics and genome-wide association studies (GWAS), revealing distinct genetic architectures of chronic dry cough and sputum production, with enrichment of sensory-neural pathway variants and key genetic loci such as replication factor C subunit 1 (RFC1) functional genomic analyses link genetic variation to vagal afferent excitability, and rare genetic neurological disorders further illuminate the neurogenic basis of cough hypersensitivity. Moreover, genetic insights identify tractable treatable traits and rationalise antitussive drug development, supporting genotype-guided patient stratification. We conclude that integrating genetic architecture into clinical phenotyping and translational research provides a critical framework for precision management of chronic cough, and future progress relies on harmonised deep phenotyping and multi-ancestry genetic studies.

RFC1 gene↗

PubMed1979

Patterns of postcibal gastroesophageal reflux in symptomatic infants.

Symptomatic infants displayed three patterns of gastroesophageal reflux after drinking apple juice (20 ml/kg or 300 ml/m2 of body surface area). The type I pattern occurred in patients who had continuous postcibal gastroesophageal reflux, large hiatal hernias and frequently required an antireflux operation. A functional motility disorder suggesting delayed gastric emptying appeared to be important in infants with discontinuous reflux (type II pattern). These infants had frequent gastroesophageal reflux for only 2 3/4 hours postcibally, antral-pylorospasm, increased low esophageal sphincter pressures, and a high incidence of pulmonary symptoms and non-specific watery diarrhea. The mixed (type III) pattern of gastroesophageal reflux occurred in a small number of infants and exhibited features of both type I and II patterns.

Child, Preschool↗

PubMed1978

Consequences of ileal dysfunction: an approach to management.

Fourteen patients with ileal dysfunction due to resection or bypass were encountered over an 18-month period. Symptoms had been present for a mean period of 1.8 years. Diarrhoea was a universal symptom, and varied from mild to incapacitating. Weight loss, due in part to malabsorption and in part to the patients' fear of eating, occurred in 10 of 14 patients. The chief metabolic abnormalities were steatorrhoea and hypokalaemia. Vitamin B12 deficiency, folate deficiency, anaemia, hypoalbuminaemia, hypocalcaemia, hypomagnesaemia, hyperoxaluria, and an abnormal prothrombin ratio were less frequently seen. Treatment with cholestyramine and/or long-chain fat restriction effectively reduced diarrhoea in every case, and this was supplemented by replacement of specific deficiencies. There was little added benefit from non-specific antidiarrhoeal agents. It was found that the major symptoms of ileal dysfunction are readily treated, but that attention should also be given to a number of nutritional deficiencies.

Adult↗

PubMed1976

A fatal encephalopathy in chronic haemodialysis patients.

A distinct neurological syndrome in twelve chronic haemodialysis patients is described. This syndrome is currently the leading cause of death in one Denver dialysis unit. The hallmarks of this syndrome are progressive speech difficulties, mental changes, and a markedly abnormal electroencephalogram which may be present months before the clinical signs appear. Additional clinical features including seizures, myoclonus, asterixis, apraxia, focal neurological signs, and psychiatric symptoms may also be observed. Neuropathological changes are slight and non-specific. The aetiology of this syndrome is unknown but the clinical and pathological features suggest a toxic/metabolic disorder. To date, this disorder has been refractory to several therapeutic measures.

Adult↗

PubMed1977

[Spontaneous aortic dissection. Diagnostic experience with 32 patients].

Of 48 patients in whom angiography was carried out on the clinical suspicion of spontaneous aortic dissection, the diagnosis could be confirmed in 18 cases only. On the other hand, aortic dissection was discovered incidentally in 14 patients on whom angiography was being carried out for other reasons. The high incidence of incorrect diagnosis is due to the variety of clinical symptoms caused by various types of dissection combined with the non-specific radiological findings on chest radiographs. Unlike plain films, aortography, provided a suitable technique is employed with an understanding of the possible sources of error, gives a high degree of diagnostic certainty with little risk. It is therefore always indicated when the demonstration or exclusion of an aortic dissection is likely to influence treatment.

Adult↗

PubMed1978

Recurrent genital candidosis in women and the effect of intermittent prophylactic treatment.

A study of clotrimazole for the treatment of recurrent genital candidosis unexpectedly showed that symptoms and infection can be dissociated. The aim of the study was to see if intermittent antifungal treatment would reduce symptoms in women constantly distressed by recurrent genital candidosis. Forty women seriously affected by the condition were initially given oral and local antifungal treatment. When the patients were symptom-free and the vagina was free of yeasts, they were entered into a double-blind clinical trial and were treated prophylactically for four months with either intermittent clotrimazole pessaries and cream or a placebo. The prophylactic treatment kept symptoms below a critical level but did not affect the return of the yeasts to the vagina. This dissociation between symptoms and vaginal yeasts was unexpected. Rectal yeast carriage was unaffected by prophylactic vaginal treatment. Male contacts and patients both showed a high incidence of non-specific genital infection. This association has seldom been reported. A few patients cultured yeasts from their homes but this environment was not considered a major source of reinfection. The vaginal pH did not appear to be altered by the presence of yeasts. The results of the study suggested that symptoms in women with recurrent genital candidosis were not caused by yeasts alone, and possibly the reason for recurrences might lie not in constant reinfection by yeasts, but in failure to recognise and remove a primary underlying factor, perhaps infection with other sexually transmitted agents. The question of a synergistic action between yeasts and other organisms is discussed.

Adult↗

PubMed1979

Value of new diagnostic aids in relation to the disease process in pancreatic cancer.

An assessment was made of the diagnostic value of six tests done on 28 patients who proved to have resectable and 45 patients who had non-resectable pancreatic cancer. Ultrasonography and endoscopic retrograde cholangiopancreatography (ERCP) were the most sensitive tests for the diagnosis of resectable tumours. Ultrasonography was slightly, and cytology definitely, better for the diagnosis of resectable tumours than for the diagnosis of non-resectable tumours. Computerised tomography, angiography, and scintigraphy were not effective means of diagnosing resectable tumours. The differences in diagnostic sensitivities of the tests for resectable and non-resectable disease are probably due to variations in pathological features which influence not only the stage of presentation, but also the detectability of the tumour. As long as investigation is limited to patients with symptoms, a large proportion of tumours will not be diagnosed at a resectable stage. However, the results of this study suggest that the resectability rate may be maximised by the early use of ultrasonography in patients with symptoms suggesting cancer in the region of the head of the pancreas, and in patients with vague, non-specific complaints. A combination of ERCP and direct ductal aspiration for cytology is the best means of diagnosing resectable tumours.

Angiography↗

PubMed1979

The loin-pain/haematuria syndrome.

Nine patients with the loin-pain/haematuria syndrome are described. The previously reported clinical features of severe recurrent loin pain and tenderness in young women, the relationship of symptoms to use of oral contraceptives, and the demonstration of intrarenal vascular abnormalities by angiography are confirmed. Histology revealed minor non-specific abnormalities, and electron microscopy showed fibrin in the afferent arteriole and in glomerular capillaries of one patient only. No diagnostic changes were found on renography. In all patients except one the heparin-thrombin clotting-time was abnormal, suggesting increased platelet activity or release and providing further evidence of a vascular disorder.

Adult↗

PubMed1975

[Morbus Crohn (enteritis regionalis)].

Crohn's disease (regional enteritis) is a chronic non-specific inflammatory intestinal disorder of unknown etiology. Most commonly the terminal ileum in involved, a segmentary involvement of the bowel wall is rather characteristic. Main symptoms are recurrent abdominal pain, fever, diarrhea and weight loss. Radiological and endoscopic examination confirms the diagnosis, granulomas in the biopsy specimen are pathognomonic. In differential diagnosis ulcerative and ischaemic colitis have to be ruled out. Conservative therapy with prednisolone and salazopyrin is the method of choice, however, complications like small bowel obstruction, toxic megacolon and fistulae ask for surgical intervention.

Adult↗

PubMed2026

Editorial: Transdiagnostic approaches to child and adolescent mental health-Integrating development, dimensions, and mechanisms.

Co-occurrence of child and adolescent neurodevelopmental and mental health conditions is the rule rather than the exception, yet translating this insight into shared frameworks and clinical practice remains challenging. In this Editorial, we are pleased to introduce the 26 papers included in the 2026 Special Issue of JCPP Advances. This Special Issue aimed to advance our understanding of transdiagnostic mechanisms, dimensions, and practices in child and adolescent mental health, and includes original articles, reviews, commentaries, and an editorial perspective. Collectively, these articles illustrate three main 'transdiagnostic' conceptualisations; (i) mechanistic approaches identifying shared biological, cognitive, or affective processes across diagnostic boundaries; (ii) dimensional approaches mapping symptom covariance onto hierarchical structures such as the general 'p' factor and internalising, externalising, and neurodevelopmental spectra; and (iii) developmental, clinical-staging approaches treating early, non-specific features as precursors to a broad range of later outcomes. Methodologically, the current Special Issue highlights both the opportunities and limitations of large existing datasets, multi-informant assessment, and neuroimaging and genomic approaches, while underscoring the persistent difficulty of modelling transdiagnostic dimensions developmentally. Importantly, while translation into routine clinical care remains limited, the field is now well positioned to test the clinical utility and effectiveness of transdiagnostic dimensional assessments and interventions in routine care.

editorial↗

PubMed1978

Myotonic myopathy with painful muscle contractions and decrease of symptoms by cold.

Myotonic reaction and paresis accompanied by painful muscle contractions limited to the upper limbs, which decrease remarkably in the cold, were observed in a 29 year old man. The histological investigation revealed minimal non-specific signs of myopathy. The biochemical studies of muscular tissue contained a normal amount of myophosphorylase, acid maltase and glycogen. Ischemic work induced normal elevation of venous lactate. The activities of CPK, LDH and SGOT in the blood serum were occasionally increased. The EMG showed typical myotonic bursts and electrical silence during painful muscle contractions. Repetitive high frequency stimulation demonstrated a clear initial increase of the amplitude of action potentials followed by a decrease in the contracted muscle. The father of the patient suffered from dystrophia myotonica. This coincidnece suggests that this myotonic myopathy is a variant of dystrophia myotonica.

Cold Temperature↗

PubMed1975

[Problems of the clinical diagnosis of myocarditis].

Anamnesis, clinical findings, changes of the ECG, findings of X-ray examinations and biological reactions in 39 patients with myocarditis are discussed. For the diagnosis of myocarditis are discussed. For the diagnosis of myocarditis changes of the ECG, enlargement of the heart, cardiac insufficiency and disturbances of rhythm are of greatest importance. Changes in the ST-T-segment are non-specific. An exact anamnesis and a comparison with previous findings (X-ray serial examination, ECG) may give decisive hints. Biological reactions are often unreliable in making the diagnosis. There are no typical symptoms and findings for the diagnosis of the inflammatory disease of the myocardium. In the individual case the diagnosis of a myocarditis may be a tentative or excluded diagnosis.

Adolescent↗

PubMed1975

[Epidemic of autochthonous hepatic and intestinal amebiasis in a place near Grenoble].

We had the opportunity of studying an epidemic of autochthonous amoebiasis occurring in the autumn of 1974 in a small town of 4000 inhabitants 30 km from Grenoble. Attention was originally attracted by the occurrence in this town of two cases of hepatic amoebiasis and one of intestinal amoebiasis identified by rectoscopy. Systematic investigations (coproctic examinations and serological tests for amoebiasis by indirect antibody fluorescence) were then carried out on everyone in the locality with digestive disorders which were possibly referable to amoebiasis, and on the other members of their families. A total number of 148 coproctic examinations were made and in two cases revealed the presence of vegetative forms of Entamoeba histolytica. In both cases the infestation provoked few symptoms (asthenia, vague abdominal discomfort, intermittent and apparently banal diarrhoea). On the other hand 20 out of 94 serological tests revealed positive results, 14 of which were equal to or greater than a titre of 1/100, a level at which all risks of non-specificity are virtually ruled out under our experimental conditions. Material reasons made it impossible to subject these cases to repeated faecal checks, but in two of them at least the rectoscopic appearances were very suggestive of subacute intestinal amoebiasis. Moreover, amoebic disease appears to be well confirmed by the results obtained among the patients as a whole by treatment with Metroinidazole. A variety of hypotheses on the origin of this epidemic have been put forward and then abandoned (market garden produce, receipt by certain families of exotic frut from overseas). In actual fact water seems to be the point of departure, for, although specimens of water taken at 7 different levels in the water supply system failed to reveal the presence of a single amoeba, bacteriological analyses during autumn 1974 showed signs of faecal contamination. The locality, which is situated at the foot of the Chartreuse massif, receives its water solely from springs but there is a holiday camp for the staff of an international airline situated above the main water catchment.

Dysentery, Amebic↗

PubMed1979

Carditis associated with mycoplasma pneumoniae infection.

Among 560 patients with serologically confirmed Mycoplasma pneumoniae infection, 25 (4.5%) had carditis (19 perimyocarditis, 6 pericarditis). During the acute phase 9 patients required intensive care. After an average of 16 months follow-up 11 patients with no previous signs of heart disease still had cardiac symptoms or signs. Thus carditis associated with M. pneumoniae infection is a serious disease, having cardiac sequelae more often than has hitherto been supposed. The pathogenesis of the carditis associated with M. pneumoniae infection is discussed, including the possibility that in some cases the elevated titre in the complement fixation test is non-specific. A summary is given of the 33 cases previously presented in the literature.

Adolescent↗