You are currently viewing a new version of our website. To view the old version click .

Diagnostics

Diagnostics is an international, peer-reviewed, open access journal on medical diagnosis published semimonthly online by MDPI.
The British Neuro-Oncology Society (BNOS), the International Society for Infectious Diseases in Obstetrics and Gynaecology (ISIDOG) and the Swiss Union of Laboratory Medicine (SULM) are affiliated with Diagnostics and their members receive a discount on the article processing charges.
Indexed in PubMed | Quartile Ranking JCR - Q1 (Medicine, General and Internal)

All Articles (17,276)

  • Interesting Images
  • Open Access

Ocular Involvement in a Pediatric Patient with Geleophysic Dysplasia

  • Bogumiła Wójcik-Niklewska,
  • Zofia Oliwa and
  • Paulina Sawuła
  • + 1 author

Geleophysic dysplasia (GD) is a rare genetic skeletal disorder belonging to the acromelic group, characterized by short stature, distinctive facial features, thickened skin, and progressive cardiac involvement. We report a case of a 3-year-old boy with GD caused by a heterozygous c.5198G>A variant in the FBN1 gene, presenting with ocular abnormalities. The patient demonstrated coarse facial features, short hands and feet, and a history of mitral valve stenosis requiring mechanical valve replacement. He was referred to the ophthalmology department for evaluation of left eye strabismus and elevated intraocular pressure. Fundus examination revealed a pink optic disc with blurred margins, slightly elevated above the retinal plane, absent foveal reflex, and tortuous vessels, consistent with optic disc drusen on ocular ultrasonography. Photopic negative response (PhNR) testing showed markedly reduced amplitudes in both eyes, indicating retinal ganglion cell dysfunction. Pattern VEP revealed normal P100 latencies in both eyes, with a 30% reduction in amplitude in the left eye, likely related to poorer fixation. This case highlights optic disc drusen and retinal ganglion cell dysfunction as potential ocular manifestations of geleophysic dysplasia, emphasizing the need for comprehensive ophthalmologic evaluation in affected patients.

7 January 2026

A 3-year-old boy was admitted to the pediatric ophthalmology department for diagnostic evaluation. The patient has a confirmed diagnosis of geleophysic dysplasia. He was born from the first pregnancy and first delivery at 40 weeks of gestation via spontaneous vaginal delivery, with a birth weight of 3640 g, length of 50 cm, head circumference of 34 cm, and Apgar score of 10. No congenital malformations were noted at birth; however, positional asymmetry was observed, and physiotherapy was initiated. At 5 months of age, failure to thrive and poor linear growth were noted. Despite nutritional interventions under gastroenterological supervision, growth parameters remained below normal. Abdominal ultrasound revealed hepatomegaly, and echocardiography demonstrated mitral valve stenosis, which required mechanical valve implantation. Physical examination showed coarse facial features, reversed epicanthal folds, broad nasal bridge, mild brachydactyly, short and broad hands, and broad feet. Mucopolysaccharidosis was excluded. Genetic testing revealed a heterozygous c.5198G>A variant in the FBN1 gene, not present in either parent. Based on the clinical presentation and genetic findings, geleophysic dysplasia was diagnosed. Initial ophthalmologic examination showed hyperopia of +5.0 D and astigmatism. The patient was referred from the emergency department to the ophthalmology ward for further evaluation due to elevated intraocular pressure (IOP) in the left eye, blurred optic disc margins, and left convergent strabismus. Under general anesthesia, detailed ophthalmologic assessment was performed. IOP measured 19 mmHg in the right eye and 22 mmHg in the left eye. Although the IOP in the left eye was slightly above the upper pediatric reference range, it did not meet diagnostic criteria for ocular hypertension or glaucoma, as no structural or functional glaucomatous changes were present. Refractometry demonstrated hyperopia of +3.75 D in the right eye and +5.75 D in the left eye with significant astigmatism in both eyes. Fundus examination of the left eye revealed a pink optic disc with blurred margins, slightly elevated above the retinal plane, absent foveal reflex, and tortuous vessels. The arrow indicates the blurred optic disc margin.

Background/Objectives: While previous studies have evaluated AI algorithms for cervical spine fracture (CSFx) detection on CT, many have lacked validation on diverse, multinational datasets or have focused primarily on overall case-level classification This study aimed to evaluate the performance of an AI application for acute CSFx detection in case-level classification, fracture localization, and spinal level labeling on multicenter, multinational, and multivendor CT data. Methods: Non-enhanced CTs were retrospectively collected from a U.S. teleradiology company, a French teleradiology company, and a U.S. university hospital. Four radiologists independently labeled the presence and location (including the spinal level) of acute CSFx to establish the reference standard. Per-case diagnostic performance, per-bounding box positive predictive value (PPV) for localization, and overall agreement of cervical vertebral level labeling of the AI were assessed. Results: A total of 155 patients (60.6 years ± 21.2 years, 104 men) with acute CSFx and 173 patients (51.9 years ± 22.7 years, 91 men) without acute CSFx were evaluated. Data were acquired using scanners from five manufacturers. For acute CSFx diagnosis, the AI achieved a per-case sensitivity of 90.3%, a specificity of 91.9%, an accuracy of 91.2%, an area under the receiver operating characteristic curve (AUC) of 0.91, and Matthews correlation coefficient of 0.82. Among 192 bounding boxes representing acute CSFx generated for 154 positive cases by the AI, 162 were true positives (per-bounding box PPV, 84.4%). Of the 186 bounding boxes for which the AI displayed cervical spinal level, 181 were labeled correctly (overall agreement, 97.3%). Conclusions: The AI application for detecting acute CSFx demonstrated high diagnostic performance on multicenter, multinational, and multivendor data, with high performance in fracture localization and spinal level labeling.

7 January 2026

The hospital-at-home (HaH) model delivers hospital-level care to patients in their homes, with point-of-care ultrasonography (PoCUS) serving as a cornerstone diagnostic tool for respiratory illnesses such as pneumonia. This review—the third in a series—addresses the prognostic, synchronous, and potential overdiagnostic concerns of lung ultrasound (LUS) in managing pneumonia within HaH settings. LUS offers advantages of safety and repeatability, allowing clinicians to identify “red flag” sonographic findings that signal complicated or severe disease, including pleural line abnormalities, fluid bronchograms, absent Doppler perfusion, or poor diaphragmatic motion. Serial LUS examinations correlate closely with clinical recovery, showing progressive resolution of consolidations, B-lines, and pleural effusions, and thus provide a non-invasive method for monitoring therapeutic response. Compared with chest radiography, LUS demonstrates superior sensitivity in detecting pneumonia, pleural effusion, and interstitial syndromes across pediatric and adult populations. However, specificity may decline in tuberculosis-endemic or obese populations due to technical limitations and overlapping imaging patterns. Overdiagnosis remains a concern, as highly sensitive ultrasonography may identify minor or clinically irrelevant lesions, potentially leading to overtreatment. To mitigate this, PoCUS should be applied in parallel with conventional diagnostics and integrated into comprehensive clinical assessment. Standardized training, multi-zone scanning protocols, and structured image acquisition are recommended to improve reproducibility and inter-operator consistency.

7 January 2026

  • Perspective
  • Open Access

For decades, cervical insufficiency (CI) has been framed predominantly as a mechanical failure of the cervix resulting in painless mid-trimester dilatation. This disease-centered paradigm, reinforced by clinical teaching and administrative coding, does not fully capture the dynamic and biologically integrated nature of cervical remodeling. Accumulating evidence suggests that cervical change is governed by coordinated mechanical, inflammatory, and immunologic interactions rather than by a purely anatomic defect. To outline a process-oriented conceptual framework that situates CI within the broader preterm-birth continuum, this perspective aims to integrate biomechanical, inflammatory, and immunologic dimensions of cervical remodeling and to emphasize that infection- and inflammation-related changes represent dynamic, potentially modifiable elements that may inform more individualized, biology-guided clinical decision-making. This Perspective traces the evolution from a traditional “disease entity” interpretation of CI toward a more integrated view of cervical remodeling as a dynamic, biology-responsive process. Emerging data suggest that when intra-amniotic infection or inflammation is appropriately managed, cervical competence may be partially restored, and mechanical support can be applied more safely in selected patients. Clinical observations indicate that infection-controlled cerclage is associated with meaningful prolongation of gestation. Earlier reports describing double-level mechanical reinforcement techniques conceptually align with contemporary interpretations of infection-controlled emergent cerclage by linking surgical timing with the underlying biology of cervical change. Rather than proposing a prescriptive management pathway, this framework highlights how mechanical, inflammatory, and immunologic factors may interact across heterogeneous CI etiologies and how individualized intervention may be guided by biologic context. Understanding CI as a dynamic rather than a fixed condition provides a framework that integrates its mechanical, inflammatory, and immunologic dimensions within the preterm birth continuum. Such a perspective encourages individualized, biology-informed interpretation of cervical change and supports more context-specific use of established interventions such as cerclage. By emphasizing developmental processes rather than a static defect, this approach seeks to bridge classical clinical practice with contemporary insights into cervical remodeling.

7 January 2026

News & Conferences

Issues

Open for Submission

Editor's Choice

Get Alerted

Add your email address to receive forthcoming issues of this journal.

XFacebookLinkedIn
Diagnostics - ISSN 2075-4418