GYNAECOLOGY - IVF

About 3% of newborns show malformations, with about 20% of the affected having genetic causes. Clarification of genetic diseases in postnatal diagnostics was significantly improved with high‐throughput sequencing, in particular through whole exome sequencing covering all protein‐coding regions. Here, we aim to extend the use of this technology to prenatal diagnostics. Between 07/2018 and 10/2020, 500 pregnancies with fetal ultrasound abnormalities were analyzed after genetic counseling as part of prenatal diagnostics using WES of the fetus and parents...

Advanced Prenatal Diagnostics: Genetic Causes of Newborn Malformations Unveiled Through Whole Exome Sequencing

CARDIOLOGY

New guidance highlights the need for earlier detection and better management of heart failure during pregnancy and postpartum.

Experts Call for Improved Detection and Management of Perinatal Heart Failure

A new scientific statement highlights major gaps in the recognition and management of heart failure during pregnancy and the postpartum period, a condition that remains poorly defined despite its potentially serious consequences. Because symptoms such as shortness of breath, fatigue, and swelling are common in normal pregnancy, heart failure is often underrecognized, leading to delays in diagnosis and worse maternal outcomes. Experts call for standardized definitions, improved screening tools, and evidence-based diagnostic criteria to enable earlier detection and treatment. The statement also emphasizes the need for greater inclusion of pregnant and postpartum individuals in heart failure research and for strategies that promote maternal health equity.

A new staging system may help predict surgical outcomes and recurrence risk in petroclival meningiomas.

New Classification System Predicts Outcomes in Petroclival Meningioma Surgery

Researchers have proposed a new four-tier classification system for petroclival and temporal bone meningiomas, rare tumors that often mimic vestibular schwannomas but can be more challenging to remove surgically. In a study of 64 patients, higher tumor tiers were significantly associated with less complete tumor removal, higher complication rates, and increased risk of residual or recurrent disease. The staging system categorizes tumors based on their anatomical extent, including involvement of the internal auditory canal, cerebellopontine angle, and major vascular structures. The findings suggest that this framework could help surgeons better predict outcomes and improve preoperative counseling and treatment planning.

NEPHROLOGY

Reduced ROMK channel activity impairs potassium secretion in Gordon syndrome, new research shows.

Reduced ROMK Activity Drives Potassium Imbalance in Gordon Syndrome

New research sheds light on the mechanisms underlying pseudohypoaldosteronism type II (PHAII), or Gordon syndrome, a rare inherited disorder characterized by high blood pressure and elevated potassium levels. Investigators found that impaired potassium secretion in PHAII is primarily driven by reduced activity of renal outer medullary potassium (ROMK) channels, with no compensatory increase in Maxi-K (BK) channel function under normal potassium intake. Importantly, high-potassium diets were still able to stimulate BK channel-mediated potassium secretion in mutant mice, suggesting that this pathway remains intact. The findings improve understanding of electrolyte abnormalities in PHAII and may guide future therapeutic strategies targeting renal potassium handling.

Switching ovarian stimulation protocols may improve follicular synchrony after canceled IVF cycles.

Changing IVF Stimulation Protocols Improves Follicular Synchrony After Canceled Cycles

A new retrospective study suggests that changing the controlled ovarian stimulation (COS) protocol after an IVF cycle is canceled due to follicular asynchrony may improve outcomes in subsequent treatment cycles. Among 95 women studied, those who switched stimulation protocols demonstrated significantly greater improvement in follicular maturation and synchrony compared with those who repeated the same regimen. After adjusting for potential confounders, protocol modification remained the only factor independently associated with better follicular synchronization. The findings support considering a change in stimulation strategy for patients experiencing IVF cycle cancellation because of asynchronous follicular development.

OPHTHALMOLOGY

Dome-shaped macula affects 15% of highly myopic eyes and increases the risk of vision-threatening complications.

Dome-Shaped Macula in High Myopia Linked to Increased Risk of Vision Loss

A large cohort study found that dome-shaped macula (DSM) occurs in approximately 15% of eyes with high myopia and is associated with poorer baseline vision and greater retinal damage. Among patients with DSM, macular neovascularization (MNV) emerged as the most common and vision-threatening complication, affecting more than one-quarter of eyes during follow-up. In contrast, serous retinal detachment (SRD) was relatively uncommon and mainly occurred in eyes with pronounced macular bulging. The findings underscore the importance of long-term monitoring in highly myopic patients with DSM to identify complications early and preserve vision.

PEDIATRICS

Current evidence does not confirm an association between CPAM and laryngotracheal abnormalities.

No Definitive Link Found Between CPAM and Upper Airway Abnormalities

A new scoping review has found insufficient evidence to establish a clear association between congenital pulmonary airway malformations (CPAMs) and abnormalities of the larynx or trachea. Among more than 4,500 screened studies, only six met inclusion criteria, reporting isolated cases of tracheoesophageal fistula, tracheomalacia, and tracheobronchomalacia, often as incidental findings. One prenatal ultrasound study suggested that fetuses with congenital thoracic anomalies, including CPAM, may have smaller upper airway dimensions. However, the overall evidence remains sparse and largely hypothesis-generating. Researchers call for prospective studies using standardized imaging, endoscopy, and molecular analyses to clarify the prevalence and clinical significance of potential upper airway involvement in CPAM.

UROLOGY

MRI-based diagnostics improve prostate cancer detection while reducing unnecessary biopsies in routine practice.

MRI Improves Prostate Cancer Diagnosis and Reduces Unnecessary Biopsies

<p>Prostate Cancer and Prostatic Diseases, Published online: 25 June 2026; <a href="https://www.nature.com/articles/s41391-026-01134-3">doi:10.1038/s41391-026-01134-3</a></p>A nationwide histopathology study reflecting the impact of the introduction of MRI in the diagnostic trajectory of prostate cancer in routine clinical care

Chemical eye burns are more common in children, but thermal burns are linked to more severe vision loss.

Thermal Eye Burns Cause Greater Vision Loss Despite Chemical Burns Being More Common in Children

A retrospective study of pediatric ocular burns found that chemical injuries account for nearly 71% of eye burns in children, with alkali substances being the most common cause. However, the most severe visual impairment was observed in older children and adolescents with thermal burns, particularly those caused by cigarettes. Researchers also noted that early conjunctival irrigation—a critical first-aid measure for chemical burns—was often not documented, even in cases with reduced vision. The findings highlight the importance of prevention strategies, prompt emergency management, and increased awareness of first-aid measures to reduce long-term visual complications in children with ocular burns.

ONCOLOGY

Gut microbial sulfur amino acid metabolism may enhance anti-tumor immunity and reduce colorectal tumor growth.

Gut Microbial Sulfur Metabolism Linked to Stronger Anti-Tumor Immunity in Colon Cancer

New research has identified sulfur amino acid (SAA) metabolism by the gut microbiome as a key pathway that enhances anti-tumor immunity in colorectal cancer. In mouse models, a high-SAA diet reduced advanced tumor formation and overall tumor burden. The protective effect was linked to an increase in Mucispirillum schaedleri, a mucus-associated bacterium whose presence in human colon tissue was inversely associated with tumor development. The findings provide new insights into how diet and the gut microbiome interact to influence colorectal cancer progression and may open avenues for microbiome-targeted therapies and strategies to improve responses to immunotherapy.

ORTHOPAEDICS

Central acetabular osteophytes may indicate hip instability and early osteoarthritis in borderline hip dysplasia.

Central Acetabular Osteophytes Linked to Hip Instability in Borderline Hip Dysplasia

A new study suggests that central acetabular osteophytes (CAOs) may serve as an important radiographic marker of hip instability in patients with borderline developmental dysplasia of the hip (BDDH). Among 157 patients undergoing hip arthroscopy, those with CAOs had significantly higher rates of microinstability, ligamentum teres (LT) tears, and increased femoral and acetabular version abnormalities compared with patients without CAOs. Logistic regression confirmed that microinstability, LT tears, and increased combined anteversion were independently associated with CAOs. The findings indicate that CAOs may identify patients at risk of early osteoarthritis and could aid in the diagnosis and management of unstable hips in BDDH.

Staged excision may provide excellent cosmetic outcomes for large facial congenital melanocytic nevi in children.

Staged Excision Successfully Treats Large Facial Congenital Melanocytic Nevi in Children

A new case report highlights the successful use of staged excision to treat a large congenital melanocytic nevus (LCMN) of the face in a child. The lesion was removed over three carefully planned procedures, allowing gradual tissue adaptation while preserving facial contours and minimizing scarring. The approach avoided the need for tissue expansion and skin grafting, reducing donor-site morbidity and preventing distortion of nearby facial landmarks. Recovery was uneventful, and the final cosmetic outcome was highly satisfactory. The report underscores the importance of individualized surgical planning and staged reconstruction when managing large facial birthmarks in pediatric patients.

GASTROENTEROLOGY

Multimodal monitoring and early ammonia control are crucial for managing hepatic encephalopathy in acute liver failure.

Multimodal Monitoring Key to Managing Hepatic Encephalopathy in Acute Liver Failure

A comprehensive review underscores that hepatic encephalopathy (HE), a life-threatening neurological complication of acute liver failure (ALF), is primarily driven by hyperammonemia, with inflammation and cerebral dysfunction further worsening brain injury. Experts emphasize that no single test can adequately assess neurological involvement. Instead, multimodal neuromonitoring—including neurological examination, ammonia kinetics, cerebral hemodynamics, and neuroimaging—is crucial for early detection and timely intervention. The review advocates evidence-based strategies such as continuous renal replacement therapy, cerebral protection measures, plasma exchange in selected cases, and structured neurocritical care to improve outcomes and guide decisions on advanced liver support and transplantation

RHEUMATOLOGY

The ALARN score accurately predicts long-term mortality risk in patients with antisynthetase syndrome.

ALARN Score Validated as a Simple Predictor of Mortality in Antisynthetase Syndrome

Researchers have developed and validated the ALARN score, a simple prognostic tool to predict all-cause mortality in patients with antisynthetase syndrome (ASyS). Derived from data on 1,194 patients across three Chinese institutions, the score incorporates five readily available factors: age at onset, lactate dehydrogenase, albumin, respiratory failure, and neutrophil-to-lymphocyte ratio. The model demonstrated excellent predictive accuracy for 1-, 3-, 5-, and 10-year mortality and successfully stratified patients into low-, intermediate-, and high-risk groups. The ALARN score offers clinicians a practical tool for risk assessment, prognostication, and personalized patient management.

Baxdrostat significantly lowers blood pressure in resistant hypertension with manageable hyperkalemia risk.

Baxdrostat Significantly Lowers Blood Pressure in Resistant Hypertension

A new systematic review and meta-analysis of three phase 2/3 clinical trials involving 1,285 patients found that baxdrostat, a selective aldosterone synthase inhibitor, significantly lowers blood pressure in patients with resistant and uncontrolled hypertension. The drug achieved a pooled reduction of nearly 9.5 mmHg in seated systolic blood pressure and a 14 mmHg reduction in 24-hour ambulatory systolic blood pressure, with a clear dose-response relationship. Importantly, cortisol levels remained unaffected, demonstrating high selectivity. Although the risk of hyperkalemia increased, it was considered manageable with appropriate monitoring. Long-term cardiovascular outcome studies are needed before baxdrostat can be incorporated into hypertension treatment guidelines.

Study shows eye pain in Graves' orbitopathy affects QoL and significantly improves with IVMP therapy.

Eye Pain in Graves' Orbitopathy Improves with IVMP and Predicts Better Quality of Life

Abstract

Purpose
Pain is included in the clinical activity score (CAS) as an indicator of inflammatory activity in Graves' orbitopathy (GO), yet its clinical relevance has not been systematically evaluated. We therefore investigated the relationship between pain, other inflammatory signs and quality of life (QoL), and assessed the effect of intravenous methylprednisolone (IVMP) treatment on pain perception in GO.


Methods
In this prospective study, 40 patients with GO were assessed pre‐treatment and 12 and 24 weeks after initiation of IVMP treatment. Pain was measured using numeric rating scale (NRS) scores for spontaneous retrobulbar pain, pain on eye movements and pain on touching the eye. QoL was evaluated using the TED‐QOL and GO‐QOL questionnaires.


Results
Pre‐treatment NRS scores correlated with their corresponding CAS pain items, but not with the total 5‐item CAS. Pre‐treatment QoL correlated with spontaneous retrobulbar pain and pain on eye movements. In multivariate analysis, clinically meaningful improvement in pain on eye movements at 12 weeks independently predicted improvement in TED‐QOL and GO‐QOL appearance. At 24 weeks, improvement in pain on touching the eye independently predicted improvement in TED‐QOL function. IVMP significantly reduced NRS pain scores at both follow‐up visits. At 12 weeks, changes in total 5‐item CAS correlated with changes in pain on eye movements and pain on touching the eye.


Conclusions
Pain perception in GO is closely associated with QoL, both pre‐treatment and in response to IVMP. Pain represents a clinically relevant, treatment‐responsive component of GO, supporting the inclusion of pain items within the CAS.

Trio exome sequencing is ...

Trio exome sequencing is highly relevant in prenatal diagnostics