Rare Genetic Disorders in Children: What Raises Suspicion?

Published Date: 18 Jun 2026

Experts outline the clinical features that may signal rare genetic disorders, helping pediatricians identify affected children, and accelerate specialist referrals.

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Todays Updates

UK Lawmakers Reject Bid to Legalise Assisted Dying

British lawmakers rejected on Friday a proposal to legalise assisted dying for terminally ill people, dealing a major setback to campaigners and bringing the latest effort...

Liberalized Cannabis Policies May Increase Substance Use

In a global review, legalization was associated with increased cannabis use and related emergency department visits, with potential decreases in the use of alcohol and tobacco.

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Researchers analyzed plasma samples collected from 313 patients with early breast cancer approximately 2 years after they had completed adjuvant chemotherapy.

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In patients with first- or second-line Philadelphia-positive B-cell acute lymphoblastic leukemia, favorable outcomes are observed with discontinuation of ponatinib.

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Latest News

MRI performed during therapeutic hypothermia accurately identifies the pattern and severity of brain injury in newborns with hypoxic-ischemic encephalopathy.

Experts say witness accounts, ECG findings, and simple risk scores can help clinicians distinguish syncope from a mechanical fall.

Evommune said on Tuesday it will not advance its experimental skin disease ⁠drug after it failed to meet the main goal in a mid-stage trial, ⁠sending its shares down 24% in...

In patients with immunoglobulin A nephropathy treated according to current standards of care, sparsentan use is linked to a rapid and sustained reduction in proteinuria, a real-world study finds.

Medical anecdotes show how wit, empathy, and communication can shape clinical encounters, offering a glimpse into human experiences that unfold beyond diagnosis and treatment.

Pharmacogenetic testing can inform medication choice and adverse effect risk, while questions remain about implementation, data storage, and access in routine care.

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Urine Culture Can Speed Urosepsis Pathogen Detection

In suspected urosepsis, urine culture matched the pathogen found in blood culture in 54.6% of episodes while delivering results faster, potentially enabling earlier targeted antimicrobial therapy.

MRSA Prevention Program Cuts Hospital-Onset Bacteremia

An educational quality improvement program significantly reduces hospital-onset methicillin-resistant Staphylococcus aureus bacteremia events across all the participating hospital units.

Ex-Health Minister: Time to Rebuild Mental Healthcare

Mental health campaigner Sir Norman Lamb sets out the four questions he thinks the NHS must answer to fix mental healthcare.

We Might Have Been Wrong About How the Immune System Ages

A rare immune cell linked to cancer resistance increases in the very old, suggesting the immune system actively adapts to extreme longevity.

SMC Backs Gene Therapy for Metachromatic Leukodystrophy

In children with metachromatic leukodystrophy, early gene therapy preserved motor function and survival in long-term follow-up.

Pharvaris' Genetic Disorder Drug Meets Main Goal in Late-stage Trial

Pharvaris said on Tuesday its experimental oral drug helped prevent swelling attacks in patients with hereditary angioedema, meeting ⁠the main goal of a late-stage...

Inhibrx's Combination Cancer Drug Shrinks Tumors in Mid-stage Head and Neck Cancer Study

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Tirzepatide-Associated Ketoacidosis in One Woman

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Chronic Eosinophilic Pneumonia in Man With Persistent Cough

A man with chronic cough and migratory pulmonary infiltrates is diagnosed with chronic eosinophilic pneumonia after infection, tuberculosis, and other mimics are excluded.

1 in 5 Patients With Bacteremia Have Skin Involvement

Skin involvement is common in neutropenic patients with a Pseudomonas aeruginosa bloodstream infection, a study suggests.

Cancer Risk Low, Similar Across IBD Advanced Therapy Classes

Patients with IBD face similar risk for cancer whether treated with TNF antagonists, vedolizumab, anti-interleukins, or JAK inhibitors, with overall incidence remaining low across all therapy classes.

MMR Deficiency Tied to Better Survival in Gastric Cancer

Patients with mismatch repair-deficient oesophagogastric adenocarcinoma treated with perioperative chemotherapy show significantly improved survival outcomes.

e-Cigarettes May Increase Risk for RA or SLE

Current e-cigarette users face a higher risk of developing incident rheumatoid arthritis or systemic lupus erythematosus than nonusers, a study finds.

How an Old Antibiotic Can Kill a Drug-Resistant Superbug

Researchers using "click chemistry" disabled a superbug's defenses against a classic antibiotic, potentially finding a way to solve antibiotic-resistant bacteria.

5 Things Doctors Should Know About Medical AI Regulation

Federal and state regulators are drawing new boundaries around medical AI, from how the tools are vetted to who bears responsibility when they fail.

Salmonella Cases Top 500 in Outbreak Linked to Imported Eggs

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