natural history of mycoplasma genitalium at the pharynx and rectum in a cohort of men who have sex with men prevalence incidence duration and symptomatology

Original title: “The Natural History of Mycoplasma genitalium at the Pharynx and Rectum in a Cohort of Men who have Sex with Men: Prevalence, Incidence, Duration and Symptomatology.”

controversial issues in clinical investigation of rare disease drug development

Original title: “Controversial issues in clinical investigation of rare disease drug development.”

efficacy and safety of nanoliposomal irinotecan plus 5 fluorouracil and l leucovorin in rare histological subtypes of pancreatic cancer

Original title: “Efficacy and safety of nanoliposomal irinotecan plus 5-fluorouracil and l-leucovorin in rare histological subtypes of pancreatic cancer.”

cbago enriched cas12a biosensor for cancer mutations screening

Original title: “CbAgo-enriched Cas12a biosensor for cancer mutations screening.”

r203w substitution drives pacs 1 syndrome by disrupting intramolecular regulation

Original title: “The R203W substitution drives PACS-1 syndrome by disrupting intramolecular regulation.”

no host too tough new records of plasmodium huffi in competent avian hosts including brazilian vultures and falcons

Original title: “No host too tough: New records of Plasmodium huffi in competent avian hosts, including Brazilian vultures and falcons.”

novel cyp17a1 variants and functional validation in a large chinese cohort of complete 17 hydroxylase deficiency

Original title: “Novel CYP17A1 variants and functional validation in a large Chinese cohort of complete 17α-hydroxylase deficiency.”

cryopreservation of red blood cells from sickle cell disease patients for comparison of oxygen gradient ektacytometry parameters between laboratories to enable data harmonization

Original title: “Cryopreservation of Red Blood Cells From Sickle Cell Disease Patients for Comparison of Oxygen Gradient Ektacytometry Parameters Between Laboratories to Enable Data Harmonization.”

air embolism as a complication following ct guided lung biopsy a case report and literature review

Original title: “Air embolism as a complication following CT-guided lung biopsy: A case report and literature review.”

genetic counselling implementation in dilated cardiomyopathy

Original title: “Genetic counselling implementation in dilated cardiomyopathy.”

elective percutaneous stellate ganglion block for prediction of the clinical outcome of robotic bilateral cardiac sympathetic denervation in a patient with andersen tawil syndrome a case report

Original title: “Elective percutaneous stellate ganglion block for prediction of the clinical outcome of robotic bilateral cardiac sympathetic denervation in a patient with Andersen-Tawil syndrome: A case report.”

tuberculosis in rheumatic and musculoskeletal diseases an epidemiological overview

Original title: “Tuberculosis in rheumatic and musculoskeletal diseases: An epidemiological overview.”

Companies like Prime Medicine and Aurora Therapeutics are shooting their shot. Biotech Prime Medicine said in a March 3 press release it would apply for accelerated approval for its individualized gene-editing therapy for chronic granulomatous disease, an ultra-rare genetic immune disorder affecting about 1 in 200,000 people. “Prime Medicine believes the FDA’s plausible mechanism pathway has the potential to meaningfully expand patient access to therapies for rare genetic diseases,” he said. A new company, Aurora Therapeutics, officially launched on Jan. 9 with plans to create personalized CRISPR-based therapies for rare metabolic disorder phenylketonuria, which affects 1 in 15,000 US babies. Last year saw the creation and success of the first-ever personalized CRISPR gene-editing therapy. This year, the FDA wants to make it easier to create and market treatments like this for ultra-rare diseases. Experts told Healthcare Brew the traditional approval pathway wasn’t built for drugs that treat ultra-rare diseases, which affect so few patients—fewer than 1 in 50,000, according to some researchers’ definitions—and that a large clinical trial sometimes doesn’t make practical or financial sense. These FDA moves could inspire more innovation in the pharmaceutical industry, they say, particularly the struggling gene therapy market that has seen less investor interest over the last few years compared to trendier drugs like GLP-1s.

Original title: “Could relaxed regulations boost gene therapy for ultra-rare diseases?”

thigh compartment syndrome following physician modified fenestrated endograft aneurysm repair

Original title: “Thigh Compartment Syndrome Following Physician-Modified Fenestrated Endograft Aneurysm Repair.”

comprehensive evidence for the pathogenicity of the brca2 c 7847c t p ser2616phe variant specific to the japanese population

Original title: “Comprehensive evidence for the pathogenicity of the BRCA2 c.7847C>T (p.Ser2616Phe) variant specific to the Japanese population.”