thoracoscopic primary repair for spontaneous esophageal rupture in a patient with acute irreducible inguinal hernia a case report

Original title: “Thoracoscopic Primary Repair for Spontaneous Esophageal Rupture in a Patient With Acute Irreducible Inguinal Hernia: A Case Report.”

lamotrigine and other therapy associated hlh syndromes a review

Original title: “Lamotrigine and other therapy-associated HLH syndromes: a review.”

population specific genomic reference panel for taiwan nhri rp 1

Original title: “A population-specific genomic reference panel for Taiwan: NHRI-RP-1.”

self reported hepatitis b diagnoses and vaccination history in trans and non binary communities in germany the tasg study 2022

Original title: “Self-reported hepatitis B diagnoses and vaccination history in trans and non-binary communities in Germany, the TASG-study* 2022.”

stevens johnson syndrome and toxic epidermal necrolysis a five year experience at a tertiary referral hospital in somalia

Original title: “Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis: A Five-Year Experience at a Tertiary Referral Hospital in Somalia.”

effectiveness and safety of spesolimab in adolescents and adults with generalized pustular psoriasis

Original title: “Effectiveness and Safety of Spesolimab in Adolescents and Adults with Generalized Pustular Psoriasis.”

oral food challenge unmasks porto systemic shunting a case report of a novel provocation test for congenital porto systemic shunts

Original title: “Oral food challenge unmasks porto-systemic shunting: a case report of a novel provocation test for congenital porto-systemic shunts.”

computed tomography derived body composition parameters as potential predictors of severity and adverse outcomes in viral pneumonia a retrospective study

Original title: “Computed tomography-derived body composition parameters as potential predictors of severity and adverse outcomes in viral pneumonia: a retrospective study.”

survival benefit of chemoradiotherapy in limited stage mantle cell lymphoma a national cancer database analysis

Original title: “Survival benefit of chemoradiotherapy in limited-stage mantle cell lymphoma: a National Cancer Database analysis.”

autopsy confirmed giant pleural hematoma due to spontaneous hemothorax in alk rearranged and tp53 mutant lung adenocarcinoma a case report

Original title: “Autopsy-Confirmed Giant Pleural Hematoma Due to Spontaneous Hemothorax in ALK-Rearranged and TP53-Mutant Lung Adenocarcinoma: A Case Report.”

case report of a rare retroperitoneal sarcoma in an adolescent

Original title: “A case report of a rare retroperitoneal sarcoma in an adolescent.”

incidental mass found on screening colonoscopy

Original title: “Incidental mass found on screening colonoscopy.”

Genetic testing is helping doctors identify rare diseases earlier, opening the door to treatment options before symptoms appear. The girl was part of the Genomic Uniform-screening Against Rare Diseases In All Newborns, or GUARDIAN, Study -- a large-scale research initiative launched in the state of New York out of Columbia University with funding from Sanofi, Illumina and GeneDx. Lead by clinical and molecular geneticist Dr. Eliza Goldwasser, Founder of AUTS2 Research Collaborative, Rare Disease Parent · Eliza Goldwasser with her husband and son, who was diagnosed with AUTS2 syndrome. ... When our son was diagnosed with AUTS2 syndrome, we thought we'd reached the end of a long search for answers. Instead, we found ourselves at the beginning of an entirely new journey. We discovered a community of families, clinicians, and researchers already dedicated to understanding AUTS2 syndrome. CAMP4 advances rare disease treatment for SYNGAP1 into human trials I have personally witnessed the impact of genetic testing in several situations: to identify the cause of a suspected genetic disorder of an individual in the clinic; to use this tool in severely ill infants, children, and adolescents in the intensive care setting; and, increasingly, through newborn screening of all babies to identify conditions that require urgent identification and treatment before they even show signs of the disease.

Original title: “The power of genetic testing: new screening methods are catching rare diseases before symptoms start”

The shift from ex vivo to in vivo gene delivery is rewriting the rules of viral vector manufacturing, forcing developers to rethink scale, purity, cell lines and analytics as vectors themselves become the drug. AGC Biologics is betting on stable producer lines, next‑gen purification and deeper characterization to meet the far stricter demands of in vivo therapies.

Original title: “From ex vivo to in vivo: Shaping the next generation of viral vector manufacturing”

autologous adipose derived mesenchymal stromal cell injection for knee osteoarthritis improves pain and function without a clear increase in adverse events a systematic review and meta analysis of randomized controlled trials

Original title: “Autologous adipose-derived mesenchymal stromal cell injection for knee osteoarthritis improves pain and function without a clear increase in adverse events: A systematic review and meta-analysis of randomized controlled trials.”

cocorv nf a powerful and cost effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma

Original title: “CoCoRV-nf: a powerful and cost-effective tool for rare variant analysis leveraging external biobank sequence data identified new candidate predisposition genes in amyotrophic lateral sclerosis and neuroblastoma.”