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mechanistic insights into claudin 14 dysfunction implicated in veins of galen malformation
Original title: “Mechanistic insights into Claudin-14 dysfunction implicated in veins of Galen malformation.”
lung ultrasound in children with cystic fibrosis a descriptive clinical study
Original title: “LUNG ULTRASOUND IN CHILDREN WITH CYSTIC FIBROSIS: A DESCRIPTIVE CLINICAL STUDY.”
efficacy and safety of sglt2 inhibitors in patients with genetic lipodystrophy a real life experience from a national reference network
Original title: “Efficacy and Safety of SGLT2 Inhibitors in Patients With Genetic Lipodystrophy: A Real-Life Experience From a National Reference Network.”
neurologic complications of vaccine preventable diseases in children
Original title: “Neurologic complications of vaccine-preventable diseases in children.”
retained tunneled dialysis catheter presenting with complete exit site healing a case report
Original title: “Retained tunneled dialysis catheter presenting with complete exit site healing: A case report.”
congenital pulmonary airway malformation type 1 with kras mutation a case report and literature review
Original title: “Congenital Pulmonary Airway Malformation Type 1 With KRAS Mutation: A Case Report and Literature Review.”
congenital tuberculosis in a 2 week old neonate with an asymptomatic mother
Original title: “Congenital Tuberculosis in a 2-Week-Old Neonate With an Asymptomatic Mother.”
sitosterolemia evolving strategies for earlier diagnosis
Original title: “Sitosterolemia: evolving strategies for earlier diagnosis.”
multiplex msms measurement of lysosomal enzymes enables incidental diagnosis of acid sphingomyelinase deficiency in patients evaluated for gaucher disease
Original title: “Multiplex MSMS measurement of lysosomal enzymes enables incidental diagnosis of acid sphingomyelinase deficiency in patients evaluated for Gaucher disease.”
chylothorax following endoscopic ultrasound guided fine needle aspiration a rare complication and its anatomical risk factors
Original title: “Chylothorax Following Endoscopic Ultrasound-Guided Fine-Needle Aspiration: A Rare Complication and Its Anatomical Risk Factors.”
beta ketothiolase deficiency two novel acat1 variants and a retrospective study of 76 cases in china
Original title: “Beta-ketothiolase deficiency: two novel ACAT1 variants and a retrospective study of 76 cases in China.”
tympanic papillary adenoma tympanic papilloma in a cat a case report
Original title: “Tympanic papillary adenoma (tympanic papilloma) in a cat - a case report.”
Nome uses AI and drug-development expertise to help rare disease families turn genetic diagnoses into potential paths toward treatment. Of the roughly 5,000 cases Nome has looked at to date, Ringel said the company has identified a programmable medicine or an existing custom medical therapy that fits the known mutation about 25% of the time. Nome makes money when customers hire them to help design clinical trials for those treatment options, or to act as a project manager to usher the drug to a point where it can be built and delivered to the patients that need them. Nome is building an AI-powered drug development service for ultra-rare disease patients, helping families identify potential treatments and map out a path from diagnosis to clinical development. The group turned to Nome for help, a startup trying to position itself as a contract research organization, or CRO, dedicated to serving smaller rare disease groups that the pharma industry does not often cater too. "We act with patient-level urgency and are highly focused on providing a roadmap forward for an underserved part of the market," said Stevie Ringel, Nome's founder and CEO. In the case of DAND Alliance, Nome provided the group with a 53-page report detailing next steps and outlining everything from animal studies to trial design. Nome uses an AI platform that it built — one that it says is more accurate than readily available consumer models — to search for potential treatment options. Nome then provides a free detailed report on the findings. Ringel sees Nome as providing insight after a diagnostic test. He wants to work in tandem with clinicians and genetic counselors — identifying pathways toward a treatment shortly after a genetic disorder is identified.
Original title: “The startup using AI to help rare disease families develop custom treatments”
rigosertib reverses hypertrophic cardiomyopathy in noonan syndrome
Original title: “Rigosertib Reverses Hypertrophic Cardiomyopathy in Noonan Syndrome.”
under the mask of crohn s disease a clinical case report
Original title: “[Under the mask of Crohn's disease. A clinical case report].”
anaphylaxis to duck and goose eggs with preserved tolerance to hen s eggs a case report
Original title: “Anaphylaxis to duck and goose eggs with preserved tolerance to hen's eggs: A case report.”