extrauterine mesonephric like carcinoma a tumor with a cold lymphocytic immune microenvironment

Original title: “Extrauterine mesonephric-like carcinoma: a tumor with a cold lymphocytic immune microenvironment.”

atezolizumab for relapsed refractory extranodal nk t cell lymphoma the phase ii ncch1903 attack trial

Original title: “Atezolizumab for relapsed/refractory extranodal NK/T-cell lymphoma: the phase II NCCH1903/ATTACK trial.”

single port robotic resection of gliomatosis peritonei following immature ovarian teratoma in an adolescent a case report

Original title: “Single-port robotic resection of gliomatosis peritonei following immature ovarian teratoma in an adolescent: A case report.”

histopathological changes in primary extramammary paget disease with emphasis on syringomatous structures and syringocystadenocarcinoma papilliferum in situ like changes

Original title: “Histopathological changes in primary extramammary Paget disease with emphasis on syringomatous structures and syringocystadenocarcinoma papilliferum in situ-like changes.”

molecular dynamics simulations of 4 galc variants causing krabbe disease

Original title: “Molecular Dynamics Simulations of 4 GALC Variants Causing Krabbe Disease.”

lupus enteritis with concomitant genitourinary involvement as the initial presentation of juvenile onset systemic lupus erythematosus

Original title: “Lupus Enteritis With Concomitant Genitourinary Involvement as the Initial Presentation of Juvenile-Onset Systemic Lupus Erythematosus.”

reply to the letter by rani kassir et al

Original title: “Reply to the Letter by Rani Kassir et al.”

The parents of Jorie Kraus told the audience at STAT's Breakthrough Summit West about how AI helped their daughter who was born with a rare disease. The parents of Jorie Kraus, now nearly 3 years old, told the audience at STAT's Breakthrough Summit about how AI helped find a treatment for their daughter. A program at Mayo Clinic discovered that Jorie was born with an ultra rare condition caused by a deletion of genes connected to chromosome 10, causing her to suffer a constellation of neurodevelopmental and motor symptoms. Artificial intelligence, rare diseases, STAT, STAT Summit Whitney Thompson, the physician who identified Jorie’s treatment with her Mayo colleague Laura Lambert, said multiple barriers stand in the way of bringing such rapid and effective treatment to other children with rare and undiagnosed conditions. One is the lack of widespread availability of genomic sequencing.

Original title: “How AI helped find a treatment for a newborn with an ultra rare disease | STAT”

While early, the findings suggest the therapy could be superior to Novartis’ Vijoice at treating “vascular anomalies,” a cluster of chronic conditions with few available treatments.

Original title: “Relay drug shows early promise against rare blood vessel diseases”

nationwide screening identifies an expanded clinical spectrum of anti klhl11 antibody associated neurologic disease in japan

Original title: “Nationwide screening identifies an expanded clinical spectrum of anti-KLHL11 antibody-associated neurologic disease in Japan.”

toxicokinetics under extracorporeal clearance and temporal dissociation of hepatotoxicity and coagulopathy in acdmb poisoning two index cases

Original title: “Toxicokinetics under extracorporeal clearance and temporal dissociation of hepatotoxicity and coagulopathy in ACDMB poisoning: Two index cases.”

centroparietal periodic sharp wave discharges and biphasic complexes novel eeg biomarkers for early diagnosis of rasmussen encephalitis

Original title: “Centroparietal periodic sharp-wave discharges and biphasic complexes: Novel EEG biomarkers for early diagnosis of Rasmussen encephalitis.”

genomic surveillance reveals clusters of plasmodium falciparum antimalarial resistance markers in eswatini a low transmission setting

Original title: “Genomic Surveillance Reveals Clusters of Plasmodium falciparum Antimalarial Resistance Markers in Eswatini, A Low-Transmission Setting.”

concordant epigenetic and discordant clinical php1b ippsd3 manifestations in two monozygotic adolescent twins

Original title: “Concordant epigenetic and discordant clinical PHP1B/iPPSD3 manifestations in two monozygotic adolescent twins.”

extranodal male genital involvement with diffuse large b cell lymphoma

Original title: “Extranodal Male Genital Involvement With Diffuse Large B-Cell Lymphoma.”

nickel allergy in cardiothoracic surgery a case report

Original title: “Nickel Allergy in Cardiothoracic Surgery: A Case Report.”

rare brca1 c 3418 3419instgactact p s1140mfs 18 germline mutation in a family with breast and ovarian cancer

Original title: “Rare BRCA1 c.3418_3419insTGACTACT:p.S1140Mfs*18 germline mutation in a family with breast and ovarian cancer.”

durable complete remission of pulmonary metastases with bevacizumab plus olaparib maintenance therapy in homologous recombination deficient gynecologic large cell neuroendocrine carcinoma a case report

Original title: “Durable complete remission of pulmonary metastases with bevacizumab plus olaparib maintenance therapy in homologous recombination-deficient gynecologic large-cell neuroendocrine carcinoma: A case report.”

talaromyces marneffei infection of central nervous system in an immunocompetent child in a nonendemic area a case report and literature review

Original title: “Talaromyces marneffei infection of central nervous system in an immunocompetent child in a nonendemic area: a case report and literature review.”