This case concerns a boy presenting with oral pain and multiple mucocutaneous lesions such as mucositis, conjunctivitis, and a rash on the trunk, extremities, and genitalia. The presence of mild respiratory complaints raised suspicion of an extrapulmonary manifestation of , known as -induced Rash and Mucositis (MIRM). The patient underwent conservative treatment and was monitored to prevent chronic sequels such as ocular damage or sicca keratoconjunctivits.
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Ned Tijdschr Geneeskd
January 2025
Maasstad Ziekenhuis, afd. Kindergeneeskunde, Rotterdam.
This case concerns a boy presenting with oral pain and multiple mucocutaneous lesions such as mucositis, conjunctivitis, and a rash on the trunk, extremities, and genitalia. The presence of mild respiratory complaints raised suspicion of an extrapulmonary manifestation of , known as -induced Rash and Mucositis (MIRM). The patient underwent conservative treatment and was monitored to prevent chronic sequels such as ocular damage or sicca keratoconjunctivits.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Evolutionary Anthropology, University of Vienna, Djerassiplatz 1, A-1030, Vienna, Austria.
During excavations in 1929, a well-preserved skeleton was discovered in a sarcophagus in the Octagon at Ephesos (Turkey). For the following century, archaeologists have speculated about the identity of this obviously notable person. Repeated claim is that the remains could represent Arsinoë IV, daughter of Ptolemy XII, and younger (half-)sister of Cleopatra VII.
View Article and Find Full Text PDFJ Med Case Rep
January 2025
Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, Nagoya University Hospital, 65 Tsurumai, Showa, Nagoya, Aichi, 466-8550, Japan.
Background: The Compress is designed to achieve bone formation and stability by applying pressure at the bone-implant interface, minimizing the likelihood of aseptic loosening, which is a complication of stem implants. Herein, we report two cases of implant failure using the Compress.
Case Presentation: Case 1 describes a 36 year-old Japanese man who underwent extraarticular tumor resection, Compress arthroplasty, and reconstruction with a gastrocnemius flap after preoperative chemotherapy for a secondary malignant giant cell tumor in the right distal femur.
Clin Genet
January 2025
Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan.
Heterozygous pathogenic variants in MBD5 (MIM*611472) and CCM2 (MIM*607929) cause autosomal dominant intellectual developmental disorder 1 (MIM#156200) and cerebral cavernous malformations-2 (MIM#603284), respectively. Both conditions may present with seizures, epilepsy, and status epilepticus. However, super-refractory status epilepticus, defined as seizures lasting more than 24 h, has not been described in either condition.
View Article and Find Full Text PDFIn Vivo
December 2024
Rheumatology/Immunology and Allergy, Department of Internal Medicine, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan, R.O.C.;
Background/aim: Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis, though rare, is the most common form of autoimmune encephalitis, predominantly affecting young individuals, particularly females. Standard treatments include corticosteroids, intravenous immunoglobulins (IVIG), and plasmapheresis, with rituximab recommended for those unresponsive to first-line therapies. However, reliable biomarkers for clinical assessment remain elusive.
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