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Case report: Multisystemic smooth muscle dysfunction syndrome: a rare genetic cause of infantile interstitial lung disease.
Front Pharmacol
January 2025
Respiratory Department II, National Clinical Research Center for Respiratory Diseases, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an autosomal dominant disorder caused by mutations in the gene, resulting in variable clinical manifestation and multi-organ dysfunction. Interstitial lung disease (ILD) is a rare phenotype of this condition. We describe a rare infant case of an 8-month-old boy who presented with progressively worsening dyspnea, along with intermittent episodes of respiratory distress and cyanosis since birth.
View Article and Find Full Text PDFHydrolethalus Syndrome: A Case of a Rare Congenital Disorder.
Diagnostics (Basel)
January 2025
Department of Dentistry, Faculty of Dentistry, "Vasile Goldiș" Western University of Arad, 94-96 Revolutiei Blvd., 310025 Arad, Romania.
This is a fatal case of multiple complicated congenital anomalies displaying several symptoms consistent with hydrolethalus syndrome. The newborn's phenotype is characterized by a combination of serious anatomical abnormalities such as open-book cerebral hemispheres, defective lobulation of the lungs (one lobe on the left, two on the right), a smaller right kidney, a smooth cerebral surface, and a specific keyhole-shaped defect in the skull base, primarily associated with hydrocephalus.
View Article and Find Full Text PDFAccessory uterine cavities: a review of cases and an appeal for standard terminology.
Fertil Steril
January 2025
Department of Gynaecology, Royal Children's Hospital, Melbourne, Australia; Department of Paediatrics, University of Melbourne, Australia.
Objective: To study and address the diagnostic, management, and classification challenges of unilocular myometrial cystic lesions adjacent to a normal uterine cavity.
Design: Describe 23 further cases, and undertake a systematic review using Medline, PubMed and Ovid for similar lesions.
Subjects: 23 cases of accessory uterine cavities presenting to pediatric and adolescent gynecologists in Australia and New Zealand.
An Acellular Platform to Drive Urinary Bladder Tissue Regeneration.
Adv Ther (Weinh)
January 2025
Department of Urology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA; Division of Pediatric Urology, Department of Surgery, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; Center for Regenerative Nanomedicine, Northwestern University, Chicago, IL 60611, USA; Department of Biomedical Engineering, McCormick School of Engineering, Northwestern University, Evanston, IL 60208, USA.
Impaired bladder compliance secondary to congenital or acquired bladder dysfunction can lead to irreversible kidney damage. This is managed with surgical augmentation utilizing intestinal tissue, which can cause stone formation, infections, and malignant transformation. Co-seeded bone marrow mesenchymal stem cell (MSC)/CD34+ hematopoietic stem cell (HSPC) scaffolds (PRS) have been successful in regenerating bladder tissue.
View Article and Find Full Text PDF2024 HRS perspective on advancing workflows for CIED remote monitoring.
Heart Rhythm O2
December 2024
Philips, San Diego, California.
Cardiac implantable electronic devices (CIEDs) generate substantial data, often stored in image or PDF formats. Remote monitoring, now an integral component of patient care, places considerable administrative burdens on clinicians and staff, in large part due to the challenge of integrating these data seamlessly into electronic health records. Since 2006, the Heart Rhythm Society, in collaboration with the CIED industry, has led an initiative to establish a unified standard nomenclature.
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