Results 51 to 60 of about 11,501 (187)
JPGN Reports, EarlyView.Abstract Infantile exocrine pancreatic insufficiency is a rare condition, most often encountered in the context of cystic fibrosis or Shwachman–Diamond syndrome. The SPINK1 gene encodes a trypsin inhibitor protein that prevents the premature activation of digestive enzymes in pancreatic tissue.
France Chalon +10 more
wiley +1 more source
Factor XIII Deficiency: A Silent Bleeder Behind a Normal Coagulation Profile. [PDF]
Clin Case RepABSTRACT Factor XIII deficiency is a rare cause of bleeding disorder. An 8‐month‐old male infant presented with persistent bleeding from a minor lip cut injury, which was sustained 2 days prior. The bleeding did not stop despite local hemostatic measures.
Yadav R +5 more
europepmc +2 more sources
Immunotherapy‐Related Cutaneous Toxicities in Melanoma: A Dermoscopic Perspective
JEADV Clinical Practice, EarlyView.Dermoscopy serves as a valuable tool in the everyday dermatological and oncological practice for melanoma patients, allowing for the prompt identification of immune‐related cutaneous toxicities and guiding clinicians toward appropriate therapeutic decisions.
Grażyna Kamińska‐Winciorek +3 more
wiley +1 more source
Primary repair with no flaps for lower lip defects (30–80 %) after cancer excision
Asian Journal of SurgeryReconstruction of the lip is a necessary procedure when lip tumors are excised. Although many good techniques have been described, they often have disadvantages such as necrosis and extensive suture lines.
M. Yousefi +8 more
doaj +1 more source
Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation
The Laryngoscope, EarlyView.We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal +3 more
wiley +1 more source
Magnetic Resonance in Medicine, EarlyView.ABSTRACT Purpose In diffusion MRI, vasogenic edema manifests as a major fraction of isotropic water that dilutes the anisotropic intra‐axonal portion of the signal. Many tractography algorithms mistake vasogenic edema for the white matter boundary and terminate tracking to prevent producing spurious streamlines.
Patryk Filipiak +6 more
wiley +1 more source
Procedural‐Based Contemporary Management of Bell's Palsy Long‐Term Sequelae: A Narrative Review
Otolaryngology–Head and Neck Surgery, EarlyView.Abstract Objective To describe the long‐term sequelae of Bell's palsy and summarize available treatment options, including recent advances, so that general otolaryngologists and other practitioners are aware of the clinical findings and available interventions. Data Sources PubMed.
Robert M. Frederick +3 more
wiley +1 more source
Case Reports in Hematology, 2018 Acquired angioedema due to C1 inhibitor deficiency (C1INH-AAE) is a rare and potentially fatal syndrome of bradykinin-mediated angioedema characterized by episodes of angioedema without urticaria.
Abdullateef Abdulkareem +5 more
doaj +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa +7 more
wiley +1 more source
A rare case of plexiform schwannoma of the lower lip: Treatment and management
Indian Journal of Plastic Surgery, 2015 An 18-year-old female presented with a swelling on the lower lip, which was insidious in onset and gradually progressive. The mass was completely excised under local anaesthesia.
Subha Dhua
doaj +1 more source