Patients with personal or family history of congenital hypothyroidism, and/or neurological findings that also have chronic respiratory symptoms may have a mutation in the NKX2.1 gene as the unifying cause of their disease. Brain-lung-thyroid disease is the ensuing condition, which although rare, needs to be part of the differential diagnosis
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http://dx.doi.org/10.1002/ccr3.901 | DOI Listing |
Respir Med Case Rep
January 2025
Department of Rheumatology of Lucania - UOSD of Rheumatology, "Madonna delle Grazie" Hospital, Matera, Italy.
Background: Anti-Ku antibodies are autoantibodies directed against the Ku protein complex involved in DNA repair. They are typically associated with overlap syndromes featuring polymyositis and systemic sclerosis. Isolated pulmonary involvement without myositis is exceedingly rare.
View Article and Find Full Text PDFCase Rep Pulmonol
January 2025
Prisma Health, University of South Carolina-School of Medicine, Columbia, South Carolina, USA.
Diffuse alveolar hemorrhage (DAH) is a potentially life-threatening condition which can present with hemoptysis, diffuse alveolar infiltrates, anemia, and hypoxic respiratory failure. Antisynthetase syndrome (AS) is a rare autoimmune disorder most often characterized by nonerosive arthritis, proximal muscle weakness with elevated muscle enzymes, Raynaud's phenomenon, hyperkeratosis of the digits (mechanic's hands), and interstitial lung disease. According to large population studies, AS has an annual incidence of 0.
View Article and Find Full Text PDFBreast Cancer (Dove Med Press)
January 2025
GOIRC (Gruppo Oncologico Italiano di Ricerca Clinica), Parma, Italy.
In recent years, new anticancer drugs have been investigated and approved for the treatment of breast cancer based on improved survival outcomes. However, these new treatments have specific class-related side effects. Pulmonary toxicity has been identified as an adverse event of special interest with everolimus, and is becoming an increasingly significant clinical challenge with the recent approval of trastuzumab deruxtecan.
View Article and Find Full Text PDFFront 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 PDFRev Cardiovasc Med
January 2025
Division of Cardiology, Maggiore della Carità Hospital, 28100 Novara, Italy.
Cardiac manifestations in systemic sclerosis (SSc) are variable and are associated with a poor prognosis, frequently resulting in impaired right ventricular function and heart failure. A high proportion of patients with SSc experience pulmonary arterial hypertension (PAH), interstitial lung disease, or myocardial involvement, all of which can lead to exercise intolerance. In this context, cardiopulmonary exercise testing (CPET) is a useful tool for diagnosing exercise intolerance, elucidating its pathophysiology, and assessing its prognosis.
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