Articles: disease.
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Case Reports
Laparoscopy combined with transvaginal surgery for Herlyn-Werner-Wunderlich syndrome: A case report.
Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital Mullerian duct anomaly disease that is characterized by a triad of symptoms, didelphys uterus, blind hemivagina, and ipsilateral renal agenesis. Herein, we reported a case from China. ⋯ Abnormal urination and other symptoms should be carefully examined in adolescent girls with abdominal pain not menarche, since they may be related to reproductive organ development disorders and other diseases. We recommend laparoscopy combined with transvaginal surgery to remove the oblique septum in HWW syndrome, which is rarely reported.
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Aicardi syndrome is a genetic malformation syndrome with a triad of dysgenesis or agenesis of the corpus callosum, distinctive chorioretinal lacunae and infantile spasms. It is a rare developmental disorder first described in 1965. The disease affects 1 in 100,000 live births. ⋯ Children with congenital central nervous system malformations should undergo regular ophthalmic checkups to facilitate diagnosis and determine prognosis of visual function development.
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Maturity onset diabetes of the young (MODY) is the most common type of monogenic diabetes, characterized by autosomal dominant inheritance, the age of onset is often <25 years old, and the clinical manifestations are atypical. MODY12 is caused by a rare missense mutation of adenosine triphosphate (ATP)-binding cassette transporter subfamily C member 8 (ABCC8) gene and more than 50 ABCC8 variants were associated with MODY12. ⋯ A Chinese Han adult with a heterozygous missense mutation c.3976G > A (p.Glu1326Lys) was diagnosed with MODY12, which was the new pathogenic mutation for the disease. This report expands the spectrum of variants causing MODY12 and reduces misdiagnosis.
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Case Reports
Thymoma with systemic lupus erythematosus and immune-related anemia: A case of thymoma with SLE and IRA.
Thymic epithelial tumors (TETs), including thymomas and thymic carcinomas. Thymomas are rare tumors, but are one of the most common mediastinal neoplasms in adults. The pathology of thymoma with Systemic Lupus Erythematosus (SLE) and severe pancytopenia is rarely reported. Thus, the current study demonstrates a case of thymoma with SLE and immune-related anemia with unique clinical manifestation. ⋯ we present the diagnosis and treatment of a case of thymoma with SLE and immune-related anemia, and provides references for the clinical diagnosis and treatment of thymoma combined with SLE, and attempts to explain that SLE patients with thymoma may contribute to the clinical remission of SLE after thymoma resection. It should arouse the attention of clinicians when diagnosing and treating related diseases.
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Rheumatoid arthritis (RA) causes inflammation in various organs including the lungs. Pulmonary manifestations include inflammation of the pleura, vasculature, airway, and parenchyma, including interstitial lung disease (ILD). RA-organizing pneumonia (OP) is the third most common cause of RA-ILD. Cases of OP coexisting/complicated with lung cancer have been reported. Therefore, lung cancer can represent a diagnostic challenge, especially in patients with underlying pulmonary diseases including OP. ⋯ Physicians should be aware of the development of lung cancer in regions with OP, even after a partial response to corticosteroid therapy.