Medicine
-
Both spinal muscular atrophy (SMA) and Phenylketonuria (PKU) are caused by biallelic pathogenic mutations. However, there has been no report on case who suffering from both diseases simultaneously. SMA mainly affects the motor function while PKU may have an impact on both the intelligence and motor function. But if only 1 disease is treated while neglecting the other, the treatment effect will be compromised. Here, for the first time, we report a case from China diagnosed with both these diseases and treated properly. ⋯ To our knowledge, this is the first reported case of SMA combined with PKU. This case expands our understanding of diagnosis for synchronous SMA and PKU and highlights the importance of comprehensive examinations and the utilizing of various genetic testing methods to make an accurate diagnosis of genetic diseases, which may help avoiding the progressive damage caused by certain genetic disease with insidious clinical symptoms.
-
Lung adenocarcinoma may resemble the clinical presentation of an infectious or inflammatory lung disease. The coexistence of lung cancer, and polyserous effusions is uncommon, which may cause a diagnostic challenge. However, any polyserous effusions at a young age must always be suspicious for malignancy. ⋯ Our case highlights the diagnostic challenges posed by atypical presentations of lung adenocarcinoma and emphasizes the importance of considering malignancy in the differential diagnosis of polyserous effusions, even when initial cytology results are negative. Clarifying the rationale for this study enhances its relevance and impact.
-
Case Reports
A case report of interstitial pneumonia induced by vedolizumab in a patient with ulcerative colitis.
The interstitial pneumonia (IP) linked to vedolizumab (VDZ) in patients with ulcerative colitis (UC) is rare. Prompt diagnosis and treatment can improve patient outcomes. ⋯ VDZ-induced IP should be considered when evaluating pulmonary infections in UC patients treated with VDZ.
-
Adrenal infarction (AI) is a rare type of adrenal damage, which is relatively common in systemic lupus erythematosus, antiphospholipid antibody syndrome (APS) and pregnancy. The diagnosis of AI is mainly by computed tomography (CT) and magnetic resonance imaging, but is easily confused with other adrenal disease. Hence, this report details a condition of AI with systemic lupus erythematosus, APS and made a differential diagnosis from imaging. ⋯ AI can be divided hemorrhagic and non-hemorrhagic, with bilateral lesions more common. In our case, the AI was bilateral, partially involved and non-hemorrhagic, and the "cutoff sign" was first put forward in CT, which might assist the diagnosis.
-
Observational Study
Influence of male body mass index on semen analysis parameters and in vitro fertilization outcomes.
Concurrent global increase of prevalence of obesity and male fertility implies link between overweight and obesity with male subfertility. This hypothesis is supported by numerous population-based epidemiological studies. Increase in body mass index (BMI) is associated with poor sperm quality in fertile, and more noticeable in infertile men. ⋯ The number and proportion of good quality embryos is significantly lower in overweight and obese study groups compared to normal weight and underweight groups (2.89, 2.91, 2.42, and 2.36, respectively, P = .041). The differences in other IVF outcomes: total number of embryos (3.61, 3.74, 3.21, and 3.37, respectively) and clinical pregnancy rates (41.26%, 43.09%, 42.78%, and 39.95%, respectively) between study groups were not significant (P > .05). BMI does not significantly affect semen analysis parameters, but a higher BMI is associated with a lower number and proportion of good quality embryos in IVF outcomes.