Medicine
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Cerebral autosomal dominant arteriosis with subcortical infarction and leukoencephalopathy (CADASIL) is a single-gene small-vessel disease of the brain characterized by migraine, recurrent ischemic stroke, psychiatric disorders, progressive cognitive decline, and occasional intracerebral hemorrhage.[1]NOTCH3 was identified as a pathogenic gene for CADASIL.[2] The NOTCH3 gene encodes a membrane-bound receptor protein, and to date, several different NOTCH3 gene mutations have been identified.[3] Here, we report a case of CADASIL with a heterozygous mutation c.931T > G (thymine > guanine) on the exon region of the NOTCH3 gene, resulting in an amino acid change p.C311G (cysteine > glycine). ⋯ This case reminds us that mutations caused by different mutation sites present different clinical symptoms.
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Case Reports
First report of surgery for anencephaly in twin pregnancies: Technical notes and postoperative management.
Anencephaly, the most severe form of neural tube defect, has no known cure, and in most cases, patients die before or shortly after birth. To date, no surgical intervention has been reported in the management of anencephaly. This study presents a case of dichorionic-diamniotic twin pregnancy in which 1 twin was anencephalic and describes the surgical management of this complex case. ⋯ We also aimed to highlight several clinical issues, including the challenges of managing anencephaly in twin pregnancies, problems experienced during the follow up process in our case, diagnosis of brain death in anencephaly cases, and ethical dilemmas related to organ donation. This case is notable because of the challenging nature of the surgical procedure and complexity of postoperative care. By highlighting the difficulties encountered during the follow up period, we hope to provide insights to health professionals that can inform the management of similar cases in the future.
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To explore the application effect of the Knowledge, Attitude, and Practice (KAP) model combined with motivational interviewing for health education in the chronic disease management of female patients with systemic lupus erythematosus (SLE). In this study, 84 women with SLE who were admitted to a tertiary hospital in Tianjin from July 2021 to April 2022 were enrolled in this study and divided into observation (n = 42) and control groups (n = 42). The control group received routine health education and treatment for chronic diseases. ⋯ The observation group had a higher total compliance score in the third month than the control group (t = 5.101, P = .007). From before the intervention to the first and third months of the intervention, the improvement in the observation group demonstrated an interaction with the time group compared with that in the control group (F = 68.116, P 8..001; F = 4.884, P = .032; F = 24.789, P < .001). Motivational interviewing based on the KAP model is effective in the short-term overall health literacy of female patients with SLE, especially in terms of communication, health improvement, and information acquisition; after 3 months, it can influence and maintain high patient compliance.
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Case Reports
Progressive scoliosis associated with microphthalmia with limb anomalies: A case report.
Microphthalmia with limb anomalies is a rare, autosomal recessive, multiple congenital anomaly syndrome. Patients with this syndrome particularly present with monocular or bilateral anophthalmia/microphthalmia and distal limb anomalies. However, details regarding associated spinal deformities have not been fully elucidated. ⋯ This report demonstrated a case of progressive scoliosis associated with microphthalmia with limb anomalies. A posterior corrective spinal fusion was effective to preserve standing/sitting balance. To the best of our knowledge, this is the first report of surgical treatment of progressive scoliosis associated with microphthalmia with limb anomalies.
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Dynamic lung hyperinflation (DLH) caused by air trapping, which increases residual air volume, is a common cause of shortness of breath on exertion in chronic obstructive pulmonary disease (COPD). DLH is commonly evaluated by measuring the decrease in maximal inspiratory volume during exercise, or using the hyperventilation method. However, only few facilities perform these methods, and testing opportunities are limited. ⋯ However, in the patient with COPD and long-term smoker, TV E-I began to decrease immediately after the initiation of exercise. These results indicate that DLH can be visually detected using CPET data. However, this study was a validation of a limited number of cases, and a comparison with existing evaluation methods and verification of disease specificity are required.