Medicine
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Case Reports
Case report: Biallelic variants in POLR3B gene lead to 4H leukodystrophy from the study of brother and sister.
4H leukodystrophy, one of POLR3-related leukodystrophy, is a rare hereditary brain white matter disease caused by the pathogenic biallelic variations in POLR3A, POLR3B, or POLR1C. Hypomyelination, hypodontia, and hypogonadotropic hypogonadism is mainly presented in patients with 4H leukodystrophy. ⋯ The exploration of molecular functions and genetic counseling are crucial for further diagnosis and treatment of POLR3-related leukodystrophy.
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Although echocardiography is widely used for preoperative cardiac risk evaluation, few studies have analyzed the effect of performing preoperative echocardiography on intraoperative anesthetic management and postoperative outcomes. We investigated the effect of performing echocardiography on intraoperative anesthetic management and postoperative outcomes in patients with cardiovascular risk. We retrospectively evaluated patients who had undergone major abdominal surgery and satisfied 2 or more of the following criteria: hypertension, diabetes mellitus, age ≥70 years, and previous cardiac disease. ⋯ There were no differences in 30-day mortality, incidence of postoperative cardiovascular complications, length of hospital stay, and intraoperative events between the groups. Only the incidence of cardiac output monitoring was lower in the echo group than in the non-echo group (59.6% vs 73.9%). Preoperative echocardiography does not affect postoperative outcomes, but it has the potential to affect intraoperative anesthetic management such as invasive hemodynamic monitoring during surgery.
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Graves disease (GD) and type 2 diabetes mellitus (T2DM) both impair liver function; we therefore explored the possibility of a relationship among diabetic control, thyroid function, and liver function. This retrospective, cross-sectional study compared serum liver function biomarkers of primary GD patients in a single center between 2016 and 2020, derived from clinical databases, and clarified the correlation of liver function in GD patients with or without T2DM. Furthermore, the diabetes mellitus group was divided into glycated hemoglobin A1C (HbA1C) <6.5% group and ≥6.5% group to further analyze the effect by disease control in patients. ⋯ GPT was correlated with triiodothyronine but not with FT4, which indicated the impairment of deiodination in the liver. This phenomenon was not observed in the non-T2DM population. The early detection of abnormal liver function in patients with GD and T2DM may help limit the development of comorbidities and improve disease management.
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To evaluate the effects of Chêneau bracing on Cobb's angle (CA) and spinopelvic parameters in adolescent idiopathic scoliosis (AIS) patients. In this retrospective study, we evaluated 51 AIS patients who received Chêneau bracing treatment between January 2020 and August 2021. The prebracing and in-bracing radiographs were analyzed about the spinopelvic parameters. ⋯ Chêneau's bracing effects of AIS can be extended to the pelvis. Affected by the Chêneau brace, the pelvis should be retro-rotated correspondingly to TLK hyperkyphosis on the sagittal plane, whereas in the coronal plane, pelvic obliquity was improved independently. The effect of Chêneau braces on the pelvic parameters should be fully considered before bracing treatment.
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This study aimed to investigate the macrophage migration inhibitory factor (MIF) and associated clinical factors in neonates. Clinical information and blood samples were obtained from 77 neonates. Clinical details were reviewed from medical records, and MIF was measured by enzyme-linked immunosorbent assay using blood samples acquired within a week after birth. ⋯ The mean MIF was 9849.5 ± 7187.8 pg/mL in preterm, 5718.7 ± 4596.4 in late preterm, and 5361.1 ± 3895.7 in term infants (P = .016). Among 25 preterm infants born at <34 weeks of gestation, MIF was significantly higher in infants with necrotizing enterocolitis (NEC, 19,478.6 ± 8162.4 pg/mL, n = 5) than that in infants without NEC (feeding intolerance 7173.7 ± 4203.0 pg/mL, n = 12 and others 7844.9 ± 5311.2 pg/mL, n = 8, P = .020). Elevated plasma MIF levels in the transitional period were significantly associated with preterm birth before 34 weeks of gestation and the development of NEC.