Medicine
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Hereditary folate malabsorption (HFM) is characterized by folate deficiency with impaired intestinal folate absorption and impaired folate transport into the central nervous system. Its manifestations mainly include macrocytic anemia, recurrent infections, and neurological deficits. The neurological manifestations include progressive psychomotor retardation, behavioral disorders, and early-onset seizures. ⋯ Folinic acid supplementation is effective and may offer life-changing therapy for patients with HFM.
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Observational Study
Single-center, retrospective study of the outcome of laparoscopic inguinal herniorrhaphy in children.
Laparoscopic hernia repairs are used increasingly in children. The purpose of this single-center cohort observational research study was to analyze the outcome of children treated surgically for unilateral or bilateral inguinal hernia using laparoscopy. We did a STROBE-compliant retrospective outcome analysis of pediatric, laparoscopic hernia repair. ⋯ Wound cosmesis was rated by the parents as invisible or barely visible in 106 (86.2%) of 123 patients and esthetically disturbing in 4 (3.2%) children. Laparoscopic inguinal hernia repair carries a learning curve and is safe and efficient in children thereafter. Further prospective studies are required to evaluate the long-term outcome of laparoscopic inguinal hernia repair in children.
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Case Reports
A rare case of nonresterilized reinforced ETT obstruction caused by a structural defect: A case report.
Various factors can cause ventilatory failure after endotracheal tube (ETT) intubation, which is associated with increased patient morbidity and mortality. ⋯ Anesthesiologists should consider that a non-resterilized reinforced ETT may be defective. An ETT defect can cause high PIP and ETT obstruction without kinking or foreign materials.
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Case Reports
Prenatal diagnosis for a Chinese family with a de novo DMD gene mutation: A case report.
Patients with Duchenne muscular dystrophy (DMD) usually have severe and fatal symptoms. At present, there is no effective treatment for DMD, thus it is very important to avoid the birth of children with DMD by effective prenatal diagnosis. We identified a de novo DMD gene mutation in a Chinese family, and make a prenatal diagnosis. ⋯ The pathogenic mutation in DMD gene, c.2767_2767delT [p.Ser923LeufsX26], identified in this family is a de novo mutation. On the basis of specific conditions, it is necessary to select suitable methods to make prenatal diagnosis more effective, accurate, and economic.
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Methimazole is an antithyroid drug that is widely used for the treatment of hyperthyroidism. As an inhibitor of the enzyme thyroperoxidase, methimazole is generally well-tolerated. However, there have been increasing reports of methimazole-induced liver damage, although this effect of methimazole has been limited by the absence of objective diagnosis of the liver condition or the inappropriate use of the Naranjo scale. We present the case of an elderly man with hyperthyroidism, gastritis, and epilepsy who developed liver damage after administration of multiple drugs. ⋯ Our case underlines the possible hepatoxicity associated with the use of methimazole. A review of the literature confirmed a selective hepatoxicity risk in individuals of Asian ethnicity, which has not been identified in Caucasian or Black populations. Physicians should be aware of the risk of hepatoxicity when prescribing oral methimazole to patients of Asian ethnicity.