Fifty-five patients with disorders of intestinal rotation (DIR) are reviewed. Dir can occur at any age. Twenty-nine adults and twenty-six children were treated in this group. The clinical manifestation is mainly that of intestinal obstruction, with an incidence of 85%. In this group, 11 patients were complicated with other congenital malformation, and the incidence was 20%. It is difficult to diagnose DIR from the clinical manifestation, but the definite diagnosis can be made by roentgenography in most patients. Surgery can treat the intestinal obstruction and associated malformation synchronously. The results of treatment were satisfactory.
Objective To improve the surgical procedure to correctpectus carinatum. Methods From 1990 to 2003, 9 patients with pectus carinatum were treated, whose ages ranged from 3 years and 6 months to 16 years. The conventional operation was performed on 4 patients, the modified procedure on 5 patients. The modified procedure included: ①the shortening rib periosteum was not sutured transversally；② the corrected position of the sternum was stabilized with the metal strut. Results In 4 patients corrected by the conventional procedure, the sternum depression as pectus excavatum occurred in 1 case five years postoperatively. The results were satisfactory in 5 patients corrected by the modified procedure. The reconstructed thorax was symmetrical, without bulging or dimpling of sternum and costal cartilage. Conclusion The improvement of operative method isreasonable and effective in correcting pectus carinatum.
Objective To formulate an evidence-based conclusion concerning ultrasound screening for fetal malformations for a pregnant woman after 12 gestational weeks. Methods Based on the clinical problem of whether pregnant women need ultrasound screening for fetal malformations after 11-14 gestational weeks, we used “ultrasound or sonography and prenatal or fetal at first trimester or 11-14 weeks; ultrasound exposure; fetal development” as the keywords and searched The Cochrane Library (Issue 4, 2008), MEDLINE (1981 to 2008), ACP Journal Club (1991 to 2008), and BMJ Clinical Evidence (1999 to 2008) for systematic reviews, randomized controlled trials (RCTs) and controlled clinical trials. The methodological quality of the included studies was assessed to identify the current best evidence. Results Three systematic reviews, two RCTs and ten cohort studies were retrieved. The results showed ultrasound screening detected different fetal malformations in the first, second and third trimester. Not all of the fetal malformations could be detected through prenatal ultrasound screening. Nuchal translucency (NT) measurement as a tool for screening chromosomally abnormal fetuses and detecting fetal malformations by ultrasound proved to be effective if performed within 11-14 gestational weeks. The routine second trimester screening, however, could not be replaced by a detailed ultrasound examination at 11-14 gestational weeks. Most of the trials concluded that the effect of ultrasound on a fetus was not harmful. Conclusion The findings of this study should reassure physicians and parents alike that ultrasound screening is an appropriate option for the pregnant women after 12 gestational weeks.
ObjectiveMalformations of cortical development (MCDs) are increasingly identified as important etiology for refractory epilepsy. Little is known about the spectrum, distribution and clinical features of MCDs, especially in a resource-limited region. This study investigated the distribution and compared the clinical features and long-term prognosis between simple and multiple forms. MethodsConsecutive 150 epilepsy patients with pathologically or radiologically confirmed MCDs were included from a tertiary epilepsy center in western China. Patients were divided into three subtypes according to the scheme of Barkovich, also Simple and Multiple forms based on whether single type of MCDs or other brain developmental abnormalities co-existed. ResultsThe most common type of MCDs is focal cortical dysplasia, and China is still in the early phase of implementing surgical treatments. We found perinatal insults more common in sub-group III patients. Furthermore, 'Multiple' form was identified in 36/150 patients. Patients with heterotopias were more commonly associated with other abnormalities. ConclusionMCDs are critical causes for epilepsy, also a big challenge for resource-limited countries. Imaging techniques are crucial in diagnosing and classifying cortical deformities. Multiple malformations lead to more severe clinical features and worsen the prognosis, helping physicians to seek the best therapeutic option, also assists in classifying MCDs.
ObjectiveTo explore the efficacy and safety of ketogenic diet (KD) in the treatment of drug-resistant epilepsy in children with malformations of cortical development (MCD). MethodsThe clinical data of 10 children with drug-resistant epilepsy caused by MCD treated in the Epilepsy Center of Children's Hospital affiliated to Shandong University from May 2021 to February 2023 were analyzed retrospectively. All of them received classical KD treatment for the first time. The patients were followed up at 1, 3, 6 and 12 months after KD treatment. The clinical efficacy was evaluated by Engel grade and the adverse reactions were recorded at the same time. ResultsThere were 10 patients in this study, including 5 males and 5 females. The age of onset was 0.2~36.0 (10.3±11.1) months, 2.0~31.0 (9.7±8.5) months, and the age of starting KD was 3.0~50.0 (20.0±15.7) months. Cranial imaging showed that there were 2 cases of hemimegalencephaly, 1case of lissencephaly, 1 case of pachygyria combine polymicrogyria, and 6 cases of FCD,3 had gene abnormality (2 cases of DEPDC5 gene, 1 case of ARX gene). All children had different degrees of developmental retardation before KD treatment. The antiseizure medications taken before KD treatment were 2.0~5.0 (3.2±0.9). 5/10 (50%) children had a >50% reduction in seizure frequency at 3 months on the diet, 2/10 (20%) children had a seizure free response. The rate of development improvement was 50.0% (5/10) at 3 months. 5 cases had mild adverse reactions (50%), including 1 case of hypokalemia and 4 cases of gastrointestinal reactions, all of which were relieved after the reduction of the proportion of KD diet. None of the children stopped using KD. ConclusionKD therapy is a safe and effective method for the treatment of drug-resistant epilepsy in children caused by MCD, and some children can improve their developmental level.