Objective To explore the influence of Helicobacter pylori (Hp) infection in serum lipoprotein associated phospholipase A2 (Lp-PLA2), carotid intima-media thickness and stability of atherosclerotic plaques in atherosclerosis patients.Methods A total of 393 cases of patients with carotid artery arteriosclerosis confirmed by carotid color uhrasonography, who are informed consent, was selected as objects.The14C urea breath test was used to determine the infection situation of selected objects of helicobacter pylori.Meanwhile, enzyme-linked immunosorbent assay (ELISA) was used to determine the level of serum lipoprotein associated phospholipase A2 (Lp-PLA2).Results Serum Lp-PLA2 levels and carotid intimamedia thickness (IMT) of patients with carotid artery atherosclerosis in Hp infection group were higher than that of Hp non-infection group, and with the degree of Hp infection aggravating in the patients of carotid artery atherosclerosis, their serum Lp-PLA2 levels and carotid IMT were also increased accordingly.F test showed that the differences of serum Lp-PLA2 levels and carotid IMT in different degree of carotid artery atherosclerosis group were statistically significant (P ＜0.01).The incidence of unstable plaque of Hp infection group was obviously higher than that of the Hp non-infection group in the carotid atherosclerosis with plaques with statistical significance (chi square value =4.744, P =0.029).Multivariate linear regression analysis showed that the possibility of complication of unstable plaques in Hp infection group of carotid artery atherosclerosis was 1.82 times than that of non-infection group.With serum Lp-PLA2 every increasing 1 μg/L, the possibility of instability plaque increased by 2％.Conclusions Hp infection may promote the occurrence and development of carotid artery atherosclerosis by increasing serum level of Lp-PLA2 and changing the stability of atherosclerotic plaques.

Objective To explore the relationship between Helicobacter pylori(Hp) infection and serum homocysteine(Hcy) level ,carotid intima-media thickness and plaque stability in carotid atherosclerosis cases .Methods 206 carotid atherosclerosis pa-tients were collected between March 2012 and January 2013 in our hospital .According to the results of 14C urea breath test ,all the subjects were divided into Hp infection group and non-Hp infection group .And according to the degree of carotid artery atheroscle-rosis ,patients with Hp infection were divided into carotid intima-media thickness thickening group ,stable plaque group and unstable plaque group .The serum Hcy level was detected by enzymatic cycling method ,and the relationship between Hp infection and serum Hcy level ,carotid intima-media thickness and plaque stability in carotid atherosclerosis cases were analyzed .Results Serum Hcy level and carotid carotid intima-media thickness of patients with carotid atherosclerosis in Hp infection group were higher than those in non-Hp infection group(P<0 .01) .The differences in constitution ratio of patients with different types of carotid atherosclerosis in Hp infection group and non-Hp infection group was statistically significant(χ2 =15 .939 ,P=0 .000 3) .In Hp infection group , there were statistically of serum Hcy levels among carotid intima-media thickness thickening group ,stable plaque group and unsta-ble plaque group(P<0 .01) .Linear correlation analysis showed that the serum Hcy level and carotid intima-media thickness were positively correlated in Hp infection group(r=0 .731 ,P<0 .01) .Conclusion Hp infection is likely to promote the development and progression of atherosclerosis through influencing Hcy metabolism and increasing carotid intima-media thickness and instability of carotid atherosclerotic plaque .

Objective:To summarize the clinical manifestations and determine the molecular etiology for three KCNMA1-related neurological disorders.Methods:A retrospective clinical data analysis was performed on 3 patients with clinically and genetically diagnosed neurological diseases related to KCNMA1 gene variants who were diagnosed and treated in the Department of Pediatrics, Xiangya Hospital of Central South University from January 2020 to December 2022.Results:Case 1, a 4-year-old and 8-month-old female, was diagnosed with " episodes of head-raising and lowering for 11 months". The electroencephalogram (EEG) showed background theta rhythm in the occipital area, with mainly sharp waves and peaks in the bilateral central, parietal, occipital and temporal areas. Slow waves were scattered or paroxysmal, affecting the central, parietal, and temporal areas on the right side. Levetiracetam was given as an anti-epileptic treatment, and the seizures were completely controlled. Physical examination revealed unclear articulation and short stature. The patient′s mental development has been delayed since childhood. After 2 years of rehabilitation treatment, his motor development was normal and his language development was slightly delayed. Whole-exome sequencing found a novel c. 1807A>G (p.Thr603Ala) mutation in the KCNMA1 gene, which was graded likely pathogenic (LP). Case 2, a male, 1 year and 4 months old, went to the hospital because of " recurrent stupor attacks for more than 6 months". Nearly 20 epileptic events were detected on the electroencephalogram. Levetiracetam, sodium valproate and clonazepam were administered successively. Seizure treatment, complete seizure control. Brain magnetic resonance imaging (MRI) showed poor cerebellar development. Development was lagging behind that of normal children of the same age. Whole-exome sequencing found a novel c. 756C>A (p.Phe252Leu) mutation in the KCNMA1 gene, which was graded LP. Case 3, a 16-month-old female, went to the hospital because of " trembling upper limbs, slurred speech for more than 10 years, and unsteady gait for 8 years." The electroencephalogram showed no abnormalities, and brain MRI showed cerebellar atrophy. Physical examination: unclear speech, unsteady grasping of objects with both hands, muscle strength of limbs level 4, and ataxic gait. Whole-exome sequencing found a novel c. 1051T>C (p.Ser351Pro) mutation in the KCNMA1 gene, which was graded LP.Conclusions:The core phenotypes of KCNMA1 gene mutation-related neurological diseases include epilepsy, neurodevelopmental disorders and paroxysmal dyskinesia, and cerebellar atrophy is common in brain MRI.

Börjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked intellectual disability. The main features of the patients include intellectual disability/global developmental delay, characteristic face, anomalies of fingers and toes, hypogonadism, linear skin hyperpigmentation, and tooth abnormalities in female patients, and obesity in male patients. A case of BFLS caused by a novel mutation of PHF6 gene who was treated in the Department of Pediatrics, Xiangya Hospital, Central South University was reported. The 11 months old girl presented the following symptons: Global developmental delay, characteristic face, sparse hair, ocular hypertelorism, flat nasal bridge, hairy anterior to the tragus, thin upper lip, dental anomalies, ankyloglossia, simian line, tapering fingers, camptodactylia, and linear skin hyperpigmentation. The gene results of the second-generation sequencing technology showed that there was a novel heterozygous mutation site c.346C>T (p.Arg116*) of the PHF6 (NM032458.3), variation rating as pathogenic variation. During the follow-up, the patient developed astigmatism, strabismus, awake bruxism, and stereotyped behavior, and the linear skin hyperpigmentation became gradually more evident. The disease is lack of effective therapy so far.
Humans ; Male ; Female ; Child ; Infant ; Intellectual Disability/genetics* ; Mental Retardation, X-Linked/pathology* ; Obesity/complications* ; Hypogonadism/pathology*