Objective:To discuss the clinical phenotype and genotype characteristics of two pediatric patients with late-onset methylmalonic acidemia(MMA)cblC type,and to provide the basis for early clinical recognition of MMA.Methods:The clinical data of two pediatric patients with late-onset MMA cblC type were collected,including clinical phenotypes,biochemical detection results,blood and urine organic acid analyses,neuroimaging,electroencephalograms,genotypes and so on.The characteristics of the disease were analyzed in combination with the related literature review.Results:Both pediatric patients were female,with onset in adolescence.Patient 1 presented with psychiatric symptoms,while pediatric patient 2 presented with cognitive impairment.Both pediatric patients experienced weakness in both lower limbs and speech disorders.At initial diagnosis,the serum homocysteine(Hcy)levels were severely increased,the urine methylmalonic acid levels were increased,the brain magnetic resonance imaging results indicated brain atrophy,and the electroencephalogram results showed the increased slow wave activity in both cerebral hemispheres.The pediatric patient 2 exhibited epileptiform discharges in bilateral frontal and temporal regions.The genetic testing results showed the c.482G＞A mutation in the MMACHC gene.Both two pediatric patients were treated with intramuscular injections of vitamin B12,along with oral folic acid,vitamin B6,levocamitine,and betaine.The symptoms of two patierts were improved,the serum Hcy levels were decreased,and the urine methylmalonic acid levels returned to normal.Conclusion:The phenotype of late-onset MM A cblC type is diverse,primarily involving neuropsychiatric impairment,with the c.482G＞A mutation being the most common genotype.The increasing of serum Hcy levels and brain atrophy can serve as the biomarkers for the early recognition of late-onset cblC type pediatric patients.

Objective:To investigate the risk factors of recurrence of febrile seizures within 24 hours, so as to provide clinical evidence for early identification of children with risk factors and taking interventions.Methods:A total of 384 children with febrile seizures admitted to the Department of Pediatrics at Hebei General Hospital from June 2019 to June 2021 were selected as the study subjects, and were divided into single seizure group and recurrent seizures group.The clinical data of two groups and the risk factors of recurrent seizures were analyzed retrospectively.Results:A total of 384 children, aging from six months to five years, were diagnosed with febrile seizures.There were 296 cases in the single seizure group and 88 cases in the recurrent seizures group.First seizure, the age of the first sezures, temperature, duration of seizure ≥15 minutes, positive family history and C-reactive protein levels showed statistically significant differences between two groups(all P<0.05). Logistic regression analysis showed that non-first seizure( OR=2.085, 95% CI 1.232-3.529, P=0.006), the age of first seizure( OR=0.970, 95% CI 0.948-0.993, P=0.010), duration of seizure ≥15 minutes( OR=3.587, 95% CI 1.497-8.596, P=0.004) and positive family history( OR=1.892, 95% CI 1.126-3.180, P=0.016) were risk factors of recurrence of febrile seizures within 24 hours.The ROC curve analysis showed that the combination of four risk factors had a higher predictive value, and the area under curve was 0.974. Conclusion:Non-first seizure, the age of first seizure, cluration of seizure ≥15 minutes and positive family history are the risk factors of recurrence of febrile seizures within 24 hours.Children with four risk factors are more likely to have recurrent seizure, and could be used as an indicator for individualized prediction.

Objective:To investigate the clinical and genetic characteristics of Prader-Willi syndrome (PWS).Methods:The clinical data and genetic characteristics of 2 children with PWS diagnosed in Hebei Provincial People's Hospital were retrospectively analyzed, and the relevant literature was reviewed.Results:Case 1, male, aged 6 years and 3 months, was presented to the hospital because of short stature, mild mental retardation, dysarthria, scoliosis, cryptorchidism, micropenis, long skull, narrow face, almond eyes, small mouth, thin upper lip, downward corners of the mouth, fair skin. He had hypotonia and feeding difficulties in infancy, and gradually became hyperappetitive. Bilateral cryptorchidism surgery was performed at 1.5 years old, but the effect was not good. Case 2, male, aged 4 years, presented to the hospital mainly due to obesity, hyperappetite, excessive weight gain, backward language and cognitive function, dysarthria, and scoliosis.The infant had feeding difficulties in the early stage, and bilateral cryptorchidism surgery at the age of 2 was not effective.Methylation specific polymerase chain reaction and methylation specific multilink probe amplification were used to detect the loss of the parent fragment in the key region (15q11-13) of PWS, which confirmed Prader-Willi syndrome.Conclusion:PWS is a rare hereditary disease with complex and diverse clinical manifestations and different characteristics in different age groups. It is highly susceptible to unexplained hypotonia and feeding difficulties in infancy. Children with short stature and obesity should be alert to the disease, which can be clearly diagnosed by molecular genetic techniques.

Objective:To explore the clinical characteristics and genetics of a Chinese patient with Gitelman syndrome (GS) and improve the awareness and diagnosis of GS among clinicians.Methods:Retrospectively analyzed the GS patient's clinical feature, laboratory examination, diagnosis, treatment and literature review admitted to Hebei General Hospital in September 2022.Results:A twelve-year-old boy was admitted to our department due to weakness of lower limbs. Laboratory tests after admission showed hypokalemia, hypomagnesemia, hypocalcemia and metabolic alkalosis. Genetic testing showed tow compound heterozygous mutations in the SLC12A3 gene (c.1456G>A and c.634G>A), which ultimately diagnosed as GS. The patient is on the mend and allowed to leave the hospital after treated by potassium supplement.Conclusion:The rate of leak diagnosis is high. Genetic testing should be undergo earlier if the patients suspected GS.

Klotho is a gene associated with aging, the transmembrane protein encoded by this gene is highly expressed in the kidney, and is also expressed in tissues such as the brain, parathyroid and pituitary glands. The extracellular domain of Klotho can also be cleaved and shed to form soluble Klotho, which acts as a circulating hormone and can be detected in blood, cerebrospinal fluid, and urine. More and more studies have shown that Klotho protein plays an important role in the complex regulation of growth hormone (GH)-insulin-like growth factor 1(IGF1) axis. The interaction between Klotho protein and GH-IGF1 axis is bidirectional, which regulates each other, and then regulates the normal linear growth of children. In addition, Klotho protein can also affect the growth and development of fetus and newborn through different ways, and its mechanism is not very clear.

Objective:To summarize the genetic characteristics of a case of spinal muscular atrophy type 1c.Methods:The case data of a child with spinal muscular atrophy type 1c was retrospectively analyzed, and the genetic analysis and literature review were carried out.Results:The patient, male, started at the age of 2 months, and showed gross motor development backwardness and low muscular tension. Multiplex connection probe amplification technique showed that the child had homozygous deletion mutation in exon 7-8 of SMN1 gene, and there was duplicate mutation in exon 7-8 of SMN2 gene. The number of copies of exon 7/8 was 3/3. His father was a heterozygous deletion carrier of SMN1 gene, and there was homozygous mutation in exon 8 of SMN2 gene. The number of copies of exon 7/8 was 2/3. His mother did not find abnormal exons of SMN1 gene, and the number of copies of exon 7/8 of SMN2 gene was 1/1.Conclusion:Spinal muscular atrophy lacks specific manifestations in the early stage, and the diagnosis mainly depends on genetic testing. Clinicians need to be vigilant, strengthen the early understanding of the disease, and improve the prognosis.

Objective:To explore the application value of wide detector multi-slice spiral CT target scanning technique in the preoperative evaluation of pancreatic cancer.Methods:The clinical data of 22 patients with pancreatic cancer who underwent pancreatic arterial contrast enhanced CT scanning and were diagnosed by pathology in the First Affiliated Hospital of Naval Medical University from September 2019 to October 2019 were analyzed retrospectively. The CT phantom experiment was carried out on the international standard phantom CATPHON500. By changing the scanning radiation dose, scanning mode and scanning field of view, the spatial resolution and density resolution of the image were compared and analyzed. The target scan technical parameters obtained from the experiment were applied to the late arterial phase of MDCT enhanced scan in 22 patients with pancreatic cancer. Executive current, volume scanning mode and small scanning field were used for scanning. The attenuation value (CT value) and noise value (SD value) of pancreatic cancer tissue and normal pancreatic tissue were measured at different phases, the attenuation difference and contrast signal-to-noise ratio (CNR) of the two tissues were calculated, the contrast difference between the two tissues was evaluated, and the CT values of celiac trunk, renal artery and vein, superior mesenteric artery and vein, splenic vein and portal vein were measured, and the display of tumor tissue and peripancreatic important vessels was evaluated.Results:In the phantom experiment, under the condition of the same radiation dose, the image quality of the volume scan mode was better than that of the spiral scan mode (1%@4 mm versus 1%@9 mm at 5 mGy and 1%@2 mm versus 1%@6 mm at 25 mGy). In comparison between pancreatic tumor and pancreatic tissue, the enhancement process of pancreatic tumor tissue was increased at first and then decreased, while that of pancreatic tumor tissue was slightly enhanced. The attenuation difference between pancreatic tissue and tumor tissue and CNR also increased at first and then decreased, reaching the maximum at the late arterial stage [(91.96±29.29)HU, 8.60±5.71]. The differences between each phase were statistically significant ( F values were 47.20 and 19.80 respectively, all P values <0.05). The evaluation of vascular variation and invasion showed that a better arterial phase image could be obtained on the late arterial target scan images, while taking into account the display of splenic vein, mesenteric vein and portal vein. Conclusions:The wide detector MDCT target scanning technique can improve the spatial resolution and density resolution of the image, greatly improve the contrast between tumor tissue and peripancreatic tissue and blood vessels, and provide more accurate tumor staging and resectability evaluation information for preoperative evaluation of pancreatic cancer.

Objective The purpose of this study is to evaluate the safety and effect of the homemade wrist restraint belt in postoperative patients during anesthesia recovery period.Methods Three hundred postoperative patients were randomly assigned into two groups,patients in the control group(n =150)were constrained with traditional restraint belt while patients(n =150)in the observation group were constrain-ed with homemade wrist restraint belt before recovered from general anesthesia in the post anesthesia care unit (PACU).The effectiveness of constraint,patients comfort,constraint related complications,PACU faculty responses on the satisfaction were recorded during anesthesia re-covery period.Results The complications in the observation group were lower than those in the control group (P <0.05).Compared with con-trol group,the patient satisfaction,patient comfort,PACU faculty satisfaction were significant higher in the observation group (P <0.05).Con-clusion The homemade wrist constraints could increase the patient’s safety and comfort,reduce restraint belt related complications during anesthesia recovery period.It revealed more effectiveness than the traditional restraint belt.

Objective To evaluate the clinical efficacy and safety ofHongteng Chang'an Decoction in treating mild and moderate ulcerative colitis (UC) cases.Methods Totally 120 patients of mild or moderate UC were randomly divided into two groups:TCM group of 60 patients, treated by self-madeHongteng Chang'an Decoction;Western medicine group of 60 patients, treated by mesalazine orally. The treatment course of both groups was 6 weeks, also with two-week follow-up. The ESR and CRP levels before and after treatment, the healing of colonic mucosa under endoscopy (according to the Baron score), the clinical efficacy and safety were analyzed statistically.Results CRP of both groups decreased significantly, with obvious statistical significance (P<0.05);ESR of both groups decreased, without statistical significance (P>0.05). The effects of healing of colonic mucosa under endoscopy of TCM group and Western medicine group were 61.37% (27/44) and 64.29% (27/42), respectively, without obvious statistical significance (P>0.05). The total effective rates of TCM group and Western medicine group were 86.7% (52/60) and 75.0% (45/60), respectively, and the TCM group was superior to the Western medicine group (P<0.05).ConclusionHongteng Chang'an Decoction can reduce the serum level of CRP of the mild and moderate UC patients effectively, relieve inflammation, and promote the healing of colonic mucosa. The treatment of mild and moderate ulcerative colitis byHongteng Chang'an Decoction has good clinical efficacy, without toxic side effects.

This study was to explore the value of maternal serum screen in identification of fetal abnormal chromosome and neural tube defect(NTD). By using time-distinguished fluorescence immunoassay, serum levels of free-β-HCG and alpha fetal protein(AFP)were obtained in 7698 pregnant women at 15～20 +6weeks. and 483 were found at a higher risk of fetal abnormal chromosome. Based on amniotic fluid examination or cord blood testing on 344 high. Risk participants. Fetal abnormal chromosome was found in 18 women with a positive rate of 5. 2%. Twenty-five pregnant women were NTD high-risk, and their positive rate was 0. 3%. B-mode ultrasound identified 6 fetal malformations and 2 fetal deaths ( positive rate of 32. 0%). In high-risk or low-risk group, there were 25. 6%and 7. 7%subjects developed adverse outcome, respectively(P＜0. 05). Our findings suggested that maternal serum screen is an effective prediction factor for fetal abnormal chromosome and NTD.