Adolescent Gitelman syndrome:a case report and literature review / 中国综合临床

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.

Clinical and genetic analysis of two cases of Prader-Willi syndrome / 中国综合临床

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.

Risk factors analysis of recurrence of febrile seizures within 24 hours / 中国小儿急救医学

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.

Analysis of related factors of pleural effusion in children with Mycoplasma pneumoniae pneumonia / 中国小儿急救医学

Objective:To explore the related factors of pleural effusion in children with Mycoplasma pneumoniae pneumonia.Methods:The children with Mycoplasma pneumoniae pneumonia hospitalized in the Department of Pediatrics at Hebei General Hospital from October 2016 to February 2020 were divided into pleural effusion group and non-pleural effusion group according to the occurrence of pleural effusion.The general conditions and related examination results of two groups were compared, and the related indexes were further analyzed by multi-factor Logistic regression analysis, and the receiver operating characteristic curve was drawn to evaluate the predictive ability of Logistic regression model.Results:All of 174 children, there were 34 cases in pleural effusion group and 140 cases in non-pleural effusion group.There was no significant difference in sex and age between two groups( P<0.05). Univariate analysis showed significant differences in the presence or absence of mediastinal lymphadenopathy, C-reactive protein, procalcitonin, lactate dehydrogenase, serum ferritin and D-dimer between two groups( P<0.05). Multivariate Logistic regression analysis showed that mediastinal lymphadenopathy, lactate dehydrogenase level(>400 U/L), serum ferritin level(>100 ng/mL) and D-dimer level(>1.65 mg/L) were independent risk factors for pleural effusion in children with Mycoplasma pneumoniae pneumonia( OR=3.850, 4.393, 4.930, 6.790, P<0.05). The area under the receiver operating characteristic curve of Logistic regression model was 0.847, with medium to high diagnostic accuracy( P<0.001). Conclusion:When the children with Mycoplasma pneumoniae pneumonia have mediastinal lymphadenopathy, lactate dehydrogenase level >400 U/L, serum ferritin level >100 μg/L, D-dimer level >1.65 mg/L, we should be highly alert to the occurrence of pleural effusion.

Genetic analysis of a case of infant spinal muscular atrophy type 1c / 中国综合临床

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.

Research progress on the relationship between Klotho and the growth of children and newborns / 中国综合临床

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.

Progress of Angelman syndrome / 中国综合临床

Angelman syndrome is a neurodevelopmental disorder characterized by developmental delay, intellectual disability, dyskinesia, speech impairment, pleasant expression, epilepsy and abnormal electroencephalogram.The early symptoms of this disease are not typical, and attention should be paid to identification.In this article, the recent advances in clinical, ubiquitin-protein ligase E3A gene, genetic characteristics, genetic counseling and the treatment strategies of Angelman syndrome will be reviewed.

Clinical and genetic analysis of a girl infant with pyruvate dehydrogenase E1 α deficiency caused by PDHA1 mutation and literature review / 中国综合临床

Objective:To explore the clinical characteristics and genetic characteristics of gene mutation of pyruvate dehydrogenase E1α deficiency.Methods:The clinical and genetic characteristics of a rare girl infant with pyruvate dehydrogenase E1 α deficiency confirmed by Hebei General Hospital were retrospectively analyzed, and the literature was reviewed combined with the research progress of the disease.Results:The rare case of baby girl, early onset, psychomotor development is severely backward, persistent hyperlactic acid and hyperpyruvemia, metabolic acidosis, the head MRI shows septum pellucidum is small, interventricular septum is absent; fornix is unclear, splenium of corpus callosum is small and extruded forward like a canopy.The top of the third ventricle is elevated to the dorsal side, the left paracele enlarge to the right, the left interventricular foramen is obviously enlarged.Intermittent periods EEG: a large number of medium and high amplitude spike slow waves, slow waves, and a small amount of multiple spike slow waves are scattered or continuously distributed in the left posterior head (O1, T5). A large amount of low amplitude slow wave can be seen in the bilateral hemisphere.The second-generation gene sequencing found a heterozygous missense mutation of C>T (p.A169v) in the position of chrx-19371287 in the PDHA1 gene of the child, but not in the parent PDHA1 gene.And the diagnosis of pyruvate dehydrogenase E1 α deficiency was identifie.Conclusion:PDHAl mutation-induced pyruvate dehydrogenase E1 α deficiency lacks specificity at an early stage, and female patients are more rare due to random inactivation of the X chromosome.It is necessary to be vigilant against metabolic acidosis in children with unexplained psychomotor retardation, persistent hyperlactemia and difficult to correct.It can be diagnosed by gene analysis.