Considerations on the improvement of height benefit in children with central precocious puberty / 中国当代儿科杂志

With the changes in various factors such as genetics and the environment, the incidence of childhood precocious puberty has been gradually increasing. Improving height is one of the key issues in the clinical management of precocious puberty. Currently, gonadotropin-releasing hormone analogs (GnRHa) remain the preferred treatment for precocious puberty, but their effect on height improvement is influenced by multiple factors, which may result in lower-than-expected height benefits. Combining recombinant human growth hormone (rhGH) therapy with GnRHa treatment is an alternative strategy to enhance the efficacy of GnRHa, but there is still no clear recommendation regarding the timing of their combination. Considering the current status of precocious puberty treatment, it is crucial to reevaluate the effects of GnRHa monotherapy and combination therapy with rhGH on height improvement. This article discusses strategies such as combination therapy indications to guide clinical medication and help children with precocious puberty achieve optimal height benefits.

Otologic disorders and management strategies in Turner syndrome / 中华耳鼻咽喉头颈外科杂志

Objective: To analyze the incidence and risk factors of otologic disorders in patients with Turner syndrome (TS), so as to provide management strategies for ear health. Methods: This study is a prospective study based on questionnaires and a cross-sectional study. The TS patients who visited our hospital from 2010 January to 2021 March were included (A total of 71 patients with TS were included in this study. the age of TS diagnosed was 3- to 11-year-old, age of visiting ENT department was 4- to 27-year-old) and the incidence of otologic diseases in different age groups was investigated by questionnaires. The cross-sectional study included ear morphology and auditory function assessment, and further analysis of the risk factors that related to ear disease. Prism was used for data analysis. Results: The investigation found that the incidence of acute otitis media in patients aged 3-6 and 7-12 years was higher than that of patients over 12 years old, which was 33.8%(24/71), 42.9%(30/70)and 23.5%(8/34), respectively; 21.1% (15/71) of patients were recurrent acute otitis media in patients aged 3-6 years, and about 46.6% (7/15)of them persisted beyond 6-year. The prevalence of otitis media with effusion in the three groups was 32.4%(23/71), 34.3%(24/70)and 38.2%(13/34), respectively; the recurrence rate of tympanocentesis was 100%(7/7), 42.9%(3/7)and 50.0%(1/2), which was significantly higher than that of grommet insertion. For age groups of 3-6 and 7-12 years, the prevalence of acute otitis media and secretory otitis media was lower in the X chromosome structure abnormal patients; while for patients older than 12 years, otitis media with effusion was the highest prevalence in Y-chromosome-containing karyotypes. In addition, the prevalence of acute otitis media and otitis media with effusion in patients with other system diseases were increased significantly. A cross-sectional study found that 7.0% (5/71)of the lower auricular, 4.2% (3/71)of the external auditory canal narrow, and 38.0% (27/71)of the tympanic membrane abnormality. 35.2%(25/71) had abnormal hearing, including 17 cases of conductive deafness, 6 cases of sensorineural hearing loss, and 2 cases of mixed deafness. The rest of the patients had normal hearing, but 6 of them had abnormalities in otoacoustic emission. Eustachian tube function assessment found that the eustachian tube dysfunction accounted for 38%(27/71). Hearing loss and abnormal Eustachian tube function were not significantly related to karyotype(Chi-square 2.83 and 2.84,P value 0.418 and 0.417), but significantly related to other system diseases(Chi-square 13.43 and 7.53,P value<0.001). Conclusions: The incidence of TS-related otitis media and auditory dysfunction is significantly higher than that of the general population. It not only occurs in preschool girls, but also persists or develops after school age. Accompanied by other system diseases are risk factors for ear diseases. Clinicians should raise their awareness of TS-related ear diseases and incorporate ear health monitoring into routine diagnosis and treatment.

Clinical phenotypes and copy number variations in children with microdeletion and microduplication syndromes: an analysis of 50 cases / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the association between genotype and phenotype of microdeletion and microduplication syndromes (MMSs) and the pathogenesis of pathogenic copy number variations (CNVs).</p><p><b>METHODS</b>A total of 50 children with MMSs diagnosed by chromosomal microarray analysis (CMA) from June 2013 to September 2015 were enrolled, and the clinical manifestations and features of pathogenic CNVs were analyzed.</p><p><b>RESULTS</b>The main clinical manifestations of children with MMSs included mental retardation, developmental delay, short stature, and unusual facies, with the presence of abnormalities in multiple systems. There were 54 pathogenic CNVs in total, consisting of 36 microdeletion segments and 18 microduplication segments, with sizes ranging from 28 kb to 48.5 Mb (mean 13.86 Mb). Pathogenic CNVs often occurred in chromosomes X, 15, and 1.</p><p><b>CONCLUSIONS</b>The clinical manifestations of MMSs are not specific, and a genotype-first approach can be used for diagnosis. Mode of inheritance, type of recombination (deletion or duplication), size of segment, and functional genes included helps with the interpretation of CNVs of de novo mutations, and in-depth research on rare pathogenesis may become breakthrough points for the identification of new MMSs.</p>

Therapeutic effect of intravenous immunoglobulin and its mechanism on children with epilepsy / 中华神经医学杂志

Objective To explore the therapeutic effect of intravenous immunoglobulin(IVIG)on children with epilepsy and its mechanism to provide evidence for clinical application of IVIG into the management of children with epilepsy.Methods We retrospectively reviewed the data of 98 children with childhood-onset epilepsy treated with IVIG.Sixty-six health children were chosen as control group.The efficacy,tolerability,safety and serum immunological parameters of these patients were mainly evaluated and the serum immunologicla parameters,including T-1ymphocyte subsets and serum immunoglobulin,were detected by flow cytometry and immunoturbidimetry,respectively.Results The total effective rotes were 78.57%.Partial seizures-free rate(77.27%)and generalized seizures-free rate(79.63%)were not statistically different(P>0.05).The effective rate of symptomatic epilepsy (88.23%)and that of idiopathic epilepsy(68.09%)were significantly different(P<0.05).No significant difference of effective rates was found among the patients with new onset epilepsy having IVIG as first-line treatment(89.29%),the patients with monotherapy of MG after withdrawing AEDs(69.23%)and the patients with IVIG adjunct to other AEDs(75.43%,P>0.05).Thirty-one out of 45 patients with abnormal MRI on the brain showed improvement 6 months after treatment with IVIG.Thirteen patients had drug reactions,but could be tolerable for all these patients.Compared with the control group,epileptic groups showed significantly increased expressions of CD19~+B and CD20~+B cells and significantly decreased CD3~+CD4~+T cells.After the treatment with IVIG,epileptic groups showed significantly decreased expressions of CD19~+B and CD20~+B cells and significantly increased CD3~+CD4~+T cells as compared with the epileptic groups before the treatment.Three weeks and six months after the IVIG treatments,the level of serum IgG in the epileptic groups was significantly elevated as compared with that before treatment.Conclusion IVIG treatment,decreasing the expressions of CD19~+B and CD20~+B,is effective in treating patients with symptomatic epilepsy following immune disorders.

Twenty-One Cases of Type 1 Diabetes under 5 Years Old / 实用儿科临床杂志

Objective To explore the clinical characteristics and emergency treatment for type 1 diabetes(T1DM) and diabetes ketoacidosis(DKA) in children under 5 years old.Methods Twenty-one children under 5 years old with T1DM with 10 years were retrospecti-vely reviewed.The onset situation,clinical feature and treatment of DKA were analyzed.Results The cases of little children diabetes might not have typical symptoms.The positivity of islet antibody was lower.High morbidity of DKA was found in little children and DKA was often caused by infection.Conclusions Infection may be involved in the onset and progress of childhood T1DM.Emergency treatment for DKA may involve the injection of small dose insulin,correction of the disorder of water and electrolysis and regulation of acid-base.

McCune-Albright syndrome: a difficult and complicated case study / 中国当代儿科杂志

McCune-Albright syndrome is a rare G proteins alpha disorder. The disorder is characterized by polyostotic fibrous dysplasia, sexual precocity and hyperpigmented macules. It is caused due to mutations in the gene Gsalpha that incodes the alpha subunit of the trimeric guanosine triphate-binding protein. There is no specific treatment for this syndrome. Treatment is generally symptomatic. This paper reported three cases of McCune-Albright syndrome and reviewed the relevant literatures regarding to the pathogenesis, pathological features, diagnosis and treatment. All three cases presented with a characteristic triad: polyostotic fibrous dysplasia, sexual precocity and hyperpigmented macules and were thus definitely diagnosed with McCune-Albright syndrome.