Acromicric dysplasia caused by a mutation of fibrillin 1 in a family: A case report.

BACKGROUND: Acromicric dysplasia (AD) is a rare skeletal dysplasia. Its incidence is < 1/1000000, and only approximately 60 cases are reported worldwide. It is a disease characterized by severe short stature, short hands and feet, facial abnormalities, normal intelligence, and bone abnormalities. Unlike other skeletal dysplasia, AD has a mild clinical phenotype, mainly characterized by short stature. Extensive endocrine examination has not revealed a potential cause. The clinical effect of growth hormone therapy is still uncertain. CASE SUMMARY: We report a clinical phenotype of AD associated with mutations in the fibrillin 1 (FBN1) (OMIM 102370) gene c.5183C>T (p. Ala1728Val) in three people from a Chinese family. A 4-year-old member of the family first visited the hospital because of slow growth and short stature for 2 years, but no abnormalities were found after a series of laboratory tests, echocardiography, pituitary magnetic resonance imaging, and ophthalmological examination. Recombinant human growth hormone (rhGH) was used to treat the patient for > 5 years. The efficacy of rhGH was apparent in the first year of treatment; the height increased from -3.64 standard deviation score (SDS) to -2.88 SDS, while the efficacy weakened from the second year. However, long-term follow-up is required to clarify the efficacy of rhGH. CONCLUSION: FBN1-related AD has genetic heterogeneity and/or clinical variability, which brings challenges to the evaluation of clinical treatment. rhGH is effective for treatment of AD, but long-term follow-up is needed to clarify the effect.

[Association between the inter-aural latency difference of brainstem auditory evoked potential wave V and neonatal hyperbilirubinemia].

OBJECTIVE: To study brainstem auditory evoked potential (BAEP) in neonates with hyperbilirubinemia using short auditory stimuli (60 dBnHL), and to investigate the differences in the inter-aural latency difference (ILD) of wave V between neonates with different total serum bilirubin (TSB) levels. METHODS: A prospective study was conducted in neonates with hyperbilirubinemia who were admitted to the Department of Neonatology, Yuhuan People's Hospital of Zhejiang Province, from May 2019 to October 2020. The neonates were divided into a severe group (n=50) and a mild group (n=50) according to their TSB levels. The mild group was divided into two subgroups: 7-10 days (n=20) and 11-14 days (n=20) according to their age. ILD was compared between the neonates with different TSB levels, and its diagnostic value was analyzed. RESULTS: Compared with the mild group, the severe group had significantly higher proportions of neonates with abnormal hearing threshold and abnormal ILD (P < 0.05) and a significantly larger ILD of wave V (P < 0.05). The latency of wave V (left ear) in the 7-10 days subgroup was significantly longer than that in the 11-14 days subgroup (P < 0.05), but there was no significant difference in the ILD of wave V between the two groups (P > 0.05). The receiver operating characteristic (ROC) analysis showed that ILD had predictive value for hearing impairment caused by neonatal hyperbilirubinemia (P < 0.05), with an area under the ROC curve of 0.727 as well as a sensitivity of 52.4% and a specificity of 90.9% at the optimal cut-off value of 0.365 ms. CONCLUSIONS: Serum bilirubin in neonates affects the ILD of BAEP wave V, especially in those with severe hyperbilirubinemia. ILD at the optimal cut-off value of ≥0.4 ms shows potential value in the diagnosis of hearing impairment caused by neonatal hyperbilirubinemia.

[Clinical effect of milkvetch extract oral liquid in preventing and treating children's recurrent respiratory tract infection].

OBJECTIVE: To explore and compare the clinical effects of three immuno-potentiators and their influence on immune function in preventing and treating recurrent respiratory tract infection (RRI). METHODS: Seventy-two children with RRT were assigned to three groups, the 23 patients in the M group treated with milkvetch extract oral liquid, the 23 in the P group treated by P-transfer factor and the 26 in the U group treated by Utilins injection. Clinical effect was compared among three groups after treatment, and changes of T cell subgroups as well as immune antibodies were detected before and after treatment. RESULTS: The markedly effective rate in the M, P, and U group was 69.6%, 65.2%, and 73.0% respectively, and the total effective rate 87.0%, 82.6%, and 92.3%, showing an insignificant difference among them (all P>0.05). After treatment, the levels of CD3+, CD4+ and CD4+/CD8+ rose obviously in the three groups (all P<0.05); levels of CD8+ in the M group and the P group lowered significantly (P<0.05, P<0.01), but with no significant difference among three groups in the changes of T cell subgroups (all P>0.05). Serum levels of IgG in all the three groups, IgA in the P group and the M group, and IgM in the M group and the U group rose significantly (P<0.05 or P<0.01), with statistical difference presented in comparing of IgA level in the P group with that in the other two groups (P<0.01). CONCLUSION: The clinical effects and the outcomes of immunological indexes' changing are similar in RRI patients treated by the three immuno-potentiators. They all can enhance the immunological function of the organism, strengthen the disease-resistant ability of patients, and reduce the incidence of RRI. Among them, the milkvetch extract oral liquid is worthy of spreading due to its lower cost, simple administration, exemption from painful injection, and good compliance.