A case report of EIF2AK3-related Wolcott-Rallison syndrome and literature review / 中国当代儿科杂志

The patient was a female infant aged 1 month and 29 days. She was admitted to the hospital due to convulsions for 6 days and increased blood glucose level for 5 days. She had unstable blood glucose levels. The level of glycosylated hemoglobin was too high to measure. Urine glucose was positive (+ - ++++). The levels of fasting C-peptide and insulin were 0.19 ng/mL and 11.68 μIU/mL respectively. High-throughput sequencing of the genetic endocrine disease gene Panel (412 detected genes, including 49 known diabetes-related genes) showed that the EIF2AK3 gene in the infant had two novel compound heterozygous mutations, c.2731_2732delAG and c.2980G>A, both of which were located in the kinase domain. The infant was diagnosed with Wolcott-Rallison syndrome (WRS). As a rare autosomal recessive disease, WRS is characterized by neonatal diabetes, multiple epiphyseal dysphasia and liver disease. Neonatal diabetes is a prerequisite for the diagnosis of WRS. The EIF2AK3 gene is the pathogenic gene of WRS.

Changes in serum cortisol and adrenocorticotropic hormone in children with sepsis shock and their clinical significance / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the changes in serum levels of cortisol and adrenocorticotropic hormone (ACTH) in children with septic shock (SS) and to explore their relationship with the disease severity and prognosis.</p><p><b>METHODS</b>Twenty-five children with decompensated SS and 24 children with early SS were enrolled. Serum cortisol and ACTH levels were determined on admission and days 3 and 8 after admission. Twenty-five healthy children were used as the control group. The children with decompensated SS were further divided into death group (n=5) and survival group (n=20) based on their clinical outcome.</p><p><b>RESULTS</b>On admission, the decompensated SS and early SS groups had significantly higher serum cortisol and ACTH levels than the control group (P<0.05), and the decompensated SS group had significantly higher serum cortisol and ACTH levels than the early SS group. On day 3 after admission, the decompensated SS group had significantly higher serum cortisol and ACTH levels than the early SS and control groups (P<0.05), and the early SS group had a significantly higher serum ACTH level than the control group (P<0.05). Among the children with decompensated SS, the death group had significantly higher serum cortisol and ACTH levels than the survival group on admission (P<0.01); on day 3 after admission, the death group still had a significantly higher serum cortisol level than the survival group (P<0.01).</p><p><b>CONCLUSIONS</b>Children with SS have increased serum cortisol and ACTH levels, which are associated with the disease severity. A persistent high serum cortisol level indicates a poor prognosis. Dynamic monitoring of serum cortisol and ACTH levels in children with SS is of great significance in evaluating the disease severity and prognosis.</p>

Clinical research of chloasma treated with the meridian cosmetology and the impacts on estrogen and progestin / 中国针灸

<p><b>OBJECTIVE</b>To observe the efficacy difference between meridian cosmetology and western medicine in the treatment of chloasma and explore the impacts of meridian cosmetology on E2 and PRGE.</p><p><b>METHODS</b>Three hundreds cases of chloasma were randomized into a meridian cosmetology group and a western medication group according to the visit sequence, 150 cases in each one. In the meridian cosmetology group, the meridian regulation, acupuncture based on pattern/syndrome differentiation [at the body acupoints such as Qihai (CV 6), Xuehai (SP 10), Zusanli (ST 36), Sanyinjiao (SP 6), Ganshu (BL 18), Pishu (BL 20) and Shenshu (BL 23), etc.] and the local surrounding needling therapy on the chloasma skin lesion were adopted. In the western medication group, the oral administration of Vitamin C and E was prescribed for 3 months. The clinical efficacy was observed for the patients in the two groups. Additionally, 30 cases were collected from the meridian cosmetology group randomly for the detection of estrogen (E2) and progestin (PRGE) before and after treatment.</p><p><b>RESULTS</b>The effective rate in the meridian cosmetology group was 92.6% (126/136), which was superior to 67.0% (75/112) in the western medication group (P < 0.05). For the patients collected from the meridian cosmetology group, as compared with that before treatment, E2 level was decreased (P < 0.01) and PRGE level was increased (P < 0.05).</p><p><b>CONCLUSION</b>The meridian cosmetology achieves the superior efficacy as compared with the western medication group for the chloasma and it can regulate the levels of E2 and PRGE.</p>

Observation on therapeutic effect of acupoint catgut-embedding combined western medicine for epilepsy of generalized seizures type / 中国针灸

<p><b>OBJECTIVE</b>To compare the efficacy differences between acupoint catgut-embedding combined western medicine (ACCWM) and simple western medicine (WM) for treatment of epilepsy of generalized seizures type.</p><p><b>METHODS</b>Fifty-two patients with epilepsy of generalized seizures type were randomly divided into an ACCWM group (n=30) and a WM group (n=22). Dazhui (GV 14), Yaoshu (GV 2), Jiuwei (CV 15), Qihai (CV 6) were selected in the ACCWM group as the main acupoints combined with routine antiepileptic drugs, Valpromide was taken orally, 2.0 g/d for adult, 50 mg/kg x d for child. The WM group was treated with routine antiepileptic drugs. The epilepsy score and the attack frequency one year before the treatment and one year during treatment were observed and the therapeutic effects in the two groups were compared.</p><p><b>RESULTS</b>The epilepsy score and the attack frequency were both decreased in the two groups (P<0.01, P<0.05), and the epilepsy score in the ACCWM group decreased significantly (6.57 +/- 3.29 vs 10.73 +/- 2.54, P<0.05). The total effective rate of 90.0% (27/30) in the ACCWM group was superior to that of 68.2% (15/22) in the WM group (P<0.05).</p><p><b>CONCLUSION</b>The therapeutic effect of ACCWM is superior to that of simple western medicine in treating epilepsy of generalized seizures type. It can improve significantly the attack symptoms so as to enhance life quality of the patients with epilepsy.</p>