ABSTRACT
Objective To explore the clinical features of methylmalonic acidemia (MMA) in children admitted to the pediatric intensive care unit, to help improve our understanding of MMA. Methods The clinical data of 21 patients with MMA admitted to our PICU from December 2012 to August 2016 were analyzed. Diagnosis were confirmed by gas chromatography-mass spectrometry, GC/MS. Results twenty-four of 158 suspected cases were confirmed as having organic acidemia diseases including 21 cases of MMA, one case of propionic acidemia, one case of urea cycle disorders, and one case of glutaric acidemia. The main clinical manifestations were feeding difficulty, malnutrition (13 cases), developmental retardation (12 cases), lethargy (10 cases), tricuspid severe reflux and pulmonary hypertension (1 case), hydrocephaly (5 cases), muscular dystonia (three cases with hypertonia, and four with hypotonia), convulsion (7 cases), apnea, sobbing respiration (10 cases), chromatosis (6 cases), anemia (13 cases), edema (6 cases), thrombocytopenia (6 cases), hematuria and proteinuria (2 cases). Five cases gave up therapy before diagnosis was made. Sixteen cases received the treatment with Vitamin B12 and supplementation of L-carnitine. Seven cases gave up after treatment without effect or deterioration of condition. Eight cases were vitamin B12-responsive, and one case was vitamin B12-nonresponsive. The follow-up for a period ranging from three months to two years, among eight vitamin B12-responsive cases, 6 cases showed a favorable outcome with apparent improvement, one case had no symptom and one patient died from severe pneumonia. Vitamin B12-nonresponsive case was still alive. Conclusions The clinical manifestations of MMA are non-specific. Urine organic acid analysis is critical to early diagnosis of MMA in high-risk patients. Timely diagnosis and appropriate long-term treatment are essential to improve the prognosis of the disease.
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Obgective To investigate the clinical effect of Adenine arabinoside monophosphate (Ara-A) on the treatment of infant cytomegalovirus hepatitis.Methods One hundred cases of infants with cytomegalovirus hepatitis in the Third Affiliated Hospital of Zhengzhou University from January 2012 to October 2013 were included and divided into 2 groups:Am-A group treated with Ara-A [a course of treatment lasting for 2 months included 10 mg/(kg · d) for first 2 weeks followed by 2 weeks' interval,and then resumed],and then control group was given ganciclovir [10 mg/(kg · d) for 14 days and 5 mg/(kg · d) for 1 week after 1 week's interval,for a total treatment period of 1.5 to 2.0 months].Both groups were given conventional therapy.Both before and after treatment,liver function,time of jaundice and transaminase back to normal,quantification of viral DNA returns to negative,side effects,hospitalization time and cost were also compared.Results After 2 weeks,alanine aminotramferase(ALT) in Ara-A group was significantly lower than that of the control group,and there was significant difference (P ＜0.05).After 2 months,ALT,aspartate transaminase in Ara-A group were significantly lower than those in the control group (all P ＜ 0.05).Time of transaminase back to normal [(38.5 ± 16.7) d] was significantly reduced compared with the control group [(44.3 ±22.9) d] (F =3.845,P ＜ 0.05).Time of jaundice back to normal [(27.1 ± 10.5) d],quantification of viral DNA back to negative [(39.5 ±24.0) d],hospitalization time [(22.6 ±5.8) d] and costs [(10 521.9 ±2 662.3) yuan] in Ara-A group had no significant difference compared with those of the control group (F =1.111,2.837,0.840,2.223,all P ＞ 0.05).The negative rate of viral DNA quantification in Ara-A group (80.9％) was higher than that of the control group (62.1％),and the liver injury rate (7.1％) was lower than that of the control group (15.5％),and the difference was statistically significant (x2 =9.137,11.514,all P ＜ 0.05).Condusion Ara-A is safe and effective for infant cytomegalovirus hepatitis and it is suitable for the clinical practice.
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OBJECTIVE@#To summarize the diagnostic and therapeutic experience of primary cricopharyngeal achalasia and introduce new operandi modus.@*METHOD@#Report the two cases we treated in 2008 and integrate published literature, and approach its diagnostic and therapeutic experience and make use of new operandi modus.@*RESULT@#The diagnosis of primary cricopharyngeal achalasia is difficult, and we must apply exclusive diagnosis according to the examinations of fibrolaryngoscopy, esophagoscopy and barium meal et al.@*CONCLUSION@#Surgical treatment is the best option. Partial resection of cricopharyngeal muscle and upper esophageal ring-shaped muscle is superior to simple cricopharyngeal myotomy.