RESUMO
BACKGROUND: Hereditary folate malabsorption is a rare, autosomal recessive disorder of proton-coupled folate transporter deficiency resulting in folate deficiency. Left untreated, the condition can cause severe brain damage and megaloblastic anemia, leading to progressive psychomotor retardation, seizures and other neurological problems. Early diagnosis and treatment are crucial. No case has been documented yet in Mainland China until now. METHODS: A Chinese girl affected by hereditary folate malabsorption was studied. The girl presented with recurrent megaloblastic anemia from the age of 7 months. Paroxysmal limbs trembling and seizures were presented from the age of three years. Intracranial calcification was noted by CT. At her age of 5 years, mental regression, lower-extremity weakness and sleeping problems were observed. Her plasma folate decreased to 4.49 nmol/L (normal control>6.8nmol/L). Plasma total homocysteine elevated to 28.11 µmol/L (normal control<15 µmol/L). Folate and 5-methylterahydrofolate in cerebrospinal fluid were significantly decreased to undetectable level. RESULTS: On SLC46A1 gene, a novel mutation, c.1A>T (M1L), and a reported mutation c.194-195 insG (p.Cys66LeufsX99) were identified, supported the diagnosis of hereditary folate malabsorption. Each parent carries one of two mutations. Folinic calcium supplement resulted in rapid clinical improvement. She is currently 6 years old with normal development and routine blood features. CONCLUSION: Hereditary folate malabsorption is one of the few easily-treatable inherited metabolic diseases. Measurements of folate and 5-methyltetrahydrofolate in cerebrospinal fluid are keys for the diagnosis of the patients.
Assuntos
Deficiência de Ácido Fólico/genética , Síndromes de Malabsorção/genética , Transportador de Folato Acoplado a Próton/genética , Idade de Início , Povo Asiático , Pré-Escolar , Feminino , Ácido Fólico/uso terapêutico , Deficiência de Ácido Fólico/complicações , Deficiência de Ácido Fólico/patologia , Humanos , Síndromes de Malabsorção/complicações , Síndromes de Malabsorção/patologia , Mutação Puntual , Convulsões/etiologiaRESUMO
AIM: To review and evaluate the efficacy of kidney-tonifying traditional Chinese medicine prescriptions (KT-TCMP) in hypoplastic uterus (HU) treatment. METHODS: We searched MEDLINE, the Cochrane Library, CNKI (China National Knowledge Infrastructure), WANFANG and VIP databases until 14 December 2013 independently with two investigators. Randomized controlled trials (RCT) involving KT-TCMP as a combined or monotherapy in the treatment of HU were reviewed and analyzed. Meta-analysis was performed by Review Manager (version 5.2). RESULTS: Nine RCT of 1745 patients were eligible for this review and meta-analysis, of which eight RCT described the primary outcome of clinical efficacy and three RCT drew the secondary outcome of uterine size. Meta-analyzed 'recovery' clinical efficacy of KT-TCMP in seven RCT was conducted which considered diethylstilbestrol therapy alone as control, as well as three RCT that meta-analyzed the effect of KT-TCMP on uterine diameter enlargement. As a result, KT-TCMP therapy had a significantly improved difference in increasing 'recovery' clinical efficacy (risk ratio, 2.34; 95% confidence interval [CI], 1.90-2.89) and enlarging the uterine diameter (standardized mean difference, 1.62; 95% CI, 1.39-1.84). One study reported adverse reactions as an important outcome and found it was safe during KT-TCMP therapy. CONCLUSION: The therapy of applying KT-TCMP as a combined or monotherapy in the treatment of HU may be more efficacious. However, these RCT were of moderate methodological quality and small sample size; thus, the results should be confirmed with more rigorously controlled further studies.
Assuntos
Transtornos do Desenvolvimento Sexual/tratamento farmacológico , Medicamentos de Ervas Chinesas/uso terapêutico , Fitoterapia , Doenças Uterinas/tratamento farmacológico , Útero/efeitos dos fármacos , Transtornos do Desenvolvimento Sexual/patologia , Medicamentos de Ervas Chinesas/efeitos adversos , Feminino , Humanos , Tamanho do Órgão/efeitos dos fármacos , Fitoterapia/efeitos adversos , Ensaios Clínicos Controlados Aleatórios como Assunto , Doenças Uterinas/congênito , Doenças Uterinas/patologia , Útero/anormalidades , Útero/patologiaRESUMO
An automated online gel permeation chromatography-gas chromatograph mass spectrometer (GPC-GC/MS) was developed for the rapid determination of residual pesticides in agricultural products. Pesticides were extracted from homogenized food samples with acetonitrile and decontaminated via the matrix solid-phase dispersion (MSPD) technique, using a primary secondary amine as sorbent prior to GPC-GC/MS analysis. A slightly modified preparation method and automated GPC step proved useful in minimizing matrix interference. To evaluate the performance of the system, 97 target pesticides were spiked at a concentration of 0.1mg/kg into a range of food types, including potato, cabbage, carrot, apple, orange, cucumber, and rice. A low flow rate of 0.1 mL/min in GPC resulted in a 40-fold reduction in solvent consumption compared with conventional GPC column applications. The combination of MSPD technique and GPC-GC/MS for the analysis of the 97 pesticides can be accomplished within 90 min. Most pesticides were recovered in the range of 70-120%, with relative standard deviation generally less than 10%. The results demonstrate that the method can be successfully applied with acceptable recoveries to a broad range of target pesticides within a diverse range of food types.