Objective To explore the diagnosis and treatment of biotinase deficiency (BTD) manifested as encephalomyelopathy.Methods The clinical data of one child with BTD were retrospectively analyzed.The pertinent literatures were reviewed.Results A six-year-old male child suffered from progressive spastic paralysis of lower limbs for 3 months before admission.A similar symptoms occurred after a cold in 3-year-old.It was easy to peel skin on her hands and she had angular stomatitis.Audio visual evoked potential was detected to be abnormal in other hospital.After hospitalizion,the cerebrospinal fluid examination was normal,and MRI showed long T1 long T2 signals bilateral occipital lobe and basal ganglia region.Because the child represented medulla palsy,and so the tracheal intubation ventilator was administrated to assist ventilation.Urine gas chromatography/mass spectrometry (GC/MS) analysis showed increases of lactic acid,3-hydroxy acid,3-tiglyl glycine,methylcitric acid,and ethylene lactic acid.Serum MS/MS analysis showed that the concentrations of propionyl camitine and 3-hydroxyisovaleryl carnitine were increase obviously.The serum biotinase level was significantly decrease to 0.076 pmol/(min·mm3).The diagnosis of BTD was confirmed.After supplementation biotin,40 mg/d,the ventilator was successfully weaned on the third day,the child walked again after 2 weeks,and the rash was vanished.After 3 weeks,the head MRI showed disappearance of the original lesion,and there was no abnormal in spinal cord.The BTD gene detected by PCR direct sequencing showed a heterozygosis mutation of T172T/C in the second exon and a homozygous mutation of T1413C in the fourth exon,which was confirmed as a pathogenic mutation by pedigree verification and database query.After discharge,the oral administration of biotin 20 mg/d continued,and no abnormality was found in 2 years of follow-up.Conclusions The manifestations of BTD are complex and diverse.The analysis of urine GC/MS and serum MS/MS can assist the diagnosis.The determination of biotinase activity and gene detection of BTD can further confirm the diagnosis.Timely biotin supplementation has significant treatment efficacy.

Objective To evaluate the effect of contrast-enhanced ultrasound(CEUS) in the real-time monitoring treatment of ultrasound-guided high intensity focused ultrasound (HIFU ) for uterine adenomyosis .Methods From January 2013 to September 2013 ,a total of 67 patients who were clinically diagnosticated as uterine adenomyosis were enrolled in this study .49 patients were diffuse type and 18 patients were localized .CEUS was used before ,in ,after ultrasonic treatment to make sure lesions and evaluate the ablation effect .Results 67 patients were 100% perfused before HIFU treatment by CEUS ,the non-perfused volume ratio of 15 patients(22 .4% ) were not enough during treatment ,and more energy were given .During HIFU treatment ,uniform grey scale change was observed in 42 of 67(62 .7% ) patients and massive grey scale change was observed in 25 of 67(37 .3% ) patients .The margin of targets and the non-perfused volume were clearly detected by CEUS .The size of target andymyosis ,the volume ,the non-perfused volume ,and non-perfused volume ratio were(4 .8 ± 1 .5)cm ,(63 .1 ± 57 .2)cm3 ,(59 .1 ± 53 .4 )cm3 ,(76 .4 ± 27 .0)% .The adverse effects occurred in the treatment were not related to CEUS .Conclusion CEUS is an accurate method in assessing the treat-ment effect of HIFU and could be safely used during HIFU treatment for uterine adenomyosis .

OBJECTIVE: To investigate the association of fetal cardiac structural abnormalities with chromosomal aneuploidies and copy number variations (CNVs) in amniocytes. METHODS: 328 pregnant women were subjected to fetal ultrasonography and chromosomal microarray analysis (CMA). Based on the fetal heart structure, the subjects were divided into normal (n=273) and abnormal groups (n=55). The detection rates of chromosomal aneuploidies and CNVs were compared between the two groups. Spearman method was used to assess the association between the results and fetal cardiac structural abnormalities. RESULTS: The detection rates for chromosomal aneuploidies and CNVs in the abnormal group were significantly higher than that in the normal group (P< 0.05), and the incidence of fetal cardiac structural abnormalities was strongly associated with chromosomal aneuploidies and CNVs (P< 0.05). CONCLUSION Fetal chromosomal aneuploidies and CNVs are strongly associated with cardiac structural abnormalities.
Aneuploidy ; Chromosome Aberrations ; DNA Copy Number Variations ; Female ; Fetus ; Humans ; Microarray Analysis ; Pregnancy ; Prenatal Diagnosis ; Ultrasonography, Prenatal