[ ABSTRACT] AIM: To investigate the underlying genetic changes of a Chinese patient with infantile malignant osteopetrosis ( IMO) .IMO is a monogenic disease, mostly caused by mutations of TCIRG1 and CLCN7 genes.The former is believed a homozygous gene and only cause the disease in homozygous or compound heterozygous status.However, it has been reported that heterozygous mutations also cause the disease in 6 non-Chinese cases.METHODS:Genomic DNA was extracted from peripheral blood of the patient and his parents.All exons and splice sites of TCIRG1 and CLCN7 genes were amplified by PCR followed by Sanger sequencing.Mutation detection in the 2 genes was also investigated in the parents. Haplotypes were constructed by variations obtained in mutation detection and microsatillites flanking TCIRG1 gene in the family by Cyrillic.Chromosomal microarray analysis ( CMA) was performed to detect copy number variations ( CNV) of the patient and his mother.RESULTS:A novel mutation c.449_452delAGAG ( p.Gln149Glnfs16) was detected in the pa-tient.This mutation truncated 666 amino acids at the C terminal of the V-ATPase 116 kD isoform a3 protein.It wiped out the entire ATPase V0 complex and was predicted to result in total loss of protein function.This mutation was also detected in the patient’ s father.No pathogenic mutation was detected in CLCN7 gene.CMA did not reveal any CNV involving TCIRG1 or CLCN7 gene.CONCLUSION:We reported a novel heterozygous mutation of TCIRG1 gene causing IMO.This represents the first IMO case in China caused by heterozygous TCIRG1 gene mutation.

[Objective]To study the dental status,the development of jaw and the size of sella turcica of children with ectoder-mal dysplasia(ED).[Methods]Panaramic radiography and lateral cephalograms of six ED individuals(age range of 6~7 years,five males and one female)were obtained. The dental status was record. 17 measurements about the jaws and the sella turcica were mea-sured and compare them to Chinese children without ED syndrome.[Results]The mean number of missing teeth was 22.3 in perma-nent dentition and 16.2 in primary dentition;The teeth that most likely to absent were permanent lateral incisor ,maxillary first premo-lar,maxillary primary lateral incisor and mandibular primary central incisor,and all remaining teeth are in conical shape. Lateral cephalometric measurements showed that all ED subjects had lower ANS-Ptm,which suggested a short maxilla. Low Co-Po,ANB, NA-PA,N-Me,N-ANS and ANS-Me values that were found in all subjects,as well as low SNA,Y-axis,MP-FH,S-Co,and high SNB,NP-FH,NP-FH that were noted in some subjects showed counterclockwise rotation and protrusion of mandible with short-er length in ED subjects. Some subjects had low ANS-Me/N-Me × 100%and high N-ANS/N-Me × 100%,representing a short facial height. Five cases represented lower length and diameter of sella turcica;two cases showed lower depth of sella turcica ,indicating the abnormal development of sella turcica.[Conclusion]The results of this study suggest that the dentition ,jaws and sella turcica in ED children differs when compared to individuals without this syndrome.

Objective To explore the efficacy and safety of combined intravenous and intrathecal vancomycin in treatment of patients with intracranial infection after craniotomy. Methods Clinical data of a total of 60 consecutive patients with intracranial infections after cranial operation admitted to Department of Neurosurgery of Nanfang Hospital of Southern Medical University from June 1st 2013 to June 1st 2015 were retrospectively analyzed. The patients were divided into two groups: intravenous injection only (n = 25) and combined intravenous and intrathecal injection (n = 35). In both groups of patients intravenously given vancomycin hydrochloride 500 kU every 6 hours as well as third or fourth generation of cephalosporins or meropenem. In combined intravenous and intrathecal injection group, in addition to 20 mg vancomycin was slowly injected via lumbar puncture after release of cerebrospinal fluid (CSF) once a day. The clinical efficacy and complications of the two groups were compared. Results The recovery rate in the combined intravenous and intrathecal injection group was significantly higher than that in the intravenous injection only group (94.3% vs. 76.0%, χ2 = 4.220, P = 0.040). Lowering of white blood cell count in combined intravenous and intrathecal injection group was significantly earlier than that of the intravenous injection only group (time to become normal: 8 days vs. 13 days). The time of recovery in combined intravenous and intrathecal injection group was significantly shorter than that of the intravenous injection only group (days: 9.9±0.7 vs. 13.4±1.1, t = -2.716, P = 0.009). There were 3 patients who experienced nerve root irritation symptoms in combined intravenous and intrathecal injection group. Symptomatic treatment was given and injection speed was slowed down for these patients. There were no severe complications, such as coma, epilepsy or death in both groups. Conclusion Combined intravenous and intrathecal injection of vancomycin could be a safe and effective therapy for intracranial infection after craniotomy.

Cleidocranial dysplasia (CCD) is a rare congenital disorder, typically characterized by persistently open skull sutures, aplastic or hypoplastic clavicles, and supernumerary teeth. Mutations in the gene encoding the runt-related transcription factor 2 (RUNX2) protein are responsible for approximately two thirds of CCD patients. We report a 20-year-old CCD patient presenting not only with typical skeletal changes, but also complex dental anomalies. A previously undiagnosed odontoma, 14 supernumerary teeth, a cystic lesion, and previously unreported fused primary teeth were discovered on cone-beam computed tomography (CBCT) scans. Mutation analysis identified the causal c.578G>A (p.R193Q) mutation in the RUNX2 gene. At 20 years of age, the patient had already missed the optimal period for dental intervention. This report describes the complex dental anomalies in a belatedly diagnosed CCD patient, and emphasizes the significance of CBCT assessment for the detection of dental anomalies and the importance of early treatment to achieve good outcomes.
Clavicle ; Cleidocranial Dysplasia* ; Cone-Beam Computed Tomography ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Humans ; Odontoma ; Skull ; Sutures ; Tooth, Deciduous ; Tooth, Supernumerary ; Transcription Factors ; Young Adult

Objective This study compares a dual-freeze protocol with a triple freeze protocol for hepatic cryoablation in the Tibetan pig model.Method Cryoablation with a dual-(10-5-10-5 min)and triple-freeze (5-5-5-5-10-5 min) protocol for the normal livers of 9 Tibet pigs was performed under exposed operation.Temperature changes of cryoprobes and diameter changes of iceballs were measured during the ablation,and seven days later the pathological changes of cryozones were reviewed and the surface and depth cryolesions were measured.Results Compared with cryoablation with two freeze-thaw cycles,there was a greater iceball diameter for cryoablation by three freeze-thaw cycles.Also,seven days after cryosurgery,there were similar surface and deep cryolesions in dual-and triple-freeze protocols.Pathologically,the triple freezing protocol was associated with a longer zone of complete necrosis.Conclusions With the same freezing time (20 min),the triple-freeze protocol may become a more powerful liver-ablation method in cryosurgical application.