Identifying a novel frameshift pathogenic variant in a Chinese family with neurofibromatosis type 1 and review of literature.

Aim: To detect the pathogenic gene variant in a family with neurofibromatosis type 1 (NF1).

Methods: This patient with NF1 was sequenced using target sequence capture and high-throughput sequencing technology. After detecting the suspicious pathogenic variant type, the pathogenic variant sites of the patient and the patient's family members were verified by multiple ligation dependent probe amplification and Sanger sequencing.

[Effects of CO concentration and soil water content on short-term water-use efficiency at whole-plant level].

Uncovering the variations of short-term water-use efficiency (WUE) at whole-plant level in response to CO concentration () and soil water content (SWC) can improve the understanding of plant survival strategies under climate change. In this study, saplings were cultured in simulated climate chambers.There were totally 15 treatments, including of 400 (), 600 () and 800 () μmol·mol and SWC of 35%-45% field water holding capacity (FC), 50%-60%FC, 60%-70%FC, 70%-80%FC and 95%-100%FC.

Facial reanimation with interposition nerve graft or masseter nerve transfer: a comparative retrospective study.

Both interposition nerve grafts and masseter nerve transfers have been successfully used for facial reanimation after irreversible injuries to the cranial portion of the facial nerve. However, no comparative study of these two procedures has yet been reported. In this two-site, two-arm, retrospective case review study, 32 patients were included.

[Long-term effect of oligodendrocyte precursor cell transplantation on a rat model of white matter injury in the preterm infant].

Objective: To investigate the long-term effect of oligodendrocyte precursor cell (OPC) transplantation on a rat model of white matter injury (WMI) in the preterm infant.

Methods: A total of 80 Sprague-Dawley rats aged 3 days were randomly divided into sham-operation group, model control group, 5-day ventricular/white matter transplantation group, 9-day ventricular/white matter transplantation group, 14-day ventricular/white matter transplantation group (n=10 each). All groups except the sham-operation group were treated with right common carotid artery ligation and hypoxia for 80 minutes to establish a rat model of WMI in the preterm infant.

Effects of combined alendronate and alfacalcidol on prevention of fractures in osteoporosis patients: a network meta-analysis.

Background: Published literatures report controversial results about the effect of combined treatment with alendronate and alfacalcidol for the prevention of fractures in osteoporosis patients.

Methods: Seven common databases were searched for related randomized controlled trials published up to April, 2015. Bayesian random effects network meta-analysis was used to assess the pairwise odds ratios (OR), 95% credible intervals (CI).

Diagnosis and treatment of cavernous hemangioma of the internal auditory canal.

Objective: Cavernous hemangioma of the internal auditory canal (IAC) is an extremely rare type of tumor, and only 50 cases have been reported in the literature prior to this study. The aim in this study was to describe the symptomatology, radiological features, and surgical outcomes for patients with cavernous hemangioma of the IAC and to discuss the diagnostic criteria and treatment strategy for the disease.

Methods: The study included 6 patients with cavernous hemangioma of the IAC.

Decision making in dissection range of temporal bone: refinements to enlarged translabyrinthine approach.

The aim of the study was to describe the refinements to the classic enlarged translabyrinthine approach (ETLA) by modifying the bony dissection range of temporal bone and to analyze the main outcomes achieved in a series of vestibular schwannoma (VS) cases submitted to microsurgery by ETLA. This was a retrospective study of 382 patients who underwent VS surgical removal via ETLA between January 2001 and December 2012. Among those cases, 332 were via classic ETLA, while 28 cases were via ETLA with blind sac technique and middle ear eradication and 22 via transotic approach.

The effect of obstructive sleep apnea syndrome on growth and development in nonobese children: a parallel study of twins.

Objective: To explore the effects of obstructive sleep apnea syndrome (OSAS) on children's growth by the study of identical twins.

Study Design: Seventeen cases of nonobese children with OSAS were included in this study. The control group was their identical twin sibling, who had no signs of OSAS.

P14ARF deficiency and its correlation with overexpression of p53/MDM2 in sporadic vestibular schwannomas.

Recent studies have shed considerable light into schwannomas. To date, only merlin has been identified as a hallmark or pathogenesis of both sporadic and NF2-related schwannomas. Here, we show, by immunoblot and immunohistochemical analyses of 58 sporadic vestibular schwannomas, that upregulation of p53 was observed in 90 % of tumors examined.

Facial and lower cranial nerve function preservation in lateral approach for craniocervical schwannomas.

The purpose of this study was to discuss surgical approach selection, surgical procedures, and treatment strategy for preservation of the facial and lower cranial nerve function in craniocervical schwannomas surgery. Between 2002 and 2011, 44 craniocervical schwannomas were operated in Xinhua hospital of Shanghai, China by the same surgical team. The records were reviewed retrospectively regarding clinical presentation, radiographic assessment, surgical approaches selection, surgical procedures and facial and lower cranial nerve follow-up outcomes.

[Facial nerve function and hearing preservation experience in middle fossa approach removal of small acoustic tumor surgery].

Objective: The aim of this study was to investigate the hearing and facial nerve preservation in the middle fossa approach surgery for the removal of small acoustic tumor (vestibular schwannomas, VS).

Methods: A prospective database was established, and data were retrospectively reviewed. Between January 2004 and February 2013, 13 patients with acoustic tumor underwent surgery via middle fossa approach for hearing preservation.

[Clinical effect of stem cell transplantation via hepatic artery in the treatment of type II hyperammonemia: a report on 6 cases].

This study aimed to investigate the clinical effect of transplantation of CD133⁺ peripheral blood stem cells or umbilical cord mesenchymal stem cells via the hepatic artery in children with type II hyperammonemia and its possible action mechanism. Umbilical cord mesenchymal stem cells were obtained by collecting cord blood (100-150 mL) from healthy fetuses and separating stem cell suspension (5 mL) from the cord blood by hydroxyethyl starch sedimentation. CD133⁺ peripheral blood stem cells were obtained by mobilizing peripheral blood from the fathers of sick children using recombinant human granulocyte colony-stimulating factor for 5 days, collecting mononuclear cells (120 mL), and separating out CD133⁺ cells by sorting.

[Transplantation of human neural precursor cells in the treatment of children with pervasive developmental disorder].

Objective: To assess the efficiency and safety of human neural progenitor cells (hNPCs) transplantation in the treatment of pervasive developmental disorder (PDD) in children.

Methods: Twenty-two children with PDD were treated, including 13 children with Rett syndrome and 9 children with autism. They accepted hNPCs transplantation voluntarily.

[Treatment of cerebral palsy with transplantation of human neural progenitor cells].

Objective: To study the clinical efficacy of transplantation of human neural progenitor cells (hNPCs) in the treatment of severe cerebral palsy (CP) in children.

Methods: Forty-five children with CP were voluntarily accepted transplantation of hNPCs. The cells obtained from the forebrain of 10 to 12-week-fetus were cultured and amplified into hNPCs.

Brain-derived neurotrophic factor stimulates proliferation and differentiation of neural stem cells, possibly by triggering the Wnt/β-catenin signaling pathway.

Brain-derived neurotrophic factor (BDNF) has critical functions in promoting survival, expansion, and differentiation of neural stem cells (NSCs), but its downstream regulation mechanism is still not fully understood. The role of BDNF in proliferation and differentiation of NSCs through Wnt/β-catenin signaling was studied via cell culture of cortical NSCs, Western blotting, immunocytochemistry, and TOPgal (Wnt reporter) analysis in mice. First, BDNF stimulated NSC proliferation dose dependently in cultured neurospheres that exhibited BrdU incorporation and neuronal and glial differentiation abilities.

[Treatment of newborns with severe injured brain with transplantation of human neural precursor cells].

Objective: To analyze the therapeutic effect of human neural precursor cells transplantation in treatment of neonates with severe brain injury.

Method: The transplantation was performed on 6 newborns, one of them was diagnosed as extremely severe carbon monoxide poisoning at 5(th) day after birth; one of them was diagnosed as severe hypoglycemia; the others had asphyxia at birth with Apgar scores from 1 to 3 and were diagnosed as severe neonatal asphyxia, severe hypoxic ischemic encephalopathy according to images, electroencephalogram, biochemical examination and clinical manifestation. With the approval of hospital ethics committee and informed consent of the family members, the newborns received human neural precursor cells transplantation at the 4(th) to 20(th) day after birth.

[Feasibility analysis and surgical highlight of cochlear implantation in infants under 12 months of age].

Objective: To explore feasibility and surgical highlight of cochlear implantation in infants under 12 months of age.

Methods: A retrospective review was performed in 14 infants under 12 months of age and 63 cases from 13 to 24 months of age with bilateral profound sensorineural hearing loss, who underwent unilateral cochlear implantation surgery. The operative parameters, including operation duration, amount of intraoperative bleeding, length of hospital stay, surgical complications and auditory outcomes, including warble tone average aided in free field, category of auditory performance (CAP), language behavior development quotient, babbling onset or spurt were recorded.

[Expression of S518 phosphorylated Merlin and its interaction with CD44 in vestibular schwannoma].

Objective: To investigate the impact of S518 phosphorylation in Merlin on the interaction with CD44 in vestibular schwannoma and the tumor growth.

Methods: Thirty-five samples of vestibular schwannoma were identified by pathology. Immunohistopathology and western blot were employed to analyze the expression and localization of S518 phosphorylated Merlin in the tumor tissues.

[Digital subtraction angiography on glomus jugularis tumors].

Objective: To analysis the effectiveness of preoperative digital subtraction angiography (DSA) on glomus jugularis tumors.

Methods: A retrospective study of 14 cases of glomus jugularis tumors which received preoperative DSA was carried out. Among them, 10 cases were accepted balloon occlusion test and selective embolization of supplied vessels.

[Diagnosis and treatment of chordoma in the jugular foramen area:three cases report].

Objective: To discuss the early diagnosis and the treatment of chordoma in the jugular foramen area.

Methods: Three cases of chordoma in the jugular foramen area were diagnosis and reviewed retrospectively. The initial symptom was facial paralysis.