bluuebunny/crossref_metadata_2025_split huggingface dataset:
The Role of Inferior Turbinate Fracture in the Management of Congenital Nasolacrimal Duct Obstruction
Authors: Rajabi Mohammad Taher , Inanloo Bahman , Salabati Mirataollah , Rafizadeh Mohsen , Tabatabaie Seyed Ziaeddin , Bayat Reza , Mahmoudzadeh Raziyeh 
Published: October 2018

Purpose:
To evaluate the effect of inferior turbinate fracture in the treatment of congenital nasolacrimal obstruction combined with first attempt probing in children younger than 36 months.

Methods:
This prospective case–control study was conducted on 230 eyes from 176 children aged 12 to 36 months with congenital nasolacrimal duct obstruction. All patients underwent simple probing under general anesthesia. Inferior turbinate fracture was performed in case group combined with first probing. Patients were followed up 1, 3, and 6 months after surgery.

Results:
Total success rate was 91.2% for patients with turbinate fracture and 86.4% for patients without turbinate fracture. The difference between success rates was not statistically significant (p = 0.269). The authors did not find significant difference between cases and controls in age subgroups. Success rate in combined case and control groups in patients younger than 24 months (success rate: 91.7%) was significantly higher than those older than 24 months (success rate: 71.9%; p = 0.001). In univariate logistic regression analysis, age ≥24 months showed a negative association with the success rate (odds ratio = 0.232; 95% confidence interval: 0.91–0.59; p = 0.002). Other factors like sex, bilaterality of nasolacrimal duct obstruction, method of probing were not significantly associated with response to treatment.

Conclusions:
Inferior turbinate fracture does not improve the outcomes of simple probing and is not recommended during the first attempt in treatment of congenital nasolacrimal duct obstruction. Late probing (after 24 months of age) may have a higher failure rate, and increased age is the important factor that predicts failure in probing simple congenital nasolacrimal duct obstruction.
Eleven Years of Clozapine Experience in Autism Spectrum Disorder
Authors: Rothärmel Maud , Szymoniak Fanny , Pollet Charlotte , Beherec Laurène , Quesada Pierre , Leclerc Sophie , Belhaine Amina , Rosier Antoine , Guillin Olivier 
Published: October 2018

Abstract

Background
Autism spectrum disorders (ASDs) are neurodevelopmental disorders that comprise wide graduated clinical expressions but similar core symptoms (repetitive, stereotyped behavior, and social communication disabilities). Many patients with ASD have disruptive behaviors like aggressiveness, temper tantrums, or self-injury that interfere with their socializations, their learning abilities, and their quality of life. These behaviors represent a common target for pharmacology. Beherec et al (J Clin Psychopharmacol. 2011;31:341–344) (first cohort), showed the efficacy of clozapine on disruptive behaviors in 6 patients with autism who were older than 16 years. The aim of this study was to assess the efficacy and tolerance of clozapine in a new cohort and the long-term effect in our first cohort.

Procedures
Concerning the replication study, we conducted a retrospective study of the changes of aggressive behaviors for all patients with ASD who were treated with clozapine from 2011 to 2017. Disruptive behaviors were monitored from 1 to 6 months before and after the initiation of the clozapine.

Results
All the patients of the first cohort were still on clozapine after an average of 11 + 2.6 years, with the same efficacy and no serious adverse effect was noted. For the replication study, 13 patients were included. Clozapine resulted in a significant decrease in the number of the days with aggression (65.2% + 32.6%). Once again, no serious adverse effect was notified. All the patients had a better quality of life.

Conclusions
Our study confirms that clozapine could be an efficacious and well-tolerated treatment for ASD patients with disruptive behaviors who do not respond to other antipsychotics on the long term.
Efficacy and safety of dupilumab for the treatment of moderate-to-severe atopic dermatitis in adults: A pooled analysis of two phase 2 clinical trials
Authors: Tofte Susan J. , Papp Kim , Sadick Neil , Bohnert Krista , Simpson Eric , Thaçi Diamant , Bieber Thomas , Blauvelt Andrew , Sofen Howard , Gooderham Melinda , Chen Zhen , Gadkari Abhijit , Eckert Laurent , Graham Neil M. H. , Pirozzi Gianluca , Ardeleanu Marius 
Published: October 2018

ABSTRACT

Background and purpose:
There is a need for new treatment options for moderate-to-severe atopic dermatitis (AD) in adults. Dupilumab, a fully human anti-interleukin-4 receptor α monoclonal antibody, has recently been approved for this indication.

Methods:
A pooled analysis of a phase 2a (NCT01548404) and a phase 2b (NCT01859988) study and a subanalysis of the 2b study evaluated the efficacy and safety of subcutaneous dupilumab 300 mg once weekly (qw) and every 2 weeks (q2w) in adults with moderate-to-severe AD.

Results:
Dupilumab significantly improved clinical outcomes in both analyses at week 12. Itch was significantly improved in the pooled analysis as measured by peak pruritus Numerical Rating Scale, 5-dimension pruritus scale, and SCORing Atopic Dermatitis (SCORAD) Visual Analog Scale (VAS) pruritus scores (all p < .0001 vs. placebo at week 12). Sleep loss was significantly improved (SCORAD VAS sleep loss score; p < .0001 vs. placebo at week 12); similar results were shown for the q2w dose. Dupilumab had an acceptable safety profile.

Conclusions:
Consistent with previous studies, dupilumab qw and q2w significantly improved signs and symptoms of AD at week 12, including improvements in itch and sleep loss.

Implications for practice:
Subcutaneous dupilumab is an effective new treatment option for adults with moderate-to-severe AD.
Environmental Sound Awareness in Experienced Cochlear Implant Users and Cochlear Implant Candidates
Authors: McMahon Kevin R. , Moberly Aaron C. , Shafiro Valeriy , Harris Michael S. 
Published: October 2018

Objective:
To determine if postlingually deaf adult cochlear implant (CI) users have better environmental sound awareness (ESA) compared with adult patients eligible for CIs who have not yet undergone implantation.

Study Design:
Cross-sectional cohort study.

Setting:
Tertiary referral center.

Patients:
A group of 39 postlingually deaf adult patients who are experienced CI users (ECI), and a group of 20 postlingually deaf adult patients who are cochlear implant candidates (CIC) awaiting implantation.

Intervention:
Cochlear implantation.

Main Outcome Measure:
Environmental sound awareness as measured by accuracy (percent correct) using the computerized, Familiar Environmental Sounds Test—Identification (FEST-I).

Results:
There was no significant difference between ESA in our sample of ECI users versus CIC patients. The ECI users scored an average FEST-I accuracy of 59.9% (SD 14.3). In comparison, the CICs had an average FEST-I accuracy of 54.7% (SD 26.4). This difference was not statistically significant.

Conclusions:
Our findings suggest that, despite the commonly held notion that improved ESA may be a benefit of cochlear implantation, our sample of ECI users did not demonstrate superior performance compared with CICs.
Associations of TCF7L2 gene polymorphisms with the risk of diabetic nephropathy
Authors: Zhuang Yan , Niu Fukun , Liu Defeng , Sun Juanjuan , Zhang Xiaowei , Zhang Jian , Guo Shuxia 
Published: October 2018

Abstract
The aim of the study was to explore the correlation between rs7903146 and rs290487 polymorphisms in transcription factor 7-like 2 (TCF7L2) gene and diabetic nephropathy (DN) in Chinese Han population.
Polymerase chain reaction–restriction fragment length polymorphism was used to determine genotypes of TCF7L2 polymorphisms in 90 patients with DN and 96 diabetes patients without DN. The linkage disequilibrium (LD) and haplotype analysis were performed with haploview software. Hardy–Weinberg equilibrium was assessed in the control group based on the genotype distributions of TCF7L2 polymorphisms. The genotype, allele, and haplotype distribution differences between the case and control groups were analyzed by chi-squared test, and odds ratio (OR) and 95% confidence interval (CI) were used to indicate the relative risk of DN.
People carrying TT genotype of rs7903146 were more easily to be attacked by DN than CC genotype carriers (P = .02, OR = 4.26, 95% CI = 1.12–16.24). Meanwhile, T allele also showed 1.85 times risk to suffer from DN compared with C allele (OR = 1.85, 95% CI = 1.02–3.10). However, there was no significant difference in genotypes and alleles frequencies of rs290487 between 2 groups. The strong LD existed between the 2 single nucleotide polymorphisms and haplotype T–T (rs7903146–rs290487) increased the susceptibility to DN (OR = 2.63, 95% CI = 1.31–5.25).

TCF7L2 rs7903146 polymorphism may be associated with the susceptibility to DN in Chinese Han population, but rs290487 is not. Additionally, haplotype is also a risk factor for DN.
Prognostic value of transcranial facial nerve motor-evoked potentials in predicting facial nerve function following cerebellopontine angle tumorectomy
Authors: Song Hongmei , Ma Chengyuan , Xu Dahai , Yu Mingxin , Feng Jiachun , Sun Lichao 
Published: October 2018

AbstractFacial nerve paralysis is a common complication following cerebellopontine angle (CPA) surgery. This study investigated the prognostic value of facial nerve motor-evoked potentials (FNMEPs) elicited by transcranial electrical stimulation for facial nerve outcome after CPA tumorectomy.A total of 95 patients were enrolled in this study between January 2014 and January 2016. All these patients underwent CPA tumorectomy (unilateral, n = 95; bilateral, n = 1). Intraoperative FNMEP elicited by transcranial electrical stimulation was recorded. The short- and long-term postoperative facial nerve functions were evaluated according to the House–Brackmann (HB) scale. The correlation between perioperative changes in the FNMEP stimulus threshold (delta FNMEP = postoperative stimulus threshold level–preoperative stimulus threshold level) and postoperative facial nerve functions were analyzed.On the first day postoperatively, the facial nerve function was HB grade I in 67, grade II in 17, grade III in 7, and grade IV in 5 facial nerves. One year postoperatively, the facial nerve function was grade I in 80, grade II in 11, grade III in 3, and grade IV in 2 facial nerves. The delta FNMEP was significantly correlated with the short- and long-term facial nerve function; receiver operating characteristic (ROC) curves yielded a cut-off delta FNMEP value of 30 V (sensitivity, 91.3%; specificity, 98.6%) and 75 V (sensitivity, 100%; specificity, 98.8%) for predicting short- and long-term facial nerve function damage, respectively.FNMEP elicited by transcranial electrical stimulation is an effective and safe approach for predicting facial nerve function in CPA tumorectomy. A high delta FNMEP is a potential indicator for the prediction of postoperative facial nerve damage.
Bidirectionality of the dentato-rubro-thalamo-cortical tract allows concurrent hypoperfusion in ipsilateral cerebellum and contralateral cerebral hemisphere
Authors: He Hsin-Chen , Hsu Ming-Chun , Hsu Chun-Sheng , Cheng Yuan-Yang , Chang Shin-Tsu 
Published: October 2018

Abstract

Rationale
The brain circulation of the dentato-rubro-thalamo-cortical tract (DRTT) has been reported for decade, but is rarely observed using nuclear medicine imaging tools, to analyze a patient with midbrain hemiatrophy syndrome. We present a case that revealed notable interruption in the middle of the DRTT. Finding out whether the superior cerebellar peduncle of the midbrain was injured was a decisive element for developing bidirectional effect of DRTT.

Patient concerns
A 34-year-old right-handed female presented with progressive weakness and bradykinesia in the left-sided limbs for about 6 months. She had difficulty with hand dexterity for activities of daily life and general tasks. She reported poor balance during walking and sitting. Muscle strength was 3 in the left hand and 4 in the foot due to atrophy of left limbs. The circumference of 10 cm proximally/distally from the lateral epicondyle of the humerus was 25.7/23.8 cm at right and 24.2/20.8 cm at left in the upper limbs, and 15 cm proximally/distally from the lateral joint space was 42.1/35.0 cm at right and 43/30.8 cm at left in the lower limbs. The brain magnetic resonance imaging study revealed a small-sized right midbrain.

Diagnosis
Based on the distinct features of limbs atrophy and the locations of the lesions on the magnetic resonance (MR) imaging, the patient was diagnosed with midbrain hemiatrophy syndrome.

Interventions
The patient was only willing to accept physical and occupational training programs at our outpatient clinic.

Outcomes
We utilized serial anatomic and functional neuroimaging of the brain to survey the neurologic deficit. Brain perfusion single-photon emission computed tomography (SPECT) showed hypoperfusion over the left fronto-parietal regions, left anterior temporal region, and left occipital region, and also the left striatum and right cerebellum. Symptoms were gradually recovered with rehabilitation, and he was transferred to a rehabilitation facility on hospital day 40.

Lessons
This is the first report to demonstrate concurrent hypoperfusion of ipsilateral cerebellum and contralateral cerebral hemisphere observed on SPECT images in a case of midbrain hemiatrophy syndrome. In our case, with midbrain hemiatrophy syndrome could be explained as mutual direction effect of DRTT.
Lethal neonatal mitochondrial phenotype caused by a novel polymerase subunit gamma mutation
Authors: AlJabri Mohamed F. , Kamal Naglaa M. , Halabi Abdulrahman , Korbi Haifa , Alsayyali Mashhour M.A. , Alzahrani Yahea A. 
Published: October 2018

Abstract

Rationale:
Polymerase subunit gamma (POLG) is a gene that codes for the catalytic subunit of the mitochondrial DNA polymerase, which is involved in the replication of mitochondrial DNA. Mutations in these genes are associated with a range of clinical syndromes characterized by secondary mtDNA defect including mtDNA mutation and mtDNA depletion which may culminate in complete failure of energy production (respiratory changes complex 1 defect) as in this case.

Patient concerns:
We herein report a full term Saudi female neonate born to consanguineous parents, who was noticed immediately after birth to have severe hypotonia, poor respiratory effort, and dysmorphic features. She had 3 siblings who died with same clinical scenario in neonatal period.

Diagnoses:
Molecular genetic testing revealed a novel compound heterozygous mutation of POLG gene c.680G>A (p.Arg227Gin) and c.3098C>T (p.Ala1033Val).

Interventions:
The patient remained in neonatal intensive care unit with multidisciplinary team management and was ventilator dependent until she passed away.

Outcomes:
The detected mutation had led to complete failure of energy production (respiratory changes complex 1 defect) until she died at the age of 5 months.

Lessons:
Mitochondrial respiratory chain defect should be considered in patients with severe neonatal hypotonia,encephalopathy, and respiratory failure especially in highly consanguineous population.
Magnetic resonance imaging of the fetal brain at 3 Tesla
Authors: da Silva Nivaldo Adolfo , Vassallo José , Sarian Luis Otávio , Cognard Christophe , Sevely Annick 
Published: October 2018

Abstract
To report our preliminary experience with cerebral fetal magnetic resonance imaging (MRI) with a 3 Tesla (3T) scanner. We assessed feasibility, time of acquisition, and possibility to establish a diagnosis.
Fifty-nine pregnant women had fetal MRI performed during the third trimester of pregnancy due to clinical or sonography concern of a central nervous system anomaly. No fetal or maternal sedation was used. The MRI protocol consisted of T2 turbo-spin-echo images in 3 planes of space. No T1-weighted images were performed. All images were analyzed by 2 pediatric neuroradiologists, who evaluated spatial resolution, artifacts, time of acquisition, and possibility to establish a diagnosis suspected by sonography.
Examinations were performed safely for all patients. The images required longer time of acquisition (approximately 75 seconds for each plane in the space). The specific absorption rate was not exceeded in any fetus. Cerebral fetal MRI was normal in 22 cases. The spectrum of diagnostics included isolated ventriculomegaly, posterior fossa malformation, corpus callosum malformation, gyration anomalies, craniosynostosis, tuberous sclerosis, microcephaly, external hydrocephaly, midline arachnoid cyst, cerebral lesions, and persistent hyperplastic primitive vitreous.
In our series, 3 T MRI of fetal brain was feasible and able to establish a diagnosis but required longer time of acquisition.
An observational study of the epidermal growth factor receptor-tyrosine kinase inhibitor resistance mechanism in epidermal growth factor receptor gene mutation-positive non-small cell lung cancer
Authors: Yoshimura Akihiro , Uchino Junji , Tanimura Keiko , Chihara Yusuke , Tamiya Nobuyo , Kaneko Yoshiko , Takeda Takayuki , Hiranuma Osamu , Hasegawa Isao , Kubota Yutaka , Shiotsu Shinsuke , Takumi Chieko , Hiraoka Noriya , Yamada Tadaaki , Takayama Koichi 
Published: October 2018

Abstract
Non-small cell lung cancer (NSCLC) patients with epidermal growth factor receptor (EGFR) mutation show a high response to EGFR-tyrosine kinase inhibitor (EGFR-TKI). Clinically, EGFR-positive NSCLC acquires several resistance mechanisms during EGFR-TKI treatment, such as the emergence of a secondary mutation (T790M), MET gene amplification, and transformation to small cell lung cancer. However, the mechanism of resistance to afatinib, a second-generation EGFR-TKI, remains unclear. In this study, we prospectively investigate the mechanism of resistance to afatinib using proteomic analyses.
In total, 35 EGFR-positive NSCLC patients of both sexes and ≥20 years old will be included. NSCLC patients with major obstacles in major organs, such as bone marrow, heart, lung, liver, and kidney, will be excluded. Eligible patients will be administered afatinib or gefitinib until disease progression and proteomic analysis will be performed with biopsy samples before treatment and at disease progression.
The primary outcome is to detect the potential predictive anomalies in proteins that can be candidates for the resistance factor of afatinib. The secondary outcome is to detect gene and protein abnormalities affecting progression-free survival, response rate, and rate of disease control in afatinib therapy.
The protocol was approved by the institutional review boards of Kyoto Prefectural University of Medicine and all the participating hospitals. Written informed consent was obtained from all patients before registration, in accordance with the Declaration of Helsinki. The results of the study will be disseminated via publications in peer-reviewed journals.
Trial registration number is UMIN000031013.
Primary total knee arthroplasty for complex supracondylar femoral fractures in patients with knee arthritis
Authors: Wang Wei , Yang Kun , Yang Pei , Song Dandan , Wang Chunsheng , Song Jinhui , Li Xiaohui , Wang Kunzheng 
Published: October 2018

Abstract
When elder arthritis patients suffered from complex supracondylar femoral fractures, their joints condition and general health condition elevate the difficulties in operation and post-surgical recovery.
Here, we aimed to simplify the operation procedure by using one-step Total Knee Arthroplasty (TKA) with a stemmed femoral implant. We also investigated if this method could improve the patients’ experience after the operation. The surgery including femoral osteotomy and implantation was performed on all fourteen patients by the same orthopedic specialist. The patients’ hospitalization time was recorded. The recovery of knee function and patient satisfaction was evaluated by a systematic follow-up with average time 38 months, up to 5 5 years, using Hospital for Special Surgery (HSS) knee scores, the range of motion (ROM), anteroposterior and lateral radiography, and Visual Analog Scale (VAS) scores. The average of hospitalization days was 16 days. No angular deformity, malunion, or shortening were found at radiography.
The average ROM was 105.2° at the end of the follow-up period. The knees in all the patients show adequate stability. All patients had returned to their former daily activities. Seventeen out of 24 patients were satisfied with the outcome of the surgery.
The usage of TKA with a stemmed femoral implant is a reasonable method for elderly patients suffering from supracondylar femoral fractures and concomitant knee arthritis.
Short bowel syndrome caused by laparoscopic loop enterostomy of the jejunum in an adult with undiagnosed intestinal malrotation
Authors: Hsu Yin-Chen , Hsu Li-Sheng , Huang Wen-Shih , Weng Jun-Cheng , Chen Chien-Wei 
Published: October 2018

Abstract

Rationale:
Failure to recognize intestinal malrotation in adults can cause complications during surgeries, especially those with a limited operative field. We report a case of short bowel syndrome caused by mistaken creation of a loop enterostomy in the jejunum due to undiagnosed intestinal malrotation.

Patient concerns:
A 72-year-old man underwent a laparoscopic right hemicolectomy and ileocolostomy because of complicated diverticulitis. Six days after the surgery, he received laparoscopic exploration because of anastomotic leak, and a laparoscopic loop ileostomy was also performed as a protective diversion stoma. One month after surgery, he complained of severe diarrhea from the enterostomy after food and water intake. An upper gastrointestinal and small bowel series revealed that the duodenojejunal junction (DJJ) did not cross the midline and there was a short distance between the DJJ and the enterostomy in the right lower quadrant.

Diagnoses:
Short bowel syndrome caused by mistaken creation of a loop enterostomy in the jejunum due to undiagnosed intestinal malrotation.

Interventions:
Total parental nutrition was used and the loop enterostomy was closed 3 months after the initial surgery.

Outcomes:
The patient was discharged uneventfully 2 weeks after the loop enterostomy.

Lessons:
Intestinal malrotation in adults is often encountered during routine radiological examinations. However, it may cause complications during surgery if ignored. Radiologists should keep in mind that complications may occur if a complete presurgical evaluation of intestinal malrotation is not performed, and surgeons should take caution when performing surgeries, especially those with a limited operative field.