bluuebunny/crossref_metadata_2025_split huggingface dataset:
Quantitative gait assessment in children with 16p11.2 syndrome
Authors: Goldman Sylvie , McCullough Aston K. , Young Sally Dunaway , Mueller Carly , Stahl Adrianna , Zoeller Audrey , Abbruzzese Laurel Daniels , Rao Ashwini K. , Montes Jacqueline 
Published: October 2019

Abstract

Background
Neurodevelopmental disorders such as 16p11.2 syndrome are frequently associated with motor impairments including locomotion. The lack of precise measures of gait, combined with the challenges inherent in studying children with neurodevelopmental disorders, hinders quantitative motor assessments. Gait and balance are quantifiable measures that may help to refine the motor phenotype in 16p11.2. The characterization of motor profile is useful to study the trajectories of locomotion performance of children with genetic variants and may provide insights into neural pathway dysfunction based on genotype/phenotype model.

Methods
Thirty-six children (21 probands with 16p11.2 deletion and duplication mutation and 15 unaffected siblings), with a mean age of 8.5 years (range 3.2–15.4) and 55% male, were enrolled. Of the probands, 23% (n = 6) had a confirmed diagnosis of autism spectrum disorder (ASD) and were all male. Gait assessments included 6-min walk test (6MWT), 10-m walk/run test (10MWR), timed-up-and-go test (TUG), and spatio-temporal measurements of preferred- and fast-paced walking. The Pediatric Evaluation of Disability Inventory-Computer Adaptive Tests (PEDI-CAT), a caregiver-reported functional assessment, was administered. Measures of balance were calculated using percent time in double support and base of support. Analyses of the six children with ASD were described separately.

Results
Thirty-six participants completed the protocol. Compared with sibling controls, probands had significantly lower scores on the 6MWT (p = 0.04), 10MWR (p = 0.01), and TUG (p = 0.005). Group differences were also identified in base of support (p = 0.003). Probands had significantly lower PEDI-CAT scores in all domains including the mobility scale (p < 0.001). Using age-matched subsamples, the ASD and non-ASD genetic variant groups had larger base of support compared to the controls. In the fast-paced condition, all participants increased their velocity, and there was a corresponding decrease in percent time in double support compared to the preferred-pace condition in all participants. Only the ASD group presented with upper limb arm/hand stereotypies.

Conclusions
Children with 16p11.2, with and without ASD, present with balance impairment during locomotion activities. Probands performed worse on functional assessments, and quantitative measures revealed differences in base of support. These results highlight the importance of using precise measures to differentiate motor dysfunction in children with neurodevelopmental disorders.
Lack of impact of nil-per-os (NPO) time on goal-directed fluid delivery in first case versus afternoon case starts: a retrospective cohort study
Authors: Field R. Ryan , Mai Tuan , Hanna Samouel , Harrington Brian , Calderon Michael-David , Rinehart Joseph 
Published: October 2019

AbstractBackgroundGoal Directed Fluid Therapy (GDFT) represents an objective fluid replacement algorithm. The effect of provider variability remains a confounder. Overhydration worsens perioperative morbidity and mortality; therefore, the impact of the calculated NPO deficit prior to the operating room may reach harm.MethodsA retrospective single-institution study analyzed patients at UC Irvine Medical Center main operating rooms from September 1, 2013 through September 1, 2015 receiving GDFT. The primary study question asked if GDFT suggested different fluid delivery after different NPO periods, while reducing inter-provider variability. We created two patient groups distinguished by 0715 surgical start time or start time after 1200. We analyzed fluid administration totals with either a 1:1 crystalloid to colloid ratio or a 3:1 ratio. We performed direct group-wise testing on total administered volume expressed as total ml, total ml/hr., and total ml/kg/hr. between the first case start (AM) and afternoon case (PM) groups. A linear regression model included all baseline covariates that differed between groups as well as plausible confounding factors for differing fluid needs. Finally, we combined all patients from both groups, and created NPO time to total administered fluid scatterplots to assess the effect of patient-reported NPO time on fluid administration.ResultsWhether reported by total administered volume or net fluid volume, and whether we expressed the sum as ml, ml/hr., or ml/kg/hr., the AM group received more fluid on average than the PM group in all cases. In the general linear models, for all significant independent variables evaluated, AM vs PM case start did not reach significance in both cases atp = 0.64 andp = 0.19, respectively. In scatterplots of NPO time to fluid volumes, absolute adjusted and unadjusted R2 values are < 0.01 for each plot, indicating virtually non-existent correlations between uncorrected NPO time and fluid volumes measured.ConclusionsThis study showed NPO periods do not influence a patient’s volume status just prior to presentation to the operating room for surgical intervention. We hope this data will influence the practice of providers routinely replacing calculated NPO period volume deficit; particularly with those presenting with later surgical case start times.
Sexual dysfunction and associated factors among patients with epilepsy at Amanuel Mental Specialty Hospital, Addis Ababa – Ethiopia
Authors: Ejigu Alem K. , Zewlde Kelemwa H. , Muluneh Niguse Y. , Seraj Zehara R. , GebreLibanos Mahlet W. , Bezabih Yodit H. 
Published: October 2019

Abstract

Background
Many patients with chronic illness have sexual dysfunction that may be related to the condition itself, drug side effects, emotional sequel, or a combination of those factors. Patients with epilepsy are no exception. Men and women with epilepsy are frequently complaining sexual dysfunction and they appear to have a higher incidence of sexual dysfunction than peoples with other chronic neurologic illness. These problems can have a substantial impact on their sexuality thus; it needs careful study and evaluation.

Methods
Hospital based cross sectional study was conducted from January to July, 2016 among Patient with Epilepsy at Amanuel Mental Specialty Hospital. Interviewer administered Changes in Sexual Functioning Questionnaire (CSFQ-14) was used in order to assess the sexual problems. Finally, the data was analyzed by using Statistical Package for Social Science (SPSS) V-20. Descriptive statistics and logistic regression were used to describe the variables. Levels of significance of association determined at < 0.05.

Results
A total of 694 respondents participated, with response rate 99.14%. Among them 576 completed all items. The result showed that 363 subjects (63.9, 95%CI = 59.5–67.7) had global sexual dysfunction. Furthermore, the rate of sexual dysfunction was reported as 55.6% (95%CI = 49.1–62.6) and 67.4% (95%CI = 62.8–72.1) in female and male participants, respectively. Among domains of sexual dysfunction; sexual arousal problem (97.8% (95%CI = 95.8–98.3)) and sexual pain problem (11.3% (95%CI = 8.8–13.9)) were the most and the least prevalent sexual dysfunctions respectively. Concerning associated factors; age grouped > 51, depression, being out of relationship or not satisfied with non-sexual aspect of relationship, being jobless and khat use has positive association with sexual dysfunction. By the other side alcohol use, level of education & age groups 18–21 years associated negatively.

Conclusions
The prevalence of sexual dysfunction among patients with epilepsy is very high; its prevalence is more among males than females. Sexual arousal problem and sexual pain problem were the most and the least prevalent sexual dysfunctions respectively.
Motor impairment in a rare form of spastic paraplegia (Spoan syndrome): a 10-year follow-up
Authors: Galvão Cláudia R. C. , Cavalcante Priscilla M. A. , Olinda Ricardo , Graciani Zodja , Zatz Mayana , Kok Fernando , Santos Silvana , Lancman Selma 
Published: October 2019

Abstract

Background
Spastic paraplegia, optic atrophy and neuropathy (Spoan syndrome) is an autosomal recessive disease with approximately 70 cases recorded in Brazil and Egypt.

Methods
This is a prospective longitudinal study performed with 47 patients affected with Spoan syndrome of seven communities of Rio Grande do Norte (Brazil) to investigate changes in motor function based on comparative data obtained from a 10-year follow-up.

Results
The mean age of the participants was 47.21 ± 12.42 years old, and the mean age at loss of ambulation and hand function were 10.78 ± 5.55 and 33.58 ± 17.47 years old, respectively. Spearman’s correlation analysis between the score on the Modified Barthel Index and the investigated variables evidenced statistical significance for age (p < 0.001) and right- and left-hand grip strength (p = 0.042 and p = 0.021, respectively). Statistical significance was not evidenced for the remainder of the variables, including age at onset of symptoms (p = 0.634), age at loss of ambulation (p = 0.664) and age at loss of hand function (p = 0.118).

Conclusions
Our analysis allows asserting that the participants exhibited slight dependence until age 35. The greatest losses occurred from ages 35 to 41, and starting at 50, practically all patients become completely dependent. These findings are relevant for determining the prognosis as well as suitable treatment, rehabilitation and assistive technology for these individuals.
Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report
Authors: Den Kouhei , Kudo Yosuke , Kato Mitsuhiro , Watanabe Kosuke , Doi Hiroshi , Tanaka Fumiaki , Oguni Hirokazu , Miyatake Satoko , Mizuguchi Takeshi , Takata Atsushi , Miyake Noriko , Mitsuhashi Satomi , Matsumoto Naomichi 
Published: October 2019

Abstract

Background
We encountered two unrelated individuals suffering from neurological disorders, including epilepsy and scoliosis.

Case presentation
Whole-exome sequencing identified the same recurrent, de novo, pathogenic variant in NUS1 [NM_138459.4:c.691 + 1C > A] in both individuals. This variant is located in the conserved cis-prenyltransferase domain of the nuclear undecaprenyl pyrophosphate synthase 1 gene (NUS1), which encodes the Nogo-B receptor, an essential catalyst for protein glycosylation. This variant was confirmed to create a new splice donor site, resulting in aberrant RNA splicing resulting in a 91-bp deletion in exon 3 in both individuals. The mutant mRNA was partially degraded by nonsense mediated mRNA decay. To date, only four de novo variants and one homozygous variant have been reported in NUS1, which cause developmental and epileptic encephalopathy, early onset Parkinson’s disease, and a congenital disorder of glycosylation. Seven patients, including our two patients, have presented with epileptic seizures and intellectual disabilities.

Conclusions
Our study strongly supports the finding that this recurrent, de novo, variant in NUS1 causes developmental and epileptic encephalopathy with involuntary movement, ataxia and scoliosis.
Factors associated with diarrhea and acute respiratory infection in children under two years of age in rural Bangladesh
Authors: Ullah Md Barkat , Mridha Malay K. , Arnold Charles D. , Matias Susana L. , Khan Md Showkat A. , Siddiqui Zakia , Hossain Mokbul , Paul Rina Rani , Dewey Kathryn G. 
Published: October 2019

Abstract

Background
Diarrhea and acute respiratory infection (ARI) are major causes of child mortality. We aimed to identify risk factors associated with diarrhea and ARI among children under 2 years of age in rural northern Bangladesh.

Method
We collected information on diarrhea and ARI in the previous 14 days and the previous 6 months at 6, 12, 18 and 24 months of age as part of a longitudinal, cluster randomized effectiveness trial, the Rang-Din Nutrition Study which enrolled 4011 pregnant women at ≤20 gestational weeks. Women and their children were followed up until 2 years postpartum. Information on household socioeconomic status, type of toilet, garbage disposal system, food insecurity, number of under-five children in the household, type of family, maternal characteristics and child characteristics was collected at baseline and/or at 6, 12, 18 and 24 months postpartum. Data on newborn health and feeding behaviors were collected within 72 h of delivery. Associations between potential risk factors and morbidity prevalence outcomes were assessed using logistic regression controlling for potential confounders.

Results
Out of 3664 live born children, we collected information from ~ 3350 children at 6, 12, 18 and 24 months of age. Diarrhea in the previous 14 days, and in the previous 6 months, was associated with maternal depression score and food insecurity; diarrhea in the previous 6 months was also associated with family type (nuclear vs. joint). ARI in the previous 14 days was associated with maternal depression score, type of toilet and garbage disposal, household food insecurity and sex. Cough or nasal discharge in the past 6 months was associated with maternal depression score, type of toilet and garbage disposal, household food insecurity, sex and perceived overall physical condition of the infant after birth.

Conclusion
Maternal depression and food insecurity appear to be important risk factors for diarrhea and respiratory infection among children under 2 years of age in this setting. These findings suggest that policies and programs that include strategies to address maternal mental health and household food insecurity may contribute to improved child health.

Trial registration
The trial was registered with the US National Institutes of Health at ClinicalTrials.gov, # NCT01715038, with registration completed October 26, 2012.
Prevalence of exclusive breastfeeding practice in the first six months of life and its determinants in Iran: a systematic review and meta-analysis
Authors: Behzadifar Meysam , Saki Mandana , Behzadifar Masoud , Mardani Mahnaz , Yari Fatemeh , Ebrahimzadeh Farzad , Majidi Mehr Hadis , Abdi Bastami Shadi , Bragazzi Nicola Luigi 
Published: October 2019

AbstractBackgroundExclusive breastfeeding (EBF) in the first 6 months of life is the best and most complete option for an infant, in that supplies the vitamins and minerals the baby needs. Several studies in Iran have been conducted concerning the prevalence of EBF. The aim of this study was to determine the prevalence of EBF in the first 6 months of life and associated factors in Iran synthesizing published studies.MethodsWe searched PubMed/MEDLINE, Embase, Scopus, ISI/Web of Science, the Cochrane Library, Directory of Open Access Journals Directory (DOAJ) and Google Scholar as well as Iranian databases (Barakathns, MagIran and the Scientific Information Database or SID) up to November 2018. The Newcastle-Ottawa Scale was used to assess the quality of studies. Analyses were performed by pooling together studies using DerSimonian-Laird random-effects model with 95% confidence interval. To test for heterogeneity, I2test was used. The Egger’s regression test and funnel plot were used to evaluate the publication bias. The strength of EBF determinants was assessed computing the Odds-ratios (OR) using the Mantel–Haenszel method.ResultsIn the initial search 725 records were found. Finally, 32 studies were selected based on inclusion/exclusion criteria. The sample size of studies varied between 50 and 63,071 subjects. The overall prevalence of EBF in Iran was 53% (CI 95%; 44–62). The OR for breastfeeding education received before pregnancy was 1.13 (0.94–1.36), for mother’s job 1.01 (0.81–1.27), for education level 1.12 (0.89–1.42), for type of delivery 1.16 (0.98–1.37), and for gender of child 1.03 (0.83–1.28).ConclusionIn Iran health policy- and decision-makers should try to take interventions that encourage mothers to use their milk to breastfeed the infants.
Hip dysplasia among children with spastic cerebral palsy in rural Bangladesh
Authors: Karim Tasneem , Al Imam Mahmudul Hassan , Golland Prue , Khan Aynul Islam , Hossain Iqbal , Smithers-Sheedy Hayley , Badawi Nadia , Muhit Mohammad , Khandaker Gulam 
Published: October 2019

Abstract

Background
Hip dysplasia is common among children with cerebral palsy (CP), particularly in spastic CP. It can result in pain, reduced function and quality of life. However, the burden of hip dysplasia among children with CP in llow-and middle-income countries (LMICs) like Bangladesh is unknown. We aimed to define the burden of hip dysplasia among children with spastic CP in Bangladesh.

Methods
This study includes a subset of the Bangladesh CP Register (BCPR) study cohort who were registered between January and March 2015. The BCPR is a population-based surveillance of children with CP (aged < 18 years) operating in a northern sub-district (Shahjadpur; child population ~ 226,114) of Bangladesh. Community-based key informant’s method (KIM) survey conducted to identify children with CP in the surveillance area. A diagnosis of CP was made based on clinical history and examination by the study physicians and physiotherapist. Study participants had an antero-posterior (AP) X-ray of their pelvis. The degree of subluxation was assessed by calculating the migration percentage (MP).

Results
During the study period, 196 children with CP were registered, 144 had spastic CP. 40 children with spastic CP (80 hips) had pelvic X-Rays (mean age 9.4 years, range 4.0–18.0 years) and 32.5% were female. Gross Motor Function Classification System (GMFCS) showed 37.5% (n = 15) with GMFCS level I-II and 62.5% (n = 25) with GMFCS level III-V. Twenty percent (n = 8) of the children had hip subluxation (MP: 33–80%). Osteopenic changes were found in 42.5% (n = 17) children.

Conclusions
To the best of our knowledge this is one of the first studies exploring hip dysplasia among children with spastic CP in Bangladesh. Our findings reflect that hip dysplasia is common among children with spastic CP. Introduction of hip surveillance programmes is imperative for prevention of secondary complications, reduced function and poor quality of life among these children.
The incidence of occult and missed surgical neck fractures in patients with isolated greater tuberosity fracture of the proximal humerus
Authors: Shaw Leo , Hong Chih-Kai , Kuan Fa-Chuan , Lin Cheng-Li , Wang Ping-Hui , Su Wei-Ren 
Published: October 2019

Abstract

Background
Occult and missed surgical neck fractures can be found in patients diagnosed with isolated greater tuberosity (GT) fracture during the follow up period. The purpose of this study was to retrospectively assess the incidence rate of occult and missed surgical neck fractures in those initially diagnosed with isolated GT fracture.

Methods
Records of patients diagnosed as having an isolated GT fracture were retrieved from a database in a medical center. Two senior orthopedic surgeons blindly reviewed all images of these patients three times to classify GT fracture types (split, avulsion and depression types), and recorded any surgical neck fractures found. Then a meeting was help to confirm the fracture types and presence of surgical neck fracture.

Results
Occult surgical neck fractures were found in 5 out of 68 (7.4%) patients, whereas missed surgical neck fractures were found in 3 out of 68 (4.4%) patients. In total, 32 patients had split type GT fracture, 32 had avulsion type and 4 had depression type. For those with occult surgical neck fractures, 7 had the split type GT fracture, while the remaining one had the avulsion type. Although the proportion of occult surgical neck fracture was higher in the split-type GT fracture (21.9%) than in the avulsion-type GT fracture (3.1%), the difference was not statistically significant (p = 0.056).

Conclusion
Occult humeral surgical neck fractures occurred in 7.4% of isolated greater tuberosity fractures after re-evaluation, while missed humeral surgical neck fractures occurred in 4.4%.
Characteristics of young and lower functioning patients following total knee arthroplasty: a retrospective study
Authors: Christensen Jesse C. , Kittelson Andrew J. , Loyd Brian J. , Himawan Michael A. , Thigpen Charles A. , Stevens-Lapsley Jennifer E. 
Published: October 2019

Abstract

Background
Rates of total knee arthroplasty (TKA) procedures in younger, more medically complex patients have dramatically increased over the last several decades. No study has examined categorization of lower and higher functioning subgroups within the TKA patient population. Our study aimed to determine preoperative characteristics of younger patients who are lower functioning following TKA.

Methods
Patients were categorized into higher and lower functioning subgroups defined using a median split of 1) postoperative Timed Up and Go (TUG) test times and 2) Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) physical function subscale scores. A split in age (65 years) was used to further classify patients into four categories: younger lower functioning, younger higher functioning, older lower functioning and older higher functioning. Measures from preoperative domains of health, psychological, physical performance and pain severity were examined for between-group differences.

Results
Comparing mean values, the younger lower functioning subgroup using the TUG had significantly weaker knee extensor, slower gait speed, higher body mass index and greater pain compared to other subgroups. The younger lower functioning subgroup using the WOMAC physical function subscale demonstrated higher pain levels and Coping Strategies Questionnaire-Catastrophizing Subscale scores compared to the older lower functioning subgroup.

Conclusions
Poorer preoperative physical performance and pain severity appear to have the largest influence on early postoperative TKA recovery in younger lower functioning patients relative to both younger and older higher functioning patients.
Anterior talofibular ligament lesion is associated with increased flat foot deformity but does not affect correction by lateral calcaneal lengthening
Authors: Wirth Stephan H. , Viehöfer Arnd F. , Singh Sarvpreet , Zimmermann Stefan M. , Götschi Tobias , Rigling Dominic , Jud Lukas 
Published: October 2019

AbstractBackgroundSeveral risk factors for adult acquired flatfoot deformity (AAFD) have been identified in literature. To this date, little attention has been paid to the lateral ligament complex and its influence on AAFD, although its anatomic course and anatomic studies suggest a restriction to flatfoot deformity. The aim of this study was to assess the influence of the anterior talofibular ligament (ATFL) on AAFD and on radiologic outcome following common operative correction by lateral calcaneal lengthening.MethodsWe reviewed all patients that underwent lateral calcaneal lengthening for correction of AAFD between January 2008 and July 2018 at our clinic. Patients were grouped according to the preoperative MRI findings into those with an intact ATFL and those with an injured ATFL. Two independent readers assessed common radiographic flatfoot parameters on preoperative and postoperative radiographs.ResultsSixty-four flatfoot corrections in 63 patients were included, whereby the ATFL was intact in 29 cases, and in 35 cases the ligament was injured. An ATFL lesion was overall radiologically associated with increased flatfoot deformity with a statistically significant difference between the two groups for preoperative talometatarsal-angle (p = 0.002), talocalcaneal-angle (p = 0.000) and talonavicular uncoverage-angle (p = 0.005). No difference between the two groups could be observed regarding the success of operative correction or operative consistency after lateral calcaneal lengthening.ConclusionThe ATFL seems to influence the extent of AAFD. In patients undergoing lateral calcaneal lengthening, the integrity of the ligament seems not to influence the degree of correction or the consistency of the postoperative result.