Subjective financial distress in cancer patients:a concept analysis / 现代临床护理

Objective To analyse the concept of subjective financial distress in cancer patients.Methods Papers in regarding the subjective financial distress were retrieved from the databases such as China National Knowledge Infrastructure(CNKI),Wangfang Database,PubMed,Cochrane Library,Web of Science,CINAHL,and Embase from the inceptions to 16th October,2022.Walker and Avant's concept analysis was performed to analyse the acquired articles.Results A total of 48 articles were retrieved and included in the study.Walker and Avant's concept analysis showed that the subjective financial distress in the patients was subject to the 3 defining attributes:perceived economic risk,coping behaviours,and negative emotional reactions.The antecedents of this distress included individual factors,disease and treatment factors,and social factors.The consequences of them were the increase in negative health behaviours and poorer quality of life.Conclusions The attributes,antecedents and consequences of subjective financial distress,as identified through the conceptual analysis,can serve as a reference for subsequent researches.In future studies,it would be beneficial by further exploring the connotation by considering China's healthcare system.

Surgical management of Dandy-Walker syndrome in infants and the literature review / 中国综合临床

Dandy-Walker syndrome is one of the posterior fossa malformations, which is easily confused with arachnoid cyst or cerebellar dysplasia in clinical practice, leading to misdiagnosis. Dandy-Walker syndrome is easy to be combined with hydrocephalus, resulting in increased intracranial pressure, increased head circumference, growth retardation, spastic hemiplegia and other manifestations, and can also be accompanied by other nervous system malformations. On February 27, 2021, a child with Dandy-Walker syndrome with growth retardation as the primary manifestation was admitted to Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine. After multiple surgical treatment, the child's hydrocephalus was significantly improved. Through the analysis of the clinical data of the child's operation and the treatment of complications, it is helpful to improve the clinicians' understanding of the surgical treatment of the disease.

An Open Label Pre and Post Test Clinical Evaluation of Efficacy of Tila Taila Abhyanga and Massage of Yoni in Cystocele with Special Reference to Chyuta Avastha of Vasti

Prolapse or downward displacement of pelvic organs especially vagina, uterus and rectum is a common and disabling condition among women of menopausal age group. It affects their quality of life also. Displacement of vaginal anterior compartment results in cystocele. Quoting Acharya Susruta reference, the aim of this study is to find the efficacy of Tila taila yoni Abhya?ga in Cyuta avastha of Vasti with respect to first degree cystocele. 30 subjects were selected satisfying inclusion and exclusion criterias with the approval of Institutional ethical committee. Clinical evaluation is done with the help of relevant subjective and objective parameters. The subjective parameters were assessed before and after the treatment for a period of one month with UDI questionnaire and objective parameter with Baden-Walker system of grading Pelvic Organ Prolapse. Three months follow-up evaluation was also done with same parameters. The Wilcoxon Signed Rank Test is used to statically decompose the clinical data. Subjective parameters showed improvement of the condition viz frequency and urgency of urination, urine leakage with and without any activity, cough, sneeze, small amount of urine leakage, difficult and incomplete bladder emptying, bulging in vagina However, leakage not related to urgency, lower abdominal pressure, painful urination and lower abdomen or genital area, pelvic area heaviness or dullness, pelvic discomfort and burning micturition showed only a little reduction with the treatment. Objective parameter is also highly statistically significant at p value < 0.001.

Management and Outcome of a Neurologically Intact Infant with Pierre Robin Sequence and Dandy-Walker Variant Diagnosed with Large Hemispheric Brain Abscess ­ Case Report

Pierre Robin sequence (PRS) is a condition consisting of three essential components: micrognathia or retrognathia, cleft palate, and glossoptosis. It can be part of multiple congenital anomalies. We present the case and outcome of a 3-month-old clinically stable patient who has PRS with Dandy-Walker variant ­ which is a rare presentation in the literature ­ with a large right hemispheric brain abscess, treated with multiple minimally-invasive surgical drainage procedures with adjuvant antibiotics.

Malformación de Dandy-Walker asociada a malformaciones extracraneales en un neonato / Dandy-Walker malformation associated with extracranial abnormalities in a newborn

La hidrocefalia es una condición clínica que consiste en un cúmulo de líquido cefalorraquídeo a nivel encefálico. Una de las causas, poco frecuente, es el síndrome de Dandy-Walker. Se presenta el caso de un recién nacido con diagnóstico prenatal de hidrocefalia secundaria a una malformación de Dandy-Walker y sospecha de genitales ambiguos. Tras el nacimiento, se confirma el diagnóstico prenatal de malformación de Dandy-Walker asociado a manifestaciones extracraneales poco frecuentes como hipospadias interescrotal y dilatación del seno coronario secundario a persistencia de la vena cava superior izquierda. Con este caso clínico queremos exponer la complejidad del síndrome de Dandy-Walker debido a sus múltiples asociaciones, que marcarán el pronóstico del paciente y la necesidad de tratamiento multidisciplinar.

Hydrocephalus is a clinical condition that consists of an accumulation of cerebrospinal fluid around the brain; Dandy-Walker syndrome is a rare cause of it. We present the case of a newborn with prenatal diagnose of hydrocephalus due to a Dandy-Walker malformation, as well as ambiguous genitalia. After birth, diagnosis of Dandy-Walker malformation associated with uncommon extracranial manifestations is confirmed. Specifically, the baby presents interscrotal hypospadias and coronary sinus dilatation due to the persistence of the left superior vena cava. With the exposition of this case, we bring out the complexity of the Dandy-Walker syndrome due to the malformations associated with it; the ones that will determine the prognosis and the need of a multidisciplinary treatment

Inhibitory Effects of Ligustrazine Plus Emodin on Expression of VEGF-related Factors in Ascites Carcinoma Walker-256 Cells / 中国实验方剂学杂志

Objective:To investigate the effects of ligustrazine combined with emodin on angiogenesis of ascites carcinoma Walker-256 cells by observing their inhibition against nuclear factor-<italic>κ</italic>B （NF-<italic>κ</italic>B）， hypoxia-inducible factor-1<italic>α</italic> （HIF-1<italic>α</italic>）， and vascular endothelial growth factor-C （VEGF-C） in HIF signaling pathway. Method:Fifty SD rats were randomly divided into sham operation group， model group， ligustrazine group， emodin group and ligustrazine combined with emodin group. Following the in situ injection of rat ascites carcinoma Walker-256 cells into the liver of normal rats， they were grouped and administered with ligustrazine （10 mg·kg^-1）， emodin （10 mg·kg^-1）， and ligustrazine （10 mg·kg^-1） plus emodin （10 mg·kg^-1） for seven days. Afterwards， the tumor-inoculated liver tissue was sampled from the experimental group and prepared into pathological sections for investigating tumor cell survival and VEGF expression. The <italic>in vitro</italic> hypoxia and hypoglycemia model （oxygen-glucose deprivation model）， hypoxia model， and hypoglycemia model of Walker-256 cells were constructed respectively. In the ligustrazine group， emodin group， and ligustrazine combined with emodin group， three consecutive concentrations that did not affect the proliferation of Walker-256 cells were selected for investigation. The drugs were administered before modeling， and the model treatment lasted for 4 h. The levels of HIF-1<italic>α</italic>， VEGF-C， and NF-<italic>κ</italic>B in the cell culture supernatant of each group were tested. Result:After the rat liver was inoculated with Walker-256 cells， the total liver mass was significantly increased（<italic>P</italic><0.05）， higher than that in the ligustrazine group， the emodin group， or the ligustrazine combined with emodin group（<italic>P</italic><0.05）. Histopathological examination showed that the response of VEGF expression in the liver tissue of each administration group was lower than that of the model group. At the cellular level， the levels of HIF-1<italic>α</italic>， VEGF-C， and NF-<italic>κ</italic>B in oxygen-glucose deprivation model of the ligustrazine group and the ligustrazine combined with emodin group were significantly reduced（<italic>P</italic><0.05）， exhibiting a certain dose-dependent response， followed by the reduction in the hypoxia model. The levels of HIF-1<italic>α</italic> and NF-<italic>κ</italic>B in the oxygen-glucose deprivation model and the hypoglycemia model of the emodin（1×10^-2，1×10^-3 mol·L^-1） group and the ligustrazine combined with emodin（1×10^-2，1×10^-3 mol·L^-1） group were significantly reduced， but there was no significant change in VEGF-C level of the hypoxia model of all the administration groups. Conclusion:Ligustrazine or emodin alone or their combination inhibits the abnormal increase in the weight of rat liver after inoculation with Walker-256 cells and the expression of VEGF in the liver tissue. Ligustrazine and emodin inhibit the protein expression of NF-<italic>κ</italic>B and HIF-1<italic>α</italic>， thereby reducing the gene and protein expression of metastasis-related target VEGF-A activated by HIF-1<italic>α</italic> transcription， restricting tumor cell neovascularization， and inhibiting the invasion and spread of ascites carcinoma cells. Among them， ligustrazine has the most significant effect against hypoxia. Glucose interferes with the effect of ligustrazine. The combination of ligustrazine with emodin is conducive to diminishing the intervention of glucose and stabilizing the inhibition against tumor cells.

Oil palm age and genotype interfere with defoliator lepidopteran infestation

The state of Pará has oil palm plantings of different ages and distinct genotypes. The understanding of which factors influence the occurrence and abundance of defoliating caterpillars in palm groves is paramount for control strategies based on integrated pest management (IPM). This study quantified the effect of oil palm age independently, and that of oil palm age and genotype, on the occurrence and abundance of defoliating caterpillars. Data were collected from 1994­2014 and consisted of counting the average number of caterpillars/leaf/parcel. For Opsiphanes invirae and Talima sp., leaf 17 was sampled; for Acharia spp., Euclea sp., Euprosterna elaeasa, Natada sp., and Automeris liberia, leaf 25 was sampled. For Oiketicus kirbyi, Antaeotricha sp., and Brassolis sophorae no specific leaf was considered. Palm trees were classified into three groups: young palm trees (0­8 years after planting), adult palm trees (9­19 years after planting), and old palm trees (over 20 years after planting). Talima sp. showed the highest population peak followed by O. invirae, Acharia spp., Elaeis elaeasa and Euclea sp. This study concludes that genotype has an impact on the infestation by defoliating caterpillars. Also, oil palms at reproductive age are more prone to higher infestation levels than young trees. While population levels of defoliating caterpillars are low in general, outbreaks are frequent. Importantly, intraspecific genotypes are more vulnerable than interspecific genotypes to infestations by defoliating caterpillars. This study contributes to the bioecological knowledge on defoliating caterpillars on oil palm and therefore provides important information to strengthen integrated pest management practices.

Genetic diagnosis of a fetus with Dandy-Walker syndrome / 中华医学遗传学杂志

Objective@#To explore the genetic basis for a fetus with Dandy-Walker malformation.@*Methods@#G-banding chromosomal karotyping, single nucleotide polymorphism microarray (SNP array) and fluorescence in situ hybridization (FISH) were carried out for the fetus. Chromosomal karyotyping and FISH assay were also carried out for both parents.@*Results@#SNP array has detected a 4266 kb microdeletion at 6p25.3p25.1 in the fetus, which was confirmed by FISH. FISH analysis of the parents demonstrated that the father has carried a cryptic t(6; 14)(p25.1; p13) translocation, while the fetus has a der(6)t(6; 14)(p25.1; p13) derived the paternal translocation.@*Conclusion@#The der(6)t(6; 14)(p25.1; p13) probably underlies the Dandy-Walker malformation in the fetus. The 6p25.3p25.1 microdeletion is due to unbalanced gametes produced by the father’s cryptic balanced translocation.

Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation

Walker Warburg syndrome (WWS) lies at the severe end of the spectrum of the congenital muscular dystrophies. WWS is a congenital disorder of the O-glycosylation that disrupts in the post-translation modification of dystroglycan proteins. WWS is characterized by the involvement of the central nervous system and rarely by multisystem involvement. Next-generation sequencing discovered that multiple genes are associated with this disorder. FKTN is the rarest cause of WWS. We describe a clinical-autopsy report of a molecularly- confirmed WWS case presenting with ventriculomegaly, agenesis of the corpus callosum with a novel phenotype of Dandy-Walker malformation and unilateral multi-cystic kidney. The whole-exome sequencing confirmed a homozygous variant (c.411C>A) in the FKTN gene with a premature termination codon. This case emphasizes the importance of detailed postnatal phenotyping through an autopsy in any pregnancy with antenatally identified malformations. Obstetricians, pediatricians as well as fetal medicine experts need to counsel the parents and focus on preserving the appropriate sample for genetic testing. WWS, though rare deserves testing especially in the presence of positive family history. Dandy-Walker malformation is a novel feature and expands the phenotypic spectrum.

Feedback Training Improves Accuracy Of Estimating Upper Extremity Weight Bearing During Functional Tasks – Implications After Open Heart Surgery

Background: Patients often need to use their arms to assist with functional activities, but after open heart surgery pushing with the arms is limited to minimize force across the healing sternum. Objectives: The main purposes of this study were to determine: 1) how accurately patients can estimate arm weight bearing with 10 lb or less of force and 2) if feedback training is effective for improving ability to estimate arm force and reduce pectoralis major muscle contraction during functional activities. Materials and Methods: An instrumented walker was used to measure arm force during functional mobility tasks including walker ambulation and sit-stand transfers. Pectoralis major muscle electromyography (EMG) activity was measured simultaneously in study participants (n = 21). After baseline testing, study participants underwent a brief session of visual and auditory concurrent feedback training. Data analyses included t-tests, ANOVA, and Pearson correlations (P<0.05). Results: Results showed that self-selected arm force was greater than 10 lb for all tasks (11.7-19.0 lb) but after feedback training, it was significantly lower (8.3-9.8 lb). During most trials (67%), study participants used more than 12 lb of arm force. Pectoralis major muscle EMG values were less than 10% of maximal voluntary contractions and were reduced (2.7-3.3%) after feedback training. Conclusions: Results indicate that patients may not be able to accurately estimate upper extremity force used during weight bearing activities, and that visual and auditory feedback improves accuracy. Activation of the pectoralis major muscle during arm weight bearing is minimal, suggesting minor force occurs across the sternum. An instrumented walker and feedback training appear to be very clinically useful for patients recovering from open heart surgery.

Gastric toxicity of Alendronate and Methotrexate in Walker 256 carcinosarcoma jaw model / Toxicidade gástrica de Alendronato e Metotrexato em modelo de carcinossarcoma de Walker 256 em mandíbula

Introduction: Experimental animal models represent a key tool used to elucidate the mechanisms of action and toxicity of anticancer drugs. Objective: The purpose was to establish a correlation of neoplastic growth with the combinatorial therapeutic application of sodium alendronate (ALD) and methotrexate (MTX), and to evaluate the gastrointestinal toxicity of these drugs, in the rat Walker 256 carcinosarcoma inoculation model. Methods: Female rats were selected and randomly distributed into 5 groups (n=10): negative control (NC), positive control (PC), MTX-treated group, ALD-treated group, and MTX-ALD-treated group (MTX/ALD). Tumor cells were inoculated as a suspension of 1x106cells/mL into the alveolar cavities produced by exodontia procedures. The following parameters were evaluated: body weight, tumor volume and percentage of tumor inhibition, and gastrointestinal toxicity. Results: The body weight variation was statistically significant between NC animals and PC animals, and between NC animals and ALD-treated group (p<0.01). Tumor volume variation was statistically significant between PC animals, MTX-treated group and MTX/ALD-co-treated group (p<0.05). Analysis of gastric toxicity of MTX-treated group reveled slight reduction of chief (Ch) and parietal (Pr) cellular populations; ALD-treated group exhibited gastric mucosa without histological alterations of Ch cells but intense reduction of Pr cellular population; and MTX/ALD-co-treated group presented reduction of Ch and Pr cellular populations. Conclusions: ALD does not elicit significant antitumor effects on Walker 256 carcinosarcoma cells and decreases antitumor effects of MTX due to toxicity on the gastric epithelium, which is intensified with MTX association.

Introdução: Modelos experimentais em animais representam um instrumento fundamental para elucidar os mecanismos de ação e toxicidade de drogas anticâncer. Objetivo: estabelecer uma correlação do crescimento neoplásico com a aplicação terapêutica combinatória de alendronato de sódio (ALD) e metotrexato (MTX), e avaliar a toxicidade gastrointestinal dessas drogas, no modelo de inoculação de carcinossarcoma de Walker 256 em ratos. Métodos: Ratas fêmeas foram selecionadas e distribuídas aleatoriamente em 5 grupos (n = 10): controle negativo (NC), controle positivo (PC), grupo tratado com MTX, grupo tratado com ALD e grupo tratado com MTX-ALD (MTX/ALD). As células tumorais foram inoculadas como uma suspensão de 1x106 células/mL nas cavidades alveolares produzidas por procedimentos de exodontia. Os seguintes parâmetros foram avaliados: peso corporal, volume tumoral e porcentagem de inibição tumoral e toxicidade gastrointestinal. Resultados: A variação do peso corporal foi estatisticamente significante entre animais NC e animais PC, e entre animais NC e grupo tratado com ALD (p <0,01). A variação do volume tumoral foi estatisticamente significativa entre animais PC, grupo tratado com MTX e grupo tratado com MTX / ALD (p <0,05). A análise da toxicidade gástrica do grupo tratado com MTX revelou uma ligeira redução das populações celulares principais (Ch) e parietais (Pr); o grupo tratado com ALD exibiu mucosa gástrica sem alterações histológicas de células Ch mas intensa redução da população celular Pr; e o grupo tratado com MTX / ALD apresentou redução das populações celulares Ch e Pr. Conclusões: O ALD não provoca efeitos antitumorais significativos nas células do carcinossarcoma Walker 256 e diminui os efeitos antitumorais do MTX devido à toxicidade no epitélio gástrico, que é intensificada com a associação MTX.

Ligneous conjunctivitis in a Dandy–Walker syndrome: A rare case report

Ligneous conjunctivitis (LC) is a rare form of pseudomembranous conjunctivitis seen in children, perhaps due to plasminogen deficiency, which manifest as a chronic refractory pseudomembranous conjunctivitis. LC cases are incapable in maintaining their fibrinolytic activity due to plasminogen deficiency; consequently, transudates of plasma assume as a thick, gelatinous, woody membranes over the mucosal surfaces. This is a short case report on a child with a LC, who presented with recurrent pseudomembranous conjunctivitis in conjunction with progressive congenital hydrocephalus due to aqueductal stenosis (Dandy–Walker syndrome). This rare association was clinically confirmed and prompt corrective surgical measures were instituted.

Increased Lower Limb Loading During Sit-to-Stand is Important for the Potential for Walking Progression in Ambulatory Individuals with Spinal Cord Injury

@#Background: Decreased rehabilitation time may increase the need for walking devices at the time of discharge to promote levels of independence among ambulatory individuals with spinal cord injury (SCI). However, using walking devices could create adverse effects on patients. This study explores the proportion of walking devices used, potential for walking progression, and associated factors among ambulatory individuals with SCI. Methods: Fifty-seven participants were assessed for their demographics and functional ability relating to the requirement for walking devices, including the Timed Up and Go Test (TUGT) and lower limb loading during sit-to-stand (LLL-STS). Results: Thirty-five participants (61%) used a walking device, particularly a standard walker, for daily walking. More than half of them (n = 23, 66%) had potential of walking progression (i.e., safely walk with a less-support device than the usual one). The ability of walking progression was significantly associated with a mild severity of injury, increased lower-limb muscle strength, decreased time to complete the TUGT, and, in particular, increased LLL-STS. Conclusion: A large proportion of ambulatory individuals with SCI have the potential for walking progression, which may increase their level of independence and minimise the appearance of disability. Strategies to promote LLL-STS are important for this progression.

Walker-256 Tumor: Experimental Model, Implantation Sites and Number of Cells for Ascitic and Solid Tumor Development

Abstract The Walker-256 tumor is an important experimental model that allow the development of therapies as the biological behavior of this tumor is similar that occur in humans. In front of the above considerations, the aim of this study was to describe the experimental model of Walker-256 tumor, identify the implantations sites as well as define a usual quantity of tumoral cells to induce the ascitic and solid tumor, according to the specialized literature. Were selected 45 articles using the keyword "Walker-256 tumor", free available. Were possible to observe that 58% (n=26) of the studies inoculate the tumor cells in the animals flank 33% (n = 15) in the tibia bone, 7% (n = 3) in the femur and 2% (n = 1) in the paw. The major quantitates of cells used were 8 x 107 (20%), 1 x 105 (13%), 1 x 106 (11%) and 2 x 107 (11%). After that, the site commonly used to inoculate was the flank and quantitate still a controversy, being 1x105 and 8x107 the concentrations more used.

Red propolis and L-lysine on angiogenesis and tumor growth in a new model of hamster cheek pouch inoculated with Walker 256 tumor cells / Própolis vermelha e L-lisina na angiogênese e no crescimento tumoral em novo modelo de bolsa jugal de hamster inoculada com células de tumor de Walker 256

ABSTRACT Objective: To evaluate the effect of red propolis and L-lysine on angiogenesis and tumor growth in a new model of hamster cheek pouch inoculated with Walker 256 tumor cells. Methods: The study consisted of two experiments with four groups each (total: 57 hamsters). In the experiment 1, the animals were inoculated with Walker tumor cells, followed by administration of test substances (red propolis 200mg/5mL/kg or L-lysine 150mg/kg) or control substances (gum arabic 5mL/kg or water 5mL/kg) for 10 days. The animals in the experiment 2 received red propolis, L-lysine, gum arabic or water at the same doses, for 33 days prior to inoculation of Walker tumor cells, followed by 10 days of treatment with the same substances. Based on single-plane images, angiogenesis was quantified (mean vascular area), in percentage, and tumor area (mm2) and perimeter (mm). Results: In the experiment 1, compared to animals receiving water, the mean vascular area expressed in percentage was significantly smaller in animal treated with propolis (p<0.05) and L-lysine (p<0.001). Conclusion: Both red propolis and L-lysine inhibited tumor angiogenesis in the new hamster cheek pouch model when administered after tumor inoculation.

RESUMO Objetivo: Avaliar o efeito da própolis vermelha e da L-lisina na angiogênese e no crescimento tumoral em novo modelo de bolsa jugal de hamster inoculada com células de tumor de Walker 256. Métodos: O estudo consistiu em dois experimentos com quatro grupos cada (total: 57 hamsters). No experimento 1, os animais foram inoculados com células de tumor de Walker, tendo em seguida administradas as substâncias teste (própolis vermelha 200mg/5mL/kg ou L-lisina 150mg/kg) ou controle (goma arábica 5mL/kg ou água 5mL/kg) por 10 dias. Os animais do experimento 2 receberam própolis vermelha, L-lisina, goma arábica ou água nas mesmas doses, por 33 dias antes do inóculo das células de tumor de Walker, seguido por 10 dias de tratamento com as mesmas substâncias. Baseado em imagens em plano único, foram quantificados a angiogênese (área vascular média), em termos percentuais, e a área (mm2) e o perímetro (mm) do tumor. Resultados: Comparada aos animais que receberam água, a área vascular média, expressa em percentagem, foi significativamente menor nos animais tratados com própolis (p<0,05) e com L-lisina (p<0,001). Conclusão: Tanto a própolis vermelha quanto a L-lisina inibiram a angiogênese no novo modelo de bolsa jugal de hamsters, quando administradas após a inoculação do tumor.

Cochlear implant in a child diagnosed with Dandy-Walker Syndrome Variant: a study case / Implante coclear em criança diagnosticada com Variante da Síndrome de Dandy-Walker: estudo de caso

ABSTRACT Dandy-Walker Syndrome Variant presents itself as a milder form of Dandy-Walker Syndrome, with less pronounced vermis hypoplasia, and hearing impairment is among its characteristics. This study aimed to report the case of a male patient aged 4.5 clinically diagnosed with Dandy-Walker Syndrome variant, a cochlear implant user, who was referred to rehabilitation services and followed up by a multidisciplinary team. The patient underwent therapy assisted by an audiologist/speech therapist and a physiotherapist between June 2016 and December 2016, totaling 20 sessions, with emphasis on the Aurioral approach. His evolution regarding hearing and motor abilities was evaluated through standardized instruments that helped to catalogue the patient's evolution and responses in an empirical way. The development of his auditory and motor skills, evaluated through standardized tests used as parameters of therapeutic evolution, demonstrated that rehabilitation, performed by a multi-professional team, can be satisfactorily applied in the management of cases where deafness does not appear as the only associated factor. It is suggested that a cochlear implant, despite the difficulties peculiar to the syndrome in question, can be an effective resource to acquire oral language and reach more complex stages related to hearing and language skills.

RESUMO A Variante da Síndrome de Dandy-Walker apresenta uma forma mais branda em relação à Síndrome de Dandy-Walker, sendo a hipoplasia do vermes menos acentuada e dentre suas características, a deficiência auditiva. O estudo objetivou relatar o caso de um paciente do sexo masculino, 4:5 anos, quadro compatível com Variante da Síndrome, usuário de implante coclear, referenciado ao serviço de reabilitação com equipe multidisciplinar. Foi inserido em terapia com fonoaudiólogo e fisioterapeuta, no período entre julho a dezembro de 2016, totalizando 20 sessões, com ênfase na abordagem Aurioral. Avaliou-se sua evolução quanto às habilidades auditivas e motoras, por meio de instrumentos padronizados que auxiliaram na catalogação da evolução e das respostas do paciente de maneira empírica. O desenvolvimento das habilidades auditivas e motoras, avaliadas por meio de testes utilizados como parâmetros de evolução terapêutica demonstraram que a reabilitação, realizada em equipe multiprofissional, pode ser aplicada satisfatoriamente no gerenciamento de casos em que a surdez não aparece como único fator. Sugere-se que o implante coclear, apesar das dificuldades peculiares à síndrome, pode ser um recurso eficiente para aquisição da linguagem oral e alcance de etapas mais complexas relacionadas às habilidades auditivas e de linguagem.

Efficacy of a Knee Walker for Foot and Ankle Patients: Comparative Study with an Axillary Crutch / 대한족부족관절학회지

PURPOSE: An axillary crutch is the most commonly used assistive device in foot and ankle patients who require nonweightbearing. On the other hand, its use frequently induces axillary or wrist pain and critical neurovascular injuries have been reported in several studies. This study compared the clinical outcomes of patients using the knee walker and axillary crutch. MATERIALS AND METHODS: A retrospective analysis was performed comparing the utility of a knee walker and axillary crutch as a nonweightbearing ambulatory aid for 62 foot and ankle patients treated between November 2016 and March 2018. A comparative study of the two orthosis could be performed because all the patients temporarily used an axillary crutch before or after the use of a knee walker. A demographic study and comparative analysis based on the visual analogue scale (VAS) satisfaction score (0~100), complications, and fall down history were evaluated. Furthermore, under the assumption of having retreatment, their preference of orthosis between the knee walker and axillary crutch was investigated. RESULTS: The mean age of the patients was 36.5 and the mean duration of ambulation with a knee walker and axillary crutch were 5.2 and 2.4 weeks. The VAS satisfaction score of the knee walker and crutch was 88.8 and 27.5, respectively (p < 0.05). The most frequent complications of the knee walker and crutch were ipsilateral knee pain (6 cases) and axillary or wrist pain (56 cases), respectively. No case of falling down occurred during knee walker ambulation, but there were two cases of crutch ambulation. Fifty-eight patients (93.5%) preferred the knee walker and four patients (6.5%) preferred a crutch. CONCLUSION: Compared to the axillary crutch, the knee walker afforded lower complication and higher satisfaction. Most patients preferred the knee walker to a crutch. Therefore, the knee walker is an efficient and safe orthosis for foot and ankle patients who require nonweightbearing.

Dandy-Walker Malformation with Refractory Epilepsy: Role of Radionuclide Scintigraphy in Assessing Ventriculo-Peritoneal Shunt Patency

@#Dandy-Walker malformation (DWM) is an uncommon congenital anomaly characterised by enlarged posterior fossa involving the cerebellum and fourth ventricle. Most of DWM patients with hydrocephalus require ventriculo-peritoneal shunt (VPS) especially in those with symptoms such as headache and seizures. In cases with worsening hydrocephalus although on VPS, computed tomography and magnetic resonance imaging can be performed to assess ventricular sizes, and an obstructed shunt may be confirmed with iodinated contrast media injection into shunt reservoir under fluoroscopy guidance. VPS scintigraphy is one of infrequently performed nuclear imaging studies that has the capability to assess shunt patency and detect site of blockage with minimal radiation exposure. We describe here a 32-year-old lady with underlying DWM and hydrocephalus on VPS complicated by refractory epilepsy. Radionuclide scintigraphy has proven to be a safe, simple and useful tool in evaluating shunt function and localising the site of VPS obstruction in this patient.

Prenatal diagnosis for Walker-Warburg syndrome by whole exome sequencing / 临床检验杂志

Objective To perform prenatal diagnosis for a fetus with hydrocephalus and congenital heart disease by whole exome se-quencing ( WES) , and then provide genetic counseling for the next pregnancy. Methods DNAs from amniotic fluid cells of the fetus and peripheral blood of his/her parents were extracted, respectively, and then performed WES. After the process of library construc-tion, hybrid capture and sequencing, the obtained data were compared with the database from human genome and literatures and ana-lyzed by software. The pathogenic mutations were searched based on the American College of Medical Genetics and Genomics ( ACMG, 2015) guideline and verified by the Sanger sequencing. Results The WES results found that the compound heterozygous mutations ex-isted in POMT1 gene of the fetus, which were inherited from the splice site mutation c.605+1G>A( IVS7) of his/her mother and the frameshift mutation c.1367 c.1368 ( exon 15) insGA, p. L456Lfs?80 of his/her father, respectively. The Sanger sequencing results were consistent with that of WES. The fetus was affected by Walker-Warburg syndrome, and his/her parents decided to terminate the pregnancy finally. Conclusion The WES may diagnose Walker-Warburg syndrome rapidly and accurately, which may play an impor-tant role in clinical management and genetic counseling.