Search results for: rare disorders

Authors: Redrisse Djoumessi Fobasso, Baidyanath Sahu, Andre M. Strydom

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The R₂TX₃ (R = rare-earth, T = transition, and X = s and p block element) series of compounds are interesting owing to their fascinating structural and magnetic properties. In this present work, we have studied the magnetic and physical properties of the new Gd₂AgSi₃ polycrystalline compound. The sample was synthesized by the arc-melting method and confirmed to crystallize in the tetragonal α-ThSi₂-type crystal structure with space group I4/amd. Dc– and ac–magnetic susceptibility, specific heat, electrical resistivity, and magnetoresistance measurements were performed on the new compound. The structure provides a unique position in the unit cell for the magnetic trivalent Gd ion. Two magnetic phase transitions were consistently found in dc- and ac-magnetic susceptibility, heat capacity, and electrical resistivity at temperatures Tₙ₁ = 11 K and Tₙ₂ = 20 K, which is an indication of the complex magnetic behavior in this compound. The compound is found to be metamagnetic over a range of temperatures below and above Tₙ₁. From field-dependent electrical resistivity, it is confirmed that the compound shows unusual negative magnetoresistance in the antiferromagnetically ordered region. These results contribute to a better understanding of this class of materials.

Keywords: complex magnetic behavior, metamagnetic, negative magnetoresistance, two magnetic phase transitions

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Authors: Hema Lattupalli

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Introduction: The palate forms a partition between the oral cavity and nasal cavity. The palate is made up of two parts hard palate and soft palate. The Hard palate forms the anterior part of the palate, the soft palate forms a movable muscular fold covered by mucous membrane that is suspended from the posterior border of a hard palate. Aim and Objectives: Soft palate morphological variations have a great paucity in the literature. It’s also believed that the soft palate has no such important anatomical variations. There is a variable presentation of the soft palate morphology in the lateral cephalograms. The aim of this study is to identify the velar morphology. Materials and Methods: 100 normal subjects between the age group of 20 – 35 were taken for the study. Method: Lateral Cephalogram (radiologic study). Results: Different shapes of the soft palate were observed in the lateral cephalograms. The morphology of soft palate was classified into six types 1.Leaf like (50 cases) most common type, 2.Straight line (20 cases), 3.S shaped (4 cases) very rare, 4.Butt like (10 cases), 5. Rat tail (6 cases), 6. Hook shaped (10 cases). Conclusion: This classification helps us to understand the better diversity of the velar morphology in mid-sagittal plane. These findings help us to understand the etiology of OSAS.

Keywords: soft palate, cephalometric radiographs, morphology, cleft palate, obstructive sleep apnoea syndrome

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Authors: Suraj Kumar Mukti

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Enterprise Resource Planning (ERP) system is a management tool to integrate all departments in an organization. It integrates business processes, manages resources efficiently and provides an appropriate decision support system to management. ERP system implementation is a typical and time taking process as well as money consuming process. Articles related to key success factors of ERP system implementation are available in the literature, but rare authors have focused on roadmap of successful ERP system implementation. Postponement is better if the organization is not ready to implement ERP system in better way; hence checking of organization’s preparation to adopt new system is an important prerequisite to ensure the success of ERP system implementation in an organization. Then comes what will be called as success of ERP system implementation. Benefits achieved by ERP system may be categorized into two categories; viz. tangible and intangible benefits. This research article presents a roadmap to ensure the success of ERP system implementation and benefits achieved through the new system as in success indicator. A case study is presented to evaluate the success and benefit achieved through the new system. The article gives a comprehensive approach to academicians and a roadmap to the organizations seeking to implement the ERP system.

Keywords: ERP system, decision support system, tangible, intangible

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Authors: Alene Toulany, Elizabeth Dettmer, Seena Grewal, Kaley Roosen, Andrea Regina, Cathleen Steinegger, Kate Stadelman, Melissa Chambers, Lindsay Lochhead, Kelsey Gallagher, Alissa Steinberg, Andrea Leyser, Allison Lougheed, Jill Hamilton

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Obesity and psychiatric disorders occur together so frequently that the combination has been coined an epidemic within an epidemic. Youth living with obesity are at increased risk for trauma, depression, anxiety and disordered eating. Although symptoms of binge eating disorder are common in paediatric obesity management programs, they are often not identified or addressed within treatment. At The Hospital for Sick Children (SickKids), a tertiary care paediatric hospital in Toronto, Canada, adolescents with obesity are treated in an interdisciplinary outpatient clinic (1-2 hours/week). This intensity of care is simply not enough to help these extremely complex patients. Existing day treatment programs for eating, and psychiatric disorders are not well suited for patients with obesity. In order to address this identified care gap, a unique collaboration was formed between the obesity, psychiatry, and eating disorder programs at SickKids in 2015. The aim of this collaboration was to provide an enhanced treatment arm to our general psychiatry day hospital program that addresses both the mental health issues and the lifestyle challenges common to youth with obesity and binge eating. The program is currently in year-one of a two-year pilot project and is designed for a length of stay of approximately 6 months. All youth participate in daily group therapy, academics, and structured mealtimes. The groups are primarily skills-based and are informed by cognitive/dialectical behavioural therapies. Weekly family therapy and individual therapy, as well as weekly medical appointments with a psychiatrist and a nurse, are provided. Youth in the enhanced treatment arm also receive regular sessions with a dietitian to establish normalized eating behaviours and monthly multifamily meal sessions to address challenges related to behaviour change and mealtimes in the home. Outcomes that will be evaluated include measures of mental health, anthropometrics, metabolic status, and healthcare satisfaction. At the end of the two years, it is expected that we will have had about 16 youth participants. This model of care delivery will be the first of its kind in Canada and is expected to inform future paediatric treatment practices.

Keywords: adolescent, binge eating, mental illness, obesity

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Authors: Jenee Gooden, Kevin Vasquez-monterroso, Lady Paula Dejesus, Sandra Wainwright, Daniel Kim, Mackenzie Walker

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Introduction: Pyoderma gangrenosum (PG) is a rare, rapidly progressive, neutrophilic ulcerative colitis condition with an incidence of 3 to 10 cases per year ¹ ². Due to the similar appearance, PG is often misdiagnosed as a diabetic ulcer in diabetic patients. Though they may clinically appear similar in appearance, the treatment protocol and diagnostic criteria differ. Also, end-stage renal disease (ESRD) is often a condition seen in diabetic patients, which can have a significant impact on wound healing due to the wide range of uremic toxins³. This case study demonstrates a multidisciplinary team and multimodal treatment approach by podiatric surgery, general surgery, rheumatology, infectious disease, interventional cardiology, wound care and hyperbaric medicine for an uncontrolled diabetic with pyoderma gangrenosum of a significant circumferential wound, covering almost the entire right lower extremity. Methods:56 y.o male presents with multiple PG ulcerations, including the chest, right posterior lower extremity and sacrum. All ulcerations were previously managed by the same wound care specialist. His chief complaint was worsening PG ulcerations accompanied by a fever of 103 °F . This case study focuses on the wound to his RLE. Past medical history significant for diabetes mellitus type 2 with hemoglobin A1c of 10% and end stage renal disease (ESRD) on hemodialysis. A multidisciplinary team approach by podiatric surgery, general surgery, rheumatology, infectious disease, interventional cardiology, wound care and hyperbaric medicine was successfully used to perform right lower extremity limb salvage. The patient was managed by rheumatology for the continuation of prior medication, as well as the mutual agreement with wound care for the addition of dapsone. A coronary CT angiogram was performed by interventional cardiology, but no significant disease was noted, and no further vascular workup was necessary. Multiple surgical sharp wide excisional debridements with application of allografts and split thickness skin grafts for the circumferential ulceration that encompassed almost the entire right lower extremity were performed by both podiatric surgery and general surgery. Wound cultures and soft tissue biopsies were performed, and infectious disease managed antibiotic therapy. Hyperbaric oxygen therapy and wound vac therapy by wound care were also completed as adjunct management. Results: Prevention of leg amputation by limb salvage of the RLE was accomplished by a multidisciplinary team approach, with the wound size decreasing over a total of 29 weeks from 600 cm² to 12.0 x 3.5 x 0.2 cm. Our multidisciplinary team included podiatric surgery, general surgery, rheumatology, infectious disease, interventional cardiology, wound care and hyperbaric medicine. Discussion: Wound healing, in general, can have its challenges, and those challenges are only magnified when accompanied by multiple systemic illnesses. Though the negative impact of diabetes on wound healing is well known, the compound impact of being a diabetic with ESRD and having pyoderma gangrenosum is not. This case demonstrates the necessity for a multidisciplinary team approach with a wide array of treatment modalities to optimize wound healing and perform limb salvage with prevention of lower extremity amputation.

Keywords: diabetes, podiatry, pyoderma gangrenosum, end stage renal disease

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Authors: Yun-Shan Tsai, Si-Ping Lin, En-Chieh Lin, Xin-Hong Chen, Shin-Yun Ho, Shin-Hong Huang, Ching-ju Hsieh

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Background and significance: Uncorrected refractive errors and cataracts are the main visually debilitating ophthalmological abnormalities in adult participants with intellectual disability (ID). However, not all adult participants with ID may receive a regular and timely ophthalmological assessment. Consequently, some of the ocular diseases may not be diagnosed until late, thereby causing unnecessary ocular morbidity. In addition, recent clinical practice and researches have also suggested that eye-care services for this group are neglected. Purpose: To investigate the unmet need for eye care services, clinical characteristics of cataract, visual function, surgical outcome and prognostic predictors in adult participants with ID at Taipei City Hospital in Taiwan. Methods: This is a one-year prospective clinical study. We recruited about 120 eyes of 60 adult participants with ID who were received cataract surgery. Caregivers of all participants received a questionnaire on current eye care services. Clinical demographic data, such as age, gender, and associated systemic diseases or syndromes, were collected. All complete ophthalmologic examinations were performed 1 month preoperatively and 3 months postoperatively, including ocular biometry, visual function, refractive status, morphology of cataract, associated ocular features, anesthesia methods, surgical types, and complications. Morphology of cataract, visual and surgical outcome was analyzed. Results: A total of 60 participants with mean age 43.66 ± 13.94 years, including 59.02% male and 40.98% female, took part in comprehensive eye-care services. The prevalence of unmet need for eye care services was high (about 70%). About 50% of adult participants with ID have bilateral cataracts at the time of diagnosis. White cataracts were noted in about 30% of all adult participants with ID at the time of presentation. Associated ocular disorders were included myopic maculopathy (4.54%), corneal disorders (11.36%), nystagmus (20.45%), strabismus (38.64%) and glaucoma (2.27%). About 26.7% of adult participants with ID underwent extracapsular cataract extraction whereas a phacoemulsification was performed in 100% of eyes. Intraocular lens implantation was performed in all eyes. The most common postoperative complication was posterior capsular opacification (30%). The mean best-corrected visual acuity was significantly improved from preoperatively (mean log MAR 0.48 ± 0.22) to at 3 months postoperatively (mean log MAR 0.045 ± 0.22) (p < .05). Conclusions: Regular follow up will help address the need for eye-care services in participants with ID. A high incidence of bilateral cataracts, as well as white cataracts, was observed in adult participants with ID. Because of early diagnosis and early intervention of cataract, the visual and surgical outcomes of cataract are good, but the visual outcomes are suboptimal due to associated ocular comorbidities.

Keywords: adult participants with intellectual disability, cataract, cataract surgery

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Authors: Amlan Datta

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Dengue is an arboviral, vector borne infection, quite prevalent in tropical countries such as India. Approximately, 1 to 25% of cases may give rise to neurological complication, such as, seizure, delirium, Guillian-Barre syndrome (GBS), multiple cranial nerve palsies, intracranial thrombosis, stroke-like presentations, to name a few. Dengue fever, as an antecedent to GBS is uncommon, especially in adults.Here, we report a case about a middle aged lady who presented with an acute onset areflexic ascending type of polyradiculoneuropathy along with bilateral lower motor neuron type of facial nerve palsy, as well as abducens and motor component of trigeminal (V3) weakness. Her respiratory and neck muscles were spared. She had an established episode of dengue fever (NS1 and dengue IgM positive) 7 days prior to the weakness. Nerve conduction study revealed a demyelinating polyradiculopathy of both lower limbs and cerebrospinal fluid examination showed albuminocytological dissociation. She was treated with 5 days of intravenous immunoglobulin (IVIg), following which her limb weakness improved considerably. This case highlights GBS as a potential complication following dengue fever.

Keywords: areflexic, demyelinating, dengue, polyradiculoneuropathy

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Authors: R. G. D Jayawardena

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The Buddha was known by great wise men from 6th century B.C up to date as a superhuman being born in the world beyond the omnipotent. The Buddha’s doctrinal descriptions reflect his deep enlightenment about imperial and metaphysical knowledge. Buddhology undertaken for this study is an unexposed subject in metaphysical points. The Buddhist wall painting in Sri Lanka depicts deep metaphysical meaning than its simple perspective of estheticism. Buddhology, in some perspectives, has been interpreted as a complete natural science discovered by the Buddha to teach the way of honorable living in perfect happiness and peace of mind till death. Such interpretations which emphasized are based on textual studies. The Buddhology conducted through literal tradition is depicted in wall paintings in Sri Lanka are in visual art with specific techniques rules. The Buddhology, which is investigated on wall paintings, portrays the Buddha in the form of a superhuman being and as an unparalleled person among the Devas, Brahmas, Yakshas, Maras, and humans. The Buddha concept is known to Sri Lankan Buddhists as a person attained to full awakening of wisdom. In personality, the Buddha is depicted as a supernormal person in the world and a rare birth. In brief, the paper will discuss and illustrate the Buddha’s transcendental position and the reality of what he experienced and its authenticity.

Keywords: Buddhology, Metaphysic, Sri Lanka, paintings

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Authors: Valentina Zhang

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While facial expression is a complex and individualized behavior, all facial emotion recognition (FER) systems known to us rely on a single facial representation and are trained on universal data. We conjecture that: (i) different facial representations can provide different, sometimes complementing views of emotions; (ii) when employed collectively in a discussion group setting, they enable more accurate emotion reading which is highly desirable in autism care and other applications context sensitive to errors. In this paper, we first study FER using pixel-based DL vs semantics-based DL in the context of deepfake videos. Our experiment indicates that while the semantics-trained model performs better with articulated facial feature changes, the pixel-trained model outperforms on subtle or rare facial expressions. Armed with these findings, we have constructed an adaptive FER system learning from both types of models for dyadic or small interacting groups and further leveraging the synthesized group emotions as the ground truth for individualized FER training. Using a collection of group conversation videos, we demonstrate that FER accuracy and personalization can benefit from such an approach.

Keywords: neurodivergence care, facial emotion recognition, deep learning, ground truth for supervised learning

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Authors: Roihatul Mutiah, Sukardiman, Aty Widyawaruyanti

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Calotropis gigantiea (L.) R. Br (Apocynaceae) commonly called as “Biduri” or “giant milk weed” is a well-known weed to many cultures for treating various disorders. Several studies reported that C.gigantea roots has anticancer activity. The main aim of this research was to isolate and identify an active marker compound of C.gigantea roots for quality control purpose of its extract in the development as anticancer natural product. The isolation methods was bioactivity guided column chromatography, TLC, and HPLC. Evaluated anticancer activity of there substances using MTT assay methods. Identification structure active compound by UV, 1HNMR, 13CNMR, HMBC, HMQC spectral and other references. The result showed that the marker active compound was identical as Calotropin.

Keywords: calotropin, Calotropis gigantea, anticancer, marker active

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Authors: Meltem Nur Erdöl, Feyzanur Bayrak, Elif Emanetçi, Faik Nüzhet Oktar, Cevriye Kalkandelen, Oğuzhan Gündüz

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Nowadays, the bioceramic graft applications are very important due to the fact that especially European population is getting much older. Consequently, healing approaches for some health problems become more important in the near future. For instance, osteoporosis is one of the reasons for serious hip fractures. Beside these, the traffic accidents playing role increasing of various hip fractures and other bone fractures. Naturally all these are leading the importance developing new bioceramic graft materials. Hydroxyapatite (HA) is one of the leading bioceramics on the market. Beside the high biocompatibility HA bioceramics unfortunately are weak materials for loaded areas. For improvement mechanical properties of HA material, some oxides and metallic powders can be added. In this study, some rare earth oxides like hafnium (IV) oxide (HfO₂) and samarium (III) oxide (Sm₂O₃) are added to HA for improvement of their material characteristics. Thus, compression, microhardness and theoretical density tests are performed. X-ray diffraction patterns are also investigated corresponding x-ray diffraction equipment. At the end, studies of scanning electron microscope (SEM) and energy-dispersive x-ray spectroscopy (EDX) are completed. All values were compared with past BHA and various composites.

Keywords: biocomposite, hafnium oxide, hydroxyapatite, nanotechnology, samarium oxide

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Authors: Shafiq Alam, Yen Ning Lee

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Conventional hydrometallurgical processing of metals involves the use of large quantities of toxic chemicals. Realizing a need to develop sustainable technologies, extensive research studies are being carried out to recover and recycle base, precious and rare earth metals from their pregnant leach solutions (PLS) using green chemicals/biomaterials prepared from biomass wastes derived from agriculture, marine and forest resources. Our innovative research showed that bio-adsorbents prepared from such biomass wastes can effectively adsorb precious metals, especially gold after conversion of their functional groups in a very simple process. The highly effective ‘Adsorption-coupled-Reduction’ phenomenon witnessed appears promising for the potential use of this gold biosorption process in the mining industry. Proper management and effective use of biomass wastes as value added green chemicals will not only reduce the volume of wastes being generated every day in our society, but will also have a high-end value to the mining and mineral processing industries as those biomaterials would be cheap, but very selective for gold recovery/recycling from low grade ore, leach residue or e-wastes.

Keywords: biosorption, hydrometallurgy, gold, adsorption, reduction, biomass, sustainability

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Authors: Tianchen Dai

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Shantytowns are special historical products in china, possessing strong particularity and typicality, the theoretical value and the practical significance of which are deemed to hold great importance in the modern development of residential areas in China. The renovation planning of shantytowns can be very challenging in terms of cultural inheritance. The traditional lifestyle, one of the key elements building up residents’ perception of affiliation, should be carried forward in the renovation planning of shantytowns. Mobile vending can be considered as a rare business model survived within modern commercial environment, thanks to the unique spatial characteristics of Chinese shantytowns. This article mainly investigates the unique phenomenon of mobile vending in shantytowns, discussing the operating mechanism and rationality behind this commercial phenomenon. For humanistic concern, the innovative conservation of mobile vending, as a means to preserve the vivacious traditional lifestyle of local residents, can be realized through substantial urban design strategies, including spatial design of public space, height control of the facades, and traffic management around and inside shantytowns.

Keywords: cultural inheritance, mobile vending, renovation planning, shantytowns

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Authors: Vijay Samuel, Tina Thekkekkara, Shoma Ganguly

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There is no reported Hanta Seoul virus infection in children in the UK so far, making it quite challenging for clinicians in diagnosing, predicting and prognosticating the outcome of the infection to patients and parents. We report a case of a ten-year-old girl who presented with pyrexia associated with headache, photophobia and abdominal pain. The family had recently acquired two pet rats six weeks ago. She appeared flushed with peri-oral pallor, coated the strawberry tongue, inflamed tonsils and bilateral cervical lymphadenopathy. Her liver and splenic edges were palpable. Investigations showed that she was thrombocytopenic with deranged renal and liver functions. An ultrasound abdomen demonstrated a mildly enlarged spleen, peripancreatic lymph node and an acalculous cholecystitis. In view of her clinical presentation, a diagnosis of leptospirosis was considered and she was commenced on intravenous benzylpenicillin. The following day she became oliguric, developed significant proteinuria and her renal function deteriorated. Following conservative management, her urine output gradually improved along with her renal function, proteinuria and thrombocytopaenia. Serology for leptospirosis and various other viruses were negative. Following discussion with the Rare and Imported Pathogens Laboratory at Porton hanta virus serology was requested and found to be strongly positive for Seoul hanta virus. Following discharge she developed palpitations, fatigue, severe headache and cognitive difficulties including memory loss and difficulties in spelling, reading and mathematics. Extensive investigations including ECG, MRI brain and CSF studies were performed and revealed no significant abnormalities. Since 2012, there have been six cases of acute kidney injury due to Hantavirus infection in the UK. Two cases were from the Humber region and were exposure to wild rats and the other four were exposed to specially bred pet fancy rats. Hanta virus infections can cause mild flu like symptoms but two clinical syndromes are associated with severe disease including haemorrhagic fever with renal syndrome, which may be associated with thrombocytopenia and Hantavirus cardiopulmonary syndrome. Neuropsychological impairments reported following hantavirus pulmonary syndrome and following Puumala virus infection have been reported. Minor white matter lesions were found in about half of the patients investigated with MRI brain. Seoul virus has a global distribution owing to the dispersal of its carrier host rats, through global trade. Several ports in the region could explain the possible establishment of Seoul virus in local populations of rats in the Yorkshire and Humber region. The risk of infection for occupationally exposed groups is 1-3% compared to 32.9% for specialist pet rat owners. The report highlight’s the importance of routinely asking about pets in the family. We hope to raise awareness of the emergence of hantavirus infection in the UK, particularly in the Yorkshire and Humber region. Clinicians should consider hantavirus infection as a potential cause of febrile illness causing renal impairment in children. Awareness of the possible neuro-cognitive sequele would help the clinicians offer appropriate information and support to children and their families. Contacting Rare and Imported Pathogens Laboratory at Porton is a useful resource for clinicians in UK when they consider unusual infections.

Keywords: Seoul hantavirus in child Porton, UK Acute kidney injury

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Authors: Feng Guo

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Human brain organoids, 3D brain tissue cultures derived from human pluripotent stem cells, hold promising potential in modeling neuroinflammation for a variety of neurological diseases. However, challenges remain in generating standardized human brain organoids that can recapitulate key physiological features of a human brain. Here, this study presents a series of organoids-on-a-chip systems to generate better human brain organoids and model neuroinflammation. By employing 3D printing and microfluidic 3D cell culture technologies, the study’s systems enable the reliable, scalable, and reproducible generation of human brain organoids. Compared with conventional protocols, this study’s method increased neural progenitor proliferation and reduced heterogeneity of human brain organoids. As a proof-of-concept application, the study applied this method to model substance use disorders.

Keywords: human brain organoids, microfluidics, organ-on-a-chip, neuroinflammation

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Authors: Sweta Das

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This case report is a 15-year-old male who presented with painless unilateral vision loss from left optic nerve compression due to juvenile nasopharyngeal angiofibroma. JNA is a rare, benign neoplasm that causes intracranial and intraorbital bone destruction and extends aggressively into surrounding soft tissues. It accounts for <1% of all head and neck tumors, is predominantly found in pediatric males and tends to affect indigenous population disproportionately. The most common presenting symptom for JNA is epistaxis and nasal obstruction. However, it can invade orbit, chiasm and pituitary gland, causing loss of vision and field. Visual acuity and function near normalized following surgical excision. Optometry plays an important role in the diagnosis and co-management of JNA with optic nerve compression by closely monitoring afferent optic nerve function and structure, and extraocular motility. Visual function and acuity in patients with short-term compressive neuropathy may drastically improve following surgical resection as this case demonstrates.

Keywords: orbital mass, painless monocular vision loss, compressive optic neuropathy, pediatric tumor

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Authors: Hakim Derradji, Abdelkader Yahi, Abdelmalek Sabrou, Nacer Tabet

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Introduction: Cystic lesions located in the sellar and suprasellar region cause a diagnostic and therapeutic problem, given their location and their impact on neighboring structures. The patient's symptomatology varies from a simple headache to serious visual and endocrine disorders, involving the functional prognosis, sometimes even the vital prognosis. Surgery in this region remains a therapeutic challenge, and several surgical techniques have been described and used. Material and Methods: We treated 15 patients during the period from 2015 to 2022, whose clinical, biological, radiological, and therapeutic characteristics will be presented in detail in this work, and in whom the surgical technique differs from one case to another. Conclusion: We will discuss in this work the different techniques used to treat these lesions and the different objectives to be achieved for each case, as well as the complications and our conduct to be taken per and post-operative.

Keywords: cystic lesions, adenomas, sellar and suprasellar region, neuroendoscopy

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Authors: Richard Vuijk, Arnoud Arntz

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Rationale: To our knowledge treatment of personality disorder comorbidity in adults with autism spectrum disorder (ASD) is understudied and is still in its infancy: We do not know if treatment of personality disorders may be applicable to adults with ASD. In particular, it is unknown whether patients with ASD benefit from experiential techniques that are part of schema therapy developed for the treatment of personality disorders. Objective: The aim of the study is to investigate the efficacy of a schema mode focused treatment with adult clients with ASD and comorbid personality pathology (i.e. at least one personality disorder). Specifically, we investigate if they can benefit from both cognitive-behavioral, and experiential interventions. Study design: A multiple baseline case series study. Study population: Adult individuals (age > 21 years) with ASD and at least one personality disorder. Participants will be recruited from Sarr expertise center for autism in Rotterdam. The study requires 12 participants. Intervention: The treatment protocol consists of 35 weekly offered sessions, followed by 10 monthly booster sessions. A multiple baseline design will be used with baseline varying from 5 to 10 weeks, with weekly supportive sessions. After baseline, a 5-week exploration phase follows with weekly sessions during which current and past functioning, psychological symptoms, schema modes are explored, and information about the treatment will be given. Then 15 weekly sessions with cognitive-behavioral interventions and 15 weekly sessions with experiential interventions will be given. Finally, there will be a 10-month follow-up phase with monthly booster sessions. Participants are randomly assigned to baseline length, and respond weekly during treatment and monthly at follow-up on Belief Strength of negative core beliefs (by VAS), and fill out SMI, SCL-90 and SRS-A 7 times during screening procedure (i.e. before baseline), after baseline, after exploration, after cognitive and behavioral interventions, after experiential interventions, and after 5- and 10- month follow-up. The SCID-II will be administered during screening procedure (i.e. before baseline), at 5- and at 10-month follow-up. Main study parameters: The primary study parameter is negative core beliefs. Secondary study parameters include schema modes, personality disorder manifestations, psychological symptoms, and social interaction and communication. Discussion: To the best of author’s knowledge so far no study has been published on the application of schema mode focused interventions in adult patients with ASD and comorbid PD(s). This study offers the first systematic test of application of schema therapy for adults with ASD. The results of this study will provide initial evidence for the effectiveness of schema therapy in treating adults with both ASD and PD(s). The study intends to provide valuable information for future development and implementation of therapeutic interventions for adults with both ASD and PD(s).

Keywords: adults, autism spectrum disorder, personality disorder, schema therapy

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Authors: Endrick Barnacin, Jean-Luc Henry, Jack Molinié, Jimmy Nagau, Hélène Delatte, Gérard Lebreton

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Palynology is a field of interest for many disciplines. It has multiple applications such as chronological dating, climatology, allergy treatment, and even honey characterization. Unfortunately, the analysis of a pollen slide is a complicated and time-consuming task that requires the intervention of experts in the field, which is becoming increasingly rare due to economic and social conditions. So, the automation of this task is a necessity. Pollen slides analysis is mainly a visual process as it is carried out with the naked eye. That is the reason why a primary method to automate palynology is the use of digital image processing. This method presents the lowest cost and has relatively good accuracy in pollen retrieval. In this work, we propose a system combining recognition and grouping of pollen. It consists of using a Logistic Model Tree to classify pollen already known by the proposed system while detecting any unknown species. Then, the unknown pollen species are divided using a cluster-based approach. Success rates for the recognition of known species have been achieved, and automated clustering seems to be a promising approach.

Keywords: pollen recognition, logistic model tree, expectation-maximization, local binary pattern

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Authors: Yusra Ibrahim

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Parental involvement in their children’s education and behavioral modification is important. This article provides a policy analysis that describes laws and public education regulations concerning justice-involved youth and youth at risk of delinquency in the United Arab Emirates. The article aims to clarify the UAE laws for parents and guardians regarding their involvement in addressing school violations and crimes committed by their children, particularly those with emotional and behavioral disorders, youths at risk for delinquency, and justice-involved youths. The article concludes with implications for parents, policymakers, and educators and suggests ways to improve services and support for these parents and their youth.

Keywords: justice-involved youth, parents, incarceration, incarcerated youth, United Arab Emirates.

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Authors: Elena E. Lyakso, Olga V. Frolova, Yuri N. Matveev, Aleksey S. Grigorev, Alexander S. Nikolaev, Viktor A. Gorodnyi

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The study of the children’s emotional sphere depending on age and psychoneurological state is of great importance for the design of educational programs for children and their social adaptation. Atypical development may be accompanied by violations or specificities of the emotional sphere. To study characteristics of the emotional state reflection in the voice and speech features of children, the perceptual study with the participation of adults and the automatic recognition of speech were conducted. Speech of children with typical development (TD), with Down syndrome (DS), and with autism spectrum disorders (ASD) aged 6-12 years was recorded. To obtain emotional speech in children, model situations were created, including a dialogue between the child and the experimenter containing questions that can cause various emotional states in the child and playing with a standard set of toys. The questions and toys were selected, taking into account the child’s age, developmental characteristics, and speech skills. For the perceptual experiment by adults, test sequences containing speech material of 30 children: TD, DS, and ASD were created. The listeners were 100 adults (age 19.3 ± 2.3 years). The listeners were tasked with determining the children’s emotional state as “comfort – neutral – discomfort” while listening to the test material. Spectrographic analysis of speech signals was conducted. For automatic recognition of the emotional state, 6594 speech files containing speech material of children were prepared. Automatic recognition of three states, “comfort – neutral – discomfort,” was performed using automatically extracted from the set of acoustic features - the Geneva Minimalistic Acoustic Parameter Set (GeMAPS) and the extended Geneva Minimalistic Acoustic Parameter Set (eGeMAPS). The results showed that the emotional state is worse determined by the speech of TD children (comfort – 58% of correct answers, discomfort – 56%). Listeners better recognized discomfort in children with ASD and DS (78% of answers) than comfort (70% and 67%, respectively, for children with DS and ASD). The neutral state is better recognized by the speech of children with ASD (67%) than by the speech of children with DS (52%) and TD children (54%). According to the automatic recognition data using the acoustic feature set GeMAPSv01b, the accuracy of automatic recognition of emotional states for children with ASD is 0.687; children with DS – 0.725; TD children – 0.641. When using the acoustic feature set eGeMAPSv01b, the accuracy of automatic recognition of emotional states for children with ASD is 0.671; children with DS – 0.717; TD children – 0.631. The use of different models showed similar results, with better recognition of emotional states by the speech of children with DS than by the speech of children with ASD. The state of comfort is automatically determined better by the speech of TD children (precision – 0.546) and children with ASD (0.523), discomfort – children with DS (0.504). The data on the specificities of recognition by adults of the children’s emotional state by their speech may be used in recruitment for working with children with atypical development. Automatic recognition data can be used to create alternative communication systems and automatic human-computer interfaces for social-emotional learning. Acknowledgment: This work was financially supported by the Russian Science Foundation (project 18-18-00063).

Keywords: autism spectrum disorders, automatic recognition of speech, child’s emotional speech, Down syndrome, perceptual experiment

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Authors: Olivier Mulisya, Guelord Barasima, Henry Mark Lugobe, Philémon Matumo, Bienfait Mumbere Vahwere, Hilaire Mutuka, Zawadi Léocadie, Wesley Lumika

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Abdominal pregnancy is defined as pregnancy anywhere within the peritoneal cavity, exclusive of tubal, ovarian, or broad ligament locations. It is a rare form of ectopic pregnancy with high morbidity and mortality for both the mother and the fetus. Diagnosis can be frequently missed in most poor-resource settings because of poor antenatal coverage, low socioeconomic status in most of the patients as well as lack of adequate medical resources. Clinical diagnosis can be very difficult and an ultrasound scan is very helpful during the early stages of gestation but can also be disappointing in the later stages. We report a case of a 25-year-old woman with severe abdominal pain not amended with any medication. A clinical picture of shock lead to an emergency laparotomy which confirmed the diagnosis of abdominal pregnancy. The ministry of health in developing countries should make an effort to make routine early ultrasounds accessible to pregnant women, and obstetricians should keep in mind the possibility of ectopic pregnancy, irrespective of the gestational age.

Keywords: abdominal pregnancy, live new bron, ultrasound imaging, abdominal pain

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Authors: Sangram A. Sathe, Neha A. Madgulkar, Shruti S. Raut, S. P. Wadkar

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Transforaminal lumbar interbody fusion (TLIF) surgeries have nowadays became popular for treatment of degenerated spinal disorders. The interbody fusion technique like TLIF maintains load bearing capacity of the spine and a suitable disc height. Currently many techniques have been introduced to cure Spondylolisthesis. This surgery provides greater rehabilitation of degenerative spines. While performing this TLIF surgery existing methods use guideway, which is a troublesome surgery technique as the use of two separate instruments is required to perform this surgery. This paper presents a concept which eliminates the use of guideway. This concept also eliminates problems that occur like reverting the cage. The concept discussed in this paper also gives high accuracy while performing surgery.

Keywords: TLIF, spondylolisthesis, spine, instruments

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Authors: Harim Mohsin, Afshan Channa, Beena Saad

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The Kocher Debre Semelaigne Syndrome (KDSS) is known as cretinism muscular hypertrophy. It is an unusual presentation in intellectually deficit children, commonly associated with congenital or iatrogenic hypothyroidism. The creatinine phosphokinase (CPK) is usually elevated and it’s commonly found in males, consanguineous marriage and ages 18 months to 10 years. It might be misdiagnosed without the classical features of hypothyroidism at first presentation. We present a case of 15 year old intellectually deficit female with epilepsy managed on phenytoin. She had rigidity, myxedema, calf muscle hypertrophy and agitation. The patient was managed as Neuroleptic Malignant Syndrome due to raised CPK of 40,680 IU/L and mixed presentation. Nevertheless, no improvement was noticed and thyroid profile was done to exclude alternative resources. Thyroid stimulating hormone (TSH) was 74.5 IU, Free T3 1.22 ng/dl, and Free T4 0.43 ng/dl. Thyroxine was started along with change in antiepileptic leading to recovery. This case report highlights the inconsistent finding of KDSS. The female gender, non-consanguineous marriage, delayed onset with primarily neuromuscular symptoms, and raised CPK is a rare demonstration in KDSS. Additionally, thyroid profile is not routinely done, which can lead to misdiagnosis and mismanagement.

Keywords: cretinism, hypothyroidism, intellectual deficit, KDSS

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Authors: Meryem Abi-Ayad, Biagio Arcidiacono, Eusebio Chiefari, Daniela Foti, Mohamed Benyoucef, Antonio Brunetti

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Lipoprotein Lipase (LPL) is a key enzyme for lipid metabolism; its genetic polymorphism can be a candidate for modulating lipids parameters in metabolic syndrome. The objective of the present study was to determine whether lipoproteins lipase polymorphisMetS (LPL-HindIII) could be associated with moderate hypertriglyceridemia (secondary to metabolism syndrome). The polymorphism Hind III (rs320) was assessed by PCR-RFLP in 51 MetS patients and 17 healthy controls from the hospital in Tlemcen. The logistic regression analyses showed no significant association with Hind III genotype and hypertriglyceridemia (TG ≥ 1,5g/l or TG lower treatment) (P=0,455), metabolic syndrome (P=0,455), hypertension (P=0,802) and type 2 diabetes (P=0,144). In terms of plasma biomarkers, although not statistically significant, there was a difference in TG levels (P > 0,05), which was lowest among carriers of the homogenous mutant allele (H-). In this study, there was no association between the rare allele (H-) and disease protection, and between the frequent allele (H+) and disease prevalence (hypertriglyceridemia, metabolic syndrome, hypertension, type 2 diabetes).

Keywords: moderate secondary hypertriglyceridemia, metabolic syndrome, lipids, polymorphism lipoprotein lipase, HindIII(rs320)

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Authors: Georgia Saxami, Evangelia N. Kerezoudi, Evdokia K. Mitsou, Marigoula Vlassopoulou, Georgios Zervakis, Adamantini Kyriacou

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Autism Spectrum Disorder (ASD) is a complex group of developmental disorders of the brain, characterized by social and communication dysfunctions, stereotypes and repetitive behaviors. The potential interaction between gut microbiota (GM) and autism has not been fully elucidated. Children with autism often suffer gastrointestinal dysfunctions, while alterations or dysbiosis of GM have also been observed. Treatment with dietary components has been postulated to regulate GM and improve gastrointestinal symptoms, but there is a lack of evidence for such approaches in autism, especially for prebiotics. This study assessed the effects of Pleurotus eryngii mushroom (candidate prebiotic) and inulin (known prebiotic compound) on gut microbial composition, using faecal samples from autistic children in an in vitro batch culture fermentation system. Selected members of GM were enumerated at baseline (0 h) and after 24 h fermentation by quantitative PCR. After 24 h fermentation, inulin and P. eryngii mushroom induced a significant increase in total bacteria and Faecalibacterium prausnitzii compared to the negative control (gut microbiota of each autistic donor with no carbohydrate source), whereas both treatments induced a significant increase in levels of total bacteria, Bifidobacterium spp. and Prevotella spp. compared to baseline (t=0h) (p for all <0.05). Furthermore, this study evaluated the impact of fermentation supernatants (FSs), derived from P. eryngii mushroom or inulin, on the expression levels of tight junctions’ genes (zonulin-1, occludin and claudin-1) in Caco-2 cells stimulated by bacterial lipopolysaccharides (LPS). Pre-incubation of Caco-2 cells with FS from P. eryngii mushroom led to a significant increase in the expression levels of zonulin-1, occludin and claudin-1 genes compared to the untreated cells, the cells that were subjected to LPS and the cells that were challenged with FS from negative control (p for all <0.05). In addition, incubation with FS from P. eryngii mushroom led to the highest mean expression values for zonulin-1 and claudin-1 genes, which differed significantly compared to inulin (p for all <0.05). Overall, this research highlighted the beneficial in vitro effects of P. eryngii mushroom on the composition of GM of autistic children after 24 h of fermentation. Also, our data highlighted the potential preventive effect of P. eryngii FSs against dysregulation of the intestinal barrier, through upregulation of tight junctions’ genes associated with the integrity and function of the intestinal barrier. This research has been financed by "Supporting Researchers with Emphasis on Young Researchers - Round B", Operational Program "Human Resource Development, Education and Lifelong Learning."

Keywords: gut microbiota, intestinal barrier, autism spectrum disorders, Pleurotus Eryngii

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Authors: Garima Joshi, Ashima N. Wadhawan

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Neuropsychology in India is a fairly new field, having started only four decades back. Neuropsychology has come a long way since the establishment of the first department, from using western batteries for assessing patients to the development of highly reliable indigenous tools for assessing neuropsychological functioning. Clinical neuropsychology has risen as a discipline in the field of assessing and rehabilitating patients with various neurological conditions such as Traumatic Brain Injury, Stroke, Mild Cognitive Impairment, Alzheimer’s, Schizophrenia and other disorders with cognitive decline. The current review attempts to assimilate the history of the discipline in India, along with the current developments and future direction of the field and highlights the pursuit and undertakings of the scientists to provide culturally appropriate services, in terms of assessment and rehabilitation, to the Indian population.

Keywords: clinical neuropsychology, cognitive assessment, cognitive rehabilitation, neuropsychological test batteries in India

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Authors: Mohamed Wahba

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Objective: To build a comparative arm for product (X) in specific gene mutated advanced gastrointestinal cancer using real world evidence to fulfill HTA requirements in drug evaluation. Methods: Data for product (X) were collected from phase II clinical trial while real world data for (Y) and (Z) were collected from US database. Real-world (RW) cohorts were matched to clinical trial base line characteristics using weighting by odds method. Outcomes included progression-free survival (PFS) and overall survival (OS) rates. Study location and participants: Internationally (product X, n=80) and from USA (Product Y and Z, n=73) Results: Two comparisons were made: trial cohort 1 (X) versus real-world cohort 1 (Z), trial cohort 2 (X) versus real-world cohort 2 (Y). For first line, the median OS was 9.7 months (95% CI 8.6- 11.5) and the median PFS was 5.2 months (95% CI 4.7- not reached) for real-world cohort 1. For second line, the median OS was 10.6 months (95% CI 4.7- 27.3) for real-world cohort 2 and the median PFS was 5.0 months (95% CI 2.1- 29.3). For OS analysis, results were statistically significant but not for PFS analysis. Conclusion: This study provided the clinical comparative outcomes needed for HTA evaluation.

Keywords: real world evidence, pharmacoeconomics, HTA agencies, oncology

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Authors: J. Manuel Bello-López, Julieta Rojo-Medina

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Introduction: The transplant of Umbilical Cord Blood Units (UCBU) are a therapeutic possibility for patients with oncohaematological disorders, especially in children. In Mexico, 48.5% of oncological diseases in children 1-4 years old are leukemias; whereas in patients 5-14 and 15-24 years old, lymphomas and leukemias represent the second and third cause of death in these groups respectively. Therefore it is necessary to have more registries of UCBU in order to ensure genetic diversity in the country; the above because the search for appropriate a UCBU is increasingly difficult for patients of mixed ethnicity. Objective: To estimate the genetic diversity (polymorphisms) of Human Leucocyte Antigen (HLA) Class I (A, B) and Class II (DRB1) in UCBU cryopreserved for transplant at Cord Blood Bank of the NCBT. Material and Methods: HLA typing of 533 UCBU for transplant was performed from 2003-2012 at the Histocompatibility Laboratory from the Research Department (evaluated by Los Angeles Ca. Immunogenetics Center) of the NCBT. Class I HLA-A, HLA-B and Class II HLA-DRB1 typing was performed using medium resolution Sequence-Specific Primer (SSP). In cases of an ambiguity detected by SSP; Sequence-Specific Oligonucleotide (SSO) method was carried out. A strict analysis of populations genetic parameters were done in 5 representative UCBU populations. Results: 46.5% of UCBU were collected from Mexico City, State of Mexico (30.95%), Puebla (8.06%), Morelos (6.37%) and Veracruz (3.37%). The remaining UCBU (4.75%) are represented by other states. The identified genotypes correspond to Amerindian origins (HLA-A*02, 31; HLA-B*39, 15, 48), Caucasian (HLA-A*02, 68, 01, 30, 31; HLA-B*35, 15, 40, 44, 07 y HLA-DRB1*04, 08, 07, 15, 03, 14), Oriental (HLA-A*02, 30, 01, 31; HLA-B* 35, 39, 15, 40, 44, 07,48 y HLA-DRB1*04, 07,15, 03) and African (HLA-A*30 y HLA-DRB1*03). The genetic distances obtained by Cavalli-Sforza analysis of the five states showed significant genetic differences by comparing genetic frequencies. The shortest genetic distance exists between Mexico City and the state of Puebla (0.0039) and the largest between Veracruz and Morelos (0.0084). In order to identify significant differences between this states, the ANOVA test was performed. This demonstrates that UCBU is significantly different according to their origin (P <0.05). This is shown by the divergence between arms at the Dendogram of Neighbor-Joining. Conclusions: The NCBT provides UCBU in patients with oncohaematological disorders in all the country. There is a group of patients for which not compatible UCBU can be find due to the mixed ethnic origin. For example, the population of northern Mexico is mostly Caucasian. Most of the NCBT donors are of various ethnic origins, predominantly Amerindians and Caucasians; although some ethnic minorities like Oriental, African and pure Indian ethnics are not represented. The NCBT is, therefore, establishing agreements with different states of Mexico to promote the altruistic donation of Umbilical Cord Blood in order to enrich the genetic diversity in its files.

Keywords: cord blood, genetic diversity, human leucocyte antigen, transplant

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Authors: Alldila Hendy, Agi Satria

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Background: A colostomy procedure is an important part in the management of surgical procedures in some diseases involving the gastrointestinal tract. So it is necessary to find the factors that influence the occurrence of complications. Methods: This is a retrospective cross-sectional analytic study in Cipto Mangunkusumo Hospital noting medical records of patients after the colostomy from January 2012 to December 2014 at the Division of Digestive Surgery. Results: In 136 cases of post-colostomy, 66 cases have complications, 14 is early-onset, and 52 is late-onset. 70 is without complications. Most complications are dermatitis, which is 31 (22.8%), cases of infection/abscess/fistula and intestinal obstruction are 13 (9.6%) and 5 patients (4.4%). A rare complication is colostomy retraction by 2 patients (1.5%), colostomy prolapse and necrosis/gangrene, which is only 3 patients (2.2%). A colostomy procedure in emergency surgery is riskier than elective surgery for complications after colostomy (p < 0.007, OR 2.85), Based on the operator who performs a colostomy procedure, the consultant had a lower risk of complications than fellow or resident (p < 0.0001). Based on the age factor, where the age of about 50 years has a risk of complications after colostomy (p < 0.018). Conclusion: The timing of operation (emergency or elective), age, and operator who perform a colostomy procedure have a significant relationship with an increased prevalence of complications after colostomy in RSCM.

Keywords: colostomy, complications, factors, procedure

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