Search results for: congenital sepsis

Authors: Masahiro Nochi

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This study explores the process in which a Japanese child with congenital blindness deepens understanding of the condition of being “unable to see” and develops the idea of “blind self,” despite having no direct experience of vision. The rehabilitation activities of a child with a congenital visual impairment that were video-recorded from 1 to 6 years old were analyzed qualitatively. The duration of the video was about 80 hours. The recordings were transcribed verbatim, and the episodes in which the child used the words related to the act of “looking” were extracted. Detailed transcripts were constructed referencing the notations of conversation analysis. Characteristics of interactions in those episodes were identified and compared longitudinally. Results showed that the child used the expression "look" under certain interaction patterns and her body expressions and interaction with adults developed in conjunction with the development of language use. Four stages were identified. At the age of 1, interactions involving “look” began to occur. The child said "Look" in the sequence: the child’s “Look,” an adult’s “I’m looking,” certain performances by the child, and the adult’s words of praise. At the age of 3, the child began to behave in accordance with the spatial attributes of the act of "looking," such as turning her face to the adult’s voice before saying, “Look.” She also began to use the expression “Keep looking,” which seemed to reflect her understanding of the temporality of the act of “looking.” At the age of 4, the use of “Look” or “Keep looking” became three times more frequent. She also started to refer to the act of looking in the future, such as “Come and look at my puppy someday.” At the age of 5, she moved her hands toward the adults when she was holding something she wanted to show them. She seemed to understand that people could see the object more clearly when it was in close priximity. About that time, she began to say “I cannot see” to her mother, which suggested a heightened understanding of her own blindness. The findings indicate that as she grew up, the child came to utilize nonverbal behavior before and after the order "Look" to make the progress of the interaction with adults even more certain. As a result, actions that reflect the characteristics of the sighted person's visual experience were incorporated into the interaction chain. The purpose of "Look," with which she intended to attract the adult's attention at first, changed and became something that requests a confirmation she was unable to make herself. It is considered that such a change in the use of the word as well as interaction with sighted adults reflected her heightened self-awareness as someone who could not do what sighted people could do easily. A blind child can gradually deepen their understanding of their own characteristics of blindness among sighted people around them. The child can also develop “blind self” by learning how to interact with others even without direct visual experiences.

Keywords: blindness, child development, conversation analysis, self-concept

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Authors: Ardiana Murtezani, Ilirijana Dallku, Teuta Osmani Vllasolli, Sabit Sllamniku

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Background: The use of foot orthoses are always indicated when there are alterations of the optimal biomechanics' position of the foot. Orthotics are very effective and very suitable for the majority of patients with pain due to overload which can be related to biomechanical disorders. Aim: To assess the frequency of patients requiring foot orthoses, type of orthoses and analysis of their disease leading to the use of foot orthoses. Material and Methods: Our study included 128 patients with various foot pathologies, treated at the outpatient department of the Ortho-Prosthetic Center of Kosovo (OPCK) in Prishtina. Prospective-descriptive clinical method was used during this study. Functional status of patients was examined, and the following parameters are noted: range of motion measurements for the affected joints/lower extremities, manual test for muscular strength below the knee and foot of the affected extremity, perimeter measurements of the lower extremities, measurements of lower extremities, foot length measurement, foot width measurements and size. In order to complete the measurements the following instruments are used: plantogram, pedogram, meter and cork shoe lift appliances. Results: The majority of subjects in this study are male (60.2% vs. 39.8%), and the dominant age group was 0-9 (47.7%), 61 subjects respectively. Most frequent foot disorders were: congenital disease 60.1%, trauma cases 13.3%, consequences from rheumatologic disease 12.5%, neurologic dysfunctions 11.7%, and the less frequented are the infectious cases 1.6%. Congenital anomalies were the most frequent cases, and from this group majority of cases suffered from pes planovalgus (37.5%), eqinovarus (15.6%) and discrepancies between extremities (6.3%). Furthermore, traumatic amputations (2.3%) and arthritis (0.8%). As far as neurologic disease, subjects with cerebral palsy are represented with (3.1%), peroneal nerve palsy (2.3%) and hemiparesis (1.6%). Infectious disease osteomyelitis sequels are represented with (1.6%). Conclusion: Based on our study results, we have concluded that the use of foot orthoses for patients suffering from rheumatoid arthritis and nonspecific arthropaty was effective treatment choice, leading to decrease of pain, less deformities and improves the quality of life.

Keywords: orthoses, epidemiological analysis, rheumatoid arthritis, rehabilitation

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Authors: Darawan Augsornwan, Artitaya Sabangbal, Maneewan Srijan, Kanokarn Kongpitee, Lalida Petphai, Palakorn Surakunprapha

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Background: Srinagarind Hospital, Ward 3C, has patients with head and neck cancer, congenital urology anomalies such as hypospadis, cleft lip and cleft palate and congenital megacolon who need surgery. Undergoing surgery is a difficult time for patients/ family; they feel fear and anxiety. Nurses work closely with patients and family for 24 hours in the process of patients care, so should have the good nursing ability, innovation and an efficient nursing care system to promote patients self-care ability reducing suffering and preventing complications. From previous nursing outcomes we found patients did not receive appropriate information, could not take care of their wound, not early ambulation after the operation and lost follow-up. Objective: to develop the nursing system for patients who were undergoing an operation. Method: this is a participation action research. The sample population was 11 nurses and 60 patients. This study was divided into 3 phase: Phase 1. Situation review In this phase we review the clinical outcomes, the process of care from documents such as nurses note and interview nurses, patients and family about the process of care by nurses. Phase 2: focus group with 11 nurses, searching guideline for specific care, nursing care system then establish the protocol. This phase we have the protocol for giving information, teaching protocol and teaching record, leaflet for all of top five diseases, make video media to convey information, ambulation package and protocol for patients with head and neck cancer, patients zoning, primary nurse, improved job description for each staff level. Program to record number of patients, kind of medical procedures for showing nurses activity each day. Phase 3 implementation and evaluation. Result: patients/family receive appropriate information about deep breathing exercise, cough, early ambulation after the operation, information during the stay in the hospital. Patients family satisfaction is 95.04 percent, appropriate job description for a practical nurse, nurse aid, and worker. Nurses satisfaction is 95 percent. The complications can be prevented. Conclusion: the nursing system is the dynamic process using evidence to develop nursing care. The appropriate system depends on context and needs to keep an eye on every event.

Keywords: development, nursing system, patients undergoing operation, 3C Ward

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Authors: Norimichi Nagano, Yoshio Hirano, Tsutomu Yasukawa

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Mesenchymal stem cells are thought to confer neuroprotection, facilitate tissue regeneration and exert their effects on retinal degenerative diseases, however, adverse events such as proliferative vitreoretinopathy and preretinal membrane disease associated with cell suspension transplantation have also been reported. We have recently developed human (allogeneic) adipose tissue-derived mesenchymal stem cell (adMSC) sheets through our proprietary sheet transformation technique, which could potentially mitigate these adverse events. To clarify the properties of our adMSC sheets named PAL-222, we performed in vitro studies such as viability testing, cytokine secretions by ELISA, immunohistochemical study, and migration assay. The viability of the cells exceeded 70%. Vascular Endothelial Growth Factor (VEGF) and Pigment Epithelium-Derived Factor (PEDF), which are quite important cytokines for the retinal area, were observed. PAL-222 expressed type I collagen, a strength marker, type IV collagen, a marker of the basement membrane, and elastin, an elasticity marker. Finally, the migration assay was performed and showed negative, which means that PAL-222 is stably kept in the topical area and does not come to pieces. Next, to evaluate the efficacy in vivo, we transplanted PAL-222 into the subretinal space of the eye of Royal College of Surgeons rats with congenital retinal degeneration and assessed it for three weeks after transplantation. We confirmed that PAL-222 suppressed the decrease in the thickness of the outer nuclear layer, which means that the photoreceptor protective effect treated with PAL-222 was significantly higher than that in the sham group. (p < 0.01). This finding demonstrates that PAL-222 showed their retinoprotective effect in a model of congenital retinal degeneration. As the study suggested the efficacy of PAL-222 in both in vitro and in vivo studies, we are presently engaged in clinical trials of PAL-222 for myopic chorioretinal atrophy, which is one of the retinal degenerative diseases, for the purpose of regenerative medicine.

Keywords: cell sheet, clinical trial, mesenchymal stem cell, myopic chorioretinal atrophy

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Authors: D. Beckwith

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This research explored sexual identity for women with physical disability, both congenital and acquired. It also explored whether exposure to violence or negative risk-taking had played a role in their intimate relationships. This phenomenological research used semi-structured interviews and photo elicitation with the researcher’s insider knowledge adding experiential substance and understanding to the discussion. Findings confirm sexuality for women with physical disability is marginalised and de-gendered making it less of a priority for professionals and policy makers and emphasising the need to more effectively support women with disability in relation to their sexuality, sexual expression and violence.

Keywords: lived-experience, identity, PhotoVoice, sexuality, violence, women with physical disability

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Authors: Mary Farrell, Maria Soubra, Sandra Vega, Dorothy Kakraba, Joanne Fontanilla, Moira Kendra, Danielle Tonzola, Stephanie Chiu

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Pneumonia is the most common infectious cause of hospitalizations in the United States, with more than one million admissions annually and costs of $10 billion every year, making it the 8th leading cause of death. Aspiration pneumonia is an aggressive type of pneumonia that results from inhalation of oropharyngeal secretions and/or gastric contents and is preventable. The authors hypothesized that an evidence-based aspiration pneumonia clinical care pathway could reduce 30-day hospital readmissions and mortality rates, while improving the overall care of patients. We conducted a retrospective chart review on 979 patients discharged with aspiration pneumonia from January 2021 to December 2022 at Overlook Medical Center. The authors identified patients who were coded with aspiration pneumonia and/or stable sepsis. Secondarily, we identified 30-day readmission rates for aspiration pneumonia from a SNF. The Aspiration Pneumonia Clinical Care Pathway starts in the emergency department (ED) with the initiation of antimicrobials within 4 hours of admission and early recognition of aspiration. Once this is identified, a swallow test is initiated by the bedside nurse, and if the patient demonstrates dysphagia, they are maintained on strict nothing by mouth (NPO) followed by a speech and language pathologist (SLP) referral for an appropriate modified diet recommendation. Aspiration prevention techniques included the avoidance of straws, 45-degree positioning, no talking during meals, taking small bites, placement of the aspiration wrist band, and consuming meals out of the bed in a chair. Nursing education was conducted with a newly created online learning module about aspiration pneumonia. The authors identified 979 patients, with an average age of 73.5 years old, who were diagnosed with aspiration pneumonia on the index hospitalization. These patients were reviewed for a 30-day readmission for aspiration pneumonia or stable sepsis, and mortality rates from January 2021 to December 2022 at Overlook Medical Center (OMC). The 30-day readmission rates were significantly lower in the cohort that received the clinical care pathway (35.0% vs. 27.5%, p = 0.011). When evaluating the mortality rates in the pre and post intervention cohort the authors discovered the mortality rates were lower in the post intervention cohort (23.7% vs 22.4%, p = 0.61) Mortality among non-white (self-reported as non-white) patients were lower in the post intervention cohort (34.4% vs. 21.0% , p = 0.05). Patients who reported as a current smoker/vaper in the pre and post cohorts had increased mortality rates (5.9% vs 22%). There was a decrease in mortality for the male population but an increase in mortality for women in the pre and post cohorts (19% vs. 25%). The authors attributed this increase in mortality in the post intervention cohort to more active smokers, more former smokers, and more being admitted from a SNF. This research identified that implementation of an Aspiration Pneumonia Clinical Care Pathway showed a statistically significant decrease in readmission rates and mortality rates in non-whites. The 30-day readmission rates were lower in the cohort that received the clinical care pathway (35.0% vs. 27.5%, p = 0.011).

Keywords: aspiration pneumonia, mortality, quality improvement, 30-day pneumonia readmissions

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Authors: Aizati N. A. Daud, Jorieke E. H. Bergman, Wilhelmina S. Kerstjens-Frederikse, Pieter Van Der Vlies, Eelko Hak, Rolf M. F. Berger, Henk Groen, Bob Wilffert

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Prenatal use of SRIs was previously associated with Congenital Heart Anomalies (CHA). The aim of the study is to explore whether pharmacogenetics plays a role in this teratogenicity using a gene-environment interaction study. A total of 33 case-mother dyads and 2 mother-only (children deceased) registered in EUROCAT Northern Netherlands were included in a case-only study. Five case-mother dyads and two mothers-only were exposed to SRIs (paroxetine=3, fluoxetine=2, venlafaxine=1, paroxetine and venlafaxine=1) in the first trimester of pregnancy. The remaining 28 case-mother dyads were not exposed to SRIs. Ten genes that encode the enzymes or proteins important in determining fetal exposure to SRIs or its mechanism of action were selected: CYPs (CYP1A2, CYP2C9, CYP2C19, CYP2D6), ABCB1 (placental P-glycoprotein), SLC6A4 (serotonin transporter) and serotonin receptor genes (HTR1A, HTR1B, HTR2A, and HTR3B). All included subjects were genotyped for 58 genetic variations in these ten genes. Logistic regression analyses were performed to determine the interaction odds ratio (OR) between genetic variations and SRIs exposure on the risk of CHA. Due to low phenotype frequencies of CYP450 poor metabolizers among exposed cases, the OR cannot be calculated. For ABCB1, there was no indication of changes in the risk of CHA with any of the ABCB1 SNPs in the children and their mothers. Several genetic variations of the serotonin transporter and receptors (SLC6A4 5-HTTLPR and 5-HTTVNTR, HTR1A rs1364043, HTR1B rs6296 & rs6298, HTR3B rs1176744) were associated with an increased risk of CHA, but with too limited sample size to reach statistical significance. For SLC6A4 genetic variations, the mean genetic scores of the exposed case-mothers tended to be higher than the unexposed mothers (2.5 ± 0.8 and 1.88 ± 0.7, respectively; p=0.061). For SNPs of the serotonin receptors, the mean genetic score for exposed cases (children) tended to be higher than the unexposed cases (3.4 ± 2.2, and 1.9 ± 1.6, respectively; p=0.065). This study might be among the first to explore the potential gene-environment interaction between pharmacogenetic determinants and SRIs use on the risk of CHA. With small sample sizes, it was not possible to find a significant interaction. However, there were indications for a role of serotonin receptor polymorphisms in fetuses exposed to SRIs on fetal risk of CHA which warrants further investigation.

Keywords: gene-environment interaction, heart defects, pharmacogenetics, serotonin reuptake inhibitors, teratogenicity

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Authors: Steven Robinson, Adriana Dager, Param Patel

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Wandering spleen is a rare variant where there is abnormal development of the ligamentous peritoneal attachments of the spleen which normally anchor it in the left upper quadrant of the abdomen. Ligamentous abnormalities can be congenital, or acquired through pregnancy, injury, or iatrogenic causes. Absence or laxity of these ligaments allows migration of the spleen into ectopic portions of the abdomen, which is also associated with an elongated vascular pedicle. Incidence of wandering spleen is reported at less than 0.25% with a female to male ratio of approximately 6:1. The most common complication of a wandering spleen is torsion around its vascular pedicle which can lead to thrombosis and infarction. Torsion of a wandering spleen is a rare but important cause of an acute abdomen. Imaging, and specifically CT or ultrasound, is crucial in the diagnosis. We present a case of a torsed wandering spleen which was treated with splenectomy.

Keywords: Wandering Spleen, Torsion, Splenic Torsion, Spleen

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Authors: Frazer Kirk, Rohen Skiba, Pankaj Saxena

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The natural history of the QAV is poorly understood due to the exceeding rarity of the condition. Incidence rates vary between 0.00028-1%. Classically patients present with Aortic Regurgitation (AR) between 40-60 years of age experiencing palpitations, chest pain, or heart failure. (1, 2) Echocardiography is the mainstay of diagnosis for this condition; however, given the rarity of this condition, it can easily be overlooked, as demonstrated here. The case report that follows serves as a reminder of the condition to reduce the innate cognitive bias to overlook the diagnosis due to the availability heuristic. Intraoperative photography, echocardiographic and magnetic resonance imaging from this case for reference to demonstrate that while the diagnosis of Aortic regurgitation was recognized early, the valve morphology was underappreciated.

Keywords: quadricuspid aortic valve, cardiac surgery, echocardiography, congenital

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Authors: Rida Ahmad, Areej S. Habib, Sohail A. Dogar, Saqib H. Qazi

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Transverse testicular ectopia is a rare congenital disorder involving mal descent and mal-positioning of the testes, reported in the medical literature about 300 times. Many theories attempt to explain the failure of the testes to migrate to their correct location. While the age at presentation can vary; most cases present in early adolescents or late adulthood. It is often an incidental discovery made during an operative intervention, most commonly during hernia exploration. It can be isolated or present with a plethora of anomalies. We present the case of a 2-year-old male with transverse testicular ectopia who presented with vague abdominal pain. He was managed successfully with the Modified Ombredanne procedure and good outcome 6 months after the procedure.

Keywords: cryptorchidism, persistent Mullerian duct syndrome, transverse testicular ectopia, testicular mal-descent

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Authors: Mohit Kumar, Beklashwar Salona, Shiv Murti, Mukesh Singh

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We report here a case of five-months old male baby, born as second child of non-consanguineous parents with no considerable history of genetic abnormality which was referred to our cytogenetic laboratory for chromosomal analysis. Physical dysmorphic facial features including mongoloid face, cleft palate, simian crease, and developmental delay were observed. We present this case with unique balanced autosomal translocation of t(3;10)(p21;p13). The risk of phenotypic abnormalities based on de novo balanced translocation was estimated to be 7%. The association of balanced chromosomal rearrangement with Down syndrome features such as multiple congenital anomalies, facial dysmorphism and congenital heart anomalies are very rare in a 5-months old male child. Trisomy-21 is not uncommon in chromosomal abnormality with the birth defect and balanced translocations are frequently observed in patients with secondary infertility or recurrent spontaneous abortion (RSA). Two ml heparinized peripheral blood cells cultured in RPMI-1640 for 72 hours supplemented with 20% fetal bovine serum, phytohemagglutinin (PHA), and antibiotics were used for chromosomal analysis. A total 30 metaphases images were captured using Olympus-BX51 microscope and analyzed using Bio-view karyotyping software through GTG-banding (G bands by trypsin and Giemsa) according to International System for Human Cytogenetic Nomenclature 2016. The results showed balanced translocation between short arm of chromosome # 3 and short arm of chromosome # 10. The karyotype of the child was found to be 46,XY,t(3;10)(p21; p13). Chromosomal abnormalities are one of the major causes of birth defect in new born babies. Also, balanced translocations are frequently observed in patients with secondary infertility or recurrent spontaneous abortion. The index case presented with dysmorphic facial features and had a balanced translocation 46,XY,t(3;10)(p21;p13). This translocation with break points at (p21; p13) has not been reported in the literature in a child with facial dysmorphism. To the best of our knowledge, this is the first report of novel balanced translocation t(3;10) with break points in a child with dysmorphic features. We found balanced chromosomal translocation instead of any trisomy or unbalanced aberrations along with some phenotypic abnormalities. Therefore, we suggest that such novel balanced translocation with abnormal phenotype should be reported in order to enable the pathologist, pediatrician, and gynecologist to have a better insight into the intricacies of chromosomal abnormalities and their associated phenotypic features. We hypothesized that dysmorphic features as seen in this case may be the result of change in the pattern of genes located at the breakpoint area in balanced translocations or may be due to deletion or mutation of genes located on the p-arm of chromosome # 3 and p-arm of chromosome # 10.

Keywords: balanced translocation, karyotyping, phenotypic abnormalities, facial dimorphisms

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Authors: Neerja Meena, Paresh Sukhani

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Dandy walker malformation is a generalised disorder of mesenchymal development that affect both the cerebellum and overlying meninges. Classically dandy-walker malformation consists of a triad of- 1:vermian and hemispheric cerebellar hypoplasia 2:cystic dilatation of 4th ventricle 3: enlarged posterior fossa with the upward migration of tentorium(lambdoid- torcular inversion). Clinical presentation: four months old female child with hydrocephalus and neurological symptoms. Generally- early death is common in classic dandy walker malformation. However, if it is relatively mild and uncomplicated by other CNS anomalies, intelligence can be normal and neurologic deficits minimal. Usually, VP shunting is the treatment of choice for this hydrocephalus. Conclusion: MRI is the modality of choice to diagnose posterior fossa malformation. However, it can be ruled out through using during the antenatal check as the prognosis of this malformation is not good; it's better to diagnose it inutero.

Keywords: Dandy Walker, Mri, Earlydaignosis, Treatment

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Authors: Dhivyalakshmi Gnanasekaran, Sonali Adole Prasante, Raveendranath Veeramamani, H. Y. Suma

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A rare case of intestinal malrotation with midline descending colon and right sided sigmoid colon was observed in an adult male cadaver aged around 55 years during routine dissection. The descending colon began from the splenic flexure and gradually descended downwards to occupy the midline position and turned to the right side to be continued as sigmoid colon at the level of the fifth lumbar vertebra. In the right iliac fossa some part of loop of sigmoid colon displaced into the right lumbar region before entering into the true pelvis to continue as rectum. This anomalous descending and sigmoid colon was supplied by varying branching pattern of inferior mesenteric artery. It is extremely important to consider this embryological anomaly before any interventional diagnostic procedures like colonoscopy and to enhance the safety of colonic surgery.

Keywords: sigmoid colon, descending colon, hindgut, malrotation

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Authors: Iliana Georganta, Clare Deehan, Marysia Thomson, Miriam McDonald, Kerrie McNulty, Anna Strachan, Elizabeth Anderson, Alyaa Mostafa

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Context: A meta-analysis of randomized controlled trials (RCTs) comparing hysterectomy versus endometrial ablation and resection in the management of heavy menstrual bleeding. Objective: To evaluate the clinical efficacy, satisfaction rates and adverse events of hysterectomy compared to more minimally invasive techniques in the treatment of HMB. Evidence Acquisition: A literature search was performed for all RCTs and quasi-RCTs comparing hysterectomy with either endometrial ablation endometrial resection of both. The search had no language restrictions and was last updated in June 2020 using MEDLINE, EMBASE, Cochrane Central Register of Clinical Trials, PubMed, Google Scholar, PsycINFO, Clinicaltrials.gov and Clinical trials. EU. In addition, a manual search of the abstract databases of the European Haemophilia Conference on women's health was performed and further studies were identified from references of acquired papers. The primary outcomes were patient-reported and objective reduction in heavy menstrual bleeding up to 2 years and after 2 years. Secondary outcomes included satisfaction rates, pain, adverse events short and long term, quality of life and sexual function, further surgery, duration of surgery and hospital stay and time to return to work and normal activities. Data were analysed using RevMan software. Evidence synthesis: 12 studies and a total of 2028 women were included (hysterectomy: n = 977 women vs endometrial ablation or resection: n = 1051 women). Hysterectomy was compared with endometrial ablation only in five studies (Lin, Dickersin, Sesti, Jain, Cooper) and endometrial resection only in five studies (Gannon, Schulpher, O’Connor, Crosignani, Zupi) and a mixture of the Ablation and Resection in two studies (Elmantwe, Pinion). Of the 1² studies, 10 reported women’s perception of bleeding symptoms as improved. Meta-analysis showed that women in the hysterectomy group were more likely to show improvement in bleeding symptoms when compared with endometrial ablation or resection up to 2-year follow-up (RR 0.75, 95% CI 0.71 to 0.79, I² = 95%). Objective outcomes of improvement in bleeding also favored hysterectomy. Patient satisfaction was higher after hysterectomy within the 2 years follow-up (RR: 0.90, 95%CI: 0.86 to 0.94, I²:58%), however, there was no significant difference between the two groups at more than 2 years follow up. Sepsis (RR: 0.03, 95% CI 0.002 to 0.56; 1 study), wound infection (RR: 0.05, 95% CI: 0.01 to 0.28, I²: 0%, 3 studies) and Urinary tract infection (UTI) (RR: 0.20, 95% CI: 0.10 to 0.42, I²: 0%, 4 studies) all favoured hysteroscopic techniques. Fluid overload (RR: 7.80, 95% CI: 2.16 to 28.16, I² :0%, 4 studies) and perforation (RR: 5.42, 95% CI: 1.25 to 23.45, I²: 0%, 4 studies) however favoured hysterectomy in the short term. Conclusions: This meta-analysis has demonstrated that endometrial ablation and endometrial resection are both viable options when compared with hysterectomy for the treatment of heavy menstrual bleeding. Hysteroscopic procedures had better outcomes in the short term with fewer adverse events including wound infection, UTI and sepsis. The hysterectomy performed better when measuring more long-term impacts such as recurrence of symptoms, overall satisfaction at two years and the need for further treatment or surgery.

Keywords: menorrhagia, hysterectomy, ablation, resection

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Authors: Y. Z. Gad

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Disorders of Sex Development (DSD) are defined as congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. The DSD are relatively prevalent in Egypt. In spite of that, the relative rarity of the individual disease types or their molecular pathologies frequently resulted in reporting on single or few cases. This augmented the challenging nature of phenotype-genotype correlation in this disease group and its utilization in the management of such medical emergency. Through critical assessment of the published DSD reports, the current review aims at analyzing the clinical characteristics of the various DSD forms in relation to the underlying molecular pathologies. A systematic literature search was done in Pubmed, using relevant keywords (Egypt versus DSD, genital ambiguity or ambiguous genitalia, the old terms of 'intersex, hermaphroditism and pseudohermaphroditism', and a list of the DSD entities and their related genes). The search yielded 24 reports of molecular data in Egyptian patients presenting with ambiguous genitalia. However, only 21 publications fulfilled the criteria of inclusion of detailed clinical descriptions and definitive molecular diagnoses of individual patients. Curation of the data yielded a total of 53 cases that were ascertained from 40 families. Fifty-one patients present with ambiguous genitalia only while 2 had multiple congenital anomalies. Parental consanguinity was noted in 60% of cases. Sex of rearing at initial presentation was female in 75% and 60% in 46,XY and 46,XX DSD cases, respectively. The external genital phenotype in 2/3 of the 46,XY DSD cases showed moderate undermasculinization [Quigley scores 3 & 4] and 1/3 had severe presentations [scores 5 & 6]. For 46,XX subjects, 1 had severe virilization of the external genitalia while 8 had moderate phenotype. Hormonal data were inconclusive or contradictory to final diagnosis in a forth of cases. Collectively, 31 families [31/40, 77.5%] with 46,XY DSD had molecular defects in the genes, 5 alpha reductase 2 (SRD5A2) [12/31], 17 beta-hydroxysteroid dehydrogenase 3 [8/31], androgen receptor [7/31], Steroidogenic factor 1 [2/31], luteinizing hormone receptor [1/31], and fibroblast growth factor receptor 1 [1/31]. In a multiethnic study, 9 families afflicted with 46,XX DSD due to 11 beta hydroxylase (CYP11B1) deficiency were documented. Two recurrent mutations, G34R and N160D, in SRD5A2 were present, respectively, in 42 and 17% of cases. Similarly, 4 recurrent mutations resulted in 89% of the CYP11B1 presentations. In conclusion, this analysis highlights the importance of autosomal recessive inheritance and inbreeding among DSD presentations, the importance of founder effect in at least 2 disorders, the difficulties in relating the genotype with the indeterminate genital phenotype, the under-reporting of some DSD subtypes, and the notion that the reported mutational profiles among Egyptian DSD cases are relatively different from those reported in other ethnic groups.

Keywords: disorders of sex development, genital ambiguity, mutation, molecular diagnosis, Egypt

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Authors: Bilal Ahmed

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Rehabilitation of congenital and acquired maxillofacial defects is always a challenging clinical scenario. These defects pose major physiological and psychological threat not only to the patient but to the entire family. There has been an enormous scientific development in maxillofacial rehabilitation with the advent of CAD CAM, 3-D scanning, Osseo-integrated implants and improved restorative materials. There are also specialized centers with latest diagnostic and treatment facilities in the developed countries. However, in certain clinical case scenarios, conventional prosthodontic principles are still the gold standards. Similarly in a less developed world, financial and technical constraints are factors affecting treatment planning and final outcomes. However, we can do a lot of benefits to the affected human beings, even with use of simple and cost-effective conventional prosthodontic techniques and materials. These treatment strategies may sometimes be considered as intermediate or temporary options, but with regular follow-up maintenance these can be used on a definitive basis.

Keywords: maxillofacial defects, obturators, prosthodontics, medical and health sciences

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Authors: Mohammad Alqattan, Tala Alkhunani, Reema Al, Aldawish, Felwa Almurshard, Abdullah Alzahrani

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: Poland’s Syndrome is a congenital anomaly with two clinical features : unilateral agenesis of the pectoralis major and ipsilateral hand symbrachydactyly. Case presentation: We report a rare case of bilateral Poland’s syndrome with several unique features. Discussion: Poland’s syndrome is thought to be due to a vascular insult to the subclavian axis around the 6th week of gestation. Our patient has multiple rare and unique features of Poland’s syndrome. Conclusion: To our best knowledge, for the first time in the literature we associate Poland’s syndrome with cone-shaped epiphysis of the metacarpals of all fingers. Bilaterality, cleft hand deformity, and dextrocardia, were also rare features in our patient.

Keywords: Poland's syndrome, cleft hand deformity, bilaterality, dextrocardia, cone-shaped epiphysis

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Authors: Pushpavathi M., Kavya V., Akshatha V.

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Introduction: Cleft lip and palate (CLP) is a congenital condition which hinders effectual communication due to associated speech and language difficulties. Expressive language delay (ELD) is a feature seen in this population which is influenced by factors such as type and severity of CLP, age at surgical and linguistic intervention and also the type and intensity of speech and language therapy (SLT). Since CLP is the most common congenital abnormality seen in Indian children, early intervention is a necessity which plays a critical role in enhancing their speech and language skills. The interaction between the timing of intervention and factors which contribute to effective intervention by caregivers is an area which needs to be explored. Objectives: The present study attempts to determine the effect of timing of intervention on the contributing maternal factors for effective linguistic intervention in toddlers with repaired CLP with respect to the awareness, home training patterns, speech and non-speech behaviors of the mothers. Participants: Thirty six toddlers in the age range of 1 to 4 years diagnosed as ELD secondary to repaired CLP, along with their mothers served as participants. Group I (Early Intervention Group, EIG) included 19 mother-child pairs who came to seek SLT soon after corrective surgery and group II (Delayed Intervention Group, DIG) included 16 mother-child pairs who received SLT after the age of 3 years. Further, the groups were divided into group A, and group B. Group ‘A’ received SLT for 60 sessions by Speech Language Pathologist (SLP), while Group B received SLT for 30 sessions by SLP and 30 sessions only by mother without supervision of SLP. Method: The mothers were enrolled for the Early Language Intervention Program and following this, their awareness about CLP was assessed through the Parental awareness questionnaire. The quality of home training was assessed through Mohite’s Inventory. Subsequently, the speech and non-speech behaviors of the mothers were assessed using a Mother’s behavioral checklist. Detailed counseling and orientation was done to the mothers, and SLT was initiated for toddlers. After 60 sessions of intensive SLT, the questionnaire and checklists were re-administered to find out the changes in scores between the pre- and posttest measurements. Results: The scores obtained under different domains in the awareness questionnaire, Mohite’s inventory and Mothers behavior checklist were tabulated and subjected to statistical analysis. Since the data did not follow normal distribution (i.e. p > 0.05), Mann-Whitney U test was conducted which revealed that there was no significant difference between groups I and II as well as groups A and B. Further, Wilcoxon Signed Rank test revealed that mothers had better awareness regarding issues related to CLP and improved home-training abilities post-orientation (p ≤ 0.05). A statistically significant difference was also noted for speech and non-speech behaviors of the mothers (p ≤ 0.05). Conclusions: Extensive orientation and counseling helped mothers of both EI and DI groups to improve their knowledge about CLP. Intensive SLT using focused stimulation and a parent-implemented approach enabled them to carry out the intervention in an effectual manner.

Keywords: awareness, cleft lip and palate, early language intervention program, home training, orientation, timing of intervention

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Authors: Nasreen Abdulmannan

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Fetal abnormalities are categorized as a structural abnormality, non-structural abnormality, or a combination of both. Fetal structural abnormalities (FSA) include, but are not limited, to Down syndrome, congenital diaphragmatic hernia, and cleft lip and palate. These abnormalities can be detected in the first weeks of pregnancy, which is almost around 9 - 20 weeks gestational. Etiological factors for FSA are unknown; however, transmitted genetic risk can be one of these factors. Consanguineous marriage often referred to as inbreeding, represents a significant risk factor for FSA due to the increased likelihood of deleterious genetic traits shared by both biological parents. In a country such as the Kingdom of Saudi Arabia (KSA), consanguineous marriage is high, which creates a significant risk of children being born with congenital abnormalities. Historically, the practice of consanguinity occurred commonly among European royalty. For example, Great Britain’s Queen Victoria married her German first cousin, Prince Albert of Coburg. Although a distant blood relationship, the United Kingdom’s Queen Elizabeth II married her cousin, Prince Philip of Greece and Denmark—both of them direct descendants of Queen Victoria. In Middle Eastern countries, a high incidence of consanguineous unions still exists, including in the KSA. Previous studies indicated that a significant gap exists in understanding the lived experiences of Saudi women dealing with an FSA-complicated pregnancy. Eleven participants were interviewed using a semi-structured interview format for this qualitative phenomenological study investigating the lived experiences of pregnant Saudi women carrying a child with FSA. This study explored the gaps in current literature regarding the lived experiences of pregnant Saudi women whose pregnancies were complicated by FSA. In addition, the researcher acquired knowledge about the available support and resources as well as the Saudi cultural perspective on FSA. This research explored the lived experiences of pregnant Saudi women utilizing Giorgi’s (2009) approach to data collection and data management. Findings for this study cover five major themes: (1) initial maternal reaction to the FSA diagnosis per ultrasound screening; (2) strengthening of the maternal relationship with God; (3) maternal concern for their child’s future; (4) feeling supported by their loved ones; and (5) lack of healthcare provider support and guidance. Future research in the KSA is needed to explore the network support for these mothers. This study recommended further clinical nursing research, nursing education, clinical practice, and healthcare policy/procedures to provide opportunities for improvement in nursing care and increase awareness in KSA society.

Keywords: fetal structural abnormalities, psychological distress, health provider, health care

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Authors: Aran Abd Al Rahman

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Joubert syndrome regards as a congenital cerebellar ataxia caused by autosomal recessive carried on X chromosome. The disease diagnosed by brain imaging—the so-called molar tooth sign. Neurological signs were present from the neonatal period and include hypotonia progressing to ataxia, global developmental delay, ocular motor apraxia, and breathing dysregulation. These signs are variably associated with multiorgan involvement, mainly of the retina, kidneys, skeleton, and liver. 30 causative genes have been identified so far, all of which encode for proteins of the primary cilium or its apparatus, The purpose of our project was to detect the mutant gene (INPP5E gene) which cause Joubert syndrome. There were many methods used for diagnosis such as MRI and CT- scan and molecular diagnosis by doing ARMS PCR for detection of mutant gene that we were used in this research project. In this research for individual family which reported, the two children with parents, the two children were affected and were carrier.

Keywords: Joubert syndrome, genetic disease, Kurdistan region, Sulaimani

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Authors: Jelena Maletkovic

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Background: Endogenous Cushing’s syndrome is a rare disease, but iatrogenic or drug related Cushing syndrome from glucocorticoid products is commonly seen in clinical practice. With high dose and long term use of glucocorticoids, patients can develop isolated hypothalamic-pituitary-adrenal (HPA) suppression, or HPA axis suppression can be accompanied by overt iatrogenic Cushing’s syndrome. This is a rare case where severe Cushing’s syndrome developed from an unknown medication and was followed by severe and prolonged adrenal insufficiency and multiple potentially fatal complications. Case: This is a 37-year-old woman who is presented to Emergency Room (ER) with shortness of breath and chest pain. Four months prior to this presentation the patient was a generally healthy woman who was looking for improvement in her appearance and visited local Rejuvenation Clinic. After initial consultation with a nurse, she was contacted by a physician over the phone and was advised to start taking multiple injectable medications that will arrive by mail. Medications without any labels on bottles were delivered and the patient started daily intramuscular injections. Over the next two months, she noticed rounding of her face and swelling around her eyes. She gained 20 pounds, mostly abdominal fat and became extremely fatigued. Her muscles on legs were visibly decreasing in size and she felt significant muscle weakness. Unexplained bruising occurred. She started growing hair on face and developed secondary amenorrhea. New severe back pain started. She developed depression and headaches. Finally, over a few days, a number of red-purple stretch marks that were sensitive and painful appeared over her abdomen, upper part of arms and legs. She then became suspicious that these dramatic symptoms are caused by injectable medication and she discontinued injections. Over the next few days she presented to ER with low blood pressure and oxygen saturation of 75%. Studies revealed extensive pneumonia as well as multiple pulmonary emboli. Her white blood count was elevated with 32 000 and she also had acute kidney failure on admission. She was treated for sepsis and was also given stress dose steroids. Steroids were tapered over 48 hours and discontinued. After being discharged to home, on her first visit to endocrinology clinic she had undetectable ACTH of < 2pg/mL and undetectable 8am cortisol of < 0.2mcg/dL. She did not respond to an intramuscular injection of cosyntropin 250mcg and her repeated cortisol after 60 minutes was only 1mcg/dL. The patient was diagnosed with adrenal insufficiency and was started on hydrocortisone 20mg+10mg. It took close to 2 years of slow tapering for recovery of this patient’s HPA axis and resolve all the sequelae from Cushing’s syndrome. Conclusion: Misuse and abuse of glucocorticoids have been present almost since these medications were discovered. This is a rare case where not only severe Cushing’s syndrome in full clinical picture developed but also the patient suffered multiple potentially fatal complications and prolonged adrenal insufficiency. Visits to herbal, rejuvenation, esthetic, and similar clinics are becoming more and more popular and physicians need to be aware of possible non-benign nature of medications that their patients may be using.

Keywords: iatrogenic, Cushing's syndrome, adrenal crisis, steroid abuse

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Authors: Munirah Ismail, Joon Hock Yeo

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Babies born with Tetralogy of Fallot, a congenital heart defect, are required to undergo reconstruction surgery to create a valved conduit. As the child matures, the partially reconstructed pulmonary conduit increases in diameter, while the size of the reconstructed valve remains the same. As a result, follow up surgery is required to replace the undersized valve. Thus, in this project, we evaluated the in-vitro performance of a bi-leaflet valve design in terms of percentage regurgitation with increasing artery (conduit) diameters. Results revealed percentage regurgitations ranging from 13% to 34% for conduits tested. It was observed that percentage of regurgitation increased exponentially with increasing diameters. While the amount of regurgitation may seem severe, it is deemed acceptable, and this valve could potentially reduce the frequency of re-operation in the lifetime of pediatric patients.

Keywords: pulmonary heart valve, tetralogy of fallot, expanded polytetrafluoroethylene valve, pediatric heart valve replacement

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Authors: Shirin Jalili, Ramin Ghasemi Shayan

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Coarctation of the aorta (CoA) may be a common (CHD), which is the seventh most common sort of CHD. Still, this is often likely a think little off since the determination may be deferred, indeed within the pediatric populace. The choice for surgical repair incorporates resection of the contracted section with end-to-end or end-to-side anastomosis, subclavian fold aortoplasty, resection, and join the intervention, or prosthetic fix aortoplasty. Drastically expanded end-to-end repair or switched subclavian fold aortoplasty can be utilized when the coarctation expands to the distal arch. Swell angioplasty can be a palliative choice sometime recently the conclusive redress. Its objective is to stabilize high-risk patients that cannot be submitted to quick surgical intercession, such as untimely newborns. For disconnected and discrete coarctations, it can, as a rule, be drawn nearer and repaired by means of cleared out thoracotomy, extraction of the infected aorta (coarctectomy), and remaking, ordinarily by amplified end-to-end anastomosis. In this article, we need to supply a diagram of current proposals and strategies utilized to picture coarctations of the aorta.

Keywords: coarctation of the aorta, congenital heart disease, strategies, surgical repair

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Authors: Jamie Lynn Co, Mary Shiela Ariola-Ramos

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Myroides are aerobic, yellow-pigmented, non-motile, non-fermenting gram-negative rods. They are commonly found in the environment such as water and soil. Although found in the environment, Myroides are rare pathogens of humans. Myroides spp. primarily infect immunocompromised patients, often with diabetes mellitus, liver cirrhosis, chronic kidney disease, chronic obstructive pulmonary disease or prolonged corticosteroid therapy. We present a case of a 70-year-old immunocompromised patient with diabetes mellitus, chronic renal failure, diagnosed with sepsis caused by Myroides spp. The primary portal and source of infection were the pustules and boils found on the lower extremities of the patient. Susceptibility testing showed that our isolate was only susceptible to ciprofloxacin and meropenem; and following the treatment, the patient recovered. Myroides continues to be a rare pathogen of humans that is prevalent in our environment. It primarily affects immunocompromised patients such as those with uncontrolled diabetes mellitus, chronic kidney disease, etc. Despite their low virulence, physicians should consider this opportunistic pathogen as possible etiologic agent especially in cases wherein there is lack of response to commonly used antibiotics.

Keywords: bacteremia, immunocompromised, gram negative rods, Myroides

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Authors: Tomaz Oliveira, Rui Medeiros, André Lacerda

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Introduction: Cleft lip and/or palate are the most frequent forms of congenital craniofacial anomalies, affecting mainly the middle third of the face and manifesting by functional and aesthetic changes. Bilateral cleft lip represents a reconstructive surgical challenge, not only for the labial component but also for the associated nasal deformation. Recently, the paradigm of the approach to this pathology has changed, placing the focus on muscle reconstruction and anatomical repositioning of the nasal cartilages in order to obtain the best aesthetic and functional results. The aim of this study is to carry out a systematic review of the surgical approach to bilateral cleft lip, retrospectively analyzing the case series of Plastic Surgery Service at Hospital Santa Maria (Lisbon, Portugal) regarding this pathology, the global assessment of the characteristics of the operated patients and the study of the different surgical approaches and their complications in the last 20 years. Methods: The present work demonstrates a retrospective and descriptive study of patients who underwent at least one reconstructive surgery for cleft lip and/or palate, in the CPRE service of the HSM, in the period between January 1 of 1997 and December 31 of 2017, in which the data relating to 361 individuals were analyzed who, after applying the exclusion criteria, constituted a sample of 212 participants. The variables analyzed were the year of the first surgery, gender, age, type of orofacial cleft, surgical approach, and its complications. Results: There was a higher overall prevalence in males, with cleft lip and cleft palate occurring in greater proportion in males, with the cleft palate being more common in females. The most frequently recorded malformation was cleft lip and palate, which is complete in most cases. Regarding laterality, alterations with a unilateral labial component were the most commonly observed, with the left lip being described as the most affected. It was found that the vast majority of patients underwent primary intervention up to 12 months of age. The surgical techniques used in the approach to this pathology showed an important chronological variation over the years. Discussion: Cleft lip and/or palate is a medical condition associated with high aesthetic and functional morbidity, which requires early treatment in order to optimize the long-term outcome. The existence of a nasolabial component and its respective surgical correction plays a central role in the treatment of this pathology. The high rates of post-surgical complications and unconvincing aesthetic results have motivated an evolution of the surgical technique, increasingly evident in recent years, allowing today to achieve satisfactory aesthetic results, even in bilateral cleft lip with high deformation complexity. The introduction of techniques that favor nasolabial reconstruction based on anatomical principles has been producing increasingly convincing results. The analyzed sample shows that most of the results obtained in this study are, in general, compatible with the results published in the literature. Conclusion: This work showed that the existence of small variations in the surgical technique can bring significant improvements in the functional and aesthetic results in the treatment of bilateral cleft lip.

Keywords: cleft lip, palate lip, congenital abnormalities, cranofacial malformations

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Authors: Rodrigo C. Belleza, Jr., Roselyn A. Maaño, Karl Patrick E. Camota, Darwin Kim Q. Bulawan

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Eyes are an essential and conspicuous organ of the human body. Human eyes are outward and inward portals of the body that allows to see the outside world and provides glimpses into ones inner thoughts and feelings. Inevitable blindness and visual impairments may result from eye-related disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means. The study emphasizes innovative tools that will serve as an aid to the blind and visually impaired (VI) individuals. The researchers fabricated a prototype that utilizes the Microsoft Kinect for Windows and Arduino microcontroller board. The prototype facilitates advanced gesture recognition, voice recognition, obstacle detection and indoor environment navigation. Open Computer Vision (OpenCV) performs image analysis, and gesture tracking to transform Kinect data to the desired output. A computer vision technology device provides greater accessibility for those with vision impairments.

Keywords: algorithms, blind, computer vision, embedded systems, image analysis

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Authors: Rania Abdulkareem Aboubakr Mahdaly Ammar

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The aortic valve (AV) is a complex mechanical environment that includes flexure, tension, pressure and shear stress forces to blood flow during cardiac cycle. This mechanical environment regulates AV tissue structure by constantly renewing and remodeling the phenotype. In vitro, ex vivo and in vivo studies have explained that pathological states such as hypertension and congenital defects like bicuspid AV ( BAV ) can potentially alter the AV’s mechanical environment, triggering a cascade of remodeling, inflammation and calcification activities in AV tissue. Changes in mechanical environments are first sent by the endothelium that induces changes in the extracellular matrix, and triggers cell differentiation and activation. However, the molecular mechanism of this process is not very well understood. Understanding these mechanisms is critical for the development of effective medical based therapies. Recently, there have been some interesting studies on characterizing the hemodynamics associated with AV, especially in pathologies like BAV, using different experimental and numerical methods. Here, we review the current knowledge of the local AV mechanical environment and its effect on valve biology, focusing on in vitro and ex vivo approaches.

Keywords: aortic valve mechanobiology, bicuspid calcification, pressure stretch, shear stress

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Authors: Jyoti Agrawal

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Introduction: Renal diseases in children and young adult can be difficult to diagnose early as it may present only with few symptoms, tends to have different course than adult and respond variously to different treatment. The pattern of renal disease in children is different from developing countries as compared to developed countries. Methods: This study was a hospital based prospective observational study carried from March, 2014 to February 2015 at BP Koirala institute of health sciences. Patients with renal disease, both inpatient and outpatient from birth to 14 years of age were enrolled in the study. The diagnosis of renal disease was be made on clinical and laboratory criteria. Results: Total of 120 patients were enrolled in our study which contributed to 3.74% % of total admission. The commonest feature of presentation was edema (75%), followed by fever (65%), hypertension (60%), decreased urine output (45%) and hematuria (25%). Most common diagnosis was acute glomerulonephritis (40%) followed by Nephrotic syndrome (25%) and urinary tract infection (25%). Renal biopsy was done for 10% of cases and most of them were steroid dependent nephrotic syndrome. 5% of our cases expired because of multiorgan dysfunction syndrome, sepsis and acute kidney injury. Conclusion: Renal disease contributes to a large part of hospital pediatric admission as well as mortality and morbidity to the children.

Keywords: glomerulonephritis, nephrotic syndrome, renal disease, urinary tract infection

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Authors: Mohamed Bakry Mohamed Ali, Mohamed Ehab El-Din Mustafa, Joseph Naiem Sabet Aziz, Sarah Mahmoud Ali Kaooh

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Background: Acute lung injury (ALI) is one of the major challenges in intensive care medicine. The most common extrapulmonary cause of ALI is sepsis, accounting more than 30% of the cases in humans. Lipopolysaccharide (LPS) has gained wide acceptance as a clinically relevant model of ALI. Lipopolysaccharide is a glycoprotein forming the major constituent of bacterial endotoxin. Losartan is angiotensin II type 1 (AT1) receptor antagonists. It is widely used for management of hypertension. It was recently suggested that losartan protects against septic ALI. It would thereby prevent LPS-induced ALI. Aim of the work and design of the experiment: This work investigated the injurious effect of lipopolysaccharide (LPS) and ALI on adult male albino rat at 24 hours and 14 days of LPS administration and the possible protective role of losartan pretreatment. LPS has deteriorated animal survival and behavior. It increased lung weight and induced lung histological damage. These changes could be much reduced by the losartan pretreatment. Conclusion: Administration of losartan before LPS could largely reduce these LPS/ ALI induced short and long term alterations. It could be recommended that patients susceptible to developing ALI, as in ICU, should receive a protective dose of angitensin II type 1 (AT1) receptor blocker as losartan.

Keywords: acute lung injury (ALI), lipopolysaccharide (LPS), losartan

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Authors: Mukesh Roy, Basant Singh Sikarwar, Ravi Prakash, Priya Ranjan, Ayush Goyal

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More than 11% of people suffer from weakness in the bone resulting in inability in walking or climbing stairs or from limited upper body and limb immobility. This motivates a fresh bio-mimicking solution to the design of an exo-skeleton to support human movement in the case of partial or total immobility either due to congenital or genetic factors or due to some accident or due to geratological factors. A deeper insight and detailed understanding is required into the workings of the ball and socket joints. Our research is to mimic ball and socket joints to design snugly fitting exoskeletons. Our objective is to design an exoskeleton which is comfortable and the presence of which is not felt if not in use. Towards this goal, a parametric study is conducted to provide detailed design parameters to fabricate an exoskeleton. This work builds up on real data of the design of the exoskeleton, so that the designed exo-skeleton will be able to provide required strength and support to the subject.

Keywords: bio-mimicking, exoskeleton, ball joint, socket joint, artificial limb, patient rehabilitation, joints, human-machine interface, wearable robotics

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