INTERNATIONAL JOURNAL OF MEDICAL SCIENCE AND CLINICAL RESEARCH STUDIES最新文献

{"title":"Risk Factors for Sepsis in Postoperative Patients","authors":"Donovan Diego Ruiz Baltazar, Sheccid Sahian Bustamante Aldama, Mariana García Morales, Francisco Javier Delgado Dávalos, Chávez Maldonado Jorge Alberto, Trujillo Martínez Rosalba, Sergio González Ramírez, Paulina Gutiérrez Valladares, Ara Massiel Huete Tercero, Antonio Valencia Vega, Bernardo Sepulveda Ferrer, Victor Mario Martínez Bravo","doi":"10.47191/ijmscrs/v4-i05-10","DOIUrl":"https://doi.org/10.47191/ijmscrs/v4-i05-10","url":null,"abstract":"Sepsis is a severe acute infection that can lead to organ failure and mortality in 30-50% of patients. It ranks among the top 10 causes of mortality in the United States and has increased significantly since the 1970s. Postoperative sepsis, the primary type of sepsis, accounts for almost one-third of all sepsis cases. Postoperative sepsis is a major cause of illness and death for hospitalized patients, often leading to multiple organ failure and mortality. A study found that patients aged 18 years or older who have undergone surgical interventions and have been hospitalized for at least 4 days after the operation have a higher likelihood of developing sepsis. The most prevalent complication after radical gastrectomy for stomach cancer is postoperative infection, which occurs through leukocyte depletion in transfusion patient. Being male or over 65 significantly increased the likelihood of having postoperative sepsis. Sex hormones significantly influence the body's response to sepsis, and elderly individuals may be more susceptible due to deterioration of immune system function and age-related immunosenescence. Chronic renal illness, diabetes, and chronic heart failure have the highest risks of developing postoperative sepsis, ranked first, second, and third, respectively. Dysfunctions in the cardiovascular and hematological systems also have the highest probability of leading to the development of postoperative sepsis. These findings suggest potential areas for future research to decrease the impact of the disease.","PeriodicalId":502774,"journal":{"name":"INTERNATIONAL JOURNAL OF MEDICAL SCIENCE AND CLINICAL RESEARCH STUDIES","volume":"113 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141116067","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Thoracic Wall Reconstruction with Thoracoabdominal Flap","authors":"Yasmin Sánchez Delgado, Christian Enrique Soulé Martínez, Héctor Manuel Suárez Ortega, Juan Jesús Ortega Landeros, María del Rocío Barrera Figueroa, Víctor Mario Martínez Bravo, Giselle Castillo Garcia, Rogelio Rodríguez Cárdenas, César Enrique Pedraza Falcón, Álvaro Sebastián Gutiérrez Macklis, Ariadna Martínez Becerril, Karla Patricia Montoya Moreno, Fernanda Berenice Ramírez García","doi":"10.47191/ijmscrs/v4-i05-12","DOIUrl":"https://doi.org/10.47191/ijmscrs/v4-i05-12","url":null,"abstract":"Reconstructing the chest wall following substantial surgical removal is a challenging task for thoracic, oncologic, and reconstructive surgeons. Common indications include breast cancer, radionecrosis, and malignancies affecting fascia, muscle, and sometimes the ribs. Skin grafts are not a favorable choice due to their thinness and unsuitability of the recipient site. Over the past 30 years, a wide range of flaps have been created to achieve sufficient covering and protection of intrathoracic structures.The Tai and Hasegawa technique, developed in 1974, involves using a transverse fasciocutaneous flap taken from the same side of the body in the thoracoabdominal region. Davis and McCraw made modifications to this technique in 1977, and Brown and Vasconez in 1975 revealed the presence of musculocutaneous perforator branches originating from subcostal, intercostal, and lumbar arteries. Baroudi introduced a contralateral thoracoabdominal fasciocutaneous flap in 1978.In the 1980s, muscular and musculocutaneous flaps became widely accepted as the best method for reconstructing the chest wall. However, there have been limited comparison studies published, making it difficult to determine whether musculocutaneous flaps are preferable than fasciocutaneous flaps. Deo et al. (2019) proposed that the fasciocutaneous \"thoracoabdominal\" flap should be considered as the primary choice.The extended cutaneous thoracoabdominal flap is a straightforward and efficient surgery that can be completed in a single step. It is generally safe and rarely results in tissue death, and its generous mobility and \"back-cut\" incision facilitate advancement and rotation. However, it has drawbacks such as the inability to carry out an instant breast reconstruction and the presence of lengthy scars on the abdominal wall.","PeriodicalId":502774,"journal":{"name":"INTERNATIONAL JOURNAL OF MEDICAL SCIENCE AND CLINICAL RESEARCH STUDIES","volume":"47 16","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141113496","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Duodenal-Jejunal Stenosis as a Manifestation of Eosinophilic Gastroenteritis: A Case Report","authors":"Paola Carolina Castellanos Escalante, Alexis Emir Noguera Echeverría, Hugo Cámara Combaluzier, María Fernanda Ibarra Guerrero, Elly Carolina Carrillo Arriola, Alexis López Alonso, Minerva Jiménez Reyes, Leonardo Jiménez Reyes","doi":"10.47191/ijmscrs/v4-i05-14","DOIUrl":"https://doi.org/10.47191/ijmscrs/v4-i05-14","url":null,"abstract":"Introduction: Eosinophilic gastroenteritis (EGE) is a rare disorder characterized by eosinophilic infiltration of the stomach and small intestine. Its clinical manifestations depend on the extent, location, and depth of the inflammatory infiltrate. The pathogenesis remains unclear, but it may be related to food allergy or other hypersensitivity reactions in some patients. Untreated cases can cause intestinal stricture or perforation, making timely diagnosis and intervention essential. Clinical case: A 13-year-old male adolescent was hospitalized due to symptoms suggesting intestinal obstruction or alterations in intestinal motility. Medical imaging revealed significant gastric distension and delayed gastric emptying. An endoscopic study showed a “snake-skin” pattern, duodenitis due to food stasis, a 2 cm ulcer, and stenosis in the duodenum. The biopsy confirmed EGE with significant irregular eosinophilic infiltration of the lamina propria. A panendoscopy was performed after steroid treatment without being able to assess the site of stenosis and perform pneumatic dilation. After completing the immunomodulatory management, a contrast-enhanced abdominal tomography was performed showed a significant decrease in the intestinal lumen, therefore an exploratory laparotomy with a lateral to lateral jejune-jejunal anastomosis was performed. Discussion: EGE is a rare inflammatory disorder characterized by eosinophilic infiltration of the stomach and small intestine. Symptoms are based on the affected gastrointestinal tract segment. In this case, our patient presented intestinal obstruction symptoms with endoscopic biopsies and a histopathological study confirmed eosinophil infiltration. Treatment typically involves identifying potential triggers and corticosteroids to reduce inflammation and symptoms. However, in this case, a decrease in the intestinal lumen was observed, therefore an elective surgical resection was performed. Conclusion: Eosinophilic gastroenteritis is a rare disorder that requires strong clinical suspicion to be diagnosed, which is why its knowledge is important. In this case, gastrointestinal symptoms, radiological and endoscopic images, in addition to the histopathological report, were key tools for integrating the diagnosis. Although management with steroids and immunomodulators was not successful, surgical management became an appropriate option as definitive treatment.","PeriodicalId":502774,"journal":{"name":"INTERNATIONAL JOURNAL OF MEDICAL SCIENCE AND CLINICAL RESEARCH STUDIES","volume":"22 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141119743","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Platelet Rich Fibrin Membrane as Nerve Guidance Conduit for Reconstruction Case with Nerve Repair Based Morphometric and Electrophysiologic Parameters: A Systematic Review and Meta-Analysis","authors":"Andi Muh. Octavian Pratama, Pratidina Wulandari, Asrofi S. Surachman","doi":"10.47191/ijmscrs/v4-i05-16","DOIUrl":"https://doi.org/10.47191/ijmscrs/v4-i05-16","url":null,"abstract":"Introduction: Motor or sensory nerve injury is a major surgical and clinical challenge, often with disappointing results and impairing sensory and motor function. Now there are some studies to looking for ways to accelerate nerve regeneration. Platelet-rich fibrin (PRF) is made from an autologous platelet concentrate that contains progenitor cells that are essential for the healing process, along with neurotrophic factors and several growth factors. Additionally, PRF can be manufactured in the membrane form that can be wrapped around nerves in the form of tubes which tubulation has many advantages such as guiding growth within the tubular shape to improve regenerative capacity. Methods: This systematic review and meta-analysis was conducted as per the Preferred Reporting Items for Systematic Review and Meta-Analysis (PRISMA) guidelines. A systematic, detailed search was carried out by the authors in the electronic databases, including PubMed, Cochrane, Research Gate, Elsevier, and PRS Journal. Studies were selected and compared based on outcome measures like Morphometric (Axon Area and Myelin Sheath Thickness) and Electrophysiologic (Amplitude and Nerve Conduction Velocity). Statistical analysis was performed using a random- effect model, pooled standard mean difference and I2 heterogeneity. Result: Four randomized studies with analyzed 4 parameters, those are Morphometric (Axon Area and Myelin Sheath Thickness) and Electrophysiologic (Amplitude and Nerve Conduction Velocity). Pooled analysis for the outcome like Myelin Sheath Thickness, Axon Area, and Amplitude showed a significant result in groups with PRF. Pooled analysis for outcome of Nerve Conduction Velocity showed no significant difference between the groups with PRF and without PRF (SMD: 0.01; 95% CI: -0.64. 0.65) with P = 0.99. Conclusion: This Meta-analysis shows that PRF membrane as nerve guidance conduit is promising method and can improve function outcome in nerve repair specially in Morphometric and Electrophysiologic parameters but outcome of Nerve Conduction Velocity showed no significant in this study.","PeriodicalId":502774,"journal":{"name":"INTERNATIONAL JOURNAL OF MEDICAL SCIENCE AND CLINICAL RESEARCH STUDIES","volume":"27 24","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141120930","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sweet Syndrome: A Comprehensive Review of Pathogenesis, Clinical Manifestations, Diagnosis, and Management Strategies","authors":"Donaldo Emiliano Silva López, Alma Alejandra Solano Mendoza, María Fernanda Romero Rivera, José Antonio Velarde Chávez, Mayra Aréchiga López, Ana Isabel Díaz de León Guzmán","doi":"10.47191/ijmscrs/v4-i05-15","DOIUrl":"https://doi.org/10.47191/ijmscrs/v4-i05-15","url":null,"abstract":"Sweet syndrome, also known as acute febrile neutrophilic dermatosis, is a rare and inflammatory disorder characterized by fever, neutrophilia, and tender, erythematous skin lesions. The pathogenesis of Sweet syndrome involves an exaggerated immune response, with evidence suggesting a role for cytokines, particularly granulocyte colony-stimulating factor (G-CSF). Clinical manifestations vary widely, but commonly include abrupt onset of painful, raised plaques or nodules, often on the upper limbs, face, or neck. Histopathological examination reveals dense neutrophilic infiltrates in the dermis without evidence of vasculitis. Diagnosis is primarily clinical, supported by histopathology and exclusion of other similar conditions. Treatment typically involves corticosteroids, which often lead to rapid resolution of symptoms. However, relapses are common, necessitating long-term management strategies. This review aims to provide a comprehensive overview of the pathogenesis, clinical manifestations, diagnosis, and management of Sweet syndrome, highlighting recent advancements and areas requiring further research.","PeriodicalId":502774,"journal":{"name":"INTERNATIONAL JOURNAL OF MEDICAL SCIENCE AND CLINICAL RESEARCH STUDIES","volume":"46 23","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141118546","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Significance of Quality in Health Services","authors":"Mohammad Alshugeer, Majed Nasser Bin Dokhi, Ahmed Radwan Ashiya, Ahmed Abdullah Aljawayan, Reem Abdulaziz Abuhaimed, Meshal Bdai Alsuhali, Turki Hamoud Almuhaesen, Maha Saleh Mohammed Alhassar, A. Y. Aqeeli, Ibrahim Zaid Ibrahim Almgli, Nadia Mubarak Alharthy, Afaf Ali Abdullah Hamdi","doi":"10.47191/ijmscrs/v4-i05-07","DOIUrl":"https://doi.org/10.47191/ijmscrs/v4-i05-07","url":null,"abstract":"Introduction: Businesses and organizations in the current period strive to thrive in a fiercely competitive environment by attracting a maximum number of consumers. Purpose: This review study seeks to examine the definition of quality in health care with the goal of promoting health. Materials and Methods: The methodology employed involved doing a comprehensive literature search of review and research studies in internationally recognized databases such as Medline, Pubmed, and Cinahl. The articles were excluded based on the criterion that they were written in a language other than English. Results: The concept of health is intricate, making it challenging to establish a precise and unambiguous definition of excellence in healthcare. Quality in healthcare is an essential focus for scientists, organizations, and healthcare personnel, as well as for individuals who receive these services. Conclusions: Undoubtedly, quality in health services is an increasingly demanding first-priority need.","PeriodicalId":502774,"journal":{"name":"INTERNATIONAL JOURNAL OF MEDICAL SCIENCE AND CLINICAL RESEARCH STUDIES","volume":"24 12","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141122671","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Use of Minimally Invasive Surgery in the Treatment of Crohn's Disease: A Systematic Review of Evidence","authors":"Cinthya Cecilia Ulloa Abad, Dayana Belén Llumigusín Llumiquinga, Héctor Josué Ruano Imbaquingo, Robert Adan Lalama Rueda, Juan Esteban Lalama Rueda, José Daniel Nuñez Moreno, Iber Ivan Zambrano Zambrano","doi":"10.47191/ijmscrs/v4-i05-17","DOIUrl":"https://doi.org/10.47191/ijmscrs/v4-i05-17","url":null,"abstract":"Minimally invasive surgery (MIS) is a groundbreaking approach for treating Crohn's disease (CD), affecting approximately 100-300 per 100,000 people. In 2015, an estimated 3.1 million people were diagnosed with Inflammatory Bowel Disease (IBD). Our research aims to consolidate previous evidence on MIS techniques, including laparoscopic techniques and robotic-assisted surgery, and compare them to traditional surgical techniques in managing CD. The practical benefits of MIS are evident in comparative studies, which consistently show that laparoscopic approaches result in shorter hospital stays and faster recovery than open surgery. MIS also demonstrates significant long-term benefits, particularly in reducing the mortality rate. Even pediatric CD patients have shown improved outcomes with laparoscopic-assisted surgery, experiencing fewer postoperative complications and better recovery. MIS applications include Laparoscopic ileocolic resections, a key MIS technique, offer comparable outcomes to other therapies like open ileocolic resection but with the added advantages of lower costs and long-term disease control. This cost-effectiveness of MIS techniques is a significant advantage. Techniques like intracorporeal anastomosis and trans colonic specimen removal have further improved postoperative recovery and cosmesis. Strictureplasty is another MIS technique, is particularly beneficial for CD patients with strictures due to its ability to preserve intestinal length and function. Lastly, laparoscopic robotic-assisted surgery is a game-changer, offering a significant reduction in postoperative pain and faster recovery compared to manual surgeries.","PeriodicalId":502774,"journal":{"name":"INTERNATIONAL JOURNAL OF MEDICAL SCIENCE AND CLINICAL RESEARCH STUDIES","volume":"36 18","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141122263","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Endomyocardial Fibrosis Secondary to Chronic Eosinophilic Leukemia: Case Report","authors":"Yasmin Tourinho Delmondes Trindade, Caio Oliveira Bastos, Mariana Garcez da Cruz, Leda Maria Delmondes Freitas Trindade, Luiz Flávio Galvão Gonçalves, José Augusto Soares Barreto Filho, Milena dos Santos Barros Campos","doi":"10.47191/ijmscrs/v4-i05-13","DOIUrl":"https://doi.org/10.47191/ijmscrs/v4-i05-13","url":null,"abstract":"Endomyocardial fibrosis (EMF) is characterized by fibrosis of the endomyocardium of one or both ventricles and atrioventricular valves. Progressive fibrosis leads to irreversible restrictive cardiomyopathy, progressing to heart failure (HF), thromboembolic phenomena, and arrhythmias. It is one of the main complications of chronic eosinophilic leukemia (CEL), resulting from intense eosinophilic infiltration into cardiac tissue. This case is of a 34-year-old male patient with past medical history of CEL, who developed EMF and severe heart failure, NYHA (New York Heart Association) IV, and underwent endocardectomy and mitral and tricuspid valvuloplasty. After the procedure, he improved to NYHA II, initiated cardiovascular rehabilitation, and returned to daily activities.","PeriodicalId":502774,"journal":{"name":"INTERNATIONAL JOURNAL OF MEDICAL SCIENCE AND CLINICAL RESEARCH STUDIES","volume":"83 7","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141123007","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hematophagocytic Syndrome in a Patient Co-Infected With HIV: A Case Report","authors":"Romero-Sánchez Alan Jesús, Pérez Licona Cristal Dánae, Velázquez Orozco Paola, Pérez García José Antonio","doi":"10.47191/ijmscrs/v4-i05-11","DOIUrl":"https://doi.org/10.47191/ijmscrs/v4-i05-11","url":null,"abstract":"Introduction: Hemophagocytic syndrome is a severe disease characterized by a state of systemic hyperinflammation with overproduction of cytokines. It can respond to genetic causes (primary) or be triggered by infections, drugs, neoplasms or autoimmune diseases. With increased mortality. We present the case of a patient with HIV who developed hemophagocytic syndrome during hospitalization. Case presentation: We present the case of a male patient with human immunodeficiency virus who developed hemophagocytic syndrome with lymphadenopathies and biopsy report concluding the syndromic suspicion. Conclusions: Our case report reflects the clinical and biochemical approach to hemophagocytic syndrome, in which the realization of a histopathological diagnosis was determinant to reflect the cause of the disease in question, we denote the importance of clinical suspicion in infrequent situations related to the patient with immunodeficiency.","PeriodicalId":502774,"journal":{"name":"INTERNATIONAL JOURNAL OF MEDICAL SCIENCE AND CLINICAL RESEARCH STUDIES","volume":"2 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141119522","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Leukodytrophy in Children: 12 Cases","authors":"S. Esseddiki, I. Chahid, F. Harim, A. Abkari, A. Bousfiha","doi":"10.47191/ijmscrs/v4-i05-08","DOIUrl":"https://doi.org/10.47191/ijmscrs/v4-i05-08","url":null,"abstract":"Introduction: Leukodystrophies are a rare geneLc disease characterized by damage of the myelin sheath. They represent a large number of diseases that are heterogeneous by their clinical and physiopathological aspects. Material and Methods: We report 12 cases of leukodystrophies collected at the Neuropediatric Unit of Abderrahim Harouchi Mother and Child Hospital CHU Ibn Rochd, Casablanca, Morocco. Results: The average age of diagnosis was 2 years and 9 months, with a predominance of females (sex raLo:0.33). Consanguinity was found in 5 cases. The onset symptomatology was dominated by psychomotor regression, found in 8 paLents, and seizures in 4 paLents. Motor signs were in the foreground: pyramidal syndrome in 5 cases, hypotonia in 4 cases, tetraparesis in 1 case, dysarthria in 1 case. The lumbar puncture, carried out in 4 paLents, revealed hyperproteinorachy in 3 cases, glycorachy and cytological study were normal. We noLced a decreased level of Aryllsulfatase A in 6 cases. Imaging was performed in all paLents and showed diffuse white ma]er demyelinaLon. MRI allowed us to classify our cases and showed 7 cases of metachromaLc leukodystrophy, 1 case of cavitary leukodystrophy, 1 case of Refsum disease, 1 case of Canavan disease, 1 case of Cockaynes syndrome and 1 case of adrenoleukodystrophy. The electroneuromyogram showed a decrease in nerve conducLon velociLes in 2 cases. Molecular study was performed in one paLent finding a hyccin mutaLon. Conclusion: The diagnosis of leukodystrophies is o_en difficult because of their clinical heterogeneity. The partnership of clinicians with geneLcists may be the key point to improve diagnosis and therapeuLc management.","PeriodicalId":502774,"journal":{"name":"INTERNATIONAL JOURNAL OF MEDICAL SCIENCE AND CLINICAL RESEARCH STUDIES","volume":"12 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141121163","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}