SAS Journal of Medicine最新文献

{"title":"Late Infantile Metachromatic Leukodystrophy: Arylsulfatase A and Saposin B Deficiency","authors":"A. Ourrai, H. Bella, A. Radi, A. Hassani, A. Agadr, R. Abilkassem","doi":"10.36347/sasjm.2024.v10i02.013","DOIUrl":"https://doi.org/10.36347/sasjm.2024.v10i02.013","url":null,"abstract":"Metachromatic leukodystrophy is a genetic neurodegenerative disease with autosomal recessive transmission. It is characterized by an accumulation of sulfatides. We report a case of leukodystrophy related to a deficiency in saposin B. The diagnosis was suspected based on the initial clinical presentation, the progressive nature of the symptoms, involvement of both the central and peripheral nervous systems, and the typical radiological appearance on cerebral MRI. The normal arylsulfatase A levels led us to consider performing thin-layer chromatography of glycosphingolipids in urinary sediment to investigate a saposin B deficiency. The substantial excretion of sulfatides in our patient is virtually pathognomonic for metachromatic leukodystrophy due to saposin B activator deficiency. The diagnosis was definitively confirmed through molecular biology, which revealed the IVS+1 g>a mutation.","PeriodicalId":193141,"journal":{"name":"SAS Journal of Medicine","volume":"78 ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140449751","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":"Cri Du Chat Syndrome: A Case Study","authors":"H. Bella, A. Ourrai, A. Radi, A. Hassani, A. Agadr, R. Abilkassem","doi":"10.36347/sasjm.2024.v10i02.012","DOIUrl":"https://doi.org/10.36347/sasjm.2024.v10i02.012","url":null,"abstract":"Cri du Chat syndrome (CdCS) is a chromosomal abnormality resulting from a deletion of variable size at the end of the short arm of chromosome 5 (5p), including a critical region located at p15.2. It is one of the most common chromosomal deletions, with an incidence in the general population of between 1:20,000 and 1:50,000. Clinical features include an acute monochromatic cry, microcephaly, characteristic craniofacial dysmorphia progressing with age and significant mental and psychomotor retardation. The size of the deletion varies, and treatment depends on the various symptoms. Parental chromosomal rearrangement is found in 12% of cases and the majority of deletions responsible for cri-du-chat disease occur de novo. We present an observation of a Cri du Chat syndrome, confirmed by metaphasic karyotype (46, XY,del(5)(p13) de novo). Through this observation we will update the scientific news of this rare syndrome, as well as the place of cytogenetic explorations in the precise diagnosis and genetic counselling of dysmorphic syndromes.","PeriodicalId":193141,"journal":{"name":"SAS Journal of Medicine","volume":"26 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140450109","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":"Optimism among Medical Students at the Faculty of Medicine and Pharmacy in Casablanca","authors":"Adelin Niyonsaba, Zineb Boubekri, Fatima Zahra Mouzoun, Hind Berrami, Amal Barkouk, Nouha Belayachi, Manar Jallal, Z. Serhier, M. B. Othmani","doi":"10.36347/sasjm.2024.v10i02.011","DOIUrl":"https://doi.org/10.36347/sasjm.2024.v10i02.011","url":null,"abstract":"Background: Optimism plays a crucial role in the journey of medical students. A high degree of optimism can translate into commendable academic outcomes, while a diminished level may precipitate setbacks. multiple factors can exert influence on the optimism levels of students, thereby impacting their academic achievements. Objective: To describe the level of optimism and explore the factors that impact the optimism levels in medical students. Methodology: A cross-sectional study was conducted at the Faculty of Medicine and Pharmacy in Casablanca from June to July 2023. A random sampling method was used to enroll the study participants, and data were collected through self-administered questionnaires encompassing sociodemographic characteristics, academic performance, lifestyle practices, self-esteem, social support, and optimism score. Statistical analyses incorporated Chi-square test, Student's t-test, Mann-Whitney test, ANOVA, and correlations. Results: In total, 234 participants responded to the questionnaire, 64.5% of which were female. The average age was 20.4 years (±1.8). The majority of the students came from a medium socio-economic level (88.9%) and lived with their parents (76.9%). The primary sources of subsistence were predominantly familial, (59.8%). Academic challenges were evident, with 5.6% of the students experiencing repetition and 42.7% requiring catch-up exams. The median number of friends per student stood at 3 (IQR=3), and a considerable proportion engaged in leisure activities (55.1%) and physical activities (51.7%). Stress was prevalent among 64.5% of students, while 19.3% grappled with chronic illnesses. Instances of trauma, psychiatric consultations, contemplation of seeking help (48.2%), and psychiatric treatments (10.6%) were also reported. The mean optimism score was 13.5 (±3.8 SD), indicating a modest level of optimism. Notably, 51.5% exhibited a low level of optimism, 37.3% a moderate level, and 11.6% a high level. Optimism scores ....","PeriodicalId":193141,"journal":{"name":"SAS Journal of Medicine","volume":"411 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140454298","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":"Neuromeningeal Tuberculosis (TNM): Study of 24 Cases Covering Clinical, Paraclinical, Therapeutic and Progressive Aspects","authors":"Marcos Vieira, Yassine Aouni, Youssef Safsafi, Samba Tounkara, A. Reggad, Mohamed Elqatni, Khalid Ennibi","doi":"10.36347/sasjm.2024.v10i02.010","DOIUrl":"https://doi.org/10.36347/sasjm.2024.v10i02.010","url":null,"abstract":"This study aims to analyse the epidemiological, clinical, paraclinical, therapeutic and evolving aspects of neuromeningeal tuberculosis (TNM) through a retrospective study of 21 patients hospitalized between January 2019 and December 2023 in the infectious diseases department of the Rabat military hospital. The average age at diagnosis was 49.5 years, with a predominance in the age group of 20 to 40 years (47.61%). The average time to diagnosis was 25 days. Initial symptoms were generally general signs (100%), followed by headache (61.90%), vomiting (47.61%) and motor deficits (33.33%). All patients underwent lumbar puncture and brain CT scan. Anti-bacillary treatment and corticosteroid therapy were administered to all participants. The outcome was favorable in 61.90% of cases, fatal in 9.52%, and marked by neurological sequelae in 28.57%.","PeriodicalId":193141,"journal":{"name":"SAS Journal of Medicine","volume":"45 8","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140455256","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":"Intravesical Migration of An Intrauterine Device: A Case Report","authors":"M. Benamar, Khalid Ouatar, Mohammed Karam Saoud, M. Ahsaini, S. Mellas, Mohammed Fadl Tazi, J. E. E. Ammari, M. J. Fassi, Moulay Hassan Farih","doi":"10.36347/sjmcr.2024.v12i03.006","DOIUrl":"https://doi.org/10.36347/sjmcr.2024.v12i03.006","url":null,"abstract":"Intravesical migration of an intrauterine device (IUD) is an uncommon complication. We report here a case of IUD migration into the bladder in a 41-year-old patient who had been wearing an IUD for 3 years and who initially consulted us because of urinary burning and pollakiuria associated with episodes of haematuria. The diagnosis of intra-vesical migration was made by ultrasound and confirmed by cystoscopy. Endoscopic extraction of the IUD was performed successfully. Post-operative management was straightforward.","PeriodicalId":193141,"journal":{"name":"SAS Journal of Medicine","volume":"4 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140458948","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":"Prevalence of Cataracts in Adults in Kawiley Village, Kauditan District North Sulawesi","authors":"Sonny Kalangi, Herlina I S Wungouw, Wenny Supit, Irene Rumampuk, Hizkia Rumampuk, Semmy Rumampuk","doi":"10.36347/sasjm.2024.v10i01.016","DOIUrl":"https://doi.org/10.36347/sasjm.2024.v10i01.016","url":null,"abstract":"The sense of sight or eyes is an important part of the human body system so that people can carry out daily life activities optimally. Disturbances in the sense of sight will reduce a person's quality of life. One of the eye disorders is clouding of the eye lens which is called cataract. Cataract is a degenerative disease that is influenced by intrinsic and extrinsic factors. Intrinsic factors include age, gender and genetic factors, while extrinsic factors that influence include education, work and environmental factors in relation to exposure to ultraviolet light. The prevalence of cataracts is quite high in the elderly population and is one of the most common causes of blindness in Indonesia. Cataracts cause the highest rate of blindness at around 81%. A survey in 15 provinces, namely in West Sumatra, North Sumatra, South Sumatra, DKI Jakarta, West Java, Central Java, East Java, South Kalimantan, Bali, NTT, NTB, North Sulawesi, South Sulawesi, Maluku and Papua with a target population over the age of 50 years, it is known that the blindness rate reaches 3 percent. This research aims to determine the prevalence of cataracts in adults in Kawiley village. The research method is to examine the respondents' eyes using opthalmoscope without using midriatic agents. The data currently obtained consists of 21 men and 28 women, with an average age of 66.7 years. Left ocular examination (OS) revealed 21 cataracts and 11 post cataracts with an intra-ocular lens (IOL). In the dextra oculi (OD) there were 20 respondents have cataracts, 11 post cataracts with IOL. Respondents with eyes that did not have cataracts were 17 in OS and 18 in OD, so that the total number of respondents with eyes that had cataracts was 32 (65%) respondents for OS and 31 (64%) respondents for OD. Based on gender, there were 14 (44%) men and 18 (56%) women with cataracts.","PeriodicalId":193141,"journal":{"name":"SAS Journal of Medicine","volume":"53 16","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140480385","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":"Infectious Acute Epiglotite: About 1 case in the Emergency Vital Service CHU- MOHAMED VI Marrakech","authors":"Leonard Bouebazebi Biantona, Zarouf Safae, Moufid Mourad, Rhezali Manel, Hayate Errifaiy, Aboulhassan Taoufik, Nejmi Hicham","doi":"10.36347/sasjm.2024.v10i01.015","DOIUrl":"https://doi.org/10.36347/sasjm.2024.v10i01.015","url":null,"abstract":"Acute infectious epiglottitis in adults is a rare but serious condition. For a long time, this condition was considered an illness of children between 2 and 6 years old. It can be seen in adults but remains misdiagnosed to this day, due to its misleading and polymorphic symptomatology in adults [1]. Inspiratory dyspnea associated with stridor is key signs to guide the diagnosis. Laryngoscopy and nasofibroscopy allow us to confirm the diagnosis [10]. Acute epiglottitis is an infectious and respiratory emergency that can be life-threatening due to obstruction of the upper airways [1]. It requires rapid treatment, which may even involve a tracheal approach. Naso or oro tracheal intubation and/or tracheotomy are emergency means used in severe acute epiglotitis. Antibiotic therapy also remains a therapeutic emergency and must be started early. We will report the observation of 1 case of a 46-year-old patient, admitted for acute inspiratory dyspnea of rapidly progressive onset, admitted to the Emergency vital Service of Chu Mohamed VI Marrakech.","PeriodicalId":193141,"journal":{"name":"SAS Journal of Medicine","volume":"61 38","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140486826","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":"Health Care Waste Assessment in a Secondary Health Care Facility in Anambra State, Nigeria","authors":"Theophilus Nwanyigor Agbo, C. Ezenyeaku, C. Ifeadike, Afamefuna Obumneme Onyeogulu, Chimezie Goodluck Duru, Alexander Arinze Mathias, Timothy Ugochukwu Igwe, Onyeka Chukwuda","doi":"10.36347/sasjm.2024.v10i01.014","DOIUrl":"https://doi.org/10.36347/sasjm.2024.v10i01.014","url":null,"abstract":"Background: Proper management of waste generated in healthcare facilities is very important for patient safety, disease containment, and the general safety of healthcare workers in the facilities. It is important that healthcare workers have a good knowledge of healthcare waste management, develops good attitude towards healthcare waste management and practices standard health care waste management protocols as stipulated by the World Health Organization. Objectives: This study therefore assessed the knowledge, attitude and practice of health care waste management among health care workers in Borromeo Hospital, Anambra State. Methods: A cross sectional descriptive study was carried out among healthcare workers selected using multistage sampling technique in 6 categories of healthcare workers (doctors, nurses, lab scientists/technicians, pharmacists/technicians, hospital attendants) in Borromeo Hospital, Onitsha, using a pre-tested, semi-structured, interviewer-administered questionnaire. Data collected were analyzed using SPSS version 22 and associations and correlations between dependent and independent variables were tested at the bivariate level using Pearson Chi-square test and t-test as appropriate. The level of statistical significance was set at 5%. Results: A total of 73 healthcare workers were studied. Most of the respondents were female nurses with 0-5 years of working experience.58.9% of respondents had a very good knowledge of health care waste management and 37% had a relatively good knowledge. Majority of respondents (85%) agreed that HBV immunization prevents hospital transmission while 79.4% disagreed that containment of sharps does not help in safe management of hospital wastes.89% of the respondents adheres strictly to waste management regulations while only 2.7% of the respondents do not wear gloves in handling medical waste. Most of the respondents (83.6%) agreed that the number of patients in the facility was the single main factor .......","PeriodicalId":193141,"journal":{"name":"SAS Journal of Medicine","volume":"20 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140489280","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":"Dose-Related Aripiprazole-Induced Acneiform Rash: About A Case","authors":"Ezzahhar Ghizlane, El Haid Yousra, El Fellah Sara, Adali Imane, Manoudi Fatiha","doi":"10.36347/sasjm.2024.v10i01.013","DOIUrl":"https://doi.org/10.36347/sasjm.2024.v10i01.013","url":null,"abstract":"Acneiform rash is a commonly reported side effect with certain types of medications, including antipsychotic agents. Its clinical presentation consists mainly of papulopustular lesions. Other types of lesions, such as nodular or cystic, can also be observed [1, 2]. Here we present a case of aripiprazole-induced acneiform eruptions with dose-dependent severity.","PeriodicalId":193141,"journal":{"name":"SAS Journal of Medicine","volume":"9 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140497174","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":"Study of two Cases of Laryngeal Chondrosarcomas: Presentation, Management, And Outcomes","authors":"Z. Benyahia, R. Bencheikh, A. Benbouzid, A. Oujilal, L. Essakalli","doi":"10.36347/sasjm.2024.v10i01.012","DOIUrl":"https://doi.org/10.36347/sasjm.2024.v10i01.012","url":null,"abstract":"Laryngeal chondrosarcomas are rare malignant tumors arising in the cartilage of the larynx, posing diagnostic and therapeutic challenges. This study presents two cases treated at Ibn Sina University Hospital in Rabat, Morocco, emphasizing clinical presentations, diagnostic approaches, treatment strategies, and outcomes. Case 1 involved a 56-year-old chronic smoker presenting with inspiratory dyspnea, leading to total laryngectomy. Histopathology confirmed low-grade chondrosarcoma. Case 2 featured a 67-year-old chronic smoker with dysphonia, leading to total laryngectomy with adjuvant radiotherapy for a moderately differentiated chondrosarcoma. Imaging, endoscopy, and histopathology played crucial roles in diagnosis. The discussion outlines the rarity of laryngeal chondrosarcomas, their typical clinical manifestations, and the importance of imaging and histopathology in confirming the diagnosis. Surgical resection remains the mainstay of treatment, with considerations for partial surgery in specific cases. Radiotherapy is limited, while chemotherapy has no curative role. Prognosis correlates with histological grade and the completeness of surgical resection, with a five-year survival rate ranging from 79% to 90%. Recurrences and metastases are infrequent after complete surgery. In conclusion, a multidisciplinary approach involving oncologists, surgeons, and radiotherapists is crucial for tailored management, ensuring optimal outcomes and quality of life for laryngeal chondrosarcoma patients.","PeriodicalId":193141,"journal":{"name":"SAS Journal of Medicine","volume":"80 9","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140498042","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}