Pub Date : 2024-05-07DOI: 10.29328/journal.jcmei.1001031
Irshaid Fawzi, Alawneh Salim, Al Souhail Qasim, Alshdefat Aisha, Irshaid Bashar, Irshaid Ahmed
Objective: Alazami syndrome (AS) is an infrequent genetic disorder inherited in an autosomal recessive pattern, characterized by the presence of multiple congenital abnormalities. This study explores a case of a 4-year-old girl with AS, examining symptoms, genetic factors, and treatment efficacy. Case report: A 4-year-old girl, born to consanguineous Jordanian parents, displayed dysmorphic features including low birth weight, microcephaly, hyperthyroidism, short stature, blue sclera, triangular-shaped face, deep-set eyes, narrow palpebral fissures, and a prominent forehead. Examination revealed height (92 cm) and weight (7.7 kg) below the 5th and 3rd percentiles respectively. Blood tests and renal ultrasound were normal. Whole exome sequencing (WES) identified a homozygous eight-base pair deletion within exon 5 of the LARP7 gene on chromosome 4q25, confirming the diagnosis of AS, an autosomal recessive disorder. This variant induces frameshift mutations leading to premature stop codons, suggesting a probable mechanism of illness via loss of function. Treatment involving growth monitoring and therapy led to significant improvements in height, weight, and communication skills within three months. Conclusion: We describe a rare autosomal recessive AS case due to consanguinity, with a frameshift mutation in the LARP7 gene found via WES. Our AS treatment program effectively alleviates symptoms and enhances developmental progress.
{"title":"A Rare Consanguineous Case of Alazami Syndrome in a Jordanian Family: Clinical Presentation, Genetic Analysis, and Therapeutic Approaches - A Case Report","authors":"Irshaid Fawzi, Alawneh Salim, Al Souhail Qasim, Alshdefat Aisha, Irshaid Bashar, Irshaid Ahmed","doi":"10.29328/journal.jcmei.1001031","DOIUrl":"https://doi.org/10.29328/journal.jcmei.1001031","url":null,"abstract":"Objective: Alazami syndrome (AS) is an infrequent genetic disorder inherited in an autosomal recessive pattern, characterized by the presence of multiple congenital abnormalities. This study explores a case of a 4-year-old girl with AS, examining symptoms, genetic factors, and treatment efficacy. Case report: A 4-year-old girl, born to consanguineous Jordanian parents, displayed dysmorphic features including low birth weight, microcephaly, hyperthyroidism, short stature, blue sclera, triangular-shaped face, deep-set eyes, narrow palpebral fissures, and a prominent forehead. Examination revealed height (92 cm) and weight (7.7 kg) below the 5th and 3rd percentiles respectively. Blood tests and renal ultrasound were normal. Whole exome sequencing (WES) identified a homozygous eight-base pair deletion within exon 5 of the LARP7 gene on chromosome 4q25, confirming the diagnosis of AS, an autosomal recessive disorder. This variant induces frameshift mutations leading to premature stop codons, suggesting a probable mechanism of illness via loss of function. Treatment involving growth monitoring and therapy led to significant improvements in height, weight, and communication skills within three months. Conclusion: We describe a rare autosomal recessive AS case due to consanguinity, with a frameshift mutation in the LARP7 gene found via WES. Our AS treatment program effectively alleviates symptoms and enhances developmental progress.","PeriodicalId":476162,"journal":{"name":"Journal of clinical, medical and experimental images","volume":"81 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141003158","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}
Pub Date : 2023-09-04DOI: 10.29328/journal.jcmei.1001028
Chang Han-Mei, Su Chan-I, Chang Ching-Ting
The vast majority of urological complications occur at the ureterovesical junction and usually occur early after transplantation. The aim of this study is to enhance the quality of medical care provided to patients who undergo kidney transplantation. Cystography was conducted on renal transplant recipients utilizing computed tomography. The utilization of changes in the patient’s position and reconstructed images of the bladder can serve as a diagnostic tool to assess the normal functioning of the urinary tract system subsequent to kidney transplantation. To ensure adequate filling of the bladder and ureter, it is necessary to introduce varying amounts of contrast medium through the urinary catheter into these structures. This diagnostic procedure aims to verify the existence of stenosis or leakage occurring at the vesicoureteral junction. The evaluation and diagnosis of urinary tract problems subsequent to kidney transplantation can be effectively conducted. Furthermore, it has the potential to mitigate the adverse effects and alleviate the strain on the renal system resulting from the administration of contrast agents in computed tomography urography. CT-guided cystography can enhance the medical quality and comfort of Kidney transplantation patients.
{"title":"CT-guided Retrograde Urography as a Diagnostic Tool for Post-kidney Transplantation Evaluation: A Case Report","authors":"Chang Han-Mei, Su Chan-I, Chang Ching-Ting","doi":"10.29328/journal.jcmei.1001028","DOIUrl":"https://doi.org/10.29328/journal.jcmei.1001028","url":null,"abstract":"The vast majority of urological complications occur at the ureterovesical junction and usually occur early after transplantation. The aim of this study is to enhance the quality of medical care provided to patients who undergo kidney transplantation. Cystography was conducted on renal transplant recipients utilizing computed tomography. The utilization of changes in the patient’s position and reconstructed images of the bladder can serve as a diagnostic tool to assess the normal functioning of the urinary tract system subsequent to kidney transplantation. To ensure adequate filling of the bladder and ureter, it is necessary to introduce varying amounts of contrast medium through the urinary catheter into these structures. This diagnostic procedure aims to verify the existence of stenosis or leakage occurring at the vesicoureteral junction. The evaluation and diagnosis of urinary tract problems subsequent to kidney transplantation can be effectively conducted. Furthermore, it has the potential to mitigate the adverse effects and alleviate the strain on the renal system resulting from the administration of contrast agents in computed tomography urography. CT-guided cystography can enhance the medical quality and comfort of Kidney transplantation patients.","PeriodicalId":476162,"journal":{"name":"Journal of clinical, medical and experimental images","volume":"22 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135453591","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}
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