Case Reports in Medicine最新文献

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Report of a Complicated Case of Couvelaire Uterus. 复杂子宫库夫莱尔症1例报告。
IF 0.8
Case Reports in Medicine Pub Date : 2023-01-01 DOI: 10.1155/2023/6668328
Hamideh Parsapour, Neda Shafie, Amir Mohammad Salehi, Zeinab Assareh
{"title":"Report of a Complicated Case of Couvelaire Uterus.","authors":"Hamideh Parsapour,&nbsp;Neda Shafie,&nbsp;Amir Mohammad Salehi,&nbsp;Zeinab Assareh","doi":"10.1155/2023/6668328","DOIUrl":"https://doi.org/10.1155/2023/6668328","url":null,"abstract":"<p><p>Couvelaire uterus (CU) is a rare complication in the life-threatening placental abruption (PA) that consists of a state of blood infiltration of the uterine myometrium and serosa. The incidence is around 1% and the treatment of choice is obstetric hysterectomy, however, in some cases, close monitoring and timely decision-making can prevent hysterectomy. Herein, we present a rare and serious case of CU with uterus preservation in a young multiparous with a high-risk pregnancy.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10319456/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9807290","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Successful Treatment of Respiratory Failure in a Patient with Prader-Willi Syndrome with Noninvasive Ventilation with AVAPS. AVAPS无创通气成功治疗Prader-Willi综合征患者呼吸衰竭。
IF 0.8
Case Reports in Medicine Pub Date : 2023-01-01 DOI: 10.1155/2023/9925144
Nauras Hwig, Montserrat Diaz-Abad, Victor T Peng, Jennifer Y So, Anayansi Lasso-Pirot
{"title":"Successful Treatment of Respiratory Failure in a Patient with Prader-Willi Syndrome with Noninvasive Ventilation with AVAPS.","authors":"Nauras Hwig,&nbsp;Montserrat Diaz-Abad,&nbsp;Victor T Peng,&nbsp;Jennifer Y So,&nbsp;Anayansi Lasso-Pirot","doi":"10.1155/2023/9925144","DOIUrl":"https://doi.org/10.1155/2023/9925144","url":null,"abstract":"<p><p>Prader-Willi syndrome (PWS) is the most prevalent syndromic form of obesity, which starts during early childhood in the setting of hyperphagia. Due to the development of obesity, there is a high prevalence of obstructive sleep apnea (OSA) among these patients. This case report presents a patient with PWS with morbid obesity, severe OSA, and obesity hypoventilation syndrome admitted to the hospital for hypoxemic and hypercapnic respiratory failure. Noninvasive ventilation (NIV) with average volume-assured pressure support, a newer NIV modality, was used successfully to treat this patient, achieving major clinical and gas exchange improvement both during the hospitalization and long term after discharge.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10129413/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9363392","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Epidural Blood Patch in a Patient with a Hematological Malignancy. 恶性血液病患者的硬膜外补血。
IF 0.8
Case Reports in Medicine Pub Date : 2023-01-01 DOI: 10.1155/2023/9955772
Ross Barman, Jack McHugh, Thomas O'Mara, Thomas Pittelkow, Ryan S D'Souza
{"title":"Epidural Blood Patch in a Patient with a Hematological Malignancy.","authors":"Ross Barman,&nbsp;Jack McHugh,&nbsp;Thomas O'Mara,&nbsp;Thomas Pittelkow,&nbsp;Ryan S D'Souza","doi":"10.1155/2023/9955772","DOIUrl":"https://doi.org/10.1155/2023/9955772","url":null,"abstract":"<p><p>Postdural puncture headache is a frequently encountered complication following procedures such as lumbar puncture, neuraxial anesthesia, or intrathecal drug delivery device implantation. It classically presents as a painful orthostatic headache that is exacerbated when a patient is upright. For treatment, patients are often started on conservative options such as hydration, caffeine, bedrest, and NSAID analgesics; however, certain patients who fail these therapies may require intervention with an epidural blood patch. The epidural blood patch remains the gold standard for treating refractory postdural puncture headache. Contraindications to epidural blood patch include severe coagulopathy, patient refusal, or infection at the intended site of entry. There are no clear consensus recommendations regarding patients with a hematological malignancy and potential risk that autologous blood may seed malignant cells into the neuraxis. In this case report, we present a patient with acute myeloid leukemia who developed a postdural puncture headache after receiving subarachnoid administration of antineoplastics. The patient was refractory to conservative therapy, prompting multidisciplinary consultation and discussion with the patient about the risks and benefits of proceeding with an epidural blood patch. Ultimately, the patient elected to proceed with the offered epidural blood patch which led to complete resolution of his painful headaches and did not cause any spread of malignant cells into his neuraxis or cerebral spinal fluid.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9937747/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10772739","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
"Extreme Nephroptosis": A Kidney in the Inguinal Hernia. “极度肾下垂”:腹股沟疝中的一个肾。
IF 0.8
Case Reports in Medicine Pub Date : 2023-01-01 DOI: 10.1155/2023/1439919
Dmytro Shchukin, Vladyslav Demchenko, Andrii Arkatov, Roman Stetsyshyn, Gennadii Khareba, Vladyslav Bielov
{"title":"\"Extreme Nephroptosis\": A Kidney in the Inguinal Hernia.","authors":"Dmytro Shchukin,&nbsp;Vladyslav Demchenko,&nbsp;Andrii Arkatov,&nbsp;Roman Stetsyshyn,&nbsp;Gennadii Khareba,&nbsp;Vladyslav Bielov","doi":"10.1155/2023/1439919","DOIUrl":"https://doi.org/10.1155/2023/1439919","url":null,"abstract":"<p><p>We present an extremely rare case of renal ptosis from the normal orthotopic position into the cavity of inguinal hernia in a 93-year-old male patient. The following clinical case was accompanied by renal insufficiency, which was associated with the obstruction of the right ureter in the hernial sac and the stenosis of the left renal artery. The differential diagnosis between nephroptosis and dystopic kidney was based on MDCT scan images, which demonstrated the length of the right renal artery to be more than 20 cm. The patient underwent percutaneous nephrostomy through the right inguinal area and was successfully followed up for two years. We also analyzed six similar clinical cases described in the literature. This disease has, thus far, been observed exclusively in elderly men with long-standing and large inguinal hernias. The most frequent complications in these patients include ureteral strangulation in the area of the hernial gate and renal failure.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10435303/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10050597","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Atypical Presentation of Amyloidosis in a Female Patient with Muscle Weakness. 女性肌无力患者淀粉样变性的不典型表现。
IF 0.8
Case Reports in Medicine Pub Date : 2023-01-01 DOI: 10.1155/2023/1553163
Raziyeh Lashkari, Maryam Loghman, Leila Aghaghazvini, Hiva Saffar, Bentolhoda Ziaadini, Reza Shahriarirad, Mohammad Nekooeian, Mohammad Nejadhosseinian, Majid Alikhani
{"title":"Atypical Presentation of Amyloidosis in a Female Patient with Muscle Weakness.","authors":"Raziyeh Lashkari,&nbsp;Maryam Loghman,&nbsp;Leila Aghaghazvini,&nbsp;Hiva Saffar,&nbsp;Bentolhoda Ziaadini,&nbsp;Reza Shahriarirad,&nbsp;Mohammad Nekooeian,&nbsp;Mohammad Nejadhosseinian,&nbsp;Majid Alikhani","doi":"10.1155/2023/1553163","DOIUrl":"https://doi.org/10.1155/2023/1553163","url":null,"abstract":"<p><p>Muscle involvement represents a well-recognized but rare manifestation of amyloidosis. Here, we report a 40-year-old female who presented with muscle weakness, musculoskeletal pain, and proteinuria, which was eventually diagnosed as myopathic amyloidosis based on muscle biopsy results. A multidisciplinary approach appears to be the cornerstone of the diagnostic work up for recognizing the unusual amyloid myopathy.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10118899/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9756687","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Acute Abdominal Pain as a Result of an Isolated Left Ovarian Vein Thrombosis. 孤立性左卵巢静脉血栓形成引起急性腹痛。
IF 0.8
Case Reports in Medicine Pub Date : 2023-01-01 DOI: 10.1155/2023/9528088
Abhay Setia, Farzin Adili, Karl Ludwig, Joerg Herold
{"title":"Acute Abdominal Pain as a Result of an Isolated Left Ovarian Vein Thrombosis.","authors":"Abhay Setia,&nbsp;Farzin Adili,&nbsp;Karl Ludwig,&nbsp;Joerg Herold","doi":"10.1155/2023/9528088","DOIUrl":"https://doi.org/10.1155/2023/9528088","url":null,"abstract":"<p><p>Ovarian vein thrombosis (OVT) is a rare thromboembolic condition. It involves the right ovarian vein in 70-80% of cases. The risk factors for the development of OVT are pregnancy or puerperium, hormone therapy with estrogen, recent surgery or hospitalization, malignancy, pelvic inflammatory diseases, thrombophilia and idiopathic OVT. We present a rare case of left OVT in a young, non-pregnant woman in her 30 s. A high degree of suspicion is necessitated in patients with the triad of young-middle-aged female, pain abdomen in lower quadrant and hematuria to diagnose OVT. Contrast enhanced computer tomography (CT-venography) is the diagnostic modality of choice. The patient was initially treated with low molecular weight heparin and then switched to direct oral anticoagulants. At 6-monthsfollow-up the patient was free from any symptoms.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10148740/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9768459","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pathological Correlation of a Cardiac Mass with Multimodality Imaging. 心脏肿块与多模态影像的病理相关性。
IF 0.8
Case Reports in Medicine Pub Date : 2023-01-01 DOI: 10.1155/2023/7352934
Sumit Sohal, Farida A Tanko, Esad Vucic, Sergio Waxman, Suresh Gupta, Billie Fyfe-Kirschner
{"title":"Pathological Correlation of a Cardiac Mass with Multimodality Imaging.","authors":"Sumit Sohal,&nbsp;Farida A Tanko,&nbsp;Esad Vucic,&nbsp;Sergio Waxman,&nbsp;Suresh Gupta,&nbsp;Billie Fyfe-Kirschner","doi":"10.1155/2023/7352934","DOIUrl":"https://doi.org/10.1155/2023/7352934","url":null,"abstract":"<p><p>Cardiac masses are rarely encountered in clinical practice and can lead to severe hemodynamic consequences. In addition to clinical cues, noninvasive modalities can play an important role in characterization of these masses and therefore their diagnosis and management planning. Here in this case report, we describe the use of various forms of noninvasive imaging techniques to narrow the differential diagnosis and form an operative plan for a cardiac mass later identified as a benign myxoma originating from the right ventricle on histological examination.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10129422/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9363393","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Managing Follicular Lymphoma in the Elderly Population. 老年人群滤泡性淋巴瘤的管理。
IF 0.8
Case Reports in Medicine Pub Date : 2023-01-01 DOI: 10.1155/2023/1038934
Jiao Jie Cherie Tan, Yuen Lei Sze, Clarice Choong Shi Hui
{"title":"Managing Follicular Lymphoma in the Elderly Population.","authors":"Jiao Jie Cherie Tan,&nbsp;Yuen Lei Sze,&nbsp;Clarice Choong Shi Hui","doi":"10.1155/2023/1038934","DOIUrl":"https://doi.org/10.1155/2023/1038934","url":null,"abstract":"<p><p>Follicular lymphoma (FL) is one of the most commonly diagnosed types of indolent non-Hodgkin lymphoma (NHL). The median age of diagnosis for FL is 65 years old. Although the median life expectancy after diagnosis is approximately 10 years, the incurable disease has a high risk of transformation. This case report focuses on an 80-year-old patient diagnosed with low-grade follicular lymphoma which subsequently transformed leading to the patient's eventual demise as the patient took on the palliative intent. This case report aims to highlight the importance of clinical markers or prognostic factors to identify patients, specifically the elderly population who are at risk of transformation to aggressive forms when their FL remains at stage I-II phases. Currently, elderly patients with FL tend to be quickly dismissed with curative intent with chemotherapy, given their age and comorbidities, despite forming the majority of the population with follicular lymphoma. Age more than 60 years old has been shown to be one of the most powerful yet poor prognostic features in follicular lymphoma international prognostic index (FLIPI)-the main scoring system used for FL. Hence, further studies are required to look into the tailoring treatment for elderly patients with follicular lymphoma after risk stratifying them with appropriate clinical and prognostic markers.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9836818/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9099345","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Association of CYP2C9∗3 and CYP2C8∗3 Non-Functional Alleles with Ibuprofen-Induced Upper Gastrointestinal Toxicity in a Saudi Patient. CYP2C9∗3和CYP2C8∗3非功能等位基因与布洛芬诱导的沙特患者上胃肠道毒性的关系。
IF 0.8
Case Reports in Medicine Pub Date : 2023-01-01 DOI: 10.1155/2023/6623269
Amina M Bagher
{"title":"Association of <i>CYP2C9∗3</i> and <i>CYP2C8∗3</i> Non-Functional Alleles with Ibuprofen-Induced Upper Gastrointestinal Toxicity in a Saudi Patient.","authors":"Amina M Bagher","doi":"10.1155/2023/6623269","DOIUrl":"https://doi.org/10.1155/2023/6623269","url":null,"abstract":"<p><p>Ibuprofen is a non-steroidal anti-inflammatory drug (NSAID) widely used to alleviate pain and inflammation. Although it is generally considered safe, common adverse drug reactions of ibuprofen include stomach pain, nausea, and heartburn. It can also cause gastrointestinal (GI) bleeding, especially in individuals with a history of GI ulcers or bleeding disorders. Ibuprofen is predominantly metabolized by the cytochrome P450 (CYP) enzymes CYP2C9 and CYP2C8. Individuals carrying the <i>CYP2C9</i>∗<i>3</i> or <i>CYP2C8</i>∗<i>3</i> non-functional alleles have reduced enzyme activities resulting in elevated ibuprofen plasma concentrations and half-life. We presented a case of a 31-year-old Saudi female patient with a history of rheumatoid arthritis (RA) who had taken ibuprofen at 600 mg twice daily for eight weeks. The patient presented to the emergency department with symptoms including nausea, vomiting, severe abdominal pain, and black tarry stools. An emergency esophagogastroduodenoscopy was performed on the patient, which revealed a deep bleeding ulcer measuring 1 × 1 cm in the antrum of the stomach. Laboratory investigations indicated anemia (hemoglobin: 7.21 g/dL and hematocrit: 22.40 g/dl). The patient received intravenous proton pump inhibitors and a packed red blood cell transfusion. Genetic analysis revealed that the patient was a carrier of <i>CYP2C9</i>∗<i>3 and CYP2C8</i>∗<i>3</i> variant alleles, indicating that the patient is a poor metabolizer for both enzymes. The patient's symptoms improved over the subsequent days, and she was discharged with instructions to avoid NSAIDs. This is the first reported Saudi patient homozygous for <i>CYP2C9</i>∗<i>3 and CYP2C8</i>∗<i>3</i> variant alleles, which led to ibuprofen-induced upper GI toxicity. This case demonstrates the importance of contemplating <i>CYP2C9</i> and CYP2C8 genetic variations when administrating NSAIDs like ibuprofen. Careful assessment of the risks and benefits of NSAID therapy in each patient and consideration of alternative pain management strategies must be conducted when appropriate.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10382241/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9906732","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
DNAH11 and a Novel Genetic Variant Associated with Situs Inversus: A Case Report and Review of the Literature. DNAH11和一种与位置反向相关的新遗传变异:一个病例报告和文献综述。
IF 0.8
Case Reports in Medicine Pub Date : 2023-01-01 DOI: 10.1155/2023/8436715
Fatemeh Sodeifian, Noosha Samieefar, Sepideh Shahkarami, Elham Rayzan, Simin Seyedpour, Meino Rohlfs, Christoph Klein, Delara Babaie, Nima Rezaei
{"title":"<i>DNAH11</i> and a Novel Genetic Variant Associated with Situs Inversus: A Case Report and Review of the Literature.","authors":"Fatemeh Sodeifian,&nbsp;Noosha Samieefar,&nbsp;Sepideh Shahkarami,&nbsp;Elham Rayzan,&nbsp;Simin Seyedpour,&nbsp;Meino Rohlfs,&nbsp;Christoph Klein,&nbsp;Delara Babaie,&nbsp;Nima Rezaei","doi":"10.1155/2023/8436715","DOIUrl":"https://doi.org/10.1155/2023/8436715","url":null,"abstract":"<p><strong>Background: </strong>Primary ciliary dyskinesia (PCD), also known as the immotile-cilia syndrome, is a clinically and genetically heterogeneous syndrome. Improper function of the cilia causes impaired mucociliary clearance. Neonatal respiratory distress, rhinosinusitis, recurrent chest infections, wet cough, and otitis media are respiratory presentations of this disease. It could also manifest as infertility in males as well as laterality defects in both sexes, such as situs abnormalities (Kartagener syndrome). During the past decade, numerous pathogenic variants in 40 genes have been identified as the causatives of primary ciliary dyskinesia. <i>DNAH11</i> (dynein axonemal heavy chain 11) is a gene that is responsible for the production of cilia's protein and encodes the outer dynein arm. Dynein heavy chains are motor proteins of the outer dynein arms and play an essential role in ciliary motility. <i>Case Presentation</i>. A 3-year-old boy, the offspring of consanguineous parents, was referred to the pediatric clinical immunology outpatient department with a history of recurrent respiratory tract infections and periodic fever. Furthermore, on medical examination, situs inversus was recognized. His lab results revealed elevated levels of erythrocyte sedimentation rate (ESR) and C reactive protein (CRP). Serum IgG, IgM, and IgA levels were normal, while IgE levels were elevated. Whole exome sequencing (WES) was performed for the patient. WES demonstrated a novel homozygous nonsense variant in <i>DNAH11</i> (c.5247G > A; p. Trp1749Ter).</p><p><strong>Conclusion: </strong>We reported a novel homozygous nonsense variant in <i>DNAH11</i> in a 3-year-old boy with primary ciliary dyskinesia. Biallelic pathogenic variants in one of the many coding genes involved in the process of ciliogenesis lead to PCD.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":null,"pages":null},"PeriodicalIF":0.8,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10154638/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9486195","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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