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A Rare Heteroplasmic MT-ND5 Mutation (m.13094T>C) in an Iranian Patient with Adult-Onset MELAS: Diagnostic Challenges and Therapeutic Implications 一个罕见的异质MT-ND5突变（m.13094T&gt；C）在伊朗的成人发病MELAS患者：诊断挑战和治疗意义
Case Reports in Clinical Practice Pub Date : 2025-10-14 DOI: 10.18502/crcp.v10i2.19903
Hamed Amirifard, Mojtaba Shahbazi, Ghasem Farahmand, Maryam Kaeedi, Sanaz Heydari Havadaragh
{"title":"A Rare Heteroplasmic MT-ND5 Mutation (m.13094T>C) in an Iranian Patient with Adult-Onset MELAS: Diagnostic Challenges and Therapeutic Implications","authors":"Hamed Amirifard, Mojtaba Shahbazi, Ghasem Farahmand, Maryam Kaeedi, Sanaz Heydari Havadaragh","doi":"10.18502/crcp.v10i2.19903","DOIUrl":"https://doi.org/10.18502/crcp.v10i2.19903","url":null,"abstract":"Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes [MELAS] is arare multisystem mitochondrial cytopathy that is highly heterogeneous in severity andclinical presentation, mostly caused by diverse mutations in the mitochondrial DNA.While m.3243A>G is the most common variant, rare mutations like m.13094T>C inMT-ND5 are increasingly recognized but poorly characterized.This report documents the case of a 37-year-old Iranian woman diagnosed withMELAS. Her clinical manifestations include recurrent episodes of stroke-like events,focal seizures, and elevated serum and CSF lactate. Mitochondrial DNA analysis[mtDNA] was positive for a very rare pathogenic point mutation [mtDNA; m.3243A>G]in the MT-ND5 gene, with a heteroplasmy level of 8.2%.This case highlights: 1. Adult-onset MELAS with MT-ND5 mutations is underdiagnosed.2.Low heteroplasmy (8.2%) may still cause severe phenotypes, suggesting tissue-specific effects. 3.Ethnic diversity in mtDNA mutations warrants broader geneticscreening in non-classical cases.","PeriodicalId":34254,"journal":{"name":"Case Reports in Clinical Practice","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147901835","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
Spontaneous Extensive Subcutaneous Emphysema, Pneumothorax, Pneumorrhachis, Pneumoperitoneum and Pneumoretroperitoneum in a Young Man with Covid-19 青年人感染Covid-19的自发性广泛皮下肺气肿、气胸、气胸、气腹和腹膜下气肿
Case Reports in Clinical Practice Pub Date : 2025-02-26 DOI: 10.18502/crcp.v9i4.17982
Behgam Fatehi, Morteza Talebi Doluee, Elnaz Vafadar Moradi
{"title":"Spontaneous Extensive Subcutaneous Emphysema, Pneumothorax, Pneumorrhachis, Pneumoperitoneum and Pneumoretroperitoneum in a Young Man with Covid-19","authors":"Behgam Fatehi, Morteza Talebi Doluee, Elnaz Vafadar Moradi","doi":"10.18502/crcp.v9i4.17982","DOIUrl":"https://doi.org/10.18502/crcp.v9i4.17982","url":null,"abstract":"Spontaneous pneumorrhachis and pneumoperitoneum are very rare conditions thatinvolve the presence of air within the spinal canal and peritoneum, respectively, withoutany traumatic or underlying disease. During the Covid-19 pandemic, there have beenreports of spontaneous pneumomediastinum occurring in some patients with severecases of the virus. Herein, we present a case of spontaneous pneumomediastinum,pneumothorax, pneumoperitoneum, pneumoretroperitoneum, pneumorrhachis,and subcutaneous emphysema in a young male without any past medical history ofpulmonary disease and PCR positive for Covid-19. He complained of mild dyspneawith sudden non-painful facial edema. One possible explanation for SPM in Covid-19patients is the severe inflammation and damage to lung tissue caused by the virus.Also, now that the pandemic is over and the disease is not as severe as it was at thebeginning, unknown aspects of the complications of this disease will appear. Thesecomplications are typically self-limiting and follow a benign clinical course.","PeriodicalId":34254,"journal":{"name":"Case Reports in Clinical Practice","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147902341","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
Presentation Invasive Mole After Normal Pregnancy: A Very Rare Case Report 正常妊娠后出现的浸润性痣：非常罕见的病例报告
Case Reports in Clinical Practice Pub Date : 2023-12-31 DOI: 10.18502/crcp.v8i4.14575
A. Tehranian, Akram Ghahghaei-nezamabadi, M. V. Dastjerdi, Sophia Esalatmanesh, Akram Seifollahi
{"title":"Presentation Invasive Mole After Normal Pregnancy: A Very Rare Case Report","authors":"A. Tehranian, Akram Ghahghaei-nezamabadi, M. V. Dastjerdi, Sophia Esalatmanesh, Akram Seifollahi","doi":"10.18502/crcp.v8i4.14575","DOIUrl":"https://doi.org/10.18502/crcp.v8i4.14575","url":null,"abstract":"Gestational trophoblastic neoplasia (GTN) is a rare neoplasm and is a spectrum of proliferative disorders of placenta. Invasive mole is a subtype of GTN that almost always arises after molar pregnancy. This report presents a 35-year-old woman with an atypical presentation of invasive mole after a normal pregnancy. The patient presented with a complaint of vaginal bleeding after normal vaginal delivery. Invasive mole was diagnosed based on findings of imaging and elevated beta human chorionic gonadotropin (ß-hCG) levels. Hysterectomy was finally decided upon due to severe vaginal bleeding and the patient’s request. Although GTN occurs after normal delivery, the patient recovered without receiving chemotherapy. It is important to consider all subtypes of GTN as a differential diagnosis of patients with abnormal postpartum bleeding and elevated ß-hCG levels even after a normal pregnancy.","PeriodicalId":34254,"journal":{"name":"Case Reports in Clinical Practice","volume":" 419","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139136780","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}
引用次数: 0
A Colorectal Adenocarcinoma With Obstruction in a 26-Year-Old Man: A Case Report in an Unlikely Age Group 一名 26 岁男子的结直肠腺癌伴梗阻：一个不寻常年龄组的病例报告
Case Reports in Clinical Practice Pub Date : 2023-12-31 DOI: 10.18502/crcp.v8i4.14576
Faraz Mahdizadeh, Mir Mehdi Chinifroush-Asl, Farzad Heidary
{"title":"A Colorectal Adenocarcinoma With Obstruction in a 26-Year-Old Man: A Case Report in an Unlikely Age Group","authors":"Faraz Mahdizadeh, Mir Mehdi Chinifroush-Asl, Farzad Heidary","doi":"10.18502/crcp.v8i4.14576","DOIUrl":"https://doi.org/10.18502/crcp.v8i4.14576","url":null,"abstract":"Colorectal cancer affects the rectum or large bowel, including the appendix. This type of cancer develops from the colorectal mucosa, with adenocarcinoma being the most common form, accounting for over 95% of cases. It typically affects individuals aged 50 years or older. However, this report highlights a case of colorectal adenocarcinoma that occurred at a young age, despite no family history. Unfortunately, the cancer was initially missed during check-ups because of the unlikely age group, resulting in a delayed diagnosis. The patient, who presented with an obstruction, underwent surgical interventions. Upon further examination, the histopathological tests revealed that the patient had well-differentiated type I colorectal adenocarcinoma.","PeriodicalId":34254,"journal":{"name":"Case Reports in Clinical Practice","volume":"122 21","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139135053","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}
引用次数: 0
Adult Presentation of Meckel’s Diverticulum: A Case Report 梅克尔憩室的成人表现：病例报告
Case Reports in Clinical Practice Pub Date : 2023-12-31 DOI: 10.18502/crcp.v8i4.14574
Queeneth Uwandu, Ogheneyoma Akpoviroro
{"title":"Adult Presentation of Meckel’s Diverticulum: A Case Report","authors":"Queeneth Uwandu, Ogheneyoma Akpoviroro","doi":"10.18502/crcp.v8i4.14574","DOIUrl":"https://doi.org/10.18502/crcp.v8i4.14574","url":null,"abstract":"Meckel’s diverticulum (MD) is a congenital outpouching or bulge in the lower part of the small intestine. It is the most common congenital defect of the gastrointestinal tract. MD is usually asymptomatic but when symptomatic, typically presents in childhood. A case is presented of a 33-year-old Caucasian man who presented with multiple episodes of bright red blood per rectum prior to hospital admission, with associated weakness and nausea. The patient denied abdominal discomfort, fevers, or vomiting. Eventually, it was found that the patient had a Meckel’s diverticulum with an associated focus of active extravasation from a dilated mesenteric vein. The feeding artery was successfully embolized with cessation of flow to the draining vein. Colonoscopy and computed tomography (CT) scan were inconclusive, and the patient ultimately underwent diagnostic laparoscopy and small bowel resection of the Meckel’s diverticulum to prevent further bleeding by removing aberrant tissue","PeriodicalId":34254,"journal":{"name":"Case Reports in Clinical Practice","volume":"76 16","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139132041","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}
引用次数: 0
Rapunzel Syndrome in A 13-Year-Old Girl with Abdominal Pain Presenting to The Pediatric Emergency Department: A Case Report 一名 13 岁女孩因腹痛到儿科急诊就诊时患上了长发公主综合征：病例报告
Case Reports in Clinical Practice Pub Date : 2023-12-31 DOI: 10.18502/crcp.v8i4.14578
Majid Aflatoonian, Rohoollah Edalatkhah, Hojatollah Raji, Amir Pasha Amel Shahbaz
{"title":"Rapunzel Syndrome in A 13-Year-Old Girl with Abdominal Pain Presenting to The Pediatric Emergency Department: A Case Report","authors":"Majid Aflatoonian, Rohoollah Edalatkhah, Hojatollah Raji, Amir Pasha Amel Shahbaz","doi":"10.18502/crcp.v8i4.14578","DOIUrl":"https://doi.org/10.18502/crcp.v8i4.14578","url":null,"abstract":"Trichobezoar is a rare form of bezoar characterized by the accumulation of swallowed hair in the stomach. An unusual form of bezoar, in which the bezoar spreads from the stomach to the small intestine or beyond, is called Rapunzel syndrome. This syndrome is mainly seen in females and is often associated with psychiatric disorders. Trichobezoar usually presents with abdominal pain, early satiety, and nausea. However, it may also present as an asymptomatic abdominal mass or obstruction and pe rforation of the gastrointestinal tract. This diagnosis should be considered in young women with abdominal pain, an epigastric mass, and malnutrition, especially in patients with a history of trichophagy or psychiatric disorder. The case of a 13-year-old girl with Rapunzel syndrome is described. She presented to the emergency ward with a history of abdominal pain, non-bilious vomiting after meal and fluid intake, halitosis, decreased appetite, and weight loss. The patient was treated successfully by laparotomy.","PeriodicalId":34254,"journal":{"name":"Case Reports in Clinical Practice","volume":" December","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139136975","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}
引用次数: 0
Adhesion Band Small Bowel Obstruction in Virgin Abdomen: A Case Report 处女腹部粘连带状小肠梗阻：病例报告
Case Reports in Clinical Practice Pub Date : 2023-12-31 DOI: 10.18502/crcp.v8i4.14577
Hadi Fardis
{"title":"Adhesion Band Small Bowel Obstruction in Virgin Abdomen: A Case Report","authors":"Hadi Fardis","doi":"10.18502/crcp.v8i4.14577","DOIUrl":"https://doi.org/10.18502/crcp.v8i4.14577","url":null,"abstract":"Small bowel obstruction (SBO) is a common surgical emergency, accounting for almost 50% of all emergency laparotomies with significant in-hospital morbidity. History of previous intra-abdominal surgery is very common in SBO patients, which can include up to 80% of these patients. However, there are cases of SBO with no prior abdominal surgery caused by omental bands, which are very rare and have a high probability of misdiagnosis, referred to as a virgin abdomen. In this article, a rare case of adhesion band small bowel obstruction in a virgin abdomen is presented. Although the factors related to SBO in a virgin abdomen and its underlying causes are not yet fully understood. In this case, the most possible explanation is considering the patient’s age and congenital condition because of the absence of previous abdominal surgeries or inflammation history.","PeriodicalId":34254,"journal":{"name":"Case Reports in Clinical Practice","volume":"106 24","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139133602","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}
引用次数: 0
Occult Pheochromocytoma and Acute Ischaemic Stroke in Young Adult: Cause or Association 青少年隐匿性嗜铬细胞瘤与急性缺血性中风：原因或关联
Case Reports in Clinical Practice Pub Date : 2023-12-31 DOI: 10.18502/crcp.v8i4.14580
Zeba Siddiqi, Mateen Saboor, Shivesh Singhi, Haneen Shah
{"title":"Occult Pheochromocytoma and Acute Ischaemic Stroke in Young Adult: Cause or Association","authors":"Zeba Siddiqi, Mateen Saboor, Shivesh Singhi, Haneen Shah","doi":"10.18502/crcp.v8i4.14580","DOIUrl":"https://doi.org/10.18502/crcp.v8i4.14580","url":null,"abstract":"Pheochromocytoma is a rare catecholamine-secreting tumours of chromaffin tissues that cause a constellation of symptoms. It is closely associated with endocrine hypertension that can be masked, sustained or paroxysmal leading to hypertensive crisis, resulting in vascular and non-vascular complications and rarely cerebral ischaemia and stroke. A healthy 22 year old male reported with acute Right upper limb(RUL) monoplegia and Motor aphasia for five days with raised blood pressure levels. hypertonia was present, deep tendon reflexes were exaggerated in RUL and Right Plantar was extensor. General and systemic findings were nonsignificant . Routine investigations showed thrombocytosis and M.R.I. Brain was suggestive of acute infarction of Left Parieto-Temporal region. Renal doppler, Carotid Intima Media Thickness, Cerebral Angiogram, 2D-E.C.H.O. and Fundoscopy were normal. AntinuclearAntibody was negative. Contrast CT of abdomen revealed right adrenal mass suggestive of isolated Pheochromocytoma. Vanyl-Mandelic Acid was positive. Patient was stabilised and managed conservatively for 4 weeks followed by adrenalectomy and appropriate medical therapy. Patient is on regular followup and does not seem to require any antihypertensives or any other intervention. Pheochromocytoma is a notorious tumor and a great masquerader specially in young adults. A keen eye, routine checkups and evaluation is the key to detecting and preventing its associated morbidity and mortality.","PeriodicalId":34254,"journal":{"name":"Case Reports in Clinical Practice","volume":" 899","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139136542","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}
引用次数: 0
Anterior Wall of Maxillary Sinus as a New Autogenic Graft Source: A Case Report 上颌窦前壁作为一种新的自体移植来源：病例报告
Case Reports in Clinical Practice Pub Date : 2023-12-28 DOI: 10.18502/crcp.v8i4.14569
Arash Tahmasebi, Seyed Hadi Hoseini, Donya Maleki
{"title":"Anterior Wall of Maxillary Sinus as a New Autogenic Graft Source: A Case Report","authors":"Arash Tahmasebi, Seyed Hadi Hoseini, Donya Maleki","doi":"10.18502/crcp.v8i4.14569","DOIUrl":"https://doi.org/10.18502/crcp.v8i4.14569","url":null,"abstract":"This study introduces the anterior wall of the maxillary sinus as a viable and accessible graft site for small to moderate bone defects in the maxilla that pose challenges for implantation. A healthy 40-year-old woman was referred by a prosthodontist due to malpositioned implants. Following a comprehensive assessment, the decision was made to remove the implants. Upon executing this treatment plan, a medium-sized defect was revealed. The flap was elevated to expose the anterior wall of the maxillary antrum, from which an osseous graft was obtained. This graft was then fixed as a buccal wall of the defect and supported by a membrane. After a healing period of 6 months, two implants were successfully inserted. The anterior wall of the maxillary sinus can serve as a beneficial graft source. However, more extensive studies with appropriate design are required to reach a definitive conclusion.","PeriodicalId":34254,"journal":{"name":"Case Reports in Clinical Practice","volume":"2 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139151666","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}
引用次数: 0
Better Inset in Nipple Reconstruction by Modification in Skate Flap: A Case Study 通过修改鳐鱼皮瓣实现更好的乳头内陷重建：病例研究
Case Reports in Clinical Practice Pub Date : 2023-12-28 DOI: 10.18502/crcp.v8i4.14570
J. Rahmati, Shahriar Haddady-Abianeh, Hosseinali Abdolrazagh, Iraj Pourahmadian, H. Molaei
{"title":"Better Inset in Nipple Reconstruction by Modification in Skate Flap: A Case Study","authors":"J. Rahmati, Shahriar Haddady-Abianeh, Hosseinali Abdolrazagh, Iraj Pourahmadian, H. Molaei","doi":"10.18502/crcp.v8i4.14570","DOIUrl":"https://doi.org/10.18502/crcp.v8i4.14570","url":null,"abstract":"NAC reconstruction represents the final stage of breast reconstruction. This can be accomplished thr ough non-surgical and surgical procedures, each with its own set of advantages and disadvantages. The majority of surgeons employ the Skate flap. The following is a de monstration of a modific ation to this flap. A woman, 56 years of age, who had previously undergone breast reconstruction using a TRAM flap, was admitted for nipple reconstruction. During the design of the star flap, a modification was executed, which involved reciprocally changing the orientation of the lateral flaps. Both flaps were properly positioned in their prepared locations during the flap inset and skin closure. The final outcome was satisfactory and aesthetically pleasing. The modification in the design of the Skate flap alters the orientation of the transferred flaps, making the final inse t feasible with less dis figurement.","PeriodicalId":34254,"journal":{"name":"Case Reports in Clinical Practice","volume":"6 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139148674","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}
引用次数: 0
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