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Unilateral Periorbital Swelling in a Pediatric Patient. 一名儿科患者的单侧眶周肿胀
IF 1 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-05-31 eCollection Date: 2024-01-01 DOI: 10.1177/11795476241255563
Ana Rosas Herrera, Ashley B Parker, Mark Chaskes, Frederic Askin, Aurelia S Monk, John R Stephens, Brian D Thorp, Charles S Ebert, Brent A Senior, Adam J Kimple, Keonho A Kong

Infratemporal fossa (ITF) tumors are rare in children and may present with a variety of symptoms. Teratomas are neoplasms derived from the 3 germ layers and approximately 6% to 10% are within the head and neck. Our study discusses one of the first reported cases of teratoma in the ITF in a pediatric patient. A 3-year-old girl presents with 2 years of recurrent monthly left periorbital swelling accompanied by fevers, skin discoloration, and pain. Prior episodes were treated with antibiotics with incomplete resolution. Imaging revealed a cystic lesion centered in the ITF. She was taken for endoscopic endonasal biopsy of the lesion and had no complications. Pathology revealed a mature teratoma composed primarily of pancreatic tissue. Providers should consider masses such as teratoma in the differential for ITF tumors and periorbital edema unresponsive to typical treatment.

颞下窝(ITF)肿瘤在儿童中很少见,可能会出现各种症状。畸胎瘤是源自三个胚层的肿瘤,约有 6% 至 10% 发生在头颈部。我们的研究讨论了首例报道的 ITF 儿童畸胎瘤病例。一名 3 岁女孩两年来每月反复出现左侧眶周肿胀,并伴有发热、皮肤变色和疼痛。之前曾用抗生素治疗,但效果不明显。影像学检查发现以 ITF 为中心的囊性病变。她接受了鼻内镜下病灶活检,没有出现并发症。病理结果显示这是一个主要由胰腺组织构成的成熟畸胎瘤。在鉴别 ITF 肿瘤和对一般治疗无效的眶周水肿时,医疗人员应考虑畸胎瘤等肿块。
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引用次数: 0
Corrigendum to "Blue Rubber Bleb Nevus Syndrome Presenting as Anemia, Hemorrhage, and Hemangiomas: A Rare Case Report". 以贫血、出血和血管瘤为表现的蓝色橡胶痣综合征:罕见病例报告 "的更正。
IF 1 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-05-24 eCollection Date: 2024-01-01 DOI: 10.1177/11795476241256213

[This corrects the article DOI: 10.1177/11795476231173503.].

[This corrects the article DOI: 10.1177/11795476231173503.].
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引用次数: 0
Superior Mesenteric Artery Syndrome in an 11-Year-Old Boy: A Case Report. 一名 11 岁男孩的肠系膜上动脉综合征:病例报告。
IF 1 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-05-23 eCollection Date: 2024-01-01 DOI: 10.1177/11795476241257036
Sakar Babu Gharti, Nischal Shrestha, Kaushal Samsher Thapa, Rajat Shah, Priti Khanal, Rajnish Kumar Shah, Sanjeeb Babu Gharti, Umesh Tiwari

Superior Mesenteric Artery Syndrome (SMAS) is a rare but potentially life-threatening condition caused by the compression of the duodenum by the superior mesenteric artery. We report a case of an 11-year-old male who complaint of abdominal pain and intermittent vomiting for last 3 weeks. Diagnosis of SMAS was made with the help of radiological findings. The patient was managed conservatively with nutritional support, prokinetic agents, and stomach decompression. After 2 weeks of treatment, the patient's symptoms improved, and he was discharged from the hospital.

肠系膜上动脉综合征(SMAS)是一种因肠系膜上动脉压迫十二指肠而引起的罕见病症,但有可能危及生命。我们报告了一例 11 岁男性病例,他主诉腹痛和间歇性呕吐已持续 3 周。在放射学检查结果的帮助下,确诊为 SMAS。患者接受了营养支持、促动力药和胃减压等保守治疗。治疗两周后,患者的症状有所改善,康复出院。
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引用次数: 0
Polyneuropathy as an initial manifestation of Hereditary Transtyretin Amyloidosis (ATTRV) in a young patient: Case report of a diagnostic challenge. 一名年轻患者的多发性神经病是遗传性经丝体淀粉样变性(ATTRV)的最初表现:诊断难题的病例报告。
IF 1 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-05-15 eCollection Date: 2024-01-01 DOI: 10.1177/11795476241253106
Julieth Vivian Sarmiento Palma, Santiago Sambracos Parrado, Maria Camila Echeverria, Paula Ruiz Talero

We report the case of a 27-year-old man with transthyretin amyloidosis secondary to the p.Val142Ile mutation with an atypical clinical presentation of predominantly lower limb polyneuropathy without cardiac involvement. p.Val142Ile is mainly associated with cardiopathy, whereas the neuropathic phenotype is mainly associated with p.Val50Met. Our patient belongs to a non-endemic region and due to his lack of support network a possible familial component is unknown. His case represents a diagnostic challenge given the wide heterogeneity of clinical manifestations associated with the disease, with other possible diagnoses of polyneuropathy being reasonably excluded according to prevalence and frequency. The particularly unusual genotype-phenotype association distinguishes this case from the classic description of transthyretin amyloidosis secondary to p.Val142Ile.

我们报告了一例继发于 p.Val142Ile 突变的转甲状腺素淀粉样变性病的 27 岁男性患者,其临床表现不典型,主要为下肢多发性神经病,无心脏受累。我们的患者来自一个非流行地区,由于他缺乏支持网络,可能的家族遗传因素尚不清楚。他的病例是一个诊断难题,因为该病的临床表现具有广泛的异质性,根据发病率和发病频率可以合理地排除其他可能的多发性神经病诊断。该病例的基因型-表型关联特别不寻常,有别于继发于 p.Val142Ile 的转甲状腺素淀粉样变性的经典描述。
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引用次数: 0
Surgical Myectomy and Myotomy for Refractory Blepharospasm in Meige Syndrome Patients: A Case Report. 梅杰综合征患者难治性眼睑痉挛的肌层切除术和肌切开术:病例报告。
IF 1 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-05-14 eCollection Date: 2024-01-01 DOI: 10.1177/11795476241254266
Ming-Ming Li, Zhi-Min Cen, Huang Zhang, Zhong-Ling Luo

Meige syndrome is a rare neurological disease characterized by segmental dystonia, specifically blepharospasm and oromandibular dystonia. These symptoms are often accompanied by complex movements of the eyelids, lower facial muscles, mandible, and neck muscles. Bilateral blepharospasm is the most common feature of this disease. In this case report, we present the successful treatment of refractory blepharospasm in a 72-year-old woman with Meige syndrome via 2 incisions resulting from myectomy and in situ surgery.

梅杰综合征是一种罕见的神经系统疾病,以节段性肌张力障碍为特征,特别是眼睑痉挛和口颌肌张力障碍。这些症状通常伴有眼睑、面部下部肌肉、下颌骨和颈部肌肉的复杂运动。双侧眼睑痉挛是这种疾病最常见的特征。在这篇病例报告中,我们介绍了如何通过肌层切除术和原位手术的两个切口成功治疗一名 72 岁女性梅杰综合征患者的难治性眼睑痉挛。
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引用次数: 0
A Case Report of Asthma Exacerbation Induced by Excessive Drinking Water. 过量饮水诱发哮喘加重的病例报告
IF 1 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-05-12 eCollection Date: 2024-01-01 DOI: 10.1177/11795476241253107
Shunxin Lv, Huachen Jiao, Ying Qu, Mengdi Zhang, Rui Wang, Yan Li, Feng Jiang, Laiyun Xin

Excessive water consumption is an extremely rare and potential asthma risk factor with very few cases reported in the literature. Common triggers of asthma include genetic factors, smoking, allergens, and viral respiratory infections. The adult patient with asthma reportedly drank too much water and was unable to get relief from his asthma while hospitalized. The patient's asthma was better controlled with the use of diuretics and control of the patient's fluid intake and output. This case explores asthma induced by excessive drinking of water.

过量饮水是一种极为罕见的潜在哮喘风险因素,文献中仅有极少数病例报道。哮喘的常见诱因包括遗传因素、吸烟、过敏原和病毒性呼吸道感染。据报道,该哮喘成年患者喝水过多,住院期间哮喘无法缓解。通过使用利尿剂和控制患者的液体摄入量和排出量,患者的哮喘得到了较好的控制。本病例探讨了过量饮水诱发的哮喘。
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引用次数: 0
Idiopathic Granulomatous Vulvitis: A Case Report on a Rare Disease. 特发性肉芽肿性外阴炎:罕见疾病的病例报告
IF 1 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-05-08 eCollection Date: 2024-01-01 DOI: 10.1177/11795476241253109
Jihan M Muhaidat, Enas A Alhaje, Firas A Al-Qarqaz, Diala M Alshiyab, Almutazballlah Bassam Qablan

Idiopathic granulomatous vulvitis is an uncommon anogenital area disease described in the last few decades. It causes an inflammatory reaction that culminates in swelling and possibly distortion of the female anogenital area. Many reported cases consider this non-infectious entity the genital counterpart to granulomatous cheilitis. We here present a 64 years old female patient with idiopathic granulomatous vulvitis co-existing with lipodermatosclerosis, with the excellent response of the former condition to hydroxychloroquine and potent topical steroids.

特发性肉芽肿性外阴炎是近几十年来出现的一种不常见的外阴部位疾病。这种疾病会引起炎症反应,最终导致女性外阴部位肿胀并可能变形。许多报告的病例都认为这种非感染性疾病与肉芽肿性阴道炎类似。我们在此介绍一位 64 岁的女性患者,她患有特发性肉芽肿性外阴炎,同时还伴有脂溢性皮肤硬化症,前者对羟氯喹和强效外用类固醇类药物反应良好。
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引用次数: 0
Primary Tuberculosis of the Pharynx in an HIV Context: A Case Report. 艾滋病毒背景下的原发性咽部结核病:病例报告。
IF 1 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-05-05 eCollection Date: 2024-01-01 DOI: 10.1177/11795476241251945
Cristian Morán-Mariños, Felix Llanos-Tejada, Renzo Villanueva-Villegas, Kanneth G Vargas-Ponce, Juan Salas-López

Pharyngeal tuberculosis without pulmonary involvement is very rare and may be confused with malignant lesions. We present a 45-year-old female patient with a history of HIV presenting with a history of cough, sore throat, and oral ulcers with chronic use of antibiotics. The evolution would indicate a probable malignant tumor, but the biopsy was consistent with Pharyngeal TB. The patient initiated anti-tuberculosis therapy and demonstrated improved conditions and remission of ulcers. In the context of HIV, this treatment could be a major contributor to the underdiagnosis of the disease and may lead to alternative diagnoses. Therefore, it is vital to consider this condition in patients who do not respond to antibiotics.

无肺部受累的咽部结核非常罕见,可能与恶性病变混淆。我们为大家介绍一位 45 岁的女性患者,她有 HIV 感染史,长期使用抗生素后出现咳嗽、咽痛和口腔溃疡。其病理变化表明可能是恶性肿瘤,但活检结果却与咽结核一致。患者开始接受抗结核治疗,病情有所好转,溃疡也有所缓解。在艾滋病毒感染的情况下,这种治疗可能是导致疾病诊断不足的主要原因,并可能导致其他诊断。因此,在抗生素治疗无效的患者中考虑这种情况至关重要。
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引用次数: 0
Kartagener's Syndrome Complicated by Bronchiectasis with Tricuspid and Mitral Valve Regurgitation: A Case Report. 支气管扩张并发三尖瓣和二尖瓣反流的卡塔格纳综合征:病例报告
IF 1 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-05-03 eCollection Date: 2024-01-01 DOI: 10.1177/11795476241251940
Rayyan Vaid, Areeba Fareed, Maaz Ahmad Siddiqui

Background: Kartagener's syndrome, a rare autosomal recessive genetic disorder, is characterized by primary ciliary dyskinesia (PCD), resulting in defective cilia function in the respiratory tract and fallopian tubes.

Case presentation: This case report discusses a 23-year-old female with Kartagener's syndrome, bronchiectasis, and cardiac involvement, who presented with shortness of breath, cough, and syncope. Notably, she received home oxygen therapy but became exhausted, leading to loss of consciousness. Clinical examination revealed prominent heart sounds and abnormal lung findings. Laboratory results indicated leukocytosis, and an ECG confirmed dextrocardia and cardiac abnormalities. Doppler studies identified mitral and tricuspid regurgitation along with severe pulmonary arterial hypertension. Antibiotics were administered for coagulase-negative Staphylococcus infection. The patient improved with a treatment regimen, including oxygenation and nebulization. Regular follow-up and patient education were emphasized.

Conclusion: This case underscores the complexity of Kartagener's syndrome and the importance of a multidisciplinary approach in managing its respiratory and cardiac manifestations.

背景:卡塔格纳综合征是一种罕见的常染色体隐性遗传疾病,其特征是原发性纤毛运动障碍(PCD),导致呼吸道和输卵管的纤毛功能缺陷:本病例报告讨论了一名 23 岁女性患者,她患有卡塔格纳综合征、支气管扩张和心脏受累,表现为呼吸急促、咳嗽和晕厥。值得注意的是,她接受了家庭氧疗,但却精疲力竭,导致意识丧失。临床检查发现她心音突出,肺部异常。化验结果显示白细胞增多,心电图证实她患有右心室和心脏异常。多普勒检查发现二尖瓣和三尖瓣反流,并伴有严重的肺动脉高压。患者因凝固酶阴性葡萄球菌感染而服用了抗生素。通过包括吸氧和雾化在内的治疗方案,患者病情有所好转。我们强调定期随访和患者教育:本病例强调了卡塔格纳综合征的复杂性,以及采用多学科方法治疗其呼吸和心脏表现的重要性。
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引用次数: 0
Treatment With a Patented 3.6:1 Myo-Inositol to D-chiro-Inositol Ratio, Antioxidants, Vitamins and Minerals Food Supplement in Women With a History of Assisted Reproductive Technique (ART) Failures: A Series of Case Reports. 在有辅助生殖技术(ART)失败史的妇女中使用 3.6:1 肌醇与 D-chiro-Inositol 比率的专利肌醇、抗氧化剂、维生素和矿物质食品补充剂进行治疗:系列病例报告。
IF 1 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-03-29 eCollection Date: 2024-01-01 DOI: 10.1177/11795476241242265
A Armijo-Sánchez, N Benítez Castillo, E García-Vidal, M Luna Chadid, C Salvador Ballada, G Valls Ricart, V Torres Pellens

Infertility affects 15% of couples in reproductive age worldwide. In women in particular, infertility can be caused by various abnormalities, with polycystic ovary syndrome (PCOS) being the most common. Currently, there are many assisted reproductive techniques (ART) available to combat the burden of infertility. However, positive results are not guaranteed. The administration of inositol has been shown to increase positive reproductive outcomes in women undergoing ART. Here we present a series of clinical cases in which women with a history of infertility and previously failed ART, supplemented with a specific 3.6:1 MYO:DCI ratio, antioxidants, vitamins, and minerals for a period of 1 to 3 months before undergoing in vitro fertilization (IVF). In this series of case reports, we provide preliminary evidence that supplementation with a specific 3.6:1 MYO to DCI ratio, as well as antioxidants, vitamins, and minerals may contribute positively to female fertility in women undergoing IVF, with a history of primary or secondary infertility and previously failed ART.

全世界有 15%的育龄夫妇患有不孕症。尤其是女性,不孕症可由各种异常情况引起,其中多囊卵巢综合症(PCOS)最为常见。目前,有许多辅助生殖技术(ART)可用于解决不孕不育问题。然而,积极的结果并不能保证。有研究表明,服用肌醇可提高接受 ART 的妇女的生殖效果。在这里,我们介绍了一系列临床病例,这些病例中的女性都有不孕史,并且之前接受过失败的抗逆转录病毒疗法(ART),她们在接受体外受精(IVF)前的 1 到 3 个月内补充了特定的 3.6:1 MYO:DCI 比值、抗氧化剂、维生素和矿物质。在这一系列病例报告中,我们提供了初步证据,证明对有原发性或继发性不孕史且曾接受过失败的人工受精术的女性来说,补充特定的 3.6:1 MYO 与 DCI 比值以及抗氧化剂、维生素和矿物质可能会对接受体外受精的女性的生育能力起到积极作用。
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引用次数: 0
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Clinical Medicine Insights. Case Reports
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