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Right pneumothorax, pneumomediastinum, pneumoperitoneum, pneumoretroperitoneum, and subcutaneous emphysema as rare complications after ERCP: a case report. ERCP术后罕见并发症之右气胸、气胸、气腹、气胸和皮下气肿:病例报告。
IF 0.5 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-09-22 eCollection Date: 2024-09-01 DOI: 10.1093/omcr/omae118
Ghassan Bayat, Farah Haneyah, Laura Merjaneh, Sultaneh Haddad, Aboud Thaljah, Jack Zambakjian, Mike Ghabally

Endoscopic retrograde cholangiopancreatography is a complex procedure with a significant risk of severe consequences. We herein report a 56-year-old Middle Eastern female who was diagnosed with acute ascending cholangitis. Endoscopic retrograde cholangiopancreatography was performed with gallstone absorption and stent implanting. However, the patient developed significant pneumothorax; pneumomediastinum, pneumoperitoneum, pneumoretroperitoneum, and subcutaneous emphysema of the abdomen, chest, right arm and shoulder, face and right orbital area. Radiological studies demonstrated no evidence of perforation on bowel obstruction. The patient was treated successfully with good results and post-operative follow-up was unremarkable. In conclusion, air leakage following endoscopic retrograde cholangiopancreatography without evidence of perforation is extremely rare. While pneumothorax development usually requires thoracostomy; pneumomediastinum, pneumoperitoneum, pneumoretroperitoneum, and subcutaneous emphysema are usually treated conservatively.

内镜逆行胰胆管造影术是一项复杂的手术,存在发生严重后果的巨大风险。我们在此报告一名 56 岁的中东女性,她被诊断为急性升支胆管炎。患者接受了内镜逆行胰胆管造影术,吸收了胆石并植入了支架。然而,患者出现了明显的气胸;腹腔积气、腹膜积气、腹膜后积气以及腹部、胸部、右臂和肩部、面部和右眼眶部位的皮下气肿。放射学检查未发现肠梗阻穿孔迹象。患者治疗成功,效果良好,术后随访无异常。总之,内镜逆行胰胆管造影术后出现漏气但无穿孔证据的情况极为罕见。气胸的发生通常需要进行胸腔造口术;而气胸、腹腔积气、腹膜后积气和皮下气肿通常采用保守治疗。
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引用次数: 0
Phenotypic presentation of MEN1 c.758delC (p.Ser253Cysfs *28) pathogenic variant: a case report. MEN1 c.758delC (p.Ser253Cysfs *28)致病变体的表型表现:病例报告。
IF 0.5 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-09-22 eCollection Date: 2024-09-01 DOI: 10.1093/omcr/omae111
Antonio Mancini, Paola Concolino, Edoardo Vergani, Alessandro Oliva, Giuseppe Macis, Emanuela Traini, Esther Diana Rossi

MEN1 is a rare syndrome caused by mutations in the MEN1 gene. We describe a clinical case of MEN1 syndrome associated with a recently discovered pathogenic mutation of MEN1 gene. A 32-year-old man with a history of osteopenia, nephrolithiasis, hypercalcemia and hypophosphatemia, impaired fasting glucose, and asthenia was admitted to our outpatient unit. Primary hyperparathyroidism, sustained by three hyperplastic parathyroid glands, was diagnosed. Prolactin- and GH-secreting adenomas were ruled out. After undergoing subtotal parathyroidectomy, the patient was diagnosed with non-functioning pituitary adenoma, three pancreatic lesions, and Cushing syndrome sustained by left adrenal adenoma. The patient underwent left adrenal surgery; somatostatin analogue lanreotide was started for the pancreatic lesions; the pituitary adenoma, being small and non-secreting, was not treated. A genetic test was performed to confirm the diagnosis of MEN1 syndrome, finding an association with a recently discovered mutation: the (NM_130799.2):c.758delC (p.Ser253Cysfs*28) in exon 4.

MEN1 是一种由 MEN1 基因突变引起的罕见综合征。我们描述了一例与最近发现的 MEN1 基因致病突变有关的 MEN1 综合征临床病例。门诊部收治了一名 32 岁的男性患者,他患有骨质疏松症、肾结石、高钙血症和低磷血症、空腹血糖受损和气喘。诊断结果为原发性甲状旁腺功能亢进症,由三个增生的甲状旁腺维持。排除了分泌催乳素和促甲状腺激素的腺瘤。在接受甲状旁腺次全切除术后,患者被诊断出患有无功能垂体腺瘤、三个胰腺病变以及由左肾上腺腺瘤引发的库欣综合征。患者接受了左肾上腺手术;开始使用体生长激素类似物兰瑞奥肽治疗胰腺病变;垂体腺瘤较小且无分泌,因此未接受治疗。为了确诊 MEN1 综合征,对患者进行了基因检测,结果发现该病与最近发现的一个基因突变有关:第 4 外显子中的 (NM_130799.2):c.758delC (p.Ser253Cysfs*28) 基因突变。
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引用次数: 0
A case of acute lithium poisoning and hypermagnesemia involving advanced colon cancer-induced colonic obstruction. 一例急性锂中毒和高镁血症病例,涉及晚期结肠癌引发的结肠阻塞。
IF 0.5 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-09-12 eCollection Date: 2024-09-01 DOI: 10.1093/omcr/omae107
Hideo Takayama, Takuya Komura, Taro Kawane, Toshiki Matsuo, Makiko Kimura, Masashi Nishikawa, Kiyoki Kitagawa, Wataru Omi, Kenichi Sakajiri, Ichiro Onishi, Satoru Sakagami, Taro Yamashita, Takashi Kagaya

An 83-year-old woman presented with disturbance of consciousness and hand tremor. She had taken lithium carbonate 300 mg/day for bipolar disorder and magnesium oxide 660 mg/day for constipation. Blood tests revealed lithium poisoning, hypermagnesemia and acute kidney injury. Computed tomography showed colonic obstruction caused by cancer of the descending colon. In the outpatient section, her blood pressure decreased to 89/54 mmHg, and her heart rate dropped to 40 bpm. We considered that the obstructive ileus induced intravascular dehydration, which led to toxic serum concentrations of lithium and magnesium, triggering the emergence of severe arrythmia induced by sinus dysfunction. The patient was treated with fluid resuscitation and hemodialysis, followed by endoscopic stent replacement for the descending colon cancer obstruction. These treatments improved her general condition and alleviated the lithium poisoning, hypermagnesemia and colonic obstruction. Such a case is considered extremely rare.

一名 83 岁的妇女因意识障碍和手颤抖前来就诊。她曾服用碳酸锂 300 毫克/天治疗双相情感障碍,服用氧化镁 660 毫克/天治疗便秘。血液检查显示她锂中毒、高镁血症和急性肾损伤。计算机断层扫描显示,降结肠癌导致结肠阻塞。在门诊部,她的血压降至 89/54 mmHg,心率降至 40 bpm。我们认为,梗阻性回肠引起了血管内脱水,导致血清中锂和镁浓度中毒,引发了由窦性功能障碍引起的严重心律失常。患者接受了液体复苏和血液透析治疗,随后接受了内窥镜支架置换术治疗降结肠癌梗阻。这些治疗改善了她的一般状况,缓解了锂中毒、高镁血症和结肠阻塞。这样的病例极为罕见。
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引用次数: 0
Unmasking bowel obstruction in a Parkinson's patient: the influence of cognitive bias in frailty medicine. 揭开帕金森病人肠梗阻的面纱:虚弱医学中认知偏差的影响。
IF 0.5 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-09-12 eCollection Date: 2024-09-01 DOI: 10.1093/omcr/omae109
Harvey Stevenson, Daniele Ramsay, Waseem Jerjes

Recognising emergent acute pathology in the context of established chronic conditions can be challenging and is often overlooked due to cognitive biases in the physician's decision making. In the context of Parkinson's disease (PD), there is a large overlap between the non-motor symptoms of PD, common gastrointestinal symptoms amongst the elderly population, and symptoms associated with acute, severe GI pathology, which can result in diagnostic overshadowing. Here, a 68-year-old man with a background of PD reported nausea, constipation, and abdominal discomfort during routine frailty review by his general practitioner (GP). The patient reported these were common symptoms which usually resolved with laxatives. Aware of the potentially sinister nature of this presentation, the GP arranged transfer to the emergency department where CT subsequently revealed a closed-loop small bowel obstruction. This case highlights how frailty medicine is particularly susceptible to cognitive biases, which are commonly cited sources of medical errors.

在已确诊的慢性疾病背景下识别突发急性病理变化可能具有挑战性,而且由于医生决策过程中的认知偏差而经常被忽视。就帕金森病(PD)而言,帕金森病的非运动症状、老年人群中常见的胃肠道症状以及与急性、严重消化道病变相关的症状之间存在很大的重叠,这可能会导致诊断结果被掩盖。在这里,一名有帕金森病背景的 68 岁男性在接受全科医生(GP)的常规虚弱审查时报告了恶心、便秘和腹部不适。患者称这些都是常见症状,通常服用泻药即可缓解。全科医生意识到这一症状的潜在危险性,于是安排患者转到急诊科就诊,CT 随后显示患者患有闭环性小肠梗阻。本病例强调了虚弱医学如何特别容易受到认知偏差的影响,而认知偏差正是医疗事故的常见原因。
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引用次数: 0
Silver hair in a neonate: a tale of 2 fatal cases. 新生儿银发:两个致命病例的故事。
IF 0.5 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-09-12 eCollection Date: 2024-09-01 DOI: 10.1093/omcr/omae106
Lakshmi Satish Kumar, Prashanth Ranya Raghavendra, Sruthi Nair, Muthu Vijaya Nathan D, Umair Ahmed Bargir, Anitha Haribalakrishna, Sunanda Arun Mahajan

Silver hair in a neonate is an uncommon occurrence. The aetiology of this condition is varied and is associated with immunodeficiency disorders such as Griscelli syndrome and Chédiak-Higashi syndrome. A preterm neonate with Griscelli syndrome type 2 might present with just silver colour staining of hair including the lanugo hair with no other complications. In those with associated systemic abnormalities such as congenital pulmonary airway malformation, further evaluation for conditions such as Menke-Kinke hair syndrome is required. In this case series, we describe two unique cases of silver hair syndrome in preterm neonates with their clinical description, course in the hospital, role of hair mount and genetic testing for further identification and diagnosis of this disorder.

新生儿出现银发并不常见。这种情况的病因多种多样,与免疫缺陷疾病(如格里斯切利综合征和 Chédiak-Higashi 综合征)有关。患有格里斯切利综合征 2 型的早产新生儿可能仅表现为头发银色染色,包括羊角风,而无其他并发症。如果伴有先天性肺气道畸形等全身异常,则需要进一步评估是否患有门克-金克毛发综合征等疾病。在本病例系列中,我们描述了两例早产新生儿银发综合征的独特病例,包括其临床描述、住院过程、毛发安装的作用以及进一步鉴定和诊断该疾病的基因检测。
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引用次数: 0
Correction to: Cardiogenic shock without hypotension in acute severe primary mitral regurgitation: a case report. 更正:急性严重原发性二尖瓣返流无低血压的心源性休克:病例报告。
IF 0.5 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-09-12 eCollection Date: 2024-09-01 DOI: 10.1093/omcr/omae136

[This corrects the article DOI: 10.1093/omcr/omae018.].

[此处更正了文章 DOI:10.1093/omcr/omae018]。
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引用次数: 0
An unusual case of oral mucosal melanoma successfully treated by carbon-ion radiotherapy. 通过碳离子放射治疗成功治愈口腔黏膜黑色素瘤的罕见病例。
IF 0.5 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-09-12 eCollection Date: 2024-09-01 DOI: 10.1093/omcr/omae108
Hiroaki Ikawa, Masashi Koto
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引用次数: 0
Ventricular Tachyarrhythmia in a Newborn Baby. 新生儿室性心动过速。
IF 0.5 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-09-07 eCollection Date: 2024-09-01 DOI: 10.1093/omcr/omae103
Alexander Paul Henning Maclennan, Emily Sitner-Medvedovsky, Daryelle Varon, Abhinav Parikh, Ankur Shah, Manoj Chhabra

Supraventricular tachycardia (SVT) is a narrow QRS complex tachyarrhythmia with a heart rate above 220 beats per minute in infants and children. Ventricular tachycardia can be due to electrolyte abnormalities, cardiomyopathies, congenital heart disease, myocarditis or drug toxicity. Incidence has been estimated to be 1 in 250 to 1 in 1000 with spontaneous resolution in infants by one year of life. We present a full-term neonate who started experiencing a tachyarrhythmia on day zero of life until she reverted to sinus rhythm on day nine of life. The rhythm was most likely a ventricular tachyarrhythmia rather than supraventricular tachycardia due to its unresponsiveness to adenosine, wide QRS complexes, and lack of association with hemodynamic instability. This is a unique case presentation of a ventricular tachyarrhythmia for its diagnostic and therapeutic challenges, it's idiopathic nature and lack of association with any cardiac compromise, congenital heart disease or electrolyte imbalance.

室上性心动过速(SVT)是一种窄 QRS 波群的快速性心律失常,在婴儿和儿童中心率超过每分钟 220 次。室性心动过速可由电解质异常、心肌病、先天性心脏病、心肌炎或药物中毒引起。据估计,室性心动过速的发病率为 1:250 至 1:1000,婴儿在出生后一岁内可自发缓解。我们接诊了一名足月新生儿,她从出生后第 0 天开始出现快速性心律失常,直到出生后第 9 天恢复为窦性心律。这种心律很可能是室性快速性心律失常,而不是室上性心动过速,因为它对腺苷无反应、QRS 波群宽且与血流动力学不稳定无关。这是一例独特的室性快速心律失常病例,因为它在诊断和治疗方面存在挑战,而且是特发性的,与任何心脏损害、先天性心脏病或电解质失衡都没有关联。
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引用次数: 0
An unusual case of incidental pancreatic neuroendocrine tumor presenting with main pancreatic duct cystic dilatation. 一例伴有主胰管囊性扩张的胰腺神经内分泌肿瘤罕见病例。
IF 0.5 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-09-07 eCollection Date: 2024-09-01 DOI: 10.1093/omcr/omae104
Samuel Essoun, Nii A Adu-Aryee, Henry E Obaka, Bernard Seshie, Dzifa Dey, Simon Naporo

Introduction: Pancreatic lesions have varied morphology and presentation making their diagnosis challenging. The lesions may be asymptomatic incidentalomas on abdominal imaging for other conditions, symptomatic producing specific hormone effects or causing local effects.

Case: We report a 35-year-old woman with recurrent abdominal pain confirmed gastroesophageal reflux disease. Initial CT imaging reported findings of a pancreatic pseudocysts. A careful review of the imaging showed cystic dilatation of the main pancreatic duct mimicking a main pancreatic duct intra-ductal papillary mucinous neoplasm. At surgery, a small nodule palpated in the pancreatic head with sacculation in the body and tail. A histopathological review showed a pancreatic neuroendocrine tumour blocking the main pancreatic duct at the neck causing downstream dilatation and sacculation. This case highlights the difficulty of diagnosing small asymptomatic pancreatic tumours especially with limited range of imaging modalities while increasing awareness of these conditions to improve our ability to manage them effectively.

简介胰腺病变的形态和表现多种多样,因此诊断具有挑战性。这些病变可能是其他疾病的腹部影像学检查中无症状的偶发瘤,也可能是产生特定激素效应或造成局部影响的无症状病变:我们报告了一名 35 岁女性的病例,她因反复腹痛被确诊为胃食管反流病。最初的 CT 成像报告发现了胰腺假性囊肿。仔细复查后发现主胰腺导管囊性扩张,模仿主胰腺导管内乳头状粘液瘤。手术时,在胰腺头部摸到一个小结节,胰腺体和胰腺尾部有囊状结构。组织病理学检查显示,胰腺神经内分泌肿瘤堵塞了颈部的主胰管,导致下游扩张和囊状。该病例强调了诊断无症状的小胰腺肿瘤的难度,尤其是在影像学检查手段有限的情况下,同时提高了人们对这些疾病的认识,从而提高了我们有效管理这些疾病的能力。
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引用次数: 0
Secondary corneal keloid: a report of two cases. 继发性角膜瘢痕疙瘩:两例病例报告。
IF 0.5 Q3 MEDICINE, GENERAL & INTERNAL Pub Date : 2024-09-07 eCollection Date: 2024-09-01 DOI: 10.1093/omcr/omae105
Ali Sharifi, Touraj-Reza Mirshekari, Milad Azh, Hamid Sadeghi, Zahra Akbari, Amin Zand

We conducted clinical and histological evaluations on two male patients who presented with corneal keloid. One patient had a history of corneal trauma due to contact with boiling sunflower oil, while the other had undergone pterygium removal. Upon slit lamp examination, the corneal lesions were identified as single, well-circumscribed, pearly white nodules with a smooth surface. We successfully removed these nodules using a combination of superficial keratectomy and the application of mitomycin C. Light microscopy analysis of the excised nodules revealed hyperplastic epithelium, disrupted Bowman's layer, and irregularly arranged abundant collagen fibers within the stroma. Notably, there was no recurrence of the lesions in either case within six months following the surgical excision. Secondary corneal keloids should be considered as a potential diagnosis in patients with elevated corneal nodules, especially when there is a history of ocular surface trauma or surgery.

我们对两名患有角膜瘢痕疙瘩的男性患者进行了临床和组织学评估。其中一名患者曾因接触沸腾的葵花籽油而造成角膜外伤,另一名患者则接受过翼状胬肉切除术。裂隙灯检查发现,患者的角膜病变为单个、圆形、珍珠白结节,表面光滑。对切除的结节进行光镜分析,发现上皮细胞增生,鲍曼层破坏,基质中有排列不规则的大量胶原纤维。值得注意的是,在手术切除后的六个月内,两个病例的病变都没有复发。对于角膜结节隆起的患者,尤其是有眼表外伤或手术史的患者,应考虑将继发性角膜瘢痕疙瘩作为潜在的诊断依据。
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引用次数: 0
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Oxford Medical Case Reports
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