OpenMed/multicare-articles huggingface dataset:
Esophageal atresia type C with overlapping long upper pouch: A rare variant
Authors: Samuel Negash, Hiwote Girma, Hanna Getachew Woldeselassie
Journal: Int J Surg Case Rep (2020)
Keywords: case report, delayed diagnosis, esophageal atresia, long upper esophageal pouch, survival
MeSH terms: Case Reports

Background:
Esophageal atresia is one of the most common pediatric surgical conditions with a high mortality in developing countries. The esophagus and trachea have a complex embryologic development leading to a wide spectrum of esophageal atresia anomalies. Long upper esophageal pouch with distal tracheoesophageal fistula is one of these rare varieties. Only a handful of case reports exist on the subject thus far. Most reports are from low income countries.
Case presentation:
A neonate referred to our hospital after 2 weeks of life for excessive secretions, persistent respiratory distress and vomiting. Diagnosis of esophageal atresia was overlooked because nasogastric tube was advanced a considerable length. After repeat x-ray and esophagogram, we confirmed the diagnosis of type C esophageal atresia with a long upper esophageal pouch. Due to the dilemma in diagnosis, surgery was delayed after the 3rd week of life. Luckily the child survived even with extremely delayed intervention.
Conclusion:
Esophageal atresia can have an uncommon presentation which causes confusion in the diagnosis. Physicians need to be aware of its existence to avoid unnecessary delays in the management. Fortunately, this variant generally seems to have a good prognosis.
A Deeper Curse: A Hirschsprung Patient's Evaluation Unmasks a Rare Association with Congenital Central Hypoventilation Syndrome and Neuroblastoma
Authors: Shimon Eric Jacobs, Laura Tiusaba, Elizaveta Bokova, Tamador Al-Shamaileh, Teresa Lynn Russell, Emily C Rutan, Harutyun Haroyan, Yong Wang, Christina Feng, Andrea Badillo, Marc A Levitt
Journal: European J Pediatr Surg Rep (2022)
Keywords: haddad syndrome, hirschsprung disease, phox2b gene, congenital central hypoventilation syndrome, neuroblastoma
MeSH terms: Case Reports

We present a rare case of a 2-year-old male patient referred for primary evaluation of constipation and ultimately treatment of Hirschsprung disease (HSCR) whose preoperative workup incidentally revealed a posterior paraspinal mass. Following the biopsy of the mass, the patient exhibited hypoventilation and hypoxia requiring a delayed extubation, raising suspicion for congenital central hypoventilation syndrome (CCHS). We focus on the known history of associations between HSCR and CCHS, in addition to recently found genetic mutations in paired-like homeobox 2B that link HSCR, CCHS, and neuroblastoma.
A rare case of heterotaxy and left ventricular non-compaction in an adult
Authors: A Chacko, L Scholtz, S Vedajallam, C van Wyk
Journal: Cardiovasc J Afr (2016)
MeSH terms: Heterotaxy Syndrome / pathology, Heterotaxy Syndrome / surgery, Ventricular Function, Left / physiology, Case Reports, Echocardiography / methods, Heterotaxy Syndrome / complications, Heterotaxy Syndrome / diagnosis, Humans, Lung / pathology, Male, Middle Aged, Treatment Outcome

Heterotaxy syndrome with left ventricular non-compaction is a rare co-existence of abnormalities with unknown cause. It can be isolated with no other associations, or associated with congenital heart diseases, or it can occur with multiple other congenital abnormalities. We describe the third reported case of heterotaxy syndrome with left ventricular non-compaction presenting in an adult.
Hymenolepiasis in a Pregnant Woman: A Case Report of Hymenolepis nana Infection
Authors: Venkataramana Kandi, Sri Sandhya Koka, Mohan Rao Bhoomigari
Journal: Cureus (2019)
Keywords: adults, asymptomatic, children, h diminuta, h nana, hymenolepiasis, hymenolepis nana, pregnant woman
MeSH terms: Case Reports

Hymenolepiasis is an infection caused by Hymenolepis nana (H. nana) and H. diminuta (H. diminuta). Hymenolepiasis is prevalent throughout the world with human infections with H. nana being frequently reported in the literature as compared to H. diminuta. Hymenolepiasis is more frequent among children, and most human infections remain asymptomatic and self-limited. Symptoms including abdominal pain, diarrhea, and vomiting are frequently noted in the cases of heavy infections. We report a case of hymenolepiasis caused by H. nana in a pregnant woman.
Posttraumatic Proximal Radioulnar Synostosis after Closed Reduction for a Radial Neck and Olecranon Fracture
Authors: Patrick R Keller, Heather A Cole, Christopher M Stutz, Jonathan G Schoenecker
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

Posttraumatic proximal radioulnar synostosis (PPRUS) is a severe complication of radial head and neck fractures known to occur after severe injury or operative fixation. Cases of PPRUS occurring after minimally displaced, nonoperatively treated radial neck injuries are, by contrast, extremely rare. Here, we present a pediatric case of PPRUS that developed after a nonoperatively treated minimally displaced radial neck fracture with concomitant olecranon fracture. While more cases are needed to establish the association between this pattern of injury and PPRUS, we recommend that when encountering patients with a minimally displaced radial neck fracture and a concomitant elbow injury, the rare possibility of developing proximal radioulnar synostosis should be considered.
An Unusual Case of Unilateral Epistaxis: The Hidden Bloodsucker
Authors: Nadhirah Mohd Shakri, Mimi Ezreena Esa
Journal: Cureus (2023)
Keywords: endoscopic, epistaxis, hemorrhage, leech infestation, leeches, nasal bleed, nasal foreign body, primary care, recurrence
MeSH terms: Case Reports

Nasal leech infestation is a rare etiology of epistaxis. Due to its insidious presentation and inconspicuous site of infestation, it is possible for the primary care setting to miss the diagnosis. We report a case of nasal leech infestation in an eight-year-old male child who was repeatedly treated for upper respiratory infection before finally being referred to the otorhinolaryngology clinic. We emphasize the importance of having a high index of suspicion and thorough history taking, especially of jungle trekking and hill water exposure in unexplained recurrent epistaxis.
Healing of Large Endodontic Lesions Using Long-Term Application of a New Combination of Triple Antibiotics: A Series of Cases
Authors: Saeed Asgary, Ardavan Parhizkar
Journal: Case Rep Dent (2023)
MeSH terms: Case Reports

Apical periodontitis (AP) is defined as an inflammatory and destructive reaction of periapical tissues and a consequence of bacterial invasion to the dental pulp and root canal system. To avoid possible complications and undesirable repercussions of the surgical treatment of large AP, more conservative non-surgical approaches are endorsed. In the presented hopeless cases, a newly introduced modified combination of triple antibiotics, that is Penicillin G, metronidazole, and ciprofloxacin (PMC), was used as a long-term intracanal medication in the non-surgical endodontic retreatments of large AP. In the course of 10-month to 3-year follow-up, the large periapical lesions completely disappeared, and thorough bone healing was evident. Additionally, complete functionality of the involved teeth as well as other favourable treatment outcomes of the addressed cases showed that the long-term use of PMC, as a modified combination of antibiotics, in non-surgical endodontic retreatments may successfully resolve large AP. However, further investigations and well-designed controlled clinical trials are recommended.
Daily Vaginal Application of Dienogest (Visanne©) for 3 Months in Symptomatic Deeply Infiltrating Rectovaginal Endometriosis: A Possible New Treatment Approach?
Authors: Andreas D Ebert
Journal: Case Rep Obstet Gynecol (2018)
MeSH terms: Case Reports

A 27-year-old patient suffering from deeply infiltrating rectovaginal endometriosis was treated with 2 mg/day dienogest vaginally for 3 months. The therapy was tolerated very well. The patient reported less side effects compared to the oral use of dienogest. After 3 months of dienogest treatment, the rectovaginal gynecological examination identified the visible vaginal part of endometriosis in remission. The firm endometriosis node approximately 3 cm in size and approximately 10 cm ab ano was still palpable, but it was much less painful. The laboratory values for luteinizing hormone (LH) and follicle-stimulating hormone (FSH) were unremarkable, with an LH/FSH quotient of 0.7 during dienogest treatment, while 17-β estradiol and progesterone were suppressed. At palpation and vaginal ultrasonography, there was no change in the findings before and after 3 months of dienogest treatment, but the patient was now de facto asymptomatic. To the best of our knowledge, this is the first report of a vaginal dienogest treatment in symptomatic deeply infiltrating rectovaginal endometriosis. Vaginal administration of dienogest should receive further investigation in pharmacokinetic and clinical studies.
Dual Paraneoplastic Endocrine Syndromes Heralding Onset of Extrapulmonary Small Cell Carcinoma: A Case Report and Narrative Review
Authors: Jill B Feffer, Natalia M Branis, Jeanine B Albu
Journal: Front Endocrinol (Lausanne) (2018)
Keywords: pth-related peptide, androgen deprivation therapy, ectopic cushing’s syndrome, extrapulmonary small cell carcinoma, humoral hypercalcemia, neuroendocrine carcinoma
MeSH terms: Case Reports

Objective:
Extrapulmonary small cell carcinoma (EPSCC) is rare and frequent metastases at presentation can complicate efforts to identify a site of origin. In particular, SCC comprises <1% of prostate cancers and has been implicated in castration resistance.
Methods:
Clinical, laboratory, imaging, and pathology data are presented.
Results:
A 56-year-old man with locally advanced prostate adenocarcinoma on androgen deprivation therapy presented with a clogged nephrostomy tube. Laboratory results included calcium 13.8 mg/dL (8.5-10.5 mg/dL), albumin 3.6 g/dL (3.5-5 mg/dL), and potassium 2.8 mmol/L (3.5-5.2 mmol/L). Hypercalcemia investigation revealed intact PTH 19 pg/mL (16-87 pg/mL), 25-OH vitamin D 15.7 ng/mL (>30 ng/mL), and PTH-related peptide (PTHrP) 63.4 pmol/L (<2.3 pmol/L). Workup for hypokalemia yielded aldosterone 5.3 ng/dL (<31 ng/dL), renin 0.6 ng/mL/h (0.5-4 ng/mL/h), and 6:00 a.m. cortisol 82 µg/dL (6.7-22.6 µg/dL) with ACTH 147 pg/mL (no ref. range). High-dose Dexamethasone suppression testing suggested ACTH-dependent ectopic hypercortisolism. Contrast-enhanced CT findings included masses in the liver and right renal pelvis, a heterogeneous enlarged mass in the region of the prostate invading the bladder, bilateral adrenal thickening, and lytic lesions in the pelvis and spine. Liver biopsy identified epithelioid malignancy with Ki proliferation index 98% and immunohistochemical staining positive for synaptophysin and neuron-specific enolase, compatible with high-grade small cell carcinoma. Staining for ACTH was negative; no stain for CRH was available. Two weeks after chemotherapy, 6:00 a.m. cortisol normalized and CT scans showed universal improvement.
Conclusion:
Extensive literature details paraneoplastic syndromes associated with SCC, but we report the first case of EPSCC diagnosed due to onset of dual paraneoplastic syndromes.
Salvage mastectomy for local recurrence and second ipsilateral autologous breast reconstruction using a perforator flap from a different donor site
Authors: Yuki Homma, Toshihiko Satake, Kazutaka Narui, Yoshihiko Tamanoi, Mayu Muto, Takako Komiya, Shinji Kobayashi, Takashi Ishikawa, Jiro Maegawa
Journal: Case Reports Plast Surg Hand Surg (2018)
Keywords: autologous breast reconstruction, diep flap, s-gap flap, free flap, local recurrence, perforator flap, salvage mastectomy
MeSH terms: Case Reports

Only one case of second ipsilateral autologous reconstruction for the same breast that had previously undergone reconstruction has been reported. Here we present a patient who underwent breast reconstruction twice using free flap from different donor sites, using a buttock after a local recurrence following the previous reconstruction with a lower abdomen.
A Rare Case of Gemcitabine-Induced Pulmonary Hypertension
Authors: Janice Shen, Su Yun Chung, Elham Azimi-Nekoo, Jyothi Jose, Muhammad W Saif
Journal: Pulm Res Respir Med (2019)
Keywords: cholangiocarcinoma, gemcitabine, pulmonary hypertension

Context:
Gemcitabine is the backbone of systemic treatment of locally advanced and metastatic intrahepatic cholangiocarcinoma. In recent literature, gemcitabine has been linked to various pulmonary side effects.
Case report:
We report a case of an 82-year-old male who developed acute pulmonary hypertension after receiving one cycle of gemcitabine for metastatic cholangiocarcinoma. His symptoms began with fatigue associated with shortness of breath and cough that worsened despite dose reduction. He developed new onset bilateral pulmonary effusions and an echocardiogram revealed findings consistent with pulmonary hypertension. A computed tomography (CT) angiogram was negative for pulmonary thromboembolism. Although he was promptly treated with diuretics and steroids, the patient could not tolerate any further therapy.
Conclusion:
Gemcitabine-induced pulmonary hypertension is rare and can be challenging to diagnose, as it remains a diagnosis of exclusion. However, physicians should be vigilant of new pulmonary symptoms, as delayed treatment can cause significant patient morbidity and mortality.
Circulating Tumor DNA Detection in the Management of Anti-EGFR Therapy for Advanced Colorectal Cancer
Authors: Franciele H Knebel, Fabiana Bettoni, Leonardo G da Fonseca, Anamaria A Camargo, Jorge Sabbaga, Denis L Jardim
Journal: Front Oncol (2019)
Keywords: anti-egfr therapy, circulating tumor dna, colorectal cancer, drug resistance, liquid biopsies, monitoring
MeSH terms: Case Reports

Background: Anti-EGFR antibodies are a standard care for advanced KRAS-wild type colorectal cancers. Circulating tumor DNA (ctDNA) monitoring during therapy can detect emergence of KRAS mutant clones and early resistance to therapy. Case Presentation: We describe a 61-years-old man presenting a metastatic and recurrent rectal cancer treated with different chemotherapy regimens. His tumor was KRAS wild-type based on tissue analysis and he was treated sequentially with cetuximab-based chemotherapy, chemotherapy alone and panitumumab-based chemotherapy. We performed sequential analysis of ctDNA using droplet digital PCR (ddPCR) and a commercial assay designed for the detection of frequent KRAS mutations during his clinical follow-up. Prior to the first cetuximab-based chemotherapy ctDNA analysis demonstrated an absence of KRAS mutations. Emergence of KRAS mutations in ctDNA occurred ~3 months after treatment initiation and preceded clinical and imaging progression in about 2 months. Fractional abundance of KRAS mutation rapidly increased to 70.7% immediately before a chemotherapy alone regimen was initiated. Interestingly, KRAS mutation abundance decreased significantly during the first two months of chemotherapy, reaching a fractional abundance of 3.0%, despite minimal clinical benefit with this therapy. Re-challenge with a different anti-EGFR antibody was attempted as later line, but high levels of KRAS mutations in ctDNA before therapy correlated with an absence of clinical benefit. Conclusions: The monitoring of resistance mutations in KRAS using ctDNA during the treatment of KRAS wild-type advanced colorectal cancers can detect the emergence of resistant clones prior to clinical progression. Dynamics of resistant clones may alter during periods on and off anti-EGFR antibodies, detecting window of opportunities for a re-challenge with these therapies.
Treatment of Esophageal Hematoma After Left Atrial Appendage Occlusion: A Case Report
Authors: Chaodi Cheng, Yang Zhou, Yanjiang Wang, Liang Shi, Ying Tian, Xingpeng Liu
Journal: Front Cardiovasc Med (2022)
Keywords: atrial fibrillation, complication, esophageal hematoma, left atrial appendage occlusion, transesophageal echocardiography
MeSH terms: Case Reports

Left atrial appendage occlusion (LAAO) is an alternative to oral anticoagulation therapy in patients with atrial fibrillation who are at high risk for bleeding and thromboembolic events. Transesophageal echocardiography (TEE) is the standard modality for intraprocedural imaging during LAAO. We report a rare case of extensive submucosal esophageal hematoma that developed after a TEE-guided LAAO procedure. The cause, management, and prevention of this complication are explored in depth in this report.
Inflammatory Myeloradiculitis Secondary to Pembrolizumab: A Case Report and Literature Review
Authors: M L Vickers, B Seidl, K Bigby, B Chern, L Eriksson, G Hartnett, C Gericke, R Chew
Journal: Case Rep Oncol Med (2020)
MeSH terms: Case Reports

Immune checkpoint inhibitors are the most important new medications in oncology and include inhibitors of programmed cell death protein-1 (PD-1) such as Pembrolizumab, Nivolumab, and Cemiplimab. These anticancer agents prevent tumour immune evasion and have been associated with a range of immune-related adverse events (irAEs) including those involving the nervous system. In this case report and literature review, we present the first case of inflammatory myeloradiculitis secondary to Pembrolizumab. We also summarise the characteristics, treatment, and outcomes of other cases reported in the literature which include a component of myelitis. Finally, we make general recommendations on management.
COL1A1 novel splice variant in osteogenesis imperfecta and splicing variants review: A case report
Authors: Michella Dirani, Victor D Cuenca, Vanessa I Romero
Journal: Front Surg (2022)
Keywords: col1a1, ecuador, collagen, osteogenesis imperfecta, splicing
MeSH terms: Case Reports

Background:
Osteogenesis imperfecta (OI) is a rare heterogeneous genetic disorder commonly autosomal dominant with variants in the COL1A1 and COL1A2 genes. It is characterized by bone fragility and deformity, recurrent fractures, blue sclera, dentinogenesis imperfecta, short stature, and progressive deafness.
Case presentation:
We present a novel splicing mutation in the COL1A1 gene (c.2398-1G > C) in a 6-year-old Ecuadorian girl with fractures after light pressure and blue sclera. We identified the pathogenic variant, performed a literature review of splice variants, and recognized their location in the COL1A1 functional domains.
Conclusion:
We describe the first clinical description of a patient with OI type 1 caused by a splice variant in intron 34 of COL1A1 gene and identify that most of them are localized in the triple-helical region domain. We suggest that the splice variant in signal peptide, von Willebrand factor type C, and nonhelical regions maintain their functionality or that individuals affected with severe cases die early in development and are not reported.
Development of Multiple Myeloma of the IgA Type in a Patient with Cold Agglutinin Disease: Transformation or Coincidence?
Authors: Øystein Sefland, Ulla Randen, Sigbjørn Berentsen
Journal: Case Rep Hematol (2019)
MeSH terms: Case Reports

Cold agglutinin disease (CAD) is an autoimmune hemolytic anemia and a distinct, clonal bone marrow lymphoproliferative disorder, characterized in most cases by a monoclonal IgMκ serum protein. We describe a CAD patient presenting with a monoclonal immunoglobulin of the IgAλ class. For years, she remained asymptomatic apart from the hemolytic anemia until eventually she developed multiple myeloma (MM) of the IgAλ phenotype. Prior to the development of MM, her hemolytic anemia responded to rituximab monotherapy. After she was diagnosed with MM, both conditions responded well to bortezomib-based therapy. We performed further investigations to determine whether her MM represented a progression/transformation of CAD or an independent disease. Flow cytometry and biopsy findings convincingly confirmed two unrelated clonal B-cell disorders. On this background, we also discuss previously published reports on cold agglutinin activity in patients with IgA gammopathy. In conclusion, cold agglutinins of the IgA class do probably not result in CAD. If a monoclonal immunoglobulin other than IgMκ is found in a patient with CAD, the coexistence of two unrelated B-cell clones should be suspected.
Case Report: Managing a giant, high-grade carotid body tumor in a resource-limited setting
Authors: Sunil Munakomi, Samrita Chaudhary, Iype Cherian
Journal: F1000Res (2017)
Keywords: carotid body, giant, tumor

Herein we report the management of a giant, high-grade and vascular carotid body tumor in a young woman. She presented with slowly progressive neck swelling. Vascular imaging revealed a left-sided, high-grade giant carotid body tumor (> 8cm). The tumor was completely excised by caudocranial subadventitial dissection. Histology of the tumor revealed a characteristic Zellballen pattern of the lesion, suggestive of a paraganglioma. The patient made an uneventful recovery. We also discuss newer insights regarding the management of such highly vascular lesions.
The First Autopsy Case of Fatal Acute Cardiac Failure after Administration of Carfilzomib in a Patient with Multiple Myeloma
Authors: Teruhito Takakuwa, Ippei Otomaru, Taku Araki, Akiko Miura, Yotaro Fujitani, Yasuhide Mochizuki, Yoshimi Miyagi, Hideto Senzaki, Ryosuke Yamamura
Journal: Case Rep Hematol (2019)
MeSH terms: Case Reports

Carfilzomib (CFZ) improves progression-free survival for patients with relapsed or refractory multiple myeloma (MM) but has shown higher frequency of cardiovascular adverse events (CVAEs) than other proteasome inhibitors. We report the first autopsy case of acute death from cardiac failure shortly after administration of carfilzomib. A 74-year-old female was diagnosed with IgA MM after a 2-year period of smoldering MM. She was refractory to both bortezomib plus dexamethasone and lenalidomide plus dexamethasone therapies, so she subsequently received CFZ in combination with lenalidomide and dexamethasone. The day after the start of the therapy, she complained of severe dyspnea with a significant decline in left ventricular ejection fraction. Her acute cardiac failure rapidly progressed, and she died on day 7 of the start of CFZ. The autopsy showed invasion of inflammatory cells between the myocardial cells and very little myocardial necrosis. There was no obvious thrombus in the coronary artery of the heart, and no infarction or amyloid deposition was observed in the myocardium. Pathological findings of hypersensitivity myocarditis, a drug-induced cardiomyopathy, appeared to agree with this case except for absence of an eosinophilic infiltration of the myocardium. A CFZ-induced CVAE is generally considered reversible. However, rapidly progressing fatal heart failure like in our case is rare. To characterize CFZ-associated CVAE, further case collection is needed.
Unfractionated Heparin in SARS-CoV-2 Pneumonia: Ischemic Stroke Case Report
Authors: Aslan Efendizade, Adam A Dmytriw, Kevin Hewitt, Gwynivere A Davies
Journal: Front Neurol (2020)
Keywords: covid-19, anticoagulation, heparin, stroke, thromboembolism
MeSH terms: Case Reports

Thromboembolism is a known phenomenon in patients with Coronavirus disease 2019 (COVID-19). Recent investigations have revealed that a significant proportion of those hospitalized with severe COVID-19 demonstrate clinical and laboratory markers compatible with hypercoagulability, which is differentiated from disseminated intravascular coagulation (DIC), termed COVID-associated coagulopathy. Additionally, there is increasing concern for development of acute ischemic stroke because of this hypercoagulable state. We present a patient with COVID-19 pneumonia who was managed with unfractionated heparin (UFH) infusion and developed a large ischemic infarct shortly after cessation of the infusion. In retrospect, the patient's coagulation parameters were consistent with overt DIC, although some of these parameters are easily masked by the effects of UFH. These findings emphasize the importance of anticoagulation as well as its careful discontinuation, as failure to do so may result in a significant thromboembolic event.