OpenMed/multicare-articles huggingface dataset:
RET fusion mutation detected by re-biopsy 7 years after initial cytotoxic chemotherapy: A case report
Authors: Kei Morikawa, Hiroshi Handa, Junko Ueno, Hajime Tsuruoka, Takeo Inoue, Naoki Shimada, Junki Koike, Seiji Nakamura, Yoshiharu Sato, Masamichi Mineshita
Journal: Front Oncol (2022)
Keywords: ret fusion lung cancer, ret mutation detected by re-biopsy case report, gene mutation, re-biopsy, selpercatinib
MeSH terms: Case Reports

Personalized medicine using molecular-targeted drugs to achieve better therapeutic response and long-term prognosis is common practice for lung cancer treatment. However, in cases before gene batch tests were available, medical treatment continued without the detection of rare mutations. We report a sixty-seven-old year man diagnosed with adenocarcinoma T1cN3M1a, stage IVA. Initial screening performed 7 years earlier using EGFR mutation and ALK immunohistochemical tests were negative. Although first-line cytotoxic combination chemotherapy was remarkably effective, a gradual regression of the primary lesion was noted. After a recent bronchoscopic re-biopsy, RET fusion was detected by gene panel test. In addition, we were able to confirm RET from FFPE specimens obtained from 7-year-old pleural effusion cell blocks. Subsequent administration of the molecular-targeted drug selpercatinib, was highly effective for the primary lesion and all metastatic lesions including brain metastases. We describe a case of RET fusion-positive lung cancer where molecular targeted therapy and cytotoxic drug showed a drastic response and long-term therapy was well maintained. Next generation sequencing was able to correctly diagnose RET fusion mutation using re-biopsy specimen after going undiagnosed for 7 years.
Surgical retrieval of a swallowed denture in a schizophrenic patient: a case report
Authors: Johannes Dörner, Herbert Spelter, Hubert Zirngibl, Peter C Ambe
Journal: Patient Saf Surg (2017)
MeSH terms: Case Reports

Background:
Accidental foreign body ingestion is a common phenomenon in children between 6 months to 6 years of age. In adults, foreign body ingestion is commonly observed in the geriatric population and in patients with psychiatric disorders. Over 80% of ingested foreign bodies pass uneventfully through the intestinal tract. Endoscopic retrieval is needed in about 20% while surgical intervention is indicated in less than 1%. Herein we report an extremely rare case of esophagocutaneous fistula following operative retrival of an impacted denture in the esophagus with spontaneous healing within 3 weeks. A similar case to the best of our knowledge has so far not been reported previously.
Case presentation:
A case of accidental ingestion of a dental prosthesis in a 35-year old schizophrenic patient is presented. The patient was referred to our department after accidentally swallowing one of his dental prosthesis. Surgical retrieval was indicated after two unsuccessful endoscopic retrieval attempts. The denture was retrieved following a longitudinal incision of the esophagus via a left cervical approach. The postoperative course was complicated by a clinically suspected esophagocutaneous fistula which was managed conservatively via nothing per os with enteral feeding via a nasogastric tube. Secretion ceased 3 weeks later and a fistula could not be found on contrast enhanced radiographic examination with gastrographin®.
Conclusion:
Esophagocutaneous fistula represents a rare but serious complication following foreign body ingestion. An interdisciplinary management including an early surgical consultation should be considered in patients with foreign body impaction in the esophagus following failure of endoscopic retrieval.
Cytomegalovirus enterocolitis in a patient with dihydropyrimidine dehydrogenase deficiency after capecitabine treatment: A case report
Authors: Fumiya Inoue, Takuya Yano, Masahiro Nakahara, Hiroshi Okuda, Hironobu Amano, Shuji Yonehara, Toshio Noriyuki
Journal: Int J Surg Case Rep (2019)
Keywords: 5-fluorouracil, case report, cytomegalovirus, dpd deficiency

Introduction:
5-Fluorouracil (5-FU) is widely used for cancer treatment. The reduced activity of dihydropyrimidine dehydrogenase (DPD), the key enzyme in 5-FU inactivation, increases a patient's risk of developing severe 5-FU related toxicity. However, screening for DPD deficiency is rarely performed before 5-FU administration.
Presentation of case:
Our patient was a 69-year-old man with rectal cancer (T2N1bM0 stage IIIA) who underwent laparoscopic low anterior resection. He developed severe neutropenia and diarrhea 15 days after the administration of capecitabine for adjuvant chemotherapy, and was admitted to our hospital. Four days after admission, he was transferred to the intensive care unit for sepsis. DPD protein screening revealed DPD deficiency. On day 27, massive melena suddenly appeared. He died of continual bleeding 41 days after admission. Pathological autopsy revealed cytomegalovirus enterocolitis.
Discussion:
The administration of 5-FU to patients with DPD deficiency is lethal. Genotypic and phenotypic assessments are reliable tests for DPD deficiency. A genetic study can effectively screen for DPD deficiency; however, its use has not been established in the national insurance system. Patients with DPD deficiency tend to develop severe neutropenia, so clinicians should pay attention to opportunistic infections such as cytomegalovirus enterocolitis.
Conclusion:
Screening for DPD deficiency is necessary prior to 5-FU administration.
Case Report: The Application of Dupilumab in Atopic Dermatitis Children Complicated With Nephrotic Syndrome
Authors: Ya-Qi Yang, Hao Chen, Li-Ru Qiu, Rong-Fei Zhu
Journal: Front Med (Lausanne) (2022)
Keywords: dupilumab, atopic dermatitis, case report, efficacy and safety, nephrotic syndrome
MeSH terms: Case Reports

Nephrotic syndrome (NS) tends to be more common in patients with history of allergies. Atopic dermatitis (AD) is one of the most common allergic diseases in children. Dupilumab, a dual IL-4 and IL-13 inhibitor, has been widely used to treat AD patients. However, the efficacy and safety of Dupilumab in NS is unclear. We reported two AD patients with NS comorbidities treated with Dupilumab. The outcomes showed the good control of NS and less systemic steroids and/or immunosuppressive agents use during the Dupilumab treatment period, accompanied by significant relief of AD symptoms. We suggest prospective pilot studies and randomized controlled trials could be carried out to validate the efficacy and safety of Dupilumab in the treatment of NS patients.
Physiological Considerations to Support Podium Performance in Para-Athletes
Authors: Cameron M Gee, Melissa A Lacroix, Trent Stellingwerff, Erica H Gavel, Heather M Logan-Sprenger, Christopher R West
Journal: Front Rehabil Sci (2021)
Keywords: adapted sports, disability, exercise, paralympics, physical activity
MeSH terms: Review

The twenty-first century has seen an increase in para-sport participation and the number of research publications on para-sport and the para-athlete. Unfortunately, the majority of publications are case reports/case series or study single impairment types in isolation. Indeed, an overview of how each International Paralympic Committee classifiable impairment type impact athlete physiology, health, and performance has not been forthcoming in the literature. This can make it challenging for practitioners to appropriately support para-athletes and implement evidence-based research in their daily practice. Moreover, the lack of a cohesive publication that reviews all classifiable impairment types through a physiological lens can make it challenging for researchers new to the field to gain an understanding of unique physiological challenges facing para-athletes and to appreciate the nuances of how various impairment types differentially impact para-athlete physiology. As such, the purpose of this review is to (1) summarize how International Paralympic Committee classifiable impairments alter the normal physiological responses to exercise; (2) provide an overview of "quick win" physiological interventions targeted toward specific para-athlete populations; (3) discuss unique practical considerations for the para-sport practitioner; (4) discuss research gaps and highlight areas for future research and innovation, and (5) provide suggestions for knowledge translation and knowledge sharing strategies to advance the field of para-sport research and its application by para-sport practitioners.
Case Report: Effects of multiple myeloma therapy on essential thrombocythemia and vice versa: a case of synchronous dual hematological malignancy
Authors: Nupur Krishnan, Russell Price, Rouslan Kotchetkov
Journal: Front Oncol (2023)
Keywords: calreticulin (calr), essential thrombocythemia, monoclonal protein, multiple myeloma, synchronous dual hematological malignancy
MeSH terms: Case Reports

Background:
Dual hematological malignancies, asynchronous or synchronous, are underrecognized entities and are usually suspected when clinical, hematological, or biochemical features cannot be explained by the primary malignancy alone. We present a case of synchronous dual hematological malignancies (SDHMs), where the patient was diagnosed with symptomatic multiple myeloma (MM) and essential thrombocythemia (ET), when excessive thrombocytosis occurred following initiation of MPV (melphalan-prednisone-bortezomib) antimyeloma therapy.
Case description:
An 86-year-old woman presented to the emergency in May 2016 with confusion, hypercalcemia, and acute kidney injury. She was diagnosed with free light chain (FLC) lambda and Immunoglobulin G (IgG) lambda MM and started MPV (standard of care at that time) treatment with darbopoietin support. At diagnosis, she had normal platelet count since the ET was likely masked by bone marrow suppression due to active MM. After she reached stringent complete remission with no MP detected on serum protein electrophoresis or immunofixation, we noticed that her platelet counts increased to 1,518,000 × 109/L. She was tested positive for mutation in exon 9 of calreticulin (CALR). We concluded that she had concomitant CALR-positive ET. After bone marrow recovery from MM, the ET became clinically apparent. We started hydroxyurea for ET. Treatment for MM with MPV did not affect the course of ET. Presence of concomitant ET did not decrease the efficacy of sequential antimyeloma therapies in our elderly and frail patient.
Conclusion:
The possible mechanism underlying the occurrence of SDHMs is unclear but is likely due to stem cell differentiation defects. SDHMs can be challenging to treat and warrant several considerations. In the absence of clear guidelines on how to manage SDHMs, management decisions depend on several factors including disease aggressiveness, age, frailty, and comorbidities.
Intracystic papillary carcinoma in a male as a rare presentation of breast cancer: a case report and literature review
Authors: Laszlo Romics Jr, M Emmet O'Brien, Norma Relihan, Fionnuala O'Connell, H Paul Redmond
Journal: J Med Case Rep (2009)

Introduction:
The term "intracystic papillary ductal carcinoma in situ" has recently changed and is now more appropriately referred to "intracystic papillary carcinoma". Intracystic papillary carcinoma in men is an extremely rare disease with only a few case presentations published in the literature so far.
Case presentation:
We discuss a case of a 44-year-old Caucasian man with an intracystic papillary carcinoma treated with simple mastectomy, sentinel lymph-node biopsy and contralateral risk-reducing mastectomy. These were followed by adjuvant radiotherapy of the breast.
Conclusion:
Triple assessment (i.e. clinical examination and radiological and histological assessment) with a high level of clinical suspicion is necessary to diagnose intracystic papillary carcinoma in men due to its rarity. Furthermore, genetic testing and risk-reducing mastectomy should also be considered in cases of a strong family history for male breast cancer.
Lower First Permanent Molar with an Additional Root Diagnosis and Management
Authors: Abdullah Mahmoud Riyahi
Journal: Case Rep Dent (2019)
MeSH terms: Case Reports

Three rooted lower first permanent molar represents one of the main anatomical variants which is a treatment challenge of clinicians. This study is aimed at presenting a case of a lower first molar with an additional root that was diagnosed and managed successfully using new techniques in endodontics. Tooth #46 was diagnosed as a necrotic pulp with symptomatic apical periodontitis. Different angle radiographs were obtained, and they clearly showed three roots. The procedure was completed under magnification and illumination using an operating microscope. The access cavity was modified to achieve straight line access for all the canals. Careful step-by-step instrumentation was performed using flexible NiTi rotary files. The canals were irrigated using 6% sodium hypochlorite. Afterwards, three-dimensional obturation was completed using warm vertical compaction. Knowledge of the anatomy and an early diagnosis are required to achieve high-quality root canal treatment.
Case report: Congenital mitral and tricuspid valve insufficiency in a patient with Axenfeld-Rieger syndrome
Authors: Jingwei Feng, Yingjiao Wang, Shiyu Cheng, Zishuo Liu, Ling Lan, Qi Miao, Chaoji Zhang
Journal: Front Cardiovasc Med (2022)
Keywords: axenfeld-rieger syndrome (ars), cardiac malformations, glaucoma, mitral valve insufficiency, tricuspid valve insufficiency
MeSH terms: Case Reports

Axenfeld-Rieger syndrome (ARS) is an autosomal dominant disorder that is primarily due to disruption of the development of neural crest cells. The onset of associated symptoms in both eyes accompanied by extraocular developmental defects is referred to as ARS. Cardiac defects associated with ARS have been reported, but the extent of the cardiac defects has yet to be defined. We report a case of a 17-year-old girl with ARS with typical facial malformations and severe mitral and tricuspid valve insufficiency. The patient was diagnosed with secondary glaucoma detected on ophthalmologic examination. Echocardiography showed severe mitral and tricuspid valve insufficiency. This case provides further evidence of the association of ARS with cardiac malformations and extends the reported range of cardiac malformations in patients with ARS.
Micromelanomas: A Review of Melanomas ≤2 mm and a Case Report
Authors: Sharad P Paul
Journal: Case Rep Oncol Med (2014)

The ABCD acronym used to screen pigmented lesions for melanoma obviously was not designed to contend with melanomas that are under 2 mm in diameter. Previously, views ranged that such small lesions could not be melanomas until a few reports of such "micromelanomas" emerged. The author presents a 2 mm melanoma in situ presenting as an insignificant pigmented lesion in a 60-year-old patient with no previous history of melanoma or multiple nevi-which is usually the norm in cases of small melanoma. This paper reiterates the fact that when it comes to a melanoma, size does not matter. In this paper, the term "micromelanoma" is used by the author to represent melanomas under 2 mm. Dermatoscopy and histopathology findings are discussed in this case, along with a review of small melanomas.
Simultaneous small bowel and colon obstruction due to splenosis. A case report and review of literature
Authors: Alaa El-Kheir, M Abdelnour, Jihad G Boutros
Journal: Int J Surg Case Rep (2019)
Keywords: intestinal obstruction, obstipation, splenic nodules, splenosis

Introduction:
Splenosis, an autotransplantation of splenic tissues in another compartment of the body, is only symptomatic when hematologic diseases have recurred or compression of other adjacent structures have occurred. Therefore, we report a clinical case of a patient with bowel obstruction due to splenosis.
Case presentation:
A patient with a history of splenectomy, presented to the emergency room for abdominal pain and obstipation, suggesting intestinal obstruction which is also seen on CT scan. During laparotomy, multiple splenic nodules were seen on the mesentery of the small bowel and colon, with vascular bridges between them, resulting in bowel obstruction. Resection of splenic nodules was performed. The post-operative course was uneventful and the patient was discharged a week after.
Discussion:
Although very rare, gastrointestinal symptoms may sometimes be described in patients with splenosis. Bleeding or obstruction can occur because of intramural grow or external compression, respectively. Treatment consists of resection of these nodules.
Conclusion:
Splenosis should always be thought in patients with previous splenic rupture and presenting with incidental nodules seen on imaging, with further investigations when symptoms are present.
Surgical Management for a Rare Pedunculated Left Ventricular Apical Lipoma: A Case Report and Review of Literature
Authors: Long Song, Chukwuemeka Daniel Iroegbu, Jinfu Yang, Chengming Fan
Journal: Front Cardiovasc Med (2021)
Keywords: cardiac surgery, computed tomography, left ventricular lipoma, primary cardiac tumors, transthoracic echocardiography
MeSH terms: Case Reports

Cardiac lipomas, though extremely rare, are encapsulated tumors composed primarily of mature fat cells. Despite their benign character, cardiac lipomas can cause life-threatening complications by rapid growth. Cardiac lipomas, which are frequently located in the left ventricle (LV) or right atrium, can originate either from the subendocardium, subpericardium, or the myocardium. They are usually asymptomatic and carry a good prognosis during long-term follow-up; however, published reports show that untreated cardiac lipomas may be fatal when they cause arrhythmic or obstructive symptoms. In addition, several surgical options have been reported to obtain an appropriate operative view following poor visualization, primarily when tumors are located in the LV. Herein, we present a case of a pedunculated LV apical lipoma in a symptomatic patient successfully managed by surgical resection. We also discuss diagnostic modalities in surgical planning and the choice of surgical approach.
Symptomatic Morgagni's hernia in an elderly patient
Authors: Santosh Pv Rai, Madhav Kamath, Ashok Shetty, Suresh Shenoy, Ashvini Kumar
Journal: J Emerg Trauma Shock (2010)
Keywords: hernia, morgagni, obstruction
MeSH terms: Case Reports

Hernia of Morgagni occurs through an anterior defect in the diaphragm. Symptoms of these hernias are attributable to the herniated viscera. In our case, there was partial obstruction due to herniation of the distal stomach and pylorus into the right hemithorax that was reduced surgically through a right thoracolapaorotomy. Of special emphasis are the various modalities used to diagnose this condition in our case.
Pre-hospital intra-osseous freeze dried plasma transfusion: a case report
Authors: Misgav Rottenstreich, Itzik Malka, Elon Glassberg, Oren Schwartz, Bader Tarif
Journal: Disaster Mil Med (2015)
MeSH terms: Case Reports

Background:
Hemorrhage and coagulopathy are among the leading causes of death in combat and are considered the leading causes of preventable deaths. Plasma, in the form of Fresh Frozen Plasma (FFP) is considered a key component in the Damage Control Resuscitation performed within hospitals. Freeze-Dried Plasma (FDP) can be stored at room temperature and therefore is potentially useful in pre-hospital conditions. Our case report join to few cases where FDP was administered at the point of injury. It is also unique as it describes an intra- osseous administration given to pediatric patient.
Case report:
M.S. otherwise healthy 13 year old girl was injured due to gunshots and grenade blast. On the first triage by the IDF medical teams she suffered from: Severe hemorrhagic shock, (Blood pressure could not be measured, Heart rate 163), superficial wounds to her face, (forehead and Rt. Eye), gunshot wounds with active bleeding from her Lt. Arm and her RT. Knee (Mangled Extremity Severity Score (MESS) 8) and open fractures of left elbow and right thigh. A peripheral intravenous catheter was established and 1 g tranexamic acid in 500 ml of Hartman fluid were administered. Due to difficulties in establishing a functioning intra-venous line, an intra-osseous catheter was established and one unit of FDP (250 ml) was given in the field. She was transferred by a military medical team to a regional civilian hospital for further treatment. Upon arrival to the hospital her blood pressure and heart rate were significantly improved. After three weeks of hospitalization M.S. was discharged and she was returned to her homeland.
Conclusion:
We have described the successful use of FDP for pre hospital resuscitation of a 13 year old girl suffering from severe hemorrhagic shock as a result of gunshots and grenade blast. This case report demonstrates that intra-osseous FDP administration for as part pre hospital resuscitation of children has a favorable outcome.
Multiple Myeloma with Foamy Mott Cells
Authors: Karen Nalbandyan, Daniel Benharroch, Benzion Samueli, Michael Kafka, Anna Gourevitch
Journal: Case Rep Hematol (2021)
MeSH terms: Case Reports

Intracytoplasmic assorted vacuoles containing immunoglobulin collections are occasionally seen in multiple myeloma. When abundant, they impart a foamy appearance to the tumor cells, which is a potential source for diagnostic pitfalls. Herein, we report the case of a patient who presented with skeletal pain and CT confirmed lytic lesions. A bone marrow biopsy revealed multiple myeloma with unusual foamy Mott cells. The patient was subsequently treated with four cycles of cyclophosphamide, bortezomib, and dexamethasone induction therapy, followed by 3 cycles of lenalidomide with dexamethasone. A biopsy performed following initial biological and immunomodulatory drugs revealed different morphological and clonal characteristics. These features were modified again, five years later, and again, after two years of close monitoring. Hematopathologists should be aware of this morphologic variant of myeloma as well as for the capacity of clonal characteristics, such as light chain monotype, to fluctuate subsequent to treatment.
Neuroblastoma in the Elderly and SIADH: Case Report and Review of the Literature
Authors: Micaela Pellegrino, Laura Gianotti, Sara Cassibba, Rodolfo Brizio, Alberto Terzi, Giorgio Borretta
Journal: Case Rep Med (2012)

Objective. To report the rare case of a thymic neuroblastoma, in an elderly woman with SIADH at presentation. Methods. Clinical and biochemical data of the patient are presented and the pertinent literature is reviewed. Results. a 79-year-old woman was admitted into our department with worsening asthenia, severe hyponatremia (114.8 mEq/L), low plasma osmolarity (253 mEq/L), and inappropriate urinary sodium concentration (151 mEq/L). CT scan showed an a large solid inhomogeneous mass in the anterior mediastinum. (18)F-FDG-PET/CT showed uptake in the mass. On continuous 3% hypertonic saline infusion, sodium gradually increased without achieving normal values. The patient underwent surgery, followed by full normalization of sodium levels. Tumor cells were positive for neuroendocrine markers. Thymic neuroblastoma with SIADH was diagnosed. Conclusions. Neuroblastoma is an extremely rare tumor in the elderly. Contrary to children and younger adults, neuroblastoma in older adults is typically localized in the anterior mediastinum and is often associated with SIADH. Moreover, it has mainly local aggressiveness in this age group, without metastatic spread; thus radical surgery achieves cure in most cases.