OpenMed/multicare-articles huggingface dataset:
Attack of the Clones: A Patient With Untreated Aplastic Anemia Presenting With Classical Paroxysmal Nocturnal Hemoglobinuria
Authors: Jose Rayas, Mariam Hassan, Rivers A Hock, Bryan Nguyen, Swathi Prakash, Adrian Rojas Murguia, Ilma Vahora, Javier Corral, Osvaldo Padilla, Fatma Dihowm
Journal: Cureus (2023)
Keywords: acquired aplastic anemia, bone marrow failure, immune hemolytic anemia, morbidity and mortality, paroxysmal nocturnal hemoglobinuria (pnh)
MeSH terms: Case Reports

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired X-linked, clonal hematopoietic stem cell disease. Patients with PNH may complain of vague symptomatology that contributes to the challenge of its diagnosis. This is especially true in the clinical context of a coinciding hematologic disorder. Aplastic anemia (AA) is an additional immune-mediated illness that results in the destruction of hematopoietic precursors and pancytopenia. The authors encourage screening for PNH clones in patients initially diagnosed with AA, treating underlying hematologic disease to prevent clonal expansion, and further research to investigate the effectiveness of eculizumab in an unusual "classical" PNH secondary to AA with hypercellular bone marrow.
Ameliorating effect of erythropoietin in a severe case of COVID-19: case report
Authors: Mais Mamoon Maufak, Gulfaraz Khan, Ani Purushothaman, Fiaz Ahamed, Mahir Khalil Jallo, Muhammad Rizwan, Sangeeth Kumar, Ahmed Almansouri, Taleb Mohamed Almansoori, Megha Thottappillil Ouseppachen
Journal: Pan Afr Med J (2022)
Keywords: covid-19, severe acute respiratory syndrome coronavirus-2, acute respiratory distress syndrome, case report, erythropoietin
MeSH terms: Antiviral Agents / therapeutic use, COVID-19 / epidemiology, Erythropoietin / therapeutic use, Case Reports, Humans, SARS-CoV-2, Antiviral Agents, Erythropoietin

The COVID-19 pandemic is arguably one of the greatest public health crises since the 1918 influenza pandemic. Although several vaccines have been approved and rolled out, effective antiviral treatment options are very limited. Here, we present a case of severe COVID-19 that failed to respond to the standard interventions and continued to deteriorate. On day 22 of his illness, after informed consent, the patient was administered 4000IU of erythropoietin (EPO) subcutaneously, in the hope of improving his O2 saturation. Positive response was observed in the patient within 24 hours. This prompted us to continued EPO treatment for a total of 42 days until full recovery and discharge. Our findings warrant further studies to ascertain the use of EPO in severe cases COVID-19.
Recurrent diffuse lung disease due to surfactant protein C deficiency
Authors: Brigitte Kazzi, David Lederer, Emilio Arteaga-Solis, Anjali Saqi, Wendy K Chung
Journal: Respir Med Case Rep (2018)
Keywords: childhood diffuse lung disease, hydroxychloroquine, surfactant protein c deficiency
MeSH terms: Case Reports

Surfactant protein C (SP-C) deficiency causes diffuse lung disease with variable prognosis and severity that usually presents in infancy. We present the case of a patient with diffuse lung disease who was successfully treated with hydroxychloroquine and steroids in infancy, who presented again as a young adult with respiratory symptoms. Exome sequencing identified a novel de novo SFTPC mutation (c.397A > C p.S133R). Mutated SP-C accumulates and leads to injury of alveolar type II cells, which normally replenish alveolar type I cells after injury. This may explain the symptom recurrence after lung injury in young adulthood. Although hydroxychloroquine has been hypothesized to interfere with mutated SP-C accumulation, data on long term outcome remains limited.
Random-start controlled ovarian stimulation for emergency fertility preservation in a patient with myelodysplastic syndrome: a case report
Authors: H Cai, H Shen
Journal: Braz J Med Biol Res (2016)
MeSH terms: Fertility Preservation / methods, Myelodysplastic Syndromes / physiopathology, Ovulation Induction / methods, Case Reports, Adolescent, Cryopreservation / methods, Female, Humans, Menstrual Cycle / physiology, Oocyte Retrieval / methods, Oocytes / physiology, Reproducibility of Results, Treatment Outcome

This study reports a case of a gonadotropin-releasing hormone agonist trigger in a young female with myelodysplastic syndrome (MDS) who underwent fertility preservation using random-start controlled ovarian stimulation. This method involves the stimulation of the ovary regardless of a patient's menstrual-cycle phase. A review of the related literature is also provided. A 17-year-old patient was diagnosed with MDS and required initiation of peripheral blood stem cell transplantation within a maximum of 3 weeks and was in the luteal phase of the menstrual cycle when the possibility of attempting preservation of fertility was presented to her. She opted for a random-start controlled ovarian stimulation with gonadotropins. With successful hemorrhagic prophylaxis, 17 oocytes were retrieved including 10 mature and 7 immature oocytes. Of the immature oocytes, 3 were successfully matured in vitro and a vitrification protocol was used to freeze the 13 mature oocytes.
Medullary Thyroid Carcinoma and Papillary Thyroid Carcinoma in the Same Patient as a Collision Tumour
Authors: Oguz Dikbas, Aslihan Alpaslan Duman, Gulname Findik Guvendi
Journal: Case Rep Endocrinol (2019)
MeSH terms: Case Reports

Aim:
Papillary thyroid carcinoma (PTC) and medullary thyroid carcinoma (MTC) are two different types of thyroid carcinoma with significant different clinical and histological findings. Their coexistence in the same patient is a very rare event which demands different clinical approach.
Case report:
We report a case with concurrent MTC and PTC in the same thyroid having characteristics of a collision tumour. A 35-year-old patient has admitted to endocrinology outpatient department with complaint of pain in the neck. Physical examination revealed 2 cm nodule on the thyroid right lobe. Serum thyroid hormone levels were within normal range. Ultrasonography revealed a 23x15 mm hypoechoic nodule with micro calcifications and cystic areas on the right lobe. Preoperative serum calcitonin was 2 pg/ml (0-11.5). PTK 1.7 cm and MTK 1.8 cm in the same thyroid with healthy tissue in between them were detected on pathological examination. RET gene mutation was negative. She has been followed up to now without any evidence of disease.
Conclusion:
This is a collision tumour since lesions with features of MTC and PTC were detected in two different locations and separated by normal thyroid tissue. Germline point mutation of the RET gene had a potential role in the development of both MTC and PTC. On the other side, familial concurrent MTC and PTC without RET gene mutation was also published. Both RET and BRAF genes had a role in the development of the medullary and papillary collision tumours. We do not know the presence of BRAF gene mutation in this case report yet.
Hepatic hemangiomas with arterioportal shunt complicated a congestive heart failure: a case report
Authors: Sara Aminou, Nadia Mebrouk, Loubna Chtouki, Abdelali Bentahila
Journal: Pan Afr Med J (2023)
Keywords: hepatic hemangioma, arteriovenous shunt, case report, propranolol
MeSH terms: Cardiovascular Abnormalities / complications, Heart Failure / etiology, Hemangioma, Liver Neoplasms / complications, Skin Neoplasms, Case Reports, Humans, Infant, Prognosis

Diffuse miliary haemangiomatosis is a rare condition representing 2.5-3% of cases of cutaneous infantile haemangiomas. It is an efflorescence of five or more infantile cutaneous haemangiomas associated with visceral involvement, most commonly liver involvement. The severity is mainly related to the risk of congestive heart failure. These vascular anomalies are characterised by their clinical, evolutionary and structural polymorphism. The prognosis, whether aesthetic, psychological, functional or vital, is very heterogeneous, which conditions their frequently multidisciplinary management. The objective of this work is to report a complicated form of miliary hemangiomatosis illustrating clinical, radiological and biological particularities.
Primary Squamous Cell Carcinoma of the Thyroid Gland
Authors: Mohd-Irman-Shah Ibrahim, Yusri-Rahimi Jusoh, Nurul-Nadhihah Adam, Irfan Mohamad
Journal: Iran J Otorhinolaryngol (2018)
Keywords: squamous cell carcinoma, therapeutics, thyroid gland
MeSH terms: Case Reports

Introduction:
Primary squamous cell carcinoma (SCC) of the thyroid gland is one of the rarest types of all reported thyroid malignancies worldwide. It is very aggressive in nature and carries a poor prognosis. The surgical resection with adjuvant radiotherapy and chemotherapy is the most recommended treatment despite its poor reported outcome.
Case report:
A 74-year-old woman presented with a rapidly progressive neck swelling, with hoarseness and compressive symptoms. Physical examination revealed a multilobulated firm thyroid mass with unilateral vocal cord palsy. Histopathological findings confirmed the diagnosis of SCC while radiological investigations and panendoscopy findings ruled out the possibility of other primary tumors. A surgical intervention was performed; however, the patient eventually succumbed to death prior to undergoing an oncological treatment.
Conclusion:
With no standard consensus to guide the management plan, SCC of the thyroid gland presents a great challenge for the managing team to come up with the best treatment option, due to its unfavorable rate of survival.
Traumatic retrosternal hematoma leading to extra-pericardial cardiac tamponade-Case report
Authors: Rami Issam Arabi, Abdullah Aljudaibi, Abdullah Abdulaziz Althumali, Badr Saeed Rajb, Rawad Daniel Arja
Journal: Int J Surg Case Rep (2019)
Keywords: hematoma, tamponade, trauma

Introduction:
Cardiac tamponade typically results from fluid or gas collection in the pericardial space leading to impairment in the cardiac function.
Presentation of case:
A 34 years old male patient presented to the ER after a fall from height. X-rays were done which showed no hemothorax or pneumothorax and multiple stable pelvic fractures. Computed tomography (CT) scan for trauma was done after stabilizing the patient and showed sternal fracture with a huge retrosternal hematoma. The patient was intubated immediately, and an Echocardiogram was ordered along with preparation to go to the operation room urgently due to high suspicion of a rare case of cardiac tamponade. but the patient had cardiac arrest and couldn't be revived despite the CPR effort.
Discussion:
This is a very unusual presentation of cardiac tamponade, mediastinal hematoma leading to extra pericardial tamponade. CT scan is an effective method to diagnose extra pericardial tamponade. In addition, to the high clinical suspicion is required. The sole treatment of mediastinal hematoma is an urgent evacuation.
Conclusion:
A careful assessment with high clinical suspicion along with CT Scan is the best way to diagnose extra pericardial tamponade cause by sternal fracture.
A case of incorrect evaluation of intestinal patency by early dissolution of a patency capsule
Authors: Teppei Omori, Toshifumi Hara, Shun Murasugi, Harutaka Kambayashi, Yu Sasaki, Miki Koroku, Maria Yonezawa, Keiichi Morishita, Shinichi Nakamura, Katsutoshi Tokushige
Journal: DEN Open (2023)
Keywords: capsule endoscopy, patency capsule, radiography, small intestine, stenosis
MeSH terms: Case Reports

A 60-year-old man presented with a suspected small intestinal tumor on positron-emission tomography-computed tomography. Small bowel capsule endoscopy (SBCE) was planned for close examination of the small intestine. To avoid retention of the SBCE due to strictures, a patency capsule (PC) was first used to evaluate patency. However, PC discharge was not visually confirmed during the 24-h period. No obvious PC was observed on plain abdominal radiography performed in the standing position. The patient underwent SBCE, assuming that the PC had been shed inconspicuously. SBCE revealed a neoplastic lesion with stenosis at a site thought to be the upper small intestine and remained stagnant at the same site for the duration of the battery. In addition, in the SBCE image, a PC shell was captured in the intestinal tract on the oral side of the stenosis. When the pre-SBCE plain abdominal radiograph was enlarged to confirm the details, PC was observed in the lateral and decubitus views as a dissolved shell only. To the best of our knowledge, no previous report has described the complete dissolution of a PC leaving only its shell during a 30-hour patency evaluation period. This case illustrates that, in the absence of visual confirmation of a PC discharge, PC may have remained in the body due to premature dissolution. Additional examinations or plain X-ray imaging should be performed to confirm this, with no preconceived notions that the PC will not dissolve within 30 hours of administration.
Iatrogenic Compartment Syndrome Secondary to Burn Dressing in a 2-Year-Old Child
Authors: Carlos Delgado-Miguel, Antonio Jesus Muñoz-Serrano, Miriam Miguel-Ferrero, Karla Estefanía Rodríguez, María Velayos, Paloma Triana, Mercedes Diaz, Juan Carlos López-Gutiérrez
Journal: European J Pediatr Surg Rep (2019)
Keywords: burns, children, compartment syndrome, compressive dressing, iatrogenic
MeSH terms: Case Reports

We report a severe case of compartment syndrome due to a compressive burn dressing. An otherwise healthy 2-year-old girl presented at her local health center with a superficial partial-thickness thermal burn on the dorsum of the mid phalanx of the second finger of her right hand. A compressive dressing was applied solely to the affected finger. Forty-eight hours afterward, the patient presented in the emergency room with severe pain of the finger. After removal of the dressing, a circular constrictive eschar was observed at the base of the finger, secondary to ischemia due to the compressive dressing. Emergent lateral escharotomies were performed, with immediate recovery of distal perfusion. One week afterward, the patient underwent surgical debridement of the burn on the dorsum of her finger and escharectomy of the ischemic eschar at the base. The lesions were covered with partial-thickness skin grafts. This case shows that acute compartment syndrome can lead to severe sequelae, such as the loss of an extremity or body segment. We must take utmost care in all our actions to avoid any (negligent) act that could lead to severe or permanent damage to our patients.
Case Report: A Case of Moyamoya Syndrome Associated With Multiple Endocrine Neoplasia Type 2A
Authors: Fumihiro Matano, Yasuo Murai, Atsushi Watanabe, Kazutaka Shirokane, Takehito Igarashi, Kazuo Shimizu, Takashi Shimada, Akio Morita
Journal: Front Endocrinol (Lausanne) (2021)
Keywords: men2a, ret gene, rnf-213, moyamoya syndrome, pheochromocytoma
MeSH terms: Adenosine Triphosphatases / genetics, Adrenal Gland Neoplasms / physiopathology, Carcinoma, Neuroendocrine / physiopathology, Moyamoya Disease / pathology, Multiple Endocrine Neoplasia Type 2a / complications, Mutation, Pheochromocytoma / physiopathology, Thyroid Neoplasms / physiopathology, Ubiquitin-Protein Ligases / genetics, Case Reports, Research Support, Non-U.S. Gov't, Female, Humans, Male, Middle Aged, Moyamoya Disease / etiology, Moyamoya Disease / metabolism, Pedigree, RNF213 protein, human, Ubiquitin-Protein Ligases, Adenosine Triphosphatases, Thyroid cancer, medullary

To the best of our knowledge, we report a case of MEN2A complicated by moyamoya syndrome. A 52-year-old woman presented with vertigo. Magnetic resonance angiography (MRA) revealed bilateral supraclinoid stenosis of the internal carotid artery and abnormal moyamoya-like vessels around the basal ganglia. She had a heterozygous variant of RNF213, which is the susceptibility gene for moyamoya disease. She had also previously received diagnoses of medullary thyroid carcinoma (MTC) at age 23 and left-sided pheochromocytoma (PHEO) at age 41. Genetic testing revealed heterozygosity for a mutation at codon 634 in exon 11 (TGC-TTC mutation; p.Cys634Phe) of the Ret gene. Intracranial vascular stenosis may have been caused by a genetic mutation of RNF213 and hypersecretion of catecholamines by MEN2A. Physicians should recognize that MEN2A can be present with moyamoya syndrome.
Intraplacental Choriocarcinoma: Rare or Underdiagnosed? Report of 2 Cases Diagnosed after an Incomplete Miscarriage and a Preterm Spontaneous Vaginal Delivery
Authors: Rita Ferraz Caldas, Paula Oliveira, Cátia Rodrigues, Inês Reis, Horácio Scigliano, Rosete Nogueira, Célia Araújo, Soledade Ferreira
Journal: Case Rep Med (2017)
MeSH terms: Case Reports

Intraplacental choriocarcinoma is a rare malignant tumor diagnosed after an abortion, an ectopic pregnancy, or a term or preterm pregnancy or following the diagnosis of a hydatidiform mole. During pregnancy, it may be more common than reported, as most patients are asymptomatic and placental choriocarcinomas are usually inconspicuous macroscopically and are often mistaken for an infarct. Based upon a case study methodology, we describe 2 cases of intraplacental choriocarcinoma: the first case was identified in the product of a uterine curettage following an incomplete miscarriage and the second in one of the placentas of a bichorionic twin pregnancy. Maternal investigation did not reveal evidence of metastatic disease and neither did the infants' one in the second case. The two cases underwent maternal surveillance with serum hCG and remained disease-free until the present. In conclusion, intraplacental choriocarcinoma is easily underdiagnosed but with current treatment, even in the presence of metastasis, the prognosis is excellent. A routine microscopic examination of all the placentas and products of miscarriage can increase the real incidence of this entity and consequently improve its management.
Dancing to Metallica and Dora: Case Study of a 19-Month-Old
Authors: Laura K Cirelli, Sandra E Trehub
Journal: Front Psychol (2019)
Keywords: dance, development, infancy, movement, music, rhythm
MeSH terms: Case Reports

Rhythmic movement to music, whether deliberate (e.g., dancing) or inadvertent (e.g., foot-tapping), is ubiquitous. Although parents commonly report that infants move rhythmically to music, especially to familiar music in familiar environments, there has been little systematic study of this behavior. As a preliminary exploration of infants' movement to music in their home environment, we studied V, an infant who began moving rhythmically to music at 6 months of age. Our primary goal was to generate testable hypotheses about movement to music in infancy. Across nine sessions, beginning when V was almost 19 months of age and ending 8 weeks later, she was video-recorded by her mother during the presentation of 60-s excerpts from two familiar and two unfamiliar songs presented at three tempos-the original song tempo as well as faster and slower versions. V exhibited a number of repeated dance movements such as head-bobbing, arm-pumping, torso twists, and bouncing. She danced most to Metallica's Now that We're Dead, a recording that her father played daily in V's presence, often dancing with her while it played. Its high pulse clarity, in conjunction with familiarity, may have increased V's propensity to dance, as reflected in lesser dancing to familiar music with low pulse clarity and to unfamiliar music with high pulse clarity. V moved faster to faster music but only for unfamiliar music, perhaps because arousal drove her movement to familiar music. Her movement to music was positively correlated with smiling, highlighting the pleasurable nature of the experience. Rhythmic movement to music may have enhanced her pleasure, and the joy of listening may have promoted her movement. On the basis of behavior observed in this case study, we propose a scaled-up study to obtain definitive evidence about the effects of song familiarity and specific musical features on infant rhythmic movement, the developmental trajectory of dance skills, and the typical range of variation in such skills.
Ameloblastomatous CCOT: A Case Report of a Rare Variant of CCOT with a Review of the Literature on Its Diverse Histopathologic Presentation
Authors: Shailesh Menat, Shylaja Md, Kailash Attur, Kaushal Goyal
Journal: Case Rep Dent (2013)

Calcifying odontogenic cyst is considered as a rare lesion and accounts for 1% of jaw cysts. It represents a heterogeneous group of lesions which exhibit a variety of clinicopathologic and behavioral features. It has been categorized as cyst and neoplasm. Even after several classification and subclassification, COC remains an enigma. WHO classification 2005 has reclassified the lesion as calcifying cystic odontogenic tumor (CCOT). Ameloblastomatous COC is a rare variant which is not much described in the literature. This report describes one such case which was large multicystic, involved the coronoid and condylar process of the mandible, and treated by subhemimandibulectomy. The case was recurrence free even after 1 year of followup.
Case report: Cases of narcolepsy misdiagnosed as other psychiatric disorders
Authors: Zhongxia Shen, Yibin Shuai, Shaoqi Mou, Yue Shen, Xinhua Shen, Shengliang Yang
Journal: Front Psychiatry (2022)
Keywords: case report, excessive daytime sleepiness (eds), misdiagnosis, narcolepsy, psychiatric disorder
MeSH terms: Case Reports

Narcolepsy is characterized by uncontrollable excessive daytime sleepiness, paroxysmal cataplexy, sleep paralysis, and hallucinations. It is often misdiagnosed as psychiatric disorders such as depression and schizophrenia, resulting from the overlap in symptoms and a lack of understanding of narcolepsy. In the present study, three cases of narcolepsy misdiagnosed as depression, dissociative disorder, and schizophrenia are presented to emphasize the high occurrence of the misdiagnosis of narcolepsy in clinical practice. The main reasons for this dilemma are attributed to the lack of adequate sleep, medicine, education, as well as specialized professional technicians. A multi-disciplinary team composed of psychiatrists and sleep specialists should be established to deal with this problem.
Cryoglobulinemic membranoproliferative glomerulonephritis associated with mucosa-associated lymphoid tissue lymphoma treated with rituximab
Authors: Austin Y Ha, Nicole Noronha, Patrick Gleason, Jonathan N Winkler, James N Butera, Kammi J Henriksen, Susie L Hu
Journal: Clin Nephrol Case Stud (2016)
Keywords: cryoglobulinemia, membranoproliferative glomerulonephritis, mucosa-associated lymphoid tissue lymphoma, rituximab
MeSH terms: Case Reports

Cryoglobulinemia and mucosa-associated lymphoid tissue (MALT) lymphoma are diseases characterized by B-cell dysregulation and overproduction of antibodies. Vasculitis and cutaneous manifestations are common, but renal involvement is rare. A 65-year-old woman with type 1 cryoglobulinemia and MALT lymphomas of the right lacrimal and parotid glands successfully treated by excision and chemoradiotherapy, presented with dyspnea on exertion, edema, and hematuria. Renal biopsy findings revealed type 1 cryoglobulinemic glomerulonephritis. She underwent treatment with high-dose oral prednisone and intravenous rituximab with subsequent return of creatinine to baseline levels. To our knowledge, this is the first report of a patient in whom type 1 cryoglobulinemia, multiple MALT lymphomas, and MPGN with IgM cryoglobulin deposits coexist. Evidence for rituximab is sparse with widely varying protocols and mixed results. There is a need for high quality evidence in the treatment of these conditions.