OpenMed/multicare-articles huggingface dataset:
Early-onset breast cancer in a woman with a germline mobile element insertion resulting in BRCA2 disruption: a case report
Authors: Natalie Deuitch, Shao-Tzu Li, Eliza Courtney, Tarryn Shaw, Rebecca Dent, Veronique Tan, Lauren Yackowski, Rebecca Torene, Windy Berkofsky-Fessler, Joanne Ngeow
Journal: Hum Genome Var (2020)
Keywords: cancer genomics, next-generation sequencing

Mobile element insertions (MEIs) contribute to genomic diversity, but they can be responsible for human disease in some cases. Initial clinical testing (BRCA1, BRCA2 and PALB2) in a 40-year-old female with unilateral breast cancer did not detect any pathogenic variants. Subsequent reanalysis for MEIs detected a novel likely pathogenic insertion of the retrotransposon element (RE) c.7894_7895insSVA in BRCA2. This case highlights the importance of bioinformatic pipeline optimization for the detection of MEIs in genes associated with hereditary cancer, as early detection can significantly impact clinical management.
Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome
Authors: Marta Gil-Salvador, Ana Latorre-Pellicer, Cristina Lucia-Campos, María Arnedo, María Teresa Darnaude, Aránzazu Díaz de Bustamante, Rebeca Villares, Carmen Palma Milla, Beatriz Puisac, Antonio Musio, Feliciano J Ramos, Juan Pié
Journal: Front Genet (2022)
Keywords: cornelia de lange syndrome, smc1a, x-linked, case report, deep-sequencing, genetic counseling, parental mosaicism
MeSH terms: Case Reports

Ultimate advances in genetic technologies have permitted the detection of transmitted cases of congenital diseases due to parental gonadosomatic mosaicism. Regarding Cornelia de Lange syndrome (CdLS), up to date, only a few cases are known to follow this inheritance pattern. However, the high prevalence of somatic mosaicism recently reported in this syndrome (∼13%), together with the disparity observed in tissue distribution of the causal variant, suggests that its prevalence in this disorder could be underestimated. Here, we report a new case of parental gonadosomatic mosaicism in SMC1A gene that causes inherited CdLS, in which the mother of the patient carries the causative variant in very low allele frequencies in buccal swab and blood. While the affected child presents with typical CdLS phenotype, his mother does not show any clinical manifestations. As regards SMC1A, the difficulty of clinical identification of carrier females has been already recognized, as well as the gender differences observed in CdLS expressivity when the causal variant is found in this gene. Currently, the use of DNA deep-sequencing techniques is highly recommended when it comes to molecular diagnosis of patients, as well as in co-segregation studies. These enable us to uncover gonadosomatic mosaic events in asymptomatic or oligosymptomatic parents that had been overlooked so far, which might have great implications regarding genetic counseling for recurrence risk.
Technique for Percutaneous Fluoroscopically Guided G-Tube Placement in a High-BMI Patient
Authors: Irwin M Best
Journal: Case Rep Crit Care (2012)
MeSH terms: Case Reports

Enteral feeding is still the preferred method of nutritional support even in patients with excessive body mass index. Often, this mass poses a hindrance in performing routine procedures. We present a case describing the technique used to safely place a fluoroscopically guided G-tube in a patient with a significant nutritional deficit after repair of a ruptured thoracic aneurysm. Her admission weight was in excess of 180 Kg. However, protracted respiratory insufficiency and mechanical ventilation prolonged her hospital course. The G-tube was successfully placed using a fluoroscopically guided technique. The advantages of such an approach are discussed.
Those Who Hear Music: Three Cases on Musical Hallucinations
Authors: Yasira Doluweera, Chathurie Suraweera
Journal: Case Rep Psychiatry (2018)
MeSH terms: Case Reports

Musical hallucination carries no diagnostic significance on its own. However, it is an interesting phenomenon which can occur in various organic and psychiatric disorders. We report three patients who presented with musical hallucinations due to different aetiologies, namely, due to hearing impairment, intracerebral haemorrhage, and schizophrenia. The case series also highlights the fact that different aetiologies should be managed differently for the patients to be benefited.
Thirty Years Later: Evolution of Treatment for Acute Left Main Coronary Artery Occlusion
Authors: Moshe Y Flugelman, Nissan Ben-Dov, Basheer Karkabi, Ronen Jaffe
Journal: Case Rep Cardiol (2016)

Acute occlusion of left main coronary artery is a catastrophic event. We describe two patients with acute occlusion of the left main coronary artery treated thirty years apart. The first patient was treated in 1982 and survived the event without revascularization but developed severe heart failure. His survival was so unusual that it merited a case report at that time. The second patient was treated at the end of 2015. Early revascularization resulted in myocardial reperfusion and near normal left ventricular function. These patients exemplify the progress in therapeutic cardiology over the last 30 years.
Hereditary Thrombotic Thrombocytopenic Purpura in a Chinese Boy With a Novel Compound Heterozygous Mutation of the ADAMTS13 Gene
Authors: Yi-Ling Dai, Xue Tang, Hong-Bo Chen, Qiu-Yu Peng, Xia Guo, Ju Gao
Journal: Front Pediatr (2020)
Keywords: adamts13, chinese, upshaw-schulman syndrome, hereditary thrombotic thrombocytopenic purpura, novel mutation
MeSH terms: Case Reports

Hereditary thrombotic thrombocytopenic purpura (TTP) is caused by ADAMTS13 mutations with autosomal recessive inheritance. It typically presents during childhood and is frequently misdiagnosed as immune thrombocytopenia. We present a case of hereditary TTP with an undescribed compound heterozygous ADAMTS13 mutation in a Chinese boy. A 12-year-old boy with a history of intermittent thrombocytopenia in the prior 6 years had severe deficiency of plasma ADAMTS13 and harbored a novel compound heterozygous mutation which was also identified in his sister. The c.577C>T was a pathogenic variant reported exclusively in Japanese cases. The undescribed c.2397C>A non-sense mutation was predicted to encode a truncated protein. Identification of the specific novel heterozygous ADAMTS13 mutation in the Chinese family, consisting a variant restricted to Asian individuals and an undescribed c.2397C>A non-sense mutation, demonstrates genetic diversity underlying hereditary TTP, and possibly ethnic skewed mutation profiles.
Central Hyperthermia Treated with Bromocriptine
Authors: P Natteru, P George, R Bell, P Nattanmai, C R Newey
Journal: Case Rep Neurol Med (2017)
MeSH terms: Case Reports

Introduction. Central hyperthermia is common in patients with brain injury. It typically has a rapid onset with high temperatures and marked fluctuations and responds poorly to antibiotics and antipyretics. It is also associated with worse outcomes in the brain injured patient. Recognizing this, it is important to aggressively manage it. Case Report. We report a 34-year-old male with a right thalamic hemorrhage extending to the midbrain and into the ventricles. During his admission, he developed intractable fevers with core temperatures as high as 39.3°C. Infectious workup was unremarkable. The fever persisted despite empiric antibiotics, antipyretics, and cooling wraps. Bromocriptine was started resulting in control of the central hyperthermia. The fever spikes were reduced to minor fluctuations that significantly worsened with any attempt to wean off the bromocriptine. Conclusion. Diagnosing and managing central hyperthermia can be challenging. The use of bromocriptine can be beneficial as we have reported.
Radiation-Induced Sarcoma Originating in Recurrent Juvenile Nasopharyngeal Angiofibroma
Authors: Smriti Panda, Madhu Rajeshwari, Chirom Amit Singh, Suresh C Sharma, Pirabu Sakthivel
Journal: Case Rep Oncol Med (2018)
MeSH terms: Case Reports

Juvenile nasopharyngeal angiofibroma is a benign disease affecting young males with a propensity to invade intracranially and into the orbit along preformed pathways. Complete surgical excision is the mainstay of management. Patients with multiple recurrences along with tumour extension into skull base and orbit can be considered for external beam radiation as either adjuvant or definitive treatment. Possibility of radiation-induced malignancy has been speculated by many authors, proof of which exists in only two studies so far. This report focuses on radiation-induced leiomyosarcoma in a patient with recurrent juvenile nasopharyngeal angiofibroma.
Metastatic uterine leiomyosarcoma in the upper buccal gingiva misdiagnosed as an epulis
Authors: Andrea Cassoni, Valentina Terenzi, Davina Bartoli, Oriana Rajabtork Zadeh, Andrea Battisti, Mario Pagnoni, Davide Conte, Alessandro Lembo, Sandro Bosco, Francesco Alesini, Valentino Valentini
Journal: Case Rep Oncol Med (2014)
MeSH terms: Case Reports

Uterine leiomyosarcoma (LMS) is a rare tumor constituting 1% of all uterine malignancies. This sarcoma demonstrates an aggressive growth pattern with an high rate of recurrence with hematologic dissemination; the most common sites are lung, liver, and peritoneal cavity, head and neck district being rarely interested. Only other four cases of metastasis in the oral cavity have been previously described. The treatment of choice is surgery and the use of adjuvant chemotherapy and radiation has limited impact on clinical outcome. In case of metastases, surgical excision can be performed considering extent of disease, number and type of distant lesions, disease free interval from the initial diagnosis to the time of metastases, and expected life span. We illustrate a case of uterine LMS metastasis in the upper buccal gingiva that occurred during chemotherapy in a 63-year-old woman that underwent a total abdominal hysterectomy with bilateral salpingo-oophorectomy for a diagnosis of LMS staged as pT2bN0 and that developed lung metastases eight months after primary treatment. Surgical excision of the oral mass (previously misdiagnosed as epulis at a dental center) and contemporary reconstruction with pedicled temporalis muscle flap was performed in order to improve quality of life. Even if resection was achieved in free margins, "local" relapse was observed 5 months after surgery.
Radiotherapy for keratoacanthoma of facial skin: A case report and review of literature
Authors: Xiaojing Jia, Ying Ge, Hongyong Wang, Yan Ma
Journal: Front Oncol (2023)
Keywords: case report, intensity modulated radiotherapy, keratoacanthoma, radiotherapy, superficial electron beam
MeSH terms: Case Reports

Background:
Keratoacanthoma (KA) is a benign tumor that arises from the infundibulum of hair follicles. However, some researchers believe that KA is a subtype of squamous cell carcinoma (SCC) or a borderline tumor. There are two types of KA: single-type and multiple-type. Surgical resection is the first-line treatment for KA. The treatment options for patients with large lesions who are not surgical candidates are limited. We present a case of single-type KA patients with basic diseases and large lesions that were untreatable surgically, but the lesions essentially disappeared after radiotherapy. No recurrences were discovered during the two-year follow-up.
Case description:
A 62-year-old male patient was admitted to the dermatology department of our hospital in June 2020 due to the discovery of a red papule on the right face two months prior, with occasional itching, which increased gradually. Pathological examination confirmed the diagnosis of KA. Due to the large lesions and underlying diseases, he was transferred to our radiotherapy department for radiotherapy after consultation. Since the surface of the lesion is uneven and close to the corner of the eye, we adopted intensity modulated radiation therapy (IMRT) at the beginning of radiotherapy. Following the reduction of the lesion, superficial electron beam and added a bolus with thickness of 5mm on the surface of the lesion was continued. The target dose: 42Gy/21 fractions (6MV X-ray, 22Gy; 2Gy/fraction; a total of 11 fractions, 6MeV electron beam, 20Gy; 2Gy/fraction; a total of 10 fractions). By the end of radiotherapy, the patient's facial tumor was dry and subsided. The facial tumor subsided significantly two years after radiotherapy, and the damaged skin on the face recovered to a flat shape.
Conclusions:
The treatment experience of this case shows that IMRT combined with superficial electron beam radiotherapy may be an effective treatment for single-type KA patients with basic diseases and large lesions that are not suitable for surgery, and it is worth further study.
Case report: Immunological characteristics of de novo ulcerative colitis in a child post COVID-19
Authors: Atsushi Morita, Kazuo Imagawa, Manabu Tagawa, Noriaki Sakamoto, Hidetoshi Takada
Journal: Front Immunol (2023)
Keywords: sars-cov-2 spike protein, t cell receptor (tcr), cytokine - immunological terms, gut barrier, inflammatory bowel disease, lipopolysaccharide-binding protein (lbp), multisystem inflammatory syndrome in children (mis-c), zonulin
MeSH terms: COVID-19, Colitis, Ulcerative, Inflammatory Bowel Diseases, Case Reports, Antibodies, Viral, CD8-Positive T-Lymphocytes, Child, Female, Humans, Receptors, Antigen, T-Cell, SARS-CoV-2, spike protein, SARS-CoV-2, Antibodies, Viral, Receptors, Antigen, T-Cell, pediatric multisystem inflammatory disease, COVID-19 related

The pathological mechanisms of de novo inflammatory bowel disease (IBD) following SARS-CoV-2 infection are unknown. However, cases of coexisting IBD and multisystem inflammatory syndrome in children (MIS-C), which occurs 2-6 weeks after SARS-CoV-2 infection, have been reported, suggesting a shared underlying dysfunction of immune responses. Herein, we conducted the immunological analyses of a Japanese patient with de novo ulcerative colitis following SARS-CoV-2 infection based on the pathological hypothesis of MIS-C. Her serum level of lipopolysaccharide-binding protein, a microbial translocation marker, was elevated with T cell activation and skewed T cell receptor repertoire. The dynamics of activated CD8+ T cells, including T cells expressing the gut-homing marker α4β7, and serum anti-SARS-CoV-2 spike IgG antibody titer reflected her clinical symptoms. These findings suggest that SARS-CoV-2 infection may trigger the de novo occurrence of ulcerative colitis by impairing intestinal barrier function, T cell activation with a skewed T cell receptor repertoire, and increasing levels of anti-SARS-CoV-2 spike IgG antibodies. Further research is needed to clarify the association between the functional role of the SARS-CoV-2 spike protein as a superantigen and ulcerative colitis.
Treatment of Cervical Pregnancy with Ultrasound-Guided Intragestational Injection of Methotrexate: A Case Report
Authors: Angeliki Rouvali, Panagiotis Vlastarakos, Sofoklis Stavros, Maria Giourga, Kalliopi Pappa, Angeliki Gerede, Alexandros Rodolakis, Ekaterini Domali
Journal: Case Rep Obstet Gynecol (2021)
MeSH terms: Case Reports

This study is aimed at describing a noninvasive conservative strategy to the treatment of cervical pregnancy and highlighting the success of ultrasound-guided therapeutic techniques. A 43-year-old woman with a history of one previous cesarean section presented in our unit with vaginal spotting and a positive urine pregnancy test. She was diagnosed with a cervical pregnancy, and she was successfully treated conservatively with the administration of intragestational sac methotrexate under ultrasound guidance. Cervical pregnancy is a rare form of ectopic pregnancy that results from conceptus implantation in the cervical canal. The main concern is the associated life-threatening hemorrhage and subsequent need for urgent hysterectomy. The evolution of ultrasound over the past decades has enabled early diagnosis and has shifted the management from a radical surgical approach towards a stepwise conservative therapeutic approach, when possible.
Unsuccessful Intubation and Stabilization by Laryngeal Mask Airway in the Delivery Room: A Case of Tracheal Atresia
Authors: Mark Cody Smith, Autumn Kiefer, C Eric Bailey
Journal: Case Rep Pediatr (2021)
MeSH terms: Case Reports

A term male newborn infant was apneic at birth, and endotracheal intubation was unsuccessful. He was stabilized for transport with a laryngeal mask airway. Laryngoscopy revealed tracheal atresia with intrathoracic distal tracheoesophageal fistula. A laryngeal mask airway may provide ventilation in tracheal atresia patients with a fistula.
Acute Adrenal Hemorrhage as the Initial Manifestation of Metastatic Lung Adenocarcinoma: A Cautionary Tale
Authors: Sowbharnika Arivazhagan, Guru Prasad Parthiban, Christina Patterson, Karthik Reddy
Journal: Case Rep Oncol Med (2022)
MeSH terms: Case Reports

Adrenal gland metastatic disease is the most commonly occurring malignancy of the adrenal glands. Although metastatic disease is common, adrenal hemorrhage is a rare but potentially fatal manifestation of malignancy. The objectives of this case report are to highlight the unusual presentation of metastatic lung adenocarcinoma as spontaneous adrenal hemorrhage in a 64-year-old female who was otherwise asymptomatic. As well as to support the reasoning that metastatic disease should be considered as a differential in patients with this clinical presentation as this may have altered this fatal outcome.
Consistency in diagnostic suggestions does not influence the tendency to accept them
Authors: Kees van den Berge, Silvia Mamede, Tamara van Gog, Jan van Saase, Remy Rikers
Journal: Can Med Educ J (2012)

Background:
Studies suggest that residents tend to accept diagnostic suggestions, which could lead to diagnostic errors if the suggestion is incorrect. Those studies did not take into account that physicians in clinical practice will mainly encounter correct suggestions. The present study investigated residents' diagnostic performance if they would first encounter a number of correct suggestions followed by a number of incorrect suggestions, and vice versa. It was hypothesized that more incorrect suggestions would be accepted if participants had first evaluated a series of correct suggestions.
Method:
Residents (n = 38) evaluated suggested diagnoses on eight written clinical cases. Half of the participants first evaluated four correct suggestions and then evaluated four incorrect suggestions (C/I condition). The other half started with the four incorrect suggestions followed by the correct suggestions (I/C condition).
Results:
Our findings show that the evaluation score in the C/I condition (M = 2.87, MSE = 0.14) equaled that in the I/C condition (M = 2.66, MSE = 0.14), F(1,36) = 1.09, p = 0.30, ns, meaning that consistency in preceding suggested diagnoses did not influence the tendency to accept subsequent diagnostic suggestions. There was, however, a significant interaction effect between case order and phase, F(1,36) = 11.82, p = 0.001, η p (2) = 0.25, demonstrating that the score on cases with correct suggestions was higher than the score on cases with incorrect suggestions.
Conclusion:
These findings indicate that consistency in preceding correct or incorrect diagnostic suggestions did not influence the tendency to accept or reject subsequent suggestions. However, overall residents still showed a tendency to accept diagnostic suggestions, which may lead to diagnostic errors if the suggestion is incorrect.
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome Associated With a Novel Mutation of FOXP3 Gene
Authors: Charalampos Agakidis, Eleni Agakidou, Kosmas Sarafidis, Ioannis Papoulidis, Ioannis Xinias, Evangelia Farmaki
Journal: Front Pediatr (2019)
Keywords: ige, treg cells, autoimmune hepatitis, eczema, eosinophilia, hydrops fetalis, miscarriage, x-linked disorders
MeSH terms: Case Reports

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare, x-linked, recessive disorder characterized by dysfunction of the T regulatory (Treg) lymphocytes leading to autoimmune diseases. Herein we report a male patient with IPEX syndrome who presented with severe diarrhea, eczema, and malabsorption leading to failure to thrive and necessitating total parenteral nutrition, as well as with liver dysfunction. Laboratory investigation showed elevated liver enzymes that declined following treatment with glucocorticosteroids and immunosuppressive drugs, marked eosinophilia, increased total IgE, and decreased Treg cells. DNA analysis revealed that the patient himself was hemizygous and his mother heterozygous for the exon 10, c.1015C>T (p.Pro339Ser) mutation of the FOXP3 gene, which has not been previously reported. The current case indicates that mutations resulting in substitution of a certain amino-acid (i.e., proline 339) by different amino-acids are manifested with different IPEX phenotypes.
Type B Lactic Acidosis in a Patient with Mantle Cell Lymphoma
Authors: Ikemsinachi C Nzenwa, Margaret Berquist, Toby J Brenner, Aida Ansari, Hamid D Al-Fadhl, Michael Aboukhaled, Shivani S Patel, Ethan E Peck, Mahmoud D Al-Fadhl, Anthony V Thomas, Nuha Zackariya, Mark M Walsh, Jose A Bufill
Journal: Case Rep Crit Care (2023)
MeSH terms: Case Reports

Type B lactic acidosis is an uncommon medical emergency in which acid production overwhelms hepatic clearance. This specific etiology of lactic acidosis occurs without organ hypoperfusion and has been most commonly described in patients with hematologic malignancies but also in patients with solid tumors. The mechanism by which cancer cells switch their glucose metabolism toward increasingly anaerobic glycolytic phenotypes has been described as the "Warburg effect." Without treating the underlying malignancy, the prognosis for patients diagnosed with malignancy-related type B lactic acidosis is extremely poor. Here, we present a case of a 66-year-old male who was diagnosed with type B lactic acidosis secondary to mantle cell lymphoma. Bicarbonate drip was started to correct the lactic acidosis. The patient was also immediately treated with rituximab chemotherapy combined with rasburicase to avoid the hyperuricemia associated with tumor lysis syndrome. He responded to the early treatment and was discharged with normal renal function. Type B lactic acidosis secondary to hematologic malignancy is important to recognize. In order to successfully treat this syndrome, early diagnosis and simultaneous treatment of the imbalance of lactic acid levels and the underlying malignancy are necessary.
Heterotopic ossification in the middle finger: a case report
Authors: Philip Ian G Barlaan, Wing-Yuk Ip
Journal: Case Rep Orthop (2011)
MeSH terms: Case Reports

A case of heterotopic ossification developed after traumatic laceration of the middle finger. It is extremely rare for heterotopic ossification to locate in the finger. The diagnosis was accomplished with plain radiographs as well as with MRI and confirmatory study with histopathological microscopic examination which demonstrated nubbin of bone surrounded by fibrovascular connective tissue, and the marrow was predominantly fatty with prominent ectatic vessels and patchy mild lymphocytic infiltrate and gross appearance of partly calcified bony tissue.
Image of the Month: How to Select the Ideal Surgical Approach in Male Anorectal Malformation with No Visible Fistula
Authors: Anisha Apte, Elise McKenna, Marc A Levitt
Journal: European J Pediatr Surg Rep (2020)
Keywords: anorectal malformation, anorectoplasty, distal colostogram
MeSH terms: Case Reports

We present a case of a 6-month-old male infant with an anorectal malformation (ARM) who underwent colostomy as a newborn, and now presents for definitive repair. A colostogram is shown to identify the malformation and to help plan for the ideal surgical approach. The case is presented with a focus on surgical strategies for management of ARM in the male infant, with questions for the readers posed in a quiz format.