OpenMed/multicare-articles huggingface dataset:
Case Report: Pseudomonas can take a toll on a patient
Authors: David K Buchbinder, Jasjit Singh, Tuan Dao, Aaron Sassoon, Antonio Arrieta
Journal: F1000Res (2021)
Keywords: case report, innate immunity, interleukin-1 receptor-associated kinase-4, toll like receptors
MeSH terms: Pseudomonas Infections / drug therapy, Pseudomonas, Case Reports, Child, Child, Preschool, Female, Homozygote, Humans, Pseudomonas aeruginosa, Sequence Deletion

Pseudomonas aeruginosa ( P. aeruginosa) is an aerobic Gram-negative bacterium that is implicated in the development of severe systemic infections among pediatric patients. It is identified in hospitalized chronically ill pediatric patients in association with genitourinary, respiratory tract, and skin or soft tissue infections as well as severe and life-threating infection including sepsis. A variety of immunologic mechanisms play a vital role in the host defense mechanisms against invasive infections with P. aeruginosa. Rarely, specific inborn errors of immune function are implicated in deficiencies that predispose to invasive infections with P. aeruginosa. Innate immune function including germ-line encoded pattern recognition receptors such as toll-like receptors (TLRs) and their downstream signaling is vital in the host defense against P. aeruginosa through the generation of antimicrobial peptides, cytokines/chemokines, and shaping of adaptive immune responses. Herein, we describe a previously healthy two-year-old female with an invasive skin, soft tissue, and central nervous system infection secondary to P. aeruginosa. The invasive nature of this infection prompted a careful evaluation for an inborn error of immunity. Decreased cytokine response to agonists of TLRs was documented. Targeted sequencing of interleukin-1 receptor-associated kinase (IRAK)-4 documented a homozygous deletion of exons 8-13 consistent with IRAK-4 deficiency. This report provides a vital educative message in the existing scientific literature by underscoring the importance of considering inborn errors of immunity in all patients with severe P. aeruginosa infections. Functional assessments of immune function often in combination with sequencing can accurately assign a diagnosis in a timely fashion allowing for definitive treatment and the use of necessary supportive care.
Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation
Authors: Antía Fernández-Pombo, José M Cameselle-Teijeiro, Jose A Puñal-Rodríguez, Lourdes Loidi, Roberto Peinó-García, Paloma Cabanas-Rodríguez, Miguel Garrido-Pumar, Sandra Baleato-González, Enrique Flores-Ríos, David Araújo-Vilar
Journal: Case Rep Endocrinol (2019)
MeSH terms: Case Reports

Phaeochromocytomas and paragangliomas are rare catecholamine-secreting tumours arising from the adrenal medulla or sympathetic paraganglia. It is known that 20-30% of all cases occur as a result of germline variants in several well known genes. The TMEM127 gene was recently identified as a new phaeochromocytoma susceptibility gene. However, until a larger sample of cases is available, the prevalence, genotype-phenotype correlation, and a clear predominant biochemical pattern of TMEM127-related PCC, remain to be defined. We present a woman with the pathogenic variant c.86delG (p.Arg29Leufs∗52) in the TMEM127 gene, which has not been previously reported, associated to a bilateral phaeochromocytoma, with an uncommon initial clinical presentation and a biochemical profile that is distinctly adrenergic. Her two young children carry the same variant and are, at present, disease-free. Physicians should be aware that phaeochromocytoma can manifest in an atypical manner, as with episodic hypotension, mainly if the symptoms have no obvious aetiology and they worsen over time. This case also supports the presence of a predominant adrenaline secreting pattern in TMEM127-positive tumours, as well as the need to consider multigene panel testing in patients with bilateral phaeochromocytomas.
Painful swollen leg--think beyond deep vein thrombosis or Baker's cyst
Authors: Buchi R B Arumilli, Vinayagam Lenin Babu, Ashok S Paul
Journal: World J Surg Oncol (2008)
MeSH terms: Liposarcoma / diagnosis, Muscle Neoplasms / diagnosis, Popliteal Cyst / diagnosis, Sarcoma / diagnosis, Venous Thrombosis / diagnosis, Case Reports, Aged, Diagnosis, Differential, Female, Humans, Leg / blood supply, Liposarcoma / therapy, Male, Middle Aged, Sarcoma / therapy

Background:
The diagnosis of deep vein thrombosis of leg is very common in clinical practice. Not infrequently a range of pathologies are diagnosed after excluding a thrombosis, often after a period of anticoagulation.
Case presentation:
This is a report of three patients who presented with a painful swollen leg and were initially treated as a deep vein thrombosis or a baker's cyst, but later diagnosed as a pleomorphic sarcoma, a malignant giant cell tumor of the muscle and a myxoid liposarcoma. A brief review of such similar reports and the relevant literature is presented.
Conclusion:
A painful swollen leg is a common clinical scenario and though rare, tumors must be thought of without any delay, in a duplex negative, low risk deep vein thrombosis situation.
Clozapine in Treatment-Resistant Bipolar Disorder With Suicidality. Three Case Reports
Authors: Alina Wilkowska, Mariusz S Wiglusz, Wiesław J Cubała
Journal: Front Psychiatry (2019)
Keywords: bipolar depression, bipolar disorder, clozapine, suicidal ideation, treatment resistance
MeSH terms: Case Reports

Bipolar disorder is associated with a high risk of suicide attempts and suicide deaths. The suicide mortality of people with bipolar disorder is approximately 25 times higher than the general population. No approved pharmacological strategies for suicidal thoughts and attempts in bipolar disorder have been introduced so far, and lithium remains as the first-line treatment for suicidal subjects. Clozapine is also a potentially good candidate for this indication. This case series represents three treatment-resistant bipolar patients with severe suicidal ideation who responded to low-dose clozapine treatment.
Misdiagnosed pneumothorax interpreted as necrotizing fasciitis of the chest wall: case report of a potentially preventable death
Authors: Lucas S McDonald, Paul G Shupe, Kian Raiszadeh, Anshuman Singh
Journal: Patient Saf Surg (2014)
Keywords: necrotizing fasciititis, pneumothorax, subcutaneous emphysema
MeSH terms: Case Reports

Background:
Subcutaneous emphysema is an uncommon clinical finding associated both with benign sources and potentially deadly necrotizing infections. Wide ranges of causes exist including trauma, iatrogenic injuries, factitious disorders and necrotizing infections.
Case presentation:
A 49-year old male presented to the emergency room with extensive subcutaneous emphysema following blunt trauma. The orthopaedic surgery service was consulted for treatment of suspected necrotizing fasciitis due to his subcutaneous emphysema. A careful patient history and physical examination correlated with laboratory and radiographic findings revealed rib fractures and a long-standing, undiagnosed pneumothorax as the cause for emphysema. Treatment of the underlying condition with chest tubes led to eventual resolution of the emphysema, though multisystem organ failure ultimately resulted in patient death.
Conclusion:
This case illustrates the importance of rapidly and appropriately evaluating trauma patients, and in this case specifically diagnosing and treating the underlying cause of subcutaneous emphysema. The late diagnosis of pneumothorax resulted in delayed definitive treatment, which may have contributed to the patient's ultimate demise. In acute and sub-acute trauma situations a high level of suspicion for life threatening injuries must be maintained. Decision making for initial treatment should be based on the basic tenants of Advanced Trauma Life Support to primarily address these injuries and help prevent further disability or death.
Hepatic Perivascular Epithelioid Cell Tumor Mimicking Hepatocellular Carcinoma
Authors: Rahul Harwal, Livin Jose Joseph Rosemary, Prabhakaran Raju, Sugumar Chidambaranathan, J Bharathi Vidya Jayanthi, Naganath Babu Obla Lakshmanamoorthy
Journal: ACG Case Rep J (2023)
Keywords: hcc, pecoma, liver, perivascular epithelioid cell
MeSH terms: Case Reports

Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal neoplasms, and liver PEComas are extremely rare. They are usually discovered incidentally, and diagnostic pitfalls are frequent owing to similar imaging characteristics to other liver neoplasms. We present a patient whose evaluation was consistent with a right-sided hepatocellular carcinoma for which right hepatectomy was performed. Based on the final histopathological examination and immunohistochemistry, a diagnosis of PEComa was made. Immunohistochemistry plays a crucial role in arriving at the diagnosis, and resection represents the standard of care. A long-term follow-up is recommended because the natural history of PEComas is unpredictable.
Primary Idiopathic Osteoarthropathy: Could It Be Related to Alcoholism?
Authors: Yanal Alnimer, Suresh Subedi, Thair Dawood, Ghassan Bachuwa
Journal: Case Rep Rheumatol (2017)
MeSH terms: Case Reports

Background. Hypertrophic osteoarthropathy (HOA) is a syndrome characterized by abnormal proliferation of the skin and bony structures at the distal extremities resulting in digital clubbing, periosteal bony reaction, and joint effusion. It can be primary (idiopathic) without any clear identifiable etiology as well as secondary to variety of systemic diseases most notably lung pathology. Case Presentation. We describe a rare case of primary idiopathic osteoarthropathy in a male patient who presented with severe pain and tenderness in his legs. His history was significant for long standing alcoholism. Physical examination showed severe fingers and toes clubbing. He reported similar changes in his mother. Clinical and radiological findings were remarkable for distal leg tenderness and diffuse periosteal bony reactions, respectively. Computerized tomography scan failed to show any pathology apart from fatty liver infiltration. In the absence of obesity or diabetes, this was consistent with alcoholic steatosis. He was started on nonsteroidal anti-inflammatory drug which dramatically improved his symptoms. Conclusion. Primary hypertrophic osteoarthropathy should be considered in a previously healthy person presenting with bony pain and finger clubbing especially after ruling out the common secondary causes. Moreover, alteration of prostaglandin metabolism secondary to alcoholic consumption might be a contributing factor.
Angiosarcoma of the Face: A Case Study and Literature Review of Local and Metastatic Angiosarcoma
Authors: Hugo Lara-Martinez, Molly Weinberg, Praneeth Baratam, Jeffrey Horn, Kristine Ward, Michael Styler
Journal: Case Rep Oncol Med (2021)
MeSH terms: Case Reports

Angiosarcomas are vascular malignancies with a tendency to spread extensively both locally and systemically. We report a case of cutaneous angiosarcoma of the face in a 53-year-old man that was originally misdiagnosed as an abscess. Initially small, the lesion enlarged over a four-to-six-month period and began to bleed. Two shave biopsies were performed that returned a diagnosis of angiosarcoma. The patient underwent radical resection and lymph node dissection, which revealed positive margins and ten of forty-six positive lymph nodes. The patient was treated with paclitaxel and concurrent radiation therapy (RT). Restaging scans showed a new sclerotic lesion of the T10 vertebra, three hepatic lesions, and an adrenal lesion, all concerning for metastasis. Biopsy of one of the hepatic lesions was consistent with metastatic angiosarcoma. In this review, we discuss the presentation of cutaneous angiosarcoma, the importance of early diagnosis, and the treatment options available for metastatic disease that has failed first-line chemotherapy.
Gonadal Dysgenesis 46, XX Associated with Mayer-Rokitansky-Kuster-Hauser Syndrome: One Case Report
Authors: N Bousfiha, S Errarhay, H Saadi, K Ouldim, C Bouchikhi, A Banani
Journal: Obstet Gynecol Int (2010)
MeSH terms: Case Reports

Introduction. The association of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome is very rare and appears to be coincidental, independent of chromosomal anomalies. Case Report. We report the case of a 19-year-old woman who presented primary amenorrhea and impuberism. The endocrine study revealed hypergonadotrophic hypogonadism. The karyotype was normal, 46XX. No chromosome Y was detected at the FISH analysis. Internal genitalia could not be identified on the pelvic ultrasound and pelvic MRI. Laparoscopy was undertaken and revealed concomitant ovarian dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome. There were no other morphological malformations. Conclusion. The pathogenesis of the association of gonadal dysgenesis and Mayer Rokitansky kuster hauser syndrome is still mysterious. The treatment is based essentially on hormone substitution therapy. The fertility prognosis is unfortunately compromised.
Development of Vaginal Pseudoaneurysm 3 Years after Cesarean Section Possibly Induced by Anticoagulant and Antiplatelet Therapies
Authors: Yui Kinjo, Tadatsugu Kinjo, Keiko Mekaru, Hayase Nitta, Hitoshi Masamoto, Yoichi Aoki
Journal: Case Rep Obstet Gynecol (2020)
MeSH terms: Case Reports

Pseudoaneurysms generally develop when an arterial puncture site is inadequately sealed. We encountered a case of vaginal pseudoaneurysm that developed 3 years after cesarean section in a 35-year-old gravida 7 para 4 woman who was prescribed with anticoagulant and antiplatelet drugs after surgeries for ventricular septal defect and aortic valve replacement. Pelvic computed tomography scan revealed a large mass, which showed a dappled contrast filling on the arterial phase, located in the posterior vaginal wall. The vaginal pseudoaneurysm was completely occluded by embolization of the left vaginal artery. Anticoagulation and antiplatelet therapies can be potential causes of spontaneous pseudoaneurysm rupture. Extrauterine pseudoaneurysm has a long period of time between cesarean section and pseudoaneurysm discovery. Considering that pseudoaneurysm shows different clinical features for each patient, we should always consider pseudoaneurysm when we assess a patient with postpartum hemorrhage.
Sustained complete response to first-line immunochemotherapy for highly aggressive TP53/MDM2-mutated upper tract urothelial carcinoma with ERBB2 mutations, luminal immune-infiltrated contexture, and non-mesenchymal state: a case report and literature review
Authors: Tianyuan Xu, Hanxu Guo, Jun Xie, Yanyan He, Jianping Che, Bo Peng, Bin Yang, Xudong Yao
Journal: Front Oncol (2023)
Keywords: erbb2, tp53/mdm2, case report, circulating tumor dna (ctdna), immunochemotherapy, luminal-infiltrated, sintilimab, upper tract urothelial carcinoma
MeSH terms: Case Reports

Background:
Upper tract urothelial carcinoma (UTUC) is a rare malignancy. The management of metastatic or unresectable UTUC is mainly based on evidence extrapolated from histologically homologous bladder cancer, including platinum-based chemotherapy and immune checkpoint inhibitor alone, whereas UTUC exhibits more invasiveness, worse prognosis, and comparatively inferior response to treatments. First-line immunochemotherapy regimens have been attempted in clinical trials for unselected naïve-treated cases, but their efficacies relative to standard chemo- or immuno-monotherapy still remain controversial. Here, we present a case of highly aggressive UTUC for whom comprehensive genetic and phenotypic signatures predicted sustained complete response to first-line immunochemotherapy.
Case presentation:
A 50-year-old man received retroperitoneoscopic nephroureterectomy and regional lymphadenectomy for high-risk locally advanced UTUC. Postoperatively, he developed rapid progression of residual unresectable metastatic lymph nodes. Pathologic analysis and next-generation sequencing classified the tumor as highly aggressive TP53/MDM2-mutated subtype with features more than expression of programmed death ligand-1, including ERBB2 mutations, luminal immune-infiltrated contexture, and non-mesenchymal state. Immunochemotherapy combining gemcitabine, carboplatin, and off-label programmed death-1 inhibitor sintilimab was initiated, and sintilimab monotherapy was maintained up to 1 year. Retroperitoneal lymphatic metastases gradually regressed to complete response. Blood-based analyses were performed longitudinally for serum tumor markers, inflammatory parameters, peripheral immune cells, and circulating tumor DNA (ctDNA) profiling. The ctDNA kinetics of tumor mutation burden and mean variant allele frequency accurately predicted postoperative progression and sustained response to the following immunochemotherapy, which were mirrored by dynamic changes in abundances of ctDNA mutations from UTUC-typical variant genes. The patient remained free of recurrence or metastasis as of this publishing, over 2 years after the initial surgical treatment.
Conclusion:
Immunochemotherapy may be a promising first-line option for advanced or metastatic UTUC selected with specific genomic or phenotypic signatures, and blood-based analyses incorporating ctDNA profiling provide precise longitudinal monitoring.
Unusual presentation of sarcoidosis: solitary intracranial mass lesion mimicking an intracranial neoplasm: a case report
Authors: Amen Ghozzi, Heifa Azouz, Inès Chelly, Haifa Nfoussi, Hafedh Jemal, Nidhameddine Kchir, Slim Haouet, Moncef Zitouna
Journal: Pan Afr Med J (2014)
Keywords: sarcoidosis, nervous system, pathology
MeSH terms: Central Nervous System Diseases / diagnosis, Sarcoidosis / diagnosis, Case Reports, Adult, Brain Neoplasms / diagnosis, Diagnosis, Differential, Female, Glioma / diagnosis, Humans, Magnetic Resonance Imaging, Neurosarcoidosis

Sarcoidosis is a multisystem disease of unknown cause and with a worldwide distribution. Involvement of the central nervous system occurs in a relatively small number of patients with sarcoidosis. Isolated neurosarcoidosis without signs of systemic disease however is a rare. In this report, we present an unusual case of neurosarcoidosis with intra cranial mass mimicking radiologically a glioma. Pathological examination revealed intraparenchymatous necrotising granulomatous lesions. After clinicopathological correlation, the diagnosis of a necrotizing cerebral granulomatosis (neurosarcoidosis) with atypical systemic involvement was made. Because of its non-specific clinical presentation and neuroradiological imaging characteristics, intracranial neurosarcoidosis remains a very difficult diagnosis, particularly in the absence of systemic signs of the disease.
Long-term outcome after implantation of a nickel-containing cemented hip stem on the right in a patient with type IV sensitization to nickel sulphate
Authors: Sarah Armonies, Dirk Zajonz, Regina Treudler, Andreas Roth, Mohamed Ghanem
Journal: GMS Interdiscip Plast Reconstr Surg DGPW (2019)
Keywords: joint replacement, nickel-sulfate allergy, type iv sensitization
MeSH terms: Case Reports

Type IV allergies to nickel sulfate, potassium dichromate and/or cobalt chloride are supposed to be associated with aseptic loosening, pain or infections in patients with hip arthroplasty. However, there is debate on any causal relation between type IV sensitization to metals and any of these complications. We report on a patient with suspicion of pre-existing type IV sensitization to nickel sulfate and potassium dichromate who did not show any complications after hip arthroplasty.
Right lower quadrant abdominal pain in a patient with prior ventriculoperitoneal shunting: consider the tip!
Authors: Petros Charalampoudis
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

Introduction. Ventriculoperitoneal (VP) shunting is the treatment of choice for nonobstructive hydrocephalus. In patients with such a device, right lower quadrant abdominal pain can puzzle the surgeon, posing a differential diagnostic problem among appendicitis, nonsurgical colicky pain, and primary shunt catheter tip infection. Treatment is different in either case. Presentation of Case. We hereby present a case of a young woman with prior ventriculoperitoneal shunt positioning who presented to our department with right lower quadrant abdominal pain. The patient underwent a 24-hour observation including a neurosurgery consult in order to exclude acute appendicitis and VP shunt tip infection. Twenty four hours later, the patient's symptomatology improved, and she was discharged with the diagnosis of atypical colicky abdominal pain seeking a gastroenterologist consult. Discussion. This case supports that when a patient with prior VP shunting presents with right lower quadrant abdominal pain, differential diagnosis can be tricky for the surgeon. Conclusion. Apart from acute appendicitis, primary or secondary VP catheter tip infection must be considered because the latter can be disastrous.
Abdominal Lymphangioma and Hemangioma in a Newborn
Authors: Charikleia D Demiri, Christos Kaselas, Dimitrios Godosis, Andreas Neofytou, Ioannis Spyridakis
Journal: Case Rep Pediatr (2019)
MeSH terms: Case Reports

Abdominal hemangiolymphangioma (HLA) in neonates is a rare condition that demands surgical intervention after a complete preoperative diagnostic approach. The differential diagnosis and the establishment of a therapeutic algorithm is a challenge, both for the neonatologists and the pediatric surgeons, because there is no consensus in the management of HLAs in infancy according to the literature. We report a rare case of abdominal HLA in a female newborn that was admitted to our pediatric surgery department with a prenatal diagnosis of an abdominal cystic tumor. After a thorough preoperative diagnostic approach, the neonate underwent an explorative laparotomy and lesion excision with simultaneous splenectomy due to the operative findings. The neonate had an uncomplicated postoperative period and is free of recurrence a year after. Only the pathology examination can reveal the HLA diagnosis. When a total surgical excision is evitable, a close follow-up follows an uncomplicated postoperative hospitalization.