OpenMed/multicare-articles huggingface dataset:
Invasive pulmonary aspergillosis in patients with decompensated cirrhosis: case series
Authors: Hélène Prodanovic, Christophe Cracco, Julien Massard, Camille Barrault, Dominique Thabut, Alexandre Duguet, Annick Datry, Jean-Philippe Derenne, Thierry Poynard, Thomas Similowski
Journal: BMC Gastroenterol (2007)
MeSH terms: Aspergillosis / diagnosis, Aspergillus fumigatus / isolation & purification, Fungemia / diagnosis, Liver Cirrhosis, Alcoholic / complications, Liver Failure / etiology, Case Reports, Antifungal Agents / therapeutic use, Aspergillosis / therapy, Biopsy, Needle, Disease Progression, Fatal Outcome, Female, Fluid Therapy, Fungemia / therapy, Humans, Liver Failure / pathology, Liver Failure / therapy, Liver Function Tests, Male, Middle Aged, Multiple Organ Failure, Respiratory Distress Syndrome / diagnosis, Respiratory Distress Syndrome / etiology, Severity of Illness Index, Antifungal Agents

Background:
Opportunistic invasive fungal infections are increasingly frequent in intensive care patients. Their clinical spectrum goes beyond the patients with malignancies, and for example invasive pulmonary aspergillosis has recently been described in critically ill patients without such condition. Liver failure has been suspected to be a risk factor for aspergillosis.
Case presentation:
We describe three cases of adult respiratory distress syndrome with sepsis, shock and multiple organ failure in patients with severe liver failure among whom two had positive Aspergillus antigenemia and one had a positive Aspergillus serology. In all cases bronchoalveolar lavage fluid was positive for Aspergillus fumigatus. Outcome was fatal in all cases despite treatment with voriconazole and aggressive symptomatic treatment.
Conclusion:
Invasive aspergillosis should be among rapidly raised hypothesis in cirrhotic patients developing acute respiratory symptoms and alveolar opacities.
Coccygeal Pad With an Anterior Flexed Coccyx: A Case Report
Authors: Rina Hikiami, Natsuko Kakudo, Yuko Iguchi, Motoki Katsube, Naoki Morimoto, Masakatsu Hihara, Toshihito Mitsui, Takashi Yamauchi, Kenji Kusumoto
Journal: Eplasty (2016)
Keywords: anterior flex, coccygeal pad, epidermal hyperplasia, hyperkeratosis, sacrococcygeal angle
MeSH terms: Case Reports

Objective: A coccygeal pad is a nodular lesion in the sacrococcygeal area. It is a rare disease characterized by corneal thickening, the proliferation of collagen bundles, and an anterior flexed coccyx. In the English literature, 42 patients have been reported. Methods: We present a young male case of a typical coccygeal pad with an anterior flexed coccyx. Results: After resection of the nodule and coccygectomy, there has been no recurrence during the 6-month postoperative follow-up. Conclusions: Plastic surgeons should recognize this as a disease to be differentiated from gluteal skin tumors.
A Glucagonoma Presenting as Cerebral Vein Thrombosis and Diabetes
Authors: Marina Delli Colli, Bader N Alamri, Laura Palma, Juan Rivera
Journal: Case Rep Endocrinol (2022)
MeSH terms: Case Reports

Glucagonomas are rare pancreatic neuroendocrine tumors (pNETs), malignant in 80% of cases, thus highlighting the importance of early diagnosis and treatment. Primary manifestations are diabetes, dermatosis, depression, weight loss, and deep vein thrombosis. Unlike other pNETs, glucagonomas are associated with a higher incidence of thromboembolic events, often resulting in death. We present the case of a glucagonoma patient whose primary manifestation was cerebral sinus venous thrombosis (CS-VT). Early diagnosis enabled curative resection. The purpose of this paper is to review the underlying mechanisms associated with increased coagulopathy in glucagonomas.
Plasmablastic lymphoma of gingiva mimicking a reactive lesion: a case report
Authors: Neeta Bagul, G S Mamatha, Aditi Mahalle
Journal: Case Rep Dent (2012)

Oral plasmablastic lymphoma (PBL) is a rare malignancy, associated with HIV or other immunocompromised conditions. The lesion constituted a new subtype of diffuse large B-cell lymphoma and proposed a distinct entity based on its basic morphology, its clinical behaviour involving predominantly extramedullary sites (particularly oral cavity), and its limited antigenic phenotype data suggesting plasmacytic differentiation. Authors here report a case of apparently healthy individual aged 35 years, presenting one-month history of swelling associated with loosened teeth around upper anteriors. Following incisional biopsy, routine histopathologic and immunohistochemical studies, the diagnosis of plasmablastic lymphoma was given.
Bilateral upper limb amputations in victims of high tension electrical injuries: Three case studies
Authors: Cajetan Nwadinigwe, Obidiche S Olewe
Journal: Afr J Disabil (2015)
MeSH terms: Case Reports

Bilateral upper limb amputations result in severe disability. High voltage electrical injury is a rare cause of such an outcome and injuries often occur as occupational hazards. We present three case reports of accidental high voltage injuries that occurred in a non-occupational setting. Victims were all initially managed at other centres before referral to our hospital and all subsequently had bilateral upper limb amputations. The high cost of treatment, importance of prevention, and need for rehabilitation are highlighted.
Case report: Dramatic response to pralsetinib in an elderly patient with advanced RET-fusion positive papillary thyroid carcinoma
Authors: Margherita Nannini, Andrea Repaci, Gianluca Ricco, Manuela Ianni, Arber Golemi, Vincenzo Maiolo, Marco Ferrari, Filippo Natali, Elisa Lodi Rizzini, Fabio Monari, Erica Solaroli, Antonio De Leo, Thais Maloberti, Maria A Pantaleo, Dario De Biase, Giovanni Tallini
Journal: Front Oncol (2022)
Keywords: ret, ret-inhibitor, ret-rearrangement, differentiated thyroid cancer, papillary thyroid carcinoma, pralsetinib
MeSH terms: Case Reports

We are recently faced with a progressive evolution of the therapeutic paradigm for radioiodine refractory differentiated thyroid cancer (RAI-R DTC), since the advent of tissue agnostic inhibitors. Thus, tumor genotype assessment is always more relevant and is playing a crucial role into clinical practice. We report the case of an elderly patient with advanced papillary thyroid carcinoma (PTC) harboring RET-CCDC6 fusion with four co-occurring mutations involving PI3KCA, TP53, and hTERT mutations, treated with pralsetinib under a compassionate use program. Despite the high histological grade and the coexistence of aggressive RET co-mutations, an impressive metabolic and structural tumor response has been obtained, together with a patient's prolonged clinical benefit. A timely comprehensive molecular testing of those cases wild-type for the common thyroid carcinoma BRAF V600E-like and RAS-like driver mutations may uncover actionable gene rearrangements that can be targeted by highly selective inhibitors with great potential benefit for the patients.
Rapid Remission in Peripheral T-Cell Lymphoma of the Nasal Type by the Bortezomib plus CHOP Therapy
Authors: Li-Jun Xue, Xiao-Bei Mao, Xiao-Bei Liu, Quan-Sheng Su, Hong-Ju Yu, Ji-Hong Yang
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Peripheral T-cell lymphoma (PTCL) is rare and difficult to treat for its high relapse rate. The authors report a case of PTCL of the skin, regarding which clinical and pathological features, treatment, and prognosis were discussed. A 66-year-old woman was admitted with complaints of enlarging erythematous noduloplaques on the right anterior tibial skin for one year and similar lesions on the left for 6 months. Surgical resection of right leg lesion and biopsy of enlarged inguinal lymph nodes histologically indicated a PTCL of the nasal type. The patient was treated by CHOP plus bortezomib, reached complete remission just after two courses of chemotherapy and then received another two as consolidation. The patient remained in remission for 11 months until local relapse. As for cutaneous lesions, detailed lymph node examination and prompt tissue biopsy are judicious choices prior to any medical management. The chemotherapy consisting of bortezomib and CHOP is safe and efficient in PTCL of the skin.
Post-tracheostomy tracheoinnominate fistula: endovascular treatment
Authors: Lisieux Eyer de Jesus, Eduardo Wagner Guimarães Marques da Silva, Marcos Balieiro, Karen Feldman, Samuel Dekermacher
Journal: Rev Paul Pediatr (2021)
MeSH terms: Brachiocephalic Trunk / injuries, Respiratory Tract Fistula / surgery, Tracheostomy / adverse effects, Case Reports, Child, Preschool, Female, Hemorrhage / etiology, Humans, Respiratory Tract Fistula / etiology, Zika Virus Infection / complications

Objective:
Tracheoinnominate fistula (TIF) is a rare and frequently lethal complication of tracheostomies. Immediate bleeding control and surgical treatment are essential to avoid death. This report describes the successful endovascular treatment of TIF in a preschooler and reviews the literature concerning epidemiology, diagnosis, prophylaxis, and treatment of TIF in pediatric patients.
Case description:
A tracheostomized neurologically impaired bed-ridden three-year-old girl was admitted to treat an episode of tracheitis. Tracheostomy had been performed two years before. The child used a plastic cuffed tube continually inflated at low pressure. The patient presented two self-limited bleeding episodes through the tracheostomy in a 48h interval. A new episode was suggestive of arterial bleeding, immediately leading to a provisional diagnosis of TIF, which was confirmed by angiotomography, affecting the bifurcation of the innominate artery and the right tracheal wall. The patient was immediately treated by the endovascular placement of polytetrafluoroethylene (PTFE)/nitinol stents in Y configuration. No recurrent TIF, neurological problems, or right arm ischemia have been detected in the follow-up.
Comments:
TIF must be suspected after any significant bleeding from the tracheostoma. Endovascular techniques may provide rapid bleeding control with low morbidity, but they are limited to a few case reports in pediatric patients, all of them addressing adolescents. Long-term follow-up is needed to detect whether stent-related vascular complications will occur with growth.
Von Hippel-Lindau Disease (VHL): Characteristic Lesions with Classic Imaging Findings
Authors: Suryansh Bajaj, Darshan Gandhi, Divya Nayar, Ali Serhal
Journal: J Kidney Cancer VHL (2023)
Keywords: von hippel–lindau disease, carcinoma, cysts, hemangioblastoma, insulinoma, renal cell
MeSH terms: Case Reports

Von Hippel-Lindau disease (VHL) is a multisystem cancer syndrome caused by the inactivation of the VHL tumor suppressor gene and involves various organ systems including the central nervous system (CNS), endocrine system, and the kidneys. Tumors seen in patients with VHL disease can be benign or malignant and are usually multifocal, bilateral, and hypervascular in nature. As most lesions associated with VHL are asymptomatic initially, early diagnosis and the institution of an evidence-based surveillance protocol are of paramount importance. Screening, surveillance, and genetic counseling are key aspects in the management of patients diagnosed with VHL disease and often require a multidisciplinary approach and referral to specialized centers. This article will discuss the characteristic lesions seen with VHL disease, their diagnosis, screening protocols and management strategies, as well as an illustrative case to demonstrate the natural progression of the disease with classic imaging findings.
Development of hepatocellular carcinoma associated with anabolic androgenic steroid abuse in a young bodybuilder: a case report
Authors: Aline Hardt, Dirk Stippel, Margarete Odenthal, Arnulf H Hölscher, Hans-Peter Dienes, Uta Drebber
Journal: Case Rep Pathol (2012)
MeSH terms: Case Reports

Introduction. Many different etiological factors are involved in the development of hepatocellular carcinoma (HCC). We report the case of HCC in a 37-year-old male professional bodybuilder with extensive anabolic androgenic (AAS) steroid abuse. Case Presentation. Because of increasing epigastric and abdominal pain, abdominal ultrasound was performed in a 37-year-old male professional bodybuilder. A hyperechoic lesion in the liver was detected in segment VI. The magnetic resonance imaging showed hepatomegaly and confirmed the lesion, which showed features of a hepatocellular adenoma (HCA). Laboratory values were inconspicuous. After laparoscopic segmentectomy the histological examination revealed HCC. Conclusion. While the development of HCA in the liver by chronic intake of AAS is well known, little is known about the association with HCC. The presented case may indicate aetiological association of chronic intake of AAS and the development of HCC.
Neglected primary omental pregnancy after laparoscopic and medical treatment: a difficult diagnosis?
Authors: Federica Martelli, Caterina De Carolis, Carmelo Parisi, Emilio Piccione
Journal: Case Rep Obstet Gynecol (2013)

The following case report describes a rare case of omental pregnancy in a fertile 34-year-old woman at 5 + 3 weeks of gestation who presented with abdominal pain. Clinical examination, vital signs, and laboratory values were within normal limits, so the woman was hospitalized and monitored. Laparoscopic exploration was performed according to the preoperative diagnosis of tubal pregnancy, but it showed normal pelvic organs. In view of the growth of the β-HCG value, a medical approach was attempted, without success. Due to hemodynamic instability, an emergency laparotomy was performed, and it showed an omental pregnancy, confirmed at the pathological examination.
Congenital Uterovaginal Prolapse in a Newborn
Authors: Zenebe Wolde Jijo, Million Teshome Betele, Abdurazak Shemolo Ali
Journal: Case Rep Obstet Gynecol (2018)
MeSH terms: Case Reports

Background:
Uterovaginal prolapse is a rare condition in newborns which is usually associated with spinal cord defects. It is usually diagnosed at birth. Different treatment options have been proposed for genital prolapse in newborns. Most of the treatment options recommended are conservative; radical approach is rarely suggested for the treatment of these cases.
Case details:
We report a 6-hour-old newborn that was diagnosed to have congenital uterovaginal prolapse and was successfully managed conservatively with digital reduction of the mass and strapping of both legs together.
Conclusion:
Congenital uterovaginal prolapse in newborns can be managed conservatively with simple digital reduction followed by strapping of the legs together; this approach is simple and cost-effective and has no associated complications.
An abrupt bleeding of the anteriorly- displaced sigmoid sinus: a rare complication of myringoplasty
Authors: Sarah Zaher Addeen, Mohammad Al-Mohammad
Journal: BMC Ear Nose Throat Disord (2017)
Keywords: abnormally displaced, anatomical variation, anterior course, myringoplasty, sigmoid sinus
MeSH terms: Case Reports

Background:
The location of the sigmoid sinus within the mastoid cavity is quite variable. An anteriorly- displaced vertical segment of the sigmoid sinus constitutes an uncommon but dangerous anatomical variation that surgeons rarely encounter during surgery. In this variation, the sigmoid sinus lays underneath a very thin bony flap, which makes it easily damaged. Thus, an abrupt fatal bleeding might occur. Despite the many hypotheses about its origin (Chronic otitis media, hypopneumatization, etc.), the pathogenesis of this variation is still not completely understood.
Case presentation:
We present a case where the vertical segment of the left sigmoid sinus was encountered just underneath a one- millimeter bony flap in the posterior wall of the external auditory canal during an attempted myringoplasty.
Conclusion:
Anatomical variations of the sigmoid sinus are not uncommon, and the otolaryngologist should be aware of such variations to prevent unpleasant, intra- operative surprises.
Sodium Taurocholate Cotransporting Polypeptide (NTCP) Deficiency Hidden Behind Citrin Deficiency in Early Infancy: A Report of Three Cases
Authors: Hui Lin, Jian-Wu Qiu, Yaqub-Muhammad Rauf, Gui-Zhi Lin, Rui Liu, Li-Jing Deng, Mei Deng, Yuan-Zong Song
Journal: Front Genet (2019)
Keywords: slc10a1, slc25a13, child, cholestasis, citrin deficiency, sodium taurocholate cotransporting polypeptide deficiency, variant
MeSH terms: Case Reports

Sodium taurocholate cotransporting polypeptide (NTCP), a carrier protein encoded by the gene SLC10A1, is expressed in the basolateral membrane of the hepatocyte to uptake bile acids from plasma. As a new inborn error of bile acid metabolism, NTCP deficiency remains far from being well understood in terms of the clinical and molecular features. Citrin deficiency is a well-known autosomal recessive disease arising from SLC25A13 mutations, and in neonates or infants, this condition presents as transient intrahepatic cholestasis which usually resolves before 1 year of age. All the three patients in this paper exhibited cholestatic jaundice and elevated total bile acids in their early infancy, which were attributed to citrin deficiency by SLC25A13 genetic analysis. In response to feeding with lactose-free and medium-chain triglycerides-enrich formula, their clinical and laboratory presentations disappeared gradually while the hypercholanemia persisted, even beyond 1 year of age. On subsequent SLC10A1 analysis, they were all homozygous for the well-known pathogenic variant c.800C > T (p.Ser267Phe), and NTCP deficiency was thus definitely diagnosed. The findings in this paper indicated that NTCP deficiency could be covered up by citrin deficiency during early infancy; however, in citrin-deficient patients with intractable hypercholanemia following resolved cholestatic jaundice, NTCP deficiency should be taken into consideration.
Tympanic paragangliomas: case reports
Authors: Maria Eugênia L R B de V Neto, Isabela M de Vuono, Luiz R O Souza, José R G Testa, Gilberto U Pizarro, Fernando Barros
Journal: Braz J Otorhinolaryngol (2005)
MeSH terms: Ear Neoplasms / pathology, Ear, Middle / pathology, Glomus Tympanicum Tumor / pathology, Case Reports, Ear Neoplasms / surgery, Ear, Middle / surgery, Female, Glomus Tympanicum Tumor / surgery, Humans, Magnetic Resonance Imaging, Middle Aged, Tinnitus / pathology, Tomography, X-Ray Computed

Glomus tumors, also called paragangliomas, originate from nonchromaffin cells. The tumor is typically vascular and grows from capillary and pre-capillary vessels in-between epithelial cells. It is worth mentioning that the most common symptoms are pulsating tinnitus and hearing loss. Imaging studies (CT and MRI) are necessary for diagnosis. This paper shows five patients seen at the Hospital between 1995 and 2001 presenting glomus tympanicum. Women were most commonly affected, and the age ranged from 48 to 60 years (mean age of 50 years). The most common complaints were pulsating tinnitus and hearing loss. All patients were treated surgically.
Covid-19 and Families With Parental Mental Illness: Crisis and Opportunity
Authors: Mairead Furlong, Sinead McGilloway, Christine Mulligan, Mary G Killion, Sharon McGarr, Anne Grant, Gavin Davidson, Mary Donaghy
Journal: Front Psychiatry (2021)
Keywords: covid-19, children, family, mental disorder, mental health, mental illness, pandemic, parents

The COVID-19 emergency has affected us all, but not equally. Families where parents have mental illness (PMI) are potentially at increased risk, but little is known about how they or their support services managed under lockdown/restrictions. We harnessed our existing partnerships with adult and child mental health services in the Republic of Ireland (RoI) and Northern Ireland (NI) to investigate the qualitative experiences of service users and families in coping during the first COVID-19 lockdown (March-May 2020), and how services were supporting them. Semi-structured phone/online interviews were conducted with 22 clinicians/managers (12 from RoI; 10 from NI) who provided information from their caseloads (~155 families with PMI). Sixteen family members (10 from RoI, 6 from NI) were also interviewed. Data were analysed using standard thematic analysis. Sixty percent of families reported improved mental health, primarily due to respite from daily stresses and the "normalisation" of mental distress in the general population. Approximately 30%, typically with more severe/enduring mental illness, reported additional challenges, and mental distress including: unmanageable child behaviours; fear of relapse/hospitalisation; financial difficulties; absence of child care; and a lack of routines. Service provision varied considerably across regions. The experiences within this case study highlight unique opportunities to address the multiple stresses of pre-emergency daily living. We also highlight how mental health services and governments might become more "pandemic ready" to more effectively support vulnerable families, including addressing service overload issues, optimising the use of digital technologies, and providing in-person contact and social supports where required.
Challenges faced by the HIV testing system in low- and middle-income countries
Authors: Rachel S Kamgaing, Yagai Bouba, Samuel M Sosso, Jeremiah E Gabisa, Aubin Nanfack, Joseph Fokam, Laure Ngono, Nadine Fainguem, Michel C T Tommo, Krystel N Zam, Junie F Yimga, Désiré K Takou, Alexis Ndjolo
Journal: Afr J Lab Med (2023)
Keywords: cameroon, hiv diagnosis, hiv testing system, algorithm, counselling, testing technologies
MeSH terms: Case Reports

Introduction:
Determining the HIV status of some individuals remains challenging due to multidimensional factors such as flaws in diagnostic systems, technological challenges, and viral diversity. This report pinpoints challenges faced by the HIV testing system in Cameroon.
Case presentation:
A 53-year-old male received a positive HIV result by a rapid testing algorithm in July 2016. Not convinced of his HIV status, he requested additional tests. In February 2017, he received a positive result using ImmunoComb® II HIV 1 & 2 BiSpot and Roche cobas electrochemiluminescence assays. A sample sent to France in April 2017 was positive on the Bio-Rad GenScreen™ HIV 1/2, but serotyping was indeterminate, and viral load was < 20 copies/mL. The Roche electrochemiluminescence immunoassay and INNO-LIA HIV I/II Score were negative for samples collected in 2018. A sample collected in July 2019 and tested with VIDAS® HIV Duo Ultra enzyme-linked fluorescent assay and Geenius™ HIV 1/2 Confirmatory Assay was positive, but negative with Western blot; CD4 count was 1380 cells/mm3 and HIV proviral DNA tested in France was 'target-not-detected'. Some rapid tests were still positive in 2020 and 2021. Serotyping remained indeterminate, and viral load was 'target-not-detected'. There were no self-reported exposure to HIV risk factors, and his wife was HIV-seronegative.
Management and outcome:
Given that the patient remained asymptomatic with no evidence of viral replication, no antiretroviral therapy was initiated.
Conclusion:
This case highlights the struggles faced by some individuals in confirming their HIV status and the need to update existing technologies and develop an algorithm for managing exceptional cases.