OpenMed/multicare-articles huggingface dataset:
Muscle Weakness: A Misleading Presentation in Children With Distinctive Syndromic Entities (Clinical Case Reports)
Authors: Ali Al Kaissi, Sergey Ryabykh, Polina Ochirova, Vladimir Kenis, Jochen G Hofstätter, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher
Journal: J Investig Med High Impact Case Rep (2017)
Keywords: 47,xxy (aneuploidy of klinefelter syndrome), wisp 3 gene mutation, mutations in the n-acetylgalactosamine-sulfate sulfatase gene (galns gene), myopathy, progressive pseudorheumatoid arthritis

Marked ligamentous hyperlaxity and muscle weakness/wasting associated with awkward gait are the main deficits confused with the diagnosis of myopathy. Seven children (6 boys and 1 girl with an average age of 8 years) were referred to our department because of diverse forms of skeletal abnormalities. No definitive diagnosis was made, and all underwent a series of sophisticated investigations in other institutes in favor of myopathy. We applied our methodology through the clinical and radiographic phenotypes followed by targeted genotypic confirmation. Three children (2 boys and 1 girl) were compatible with the diagnosis of progressive pseudorheumatoid chondrodysplasia. The genetic mutation was correlated with the WISP 3 gene actively expressed by articular chondrocytes and located on chromosome 6. Klinefelter syndrome was the diagnosis in 2 boys. Karyotyping confirmed 47,XXY (aneuploidy of Klinefelter syndrome). And 2 boys were finally diagnosed with Morquio syndrome (MPS type IV A) as both showed missense mutations in the N-acetylgalactosamine-sulfate sulfatase gene. Misdiagnosis can lead to the initiation of a long list of sophisticated investigations.
Giant organ confined prostatic adenocarcinoma: a case report
Authors: Jamin V Brahmbhatt, Louis S Liou
Journal: J Med Case Rep (2008)

Introduction:
Giant prostatic adenocarcinoma represents a rare and challenging treatment dilemma.
Case presentation:
We describe a case of an otherwise healthy 71-year-old African male who presented with a PSA of 5800 ng/ml and a prostate volume of over 1000cc. Unique aspects of this case include the size of the prostate, the apparent absence of distant metastases, and the safe usage of transabdominal biopsy of this mass.
Conclusion:
We present this case report and review of literature to generate further discussion amongst readers as to management options for this difficult case.
Neonatal neuroblastoma with inferior vena cava syndrome
Authors: Serdar Alan, Ufuk Cakir, Dilek Kahvecioglu, Zulfikar Gordu, Omer Erdeve, Handan Dincaslan, Begum Atasay, Serdar Beken, Gulsan Yavuz, Saadet Arsan
Journal: APSP J Case Rep (2013)
Keywords: inferior vena cava syndrome, neuroblastoma, newborn
MeSH terms: Case Reports

Neuroblastoma (NBL) is a neuroectodermal tumor derived from neural crest cells. The biological and clinical behavior of NB is extremely heterogenous. We here report a newborn who presented as 4S NBL with a massive hepatomegaly resulting in IVC syndrome.
Humerus Diaphysis Fracture in a Newborn during Vaginal Breech Delivery
Authors: Baris Kaya, Korkut Daglar, Ayse Kirbas, Abdullah Tüten
Journal: Case Rep Obstet Gynecol (2015)

While most obstetricians are familiar with fracture of the clavicle in newborns during birth, an unlucky minority of obstetricians has encountered long-bone fractures in newborns as well. This complication is traumatic not only for the neonate, but also for the family and the obstetrician; it is also difficult to explain. Fortunately, the long-term prognosis for fracture of the long bones is excellent. Both vaginal and cesarean breech deliveries and maneuvers can be responsible for birth traumas, including long-bone fractures. This case report presents a newborn with breech presentation delivered vaginally that resulted in humerus diaphysis fracture.
The eye in the neck: removal of a sewing needle from the posterior pharyngeal wall
Authors: Samit N Unadkat, Rishi Talwar, Neil Tolley
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Foreign body ingestion is a frequent presenting complaint to most emergency departments but the finding of a sewing needle in the posterior pharynx particularly is a rare finding. We report a case of a male patient with a sewing needle lodged in the posterior pharynx despite a history suggestive of chicken bone ingestion, absent clinical features, and negative flexible endoscopic examination. The needle was only identified through cervical spine radiographs. Even subsequent pharyngoscopy, laryngoscopy, and upper oesophagoscopy all proved to be unremarkable with the patient eventually requiring a left neck exploration to remove the needle. The case outlines the importance of simple radiography in suspected foreign body ingestion, even though clinical and endoscopic findings may be unremarkable.
A Lung Adenocarcinoma Patient With a Rare EGFR E709_T710delinsD Mutation Showed a Good Response to Afatinib Treatment: A Case Report and Literature Review
Authors: Yu Wei, Yueli Cui, Yao Guo, Lei Li, Liang Zeng
Journal: Front Oncol (2021)
Keywords: e709_t710insdeld, egfr mutation, nsclc, afatinib, exon 18
MeSH terms: Case Reports

For advanced lung adenocarcinoma patients with common epidermal growth factor receptor (EGFR) mutations (exon 19 deletions or the exon 21 L858R mutation), tyrosine kinase inhibitors (TKIs) are the standard therapies, and achieve favorable responses. However, for the rare EGFR deletion-insertion mutation of exon 18, there is no evidence of the efficacy of EGFR TKIs. Herein, we report a lung adenocarcinoma patient harboring a rare EGFR E709_T710delinsD mutation who was treated with afatinib as the first-line therapy and achieved a progression-free survival of 23 months. After the disease progressed, the patient received almonertinib treatment and exhibited a stable disease. This case indicated that non-small cell lung cancer patients harboring the EGFR E709_T710delinsD mutation could benefit from afatinib treatment, followed with almonertinib treatment, as a potential therapeutic strategy.
The Potential Innovative Use of Bacteriophages Within the DAC® Hydrogel to Treat Patients With Knee Megaprosthesis Infection Requiring "Debridement Antibiotics and Implant Retention" and Soft Tissue Coverage as Salvage Therapy
Authors: Tristan Ferry, Cécile Batailler, Charlotte Petitjean, Joseph Chateau, Cindy Fevre, Emmanuel Forestier, Sophie Brosset, Gilles Leboucher, Camille Kolenda, Frédéric Laurent, Sébastien Lustig
Journal: Front Med (Lausanne) (2020)
Keywords: bacteriophage, hydrogel, megaprosthesis, phage therapy, prosthetic joint infection
MeSH terms: Case Reports

Infection is the most dramatic complication in patients with knee megaprosthesis. Its management is more complex in comparison with patients with primary arthroplasty, with a high risk of relapse. Lytic bacteriophages are considered to have a high potential in patients with prosthetic joint infection as it has been demonstrated that they have a synergistic anti-biofilm activity with antibiotics. The Defensive Antibacterial Coating (DAC®) hydrogel is a hydrogel available in the market that has been designed to prevent the adherence of bacteria on a prosthetic joint and to have the ability to transport and release anti-bacterial substances such as antibiotics. We report here the case of a patient with a catastrophic relapsing Staphylococcus aureus knee megaprosthesis infection without prosthesis loosening. We firstly perform phage susceptibility testing of the patient's strain to select an active cocktail, under the supervision of the French health authority. Then, we performed, as salvage therapy, a debridement and implant retention procedure with application of a selected cocktail of bacteriophages that was prepared extemporaneously within the DAC® hydrogel. A free flap for soft tissue coverage was required and empirical antibiotic treatment was started immediately after the surgery. Unfortunately, at 5 days after the surgery, while the local aspect of the surgical site was favorable, the patient developed myocardial infarction which required emergency stenting and dual antiplatelet therapy that were rapidly associated with bleeding at the surgical site, leading to a new prosthesis exposition. As a consequence, a transfemoral amputation was finally performed several months later. We also evaluated in vitro the impact of DAC® hydrogel on bacteriophage activity and showed that the selected phages were released very rapidly from the DAC® hydrogel, and then their titers were stable for at least 6 h. This case demonstrated the feasibility of the use of bacteriophages within a hydrogel to treat patients for knee megaprosthesis infection during a debridement procedure. The implementation requires identification of the pathogen before the debridement in order to perform phage susceptibility testing of the patient's strain and to identify a hospital pharmacist who will accept to do the preparation and to take the responsibility of the magistral preparation.
Seven-year evaluation of idiopathic multiple retinal pigment epithelium detachments
Authors: Pawel Krasnicki, Diana Dmuchowska, Ewa Zukowska, Zofia Mariak
Journal: GMS Ophthalmol Cases (2016)
Keywords: oct, rpe detachments, multiple peds, multiple retinal pigment epithelium detachments
MeSH terms: Case Reports

Objective: To analyze a 7-year natural history of idiopathic multiple retinal pigment epithelium (RPE) detachment based on optical coherence tomography (OCT) images. Methods: Case report. SD-OCT imaging (Topcon 3D OCT-1000). Results: A 55-year-old female presented with three foci of pigment epithelium detachment (PED) in her left eye. Her past ophthalmic and medical history was uneventful. The patient's visual acuity in both eyes was 1.0 throughout the follow-up period. Fluorescein angiography images are shown. Corresponding OCT scans illustrate natural history of the PED foci and retinal structure of the left eye. PED number, location, shape, size and morphology were analyzed. Initially, the dimensions of PEDs were stable, but then a tendency to fluctuate or flatten was observed. Eventually, the lesions have resolved completely. Apart from the detachments, no other structural abnormalities of the retina were found. No PEDs, but sub-, para- and perifoveal RPE protrusions and defects were detected in the right eye. Conclusions: In the hereby presented case: 1. OCT proved to be suitable for diagnosis and monitoring of multiple PEDs. 2. Multiple idiopathic PEDs without involvement of the fovea were asymptomatic and regressed spontaneously. As such, they did not require any treatment. However, they were monitored due to potential risk for choroidal neovascularization or serous retinal detachment.
Cardiac Tamponade as an Initial Manifestation of Cervical Cancer
Authors: Yuridia Evangelina Rodríguez-Rosales, Carlos Eduardo Salazar-Mejía, Blanca Angélica Soto-Martínez, David Hernández-Barajas, Oscar Vidal-Gutiérrez, Gabriela Sofia Gómez-Macías
Journal: Case Rep Oncol Med (2019)
MeSH terms: Case Reports

Cervical cancer is the second most common malignancy worldwide in women and the third most common cause of cancer death in developing countries. This type of cancer spreads mainly to the lung, the bone, and the brain; however, the pericardium is an unusual site of invasion, which is associated with a poor prognosis. We present a case of a 35-year-old woman with six months of leg edema and abnormal uterine bleeding. During the initial evaluation, cardiac tamponade and a bilateral pleural effusion were found. A left supraclavicular lymphadenopathy was identified on physical examination, while gynecological examination and MRI were irrelevant. Initial cytology of the pericardial fluid showed a poorly differentiated carcinoma, and a cervical biopsy revealed a squamous cell invasive carcinoma. Chemotherapy was started with carboplatin and paclitaxel, but no clinical improvement was noted and the patient died 46 days after arrival. Cardiac tamponade in a young female patient is a harbinger to widen the differential diagnosis to include not only infectious, cardiac, or metabolic etiology but also oncological causes since this will allow appropriate treatment.
Complex Case Management of Mycobacterium Tuberculosis Extrapulmonary Manifestation to the Right Sacroiliac Joint
Authors: Xin Ran Li, Morgan Lucero, Abrahim N Razzak, Pinky Jha, Corrado Ugolini
Journal: Cureus (2023)
Keywords: anti-tuberculosis therapy, extrapulmonary tuberculosis, medication interaction, mycobacterium tuberculosis, sacroiliac infection, socioeconomic determinants
MeSH terms: Case Reports

While Mycobacterium tuberculosis is a common bacterial pathogen that infects the respiratory system, especially in endemic regions, it may uncommonly manifest in other organ systems, such as the nervous, gastrointestinal, or musculoskeletal systems. Sacroiliac joint infections are rare, and only 1%-5% of all infections are tuberculous in nature. Given nonspecific inflammatory signs in both laboratory and radiologic examinations, early identification of the causative agent can be difficult. In this report, we present the case of a 29-year-old Eritrean woman who presented with an uncommon extrapulmonary tuberculosis manifestation of the right sacroiliac joint. The patient reported pain for two years before a formal diagnosis with multiple computed tomography scans demonstrated fluid collections about her right hip and thigh. The patient's medical history of developmental delay, psychosis, outdated medication documentation, non-therapeutic use of numerous psychiatric medications contraindicated for traditional anti-tubercular therapy, and socioeconomic history of a lack of social support and treatment arrangements with the patient's caregiver all complicated the treatment course. Given the rise in tuberculosis cases worldwide and vulnerability factors in patients with mental illnesses such as poverty, homelessness, diabetes, and HIV infection that can predispose patients to tuberculosis infections, early diagnosis and treatment are essential to reduce long-term consequences and improve clinical outcomes. Further research in the development of new tuberculosis treatment plans is essential to addressing an equitable treatment course alongside fighting against the recent rise in drug-resistant tuberculosis.
Tuberculous prostatitis: mimicking a cancer
Authors: El Majdoub Aziz, Khallouk Abdelhak, Farih Moulay Hassan
Journal: Pan Afr Med J (2016)
Keywords: genitourinary tuberculosis, transrectal needle biopsy of the prostate, cancer, prostate
MeSH terms: Prostatic Neoplasms / diagnosis, Prostatitis / diagnosis, Tuberculosis, Male Genital / diagnosis, Case Reports, Biopsy, Needle / methods, Digital Rectal Examination, Humans, Male, Middle Aged, Prostatitis / microbiology, Prostatitis / pathology, Tuberculosis, Male Genital / pathology

Genitourinary tuberculosis is a common type of extra-pulmonary tuberculosis . The kidneys, ureter, bladder or genital organs are usually involved. Tuberculosis of the prostate has mainly been described in immune-compromised patients. However, it can exceptionally be found as an isolated lesion in immune-competent patients. Tuberculosis of the prostate may be difficult to differentiate from carcinoma of the prostate and the chronic prostatitis when the prostate is hard and nodular on digital rectal examination and the urine is negative for tuberculosis bacilli. In many cases, a diagnosis of tuberculous prostatitis is made by the pathologist, or the disease is found incidentally after transurethral resection. Therefore, suspicion of tuberculous prostatitis requires a confirmatory biopsy of the prostate. We report the case of 60-year-old man who presented a low urinary tract syndrome. After clinical and biological examination, and imaging, prostate cancer was highly suspected. Transrectal needle biopsy of the prostate was performed and histological examination showed tuberculosis lesions.
Chronic diarrhea and pancolitis caused by paracoccidioidomycosis: a case report
Authors: Eduar A Bravo, Arturo J Zegarra, Alejandro Piscoya, José L Pinto, Raúl E de Los Rios, Ricardo A Prochazka, Jorge L Huerta-Mercado, Nancy L Mayo, Martin Tagle
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

South American blastomycosis is a systemic micosis caused by infection with Paracoccidioides brasiliensis. The most frequently affected sites are the lower lip buccal mucous membrane, palate, tongue, sublingual region, lymph glands, and lungs. However, colonic involvement is not a common expression of Paracoccidioidomycosis. We report a case of chronic diarrhea and pancolitis caused by Paracoccidioidomycosis with fatal outcome.
Case report: recurrent abdominal symptoms in a child with panhypopituitarism - there is always a differential
Authors: Laura Olbrich, Eva Schmidt, Ertan Mayatepek, Markus Vogel
Journal: Int J Pediatr Endocrinol (2016)
Keywords: adrenal insufficiency, familial mediterranean fever, panhypopituitarism, recurrent abdominal pain
MeSH terms: Case Reports

Background:
We report the case of a 6 year old boy suffering from adenohypophysis aplasia as well as ectopic neurohypophysis and delayed diagnosis of familial Mediterranean fever (FMF).
Case presentation:
The boy was diagnosed with panhypopituitarism during the neonatal period and suffered from recurrent episodes during the following years suggesting infections. He also showed signs of adrenal insufficiency. Finally, at the age of 6 years, an additional diagnosis of familial Mediterranean fever (FMF) was clinically suspected and later confirmed by molecular analysis.
Conclusion:
The clinical pictures of panhypopituitarism and FMF can be overlapping. It is imperative to take a detailed and accurate history in order to find the right diagnosis, particularly a precise family history. In conditions like FMF an early diagnosis is crucial, as initiation of treatment with colchicine is important to prevent long-term complications due to amyloid fibril deposition.
Characterization of insulin antibodies by Surface Plasmon Resonance in two clinical cases: brittle diabetes and insulin autoimmune syndrome
Authors: Aldana Trabucchi, Ruben F Iacono, Luciano L Guerra, Natalia I Faccinetti, Andrea G Krochik, María C Arriazu, Edgardo Poskus, Silvina N Valdez
Journal: PLoS One (2013)
MeSH terms: Diabetes Mellitus, Type 1 / blood, Diabetes Mellitus, Type 1 / immunology, Insulin / immunology, Insulin Antibodies / blood, Surface Plasmon Resonance, Case Reports, Research Support, Non-U.S. Gov't, Adolescent, Aged, Autoantibodies / blood, Autoantibodies / immunology, Child, Female, Humans, Infant, Male, Autoantibodies, Insulin, Insulin Antibodies

In this study, the characterization of insulin (auto)antibodies has been described, mainly in terms of concentration (q), affinity (Ka) and Ig (sub)isotypes by Surface Plasmon Resonance (SPR) in two particular clinical cases of individuals with severe episodes of impaired glycemia. Subject 1 suffers from brittle diabetes associated with circulating insulin antibodies (IA) due to insulin treatment. Subject 2 has insulin autoantibodies (IAA) associated with hypoglycemia in spite of not being diabetic and not having ever received exogenous insulin therapy. After conventional screening for IA/IAA by radioligand binding assay (RBA), we further characterized IA/IAA in sera of both patients in terms of concentration (q), affinity (Ka) and Ig (sub)isotypes by means of SPR technology. In both cases, q values were higher and Ka values were lower than those obtained in type 1 diabetic patients, suggesting that IA/IAA:insulin immunocomplexes could be responsible for the uncontrolled glycemia. Moreover, subject 1 had a predominat IgG1 response and subject 2 had an IgG3 response. In conclusion, SPR technology is useful for the complete characterization of IA/IAA which can be used in special cases where the simple positive/negative determination is not enough to achieve a detailed description of the disease fisiopathology.
Omphalomesenteric duct remnant adenocarcinoma in adults: a case study
Authors: Bingchuan Zhou, Hao Lai, Yuan Lin, Xianwei Mo
Journal: Springerplus (2016)
Keywords: adenocarcinoma, omphalomesenteric duct remnant, vitelline duct

Introduction:
The omphalomesenteric duct (OMD) or the vitelline duct (VD) is the embryonic structure connecting the vitelline sac to the primitive gut. It undergoes obliteration at 5-9 weeks of gestation. Failure of this duct to close, which occurs in approximately 2% of the population, can lead to various types of VD residual diseases. A persistent OMD remnant is pathological, and it typically presents in the pediatric population. Meckel diverticulum is the most common anomaly that results from failure of resorption of the OMD. In extremely rare instances, OMD remnant adenocarcinomas have been reported in the adult population.
Case description:
In this study, we present a case of OMD remnant adenocarcinoma with axillary lymph node metastases in an adult male.
Discussion and evaluation:
Because OMD remnant adenocarcinoma is rare, few relevant studies have been reported. The final diagnosis of navel VD residual adenocarcinoma depends on postoperative pathology and immunohistochemical analysis. The follow-up treatment in OMD is similar to the chemotherapy regimens of postoperative gastrointestinal malignant tumors.
Conclusions:
In this report, the patient experienced no complications after surgery and was discharged on the seventh postoperative day, followed by 12 courses of postoperative FOLFOX6 scheme chemotherapy. By the end of chemotherapy, the patient had no evidence of recurrent disease and metastasis across the reexamination of PET-CT.
Case Report: Durable Response to Very Low Dose Tyrosine Kinase Inhibitors in Advanced Hepatocellular Carcinoma
Authors: Tin-Yun Tang, Katherine Daunov, Richard T Lee
Journal: Front Oncol (2021)
Keywords: cabozantinib, hepatocellular carcinoma (hcc), low dose, minimal effective dose, regorafenib, sorafenib
MeSH terms: Case Reports

The oral tyrosine kinase inhibitors (TKI) sorafenib, regorafenib, and cabozantinib are approved for advanced hepatocellular carcinoma (aHCC) and improve survival. However, patients on these medications frequently require dose reductions or discontinuation due to multiple side effects leading to poor tolerability. Here we report three different aHCC patients with clinical responses outlasting those reported in their corresponding Phase 3 clinical trials on 1/8th the target dose for sorafenib, 1/4th the target dose for regorafenib and 1/6th the target dose for cabozantinib respectively. As these doses are below the minimal recommended doses on the FDA labels, this case series provides a preliminary demonstration that low dose TKI therapy can be effective and patients on TKIs should first assess for clinical response before empirically discontinuing TKI therapy on the basis of tolerating only a low dose.