OpenMed/multicare-articles huggingface dataset:
Unique Combination of Diamond-Blackfan Anemia and Lynch Syndrome in Adult Female: A Case Report
Authors: Aleksey S Tsukanov, Dmitriy Y Pikunov, Vitaly P Shubin, Aleksey A Barinov, Vladimir N Kashnikov, Yuri A Shelygin, Andrey D Kaprin, Elena V Filonenko, Dmitriy V Sidorov, Aleksey A Maschan, Galina A Novichkova, Liudmila A Yasko, Elena V Raykina, Aleksandr G Rumyantsev
Journal: Front Oncol (2021)
Keywords: diamond–blackfan anemia, lynch syndrome, ngs, acgh, colorectal cancer, endometrial cancer, microsatellite instability
MeSH terms: Case Reports

We present an extremely rare clinical case of a 38-year-old Russian patient with multiple malignant neoplasms of the uterus and colon caused by genetically confirmed two hereditary diseases: Diamond-Blackfan anemia and Lynch syndrome. Molecular genetic research carried out by various methods (NGS, Sanger sequencing, aCGH, and MLPA) revealed a pathogenic nonsense variant in the MSH6 gene: NM_000179.2: c.742C>T, p.(Arg248Ter), as well as a new deletion of the chromosome 15's locus with the capture of 82,662,932-84,816,747 bp interval, including the complete sequence of the RPS17 gene. The lack of expediency of studying microsatellite instability in endometrial tumors using standard mononucleotide markers NR21, NR24, NR27, BAT25, BAT26 was demonstrated. The estimated prevalence of patients with combination of Diamond-Blackfan anemia and Lynch syndrome in the world is one per 480 million people.
Ingested Foreign Body Migration to the Liver: An Unusual Cause of Persistent Abdominal Pain in a 54-Year-Old Female
Authors: Alan Lucerna, James Espinosa, Kelly Schuitema, Risha Hertz
Journal: Case Rep Emerg Med (2018)
MeSH terms: Case Reports

Abdominal pain is a common presentation in emergency medicine. We describe the case of a 54-year-old female who presented to the emergency department due to worsening abdominal pain. She had a history of right upper quadrant (RUQ) abdominal pain that had been ongoing for several months. The pain had been thought by the primary care team to be related to gastritis and she had been prescribed a proton pump inhibitor (PPI). Her abdominal pain increased in the three days prior to her presentation to the emergency department (ED). The computed tomography (CT) scan of the abdomen showed a foreign body (FB) in the liver which was successfully removed surgically. Pathology results showed that the FB was consistent with a small bone fragment. Ingestions of FB are common but seldom result in complications. When complications do arise, perforation of a hollow viscous is typically seen. Rarely, transmigration of the FB can occur.
Leptomeningeal Metastatic L858R EGFR-mutant Lung Cancer: Prompt Response to Osimertinib in the Absence of T790M-mutation and Effective Subsequent Pulsed Erlotinib
Authors: Aladdin Kanbour, Faroug Salih, Wafa Abualainin, Mohamed Abdelrazek, Lajos Szabados, Issam Al-Bozom, Nabil E Omar
Journal: Onco Targets Ther (2022)
Keywords: egfr, egfr tyrosine kinase inhibitors, egfr-tkis, lmc, nsclc, epidermal growth factor receptor, leptomeningeal carcinomatosis, non-small-cell lung cancer, osimertinib, pulsed erlotinib
MeSH terms: Case Reports

Leptomeningeal carcinomatosis (LMC) is a known sequel of metastatic lung cancer and its treatment is challenging. Nevertheless, treatment options for LMC due to metastatic epidermal growth factor receptor-mutant (EGFR-mutant) lung adenocarcinoma are expanding. We present a 52-year-old male patient with metastatic non-small-cell lung cancer (NSCLC). The patient was found to have L858R mutation in exon 21 of the EGFR gene. He was initially treated with erlotinib, followed by afatinib/cetuximab, followed by chemotherapy. Thereafter, his disease progressed to LMC. Although tissue biopsy did not show T790M-mutation, osimertinib (160 mg once daily) promptly induced clinical and radiological response that continued for five months. High dose pulsed erlotinib (1500 mg weekly) improved his quality of life and extended his survival for a further four months.
Undiagnosed patent foramen ovale presenting as retinal artery occlusion-an emerging association
Authors: Hiten G Sheth, Tania Laverde-Konig, Jyoti Raina
Journal: J Ophthalmol (2009)
MeSH terms: Case Reports

Purpose. To report patent foramen ovale (PFO) as the cause of retinal artery occlusion in a young and previously fit male and discuss the appropriate medical and surgical management options. Methods. Interventional case report with serial fundus photographs of an 18-year-old male presenting to the eye casualty with sudden onset left visual loss. Results. Visual acuities were 6/24 left and 6/4 right with a left afferent pupillary defect. Slitlamp examination confirmed a left hemiretinal artery occlusion and subsequent cardiology review with transoesophageal echocardiography revealed patent foramen ovale which was closed surgically. Conclusions. PFO is not uncommon and is often covert but predisposes individuals to embolic events. These events may be ophthalmic with visual sequelae and so ophthalmologists, physicians, and other healthcare personnel should be aware of this important and emerging association.
A Young Male with Severe Myocarditis and Skeletal Muscle Myositis
Authors: Abdalla Ibrahim, Eoghan Meagher, Alexander Fraser, Thomas J Kiernan
Journal: Case Rep Cardiol (2018)
MeSH terms: Case Reports

A 34-year-old male presented with retrosternal chest pain, fatigue, shortness of breath, and a history of a previous episode of myocarditis four years prior. He had elevated troponin T, normal skeletal muscle enzymes, and negative inflammatory markers. Cardiac magnetic resonance imaging (MRI) confirmed active myocarditis with extensive myocardial fibrosis and normal left ventricular ejection fraction (LVEF). His myocarditis symptoms resolved with steroids and anti-inflammatory treatment, but on closer questioning, he reported a vague history of long-standing calf discomfort associated with episodes of stiffness, fatigue, and flu-like symptoms. MRI of the lower legs consequently demonstrated active myositis in the calf muscles. Immunomodulatory therapy was commenced with good effect. The patient is undergoing regular follow-up in both cardiology and rheumatology outpatient departments. Repeated MRI of the legs showed significant interval improvement in his skeletal muscle myositis, and repeat cardiac MRI demonstrated the resolution of myocarditis along with persistent stable extensive myocardial fibrosis and preserved LVEF. The patient has returned to full-time work.
Inner Retinal Dysfunction in the Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
Authors: François-Xavier Borruat, Graham E Holder, Fion Bremner
Journal: Front Neurol (2017)
Keywords: charlevoix-saguenay, on− bipolar cells, autosomal recessive spastic ataxia of charlevoix-saguenay, electronegative electroretinography, erg, foveal hypoplasia, optical coherence tomography, peripapillary retinal nerve fiber layer thickening
MeSH terms: Case Reports

The autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is associated with structural retinal abnormalities either directly visible on funduscopy or revealed by optical coherence tomography (OCT). Most patients with ARSACS have a whitish peripapillary appearance corresponding to a thickening of the peripapillary retinal nerve fiber layer. OCT has also shown an absence of the physiological foveal depression. Abnormal electroretinography (ERG) has previously been reported in only two cases, without further details. This report describes a patient with ARSACS in whom careful full-field ERG revealed dysfunction of the retinal On- bipolar cells with sparing of photoreceptor function. This is the first report of inner retinal dysfunction in ARSACS.
The Wolf Hidden behind the Clots: Catastrophic Antiphospholipid Antibody Syndrome
Authors: Myat Han Soe, Krishna Adit Agarwal, Alueshima Akough-Weir
Journal: Case Rep Med (2018)
MeSH terms: Case Reports

Catastrophic antiphospholipid syndrome (CAPS) is a rare but highly fatal clinical syndrome that occurs in up to 1% of patients with antiphospholipid syndrome (APS). The diagnosis of CAPS is often delayed because its presentation with multiple organ thromboses can be confused with other thrombotic microangiopathies and severe sepsis. We report a case of CAPS in a patient with APS and systemic lupus erythematosus (SLE) presenting with thrombotic storm precipitated by trauma, cytomegalovirus (CMV) infection, and noncompliance with anticoagulation therapy. Our case reflects the "two-hit hypothesis" of APS in which the presence of antiphospholipid antibodies (first hit) increases the thrombophilic risk, and thromboses take place in the presence of another thrombophilic condition such as CMV infection in our case. In this case review, we discuss the diagnostic challenges and management of CAPS. In clinical practice, we aim to stress the importance of thorough evaluation and management of precipitating events such as infections in addition to timely diagnosis and treatment of this catastrophic clinical entity.
Initial presentation of acute lymphoblastic leukemia with osteoporosis and multiple spontaneous bone fractures
Authors: N Cohan, S Sarikhani, S Moslemi, M Karimi
Journal: Iran Red Crescent Med J (2011)
Keywords: acute lymphoblastic leukemia, bone fracture, iran, osteoporosis
MeSH terms: Case Reports

Acute lymphoblastic leukemia (ALL) is the most common childhood malignancy. Skeletal abnormalities have been described in association with ALL including osteoprosis and bone fractures. Different factors including the disease itself or soluble products of malignant cells and treatment agents like cytotoxic drugs, methotroxate, corticosteroids and radiotherapy may be responsible for defective bone homeostasis in these patients. Orthopedic conditions and pain may be the first manifestation of acute leukemia and it is important for physicians to recognize the skeletal manifestation of acute childhood leukemia because of a delay in diagnosis has adverse effect on survival. We present a child with ALL that refer with multi bone fractures as a first manifestation of the disease.
Acute Right Lower Abdomen in a Patient with a History of Gastrointestinal Stromal Tumor
Authors: Dabanjan Bandyopadhyay, Hugo J R Bonatti
Journal: Case Rep Surg (2019)
MeSH terms: Case Reports

Background:
Gastrointestinal stromal tumor (GIST) is an uncommon tumor of the GI tract usually seen in elderly patients, often difficult to diagnose because of the unspecific symptoms such as abdominal pain and fullness. Recurrent GIST may have an even more obscure clinical presentation.
Case report:
A 44-year-old female with a history of surgically treated GIST presented to the emergency room complaining of acute onset sharp RLQ pain, nausea, and vomiting. Clinically, she had RLQ tenderness with rebound, her WBC was elevated, and CT scan showed signs of appendicitis and also soft tissue masses suspicious for malignancy. After contemplating treatment options including antibiotics and further workup, it was recommended to proceed with surgery. Laparoscopy showed a thickened appendix with nodular infiltration and multiple mass-like lesions in the RLQ not amendable to minimal invasive resection. From a lower midline incision, an open appendectomy and excision of multiple masses in the terminal ileum and in the abdominal wall were done. Narrow-based Meckel's diverticulum with multiple nodular lesions was also removed. Pathology identified appendicitis and serosal involvement of GIST in all specimens staining positive for CD68, CD117, and vimentin. The patient was started on imatinib and remained recurrence-free after 6 months.
Conclusions:
This case illustrates a rare presentation of acute symptomatic recurrent metastatic GIST. Our patient was unusually young, and GIST recurrence presented with acute RLQ pain suggestive for acute appendicitis and also involved Meckel's diverticulum. Surgical debulking followed by imatinib seems to be a reasonable approach in such cases.
Use of the anterolateral thigh in cranio-orbitofacial reconstruction
Authors: William J Parkes, Howard Krein, Ryan Heffelfinger, Joseph Curry
Journal: Plast Surg Int (2011)

Objective. To detail the clinical outcomes of a series of patients having undergone free flap reconstruction of the orbit and periorbita and highlight the anterolateral thigh (ALT) as a workhorse for addressing defects in this region. Methods. A review of 47 patients who underwent free flap reconstruction for orbital or periorbital defects between September 2006 and May 2011 was performed. Data reviewed included demographics, defect characteristics, free flap used, additional reconstructive techniques employed, length of stay, complications, and follow-up. The ALT subset of the case series was the focus of the data reviewed for this paper. Selected cases were described to highlight some of the advantages of employing the ALT for cranio-orbitofacial reconstruction. Results. 51 free flaps in 47 patients were reviewed. 38 cases required orbital exenteration. The ALT was used in 33 patients. Complications included 1 hematoma, 2 wound infections, 3 CSF leaks, and 3 flap failures. Conclusions. Free tissue transfer allows for the safe and effective reconstruction of complex defects of the orbit and periorbital structures. Reconstructive choice is dependent upon the extent of soft tissue loss, midfacial bone loss, and skullbase involvement. The ALT provides a versatile option to reconstruct the many cranio-orbitofacial defects encountered.
Case report of a child with influenza and fatal community-associated methicillin-resistant Staphylococcus aureus sepsis
Authors: Bruno Cruz Boettger, Thais Freitas Teles Rezende, Nathalia Bibiana Teixeira, Antonio Carlos Campos Pignatari, Carlos Roberto Veiga Kiffer
Journal: Rev Soc Bras Med Trop (2020)
MeSH terms: Influenza, Human / diagnosis, Methicillin-Resistant Staphylococcus aureus, Shock, Septic / microbiology, Staphylococcal Infections / microbiology, Case Reports, Fatal Outcome, Humans, Infant, Influenza, Human / complications, Shock, Septic / complications, Staphylococcal Infections / complications, Staphylococcal Infections / diagnosis

In the present study, we report the incidence of septic shock syndrome associated with methicillin-resistant Staphylococcus aureus in a child who initially presented influenza-like illness and developed septic shock shortly after 48 h of hospitalization, and eventually died within a few hours of the onset of sepsis. S. aureus isolated from the blood culture was characterized as the community-associated strain carrying the staphylococcal cassette chromosome mec (SCCmec) type IV element. Therefore, it is important to better understand the community-associated methicillin-resistant Staphylococcus aureus (CA-MRSA) infections and their potential association with influenza for early diagnosis and successful treatment of this fatal disease.
Systemic embolism and septic shock complicated left atrial myxoma: case report
Authors: B Trimeche, H Bouraoui, R Garbaa, A Mahdhaoui, M Ben Rhomdane, S Ernez-Hajri, G Jeridi
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

Myxoma is the most common primary tumor of the heart. The rarity of infected cardiac myxomas leads to numerous diagnostic and therapeutic difficulties. We present a case of infected left atrial myxoma caused by methicillin-sensible Staphylococcus aureus in a 48-year-old woman complicated by systemic embolism and septic shock.
Chylothorax following transsternal total thymectomy: a case report
Authors: Fumiaki Kato, Masaki Tomita, Kohei Shimmura, Hideyuki Yoshizumi, Toshihiko Sato
Journal: J Surg Case Rep (2023)
Keywords: chylothorax, post-operative, thymectomy
MeSH terms: Case Reports

Herein, we report a case of chylothorax following total thymectomy. A 46-year-old woman having an anterior mediastinal tumor underwent a thymectomy via median sternotomy. Seven days after surgery, there was no massive pleural effusion. However, on post-operative day 17, a right massive pleural effusion was detected, and it was diagnosed as chylothorax. She was successfully treated with conservative therapy. Chylothorax following thymectomy is a very rare complication.
Case Report: Extraskeletal osteosarcoma with preceding myositis ossificans
Authors: Hiroki Imada, Tomoaki Torigoe, Yasuo Yazawa, Satoshi Kanno, Jiro Ichikawa, Takehiko Yamaguchi, Tomonori Kawasaki
Journal: Front Oncol (2023)
Keywords: usp6, extraskeletal osteosarcoma, high-grade sarcoma, malignant transformation, myositis ossificans
MeSH terms: Case Reports

Extraskeletal osteosarcoma (EO) is a soft tissue sarcoma characterized by the production of bone matrix by neoplastic cells. Benign osteoid in EO, leading to a diagnostic dilemma, is rarely encountered. Herein, for the first time, we present a case with cytogenetically confirmed EO combined with or preceding myositis ossificans (MO). A 21-year-old man had a mildly painful swelling in his left knee. Imaging studies demonstrated a 39-mm mass with peripheral mineralization and cystic change on the posterolateral side of the left fibular head. He was clinically suspected of having either MO or a malignancy, such that wide resection was performed. Macroscopically, the mass was grayish to brown. In the cut section, multiple cystic lesions in addition to solid components were noted. Histopathologically, the solid components demonstrated diffuse proliferation of pleomorphic tumor cells with osteoclast-like giant cells. The malignant tumor cells formed osteoid. In the periphery, the mass was benign, showing mature bone tissue and focally non-malignant woven bone with fibroblasts, compatible with zonation. Fluorescence in situ hybridization (FISH) demonstrated split signals of the USP6 gene. These findings suggested EO with preceding MO. Although the pathogenesis remains to be elucidated, the observed USP6 rearrangement might contribute to both the diagnosis of EO with preceding MO and an understanding of the underlying histopathology.
Surgical Repair of Acetabular Fracture Using Unidirectional Porous β-Tricalcium Phosphate
Authors: Hiroshi Kumagai, Masashi Iwasashi, Toru Funayama, Satoshi Nakamura, Hiroshi Noguchi, Masao Koda, Masashi Yamazaki
Journal: Case Rep Orthop (2019)
MeSH terms: Case Reports

We report a case of an acetabular fracture treated using a unidirectional porous β-tricalcium phosphate artificial bone (Affinos®) to surgically repair bone defects. An 82-year-old man sustained an acetabular fracture on the left side and presented with shock on arrival along with impaired vital signs and systolic blood pressure. Upon stabilization, we performed an open reduction and internal fixation. However, there were significant bone defects, which were then fixed using Affinos® (both blocks and granules), an artificial β-tricalcium phosphate bone with a porosity of 57% (pore size: 25-300 μm), characterized by a novel unidirectional porous structure. By 18 months postoperatively, the patient was able to perform stair climbing and absorption and bone fusion around the artificial bone were observed. Affinos® has a frost-like structure, which endows it with good tissue-invasive properties because of the capillary effect. Moreover, it has excellent osteoconduction capability. In this case, both Affinos® blocks and granules showed good affinity, absorption, and bone substitution. Further prospective studies are required to confirm our findings.
HIV Clinical Pathway: A New Approach to Combine Guidelines and Sustainability of Anti-Retroviral Treatment in Italy
Authors: Davide Croce, Adriano Lazzarin, Giuliano Rizzardini, Nicola Gianotti, Francesca Scolari, Emanuela Foglia, Elisabetta Garagiola, Elena Ricci, Teresa Bini, Tiziana Quirino, Paolo Viganò, Tiziana Re, Antonella D'Arminio Monforte, Paolo Bonfanti
Journal: PLoS One (2016)
MeSH terms: Anti-HIV Agents / therapeutic use, Critical Pathways, Guidelines as Topic, HIV Infections / drug therapy, HIV-1 / isolation & purification, Health Plan Implementation, Patient Compliance, Multicenter Study, Observational Study, Adult, Anti-HIV Agents / economics, Female, HIV Infections / economics, HIV Infections / virology, HIV-1 / genetics, Humans, Male, Middle Aged, Prospective Studies, RNA, Viral / genetics, Viral Load, Anti-HIV Agents, RNA, Viral

The present article describes the case study of a "real world" HIV practice within the debate concerning the strategic role of Clinical Governance (CG) tools in the management of a National Healthcare System's sustainability. The study aimed at assessing the impact of a Clinical Pathway (CP) implementation, required by the Regional Healthcare Service, in terms of effectiveness (virological and immunological conditions) and efficiency (economic resources absorption), from the budget holder perspective. Data derived from a multi-centre cohort of patients treated in 6 Hospitals that provided care to approximately 42% of the total HIV+ patients, in Lombardy Region, Italy. Two phases were compared: Pre-CP (2009-2010) vs. Post-CP implementation (2011-2012). All HIV infected adults, observed in the participating hospitals during the study periods, were enrolled and stratified into the 3 categories defined by the Regional CP: first-line, switch for toxicity/other, and switch for failure. The study population was composed of 1,284 patients (Pre-CP phase) and 1,135 patients (Post-CP phase). The results showed that the same level of virological and immunological effectiveness was guaranteed to HIV+ patients: 81.2% of Pre-CP phase population and 83.2% of Post-CP phase population had undetectable HIV-RNA (defined as <50 copies/mL) at 12-month follow up. CD4+ cell counts increased by 28 ± 4 cells/mm3 in Pre-CP Phase and 39 ± 5 cells/mm3 in Post-CP Phase. From an economic point of view, the CP implementation led to a substantial advantage: the mean total costs related to the management of the HIV disease (ART, hospital admission and laboratory tests) decreased (-8.60%) in the Post-CP phase (p-value < 0.0001). Results confirmed that the CP provided appropriateness and quality of care, with a cost reduction for the budget holder.
Severe Human Intestinal Spirochetosis: An Unusual Cause of Diffuse Colonic Ulcerations in a Patient Living with HIV
Authors: T A Ajose, J Aniekwena, V S Effoe, M Simien
Journal: Case Rep Gastrointest Med (2019)
MeSH terms: Case Reports

We describe a case of a homosexual male with human immunodeficiency virus (HIV) and CD4 count of 246 presenting with acute severe bloody diarrhea. Infectious work up was negative, and colonoscopy revealed severe diffuse colonic ulcerations. Histopathologic analysis and Treponemal pallidum immunostaining confirmed the diagnosis of intestinal spirochetosis. There was no evidence of co-infection with other pathogens. His symptoms completely resolved after a 14-day course of metronidazole. This case is notable as colonic ulceration of any severity in patients living with HIV is rarely identified with intestinal spirochetosis. Hence, it should be considered in the differential diagnosis of colonic ulcerations.