OpenMed/multicare-articles huggingface dataset:
A Rare Case of Pericardial Effusion in a Patient with Silicosis
Authors: Kosuke Saku, Keisuke Yamamoto, Hironori Inoue, Masahiro Ueno
Journal: Case Rep Cardiol (2019)
MeSH terms: Case Reports

Silicosis is an occupational lung disorder caused by inhalation of silica dust. It not only causes respiratory disorders but also affects other organs. We report an extremely rare case of silicosis complicated by pericarditis in an 83-year-old male. He had been working as a coal miner and was diagnosed with silicosis at the age of 63. Because he had experienced repeated pericardial effusions, he was referred for a surgical pericardial biopsy to elucidate the cause of his repeated pericardial effusion and to perform pericardial fenestration. Thoracoscopic surgery was performed. The pericardium was resected, and a drain was placed in the left thoracic cavity. Histopathological examination revealed the pericardial degeneration due to silicosis, suggesting that pericarditis and pericardial effusion are related to silicosis. The operation was successful, and he experienced no recurrence of pericardial effusion at the 7-month follow-up.
Case report: Cerebrotendinous xanthomatosis with a novel mutation in the CYP27A1 gene mimicking behavioral variant frontotemporal dementia
Authors: Min Young Chun, Nam Jin Heo, Sang Won Seo, Hyemin Jang, Yeon-Lim Suh, Ja-Hyun Jang, Young-Eun Kim, Eun-Joo Kim, So Young Moon, Na-Yeon Jung, Sun Min Lee, Hee Jin Kim
Journal: Front Neurol (2023)
Keywords: cyp27a1 gene mutation, behavioral variant frontotemporal dementia, case report, cerebrotendinous xanthomatosis, novel likely pathogenic variant
MeSH terms: Case Reports

Background:
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease caused by a mutation in the CYP27A1 gene. Due to the disruption of bile acid synthesis leading to cholesterol and cholestanol accumulation, CTX manifests as premature cataracts, chronic diarrhea, and intellectual disability in childhood and adolescence. This report presents a case of CTX with an unusual phenotype of behavioral variant frontotemporal dementia (bvFTD) in middle age.
Case presentation:
A 60-year-old woman presented with behavioral and personality changes. She showed disinhibition, such as hoarding and becoming aggressive over trifles; compulsive behavior, such as closing doors; apathy; and dietary change. The patient showed a progressive cognitive decline and relatively sparing memory and visuospatial function. She had hyperlipidemia but no family history of neurodegenerative disorders. Initial fluid-attenuated inversion recovery (FLAIR) images showed a high signal in the periventricular area, and brain spectroscopy showed hypoperfusion in the frontal and temporal lobes, mimicking bvFTD. However, on physical examination, xanthomas were found on both the dorsum of the hands and the Achilles tendons. Hyperactive deep tendon reflexes in the bilateral biceps, brachioradialis, and knee and positive Chaddock signs on both sides were observed. Four years later, FLAIR images showed symmetrical high signals in the bilateral dentate nuclei of the cerebellum. Her serum cholestanol (12.4 mg/L; normal value ≤6.0) and 7α,12α-dihydroxycholest-4-en-3-one (0.485 nmol/mL; normal value ≤0.100) levels were elevated. A novel likely pathogenic variant (c.1001T>A, p.Met334Lys) and a known pathogenic variant (c.1420C>T, p.Arg474Trp) of the CYP27A1 gene were found in trans-location. The patient was diagnosed with CTX and prescribed chenodeoxycholic acid (750 mg/day).
Conclusions:
This report discusses the case of a middle-aged CTX patient with an unusual phenotype of bvFTD. A novel likely pathogenic variant (c.1001T>A, p.Met334Lys) was identified in the CYP27A1 gene. Early diagnosis is important because supplying chenodeoxycholic acid can prevent CTX progression.
A Case of an Unusually Aggressive Cutaneous Anaplastic Large T-Cell Lymphoma in an HIV Patient Treated with CHOP
Authors: Jorge Hurtado-Cordovi, Louay Hanna, Vladimir Gotlieb, Alan S Multz, Anastasia Pigal
Journal: Case Rep Oncol Med (2011)
MeSH terms: Case Reports

Anaplastic large cell lymphoma (ALCL) is the second most common malignancy of T-cell phenotype. This case report describes an unusual rapidly progressing cutaneous anaplastic large T-cell lymphoma in an HIV patient. Our patient is a twenty-year-old African American male with perinatally acquired HIV who presented with a 2 × 2 centimeter necrotic lesion in the right 1st toe; however, 2-3 weeks later multiple smaller lesions appeared on the anterior aspect of the right foot, ankle, and thigh. Biopsy showed cells strongly positive for CD3 and CD30 and negative for CD56 and the ALK gene product. CT of the chest, abdomen, and pelvis was negative for extracutaneous involvement favoring cutaneous ALCL. Patient was treated with 6 cycles of CHOP (cyclophosphamide, hydroxydaunorubicin, vincristine, and prednisone) chemotherapy and went into complete remission. Due to the aggressive course that this malignancy follows in HIV patients we suggest prompt treatment with systemic therapy.
Gefitinib-induced interstitial pneumonia: A case report and review of the literature
Authors: Changqin Luo, Meiling Lv, Yuyao Li, Peijun Liu, Jin Yang
Journal: Exp Ther Med (2014)
Keywords: gefitinib, glucocorticoid, interstitial pneumonia

The aim of this study was to explore the clinical characteristics of and treatment strategies for interstitial pneumonia induced by gefitinib in patients with advanced non-small cell lung cancer (NSCLC). The detailed clinical data of one patient with NSCLC and gefitinib-induced interstitial pneumonia were compiled and a review of relevant previous studies was performed. Based on this case report and the review, the clinical characteristics, mechanisms and treatment strategies of this rare disease were analyzed. The analyses showed that older, male patients with a long smoking history, high smoking index and adenocarcinoma (particularly bronchoalveolar carcinoma) were more likely to suffer from interstitial pneumonia while taking gefitinib. The onset time of interstitial pneumonia was 1-2 months subsequent to gefitinib administration. The clinical manifestations included chest tightness, shortness of breath, progressive dyspnea, severe hypoxemia and respiratory failure. Diffuse infiltration and alveolar interstitial shadows were observed on the chest tomography scan. In such circumstances, a timely judgment is required, in addition to the withdrawal of gefitinib treatment and the administration of high-dose glucocorticoids, as well as oxygen inhalation and anti-infective therapies, in order to relieve the symptoms. In conclusion, following the onset of gefitinib-induced interstitial pneumonia, the discontinuation of gefitinib is likely to alleviate the suffering of the majority of patients. Early interstitial pneumonia is not an absolute index for the permanent discontinuation of gefitinib treatment. It is necessary to comprehensively consider the benefits and hazards of gefitinib for the patients.
Intersigmoid Internal Hernia: Laparoscopic Repair of a Rare Cause of Bowel Obstruction
Authors: Ebrahim Almahmeed, Hasan Shawqi Aljawder, Mohamed Khalid Fadhul, Abdulmenem Abualsel
Journal: Case Rep Surg (2022)
MeSH terms: Case Reports

Intersigmoid hernia is a hernia of an abdominal viscus into the intersigmoid fossa, and it is one of the rare forms of internal hernia that can present with bowel obstruction. Intersigmoid hernia poses challenges in its diagnosis and treatment due to its rarity and vague signs and symptoms. As such, a high index of suspicion should be maintained, and early diagnostic examination should be done that includes an abdominal CT that may show signs suggestive of internal hernia. Managing this condition relies mainly on surgical intervention (open or laparoscopic) in a timely manner to prevent further complications, such as bowel ischemia. We present a case of intersigmoid hernia in a 51-year-old Bahraini male who presented with vague abdominal pain and vomiting.
Case Report: Detection of SARS-CoV-2 From Cerebrospinal Fluid in a 34-Month-Old Child With Encephalitis
Authors: Fatemeh Cheraghali, Alireza Tahamtan, Seyed Ahmad Hosseini, Mohammad Hadi Gharib, Abdolvahab Moradi, Hadi Razavi Nikoo, Alijan Tabarraei
Journal: Front Pediatr (2021)
Keywords: covid-19, csf, sars-cov-2, case report, pediatrics
MeSH terms: Case Reports

Novel coronavirus (severe acute respiratory syndrome-coronavirus-2: SARS-CoV-2), which arose from Wuhan, China, has rapidly spread to other countries and developed into a pandemic. Although the respiratory manifestations of SARS-CoV-2 are well-documented, there is a considerable challenge regarding the direct and/or indirect infection in other organs. Several preliminary reports confirmed neurological manifestations in the SARS-CoV-2-infected patients. Here, we report the detection of SARS-CoV-2 from the nasopharyngeal swab and cerebrospinal fluid (CSF) in a 34-month-old child with encephalitis. This finding expands the spectrum of the neurological manifestations associated with SARS-CoV-2 infection.
Safe Resection of Renal Cell Carcinoma with Liver Invasion Using Liver Hanging Technique Supported by Preoperative Portal Vein Embolization
Authors: Masato Fujii, Toshio Kamimura, Hiromasa Tsukino, Eiji Furukoji, Tatefumi Sakae, Koichi Yano, Naoya Imamura, Shoichiro Mukai, Atsushi Nanashima, Toshiyuki Kamoto
Journal: Case Rep Urol (2018)
MeSH terms: Case Reports

In cases of RCC with liver involvement, partial hepatectomy is known to provide a better chance of survival for patients. For this reason, complete resection with clear surgical margin is thought to be necessary to achieve favorable outcome. Anterior liver hanging maneuver was extremely useful during hemihepatectomy in this rare type of RCC. A 63-year-old male was diagnosed with a large right renal cell carcinoma. The tumor measured 10 cm in diameter with tumor thrombus toward the inferior vena cava (IVC). In addition, we observed direct infiltration to the liver. We attempted a preoperative portal vein embolization (PVE) to preserve residual liver volume and function after right lobectomy. After PVE the resected volume decreased from 921 cm3 (71%) to 599 cm3 (53.4%). During the procedure, a nasogastric tube was placed in the retrohepatic space for liver hanging maneuver according to the original Belghiti's maneuver after dissection of the renal artery and vein. After hepatic parenchymal transection exposing vena cava, the right hepatic veins were safely transected using vascular stapler; right nephrectomy and hemihepatectomy were performed. The patient recovered without postoperative hepatic or urinary complications and has remained free of local recurrence and any de novo metastasis for 18 months.
ANCA-Associated Necrotizing Glomerulonephritis Overlapping with Mesangial Proliferative Lupus Nephritis Refractory to Plasmapheresis, Steroid Pulse Therapy, and a Combination of Mycophenolate Mofetil and Rituximab
Authors: Saika Sharmeen, Clarissa Cassol, Hiroshi Kato
Journal: Case Rep Rheumatol (2018)
MeSH terms: Case Reports

Necrotizing glomerulonephritis (GN) associated with antineutrophil cytoplasmic antibody (ANCA) has been increasingly recognized in the context of class III or IV lupus nephritis (LN), hereafter designated as ANCA-associated necrotizing LN. While this subset of GN appears to portend an unfavorable renal outcome, it is not clear whether it represents a distinct entity and benefits from a more aggressive therapy. We report a 78-year-old woman who presented with rapidly progressive GN and was found to have a double-stranded DNA (dsDNA) antibody, hypocomplementemia, antiphospholipid antibody, and strongly positive myeloperoxidase antibody. Renal pathology showed necrotizing and crescentic GN on a background of mesangial proliferative GN. Her kidney disease did not improve despite the treatment with plasmapheresis, three doses of methylprednisolone pulse therapy followed by prednisone at 1 mg/kg/day, rituximab, and mycophenolate mofetil. This case not only reinforces the notion that ANCA-associated necrotizing LN is associated with high dsDNA antibody, hypocomplementemia, and worse renal outcome but also adds new insight into the full spectrum of this emerging disease entity by demonstrating that the concurrence of ANCA-associated vasculitis is not specific for class III or IV LN but can also be seen on a background of class II LN.
Urticaria as initial finding of a patient with carcinoid tumor
Authors: Ivan Cherrez Ojeda, Juan Carlos Calderon, Karin Plaza, Emanuel Vanegas, Annia Cherrez, José Cano
Journal: World Allergy Organ J (2015)
Keywords: antibodies, carcinoid tumors, enterochromaffin cells, kinin, quality of life, serotonin, urticaria
MeSH terms: Case Reports

Background:
Typical carcinoid syndrome is characterized by flushing, abdominal pain and diarrhea and occurs in <10 % of carcinoid tumor patients. Very rarely, initial signs include skin manifestations. Our purpose is to highlight cutaneous manifestations in the diagnosis and assessment of a patient with atypical manifestation of type I gastric carcinoid tumor.
Case presentation:
A 50-year-old woman presented with anemia, chronic urticaria and angioedema. Urticaria was triggered principally by seafood and appeared in the first hour after. Urticaria Activity Score 7 was 24, and quality of life (CU-Q2oL) was 3.61. P. Laboratory findings showed anemia, diminished iron, ferritin, and vitamin B12, with increased gastrin and anti-parietal cell antibody levels. 15 gastric carcinoids 5 mm in diameter were observed in the greater curvature of the stomach during gastric endoscopy and confirmed by biopsy, suggesting that this patient had type I gastric carcinoids. Four additional tumors were found in the small intestine upon examination via video capsule. Endoscopic argon plasma therapy was performed. The patient experienced definitive improvement in quality of life and urticaria activity score.
Conclusion:
This patient, whose principal symptoms were anemia, urticaria and angioedema, was found to have atypical carcinoid syndrome, with tumors located in the stomach. Allergists, immunologists, internists and primary care physicians should consider the possibility of neuroendocrine malignancies, specifically type I carcinoid tumors, when evaluating patients with urticaria, and consider screening patients with chronic urticaria for elevated anti-parietal cell antibody levels.
Live Birth from the Transfer of a Severely Fragmented Embryo Observed by Morphokinetics
Authors: S Lahav-Baratz, I Blais, M Koifman, D Ishai, Z Wiener-Megnazi, G Peer, M Dirnfeld
Journal: Case Rep Obstet Gynecol (2018)
MeSH terms: Case Reports

We report a live birth from a heavily fragmented embryo which continued cleavage to a fully expanded blastocyst. A 32-year-old patient underwent 2 IVF cycles without achieving pregnancy. In the first cycle, 2 embryos with fragmentation were transferred; in the second, all embryos were fragmented and no embryo transfer was performed. In a third cycle, 12 oocytes were retrieved and 11 of them were fertilized. On day 2, all 11 embryos started to unwind to fragments. By careful annotation, using the time-lapse EmbryoScope, we observed that one embryo continued division as expected, discarding all fragments aside. On day 5, this embryo showed promising annotation according to our lab model. The embryo was transferred into the uterus and resulted in the birth of a healthy baby at term. To our knowledge, this is the first case report assisted by EmbryoScope where a healthy baby was delivered from a fragmented embryo.
Sinus of valsalva aneurysm rupture: an unusual presentation of chromosome 22q11.2 deletion: a case report
Authors: Eda-Cristina Abuchaibe, Nancy Dobrolet, Katherine Peicher, Roque Ventura, Elizabeth Welch
Journal: Case Rep Pediatr (2012)

Sinus of Valsalva aneurysm (SVA) is defined as a weakness in the aortic valve wall, immediately above the attachments of each of the aortic cusps. This weakness can rupture and create an aortocardiac fistula. There are many congenital heart defects associated with chromosome 22q11 deletion, especially involving the aortic arch and its branches. SVA is not an anomaly usually associated with chromosome 22 deletion. We report the case of a 19-year-old female who presented to our institution with SVA rupture. She was subsequently diagnosed with chromosome 22q11 deletion syndrome. Despite dysmorphic facial features and a learning disability, our patient had not been diagnosed with the chromosome abnormality. SVA is a rare congenital heart defect and has only once previously been reported in a child with a chromosome 22q11 deletion. We report the first case where aneurysm rupture preceded the chromosomal findings. Chromosome 22q11 deletion could be missed due to either the unfamiliarity of physicians with the syndrome or the variability and subtlety of the phenotype. This was demonstrated by our patient who, at age 19 after presenting with an SVA rupture, prompted physicians to find an explanation for her coexisting dysmorphic features and her learning disability.
Nasopharyngeal Tuberculosis: Epidemiology, Mechanism of Infection, Clinical Manifestations, and Management
Authors: Chonticha Srivanitchapoom, Pichit Sittitrai
Journal: Int J Otolaryngol (2016)
MeSH terms: Review

Nasopharyngeal tuberculosis (NPTB) is a noteworthy disease especially in its worldwide spread of the Mycobacterium infection. Although NPTB has been identified in less than one percent of TB cases, recent multiple case reports indicate an either increased awareness or incidence of this disease. The most helpful diagnostic tool is an uncomplicated nasopharyngeal biopsy. However, NPTB is usually ignored because it has varied clinical manifestations and similar presentations with other more common head and neck diseases. Furthermore, the most common presenting symptom is cervical lymphadenopathy mimicking nasopharyngeal carcinoma, a more common and serious disease. Treatment outcomes of NPTB are good in both HIV-positive or HIV-negative patients. In addition, pulmonary tuberculosis association was reported in wide range between 8.3% and 82% which should be considered in a treatment program. In conclusion, early diagnosis and management in NPTB can be achieved by (1) increased awareness of this disease, (2) improvement in knowledge regarding clinical manifestations, and (3) improvement of diagnostic techniques.
Facial Line Angles: A Key to Tooth-like Rehabilitation
Authors: Rim Kallala, Yosra Gassara, Ines Azouzi, Amani Adli, Dalenda Hadyaoui, Zohra Nouira, Chiraz Baccouche, Soumaya Touzi, Belhassen Harzallah, Mounir Cherif
Journal: Case Rep Dent (2022)
MeSH terms: Case Reports

Recently, improvement of appearance and a quest for beauty have become a primary concern for patients. It is a challenging task for a clinician to achieve esthetic integration of prosthetic pieces for anterior teeth, particularly for highly demanding patients who give attention to particular details. The challenge is harder when only one tooth has to be restored. The objective is to achieve a fully and perfectly integrated rehabilitation with natural dentition. Poorly described, facial line angles are key to the success of achieving the desired tooth shape, especially for the maxillary central incisor. They influence both the shape and color of the tooth through optical illusion. Their misplacement could certainly spoil the esthetic outcome. Thus, it is mandatory to respect and recreate them. The objective of the present study was to define and then to highlight their importance. It also aimed to give some tips on how to perfect the shape of prosthetic teeth through a clinical case of central incisor esthetic rehabilitation.
Juvenile polyposis syndrome: A case report
Authors: A Pérez-Castilla, P Peñailillo, D Oksenberg
Journal: Int J Surg Case Rep (2019)
Keywords: endoscopic polypectomy, juvenile polyposis, total gastrectomy

Introduction:
Juvenile polyposis syndrome it is an uncommon autosomal dominant inherited condition. Hamartomatous polyps can affect the entire gastrointestinal tract but usually predominates in the colon. We introduce a case of juvenile polyposis syndrome presented with massive gastric polyposis that requires a total gastrectomy.
Case presentation:
A 22-year-old man presented symptoms of chronic upper gastrointestinal bleeding. Gastroscopy showed massive gastric polyposis. Initially endoscopic polypectomy was performed, but due to the progressive symptoms, a total gastrectomy was then performed. Histology confirmed massive gastric juvenile polyposis.
Conclusion:
Massive gastric polyposis it is an uncommon manifestation of juvenile polyposis syndrome.
Removing an Entrapped Pigtail Catheter by Re-enforcing a Traditional Method
Authors: Alireza Serati, Babak Sharif-Kashani, Zargham Hossein Ahmadi, Farah Naghashzadeh, Neda Behzadnia, Mandana Chitsazan, Payam Abbasi
Journal: Tanaffos (2019)
Keywords: cardiac catheter, chordae tendineae, pulmonary artery catheterization
MeSH terms: Case Reports

Right heart catheterization is the main step in the evaluation of pulmonary hypertension including Chronic Thromboembolic Pulmonary Hypertension (CTEPH) and is considered a relatively safe procedure. Complications can occur including perforation, tamponade, bleeding, etc. requiring different types of interventions such as manipulation or surgery. Here, we have described a case of pigtail catheter entrapment and the method we used to free it without invasive measures.
Sudden cardiac death and valvular pathology
Authors: Rosa H A M Henriques de Gouveia, Francisco M A Corte Real Gonçalves
Journal: Forensic Sci Res (2019)
Keywords: forensic sciences, cardiac valvular pathology, forensic pathology, sudden death
MeSH terms: Case Reports

Sudden death due to valvular heart disease is reported to range from 1% to 5% in native valves and around 0.2%-0.9%/year in prosthesis. The nature of the diseases is varied, from heritable, congenital to acquired. It may affect both genders in multiple age groups. The authors show and comment examples of the major nosologic aetiologies underlying unexpected exitus letalis of valvular nature.