OpenMed/multicare-articles huggingface dataset:
Spontaneous rupture of a large non-parasitic liver cyst: a case report
Authors: Lazaros Miliadis, Triantafillos Giannakopoulos, Georgios Boutsikos, Ioannis Terzis, Ioannis D Kyriazanos
Journal: J Med Case Rep (2010)

Introduction:
Non-parasitic hepatic cysts are benign entities, occur rarely (5% of the population), and in the majority of cases, are asymptomatic. Cysts can cause symptoms when they become large and produce bile duct compression or portal hypertension, and also when complications such as rupture, infection or hemorrhage take place.
Case presentation:
We present the case of a 70-year-old Greek-Caucasian man with a large, asymptomatic and non-parasitic liver cyst that presented as an acute surgical abdominal emergency after spontaneous rupture into the peritoneal cavity.
Conclusions:
We present an extremely rare complication of simple liver cyst, its rupture in the free abdominal cavity, and its presentation as an acute abdomen. Large simple liver cysts should be treated with intervention at early recognition as conservative management usually results in their recurrence.
Cerebral Phaeohyphomycosis Caused by Exophiala dermatitidis in a Chinese CARD9-Deficient Patient: A Case Report and Literature Review
Authors: Chen Wang, Hongyi Xing, Xiaobing Jiang, Jingsi Zeng, Zhijun Liu, Jixiang Chen, Yan Wu
Journal: Front Neurol (2019)
Keywords: card9, exophiala dermatitidis, cerebral phaeohyphomycosis, fungal infection, loss-of-function mutation
MeSH terms: Case Reports

Exophiala dermatitidis, a dematiaceous fungus typically found in decaying organic matter worldwide, is a rare cause of fungal infections. Cerebral phaeohyphomycosis is a sporadic but often fatal infection of the brain caused by E. dermatitidis. However, due to limited reports, little is known about its specific predisposing factors, clinical manifestation, and optimal treatment modality. Here, we report a clinical presentation and management of cerebral phaeohyphomycosis in a Chinese patient. An otherwise healthy, young male who was diagnosed with neck fungal lymphadenitis caused by E. dermatitidis 7 months prior and was treated with itraconazole, presented later with progressive intracranial hypertension and persistent coma. Culture of the neck lymphoid tissue produced growth of a black yeast-like fungus, which was identified as E. dermatitidis by sequencing of the ribosomal DNA internal transcribed spacer (ITS) domains. Accordingly, a cerebral biopsy was performed, and the pathological report showed mycelia and fungal granulomas. We also sequenced CARD9 in the patient and found him to be homozygous for loss-of-function mutation; his parents were heterozygous for the same mutation. This is a first case report of cerebral phaeohyphomycosis caused by E. dermatitidis in a CARD9-deficient Chinese patient. He eventually succumbed to brain herniation and severe lung infection with a poor response to therapy. Thus, previously healthy patients with unexplained invasive E. dermatitidis infection, at any age, should be tested for inherited CARD9 deficiency.
Clinical Decision-Making in Chronic Spine Pain: Dilemma of Image-Based Diagnosis of Degenerative Spine and Generation Mechanisms for Nociceptive, Radicular, and Referred Pain
Authors: Haytham Eloqayli
Journal: Biomed Res Int (2018)
MeSH terms: Back Pain / diagnosis, Chronic Pain / diagnosis, Intervertebral Disc Degeneration / diagnosis, Intervertebral Disc Displacement / diagnosis, Nociceptive Pain / diagnosis, Pain, Referred / diagnosis, Spine / physiopathology, Adult, Aged, Back Pain / therapy, Chronic Pain / therapy, Clinical Decision-Making, Female, Humans, Intervertebral Disc Degeneration / therapy, Intervertebral Disc Displacement / therapy, Male, Middle Aged, Nociceptive Pain / therapy, Pain Management / methods, Pain, Referred / therapy, Intervertebral disc disease

Background:
Spine-related pain is a complex heterogeneous condition. Excessive reliance on radiological imaging might lead to overdiagnosis of incidental asymptomatic spinal changes and unnecessary surgery. Approaches to the clinical management of spine pain should (1) identify pain generators, types, patterns, and mechanisms; (2) confirm clinical suspension with a diagnostic injection; and (3) ensure that treatment is aimed at controlling pain and improving patient function rather than image-based surgical success.
Method:
This case series (7 cases) discusses commonly seen clinical presentation of spine pain analytically, with illustrations of possible pain generators, mechanisms, pathways, and pain types. Each case discusses pain types and location (axial nociceptive, referred, and radicular neuropathic), generators (degenerated disc, herniated disc, facet joint, and sacroiliac joint), pathways (sinuvertebral ventral ramus and medial and lateral branches dorsal ramus), and radiculopathy versus radicular pain, elaborating on coccydynia and cervicogenic headaches, epimere versus hypomere muscle embryology, function, innervation, and role in spine-related pain.
Results:
Multiple pain generators might coexist in the same patient causing mixed pain types and referral patterns with multiple mechanisms and pathways. History review, physical examination, and diagnostic injections are the mainstays of diagnosis.
Conclusions:
Image-detected spondylosis might be an asymptomatic process. Clinical presentation is related to stenosis or pain. The mechanism of pain is related to compression, inflammation, or microinstability. Spine pain can be nociceptive axial, neuropathic radicular, and/or referred pain. Although image findings are helpful in radicular neuropathic pain from disc herniation, they are unreliable in nociceptive pain, and correlation with clinical and diagnostic injections is mandatory.
An Unusual Case of Tertiary Syphilis Behaving Like Tongue Squamous Cell Carcinoma
Authors: Roberto N Solis, Brooks T Kuhn, D Gregory Farwell
Journal: J Investig Med High Impact Case Rep (2018)
Keywords: granulomatous inflammation, oral manifestations, syphilis, tertiary syphilis, tongue
MeSH terms: Granuloma / etiology, Syphilis / diagnosis, Tongue / pathology, Tongue Diseases / etiology, Case Reports, Anti-Bacterial Agents / therapeutic use, Biopsy, Carcinoma, Squamous Cell, Diagnosis, Differential, Humans, Male, Middle Aged, Syphilis / complications, Tongue Neoplasms, Anti-Bacterial Agents, Syphilis, tertiary

Syphilis may present with a myriad of oral manifestations in the primary, secondary, and tertiary stages, and may be confused with malignancy. Despite a rise in the incidence of syphilis, tertiary syphilis is exceedingly rare. Tertiary syphilis gummas usually affect the hard palate, while tongue involvement is very rare. A 55-year-old male with extensive smoking and alcohol use was referred for malignancy evaluation with an ulcerative mass creating a tongue cleft, and a positron emission tomography scan suggestive for malignancy. Biopsy results demonstrated no carcinoma but histology demonstrated granulomatous inflammation. Further laboratory results demonstrated elevated rapid plasma reagin titers with Treponema pallidum immunoglobulin G antibodies present. The patient was diagnosed with tertiary syphilis, received appropriate antibiotic therapy, and had healing of the tongue with a persistent cleft. Syphilis may mimic many disease processes. As such, it is important to include this disease in the differential of an unusual tongue lesion. An oral lesion may be the first sign of infection.
A study protocol for quantifying patient preferences in neuromuscular disorders: a case study of the IMI PREFER Project
Authors: Aura Cecilia Jimenez-Moreno, Cathy Anne Pinto, Bennett Levitan, Chiara Whichello, Christine Dyer, Eline Van Overbeeke, Esther de Bekker-Grob, Ian Smith, Isabelle Huys, Jennifer Viberg Johansson, Kate Adcock, Kristin Bullock, Vikas Soekhai, Zhong Yuan, Hanns Lochmuller, Ardine de Wit, Grainne S Gorman
Journal: Wellcome Open Res (2020)
Keywords: best worst scaling, discrete choice experiment, imi-prefer, myotonic dystrophy, q-methodology, mitochondrial disease, patient preferences, risk tolerance, treatment preferences

Objectives: Patient preference studies are increasingly used to inform decision-making during the medical product lifecycle but are rarely used to inform early stages of drug development. The primary aim of this study is to quantify treatment preferences of patients with neuromuscular disorders, which represent serious and debilitating conditions with limited or no treatment options available. Methods: This quantitative patient preferences study was designed as an online survey, with a cross-over design. This study will target two different diseases from the neuromuscular disorders disease group, myotonic dystrophy type 1 (DM1) and mitochondrial myopathies (MM). Despite having different physio-pathological pathways both DM1 and MM manifest in a clinically similar manner and may benefit from similar treatment options. The sample will be stratified into three subgroups: two patient groups differentiated by age of symptom onset and one caregivers group. Each subgroup will be randomly assigned to complete two of three different preference elicitation methods at two different time points: Q-methodology survey, discrete choice experiment, and best-worst scaling type 2, allowing cross-comparisons of the results across each study time within participants and within elicitation methods. Additional variables such as sociodemographic, clinical and health literacy will be collected to enable analysis of potential heterogeneity. Ethics and Dissemination: This study protocol has undergone ethical review and approval by the Newcastle University R&D Ethics Committee (Ref: 15169/2018). All participants will be invited to give electronic informed consent to take part in the study prior accessing the online survey. All electronic data will be anonymised prior analysis. This study is part of the Patient Preferences in Benefit-Risk Assessments during the Drug Life Cycle (IMI-PREFER) project, a public-private collaborative research project aiming to develop expert and evidence-based recommendations on how and when patient preferences can be assessed and used to inform medical product decision making.
The onset of a peripheral ameloblastoma
Authors: Kellen Cristine Tjioe, José Humberto Damante, Denise Tostes Oliveira
Journal: Case Rep Oncol Med (2012)
MeSH terms: Case Reports

Incipient odontogenic tumors often display intermediate features between two or more lesions leading to diagnosis dilemma. We report the onset of a peripheral ameloblastoma fortuitously found subjacent to a nondysplastic leukoplakia in the region of missing 38 teeth of a 52-year-old man. The aim of this paper is the discussion of the microscopical features observed in the case reported which allowed the establishment of the final diagnosis of an early peripheral ameloblastoma.
A Case Report and Literature Review of the Outcome of Linezolid-Induced Optic and Peripheral Neuropathy in Patients With Multidrug-Resistant Pulmonary TB
Authors: Safia Bano, Ahmad Nawaz, Ahsan Numan, Muhammad Aarish Hassan, Muhammad Bilal Ahmad Shafique
Journal: Front Neurol (2022)
Keywords: case report, drug-resistant tuberculosis, linezolid (lzd), optic neuropathy, peripheral neuropathy
MeSH terms: Case Reports

Linezolid is a second-line medication used to treat tuberculosis that has become resistant to multiple drugs. Linezolid has been shown to be effective in treating drug-resistant TB. However, long-term therapy is hampered by the related side effects, such as ocular and peripheral neuropathy. We recently encountered a 32-year-old male undergoing linezolid therapy for 12 months for multidrug-resistant tuberculosis who presented with progressive painless visual impairment and peripheral neuropathy symptoms in lower limbs as well as ataxic gait. Nerve conduction study findings of length-dependent axonal sensory polyneuropathy with bilateral optic neuropathy evident on fundoscopy suggested a case of toxic neuropathy. Following the termination of linezolid, follow-up visits revealed an improvement in visual symptoms. While there has been no discernible improvement or deterioration of peripheral neuropathy. In a developing country like Pakistan, where the rising number of cases of multidrug-resistant tuberculosis and its management is a major problem, physicians should be made aware of linezolid induced neuropathy so that close follow-up sessions for patients on long-term linezolid therapy can be arranged to avoid serious neurological consequences.
Case Report: Familial Hypocalciuric Hypercalcaemia and Hashimoto's Thyroiditis
Authors: Shahd Mobarak, Munir Tarazi, Harry Spiers, Anjali Santhakumar, Bence Forgacs
Journal: Front Surg (2020)
Keywords: hashimoto's thyroiditis, case report, familial hypocalciuric hypercalcaemia, follicular variant papillary thyroid carcinoma, primary hyperparathyroidism
MeSH terms: Case Reports

Introduction: Hypercalcaemia can be caused by many disorders. Primary hyperparathyroidism is the leading cause with parathyroidectomy being the definitive management. Familial hypocalciuric hypercalcaemia is a rarer cause in which resection of the parathyroid tissue does not result in normalized serum calcium. Case presentation: We report the unusual case of a 53-year-old lady who presented with hypercalcaemia and elevated parathyroid hormone with a presumed diagnosis of primary hyperparathyroidism. She remained hypercalcaemic after parathyroidectomy and was later diagnosed with familial hypocalciuric hypercalcaemia. During the first operation, a lymph node was also removed, and the histopathology report suggested a metastasis of follicular variant papillary thyroid carcinoma (FVPTC). After multi-disciplinary team (MDT) discussion, the patient underwent a second exploration where total thyroidectomy and removal of the other parathyroid glands were performed. Hypercalcaemia completely resolved on surgical resection of the thyroid and parathyroid tissue, however histopathology revealed normal parathyroid glands and florid Hashimoto's thyroiditis. The initial diagnosis of FVPTC in the lymph node was revisited and the final histopathology report suggested an accessory thyroid nodule with florid Hashimoto's thyroiditis mimicking a lymph node. Conclusion: Our case demonstrates the diagnostic dilemma in hypercalcaemia that may lead a patient to undergo unnecessary invasive procedures; the misdiagnosis of FVPTC after the first operation resulted in a second more extensive procedure. Patients with no clear surgical target and urine CCCR in the gray/non-diagnostic area should be routinely offered genetic testing despite negative family history.
Double giant ectasia of right coronary artery in a young woman: A rare case report
Authors: Tran Quyet Tien
Journal: Int J Surg Case Rep (2020)
Keywords: coronary artery aneurysm, coronary artery ectasia, giant
MeSH terms: Case Reports

Background:
Coronary artery ectasia (CAE) is a rare condition that is characterized by the excessive diffuse dilatation of the coronary arteries by 1.5 times in diameter compared to adjacent coronary arteries. The giant CAE is even rarer and life-threatening.
Case presentation:
A 34-year-old female patient was admitted to our centre with three months history of vague chest pain that worsened gradually. The CT scanner confirmed that there were two giant aneurysmal sacs in the right coronary artery (RCA). The first sac was 32 × 36 mm in size and located in the proximal RCA, the second one containing thrombus in the middle RCA with a size of 43 × 30 mm. The patient was successfully treated by aneurysmal resection and concomitant coronary artery bypass.
Conclusion:
Giant coronary artery ectasia is a rare clinical condition and very dangerous for patients unless properly treated. We successfully treated a case of giant right coronary artery ectasia with favorable outcome.
The decision on the embryo to transfer after Preimplantation Genetic Diagnosis for X-autosome reciprocal translocation in male carrier
Authors: Sandrine Chamayou, Maria Sicali, Debora Lombardo, Carmelita Alecci, Antonino Guglielmino
Journal: Mol Cytogenet (2018)
Keywords: genetic counseling, preimplantation genetic diagnosis, reciprocal translocation, x inactivation, x-autosome translocation
MeSH terms: Case Reports

Background:
The aim of Preimplantation Genetic Diagnosis (PGD) on embryos produced in vitro is to identify the embryos without genetic or chromosomal defect from those embryos that will develop the genetic disease or are chromosomally abnormal. In case of PGD for structural chromosome indication (PGR-SR), the normal/balanced embryos are transferred in the maternal uterus. This protocol is valid and widely applied for autosomal chromosome translocation. But which embryo should be transferred after preimplantation genetic diagnosis (PGD-SR) for X-3 reciprocal translocation in male patient?
Case presentation:
The female patient was 26 years old with normal 46,XX karyotype. The male patient had a karyotype with balanced translocation 46,Y,t(X;3)(p11.2;p14)mat, inherited from the mother. The female patient underwent two cycles of ovarian stimulation. In the first cycle, the metaphase II oocytes were vitrified, while in the second cycle they were used as fresh. ICSI was performed on vitrified/warmed and fresh oocytes. Embryos were biopsied at blastocyst stage. Chromosomal analysis was performed by Next Generation Sequencing.Eleven blastocysts were biopsied from 23 vitrified/warmed and fresh metaphase II oocytes. Two embryos were diagnosed 46,XY; two embryos were diagnosed 46,XX; four embryos were diagnosed with unbalanced translocations and three embryos were diagnosed aneuploid. We knew that the two embryos diagnosed as 46,XX inherited the balanced translocation from the father and the two embryos diagnosed as 46,XY had a normal karyotype. It was explain to the couple that the phenotype of balanced translocated female embryos cannot be predicted because of the random inactivation of X chromosome and that could also occur on the der(X). The couple asked to have a 46,XY embryo transferred. Clinical pregnancy was obtained and non invasive prenatal test confirmed PGD-SR result.
Conclusions:
Proposing PGD-SR for gonosome-autosome reciprocal translocation implies the risk to exclude balanced translocated female embryos with a normal phenotype for transfer because the early and late normal development at post-natal stage cannot be predicted based on the only chromosomal analysis.
Anesthetic Management for Inclusion Body Myositis in Coronary Artery Bypass Graft Surgery
Authors: Uoo Kim
Journal: Case Rep Anesthesiol (2020)
MeSH terms: Case Reports

Anesthetic management for patients with certain neuromuscular disorders may be challenging due to contraindications to triggering agents secondary to increased susceptibility for malignant hyperthermia (MH). Inclusion body myositis (IBM) is an inflammatory muscle disease that causes concern for the anesthesiologist due to potential respiratory muscle weakness and hyperkalemia with succinylcholine. Elevated serum creatinine kinase levels found in IBM also raise the possibility of increased susceptibility to MH. This case report describes a successful anesthetic course with special considerations in a patient with IBM undergoing general anesthesia for coronary artery bypass grafting (CABG) under cardiopulmonary bypass (CPB) using total intravenous anesthesia (TIVA).
Gastrointestinal Tuberculosis Presenting as Malnutrition and Distal Colonic Bowel Obstruction
Authors: Raja Chandra Chakinala, Zahava C Farkas, Benjamin Barbash, Khwaja F Haq, Shantanu Solanki, Muhammad Ali Khan, Edward Esses, Taliya Farooq, Brad Dworkin
Journal: Case Rep Gastrointest Med (2018)
MeSH terms: Case Reports

Gastrointestinal (GI) tuberculosis (TB) is rare and can occur in the context of active pulmonary disease or as a primary infection with no pulmonary symptoms. It typically presents with vague abdominal symptoms, making it difficult to discern from alternative disease processes. Although the ileocecal region is the most commonly affected site, tuberculous enteritis can involve any aspect of the GI tract. To demonstrate the importance of maintaining a high clinical suspicion for the disease, we present a case of GI TB presenting as severe malnutrition and segmental colitis of the left colon.
A case of conservatively managed invasive ceruminoma and a review of the literature
Authors: T F C Saunders, P Monksfield
Journal: Case Rep Otolaryngol (2014)

Ceruminomas are rare tumours arising from the apocrine sweat glands of the ear canal. We present a case of a malignant ceruminoma, which was managed with local surgical excision only rather than the wider clearance more commonly undertaken with these invasive neoplasms. We present the clinical case, histological analysis, and clinical progression for this patient and review the literature on this uncommon pathology.
Large Left Ventricular Thrombus in a Patient with Systemic and Venous Thromboembolism Secondary to Protein C and S Deficiency
Authors: Mohit Pahuja, Bujji Ainapurapu, Aiden Abidov
Journal: Case Rep Cardiol (2017)
MeSH terms: Case Reports

58-year-old Hispanic female presented with an altered mental status. A CT scan of the head demonstrated multiple scattered infarcts and a large right temporal lobe infarct. We also diagnosed the patient with right popliteal and femoral vein thrombosis, bilateral pulmonary embolism, and a transient right radial artery occlusion. Her 12-lead EKG showed lateral ST elevation. Emergent coronary angiogram revealed normal coronaries. Echocardiogram demonstrated a large mobile mass attached to the anterolateral free wall with overall normal contractility of the left ventricle. The patient underwent surgical embolectomy to prevent further systemic embolization. Coagulability workup returned positive for protein C and S deficiency. The patient did well after surgery. Following her surgery, we initiated chronic oral anticoagulation. The presentation with intracardiac thrombus in a normal heart should raise a concern of a probable thrombophilia.