OpenMed/multicare-articles huggingface dataset:
Suppression of tinnitus in a patient with unilateral sudden hearing loss: a case report
Authors: Alessandra Fioretti, Giorgia Peri, Alberto Eibenstein
Journal: Case Rep Otolaryngol (2012)

We describe a case of a 67-year-old woman with severe disabling right-sided tinnitus, mild hyperacusis, and headache. The tinnitus was associated with sudden right hearing loss and vertigo, which occurred about 18 months before. Magnetic resonance imaging (MRI) resulted in normal anatomical structures of the cochlea and of the cranial nerves showing a partial empty sella syndrome with suprasellar cistern hernia. Angio-MR revealed a bilateral contact between the anterior-inferior cerebellar artery (AICA) and the acoustic-facial nerve with a potential neurovascular conflict. Surgery was considered unnecessary after further evaluations. The right ear was successfully treated with a combination device (hearing aid plus sound generator). Shortly after a standard fitting procedure, the patient reported a reduction of tinnitus, hyperacusis, and headache which completely disappeared at the follow-up evaluation after 3, 6, and 12 months. This paper demonstrates that the combination device resulted in a complete tinnitus and hyperacusis suppression in a patient with unilateral sensorineural sudden hearing loss. Our paper further supports the restoration of peripheral sensory input for the treatment of tinnitus associated with hearing loss in selected patients.
Ornithine Transcarbamylase Deficiency: If at First You Do Not Diagnose, Try and Try Again
Authors: Christan D Santos, Robert A Ratzlaff, Jennifer C Meder, Paldeep S Atwal, Nicole E Joyce
Journal: Case Rep Crit Care (2017)
MeSH terms: Case Reports

Ornithine transcarbamylase (OTC) deficiency is well known for its diagnosis in the neonatal period. Presentation often occurs after protein feeding and manifests as poor oral intake, vomiting, lethargy progressing to seizure, respiratory difficulty, and eventually coma. Presentation at adulthood is rare (and likely underdiagnosed); however, OTC deficiency can be life-threatening and requires prompt investigation and treatment. Reports and guidelines are scarce due to its rarity. Here, we present a 59-year-old woman with a past history of irritable bowel syndrome who underwent a reparative operation for rectal prolapse and enterocele. Her postoperative course was complicated by a bowel perforation (which was repaired), prolonged mechanical ventilation, tracheostomy, critical illness myopathy, protein-caloric malnutrition, and altered mental status. After standard therapy for delirium failed, further investigation showed hyperammonemia and increased urine orotic acid, ultimately leading to the diagnosis of OTC deficiency. This case highlights the importance of considering OTC deficiency in hospitalized adults, especially during the diagnostic evaluation for altered mental status.
Pulmonary Congestion Due to Right and Left Heart Output Mismatching: A Case Report and Literature Review
Authors: Jing Yuan, Yongjun Li, Jie Sun
Journal: Front Physiol (2021)
Keywords: anesthesia, bronchospasm, cardiopulmonary bypass, left atrial pressure, pulmonary congestion
MeSH terms: Review

We report a new pulmonary circulation model during cardiopulmonary bypass that is able to cause pulmonary congestion but without left heart failure. This kind of congestion is characterized by right and left heart output mismatching. The pathophysiological mechanism, clinical manifestations, diagnosis, differential diagnosis, and treatment of this pulmonary congestion are reviewed and discussed in the following article.
Focal Segmental Glomerulosclerosis in Waldenström's Macroglobulinemia
Authors: Akshee Batra, Shatha Herz Allah, Bijin Thajudeen
Journal: Case Rep Nephrol (2020)
MeSH terms: Case Reports

Renal involvement in Waldenström's macroglobulinemia is a rare manifestation. Although most renal involvement is due to monoclonal immune deposits, pathology can also be unrelated to it. Here, we describe a 68-year-old female with a history of Waldenström's macroglobulinemia who presented with generalized edema and nephrotic range proteinuria. A renal biopsy showed findings consistent with focal segmental glomerulosclerosis. Treatment with oral prednisone leads to the resolution of proteinuria. This case highlights the importance of identifying pathology that might not be directly related to monoclonal gammopathy, which could have implications on the management.
Synchronous or Metachronous Hairy Cell Leukemia and Chronic Lymphocytic Leukemia: A Case Series and Literature Review
Authors: Vivek Verma, Smith Giri, Vijaya Raj Bhatt, Catalina Amador-Ortiz, James O Armitage
Journal: Front Oncol (2017)
Keywords: chronic lymphocytic leukemia, cladribine, fludarabine, hairy cell leukemia, rituximab
MeSH terms: Case Reports

Introduction:
Concurrent hairy cell leukemia (HCL) and chronic lymphocytic leukemia (CLL) is rare; management is inadequately described in the literature.
Methods:
Retrospective chart review and clinical follow-up.
Results:
Five patients are described. The first patient developed synchronous HCL and CLL and was treated with rituximab for 13 months with HCL in remission and stable CLL. The second patient developed HCL and was treated with cladribine. His disease recurred 7 years later which was retreated with cladribine. Seven years later, he developed asymptomatic CLL. The third patient developed CLL, managed expectantly, then developed HCL 10 months later, and was treated with cladribine. Although his HCL went into remission, there was a slow redevelopment of CLL for which expectant management was done. The fourth patient developed concurrent CLL and HCL, received cladribine, with subsequent development of worsening abdominal lymphadenopathy and was lost to follow-up. The last patient developed concurrent HCL and CLL and was also diagnosed with lung adenocarcinoma; this patient was also lost to follow-up.
Conclusion:
The development of concurrent HCL and CLL may indicate a common origin. Patients with HCL may subsequently develop CLL, thus mimicking a relapse of HCL. Therapy requires individualized approach including watchful waiting in asymptomatic cases. Rituximab may be useful to treat both disorders simultaneously.
A deceptive MRI appearance of the medial meniscus in a 14 year old boy: a case report
Authors: Padmanabhan Subramanian, Charles A Willis-Owen, David G Houlihan-Burne
Journal: Cases J (2009)

Background:
A 14 year old boy with a history and clinical examination suggestive of a medial meniscal tear is presented.
Case presentation:
The MRI findings suggested a horizontal cleavage tear so arthroscopy was carried out. No intra articular pathology was found at the time of surgery.
Conclusion:
The role of MRI in investigation of meniscal injuries in children is discussed and the limitations highlighted.
Case Report: Co-Existence of BRCA2 and PALB2 Germline Mutations in Familial Prostate Cancer With Solitary Lung Metastasis
Authors: Tang Tang, Lin-Ang Wang, Peng Wang, Dali Tong, Gaolei Liu, Jun Zhang, Nan Dai, Yao Zhang, Gang Yuan, Kyla Geary, Dianzheng Zhang, Qiuli Liu, Jun Jiang
Journal: Front Oncol (2020)
Keywords: brca2, palb2, case report, platinum-based chemotherapy, prostate cancer, radiotherapy
MeSH terms: Case Reports

Background:
Mutation-caused loss-of-function of factors involved in DNA damage response (DDR) is responsible for the development and progression of ~20% of prostate cancer (PCa). Some mutations can be used in cancer risk assessment and informed treatment decisions.
Methods:
Target capture-based deep sequencing of 11 genes was conducted with total DNA purified from the proband's peripheral blood. Sanger sequencing was conducted to screen potential germline mutations in the proband's family members. Targeted sequencing of a panel of 1,021 genes was done with DNA purified from the tumor tissue.
Results:
Two previously unreported germline mutations in the DDR pathway, BRCA2 (c.8474_8487delCATACCCTATACAG, p.A2825Vfs*15) and PALB2 (c.472delC, p.Q158Rfs*19) were identified in a patient with metastatic PCa. A specific therapeutic regimen including androgen deprivation therapy, locally radical radiotherapy, and systemic platinum chemotherapy worked well against his cancer. In addition, the metastatic ovarian cancer in the proband's half-sister harboring the same BRCA2 germline mutation also responded well to platinum chemotherapy.
Conclusions:
The newly identified germline mutations in DDR plays important role in PCa development. Since specific regimen worked well against this cancer, screening of DDR mutation could provide better management for patients with these mutation-mediated PCa.
Detection of dengue virus in saliva and urine by real time RT-PCR
Authors: Telma R Poloni, Anibal S Oliveira, Helda L Alfonso, Larissa R Galvão, Alberto A Amarilla, Dimair F Poloni, Luiz T Figueiredo, Victor H Aquino
Journal: Virol J (2010)
MeSH terms: Dengue / diagnosis, Dengue Virus / isolation & purification, Reverse Transcriptase Polymerase Chain Reaction / methods, Saliva / virology, Urine / virology, Case Reports, Evaluation Study, Research Support, Non-U.S. Gov't, Adolescent, Adult, Brazil, Female, Humans, RNA, Viral / genetics, RNA, Viral / isolation & purification, Serum / virology, RNA, Viral

Early diagnosis of dengue virus (DENV) infection is important for patient management and control of dengue outbreaks. The objective of this study was to analyze the usefulness of urine and saliva samples for early diagnosis of DENV infection by real time RT-PCR. Two febrile patients, who have been attended at the General Hospital of the School of Medicine of Ribeirao Preto, Sao Paulo University were included in the study. Serum, urine and saliva samples collected from both patients were subjected to real time RT-PCR for DENV detection and quantification. Dengue RNA was detected in serum, urine and saliva samples of both patients. Patient 1 was infected with DENV-2 and patient 2 with DENV-3. Data presented in this study suggest that urine and saliva could be used as alternative samples for early diagnosis of dengue virus infection when blood samples are difficult to obtain, e.g., in newborns and patients with hemorrhagic syndromes.
African trypanosomiasis in travelers returning to the United Kingdom
Authors: David A J Moore, Mark Edwards, Rod Escombe, Dan Agranoff, J Wendi Bailey, S Bertel Squire, Peter L Chiodini
Journal: Emerg Infect Dis (2002)
MeSH terms: Suramin / therapeutic use, Trypanocidal Agents / therapeutic use, Trypanosomiasis, African / diagnosis, Case Reports, Adult, Humans, Kenya, Male, Middle Aged, Tanzania, Travel, Trypanosomiasis, African / drug therapy, Trypanosomiasis, African / epidemiology, United Kingdom / epidemiology, Zambia, Trypanocidal Agents, Suramin

Two returning safari tourists with African trypanosomiasis were admitted to the Hospital for Tropical Diseases, London, in a 3-day period, compared with six cases in the previous 14 years. We describe the clinical features, diagnosis, and problems encountered in accessing appropriate therapy, and discuss the potential for emergence of this disease in increasingly adventurous international travelers.
Acute rhabdomyolysis with severe polymyositis following ipilimumab-nivolumab treatment in a cancer patient with elevated anti-striated muscle antibody
Authors: Mehmet Asim Bilen, Sumit K Subudhi, Jianjun Gao, Nizar M Tannir, Shi-Ming Tu, Padmanee Sharma
Journal: J Immunother Cancer (2016)
Keywords: immune checkpoint inhibitors, immune-related adverse event, ipilimumab, nivolumab, polymyositis, rhabdomyolysis, urothelial carcinoma

Background:
Immune checkpoint inhibitors have revolutionized cancer therapy since these drugs target inhibitory pathways on T cells, which result in durable anti-tumor immune responses and significant overall survival for a subset of cancer patients. These drugs can also lead to toxicities, which require additional research to identify mechanisms of toxicities and biomarkers that can help to identify patients who will develop immune-related adverse events.
Case presentation:
We describe the first case, to our knowledge, of a patient with metastatic urothelial carcinoma who developed acute rhabdomyolysis with severe polymyositis after treatment with combination immunotherapy consisting of ipilimumab plus nivolumab (Trial registration: NCT01928394. Registered: 8/21/2013). We found that this patient had an elevated pre-existing anti-striated muscle antibody titer, which was likely exacerbated with the immunotherapy treatment thereby resulting in the presentation of acute rhabdomyolysis and severe polymyositis.
Conclusions:
This case suggests that immune-related adverse events may be linked to subclinical autoimmune conditions which highlights the need for additional studies to identify patients who are at risk for toxicities.
Case Report: Resolution of radiation pneumonitis with androgens and growth hormone
Authors: Allen Yen, Kenneth D Westover
Journal: Front Oncol (2022)
Keywords: androgen, case report, growth hormone, lung cancer, radiation pneumonitis, steroids anabolics
MeSH terms: Case Reports

Radiation pneumonitis (RP) occurs in some patients treated with thoracic radiation therapy. RP often self-resolves, but when severe it is most commonly treated with corticosteroids because of their anti-inflammatory properties. Androgens and human growth hormone (HGH) also have anti-inflammatory and healing properties in the lung, but have not been studied as a remedy for RP. Here we present a case of corticosteroid-refractory RP that resolved with androgen and HGH-based therapy.
Case presentation:
A 62 year old male body builder with excellent performance status presented with locally advanced non-small cell lung cancer characterized by a 7 cm mass in the right lower lobe and associated right hilar and subcarinal lymph node involvement. He was treated with chemoradiation and an excellent tumor response was observed. However, 2 months post-treatment he developed severe shortness of breath and imaging was consistent with RP. His RP was refractory to prednisone and antibiotic therapy, despite various regimens over a 9 month period. The patient self-treated with an androgen and HGH-based regimen and the RP promptly resolved.
Conclusion:
The anti-inflammatory properties of androgens and HGH have prompted an exploration of their potential role in therapeutic strategies to treat pro-inflammatory conditions such as sepsis, infections and interstitial lung disease. This case study suggests a potential role for the use of androgens for the treatment of steroid-refractory RP after radiation therapy. However, the applicability of this strategy to general populations should be weighed carefully against secondary effects of these agents, especially in the setting of cancer survivorship.
Bronchopulmonary Sequestration with Morbid Neonatal Pleural Effusion despite Successful Antenatal Treatment
Authors: Natalie Divjak, Sabine Vasseur Maurer, Eric Giannoni, Yvan Vial, Anthony de Buys Roessingh, Barbara E Wildhaber
Journal: Front Pediatr (2017)
Keywords: antenatal treatment, bronchopulmonary sequestration, neonatology, pediatric surgery, pleural effusion
MeSH terms: Case Reports

Introduction:
Bronchopulmonary sequestration (BPS) may cause prenatal pleural effusion (PE) or even hydrops. This case describes a fetus presenting with severe PE, which prenatally waned completely under steroid treatment, yet surprisingly reappeared rapidly after birth, requiring early surgical intervention.
Case description:
A male fetus was diagnosed with left BPS and severe PE. After three courses of prenatal steroid therapy for each recurrence of PE from 27 weeks of gestation, we observed a complete regression of PE prenatally. Yet, PE recurred 18 h after birth and persisted after repeated drainages and steroid therapy. Early total resection of the extralobar BPS was performed and led to complete recovery without recurrence of PE.
Conclusion:
This report underlines that in cases of BPS presenting with prenatal PE needing fetal intervention, even if full regression of PE is observed before birth, there might be a need for surgical excision during the neonatal period.
Guillain-Barré syndrome (GBS) complicated by rhabdomyolysis (RML): Case reports of 2 children and literature review
Authors: Xin-Ying Yang, Tong-Li Han, Jun-Lan Lv
Journal: Front Pediatr (2022)
Keywords: guillain-barré syndrome, acute motor axonal neuropathy, acute motor sensory axonal neuropathy, creatine kinase, rhabdomyolysis
MeSH terms: Case Reports

We initially described two children who developed Guillain-Barré syndrome (GBS) complicated by rhabdomyolysis (RML), and reviewed five adult patients from the literature. Through analysis of the clinical features, laboratory examination, treatment and prognostic data from these seven patients, we found that when GBS "meets" RML, the most prominent characteristics were the following: male dominance; limb weakness, pain and respiratory failure could be caused by multiple factors; limb weakness and respiratory muscle paralysis were more serious than with GBS alone; and the probability of mechanical ventilation was increased. Neuroelectrophysiological studies revealed axonal lesions. Close monitoring and timely identification and intervention to remedy potentially fatal complications such as electrolyte disorder multisystem complications and kidney injury are crucial. With plasma exchange, peritoneal dialysis and supportive treatment, the long-term outcome of most patients was satisfactory.
Longitudinal slit procedure in addition to negative pressure wound therapy for a refractory wound with exposed achilles tendon
Authors: Erika Ohata, Shunsuke Yuzuriha, Yoshito Mishima, Kiyoshi Matsuo
Journal: Eplasty (2015)
Keywords: achilles tendon, burn, foot, longitudinal slit, negative pressure wound therapy
MeSH terms: Case Reports

Objective:
This case report reviews features of negative pressure wound therapy, particularly for the exposed Achilles tendon, and describes an additional effective procedure.
Methods:
An 87-year-old man presented with a soft-tissue defect measuring 3×5 cm with the exposed Achilles tendon as a sequela of deep burn. The condition of his affected leg was ischemic because of arteriosclerosis. We used negative pressure wound therapy and made 2 longitudinal slits penetrating the tendon to induce blood flow from the ventral side to the dorsal surface.
Results:
By this combination therapy, the surface of the exposed Achilles tendon was completely epithelialized and the tendon was spared without disuse syndrome.
Conclusions:
The authors conclude that this combination therapy is useful for covering the widely exposed tendon in aged patients.
A Case Study of Severe Esophageal Dysmotility following Laparoscopic Sleeve Gastrectomy
Authors: Caroline E Sheppard, Daniel C Sadowski, Richdeep Gill, Daniel W Birch
Journal: Case Rep Surg (2016)

Following bariatric surgery, a proportion of patients have been observed to experience reflux, dysphagia, and/or odynophagia. The etiology of this constellation of symptoms has not been systematically studied to date. This case describes a 36-year-old female with severe esophageal dysmotility following LSG. Many treatments had been used over a course of 3 years, and while calcium channel blockers reversed the esophageal dysmotility seen on manometry, significant symptoms of dysphagia persisted. Subsequently, the patient underwent a gastric bypass, which seemed to partially relieve her symptoms. Her dysphagia was no longer considered to be associated with a structural cause but attributed to a "sleeve dysmotility syndrome." Considering the difficulties with managing sleeve dysmotility syndrome, it is reasonable to consider the need for preoperative testing. The question is whether motility studies should be required for all patients planning to undergo a LSG to rule out preexisting esophageal dysmotility and whether conversion to gastric bypass is the preferred method for managing esophageal dysmotility after LSG.
Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing
Authors: Ahmed Bouhouche, Houyam Tibar, Yamna Kriouale, Mohammed Jiddane, Imane Smaili, Naima Bouslam, Ali Benomar, Mohamed Yahyaoui, Elmostafa El Fahime
Journal: Case Rep Genet (2018)
MeSH terms: Case Reports

GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder due to mutations in the lysosomal acid 3-galactosidase gene, GLB1. It is usually classified into three forms, infantile, juvenile, or adult, based on age at onset and severity of central nervous system involvement. Because of their broad clinical spectrum and their similarity to many other aetiologies, including inherited neurodegenerative and metabolic diseases, it is often difficult to diagnose such diseases. Recently, whole exome sequencing (WES) has become increasingly used when a strong hypothesis cannot be formulated based on the clinical phenotype. Here, we present three patients belonging to a consanguineous Moroccan family with a GM1-gangliosidosis with unusual clinical onset and atypical radiological presentation that had eluded diagnosis for over a decade. To identify the disease-causing mutation, we performed a whole exome sequencing and a chromosomal microarray genotyping in order to reduce the number of genetic variants to be interpreted, by focusing the data analysis only on the linked loci. The already known pathogenic missense mutation c.601G>A in GLB1 (p.R201C) was found at homozygous state in the proband V.1 and at heterozygous state in his father IV.1. The mutation was validated by Sanger sequencing and segregated in all the family members according to a recessive mode of inheritance. Outside of the linked loci, we found the EXOSC8 p.Ser272Thr mutation at heterozygous state in all the patients and their mother IV.2. This mutation was reported to cause pontocerebellar hypoplasia type 1C and could act as a modifying factor that exacerbates the brain atrophy of patients. Our study identified the first GLB1 mutation in North Africa in patients with unexpected brain-MRI outcomes extending the clinical spectrum of the GM1-gangliosidosis.
Surgical Hip Dislocation for Management of Acetabular Osteochondroma in an Adult
Authors: Alexandre H Nehme, Georges F Haidamous, Hicham G Abdelnour, Jad N BouMounsif, Joseph W Wehbe, Ramzi C Moucharafieh
Journal: Case Rep Orthop (2017)
MeSH terms: Case Reports

The purpose of this study is to report a rare case of acetabular osteochondroma with a unique clinical presentation occurring in an adult with normally developed hips. The distinctive size and location of the lesion required an open approach with surgical dislocation of the hip for complete resection.