OpenMed/multicare-articles huggingface dataset:
A case report of amyotrophic lateral sclerosis in a patient with Klippel-Feil syndrome—a familial occurrence: a potential role of TGF-β signaling pathway
Authors: Zygmunt Jamrozik, Malgorzata Gawel, Katarzyna Szacka, Leopold Bakon
Journal: Medicine (Baltimore) (2015)
MeSH terms: Amyotrophic Lateral Sclerosis / complications, Klippel-Feil Syndrome / complications, Signal Transduction, Transforming Growth Factor beta / metabolism, Case Reports, Aged, Humans, Male, Syringomyelia / complications, Transforming Growth Factor beta

The rationale for this article is a description of a unique, familial case of a patient with amyotrophic lateral sclerosis (ALS), a progressive neurodegenerative disorder of unknown etiology coexisting with Klippel-Feil syndrome (KFS), a congenital malformation of cervical vertebrae, characterized by a fusion of minimum 2 cervical vertebrae. We report a 68-year-old man with moderate dysarthria, fasciculations, short neck, hearing deficit, and low posterior hairline. Definite ALS was diagnosed based on neurological abnormalities and electromyography results. Magnetic resonance imaging and computed tomography showed bony abnormalities of the craniocervical junction, fusion of 2 cervical vertebrae, and syringomyelia at the level of C6-C7. KFS phenotype was noted in 2 more family members, and patient's stepsister with KFS phenotype died due to ALS. The pedigree of our family suggests an autosomal-dominant inheritance of both syndromes. Cosegregation of ALS and KFS with an autosomal-dominant trait suggests an impairment of transforming growth factor β signaling pathway, and its potential role is discussed. Further evaluation of patients with autosomal-dominant and sporadic KFS by genetic testing, biochemical measurements, such as plasma transforming growth factor β1, and systematic follow-up electromyography seems warranted.
Severe lower limb lymphoedema successfully treated with a two-stage debulking procedure: a case report
Authors: Adam Hague, Thomas Bragg, Melanie Thomas, Cheryl Pike, Karen Morgan, Amar Ghattaura
Journal: Case Reports Plast Surg Hand Surg (2020)
Keywords: lymphoedema, debulking, lower limb
MeSH terms: Case Reports

Lymphoedema is a chronic condition that has significant functional and psychosocial morbidity. We report a case of severe lower limb lymphoedema successfully treated with a two-stage debulking procedure, highlighting the significant improvements in function and quality of life this operation can have with the appropriate multidisciplinary support.
Afatinib for Advanced Non-small Cell Lung Cancer in a Case With an Uncommon Epidermal Growth Factor Receptor Mutation (G719A) Identified in the Cerebrospinal Fluid
Authors: Chunhua Ma, Chuoji Huang, Dongjiang Tang, Xin Ye, Zhi Li, Renzhong Liu, Ning Mu, Jing Li, Rong Jiang, Juncheng Zhang
Journal: Front Oncol (2019)
Keywords: g719a mutation, nsclc, afatinib, cerebrospinal fluid, leptomeningeal metastases
MeSH terms: Case Reports

Few previous studies of patients with non-small cell lung cancer (NSCLC) and leptomeningeal metastases have used liquid biopsy of cerebrospinal fluid (CSF) to identify epidermal growth factor receptor (EGFR) mutations and guide therapy. A 34-year-old male patient with NSCLC and leptomeningeal metastases was admitted to the Interventional Radiology Department, Tianjin Huanhu Hospital on 18th April 2018 after showing no response to chemoradiotherapy. On admission, the patient was in critical condition with an estimated survival <1 month. A ventriculoperitoneal shunt was placed in the right lateral ventricle. The CSF level of carcinoembryonic antigen (CEA) was 9,869 ng/mL. Next-generation sequencing (NGS) of the CSF revealed an EGFR G719A mutation (frequency: 55.63%), whereas sequencing of circulating tumor DNA or cells in the peripheral blood identified no clinically significant mutations. Afatinib therapy was initiated based on the NGS results. During follow-up, the patient's symptoms improved, ventricular dilatation lessened, and pulmonary lesions decreased in size. At the last follow-up (7 months), the patient continued to show a good response to afatinib therapy with minimal adverse effects. This is the first clinical study to report the use of simultaneous genetic testing of CSF and peripheral blood to guide the successful implementation of afatinib therapy in a patient with NSCLC and leptomeningeal metastases. Notably, NGS of CSF was superior to genetic testing of peripheral blood at identifying an uncommon EGFR mutation (G719A) in a patient with NSCLC and leptomeningeal metastases.
Cardiac troponin T quantitative assay failure as a result of antibody interference
Authors: Philip H Fortgens, Fierdoz Omar
Journal: Afr J Lab Med (2013)
MeSH terms: Case Reports

Background:
Immunoassays are prone to interference by various substances which may cause inaccurate results. This type of interference is difficult to detect analytically.
Objective:
A case of CARDIAC Troponin T Quantitative reader (Roche Diagnostics) assay failure was detected and investigated in order to ascertain the likely cause.
Method:
Patient whole blood was mixed with cardiac troponin T-positive blood, patient and control sera were denuded of immunoglobulin G by protein A-affinity chromatography and patient sera were mixed with mouse serum. Samples were analysed on a CARDIAC Troponin T Quantitative reader.
Results:
A mixture of patient whole blood and cardiac troponin T-positive blood resulted in assay failure; removal of immunoglobulin G from patient sera reversed the cardiac troponin T assay failure; the addition of mouse serum as a heterophile antibody blocking agent had no effect.
Conclusion:
It is proposed that the interference resulting in assay failure may not be because of a heterophile antibody, but rather a result of a circulating autoantibody to cardiac troponin T, which may compete with antibody assay reagents for binding sites.
The Electrocardiogram of an ER Patient With Chest Pain
Authors: Arunkumar Panneerselvam, Rajiv Ananthakrishna, Prabhavathi Bhat, Manjunath C Nanjappa
Journal: Cardiol Res (2011)
Keywords: atrial arrhythmias, electrocardiogram, myocardial infarction
MeSH terms: Case Reports

The electrocardiogram (ECG) is an essential investigation in the evaluation of chest pain in the emergency room (ER). Correct interpretation of the ECG findings, determines the diagnosis and management strategy. This ECG spot diagnosis will improve the skills of the residents and physicians working in ER.
Building a Comprehensive System of Services to Support Adults Living with Long-Term Mechanical Ventilation
Authors: David Leasa, Stephen Elson
Journal: Can Respir J (2016)
MeSH terms: Community Health Services, Respiration, Artificial, Case Reports, Adult, Female, Health Plan Implementation, Humans, Young Adult

Background. Increasing numbers of individuals require long-term mechanical ventilation (LTMV) in the community. In the South West Local Health Integration Network (LHIN) in Ontario, multiple organizations have come together to design, build, and operate a system to serve adults living with LTMV. Objective. The goal was to develop an integrated approach to meet the health and supportive care needs of adults living with LTMV. Methods. The project was undertaken in three phases: System Design, Implementation Planning, and Implementation. Results. There are both qualitative and quantitative evidences that a multiorganizational system of care is now operational and functioning in a way that previously did not exist. An Oversight Committee and an Operations Management Committee currently support the system of services. A Memorandum of Understanding has been signed by the participating organizations. There is case-based evidence that hospital admissions are being avoided, transitions in care are being thoughtfully planned and executed collaboratively among service providers, and new roles and responsibilities are being accepted within the overall system of care. Conclusion. Addressing the complex and variable needs of adults living with LTMV requires a systems response involving the full continuum of care.
An Incidentally Detected Right Ventricular Pseudoaneurysm
Authors: Vamsi C Gaddipati, Angel I Martin, Mauricio O Valenzuela, Asef Mahmud, Aarti A Patel
Journal: Case Rep Cardiol (2017)
MeSH terms: Case Reports

Ventricular pseudoaneurysm is an uncommon, potentially fatal complication that has been associated with myocardial infarction, cardiac surgery, chest trauma, and infectious processes. Diagnosis can be challenging, as cases are rare and slowly progressing and typically lack identifiable features on clinical presentation. As a result, advanced imaging techniques have become the hallmark of identification. Ahead, we describe a patient who presents with acute decompensated heart failure and was incidentally discovered to have a large right ventricular pseudoaneurysm that developed following previous traumatic anterior rib fracture.
Management of streptococcal pneumoniae-induced hemolytic uremic syndrome: a case report
Authors: Lauren Weintraub, Manpreet Ahluwalia, Samriti Dogra, Joan Uehlinger, Amy Skversky, Ljiljana Vasovic
Journal: Clin Nephrol Case Stud (2014)
Keywords: acute kidney injury, hemolytic uremic syndrome, microangiopathic hemolytic anemia, plasma exchange, thrombocytopenia
MeSH terms: Case Reports

Hemolytic uremic syndrome (HUS) secondary to Streptococcus pneumoniae infections (pHUS) has been well reported in the literature and accounts for roughly 5% of all the cases of HUS. However, this condition is likely under-diagnosed and the incidence is believed to be increasing. Given this increase in incidence of pHUS, it is important to have an understanding of the optimal means to manage the disease. We report a case of a 2-year-old male with pneumonia, acute kidney injury (AKI), microangiopathic hemolytic anemia (MAHA), and thrombocytopenia, diagnosed with pHUS and successfully treated with antibiotics, washed red blood cell (RBC) transfusions, plasma exchange (PE) with 5% albumin replacement, steroids, and hemodialysis. The response seen in our patient adds to the current literature and further supports the use of PE with albumin in patients with pHUS.
Coxiella Endocarditis as the Cause of Recurrent Fever and Brain Abscess in a Patient with Complex Congenital Heart Disease: A Case Report and Literature Review
Authors: Ioannis A Ziogas, Alexandros P Evangeliou, Olga Tsachouridou, Alexandra Arvanitaki, Afroditi Tsona, Vassilios Kamperidis, Marianthi Papagianni, Theofilos Panagiotidis, Ilias A Tourtounis, George Giannakoulas, Symeon Metallidis
Journal: Case Rep Infect Dis (2020)
MeSH terms: Case Reports

Introduction:
Blood culture-negative infective endocarditis (BCNIE) can present subtly and is associated with a diagnostic delay leading to increased morbidity and mortality. Case Report. We present the case of an 18-year-old male with a history of complex congenital heart disease and 3-year intermittent episodes of fever of unknown origin, who was referred to our hospital for upper and lower extremity focal seizures. Laboratory blood tests were normal, blood cultures were negative, and brain imaging revealed an abscess. Cardiology consultation was requested, and transthoracic echocardiography revealed an intracardiac vegetation. Empiric antibiotic treatment with sultamicillin, gentamycin, and meropenem was initiated. Serology testing was positive for Coxiella burnetii, and the diagnosis of BCNIE was established. The antibiotic course was changed to oral doxycycline for 36 months and led to resolution of IE, with no vegetation detected on TTE after 15 months.
Conclusion:
BCNIE is a life-threatening disease entity that can lead to severe complications, such as valve regurgitation, emboli, and death. Patients with congenital heart disease are particularly vulnerable to IE. Timely diagnosis and antibiotic management are of paramount importance in order to avoid the potentially fatal sequelae.
Kartagener's syndrome: review of a case series
Authors: Nicola Ciancio, Maria Margherita de Santi, Raffaele Campisi, Laura Amato, Giuseppina Di Martino, Giuseppe Di Maria
Journal: Multidiscip Respir Med (2015)
Keywords: dinein arms, kartagener’s syndome, nasal brushing, primary ciliary dyskinesia, situs inversus, transmission electron microscopy

Background:
Kartagener Syndrome (KS) is a rare autosomal recessive genetic disorder, resulting in a group of clinical manifestations, including bronchiectasis, chronic pansinusitis and situs inversus.
Methods:
We hereby reviewed eight cases of this rare entity selected from patients attending our outpatients Respiratory Unit since 2006. Samples of respiratory epithelium were obtained with the method of nasal brushing and sent to a specialized center in order to be studied with electron microscopy. At least 50 cross sections of different cilia from different cells were observed in each specimen to study the axonemal structure. Electron micrographs were taken at a magnification of X 50,000 to determine the orientation of the cilia and at a magnification of X 110,000 to study the axonemal pattern. The incidence of abnormal cilia was expressed as a percentage.
Results:
We observed different ultrastructural defects in our KS patients, including absence of outer dynein arms, absence of outer and inner dynein arms, and absence of the central pair with transposition of a peripheral doublet into the central position. Patient's follow up lasted till 2014, however two patients with more severe clinical behavior died before.
Conclusions:
This is a review of a case series, yet our data has shown that nasal brushing with ultrastructural pathological differentiation may be useful to identify patients with high risk and to develop more complex clinical presentations.
Peptide receptor radiotherapy: a new option for the management of aggressive fibromatosis on behalf of the Italian Sarcoma Group
Authors: T De Pas, L Bodei, G Pelosi, F De Braud, G Villa, R Capanna, G Paganelli, Italian Sarcoma Group
Journal: Br J Cancer (2003)
MeSH terms: Fibromatosis, Aggressive / radiotherapy, Octreotide / analogs & derivatives, Octreotide / therapeutic use, Radiopharmaceuticals / therapeutic use, Radiotherapy, Adjuvant / methods, Receptors, Peptide / therapeutic use, Case Reports, Adult, Female, Humans, Male, Recurrence, Retrospective Studies, Radiopharmaceuticals, Receptors, Peptide, Octreotide, Edotreotide

The management of aggressive fibromatosis (AF) is problematic, and few options are available to patients unsuitable for surgery and resistant to external-beam radiation therapy (EBRT). We report on two patients with fast-growing recurrences of AF resistant to EBRT who obtained protracted clinical benefits with (90)Y-DOTATOC. (90)Y-DOTATOC should be further investigated in this setting.
Recalcitrant Lateral Premalleolar Bursitis of the Ankle Associated with Lateral Ankle Instability
Authors: Masashi Naito, Takumi Matsumoto, Song Ho Chang, Masachika Ikegami, Jun Hirose, Sakae Tanaka
Journal: Case Rep Orthop (2017)
MeSH terms: Case Reports

Lateral premalleolar bursitis of the ankle is a rarely reported disorder in the English literature although it is not uncommon in Asian countries where people commonly sit on their feet. Here, we present the case of a 66-year-old woman with recalcitrant lateral premalleolar bursitis associated with lateral ankle instability which was successfully treated with surgical resection of the bursa and repair of the anterior talofibular ligament. Operative findings revealed a communication between the bursa and articular cavity of the ankle joint via the sheath of the extensor digitorum longus tendon, which was considered to act as a check valve leading to a large and recalcitrant bursitis. This report provides a novel concept about the etiology of recalcitrant lateral premalleolar bursitis of the ankle.
CASE REPORT Complex Wound Closure of Partial Sacrectomy Defect With Human Acellular Dermal Matrix and Bilateral V to Y Gluteal Advancement Flaps in a Pediatric Patient
Authors: J Bryce Olenczak, Matthew G Stanwix, Gedge D Rosson
Journal: Eplasty (2013)

Objective:
Sacrectomy creates a large, complex tissue defect that presents a reconstructive challenge for plastic surgeons. Several myocutaneous flaps have been described for reconstruction following sacral tumor extirpation; however, current publications focus on the reconstructive options applicable to adults. We present a method of reconstruction following sacral tumor extirpation in a pediatric patient.
Methods:
The patient was 22 months old and in need of complex closure following low sacral amputation (S3-S4 osteotomy) and en bloc resection of a yolk sac tumor. Following tumor extirpation, the patient was left with a complex defect including extensive dead space, multiple exposed nerve roots, projection of the rectum into the wound, and inadequate soft tissue for primary closure.
Results:
Reconstruction with human acellular dermal matrix to address the risk of posterior rectal herniation and bilateral gluteal V to Y advancement flaps for obliteration of the dead space allowed for durable closure of the surgical defect.
Conclusions:
This represents the first case report documenting sacral resection and reconstruction with bilateral V to Y gluteal advancement flaps in a pediatric patient.
A young man with bilateral spontaneous pneumothorax
Authors: Liese Lieve Willemien Verhaert
Journal: Case Rep Pulmonol (2011)
MeSH terms: Case Reports

Case. A 33-year-old male nonsmoker presented with sudden onset of dyspnoea and thoracic pain. Chest radiograph showed a left-sided pneumothorax. Few days later he developed a right-sided pneumothorax. He had a positive family history of pneumothorax. High-resolution computed tomography of the chest showed multiple pulmonary cysts predominantly located in the lower lung regions. We suspected Birt-Hogg-Dubé syndrome (BHD). Conclusion. Birt-Hogg-Dubé syndrome is a rare autosomal dominant inherited genodermatosis and characterised by clinical manifestations including hamartomas of the skin, renal tumors, and pulmonary cysts with spontaneous pneumothorax. BHD is probably underdiagnosed because of the wide variability in its clinical expression. It is important to recognize these patients because of the possibility of developing renal cancer.
Case report: Foreign body aspiration requiring extracorporeal membrane oxygenation
Authors: Dylan Ginter, K Taneille Johnson, Oliver Venettacci, Rachel D Vanderlaan, Elaine Gilfoyle, Haifa Mtaweh
Journal: Front Pediatr (2023)
Keywords: ecmo, bronchoscopy, case report, foreign body, intubation, status asthmaticus
MeSH terms: Case Reports

Introduction:
Foreign body aspiration is a common cause of respiratory distress in pediatrics, but the diagnosis can be challenging given aspirated objects are mostly radiolucent on chest radiographs and there is often no witnessed choking event. We present a case of a patient who was initially managed as severe status asthmaticus, requiring veno-arterial extracorporeal membrane oxygenation (VA-ECMO) for refractory hypercarbia and hypoxemia, but was later found to have bilateral bronchial foreign body aspiration. This case is unique in its severity of illness, diagnostic dilemma with findings suggesting a more common diagnosis of asthma, and use of ECMO as a bridge to diagnosis and recovery.
Patient case:
A previously healthy 2-year-old boy presented during peak viral season with a 3-day history of fever, cough, coryza, and increased work of breathing over the prior 24 h. There was no reported history of choking or aspiration. He was diagnosed with asthma and treated with bronchodilator therapy. Physical examination revealed pulsus paradoxus, severe work of breathing with bilateral wheeze, and at times a silent chest. Chest radiographs showed bilateral lung hyperinflation. Following a brief period of stability on maximum bronchodilator therapies and bilevel positive pressure support, the patient had a rapid deterioration requiring endotracheal intubation, with subsequent cannulation to VA-ECMO. A diagnostic flexible bronchoscopy was performed and demonstrated bilateral foreign bodies, peanuts, in the right bronchus intermedius and the left mainstem bronchus. Removal of the foreign bodies was done by rigid bronchoscopy facilitating rapid wean from VA-ECMO and decannulation within 24 h of foreign body removal.
Conclusion:
Foreign body aspiration should be suspected in all patients presenting with atypical history and physical examination findings, or in patients with suspected common diagnoses who do not progress as expected or deteriorate after a period of stability. Extracorporeal life support can be used as a bridge to diagnosis and recovery in patients with hemodynamic or respiratory instability.
An asymptomatic large anterior sacral meningocele in a patient with a history of gestation: a case report with radiological findings
Authors: Mehmet Beyazal
Journal: Case Rep Radiol (2013)

Anterior sacral meningocele is characterized by herniation of the meningeal sac due to a developmental bone defect in the front of a sacrum bone. It was first described in 1837. The sacral meningocele may be congenital or acquired. It is usually discovered during a rectal or pelvic examination as a cystic lesion or discovered incidentally. Most of the symptoms are due to compression on the adjacent organs. In this paper, we present a case of an asymptomatic female patient who had a pelvic cyst detected during a routine obstetric ultrasound examination. We show radiological findings of the detailed postpartum evaluation of the cyst, which led to detection of sacral agenesis, huge anterior sacral meningocele, and significant arcuate uterus.
Tracheal Papilloma Treated with Cryotherapy and Interferon-α: A Case Report and Review of the Literature
Authors: Fatma Yıldırım, Murat Türk, Sedat Demircan, Nalan Akyürek, Ahmet Selim Yurdakul
Journal: Case Rep Pulmonol (2015)

Tracheal papilloma (TP) is characterized by papillomatous growth of the bronchial epithelium that involves the trachea as a response to Human Papilloma Virus (HPV) infection. A 40-year-old male, with 3-month history of progressive dyspnea was admitted to our hospital, and there were no any other respiratory symptoms. Physical examination was unremarkable. Chest computed tomography (CT) showed that there was a papillomatous mass at the distal trachea. The lesion occupied 80% of tracheal lumen. This patient received cryotherapy and mechanical debridement under general anesthesia and postoperative pathology showed endotracheal papillomatosis. Patient was treated with interferon-α (IFN-α) and he showed no recurrence at the 8th month of his therapy.
Cardiac arrest caused by multiple recurrent pulmonary embolism
Authors: Kjartan Eskjaer Hannig, Steen Elkjaer Husted, Erik Lerkevang Grove
Journal: Case Rep Med (2011)
MeSH terms: Case Reports

Pulmonary embolism is a common condition with a high mortality. We describe a previously healthy 68-year-old male who suffered three pulmonary embolisms during a short period of time, including two embolisms while on anticoagulant treatment. This paper illustrates three important points. (1) The importance of optimal anticoagulant treatment in the prevention of pulmonary embolism reoccurrence. (2) The benefit of immediate accessibility to echocardiography in the handling of haemodynamically unstable patients with an unknown underlying cause. (3) Thrombolytic treatment should always be considered and may be life-saving in patients with cardiac arrest suspected to be caused by pulmonary embolism.