OpenMed/multicare-articles huggingface dataset:
Acute adrenal insufficiency associated with tuberculous vertebral osteomyelitis and lymphadenopathy: case report
Authors: Inan Anaforoğlu, Ekrem Algün, Omer Inceçayır, Ciğdem Siviloğlu, Ismail Caymaz
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

A 51-year-old man developed anorexia, dizziness, nausea, vomiting, and weight loss. He had orthostatic hypotension, hyponatremia, hyperkalemia, and hypocortisolemia, and the diagnosis of adrenal insufficiency was made. Magnetic resonance imaging (MRI) showed asymmetrically enlarged adrenal glands. Biopsy of a hypoechoic, enlarged, inguinal lymph node showed caseating granulomas. Lumbar MRI showed vertebral body height loss and abnormal signal in L1 and L2; vertebral biopsy showed chronic, necrotic, caseating granulomatous inflammation consistent with tuberculous osteomyelitis. Clinical improvement occurred with isoniazid, rifampicin, pyrazinamide, and corticosteroids. The differential diagnosis of adrenal insufficiency should include tuberculosis, especially in geographic regions where tuberculosis is endemic.
Oral rehabilitation of Parkinson's disease patient: a review and case report
Authors: Fouad A Al-Omari, Mohammed M Al Moaleem, Sulaiman S Al-Qahtani, Abdullah S Al Garni, Syed Sadatullah, Master Luqman
Journal: Case Rep Dent (2014)

Parkinson's disease is usually seen in adults in their middle and late ages. Most people with this disease are less likely to opt for dental treatments unless it is an acute condition. Tremors caused by Parkinson's disease can make dental appointments, especially prolonged treatments, a challenge. The case presented here was successfully treated with an immediate denture for the partially edentulous maxillary and mandibular arches. Early morning brief appointments were given for the procedure. Patient was instructed to take the prescribed parkinsonism medications 60 to 90 minutes before the appointment to utilize the advantage of its peak response. Sympathetic and caring approach towards the patient was employed to reduce his anxiety during the procedures. Some modification of technics and materials was adopted to suit the special situation.
Cerebral venous thrombosis revealing an ulcerative colitis
Authors: Abdellah Taous, Maha Aït Berri, Taoufik Lamsiah, Brahim Zainoun, Tarik Ziadi, Abdelhadi Rouimi
Journal: Pan Afr Med J (2016)
Keywords: cerebral venous thrombosis, inflammatory bowel diseases, ulcerative colitis
MeSH terms: Colitis, Ulcerative / complications, Intracranial Thrombosis / etiology, Venous Thrombosis / etiology, Case Reports, Colitis, Ulcerative / diagnosis, Female, Humans, Intracranial Thrombosis / diagnosis, Venous Thrombosis / diagnosis, Young Adult

Cerebral venous thrombosis (CVT) has been reported as an uncommon and devastating complication of ulcerative colitis (UC), with an annual incidence varying between 0,5 to 6,7%. It is suspected to be a consequence of the hypercoagulable state occurring during disease relapse. We report a case of 22-year-old female patient presenting with CVT revealing an UC. Our case raises the awareness among health professionals about the inflammatory bowel diseases (IBD) as a rare etiology of CVT, and signifies the importance of considering antithrombotic prophylaxis in all hospitalised IBD patients, especially those with active disease.
Conformal radiotherapy for squamous cell carcinoma of gallbladder: a case report
Authors: Jia-Zhou Hou, Zhao-Chong Zeng, Jing Sun, Yuan Ji
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Background. Squamous cell carcinoma of the gallbladder is a rare disease with symptoms developing late in its course, so that it often presents as an aggressive tumor with a poor prognosis. Case report. We describe a 58-year-old male with a 5-week history of hypodynamia. He was found to have squamous cell carcinoma of the gallbladder with liver invasion and lymph node metastases. He underwent treatment with 3-dimensional conformal radiation therapy (CRT). A follow-up computer tomography (CT) scan showed complete tumor remission 2 months after the completion of CRT. The patient survived for 14 months after the end of treatment and died of multiple liver metastases. Conclusion. The efficacy of radiotherapy in this case is encouraging and suggests a potential role for such therapy in similar cases. The benefit in terms of survival warrants further study.
Prenatal Diagnosis of Holt-Oram Syndrome With a Novel Mutation of TBX5 Gene: A Case Report
Authors: Guan-Nan He, Xue-Yan Wang, Min Kang, Xi-Min Chen, Na Xi, Jing Zhao, Xi Chen
Journal: Front Pediatr (2021)
Keywords: holt-oram syndrome, tbx5 gene, case report, novel mutation, prenatal diagnosis
MeSH terms: Case Reports

Background: Holt-Oram syndrome (HOS) is an autosomal dominant disorder caused by mutations of TBX5 gene. Case presentation: We report a fetus with HOS diagnosed sonographically at 23 weeks of gestation. The fetal parents are non-consanguineous. The fetus exhibited short radius and ulna, inability to supinate the hands, absence of the right thumb, and heart ventricular septal defect (VSD), while the fetal father exhibited VSD and short radius and ulna only. Fetal brother had cubitus valgus and thumb adduction, except for VSD, short radius and ulna. The pregnancy was terminated. Whole-exome sequencing (WES) revealed a novel mutation in the TBX5 (c.510+1G>A) in the fetus inherited from the father. The variant (c.510+1G>A) occurs at splice donor and may alter TBX5 gene function by impact on splicing. It was not previously reported in China. Conclusion: Our case reported a novel mutation in TBX5, which expanded the known genetic variants associated with HOS.
Combination of a Green and a Traditional Method for Estimating Relative and Absolute Ink Age: A Case Study of Ballpoint Pen Ink Dating in Vietnam
Authors: Anh Duc Hoang, Minh Binh Tu, Thi Thao Ta, Manh Hung Hoang
Journal: J Anal Methods Chem (2021)

The dating of ink in questioned documents remains a significant challenge in forensic investigations in Vietnam and other countries. Many forensic examination methods have been usually applied to ensure the highest accuracy of the assessment results while maintaining high environment awareness. In this study, paper characteristics were physically tested to confirm source similarity, and the relative ink dating was established by high-performance thin-layer chromatography (HPTLC). Absolute ink dating by solvent and dye identification was performed by Raman spectrometry-a green technique, using a time-dependent degradation model for crystal violet and the comparison between 2-phenoxyethanol peak intensities. We found that the relative dating of the questioned document was 14 ± 3 months lesser than that of the reference samples, i.e., the absolute age of the questioned samples was estimated to be 24 ± 3 months. The combination of the conventional HPTLC method with the dynamic crystal violet degradation Raman model provides promising results for relative and absolute ink dating of ballpoint pens, which can be applied for documents written 1-15 years prior to the time of examination. The combination of the abovementioned methods demonstrated an acceptable error margin, affording highly practical applications in modern forensic science.
The enigmatic kikuchi-fujimoto disease: a case report and review
Authors: Hassan Tariq, Vinaya Gaduputi, Arsalan Rafiq, Roopalekha Shenoy
Journal: Case Rep Hematol (2014)

We report this case of a 33-year-old African American woman who presented to the clinic with preauricular and submandibular masses that she had noticed 6 weeks earlier. She gave a remote history of noticing bilateral cervical masses 3 years prior to this presentation that had not been investigated at the time and resolved spontaneously. Excisional biopsies of the cervical lymph nodes showed morphologic and immunophenotypic findings suggestive of Kikuchi Fujimoto disease (KFD). KFD is an uncommon, self-limited, and perhaps an underdiagnosed entity with an excellent prognosis. It mimics malignant lymphoma in presentation and therefore an accurate clinicopathological differentiation is crucial.
FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review
Authors: Rami A Ballout, Chadi Al Alam, Penelope E Bonnen, Martina Huemer, Ayman W El-Hattab, Rolla Shbarou
Journal: Front Genet (2019)
Keywords: fbxl4, genetic mutations, mitochondria, mitochondrial dna (mtdna), mitochondrial diseases, mitochondrial fusion, pediatric genetics, rare diseases
MeSH terms: Case Reports

Mitochondrial DNA depletion syndromes (MTDPS) are a group of rare genetic disorders caused by defects in multiple genes involved in mitochondrial DNA (mtDNA) maintenance. Among those, FBXL4 mutations result in the encephalomyopathic mtDNA depletion syndrome 13 (MTDPS13; OMIM #615471), which commonly presents as a combination of failure to thrive, neurodevelopmental delays, encephalopathy, hypotonia, and persistent lactic acidosis. We report here the case of a Lebanese infant presenting to us with profound neurodevelopmental delays, generalized hypotonia, facial dysmorphic features, and extreme emaciation. Whole-exome sequencing (WES) showed the girl as having MTDPS13 with an underlying FBXL4 missense mutation that has been previously reported only twice in unrelated individuals (c.1303C > T). Comprehensive literature search marked our patient as being the 94th case of MTDPS13 reported to date worldwide, and the first from Lebanon. We include at the end of this report a comprehensive mutation review table of all the pathological FBXL4 mutations reported in the literature, using it to highlight, for the first time, a possible founder effect of Arab origins to the disorder, being most prevalent in patients of Arab descent as shown in our mutation table. Finally, we provide a direct comparison of the disorder's clinical manifestations across two unrelated patients harboring the same disease-causing mutation as our patient, emphasizing the remarkable variability in genotype-to-phenotype correlation characteristic of the disease.
Mixed neuroendocrine-non-neuroendocrine neoplasms of the right colon: a case report
Authors: Zakaria El Barkaoui, Mohammed Najih, Aboulfeth El Mehdi, Hicham El Majdoubi, Imane El Messaoudi, Mohamed Amine Essaoudi, Mohamed Bouzroud, Sidi Mohammed Bouchentouf, Hakim El Kaoui, Ahmed Bounaim
Journal: Pan Afr Med J (2021)
Keywords: ascending colon, adenocarcinoma, case report, neuroendocrine tumor g3
MeSH terms: Colonic Neoplasms / diagnosis, Gastrointestinal Neoplasms, Neuroendocrine Tumors / diagnosis, Neuroendocrine Tumors / pathology, Case Reports, Colon / pathology, Humans, Lymph Node Excision, Male, Middle Aged

Mixed neuroendocrine-non neuroendocrine neoplasm (MiNENs) is a rare gastrointestinal neoplasm that has been redefined by the World Health Organization (WHO) in 2017 as the association of two types of components, neuroendocrine and non-neuroendocrine, each of them present in at least 30% of the tumour mass. Small case reports and case series have demonstrated the occurrence of this neoplasm in the colon. We here report the case of a 47-year-old man undergoing colonscopy for anemia. This showed impassable polypoidal tumor budding in the right colic flexure. Computerized tomography (CT) scan and magnetic resonance imaging (MRI) showed the presence of liver metastases. As the tumor was hemorrhagic, right hemicolectomy with lymph node dissection was performed. The histological examination showed MiNEN of the ascending colon. The patient received adjuvant chemotherapy.
Diffuse Alveolar Hemorrhage Associated with Epithelioid Angiosarcoma of the Lung: A Challenging Diagnosis
Authors: Felix Wuest, Andreas Gebhardt, Claudia Grosswendt, Sergej Griff, Antonina Zhilina, Samantha Taber, Jens Kollmeier, Torsten T Bauer
Journal: Case Rep Pulmonol (2023)
MeSH terms: Case Reports

A 68-year-old patient presented with persistent hemoptysis and weight loss. A CT scan showing diffuse bilateral ground-glass opacities and nodules was followed by bronchoscopy. While diffuse alveolar hemorrhage (DAH) could be seen, specimens obtained during bronchoscopy did not provide conclusive histological findings. The decision was made to conduct video-assisted wedge resection, after which histological examinations revealed the diagnosis of bifocal nodular manifestation of an epithelioid angiosarcoma in the lung. Being a rare entity even among sarcomas, these kinds of tumors can be primary lung tissue angiosarcomas or metastatic lesions with primaries in places like the skin, breast, and heart. Treatment usually includes chemotherapy, but prognosis remains grim. This case highlights that in DAH, uncommon causes should be considered, and sufficient probe gathering is the key to early diagnosis and treatment.
A Steep Increase in the HeartLogic Index Predicts COVID-19 Disease in an Advanced Heart Failure Patient
Authors: Ward Heggermont, Pham Anh Hong Nguyen, Chirik-Wah Lau, Kurt Tournoy
Journal: Case Rep Cardiol (2020)
MeSH terms: Case Reports

We present a patient with severe nonischemic cardiomyopathy in whom the HeartLogic algorithm was activated on her Boston Scientific cardioverter defibrillator. She had an out-of-alert state for several months and had clinically "stable" heart failure with no hospitalizations in the last 6 months. A sudden and fast increase of the HeartLogic index preceded her presentation in the emergency ward by several days. The detailed readout of HeartLogic however had some atypical features for heart failure decompensation. The patient presented at the emergency department with an increased dyspnea and a dry cough. Clinical exam showed desaturation and was suggestive for an acute respiratory infection. Subsequent imaging with CT thorax and nasopharyngeal real-time polymerase chain reaction (RT-PCR) confirmed SARS-CoV-2 viral pneumonia (COVID-19). This case illustrates that a timely and detailed analysis of HeartLogic alerts could help in the early differentiation of disease in patients with severe heart failure.
FHIRChain: Applying Blockchain to Securely and Scalably Share Clinical Data
Authors: Peng Zhang, Jules White, Douglas C Schmidt, Gunther Lenz, S Trent Rosenbloom
Journal: Comput Struct Biotechnol J (2018)
Keywords: blockchain, cancer care, clinical data sharing, decentralized app, digital health identity, interoperability, smart contracts

Secure and scalable data sharing is essential for collaborative clinical decision making. Conventional clinical data efforts are often siloed, however, which creates barriers to efficient information exchange and impedes effective treatment decision made for patients. This paper provides four contributions to the study of applying blockchain technology to clinical data sharing in the context of technical requirements defined in the "Shared Nationwide Interoperability Roadmap" from the Office of the National Coordinator for Health Information Technology (ONC). First, we analyze the ONC requirements and their implications for blockchain-based systems. Second, we present FHIRChain, which is a blockchain-based architecture designed to meet ONC requirements by encapsulating the HL7 Fast Healthcare Interoperability Resources (FHIR) standard for shared clinical data. Third, we demonstrate a FHIRChain-based decentralized app using digital health identities to authenticate participants in a case study of collaborative decision making for remote cancer care. Fourth, we highlight key lessons learned from our case study.
Spontaneous regression of a chiari malformation type 1 in a 58-year-old female
Authors: Trevor Gaunt, Sharief Aboelmagd, Hilmar Spohr, Janak Saada
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Studies have established a complex age-related variation of the position of the cerebellar tonsils relative to the foramen magnum (FM). Chiari malformation type 1 (CM1) is generally defined by a protrusion >5 mm from the FM and may be an asymptomatic incidental finding. Symptoms include headache, nausea and neurological disturbances, including trigeminal neuralgia. Moreover, tonsils are often peg shaped and associated with syringohydromyelia. Symptomatic CM1 may be managed with decompression of the posterior cranial fossa, but spontaneous regression in adults has been reported occasionally. Theories include restoration of normal cerebrospinal fluid dynamics around the FM after rupture of subarachnoid adhesions or the syrinx itself during transient episodes of raised intracranial pressure. Supratentorial neurosurgery has also been implicated. We present a 58-year-old female diagnosed with CM1 and no associated syringohydromyelia following MRI investigation of trigeminal neuralgia. Managed medically, she re-presented 6 years later with new neurological symptoms. A subsequent MR study of the posterior cranial fossa showed resolution of the CM1, with only residual tonsillar ectopia. At no point was intracranial intervention performed, nor were there any events that might favour CM1 regression. This case demonstrates spontaneous resolution of CM1 without surgical intervention.
Epstein-Barr Virus Mucocutaneous Ulcer: An Unexpected Diagnosis of a New Entity
Authors: William Howden, Tony Kuo
Journal: Case Rep Otolaryngol (2021)
MeSH terms: Case Reports

Epstein-Barr virus mucocutaneous ulcer (EBVMCU) is a new entity, only recently included in World Health Organisation classification of lymphoid neoplasms. Almost all cases described to date have been in patients with a predisposing risk factor of immunosuppression. This case presents a 21-year-old male admitted with tonsillitis and no overt immunosuppression, who is subsequently diagnosed with EBVMCU of likely iatrogenic origin.
Genital Ulcer of Behçet Disease Localized in the Vagina May Lack Pain, Making It Difficult to Assess
Authors: Soichiro Obata, Koji Kobayashi, Misaki Toda, Etsuko Miyagi, Shigeru Aoki
Journal: Case Rep Rheumatol (2019)
MeSH terms: Case Reports

Genital ulcer is one of the main clinical symptoms of Behçet disease; ulcers mostly occur in the vulva and are usually quite painful. We present an unusual case of Behçet disease wherein a painless genital ulcer was localized in the vagina. Our case is of a 43-year-old woman diagnosed with Behçet disease that was controlled with prednisolone. She became pregnant and developed fever, oral ulcers, and arthralgia at 16 weeks of gestation. Although a relapse of Behçet disease was suspected, ulceration and pain of the vulva were not observed. At 18 and 28 weeks of gestation, a vaginal ulcer was observed during regular prenatal examination, but the patient had no pain or other symptoms in the vulva. The vaginal ulcer healed at 29 weeks of gestation. No recurrence of the vaginal ulcer and other symptoms of Behçet disease were seen on subsequent follow-up examination at 1 month after delivery. Although genital ulcers of Behçet disease are common in the vulva and are generally painful, if they are located in the vagina, they can be painless. If Behçet disease is suspected based on other symptoms, a vaginal examination should be conducted as necessary for accurate evaluation of Behçet disease.
Right ventricular outflow tract tachycardia worsened during pregnancy
Authors: Yibar Kambiré, Lassina Konaté, Georges Rosario Christian Millogo, Elodie Sib, Myriam Amoussou, Lucie Valérie Adélaïde Nebié, Ali Niakara
Journal: Pan Afr Med J (2015)
Keywords: africa, ventricular tachycardia, pregnancy, radiofrequency
MeSH terms: Anti-Arrhythmia Agents / therapeutic use, Catheter Ablation / methods, Pregnancy Complications, Cardiovascular / physiopathology, Tachycardia, Ventricular / complications, Case Reports, Adult, Anti-Arrhythmia Agents / administration & dosage, Drug Therapy, Combination, Female, Flecainide / administration & dosage, Flecainide / therapeutic use, Hospitalization, Humans, Nadolol / administration & dosage, Nadolol / therapeutic use, Pregnancy, Pregnancy Complications, Cardiovascular / therapy, Tachycardia, Ventricular / physiopathology, Tachycardia, Ventricular / therapy, Anti-Arrhythmia Agents, Nadolol, Flecainide

We report the case of a 35 years old woman without underlying heart disease who was diagnosed with a right ventricular outflow tract tachycardia worsened during pregnancy. The diagnosis of ventricular tachycardia was made early in her pregnancy course but the patient had symptoms three months earlier. Her disease course was marked by rhythmic storms during the second trimester of pregnancy that led to three hospitalizations accounting for about two weeks in total. The combination of nadolol 80 mg and flecainide tablets 150 mg improved her rhythmic storms. Radiofrequency allowed a radical cure of this ventricular tachycardia. The patient is now asymptomatic 27 months after radiofrequency treatment.
A potentially fatal complication that may occur during dental treatment: "foreign body aspiration"
Authors: Oguz Eroglu, Hatice Algan-Kaya, Figen Coskun
Journal: Pan Afr Med J (2015)
Keywords: dental treatment, early bronchoscopy, foreign body aspiration
MeSH terms: Dental Care / adverse effects, Epiglottis / pathology, Foreign Bodies / etiology, Hypopharynx / pathology, Respiratory Aspiration / etiology, Case Reports, Dental Implants / adverse effects, Fatal Outcome, Foreign Bodies / complications, Humans, Male, Middle Aged, Needles / adverse effects, Respiratory Aspiration / pathology, Young Adult, Dental Implants

Numerous systemic emergency situations, such as hypotension or allergic reactions, may be encountered during dental treatment. In addition, rare but life-threatening complications such as foreign body aspiration in the air passages may also be seen. Aspirated foreign bodies include teeth, implants, mechanical supports or materials used during procedures. We report two separate cases of aspiration risk developing during the course of dental treatment.
A fused maxillary central incisor and its multidisciplinary treatment: an 18-year follow-up
Authors: Lluís Brunet-Llobet, Jaume Miranda-Rius, Eduard Lahor-Soler, Abel Cahuana
Journal: Case Rep Dent (2014)

Fused teeth may cause aesthetic, spacing, periodontal, eruption, and caries problems. The present case report describes a 7-year-old boy patient with a chief complaint of unerupted maxillary incisor. Radiographic examination indicated a fused tooth which had two fused roots but two independent root canals. A complex management of a fused tooth is really difficult to standardize. In this case an orthodontic, endodontic, and surgical treatment (intentional replantation) allowed the tooth to be retained until 18 years following intervention. Maintenance of the root and alveolar bone in young adults at least until full skeletal maturation should be the main treatment objective.