OpenMed/multicare-articles huggingface dataset:
Lung Adenocarcinoma Patient Harboring EGFR-KDD Achieve Durable Response to Afatinib: A Case Report and Literature Review
Authors: Lingling Zhao, Zhen Wang, Haiwei Du, Songan Chen, Pingli Wang
Journal: Front Oncol (2021)
Keywords: egfr-kdd, afatinib, lung adenocarcinoma, next-generation sequencing, tyrosine kinase inhibitor
MeSH terms: Case Reports

The rapid development of epidermal growth factor receptor (EGFR)-tyrosine kinase inhibitors (TKIs) has revolutionized the treatment of patients with advanced or metastatic non-small cell lung cancer (NSCLC) harboring EGFR mutations including but not limited to exon 19 deletions (19 del) and point mutation L858R in exon 21. However, the efficacy of EGFR-TKIs in patients with rare mutations, such as EGFR-kinase domain duplication (KDD), remains elusive. EGFR-KDD often results from in-frame tandem duplication of EGFR exons 18-25, causing subsequent constitutive activation of EGFR signaling. Several case reports have revealed the efficacies of EGFR-TKIs in advanced lung adenocarcinoma (LUAD) with EGFR-KDD but yielded variable antitumor responses. In the present study, we report a 61-year-old male patient diagnosed with T1N3M0 (stage IIIB) LUAD harboring EGFR-KDD involving exons 18-25. He was treated with afatinib and achieved partial response (PR) with progression-free survival (PFS) of 12 months and counting. Our work, confirming EGFR-KDD as an oncogenic driver and therapeutic target, provides clinical evidence to administer EGFR-TKIs in patients with advanced LUAD harboring EGFR-KDD.
Treatment of Acute Graft-versus-Host Disease in Liver Transplant Recipients
Authors: Edward Kim, Alina Adeel, Adel Bozorgzadeh, Shinya Amano, Curtis T Barry, Jennifer S Daly, Deepika Devuni, Zendee Elaba, Laura Houk, Paulo N Martins, Babak Movahedi, Muthalagu Ramanathan, Nicole M Theodoropoulos
Journal: Case Rep Transplant (2021)
MeSH terms: Case Reports

Acute graft-versus-host disease (aGvHD) is a rare complication of liver transplantation associated with high morbidity and mortality. Death typically occurs due to complications related to severe infection, shock, and multiorgan failure. The clinical presentation involves dysfunction of multiple organ systems with overlapping symptoms that often results in a diagnostic delay. As there are a limited number of cases reported in the literature, there are no clear guidelines for treatment. Many different therapeutic measures have been utilized that target various immune system pathways, but steroids remain the first line of therapy. We report on two patients who developed aGvHD after liver transplantation who were treated with ruxolitinib, a novel Janus kinase 1/2 (JAK) inhibitor that has been shown to improve outcomes in steroid refractory cases of aGvHD after allogenic hematopoietic stem cell transplantation. We reviewed the literature to discuss various therapeutic options currently available for aGvHD after liver transplantation.
Epithelial Downgrowth after Intraocular Surgery Treated with Intracameral 5-Fluorouracil
Authors: Nina Ni, Marc A Goldberg, Ralph C Eagle Jr, Christopher J Rapuano, Julia A Haller
Journal: Case Rep Ophthalmol Med (2015)

Purpose. To present the clinical and histopathologic correlation of two cases of epithelial downgrowth (EDG) after prior intraocular surgery. Methods. Observational case reports. Results. We present two cases of EDG occurring after intraocular surgery. In both cases, after two anterior chamber injections of 5-fluorouracil (5FU), the area of EDG initially regressed. In Case 1, a limited area of EDG eventually recurred, and penetrating keratoplasty with cryotherapy was curative. In Case 2, subsequent corneal edema required Descemet-stripping automated endothelial keratoplasty, and the patient remained clinically free of EDG without further treatment. Conclusion. Intracameral 5FU may have a role in the treatment of EDG after intraocular surgery, though its precise utilization and impact remain to be defined.
Clinical treatment of diabetic foot ulcer combined with Budd-Chiari syndrome: A case report
Authors: Lei Fan, Huan Luo, Bing Liu, Xianen Fa, Tao Liu, Chao Ma
Journal: Medicine (Baltimore) (2019)
MeSH terms: Budd-Chiari Syndrome / surgery, Debridement / methods, Diabetic Foot / surgery, Drainage / methods, Skin Transplantation / methods, Case Reports, Budd-Chiari Syndrome / complications, Diabetic Foot / complications, Humans, Male, Middle Aged

Rationale:
Diabetic foot ulcer is a severe complication of diabetes, and most patients with diabetic foot ulcer require amputation. The incidence of Budd-Chiari syndrome is low; it is relatively rare. Diabetic foot ulcer combined with Budd-Chiari syndrome has not been reported so far.
Patient concerns:
A 52-year-old man presented with uncontrolled high body temperature, continued expansion of the lower leg and foot ulcer with increasing malodor.
Diagnosis:
The patient was diagnosed with Wagner grade 4 diabetic foot ulcer combined with Budd-Chiari syndrome.
Interventions:
Critical treatment was performed immediately after his admission to the hospital. After the patient's condition was stable, we performed an interventional procedure to relieve the inferior vena cava obstruction. Debridement was then performed on the diabetic foot ulcer. Finally, skin grafting was performed due to condition of the wound. We completed moist healing and vacuum sealing drainage throughout the treatment process.
Outcomes:
The patient was hospitalized for 56 days, and all his right lower extremity ulcers eventually healed.
Lessons:
In the treatment of diabetic foot ulcer combined with Budd-Chiari syndrome, it is necessary to develop a unified treatment plan that includes the timely treatment of Budd-Chiari syndrome upon admission, the strategic use of debridement, and the application of moist healing and vacuum sealing drainage.
Utility of an Anterior Tibial Perforator for Skin Paddle Viability in Through-and-Through Defects of the Mandible
Authors: Ivan E Rodriguez, Becky B Trinh, Frederic W-B Deleyiannis
Journal: Eplasty (2018)
Keywords: anterior tibial artery, de-epithelialization, fibular free flap, flow-through technique, mandibular reconstruction
MeSH terms: Case Reports

Objective: The present report describes an alternative technique of using a flow- through, double-paddle, fibular, osteocutaneous free flap based on one perforator from the peroneal system and one perforator from the anterior tibial system for a through-and-through mandibular defect. Methods: The patient was a 65-year-old man who underwent a composite resection of the floor of the mouth, mandible, and chin pad due to recurrent oral cavity squamous cell carcinoma. The fibula was harvested with one posterior-lateral septal perforator from the peroneal system and with a second skin perforator from the anterior tibial system to perfuse a 15 × 14 cm skin island. The anterior tibial perforator was anastomosed to the distal end of the peroneal artery in a flow-through technique, and the area between the peroneal and tibial perforators was de-epithelialized to reconstruct separately the floor of mouth and cutaneous defects. Results: Good inflow and outflow of both skin islands were noted at the end of the procedure, and the patient recovered successfully without any fistulas or donor site morbidity. Conclusions: Perforators from the anterior tibial system should be considered for large, through-and-through mandibular defects when using 2 perforators from the peroneal system is not possible. In addition, we believe the flow-through technique can be useful in patients with vessel-depleted necks and provides a suitable match for vessel size between an anterior tibial perforator and the distal end of the peroneal system.
Autoimmune Encephalitis in Long-Standing Schizophrenia: A Case Report
Authors: Amy Vaux, Karen Robinson, Burcu Saglam, Nathan Cheuk, Trevor Kilpatrick, Andrew Evans, Mastura Monif
Journal: Front Neurol (2022)
Keywords: nmda antibody, nmda encephalitis, autoimmune encephalitis, case report, chronic schizophrenia, diagnostic dilemma, neuropsychiatric disorders
MeSH terms: Case Reports

Anti-N-methyl-D-aspartate (NMDA) receptor antibody (anti-NMDAR Ab)-mediated encephalitis is an autoimmune disorder involving the production of antibodies against NMDARs in the central nervous system that leads to neurological or psychiatric dysfunction. Initially described as a paraneoplastic syndrome in young women with teratomas, increased testing has found it to be a heterogeneous condition that affects both the sexes with varying clinical manifestations, severity, and aetiology. This case report describes a 67-year-old man with a 40-year history of relapsing, severe, treatment-refractory schizophrenia. Due to the worsening of his condition during a prolonged inpatient admission for presumed relapse of psychosis, a revisit of the original diagnosis was considered with extensive investigations performed including an autoimmune panel. This revealed anti-NMDAR Abs in both the serum and cerebrospinal fluid on two occasions. Following treatment with intravenous immunoglobulin and methylprednisolone, he demonstrated rapid symptom improvement. This is a rare case of a long-standing psychiatric presentation with a preexisting diagnosis of schizophrenia subsequently found to have anti-NMDAR Ab-mediated encephalitis. Whether the case is one of initial NMDAR encephalitis vs. overlap syndrome is unknown. Most importantly, this case highlights the need for vigilance and balanced consideration for treatment in cases of long-standing psychiatric presentation where the case remains treatment refractory to antipsychotics or when atypical features including seizures and autonomic dysfunction or focal neurology are observed.
A Large Sublingual Dermoid Cyst Causing Dysphagia and Dysphonia: A Case Review Study
Authors: Mohsen Barzegar, Yasamin Akhavan-Tafti, Hamid Reza Soltani, Mohammad Goodarzi
Journal: Case Rep Dent (2023)
MeSH terms: Case Reports

A seventeen-year-old girl was referred to the emergency department with dysphagia and dyspnea due to large swelling in the floor of the mouth after 20 days of evaluation. Magnetic resonance imaging shows a well-defined sublingual mass measuring 70 mm × 74 mm × 46 mm, causing severe oral and oropharyngeal space narrowing. The surgical excision of the lesion was performed through an intraoral approach under general anesthesia. Moreover, the pathologist reported a dermoid cyst. A dermoid cyst rapidly enlarging can lead to a life-threatening condition, particularly if they grow near main upper airway structures, so their resection in golden time has an especially clinical importance.
Osteolytic bone lesions, severe hypercalcemia without circulating blasts: unusual presentation of childhood acute lymphoblastic leukemia
Authors: Achour Bechir, Regaieg Haifa, Ben Abdelkader Atef, Bouslema Emna, Achour Asma, Ben Sayed Nesrine, Ben Youssef Yosra, Khelif Abdrrahim
Journal: Pan Afr Med J (2017)
Keywords: acute lymphoblastic leukemia, childhood, hypercalcemia, osteolytic bone lesions
MeSH terms: Hypercalcemia / etiology, Osteolysis / etiology, Precursor Cell Lymphoblastic Leukemia-Lymphoma / diagnosis, Case Reports, Antineoplastic Agents / administration & dosage, Biopsy, Child, Preschool, Diagnosis, Differential, Fatal Outcome, Humans, Male, Precursor Cell Lymphoblastic Leukemia-Lymphoma / pathology, Tomography, X-Ray Computed, Antineoplastic Agents

Hypercalcemia and severe osteolytic lesions are rare complications of acute lymphoblastic leukemia (ALL) in childhood. We report a case of a 3 years old boy who presented with prolonged fever, nausea, vomiting and increasing lower limbs pain. Skeletal X-rays and CT scan showed severe osteolytic lesions of the skull and extremities. Her physical examination showed multiple cervical lymph nodes. In laboratory tests, he had severe hypercalcemia. Parathyroid hormone (PTH) was not elevated. Despite the absence of circulating blasts, bone marrow biopsy revealed B-precursor (ALL). Hypercalcemia was initially treated with intravenous isotonic sodium chloride solution and diuretics but the serum calcium level normalized only after the beginning of corticosteroids and chemotherapy. The child responded initially to chemotherapy and eventually relapsed and died of septic shock. Acute leukemia must be considered in differential diagnosis in patients with hypercalcemia. A detailed examination even when there no circulating blasts in their peripheral blood smear, and if in doubt bone marrow aspiration should must be taken into consideration.
Multidetector dual-energy CT evaluation of combined partial anomalous pulmonary venous return and bronchial atresia
Authors: Konstantinos Stefanidis, Charles Sayer, Ioannis Vlahos
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Partial anomalous venous return (PAPVR) and bronchial atresia (BA) represent rare congenital abnormalities of the lung. Missed diagnosis and misdiagnosis are very common in these patients. Although usually distinct entities, it appears that, in rare cases, they may co-exist owing to inter-related complex embryogenic development. We report a case of a 59-year-old male with both PAPVR and BA that were incidentally detected during a CT pulmonary angiogram and review the literature to suggest the pathogenetic developmental mechanism for this entity. This case demonstrates the utility of multidetector dual-energy CT in delineating the vascular and bronchial anatomy of this complex lung and vascular anomaly. Although uncommon, radiologists should be aware of PAPVR and BA and the coexistence of these two rare lung congenital abnormalities.
Diffuse Gallium-67 Accumulation in the Left Atrial Wall Detected Using SPECT/CT Fusion Images
Authors: Kohei Kotani, Joji Kawabe, Shigeaki Higashiyama, Atsushi Yoshida, Susumu Shiomi
Journal: Case Rep Radiol (2016)
MeSH terms: Case Reports

Gallium-67 scintigraphy is useful for detecting active inflammation. We show a 66-year-old female patient with atrial fibrillation and diffuse thickening of the left atrial wall due to acute myocarditis, who presented diffuse abnormal accumulation of gallium-67 in the left atrium on single photon emission computed tomography/computed tomography (SPECT/CT) fusion images. In the second gallium-67 scan 2 months after the first scintigraphy, the abnormal accumulation in the heart was no longer visible. Gallium-67 SPECT/CT images helped understanding the disease condition that temporary inflammation in the left atrium caused atrial fibrillation.
Delayed onset malignant hyperthermia after sevoflurane
Authors: K Sanem Cakar Turhan, Volkan Baytaş, Yeşim Batislam, Oya Ozatamer
Journal: Case Rep Anesthesiol (2013)

Malignant hyperthermia is a hypermetabolic response to inhalation agents (such as halothane, sevoflurane, and desflurane), succinylcholine, vigorous exercise, and heat. Reactions develop more frequently in males than females (2 : 1). The classical signs of malignant hyperthermia are hyperthermia, tachycardia, tachypnea, increased carbon dioxide production, increased oxygen consumption, acidosis, muscle rigidity and rhabdomyolysis. In this case report, we present a case of delayed onset malignant hyperthermia-like reaction after the second exposure to sevoflurane.
Can the concept of Health Promoting Schools help to improve students' health knowledge and practices to combat the challenge of communicable diseases: Case study in Hong Kong?
Authors: Albert Lee, Martin C S Wong, Vera M W Keung, Hilda S K Yuen, Frances Cheng, Jennifer S Y Mok
Journal: BMC Public Health (2008)
MeSH terms: Communicable Disease Control / methods, Health Knowledge, Attitudes, Practice, Health Promotion / methods, School Health Services / organization & administration, Students / psychology, Adolescent, Awards and Prizes, Cross-Sectional Studies, Educational Status, Female, Hong Kong / epidemiology, Humans, Hygiene, Male, Organizational Case Studies, Program Evaluation, Students / statistics & numerical data, Surveys and Questionnaires

Background:
The growing epidemics of emerging infectious diseases has raised the importance of a setting approach and include the Health Promoting School (HPS) framework to promote better health and hygiene. Built on the concept of 'the' HPS framework, the Hong Kong Healthy Schools Award scheme includes "Personal Health Skills" as one of its key aspects to improve student hygiene knowledge and practices. This study examines the differences in student perceptions, knowledge and health behaviours between those schools that have adopted the HPS framework and those that have not adopted.
Methods:
A cross-sectional study using multi-stage random sampling was conducted among schools with awards (HSA) and those schools not involved in the award scheme nor adopting the concept of HPS (non-HPS). For HSA group, 5 primary schools and 7 secondary schools entered the study with 510 students and 789 students sampled respectively. For the 'Non-HPS' group, 8 primary schools and 7 secondary schools entered the study with 676 students and 725 students sampled respectively. A self-administered questionnaire was used as the measuring instrument.
Results:
Students in the HSA category were found to be better with statistical significance in personal hygiene practice, knowledge on health and hygiene, as well as access to health information. HSA schools were reported to have better school health policy, higher degrees of community participation, and better hygienic environment.
Conclusion:
Students in schools that had adopted the HPS framework had a more positive health behaviour profile than those in non-HPS schools. Although a causal relationship is yet to be established, the HPS appears to be a viable approach for addressing communicable diseases.
Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia
Authors: Jamie Willows, Maryam Al Badi, Chloe Richardson, Aisha Al Sinani, Noel Edwards, Sarah Rice, John A Sayer
Journal: F1000Res (2019)
Keywords: trpm6, hypomagnesaemia, molecular genetics, with secondary hypocalcaemia
MeSH terms: Magnesium / blood, Case Reports, Child, Humans, Mutation, Magnesium

Genetic mutations causing familial hypomagnesaemia syndromes are well-recognised. Affected patients can present with severe symptoms of hypomagnesaemia, such as seizures or cardiac arrhythmia. We report an affected child, from a consanguineous family, who presented in the first weeks of life with seizures secondary to hypomagnesaemia, without other associated clinical features. We performed whole exome sequencing in the affected child and segregation analysis within the family, which revealed a novel homozygous missense mutation in TRPM6, which was confirmed as a heterozygous allele in both parents and two younger siblings who had transient hypomagnesaemia. Using in silico modelling, we provide evidence that the missense variant p.(K1098E) in TRPM6 is pathogenic, as it disrupts stabilising TRP domain interactions. Management of familial hypomagnesaemia relies on prompt recognition, early magnesium replacement and lifelong monitoring.
Aripiprazole disrupts cellular synchrony in the suprachiasmatic nucleus and enhances entrainment to environmental light-dark cycles in mice
Authors: Ruoshi Li, Kosaku Masuda, Daisuke Ono, Takashi Kanbayashi, Arisa Hirano, Takeshi Sakurai
Journal: Front Neurosci (2023)
Keywords: scn, aripiprazole, circadian rhythm, desynchronization, entrainment, jet-lag, sleep disorder

Many patients with psychiatric conditions, such as bipolar disorder and major depressive disorder, frequently experience disruptions in their sleep-wake cycles. Several case studies and clinical trials have shown that the administration of aripiprazole, a commonly prescribed antipsychotic drug, alleviates the symptoms of circadian sleep disorders in these patients. This improvement may be attributed to the effects of aripiprazole on the circadian central clock, specifically the hypothalamic suprachiasmatic nucleus (SCN), which regulates various circadian physiological rhythms, including the sleep-wake cycle, in mammals. To examine whether aripiprazole facilitates adaptation to changes in the light-dark cycle, we orally administered aripiprazole to mice and subjected them to jet-lag experiments. Mice receiving aripiprazole were more rapidly entrained to 6 h advanced light-dark cycles. Moreover, we examined the effect of aripiprazole on the cellular rhythms of SCN slice cultures and found that aripiprazole disrupted cellular synchronization in the SCN, thereby accelerating the damping of the SCN rhythm at the population level. Adenosine 3'5' monophosphate (cAMP) assay using a bioluminescence indicator revealed that intracellular cAMP level in the SCN increased following aripiprazole treatment. However, this increase was blocked by pre-treatment with the serotonin 1A receptor (5-HT1AR) antagonist. Based on these findings, we propose that aripiprazole modulates intracellular signaling, including 5-HT1AR-mediated cAMP signaling, and desynchronizes SCN neurons, ultimately leading to enhanced entrainment to phase advanced light-dark cycles in mice. These findings indicate that the improvement in sleep symptoms reported in patients with psychiatric disorders receiving aripiprazole may be due to modulation of the circadian clock. Our study provides novel insights into the potential clinical applications of aripiprazole in patients with various circadian sleep disorders.
Acute Brucellosis Presenting with Bleeding Tendency due to Isolated Severe Thrombocytopenia
Authors: M Aon, T Al-Enezi
Journal: Case Rep Infect Dis (2018)
MeSH terms: Case Reports

Mild anemia and leukopenia are the most common hematologic findings in the course of acute brucellosis. Severe form of thrombocytopenia is less frequently reported. We describe a case of acute brucellosis in a 20-year-old man, who presented with fever, purpuric skin lesions, epistaxis, and hematuria. The absolute platelet count was 2 × 109/L. The patient was diagnosed as suffering from brucellosis on the basis of a strongly positive serologic reaction and was treated with antibiotics and a short course of corticosteroids, with a rapid rise in platelet count. Brucella infection can cause immune-mediated thrombocytopenia that is reversible after appropriate antimicrobial therapy and steroid treatment.
Case report: Intracranial lesions of cat-scratch disease mimicking an atypical meningioma
Authors: Qiang Fang, Pengju Wang, Shanshan Qin, Shangxin Liu, Jingzhen He
Journal: Front Neurol (2023)
Keywords: bartonella henselae, cat-scratch disease (csd), computed tomography, magnetic resonance imaging, meningioma–pathology
MeSH terms: Case Reports

Objectives:
Cat-scratch disease (CSD) is an infectious disease caused by Bartonella henselae. The most typical symptom of patients with CSD is regional lymphadenopathy, while central nervous system lesions related to CSD are rare. Here, we present a case of an aged woman with CSD involving the dura mater with a manifestation similar to that of an atypical meningioma.
Methods:
The patient was followed up by our neurosurgery and radiology teams. Clinical information was recorded, and the pre- and post-operation CT results and magnetic resonance imaging (MRI) changes were collected. The paraffin-embedded tissue was sampled for the polymerase chain reaction (PCR) test.
Results:
In this study, we present the details of a 54 year-old Chinese woman admitted to our hospital with a paroxysmal headache for 2 years that had worsened in the past 3 months. Brain CT and MRI showed a meningioma-like lesion below the occipital plate. En bloc resection of the sinus junction area was performed. A pathological examination showed granulation tissue and fibrosis with acute and chronic inflammation, granuloma, and central stellate microabscess, which was suspected as the cat-scratch disease. The paraffin-embedded tissue was sampled for a polymerase chain reaction (PCR) test to amplify the corresponding pathogen gene sequence, which was Bartonella henselae.
Conclusion:
The case in our study underscores the fact that the incubation period of CSD may be very long. On the contrary, CSD can involve the meninges, resulting in tumor-like lesions.