OpenMed/multicare-articles huggingface dataset:
Necrotizing Liver Granuloma/Abscess and Constrictive Aspergillosis Pericarditis with Central Nervous System Involvement: Different Remarkable Phenotypes in Different Chronic Granulomatous Disease Genotypes
Authors: Sanem Eren Akarcan, Neslihan Karaca, Guzide Aksu, Halil Bozkaya, Mehmet Fatih Ayik, Yasemin Ozdemir Sahan, Mehmet Arda Kilinc, Zafer Dokumcu, Cenk Eraslan, Emre Divarci, Hudaver Alper, Necil Kutukculer
Journal: Case Reports Immunol (2017)
MeSH terms: Case Reports

Chronic granulomatous disease (CGD) is a primary immune deficiency causing predisposition to infections with specific microorganisms, Aspergillus species and Staphylococcus aureus being the most common ones. A 16-year-old boy with a mutation in CYBB gene coding gp91phox protein (X-linked disease) developed a liver abscess due to Staphylococcus aureus. In addition to medical therapy, surgical treatment was necessary for the management of the disease. A 30-month-old girl with an autosomal recessive form of chronic granulomatous disease (CYBA gene mutation affecting p22phox protein) had invasive aspergillosis causing pericarditis, pulmonary abscess, and central nervous system involvement. The devastating course of disease regardless of the mutation emphasizes the importance of early diagnosis and intervention of hematopoietic stem cell transplantation as soon as possible in children with CGD.
A Case of Orbital Myiasis in Recurrent Eyelid Basal Cell Carcinoma Invasive into the Orbit
Authors: Triptesh Raj Pandey, Gulshan Bahadur Shrestha, Ranju Kharel Sitaula, Dev Narayan Shah
Journal: Case Rep Ophthalmol Med (2016)

Introduction. Orbital myiasis is the infestation of the orbital tissues by fly larvae or maggots. Compromise of periorbital tissues by malignant disease, surgery, ischemia, or infection may predispose the patient to orbital myiasis. Case Report. A 73-year-old male patient with neglected recurrent basal cell carcinoma of the eyelid invasive into the orbit presented with complaints of intense itching and crawling sensation with maggots wriggling and falling from the wound of left orbit. The patient improved following manual removal of the maggots along with oral Ivermectin treatment. Recurrence of the basal cell carcinoma was confirmed by punch biopsy from the wound and extended exenteration of the orbit followed by reconstructive surgery was done. Conclusion. Orbital myiasis is a rare and preventable ocular morbidity that can complicate the malignancies resulting in widespread tissue destruction. The broad spectrum antiparasitic agent, Ivermectin, can be used as noninvasive means to treat orbital myiasis. In massive orbital myiasis and those associated with malignancies, exenteration of the orbit must be seriously considered.
Lafora Disease during a Seven-Year Period, Bosnian and Herzegovinian experience
Authors: Edin Begic, Haris Bradaric, Zijo Begic, Amra Dobraca
Journal: Iran J Child Neurol (2019)
Keywords: lafora disease, nhlrc1 mutation, progressive myoclonus epilepsy
MeSH terms: Case Reports

Lafora progressive myoclonus epilepsy (Lafora disease, LD) is a fatal autosomal recessive neurodegenerative disorder (with an onset in teenage years in previously normal adolescents). This paper represents a view of a patient diagnosed with Lafora progressive myoclonus epilepsy, over a course of seven years. A description of the initial manifestation of symptoms, doctors' attempts to combat the symptoms with drug treatment, further attempts towards reaching the correct diagnosis, the final confirmation of the Lafora diagnosis (mutation in the NHLRC1 gene), and the current state of the patient is presented. The absence of a positive family history, the lack of staff specialized in dealing with this or similar pathology, and the diagnostic inability to characterize this type of disorder in Bosnia and Herzegovina have led to a fair delay in diagnosing and beginning of an adequate pharmacological treatment. Overall, recent identification of LD cases in Bosnia and Herzegovina warrants an establishment of a Centre for Genetic Testing in order to ensure more humane counseling of an entire family whose family member(s) might be diagnosed with this devastating and currently an incurable disorder.
Case report: New is not always better: treatment of non-bacterial thrombotic endocarditis
Authors: Elias Akiki, Ali Ahmad, Edward A El-Am, Ana I Casanegra, Kyle W Klarich, Reto Kurmann
Journal: Front Cardiovasc Med (2023)
Keywords: doac, anticoagulation, apixaban, embolic stroke, heparin, non-bacterial thrombotic endocarditis, warfarin
MeSH terms: Case Reports

An elderly female with metastatic adenocarcinoma of the lung and atrial fibrillation presented with multiple embolic strokes while on anticoagulation with Apixaban. After further investigation, a TEE showed lesions of non-bacterial thrombotic endocarditis on the mitral valve. A decision to switch the patient to LMWH for anticoagulation was then made and a follow-up TEE showed resolution of the NBTE. In this abstract, we show that heparin should remain as the anticoagulation agent of choice in the setting of NBTE associated with malignancy.
Sleep Monitoring Using WatchPAT Device to Predict Recurrence of Major Depression in Patients at High Risk for Major Depression Disorder Recurrence: A Case Report
Authors: Daniel Harlev, Ramit Ravona-Springer, Yonatan Nuriel, Eyal Fruchter
Journal: Front Psychiatry (2021)
Keywords: watchpat, ambulatory, major depressive disorder, rapid eye movement sleep, sleep
MeSH terms: Case Reports

Background: Major depressive disorders are strongly correlated with alterations in sleep pattern and architecture, including changes in the Rapid Eye Movement (REM) phase. However, it is still unknown whether sleep alterations precede other depression-related symptoms, particularly in patients with recurrent depressive episodes at relapse risk. Case Presentation: We initiated a study aimed at examining the value of ambulatory sleep monitoring using a WatchPAT device, in predicting recurrence of Major depression. Depression was assessed monthly with the Beck Depression Inventory version II (BDI-II). Here we present the case of a 63 years old woman, with a history of recurrent depressive episodes. AT the time of recruitment, she was asymptomatic, she experienced recurrence of Major depression 3 months into the study. We observed a significant reduction of the Rem Latency parameters 5 weeks prior to BDI-II score increase, reflecting major depressive episode recurrence. Conclusion: Though our results are preliminary, they suggest that ambulatory sleep monitoring can be used as a simple and accessible tool, predicting recurrence of Major Depressive episodes in patients at high risk, thus enabling early treatment intervention.
Case Report: Management of Primary Tracheobronchial Light Chain Amyloidosis in a Patient With Biclonal Gammopathy Using a Systemic Bortezomib-Based Regimen
Authors: Wei Yan, Peng Li, Cen Wu, Chuming Zhou, Aijun Liao, Wei Yang, Huihan Wang
Journal: Front Med (Lausanne) (2021)
Keywords: biclonal gammopathy, case report, dyspnea, light chain (al) amyloidosis, systemic chemotherapy, tracheobronchial amyloidosis
MeSH terms: Case Reports

Primary tracheobronchial light chain (AL) amyloidosis is a rare and heterogeneous disease characterized by the buildup of amyloid deposits in the airway mucosa. Although its treatment remains challenging, the current view is that the localized form can be treated conservatively due to its slow progression. While radiotherapy has proven effective in treating localized form of the disease, some patients do not respond to local treatment and continue to experience poor quality of life, highlighting the need to explore additional treatment strategies. In this report, we discuss a case of primary tracheobronchial AL amyloidosis with biclonal gammopathy (IgA κ and IgG κ) in a 46-year-old man who was transferred to our hospital due to dyspnea progression over the preceding 3 years. Chest computed tomography revealed irregular tracheobronchial stenosis with wall thickening, and histological examination of the bronchial biopsies confirmed the diagnosis of endobronchial AL amyloidosis. Owing to the poor effect of radiation therapy and treatments for improving airway patency, he was treated with a systemic chemotherapy regimen [cyclophosphamide-bortezomib-dexamethasone (CyBorD)]. We observed substantial improvements in his dyspnea, highlighting the potential of systemic therapy to improve quality of life of patients with tracheobronchial AL amyloidosis. However, the long-term pathological changes associated with local bronchial lesions require further investigation.
Case Report: Whole-Exome Sequencing of Hypothalamic Hamartoma From an Infant With Pallister-Hall Syndrome Revealed Novel de novo Mutation in the GLI3
Authors: Yue Yang, Fang Shen, Xie-Pan Jing, Nu Zhang, Shang-Yu Xu, Dan-Dong Li, Ling-Li Zhou, Guang-Hui Bai, Huang-Yi Fang, Zhong-Ding Zhang, Chen Pang, Jian Lin, Han-Song Sheng
Journal: Front Surg (2021)
Keywords: gli3, pallister-hall syndrome, hypothalamic hamartoma, molecular profiling, surgical resection, whole-exome sequencing
MeSH terms: Case Reports

Background: GLI-Kruppel family member 3 (GLI3), a zinc finger transcription factor of the sonic hedgehog pathway, is essential for organ development. Mutations in GLI3 cause several congenital conditions, including Pallister-Hall syndrome (PHS), which is characterized by polydactyly and hypothalamic hamartoma. Most patients are diagnosed soon after birth, and surgical removal of hypothalamic hamartoma in the very young is rarely performed because of associated risks. Case presentation: A 7-month-old boy with PHS features, including a suprasellar lesion, bifid epiglottis, tracheal diverticulum, laryngomalacia, left-handed polydactyly and syndactyly, and omental hernia was referred to our service. His suprasellar lesion was partially removed, and whole-exome sequencing was applied to the resected tumor, his peripheral blood, and blood from his parents. Histopathology confirmed the diagnosis of hypothalamic hamartoma, and molecular profiling revealed a likely pathogenic de novo variant, c.2331C>G (p. H777Q), in GLI3. Magnetic resonance imaging follow-up 1 year later showed some residual tumor, and the patient experienced normal development post operation. Conclusions: We presented a case of PHS that carries a novel GLI3 variant. Hypothalamic hamartoma showed a distinct genetic landscape from germline DNA. These data offer insights into the underlying etiology of hypothalamic hamartoma development in patients with PHS.
Cutaneous candidiasis caused by Candida kefyr
Authors: Rosani Sri Camelia Nurdin, Sri Vitayani, Safruddin Amin, Dirmawati Kadir, Widyawati Djamaluddin, Anni Adriani
Journal: Pan Afr Med J (2021)
Keywords: candida kefyr, cutaneous candidiasis, fermentation test
MeSH terms: Antifungal Agents / administration & dosage, Candidiasis, Cutaneous / diagnosis, Kluyveromyces / isolation & purification, Case Reports, Aged, Candidiasis, Cutaneous / drug therapy, Candidiasis, Cutaneous / microbiology, Erythema / microbiology, Female, Fusidic Acid / administration & dosage, Humans, Miconazole / administration & dosage, Pruritus / microbiology, Treatment Outcome, Antifungal Agents, Fusidic Acid, Miconazole, Kluyveromyces marxianus

Candidiasis is an acute or subacute fungal infection caused by fungi that belongs to candida genus, with Candida albicansbeing the most frequent causative agent. Candida kefyr is a rare cause of candidiasis which has been reported in systemic candidiasis and deep infections. However, to date, it has never been reported as a cause in dermatophytosis. We report a case of candidiasis caused by Candida kefyr in a 72-year-old woman with a chief complaint of pruritic erythematous rash on the back from one day prior to admission. Diagnosis was established based on clinical features, direct microscopic examination with 10% potassium hydroxide solution, gram staining. The fungal species was determined by carbohydrate fermentation test which showed a positive result for Candida kefyr. The patient was treated with miconazole cream and fusidic cream and showed significant clinical improvement.
Clonal Hypereosinophilia with ETV6 Rearrangement Evolving to T-Cell Lymphoblastic Lymphoma: A Case Report and Review of the Literature
Authors: Filipa Moita, Isabel Bogalho, Helena Alaiz, Joana Parreira, Maria Jesus Frade, Albertina Nunes, Maria Gomes da Silva
Journal: Case Rep Hematol (2013)

Hypereosinophilia, either clonal or reactive, has been described in association with multiple hematological malignancies. We describe a case of a patient presenting with hypereosinophilia that evolved into T-cell lymphoblastic lymphoma. Complete remission was achieved with chemotherapy; however, hypereosinophilia recurred 5 months later in association with myeloblastic bone marrow infiltration and without evidence of lymphoblastic lymphoma relapse. Cytogenetic analysis of the bone marrow showed a complex translocation involving chromosomes 7, 12, and 16. A rearrangement of ETV6 gene (12p13) was demonstrated by FISH studies, thus confirming the clonality of this population. The association of lymphoblastic lymphoma, eosinophilia, and myeloid hyperplasia has been described in disorders with FGFR1 rearrangements. We hypothesize that other clonal eosinophilic disorders lacking this rearrangement could behave in a similar fashion through different pathogenic mechanisms.
Emphysematous cystitis and emphysematous pyelitis: a clinically misleading association
Authors: Mustapha Ahsaini, Amadou Kassogue, Mohammed Fadl Tazi, Anas Zaougui, Jalal Edine Elammari, Abdelhak Khallouk, Mohammed Jamal El Fassi, My Hassan Farih
Journal: Pan Afr Med J (2013)
Keywords: diabetic, emphysematous cystitis, bladder catherization, computed tomography, urinary tract infection
MeSH terms: Cystitis / complications, Cystitis / diagnosis, Emphysema / complications, Emphysema / diagnosis, Pyelonephritis / complications, Pyelonephritis / diagnosis, Case Reports, Retracted Publication, Diabetes Complications / diagnosis, Diagnosis, Differential, Escherichia coli Infections / complications, Escherichia coli Infections / diagnosis, Humans, Male, Middle Aged, Radiography, Abdominal, Tomography, X-Ray Computed, Urinary Tract Infections / complications, Urinary Tract Infections / diagnosis

We present a rare case of emphysematous cystitis associated with an emphysematous pyelonephritis in a diabetic Arab man who was admitted in a confusional state. A 60-year-old man was admitted to the emergency department with confusion and hypogastric mass. The Clinical examination found comatose patient with a mass in the tympanic hypogastric percussion. The pelvic computed tomography (CT) demonstrated intramural gas in the urinary tract, which suggested a diagnosis of emphysematous cystitis and emphysematous pyelitis. The treatment was based on an antibiotics associated with a bladder drainage and diabetes stabilization. The evolution was uneventful. Every diabetic patient with a urinary tract infection who seems to be severely ill should have an abdominal X-ray as a minimal screening tool to detect emphysematous complications. The rarity and the association with an emphysematous pyelitis, which is rarely reported in the literature, are two remarkable characteristics described in this case report.
Severe acute syphilitic posterior placoid chorioretinitis with complete spontaneous resolution: The natural course
Authors: Mónica Franco, Vanda Nogueira
Journal: GMS Ophthalmol Cases (2016)
Keywords: acute syphilitic posterior placoid chorioretinitis, immune response, syphilis
MeSH terms: Case Reports

Purpose:
We report on a case of unilateral acute syphilitic posterior placoid chorioretinitis (ASPPC) with spontaneous resolution of the lesions, and discuss the role of an altered versus adequate immune response as the major pathogenic factor.
Methods:
We describe a case of acute loss of visual acuity (VA) in the left eye (LE) in a 55-year-old healthy man.
Results:
The patient presented with VA of 20/20 in the right eye (RE) and hand movements in the LE. Fundoscopy revealed a large yellowish placoid macular lesion with subretinal fluid in the LE, with no abnormalities detected in the RE. Fluorescein angiography showed early hypofluorescence with late staining in the affected area. The clinical findings progressed fast during the first week, with extension of the initial lesion outside the temporal retinal vascular arcades and the appearance of new lesions in the same eye. The patient abandoned the clinic for two weeks with no treatment. When observed again, VA of the LE had recovered to 20/20 and the lesions had completely resolved. Venereal disease research laboratory (VDRL) and fluorescent treponemal antibody absorption (FTA-ABS) tests results were positive and HIV antibody test titers negative. The diagnosis of ASPPC in the left eye was made. The patient accepted treatment with penicillin G only 45 days after the initial presentation. AV remained stable at 20/20 both eyes and no relapses of the lesions were observed during this period without therapy. The patient was followed for 3 months after treatment. He remained asymptomatic and the ophthalmic examination was unremarkable.
Conclusions:
The pathogenesis of ASPPC is still not understood. Our case showed a sequential pattern of the chorioretinal lesions, with initial aggravation and complete posterior spontaneous resolution, showing the natural course of the disease. These findings suggest the presence of an adequate ocular immune response in patients with ASPPC, not supporting the initially proposed hypothesis of the importance of a modified immune response as the major pathogenic factor.
Evaluation of the Effect of Repeated Intravitreal Bevacizumab Injections on the Macular Microvasculature of a Diabetic Patient Using Optical Coherence Tomography Angiography
Authors: Ayman G Elnahry, Ahmed A Abdel-Kader, Karim A Raafat, Khaled Elrakhawy
Journal: Case Rep Ophthalmol Med (2019)
MeSH terms: Case Reports

A 53-year-old female patient with center-involving diabetic macular edema affecting the left eye was imaged using optical coherence tomography angiography (OCTA) in both eyes. She underwent three monthly intravitreal bevacizumab injections in the left eye only and OCTA was repeated in both eyes one month following the last injection and showed decreased vascular density (VD) in the treated left eye but not in the untreated right eye compared to baseline. No further injections were required in either eye, and OCTA was done in both eyes 4 months following the last injection which showed improved VD of the left eye with stable VD in the right. Three monthly intravitreal bevacizumab injections were then required in both eyes; then OCTA was repeated following the last injection and revealed decreased VD in both eyes compared to previous scan. OCTA could be a useful tool for detecting VD changes following bevacizumab injections in diabetics.
Two Cases of Ectopic Hamartomatous Thymoma Masquerading as Sarcoma
Authors: Takahito Kondo, Yukiko Sato, Hiroko Tanaka, Toru Sasaki, Kazuyoshi Kawabata, Hiroki Mitani, Hiroyuki Yonekawa, Hirofumi Fukushima, Wataru Shimbashi
Journal: Case Rep Otolaryngol (2017)
MeSH terms: Case Reports

Ectopic hamartomatous thymoma (EHT) is an extremely rare benign tumor. EHTs are difficult to differentiate from sarcomas, especially synovial sarcomas. We encountered two cases of EHT that were referred from other hospitals because sarcoma was suspected. In these cases, fusion gene detection via polymerase chain reaction or fluorescence in situ hybridization was useful for differentiating EHT from synovial sarcoma. EHT requires accurate diagnosis before surgery to avoid excessive treatment. Both tumor location and the presence of fat inside the tumor are important imaging findings for EHT, and confirmation of spindle cells, epithelial cells, and mature adipose cells in the tumor is an important pathological finding. It is important to exclude synovial sarcoma from the differential diagnosis via fusion gene analysis.
Case report: Anti-CNTN1 antibody-associated nodopathies disease with asymmetric onset
Authors: Qian Li, Qing Chen, Ting Zhang, Ying Xu, Yanmin Kan, Jing Zhang
Journal: Front Neurol (2023)
Keywords: ranvier's, autoimmune nodopathies, contactin-1, paranodal, peripheral neuropathy
MeSH terms: Case Reports

Anti-contactin-1 (CNTN1) IgG4 antibody-associated nodopathies is an autoimmune antibody-mediated peripheral neuropathy with a unique clinical presentation, pathophysiology, electrophysiology, and therapeutic response. The critical histopathological features are a dense lymphoplasmacytic infiltrate, a storiform pattern of fibrosis, and obliterative phlebitis. Here, a 62-year-old male patient presented with subacute unilateral limb onset, progressive exacerbation, marked weakness of the extremities, cranial, and autonomic nerve involvement. Neurophysiology showed slowed motor nerve conduction velocity (MCV), prolonged distal motor delay (DML), slowed sensory nerve conduction velocity (SCV), decreased sensory nerve activity potential (SNAP) amplitude, decreased amplitude of bilateral neuromotor conduction, abnormal cutaneous sympathetic response (SSR) in both lower extremities, axonal damage, prolonged F-wave latency, and discrete waves. In the initial phase, there was a response to intravenous immunoglobulin (IVIG), and corticosteroids and rituximab were also effective. After 1 year follow-up, the patient improved significantly. This article reports on a patient with nodular disease with anti-contactin-1 (CNTN1) IgG4 antibodies and reviews the literature to improve clinicians' understanding of the disease.
Bilateral Diffuse Uveal Melanocytic Proliferation Secondary to Rectal Adenocarcinoma: A Case Report and Literature Review
Authors: Nianting Tong, Liangyu Wang, Nan Wang, Zhanyu Zhou
Journal: Front Med (Lausanne) (2021)
Keywords: bilateral diffuse uveal melanocytic proliferation, case report, exudative retinal detach, paraneoplastic syndrome, rectal adenocarcinoma
MeSH terms: Review

Background: Bilateral diffuse uveal melanocytic proliferation (BDUMP) is a rare paraneoplastic intraocular syndrome that causes progressive visual loss in patients, and is associated with an underlying malignancy. Recently, the incidence of BDUMP has increased with the prolonged life expectancy of oncology patients. Case Presentation: We report a case of a 68-year-old man with significant visual loss in both eyes. The patient presented with a diffusely thickened choroid and ciliary body, extremely shallow anterior chamber, increased intraocular pressure, and cataract formation, accompanied by exudative retinal detachment in both eyes. He underwent a pars plana vitrectomy and choroidal biopsy, which revealed benign proliferation of melanocytes. A small amount of subretinal fluid persisted, and uveal thickness persisted in the early postoperative period. During the 1-year follow-up assessment, he underwent rectal tumor resection, and was pathologically diagnosed with rectal adenocarcinoma. Six months after the rectal tumor resection, the subretinal fluid was completely absorbed and the retina had reattached. The thickness of both the ciliary body and choroid had significantly decreased. Conclusion: This case report describes a rare paraneoplastic intraocular syndrome, BDUMP, which was associated with rectal adenocarcinoma. Treatment for the primary malignancy gradually improved the visual symptoms and signs.