OpenMed/multicare-articles huggingface dataset:
Adjuvant corticosteroid therapy in hepatosplenic candidiasis-related iris
Authors: Cengiz Bayram, Ali Fettah, Nese Yarali, Abdurrahman Kara, Fatih Mehmet Azik, Betul Tavil, Bahattin Tunc
Journal: Mediterr J Hematol Infect Dis (2012)
MeSH terms: Case Reports

Candida infections are the most frequent infections in neutropenic patients. Hepatosplenic candidiasis (HSC) is a part of disseminated Candida infection that occurs most commonly in patients with hematologic malignancies treated with chemotherapy and requires protracted antifungal therapy. During invasive mycosis with rapid resolution of immunosuppression, immune reconstitution inflammatory syndrome (IRIS) which mimics treatment failure, drug toxicity or breakthrough infections may occur. Manifestation period, histopathologic findings and favorable effect of steroids to its inflammatory symptoms strongly suggest that HSC belongs to the invasive fungal infection induced IRIS. We present a child with B cell-acute lymphoblastic leukemia who developed HSC and addition of corticosteroid therapy to antifungal treatment achieved rapid resolution of the clinical symptoms and laboratory findings.
Case Report of an Acute Complex Perilunate Fracture Dislocation Treated with a Three-Corner Fusion
Authors: Graeme Matthewson, Samuel Larrivee, Tod Clark
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

Perilunate fracture dislocations are a rare but devastating injury, which is often missed on initial presentation leading to significant delays in treatment. With the delay in treatment and a high energy mechanism of injury, patients are at increased risk of developing complex regional pain syndrome following trauma. In this report, we review the case of a 57-year-old left-hand dominant female who presented to a clinic with a five-and-a-half-week-old transtriquetral, perilunate fracture dislocation with comminution of the scaphoid facet. Due to the increased likelihood of a secondary procedure and low probability of a satisfactory outcome with open reduction internal fixation secondary to the loss of the scaphoid articulation, a salvage procedure was deemed her best option. To our knowledge, this is the first case reported in the literature in which a scaphoidectomy, triquetromy, and midcarpal fusion (three-corner fusion) was performed in the acute setting for a perilunate fracture dislocation.
A Novel Variant in ABCD1 Gene Presenting as Adolescent-Onset Atypical Adrenomyeloneuropathy With Spastic Ataxia
Authors: Yanxing Chen, Jianfang Zhang, Jianwen Wang, Kang Wang
Journal: Front Neurol (2018)
Keywords: x-linked adrenoleukodystrophy, adrenomyeloneuropathy, atypical, de novo, spastic ataxia
MeSH terms: Case Reports

X-linked adrenoleukodystrophy (X-ALD) is a rare neurological disorder with a highly complex clinical presentation. Adrenal function, spinal cord, peripheral nerves, and cerebral white matter are commonly affected in adult-onset male patients. Here, we report a family with unusual presentation of X-ALD. The 19-year-old proband had presented with atypical symptoms of adrenomyeloneuropathy (AMN) for 3 years, only with spastic paraparesis, cerebellar ataxia, and cerebellar atrophy with white matter hyperintensity. It is rare for an AMN male patient to present the initial symptoms at such an early age with the adrenal function, sphincter function, and dorsal column of the spinal cord spared. He is also the youngest male AMN patient reported to have cerebellar ataxia. His mother also presented unusually early onset of the similar manifestations. A novel variant c.1144A>C (p.Thr382Pro) in exon 3 of the ABCD1 gene was identified. Family study involving the grandparents of the proband revealed the de novo occurrence of the variant in the mother.
Invasive disease caused by nontuberculous mycobacteria, Tanzania
Authors: John A Crump, Jakko van Ingen, Anne B Morrissey, Martin J Boeree, Daudi R Mavura, Britta Swai, Nathan M Thielman, John A Bartlett, Henning Grossman, Venance P Maro, Dick van Soolingen
Journal: Emerg Infect Dis (2009)
MeSH terms: Mycobacterium Infections / epidemiology, Mycobacterium Infections / microbiology, Mycobacterium avium Complex / classification, Mycobacterium avium Complex / genetics, Mycobacterium avium Complex / isolation & purification, Mycobacterium avium-intracellulare Infection / epidemiology, Mycobacterium avium-intracellulare Infection / microbiology, Mycobacterium / classification, Mycobacterium / genetics, Mycobacterium / isolation & purification, Case Reports, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, AIDS-Related Opportunistic Infections / epidemiology, AIDS-Related Opportunistic Infections / microbiology, Adult, Bacterial Proteins / genetics, Chaperonin 60, Chaperonins / genetics, DNA, Bacterial / analysis, DNA, Ribosomal / analysis, DNA, Ribosomal Spacer / analysis, Female, HIV Infections / complications, HIV Infections / epidemiology, Humans, Male, Middle Aged, Molecular Sequence Data, RNA, Ribosomal, 16S, Sequence Analysis, DNA, Tanzania / epidemiology, Bacterial Proteins, Chaperonin 60, DNA, Bacterial, DNA, Ribosomal, DNA, Ribosomal Spacer, RNA, Ribosomal, 16S, heat-shock protein 65, Mycobacterium, Chaperonins

Data on nontuberculous mycobacterial (NTM) disease in sub-Saharan Africa are limited. During 2006-2008, we identified 3 HIV-infected patients in northern Tanzania who had invasive NTM; 2 were infected with "Mycobacterium sherrisii" and 1 with M. avium complex sequevar MAC-D. Invasive NTM disease is present in HIV-infected patients in sub-Saharan Africa.
Novel GTF2I- PDGFRB and IKZF1- TYW1 fusions in pediatric leukemia with normal karyotype
Authors: Ioannis Panagopoulos, Marta Brunetti, Margrethe Stoltenberg, Rønnaug A U Strandabø, Julie Staurseth, Kristin Andersen, Ilyá Kostolomov, Tarjei S Hveem, Susanne Lorenz, Tove Anita Nystad, Trond Flægstad, Francesca Micci, Sverre Heim
Journal: Exp Hematol Oncol (2019)
Keywords: array comparative genomic hybridization, fluorescence in situ hybridization, fusion genes, gtf2i–pdgfrb, ikzf1–tyw1, normal karyotype, pediatric acute lymphoblastic leukemia, rna sequencing, submicroscopic deletions
MeSH terms: Case Reports

Background:
Many cases of acute lymphoblastic leukemia (ALL) carry visible acquired chromosomal changes of pathogenetic, diagnostic, and prognostic importance. Nevertheless, from one-fourth to half of newly diagnosed ALL patients have no visible chromosomal changes detectable by G-banding analysis at diagnosis. The introduction of powerful molecular methodologies has shown that many karyotypically normal ALLs carry clinically important submicroscopic aberrations.
Case presentation:
We used fluorescence in situ hybridization (FISH), array comparative genomic hybridization (aCGH), RNA sequencing, reverse transcription (RT) and genomic polymerase chain reaction (PCR), as well as Sanger sequencing to investigate a case of pediatric ALL with a normal karyotype. FISH with a commercial PDGFRB breakapart probe showed loss of the distal part of the probe suggesting a breakpoint within the PDGFRB locus. aCGH revealed submicroscopic deletions in chromosome bands 5q32q35.3 (about 30 Mb long, starting within PDGFRB and finishing in the CANX locus), 7q34 (within TCRB), 9p13 (PAX5), 10q26.13 (DMBT1), 14q11.2 (TRAC), and 14q32.33 (within the IGH locus). RNA sequencing detected an in-frame GTF2I-PDGFRB and an out-of-frame IKZF1-TYW1 fusion transcript. Both fusion transcripts were verified by RT-PCR together with Sanger sequencing and interphase FISH. The GTF2I-PDGFRB fusion was also verified by genomic PCR and FISH. The corresponding GTF2I-PDGFRB fusion protein would consist of almost the entire GTF2I and that part of PDGFRB which harbors the catalytic domain of the tyrosine kinase. It would therefore seem to lead to abnormal tyrosine kinase activity in a manner similar to what has been seen for other PDGFRB fusion proteins.
Conclusions:
The examined pediatric leukemia is a Ph-like ALL which carries novel GTF2I-PDGFRB and IKZF1-TYW1 fusion genes together with additional submicroscopic deletions. Because hematologic neoplasms with PDGFRB-fusion genes can be treated with tyrosine kinase inhibitors, the detection of such novel fusions may be clinically important. Since the GTF2I-PDGFRB could be detected only after molecular studies of the leukemic cells, further investigations of ALL-cases, perhaps especially but not exclusively with a normal karyotype, are needed in order to determine the frequency of GTF2I-PDGFRB in leukemia, and also to find out which clinical impact the fusion may have.
Progressive Ureteropelvic Junction Obstruction and Renal Function Deterioration in Adult, Even in a Short Period of Time
Authors: Abbas Basiri, Behzad Narouie, Saeed Reza Ghanbarizadeh, Hamidreza Rouientan, Mohadese Ahmadzade
Journal: Case Rep Urol (2023)
MeSH terms: Case Reports

Introduction:
The ureteropelvic junction obstruction is more common in children; however, it can also affect adults. The management of this condition has shifted toward a nonoperative approach with serial ultrasonography and renography. Case Presentation. The ureteropelvic junction obstruction imaging with significant renal function deterioration in an adult patient is described in this report. Laparoscopic exploration revealed aberrant vessels that compress the ureteropelvic junction against the lower pole of the kidney.
Conclusion:
It is important to consider that some of the ureteropelvic junction obstruction cases can get worse even in a short period of time.
Duane retraction syndrome in a Nigerian child
Authors: Olusola Oluyinka Olawoye, Bolutife Ayokunnu Olusanya, Aderonke Mojisola Baiyeroju
Journal: Pan Afr Med J (2014)
Keywords: duane syndrome, west africa, child, eye movement, squint
MeSH terms: Duane Retraction Syndrome / diagnosis, Exotropia / etiology, Case Reports, Child, Preschool, Duane Retraction Syndrome / physiopathology, Female, Humans

We report a case of a four year old Nigerian girl who presented to the paediatric unit of our eye clinic with complaints of a squint on looking to the right side and reduction in the size of the right eye when looking to the left. On examination, she had right exotropia in the primary position of gaze. There was limitation of abduction and widening of the palpebral fissure of the right eye on right gaze. On left gaze there was narrowing of the palpebral fissure of the right eye with marked limitation of adduction and an upshoot, or occasionally a downshoot, of the eyeball. This report demonstrates that Duane's syndrome occurs in West Africa. Therefore, detailed examination of all patients with squints is important to ensure accurate diagnosis and appropriate management of the patient's condition.
Analyzing the land and labour productivity of farms producing renewable energy: the Italian case study
Authors: Antonella Basso, Maria Bruna Zolin
Journal: J Product Anal (2023)
Keywords: q01, q42, q56

The paper computes and analyses some relevant indicators of economic performance of Italian farms producing/not producing renewable energy, and compares the economic results of the two set of farms. The source of data is the European Farm Accountant Data Network; the farms belonging to this network are analysed in relation to their structural differences, type of farming, geographical areas, economic size, as well as the type of renewable energy produced. After an in-depth statistical investigation, the main economic ratios are computed and analysed using also multivariate regression models, with a special focus on the production of solar and biogas energy. In terms of land and labour productivity and fixed factor remuneration, the results show that farms producing renewable energy perform better than the other farms. This positive effect is particularly accentuated in large companies that produce biogas, followed by farms that produce solar energy. There are still many obstacles that limit the production of renewable energy in agriculture; among these, still insufficient research and information on best practices in agriculture and, in Italy, the complexity and dispersion of the institutional legislative framework and of the public support systems. However, the need to increase the production of renewable energy has become a priority for many European countries both in the short- and in the medium term, especially in light of recent events related to the war in Ukraine.
Yoga as an Adjunct for Management of Opioid Dependence Syndrome: A Nine-Month Follow-Up Case Report
Authors: Prateek Varshney, Hemant Bhargav, Pilli Devi Vidyasagar, Sumana Venugopal, Rashmi Arsappa, Venkata Lakshmi Narasimha, Priyamvada Sharma, Vijayashree Rao, Pratima Murthy
Journal: Case Rep Psychiatry (2021)
MeSH terms: Case Reports

Opioid dependence syndrome (ODS) is a chronic relapsing remitting condition associated with significant impairment and mortality risk. Opioid substitution therapy is used worldwide, but long-term retention rates are low and there is risk of misuse and diversion. Yoga practice can improve quality of life, reduce chronic pain, and enhance endogenous opioids (beta-endorphins). We describe a case of ODS where yoga was added to the conventional management and who was followed up for 9 months. Assessments were done for clinical symptoms, urine drug screening, plasma beta-endorphins, and Buprenorphine dosage. We observed an improvement in his clinical symptoms and reduction in the requirements for Buprenorphine. A slight increase in basal plasma beta-endorphin levels was also observed at the 9-month follow-up (from 2.02 pmol/L at baseline to 6.51 pmol/L).
Mitochondrial DNA as a Biomarker for Acute Central Serous Chorioretinopathy: A Case-Control Study
Authors: Noriyasu Hashida, Kazunobu Asao, Chikako Hara, Andrew J Quantock, Ryotaro Saita, Hiroyuki Kurakami, Kazuichi Maruyama, Kohji Nishida
Journal: Front Med (Lausanne) (2022)
Keywords: 8-ohdg, biomarker, central serous chorioretinopathy (cscr), high mobility group box 1 (hmgb1), mitochondrial dna, stress

Background:
The literature suggests that stress may play a pivotal role in the precipitation of acute central serous chorioretinopathy (CSC) because chorioretinal integrity can be affected by the psychosocial state of the patient, indicating the need for a biomarker. Not only physical stress but also psychological stress causes many types of physical disorders. However, little is known about the pathophysiology of stress-induced disease. The objective of this study was to investigate whether serum factors might be involved in the development of stress-induced ocular diseases.
Methods:
This observational case series included 33 eyes of 33 consecutive patients with treatment-naïve acute CSC. Fifty eyes of 50 age-matched healthy volunteers were included in this study as non-CSC controls. Serum samples were collected from all participants, and the levels of mitochondrial DNA (mtDNA) were measured by quantitative real-time (RT)-PCR. Serum levels of high-mobility group box (HMGB) 1 and 8-hydroxy-2'-deoxyguanosine (8-OHdG), biological markers of acute/chronic inflammation and oxidative stress, were also measured. The relationships between serum mtDNA, 8-OHdG, and HMGB1 concentrations were investigated by multivariate regression analysis, alongside an assessment of clinical data.
Results:
In the treatment-naïve acute CSC group, the serum mtDNA levels (36.5 ± 32.4 ng/mL) were significantly higher than the levels in the control group (7.4 ± 5.9 ng/mL; p < 0.001). Serum levels of 8-OHdG and HMGB1 in treatment-naïve acute CSC patients measured 0.12 ± 0.08 ng/mL and 18.1 ± 35.0 ng/mL, respectively, indicating that HMGB1 levels were elevated in CSC compared with the control group. Multivariable regression analysis demonstrated that increased serum mtDNA levels were significantly associated with the height of serous retinal detachment.
Conclusion:
We showed serum mtDNA and HMGB1 level elevation and its relation to the clinical activities of CSC, indicating that serum mtDNA and HMGB1 could serve as biomarkers for the acute phase of the disease. The use of these biomarkers makes it possible to predict disease onset and determine disease severity.
Frontotemporal Dementias in Latin America: History, Epidemiology, Genetics, and Clinical Research
Authors: Jorge J Llibre-Guerra, Maria Isabel Behrens, Mirna Lie Hosogi, Lucia Montero, Teresa Torralva, Nilton Custodio, Erika Mariana Longoria-Ibarrola, Margarita Giraldo-Chica, David Aguillón, Angela Hardi, Gladys E Maestre, Valeria Contreras, Celeste Doldan, Lissette Duque-Peñailillo, Heike Hesse, Norbel Roman, Dhara Angelina Santana-Trinidad, Christian Schenk, Ninoska Ocampo-Barba, Ricardo López-Contreras, Ricardo Nitrini
Journal: Front Neurol (2021)
Keywords: latin america, biomarkers, frontotemporal dementia, genetics, history, prevalence
MeSH terms: Systematic Review

Introduction: The historical development, frequency, and impact of frontotemporal dementia (FTD) are less clear in Latin America than in high-income countries. Although there is a growing number of dementia studies in Latin America, little is known collectively about FTD prevalence studies by country, clinical heterogeneity, risk factors, and genetics in Latin American countries. Methods: A systematic review was completed, aimed at identifying the frequency, clinical heterogeneity, and genetics studies of FTD in Latin American populations. The search strategies used a combination of standardized terms for FTD and related disorders. In addition, at least one author per Latin American country summarized the available literature. Collaborative or regional studies were reviewed during consensus meetings. Results: The first FTD reports published in Latin America were mostly case reports. The last two decades marked a substantial increase in the number of FTD research in Latin American countries. Brazil (165), Argentina (84), Colombia (26), and Chile (23) are the countries with the larger numbers of FTD published studies. Most of the research has focused on clinical and neuropsychological features (n = 247), including the local adaptation of neuropsychological and behavioral assessment batteries. However, there are little to no large studies on prevalence (n = 4), biomarkers (n = 9), or neuropathology (n = 3) of FTD. Conclusions: Future FTD studies will be required in Latin America, albeit with a greater emphasis on clinical diagnosis, genetics, biomarkers, and neuropathological studies. Regional and country-level efforts should seek better estimations of the prevalence, incidence, and economic impact of FTD syndromes.
Previable Preeclampsia Diagnosed by Renal Biopsy in Setting of Novel Diagnosis of C4 Glomerulopathy
Authors: Jessica Parrott, Timothy A Fields, Marc Parrish
Journal: Case Rep Obstet Gynecol (2017)
MeSH terms: Case Reports

Background:
Preeclampsia diagnosed before 20 weeks' gestational age is a rare entity, particularly without any predisposing factors. We report a case of preeclampsia occurring prior to 20 weeks' gestational age in the setting of a novel diagnosis of C4 glomerulopathy.
Case:
A G3P0020 at 18 weeks presented with new onset hypertension and proteinuria, requiring multiple antihypertensive agents to maintain control. Renal biopsy demonstrated thrombotic microangiopathic lesions and glomerular endotheliosis. C4-dominant staining and numerous subendothelial and mesangial electron dense deposits were found within the glomerulus. With no other definable etiologies, preeclampsia was diagnosed. She developed posterior reversible encephalopathic syndrome and pregnancy termination was recommended.
Conclusion:
The lectin complement pathway may play a role in the pathophysiology of severe, early onset preeclampsia. Renal biopsy may play an integral role in diagnosis.
Successful treatment of chronic mucocutaneous candidiasis caused by azole-resistant Candida albicans with posaconazole
Authors: Davide Firinu, Orietta Massidda, Maria Maddalena Lorrai, Loredana Serusi, Monica Peralta, Maria Pina Barca, Paolo Serra, Paolo Emilio Manconi
Journal: Clin Dev Immunol (2011)
MeSH terms: Candidiasis, Chronic Mucocutaneous / drug therapy, Candidiasis, Chronic Mucocutaneous / immunology, Triazoles / administration & dosage, Triazoles / therapeutic use, Case Reports, Administration, Oral, Adult, Antifungal Agents / therapeutic use, Candida albicans / pathogenicity, Drug Resistance, Fungal, Female, Humans, Treatment Outcome, Antifungal Agents, Triazoles, posaconazole

Refractory or recurrent infections of skin, nails, and the mucous membranes are clinical signs of chronic mucocutaneous candidiasis, frequently associated with immunological defects. Here we describe a 39-years-old female patient, with familial CMC, that presented with an extensive infection caused by an azole-resistant Candida albicans isolate, successfully treated with posaconazole.
Apatite calcific periarthritis of the radial collateral ligament of the thumb: a case report and review of the literature
Authors: Wassim Zribi, Mohamed Mokhtar Jmal, Ameur Abid, Mohamed Ben Jemaa, Nabil Krid, Mohamed Zribi, Hassib Keskes
Journal: Case Reports Plast Surg Hand Surg (2019)
Keywords: apatite, hand, metacarpophalangeal thumb, ultrasound
MeSH terms: Case Reports

Calcification of the lateral collateral ligament of the metacarpophalangeal thumb is a rare pathology. It's may be due to a deposit of hydroxyapatite crystals. We report the case of a 36-year-old man with chronic pain of MCPP. X-ray and Ultrasound finds a calcium deposit of LCL.
Isolated bilateral ptosis as an early sign of guillain-barré syndrome
Authors: Yahia Z Imam, Dirk Deleu
Journal: Case Rep Neurol Med (2013)

Background. Guillain-Barré syndrome (GBS) has many variants with distinct presentations. Ptosis as an initial presentation is rare. Case Report. We describe a young female with bilateral ptosis without ophthalmoplegia as the initial presentation of Guillain-Barré ptosis in an anti-GQ1b IgG antibody negative patient with a favorable outcome to intravenous immunoglobulins. Objectives. Our paper highlights the importance of recognizing GBS as a potential etiology in a patient presenting with isolated ptosis, particularly since the course of GBS can be more dramatic than in the anti-GBQ1b syndromes such as ophthalmoparesis without ataxia and Miller Fisher syndrome or ocular myasthenia. Conclusion. This is the first paper of anti-GBQ1b antibody negative GBS presenting with isolated ptosis without ophthalmoparesis. GBS should be included in the list of differential diagnosis of such presentations.
A Case of Subacute Thyroiditis following COVID-19 Infection
Authors: Sameh Samir Elawady, Diwakar Phuyal, Rakesh Kumar Shah, Lubna Mirza
Journal: Case Rep Endocrinol (2022)
MeSH terms: Case Reports

Background/Objective. Since the start of the pandemic, COVID-19 has been associated with several postinfection complications. Subacute thyroiditis (SAT) is an inflammatory disorder of the thyroid that has been reported in the literature following COVID-19 infection. We report a case of SAT following COVID-19 infection. Case Report. A 33-year-old female presented with neck pain two weeks after resolution of COVID-19 infection. Her thyroid function tests together with ultrasonographic pictures were consistent with SAT. She was treated with three rounds of medrol dose pack without relief. She then required oral prednisone 40 mg per day and ibuprofen 800 mg once daily for another several weeks that eventually resulted in improvement of her symptoms. Discussion. SAT most commonly occurs in females during or after viral infection. The usual course of the disease is hyperthyroidism then hypothyroidism followed by resolution. SAT is clinically diagnosed by lab findings of decreased TSH in the setting of negative thyroid-stimulating and thyroid peroxidase antibodies. All these data are consistent with our case. Conclusion. SAT following COVID-19 infection presents with a similar clinical presentation and course as the classic form of SAT, but we should consider the fact that a high-dose corticosteroid treatment might be necessary for such patients.