OpenMed/multicare-articles huggingface dataset:
Case report: Novel ETFDH compound heterozygous mutations identified in a patient with late-onset glutaric aciduria type II
Authors: Sijia Zhu, Dongxue Ding, Jianhua Jiang, Meirong Liu, Liqiang Yu, Qi Fang
Journal: Front Neurol (2023)
Keywords: acmg, etfdh, compound heterozygous mutations, functional analysis, glutaric aciduria type ii, riboflavin supplement
MeSH terms: Case Reports

Glutaric aciduria type II (GA II) is an autosomal recessive metabolic disorder of fatty acid, amino acid, and choline metabolism. The late-onset form of this disorder is caused by a defect in the mitochondrial electron transfer flavoprotein dehydrogenase or the electron transfer flavoprotein dehydrogenase (ETFDH) gene. Thus far, the high clinical heterogeneity of late-onset GA II has brought a great challenge for its diagnosis. In this study, we reported a 21-year-old Chinese man with muscle weakness, vomiting, and severe pain. Muscle biopsy revealed myopathological patterns of lipid storage myopathy, and urine organic acid analyses showed a slight increase in glycolic acid. All the aforementioned results were consistent with GA II. Whole-exome sequencing (WES), followed by bioinformatics and structural analyses, revealed two compound heterozygous missense mutations: c.1034A > G (p.H345R) on exon 9 and c.1448C>A (p.P483Q) on exon 11, which were classified as "likely pathogenic" according to American College of Medical Genetics and Genomics (ACMG). In conclusion, this study described the phenotype and genotype of a patient with late-onset GA II. The two novel mutations in ETFDH were found in this case, which further expands the list of mutations found in patients with GA II. Because of the treatability of this disease, GA II should be considered in all patients with muscular symptoms and acute metabolism decompensation such as hypoglycemia and acidosis.
Kratom: a dangerous player in the opioid crisis
Authors: Khadija Tayabali, Colin Bolzon, Paul Foster, Janki Patel, Mohammad Omar Kalim
Journal: J Community Hosp Intern Med Perspect (2018)
Keywords: dea, fda, herb-induced liver disease, hepatotoxicity, kratom, mitragynine, opioid crisis, scheduled drugs
MeSH terms: Case Reports

Kratom use as a herbal supplement is on the rise in the United States, with reported medical outcomes and lethal effects suggesting a public health threat. Even though the Drug Enforcement Administration has included kratom on its drugs of concern list and the FDA has published a press release to identify it as an opioid with a potential for abuse, its therapeutic and side effects are still not well defined in the literature. Here, we present a case of a 32-year-old man with a history of kratom use who became acutely ill with a brief prodromal illness, followed by jaundice and elevated liver enzymes showing a cholestatic picture, and his successful treatment. In this case, we emphasize the need for awareness of kratom exposure as a key contributor in the expansion of the opioid crisis, with therapeutic benefits earned at the expense of potentially lethal side effects.
Internet gaming disorder in an adolescent during the COVID-19 pandemic: a case report
Authors: Novi Agung Rahmawati, Yunias Setiawati, Gusti Ayu Indah Ardani, Ekachaeryanti Zain, Victor Pereira-Sanchez
Journal: Pan Afr Med J (2022)
Keywords: covid-19, internet gaming disorder, adolescent, behavioral addiction, case report
MeSH terms: COVID-19, Video Games / psychology, Case Reports, Adolescent, Adult, Humans, Internet, Internet Addiction Disorder, Pandemics

The internet has become an indispensable tool in people´s daily lives during the COVID-19 pandemic. Internet and video game use are experiencing rapid growth in the youth and adult populations as a major source of entertainment. However, excessive gaming may cause addiction and negatively impact mental health, entailing low psychosocial well-being, poor social skills, and decreased academic achievement. We report the case of a 16-year-old student with a "typical" pattern of internet gaming disorder (IGD) developed during the pandemic, which improved after weeks of treatment with pharmacotherapy and psychosocial interventions. This case highlights that it is essential for the mental health professionals to know the psychopathology of IGD and multimodal approaches to treat it.
A fragment of Foley catheter balloon as a cause of Bladder stone in woman
Authors: El Majdoub Aziz, Mouad Amrani, Khallouk Abdelhak, Farih Moulay Hassan
Journal: Pan Afr Med J (2015)
Keywords: catheter balloon, foreign body, intravésical, recurrent urinary tract infections
MeSH terms: Foreign Bodies / complications, Urinary Bladder Calculi / etiology, Urinary Catheterization / adverse effects, Case Reports, Adult, Female, Humans, Urinary Bladder Calculi / pathology, Urinary Bladder Calculi / therapy, Urinary Catheterization / instrumentation

Urinary bladder calculi are rarely seen in women and any history of previous pelvic surgery must, therefore, raise suspicion of an iatrogenic etiology. According to the literature, fewer than 2% of all bladder calculi occur in female subjects and, thus, their presence should provoke careful assessment of the etiology. We report one case of a fragment of Foley catheter balloon as a cause of Bladder stone in 28 years old woman. We analyzed the diagnosis, aspect and therapeutic management of this case which is the first described in literature to our knowledge.
Ovarian adenocarcinoma metastasis mimicking psoas abscess on imaging: a case report
Authors: Youssef Kharbach, Siham Rachidi Alaoui, Abdelhak Khallouk
Journal: Pan Afr Med J (2020)
Keywords: malignant psoas syndrome, metastasis, ovarian adenocarcinoma, psoas abscess
MeSH terms: Adenocarcinoma / pathology, Ovarian Neoplasms / pathology, Psoas Abscess / diagnosis, Case Reports, Adenocarcinoma / therapy, Biopsy, Fine-Needle, Female, Humans, Hysterectomy, Middle Aged, Neoadjuvant Therapy, Ovarian Neoplasms / therapy, Ovariectomy, Psoas Abscess / pathology, Tomography, X-Ray Computed

Malignant psoas syndrome (MPS) is very rare with poor prognosis, and usually occurs in patients with advanced and recurrent cancer. Authors report herein the case of a 48-year-old female with history of neoadjuvant chemotherapy has been performed before hysterectomy with bilateral adnexectomy and ovariectomy for ovarian adenocarcinoma. She presented 18 months posttreatment with MPS due to a psoas abscess mimicking metastasis confirmed on computed tomography guided fine needle aspiration cytology.
Xanthoma disseminatum in a pair of blind, deaf male twins
Authors: Naveed Natanzi, David Peng, Eli Ahdoot, Sandra Ghatan, Amy Reinstandler, Ramin Ram
Journal: ISRN Dermatol (2011)
MeSH terms: Case Reports

Xanthoma disseminatum (XD) is a rare normolipemic histiocytic disorder of non-Langerhans cell origin characterized by erythematous to tan/brown papules in flexor surfaces. Considered a generally benign, chronic disease of unknown etiology, XD typically affects the skin, mucous membranes, and less commonly, other organs. To date, there has been no typical or consistent inheritance pattern described, nor has it ever been considered as a component of any known syndrome. We describe, for the first time, two cases of XD in a pair of blind and deaf twin brothers.
Inability to ventilate after tube exchange postoperative to pneumonectomy
Authors: S E Verstraeten, A H M van Straten, H H M Korsten, E W G Weber, P L M L Wielders, E Berreklouw
Journal: Case Rep Anesthesiol (2012)
MeSH terms: Case Reports

We report a case of inability to ventilate a patient after completion of pneumonectomy, due to migrated tumor tissue to the contralateral side. This represents an unusual complication with a high mortality rate. We have managed to find the cause in time and were able to remove the obstructive tissue using bronchoscopy.
Anesthetic Challenges During Whole Lung Lavage: A Case Report
Authors: Prasanta K Das, Krishna Prasanth Yadavilli, Aswathy Girija, Subho Sarkar, Afshan Shaik, Manoj K Panigrahi
Journal: Cureus (2023)
Keywords: anesthetic management, dlt, one lung ventilation, pulmonary alveolar proteinosis, whole lung lavage
MeSH terms: Case Reports

Pulmonary alveolar proteinosis is an uncommon lung disease characterized by the accumulation of surfactant in the lungs. Treatment is done by whole lung lavage. One-lung ventilation in diseased lungs is a challenge to anesthesiologists due to the rapid desaturation and hemodynamic fluctuations encountered during the procedure. A 24-year-old female, a known patient of pulmonary alveolar proteinosis, who had undergone previous lung lavage presented with a dry cough and shortness of breath. Our management of the case included complete lung isolation with a double-lumen tube (DLT), one-lung ventilation, and an appropriate hemodynamic management strategy during the procedure.
Multimodal Imaging and Macular Hyalocyte Count in a Patient with Acute Macular Neuroretinopathy
Authors: Michael J Schatz, Oscar Otero-Marquez, Richard B Rosen, Deep Parikh
Journal: Case Rep Ophthalmol Med (2022)
MeSH terms: Case Reports

Though rare, acute macular neuroretinopathy is a well-described clinical entity. We report for the first time a detailed analysis of macular hyalocyte count and morphology during the acute phase of acute macular neuroretinopathy. We present a case of a 19-year-old man with bilateral acute onset paracentral scotomas in the setting of an antecedent viral infection. Multimodal imaging demonstrated classic features of acute macular neuroretinopathy. Further analysis revealed increased macular hyalocyte count and an activated hyalocyte morphology during the acute phase of the disease course. Multimodal imaging not only allows for greater confidence in a diagnosis and prognosis but also helps to shed light on underlying pathophysiology. The new clinical capability of monitoring cellular behavior, such as hyalocyte count and morphology, in physiological and pathological conditions may prove useful as biomarkers of early disease activity or response to therapy.
Case Report: Congenital disseminated tuberculosis neonate born to tuberculosis- COVID-19 mother
Authors: Nelly Amalia Risan, Rilda Dwi Febrianda, Heda Melinda Nataprawira
Journal: Front Pediatr (2022)
Keywords: covid-19, congenital, disseminated, meningitis, tuberculosis
MeSH terms: Case Reports

We report a case of a 26-day-old male neonate with high suggestive of congenital disseminated tuberculosis (TB) [tuberculous meningitis (TBM), pulmonary TB, and ocular TB] at term, low birth weight born cesarean section from a confirmed COVID-19 and pulmonary TB mother who hospitalized in the isolation room and never seen her son for three weeks. The baby had a fever for two weeks after birth and a history of seizures. A nasopharyngeal swab for RT-PCR SARS-CoV-2 yielded a negative result. He was initially diagnosed as having a sepsis-like syndrome and then hospitalized. Chest x-ray revealed bilateral infiltrate, cerebrospinal fluid analysis (CSF) showed clear, cell count was 9 with dominant mononuclear cell, and gastric lavages did not yield acid-fast bacilli. X-pert MTB/RIF from gastric lavage specimen detected Mycobacterium tuberculosis rifampicin sensitive. Anti-tuberculosis drugs for TBM were started. Abdominal sonography identified multiple hypoechoic nodules in the liver and spleen. Neuroimaging studies did not identify hydrocephalus, meningeal enhancement, infarct, or tuberculoma. A Video-EEG examination showed electrical seizure after initiation of phenobarbital. Video-EEG evaluation showed no epileptiform discharge. Upon follow-up, he showed slightly delayed motor development, pan-uveitis, retinal detachment, and cataracts. We assumed that ocular TB resulted from a paradoxical reaction following TB treatment. Retinal detachment was improved and lens replacement was done.
Angioimmunoblastic T-Cell Lymphoma: A Questionable Association with Follicular Dendritic Cell Sarcoma
Authors: Daniel Benharroch, Miriam Zekzer, Karen Nalbandyan
Journal: Case Rep Hematol (2017)
MeSH terms: Case Reports

An elderly woman presented with generalized lymphadenopathy, several systemic symptoms, and splenomegaly. An inguinal lymph node excision revealed a compound picture. One aspect of the lymph node morphology, including cells with follicular T-helper cell phenotype, was most consistent with angioimmunoblastic T-cell lymphoma. The other component, revealing spindle cells forming whorls with immunostaining for CD21, CD23, and fascin, might be an integral part of this T-cell lymphoma. However, due to the often massive involvement of the nodal tissue by these follicular dendritic cells, these areas were questionably suggestive of involvement by follicular dendritic cell sarcoma. We raise herein the issue of the borderline area between advanced follicular dendritic cell expansion in angioimmunoblastic T-cell lymphoma and a massive follicular dendritic cell proliferation consistent with follicular dendritic cells sarcoma, in the absence of a genomic analysis.
Children Infected With SARS-CoV-2 From Family Clusters
Authors: Dan Sun, Feng Zhu, Cheng Wang, Jing Wu, Jie Liu, Xue Chen, Zhisheng Liu, Zubo Wu, Xiaoxia Lu, Jiehui Ma, Hua Peng, Han Xiao
Journal: Front Pediatr (2020)
Keywords: covid-19, sars-cov-2, children, family clusters, viral pneumonia

Background: The outbreak of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is ongoing globally. Limited data are available for children with SARS-CoV-2 infection. Methods: A retrospective case study was conducted in one designated hospital for children with SARS-CoV-2 infection in Wuhan. Results: Out of the 74 children with laboratory-confirmed SARS-CoV-2 infection, the median age was 5.8 years, with no notable variation based on gender. All of the children had had direct exposure to at least one family member with confirmed SARS-CoV-2 infection. The most common symptoms were cough in 41 (55.4%) and fever in 38 (51.4%). Typical CT patterns of viral pneumonia were exhibited in 40 (54.1%) children, including ground-glass opacity and interstitial abnormalities. However, 17 (23.0%) children were classified as asymptomatic carriers, with neither symptoms nor radiological findings. Also, 68 (91.9%) children recovered fully and showed negative results on RT-PCR assay by nasopharyngeal swabs during our observation period. In contrast to the negative result for nasopharyngeal swab, 34% of the anal swabs showed a continued positive result. The mean hospitalization days of the children discharged after full recovery was 10.0 days. Conclusion: Within family clusters that had SARS-CoV-2 infection, children had mild or even asymptomatic illness. Although CT is highly sensitive, it should be avoided in follow-up of the disease in consideration of the radiological hazards and limited clinical benefits for mild illness in children. Furthermore, it is advocated that both nasopharyngeal and anal swabs should be confirmed negative for viral load prior to declaring full recovery so as to avoid oral-fecal transmission. Asymptomatic children with family clusters are potentially a little-known source of COVID-19. This therefore warrants an urgent reassessment of the transmission dynamics of the current outbreak.
Cystoid macular edema in acute presentation of central retinal artery occlusion
Authors: Wei Yan Ng, Doric W K Wong, Ian Y S Yeo, Daphne C Y Han
Journal: Case Rep Ophthalmol Med (2012)
MeSH terms: Case Reports

A seventy-six-year-old lady with poor vision of the left eye due to previous retinal detachment presented with acute visual loss of her right eye secondary to central retinal artery occlusion. Clinical examination showed a pale right optic disc, macular edema, and a cherry red spot. Optical coherence tomography done four hours after onset showed right acute cystoid macular edema and diffuse inner retinal thickening. Subsequent treatment with intravenous carbonic anhydrase inhibitor resulted in some visual improvement. Central retinal artery occlusion has been known to produce diffuse intraretinal edema instead of cystoids changes. We would like to discuss a case of acute cystoid macular edema in acute central retinal artery occlusion.
Case Report: Oxytocin and Its Association With Psychotherapy Process and Outcome
Authors: Ariella Grossman-Giron, Dana Tzur Bitan, Sigal Zilcha-Mano, Uri Nitzan, Shlomo Mendlovic, Hagai Maoz
Journal: Front Psychiatry (2021)
Keywords: affective disorders, case report, outcome, oxytocin, psychotherapy
MeSH terms: Case Reports

The potential of Oxytocin (OT) as a facilitator of psychotherapy has been previously acknowledged, nonetheless, randomized controlled trials thus far have not yielded conclusive results. One approach suggested to clarify empirical inconsistencies is to refine the study hypotheses and data collection process by utilizing an in-depth idiographic exploration of the investigated phenomena. In this case illustration we provide an in-depth analysis comparing two patients hospitalized in a closed psychiatric ward with depression and undergoing psychotherapy twice a week. These two patients were randomly allocated to receive either OT or placebo, twice a day for a period of 4 weeks. Both patients completed longitudinal assessments of process and outcome measures, and therapists' clinical notes were extracted and reviewed. Reliable clinical change was calculated for all outcome and process measures. The results indicated that the patient receiving OT showed significant improvement in interpersonal distress, as well as in anxiety and depression symptoms, while the placebo patient showed no significant change during the study period. Furthermore, while both patients showed no significant changes in the therapeutic alliance ratings, the therapist of the OT patient regularly reported positive changes in alliance in the medical notes, while no such report was observed in the placebo patient. These results suggest that changes produced by OT administration may be more noticeable by the therapist. Implications for future studies aimed at assessing the effect of OT on psychotherapy process and outcome are discussed.
Endogenous ocular nocardiosis
Authors: George Castle, Gregory Heath
Journal: GMS Ophthalmol Cases (2021)
Keywords: cyriacigeorgica, nocardia, ocular nocardiosis
MeSH terms: Case Reports

Nocardiosis is an extremely rare, opportunistic, Gram-positive bacterial infection that has a high mortality rate in those patients who are immunocompromised in the presence of disseminated disease. We describe a case of an elderly lady being treated with high-dose corticosteroids for giant cell arteritis that presented with ischaemic optic atrophy. Subsequent deterioration was accompanied by the development of subretinal lesions. Further extensive evaluation discovered she had pulmonary nocardiosis with widespread dissemination. The case has several learning points, in particular: Subretinal abscesses maybe a harbinger of serious hitherto undiagnosed infection which portend a poor prognosis.Vital signs in the immunocompromised may appear to be normal in the presence of serious infection.
Case Report: Hemophagocytic Lymphohistiocytosis and Non-Tuberculous Mycobacteriosis Caused by a Novel GATA2 Variant
Authors: Thomas Mika, Deepak Vangala, Matthias Eckhardt, Paul La Rosée, Christoph Lange, Kai Lehmberg, Charlotte Wohlschläger, Saskia Biskup, Ilka Fuchs, Jasmin Mann, Stephan Ehl, Klaus Warnatz, Roland Schroers
Journal: Front Immunol (2021)
Keywords: cd107a, gata2, allogeneic hematopoietic stem cell transplantation, hemophagocytic lymphohistiocytosis, non-tuberculous mycobacteriosis
MeSH terms: GATA2 Transcription Factor / genetics, Genetic Predisposition to Disease, Genetic Variation, Lymphohistiocytosis, Hemophagocytic / diagnosis, Lymphohistiocytosis, Hemophagocytic / genetics, Mycobacterium Infections, Nontuberculous / diagnosis, Mycobacterium Infections, Nontuberculous / genetics, Case Reports, Biomarkers, Disease Management, Female, Genetic Association Studies, Hematopoietic Stem Cell Transplantation, Humans, Immunophenotyping, Killer Cells, Natural / immunology, Killer Cells, Natural / metabolism, Lymphohistiocytosis, Hemophagocytic / therapy, Male, Mycobacterium Infections, Nontuberculous / therapy, Positron Emission Tomography Computed Tomography, Treatment Outcome, Biomarkers, GATA2 Transcription Factor, GATA2 protein, human

Hemophagocytic lymphohistiocytosis (HLH) is a disorder of uncontrolled immune activation with distinct clinical features including fever, cytopenia, splenomegaly, and sepsis-like symptoms. In a young adolescent patient a novel germline GATA2 variant (NM_032638.5 (GATA2): c.177C>G, p.Tyr59Ter) was discovered and had resulted in non-tuberculous mycobacterial (NTM) infection and aggressive HLH. Strikingly, impaired degranulation of cytotoxic T-lymphocytes (CTL) and natural killer (NK)-cells was detected in CD107a-analyses. The affected patient was treated with HLA-matched unrelated alloHSCT, and subsequently all hematologic and infectious abnormalities including HLH and NTM resolved. This case supports early alloHSCT in GATA2 deficiencies as curative approach regardless of active NTM infection. Future studies on GATA2 c.177C>G, p.Tyr59*Ter might unravel its potential role in cytotoxic effector cell function and its contribution to HLH pathogenesis.
Cardiac and Systemic Thrombus Caused by Drug Abuse
Authors: John Eliveha, Shravani Vindhyal, Mohinder Vindhyal
Journal: Case Rep Cardiol (2019)
MeSH terms: Case Reports

Drug abuse is an increasing concern all over the world especially in the United States. Methamphetamine have been well established to cause elevated body temperature, irregular heartbeat, seizures, and heart disease. We present a case of ventricular thrombus with systemic emboli in a patient with dilated cardiomyopathy after methamphetamine use.
Systemic inflammatory response syndrome and prolonged hypoperfusion lesions in an infant with respiratory syncytial virus encephalopathy
Authors: Kenji Miyamoto, Masahide Fujisawa, Hajime Hozumi, Tatsuo Tsuboi, Shigeko Kuwashima, Jun-ichi Hirao, Kenichi Sugita, Osamu Arisaka
Journal: J Infect Chemother (2013)
MeSH terms: Brain Diseases / pathology, Brain Diseases / virology, Respiratory Syncytial Virus Infections / pathology, Systemic Inflammatory Response Syndrome / pathology, Systemic Inflammatory Response Syndrome / virology, Case Reports, Brain / pathology, Humans, Infant, Newborn, Male, Respiratory Syncytial Virus Infections / virology, Seizures / pathology, Seizures / virology

Respiratory syncytial virus (RSV) is a cause of neurological complications in infants. We report a rare case of RSV encephalopathy in an infant who presented with poor sucking and hypothermia at 17 days of age after suffering from rhinorrhea and a cough for several days. After hospitalization, the patient presented with stupor and hypotonia lasting for at least 24 h, and was intubated, sedated, and ventilated for treatment of pneumonia. These symptoms led to diagnosis of pediatric systemic inflammatory response syndrome (SIRS) caused by RSV infection. High-dose steroid therapy was combined with artificial ventilation because the initial ventilation therapy was ineffective. Interleukin (IL)-6 levels in spinal fluid were markedly increased upon admission, and serum IL-6 and IL-8 levels showed even greater elevation. The patient was diagnosed with RSV encephalopathy. On day 5, high signal intensity in the bilateral hippocampus was observed on diffusion-weighted magnetic resonance imaging (MRI). On day 14, the patient presented with delayed partial seizure and an electroencephalogram showed occasional unilateral spikes in the parietal area, but the hippocampal abnormality had improved to normal on MRI. (99m)Tc-labeled ethylcysteinate dimer single-photon emission computed tomography (SPECT) on day 18 showed hypoperfusion of the bilateral frontal and parietal regions and the unilateral temporal region. SPECT at 3 months after onset still showed hypoperfusion of the bilateral frontal region and unilateral temporal region, but hypoperfusion of the bilateral parietal region had improved. The patient has no neurological deficit at 6 months. These findings suggest that RSV encephalopathy with cytokine storm induces several symptoms and complications, including SIRS and prolonged brain hypoperfusion on SPECT.