OpenMed/multicare-articles huggingface dataset:
Agitated Depression Associated With Flurazepam Discontinuation
Authors: Mohamed Salih, Reem Mohamed Osman, Wala Alim, Leena Khalid, Wafa Sosal, Danya Ibrahim, Yassir Mahgoub
Journal: Case Rep Psychiatry (2024)
Keywords: gaba agonists, agitated depression, antidepressants, melancholia
MeSH terms: Case Reports

Agitated depression, also known as melancholia agitata, is a variant of depression characterized by severe symptoms of psychomotor agitation, inner unrest, anxiety, restlessness, prominent vegetative symptoms, and a high risk of suicide. This form of depression is reported to worsen with antidepressants and potentially improve with the use of ECT, lithium, antiepileptics, antipsychotics, and benzodiazepines. We describe a case of a 73-year-old female with a prior history of depression and generalized anxiety disorder who was maintained on flurazepam for 44 years and was admitted for severe depression with psychomotor agitation, prominent vegetative symptoms, thought perseveration, indecisiveness, and psychotic features that emerged following the discontinuation of flurazepam. Symptoms did not resolve with the use of alternative benzodiazepines such as nitrazepam and temazepam and further worsened with the use of several antidepressants. She finally had a complete resolution of these symptoms with a combination of alprazolam, zopiclone, and olanzapine. This case provides insight into this unique variant of depression and the role of GABA agonists in its pathology and management.
Case report: Compound heterozygous variants detected by next-generation sequencing in a Tunisian child with ataxia-telangiectasia
Authors: Nihel Ammous-Boukhris, Rania Abdelmaksoud-Dammak, Dorra Ben Ayed-Guerfali, Souhir Guidara, Olfa Jallouli, Hassen Kamoun, Chahnez Charfi Triki, Raja Mokdad-Gargouri
Journal: Front Neurol (2024)
Keywords: atm, ataxia-telangiectasia, mutations, next generation sequencing, targeted sequencing
MeSH terms: Case Reports

Ataxia-telangiectasia (A-T) is an autosomal recessive primary immunodeficiency disorder (PID) caused by biallelic mutations occurring in the serine/threonine protein kinase (ATM) gene. The major role of nuclear ATM is the coordination of cell signaling pathways in response to DNA double-strand breaks, oxidative stress, and cell cycle checkpoints. Defects in ATM functions lead to A-T syndrome with phenotypic heterogeneity. Our study reports the case of a Tunisian girl with A-T syndrome carrying a compound heterozygous mutation c.[3894dupT]; p.(Ala1299Cysfs3;rs587781823), with a splice acceptor variant: c.[5763-2A>C;rs876659489] in the ATM gene that was identified by next-generation sequencing (NGS). Further genetic analysis of the family showed that the mother carried the c.[5763-2A>C] splice acceptor variant, while the father harbored the c.[3894dupT] variant in the heterozygous state. Molecular analysis provides the opportunity for accurate diagnosis and timely management in A-T patients with chronic progressive disease, especially infections and the risk of malignancies. This study characterizes for the first time the identification of compound heterozygous ATM pathogenic variants by NGS in a Tunisian A-T patient. Our study outlines the importance of molecular genetic testing for A-T patients, which is required for earlier detection and reducing the burden of disease in the future, using the patients' families.
Achieving complete remission in metastatic hepatocellular carcinoma with sintilimab plus sorafenib therapy followed by hepatic resection: a case report
Authors: Kai Cui, Zhongchao Li, Jingtao Zhong, Xuetao Shi, Lei Zhao, Hao Li, Ying Ma
Journal: Front Oncol (2024)
Keywords: pd-1 inhibitor, conversion therapy, extrahepatic metastasis, hepatocellular carcinoma, sintilimab, sorafenib
MeSH terms: Case Reports

Background:
The synergistic effectiveness of combining immune checkpoint inhibitors with targeted therapies has shown promise in improving the conversion rate for unresectable hepatocellular carcinoma (HCC) patients to a potentially resectable status. However, the efficacy of this approach in the context of HCC with extrahepatic metastasis remains to be conclusively determined.
Case presentation:
We report a rare case of advanced HCC with extrahepatic metastasis who achieved long-term survival by a combination of systemic therapy (sintilimab and sorafenib) followed by laparoscopic hepatectomy. A 63-year-old man presented at our hospital with discomfort on the right side of his waist. An enlarged right hepatic lobe mass was subsequently revealed by CT scan. The patient's medical history, including a prior infection with hepatitis B virus, cirrhosis of the liver and an alpha-fetoprotein (AFP) level measuring 41.28 ng/ml substantiated the clinical diagnosis of HCC. On October 30th, 2019, the patient received 200 mg sintilimab intravenously (q3w) plus 200-400 mg BID sorafenib orally, along with antiviral therapy. After six cycles, his disease achieved partial response (PR). On April 26th, 2021, He underwent a laparoscopic hepatectomy. The patient achieved a sustained period of no evidence of disease for 2.5 years and with drug-free survival for 2 years after the resection. His current overall survival is estimated at approximately 4 years.
Conclusions:
This case highlights the potential of combining sintilimab and sorafenib in transforming HCC with extrahepatic metastasis into a condition amenable to surgical resection, suggesting that this treatment approach, followed by surgery, may lead to complete remission.
Functional recovery of a 41-year-old quadriplegic spinal cord injury patient following multiple intravenous infusions of autologous adipose-derived mesenchymal stem cells: a case report
Authors: Ridhima Vij, Hosu Kim, Hyeonggeun Park, Thanh Cheng, Djamchid Lotfi, Donna Chang
Journal: Front Transplant (2023)
Keywords: adipose-derived, autologous, case report, mesenchymal stem cells, spinal cord injury, transplantation
MeSH terms: Case Reports

Spinal cord injury (SCI) is a debilitating disease with clinical manifestations ranging from incomplete neurological deficits affecting sensory and motor functions to complete paralysis. Recent advancements in stem cell research have elucidated the therapeutic potential of mesenchymal stem cells (MSCs) for the treatment of patients with SCI. Here, we present a case of a 41-year-old quadriplegic male individual who experienced a traumatic C-5 incomplete SCI, after slipping off a boat in Florida Keys on August 4, 2017. He was diagnosed with C5-C6 Grade 2 anterolisthesis with flexion teardrop fracture of the anterior C6 with jumped facet on the right and perched facet on the left at C5-C6 with spinal canal stenosis. On September 12, 2019, an Individual Expanded Access Protocol was approved for administration of multiple infusions of autologous, adipose-derived MSCs (adMSCs) for the treatment of this quadriplegic incomplete C5-6 SCI patient. Thirty-four (34) recurrent infusions each with 200 million cells were administered, over a period of ∼2.5 years, which resulted in significant improvements in his quality-of-life as demonstrated by substantial improvements in SCIM-III (Spinal Cord Independence Measure III) scores. Additionally, electromyography/nerve conduction velocity (EMG/NCV) studies showed improvements in the patient's motor and sensory function. No safety concerns were presented, and no serious adverse events were reported during the entire course of treatment. Multiple intravenous infusions of autologous HB-adMSCs for treatment of SCI demonstrated significant enhancements in the patient's neurological function with improved quality-of-life. Further research is needed to evaluate the results of this study.
Fibrous dysplasia: A tale of two syndromes
Authors: Jacques Fourie, Farhana Suleman, Zarina Lockhat, Kumeshnie Kollapen
Journal: SA J Radiol (2024)
Keywords: mazabraud syndrome, mccune–albright syndrome, fibrous dysplasia, musculoskeletal, skeletal dysplasia
MeSH terms: Case Reports

Fibrous dysplasia (FD) is a rare, non-inherited, congenital bone disorder which may be monostotic or polyostotic. The polyostotic form may rarely present in syndromic forms when associated with extra-skeletal manifestations. Mazabraud syndrome is a rare syndrome consisting of polyostotic FD presenting with intramuscular myxomas. McCune-Albright syndrome is recognised by polyostotic FD, precocious puberty and 'café au lait' spots. This report describes an adult patient with Mazabraud syndrome and a child with McCune-Albright syndrome.
Contribution:
Radiographic findings are typical with bowing deformities, sclerotic, lucent or mixed lesions and bony expansion, often with endosteal scalloping. MRI is often non-contributory and may actually mimic a more aggressive process. Early detection and correct diagnosis allow for early preventative treatment and rehabilitation to prevent devastating neurological sequelae and disability.
Challenges in the Monitoring of Therapeutic Plasma Exchange during Acute Heparin-Induced Thrombocytopenia in Adults under ECMO
Authors: Nicolas Gendron, Candice Cavalie, Elie Kantor, Sophie Provenchère, Romain Sonneville, Vasiliki Gkalea, Marie-Charlotte Bourrienne, Dorothée Faille, Nadine Ajzenberg
Journal: TH Open (2024)
Keywords: extracorporeal membrane oxygenation, heparin-induced thrombocytopenia, platelet activation, platelet factor 4, therapeutic plasma exchange
MeSH terms: Case Reports

Therapeutic plasma exchange (TPE) has been proposed to remove heparin-induced thrombocytopenia (HIT) antibodies before planned thoracic surgery in patients with acute HIT and to allow brief re-exposure to heparin during surgery. In patients on extracorporeal membrane oxygenation (ECMO), simultaneous administration of TPE and alternative nonheparin anticoagulant therapies is challenging. We report 2 patients on ECMO with acute HIT who underwent repeated TPE to enable cardiothoracic surgery with the use of heparin. In both cases, serial monitoring of HIT antibody titer and heparin-induced platelet activation assay (HIPA) was performed. The effect of adding exogenous platelet factor 4 (PF4) in the HIPA was also tested. Negative anti-PF4/H IgG levels were achieved after 5 and 3 TPE sessions, respectively and patients could beneficiate from surgery with brief heparin re-exposure without any thrombotic complication. Negative HIPA results were obtained before negative anti-PF4/H IgG in one patient but remained positive in the other despite very low antibody titers. The addition of PF4 in HIPA led to more contrasted results for the two patients. Serial HIT screening including immunological and functional assays is necessary to closely monitor TPE in acute HIT patients on ECMO who require surgery. The addition of PF4 in HIPA could help detect clinically relevant platelet-activating antibodies and guide re-exposure to heparin.
Sclerosing Odontogenic Carcinoma With a Prominent Clear Cell Component Mimicking Odontogenic Clear Cell Carcinoma: An Extremely Rare Case With a Fatal Clinical Outcome
Authors: Fa-Chih Shen, Katsumitsu Shimada, Rita R Roy, Yutaka Kitamura, Hiromasa Hasegawa
Journal: Cureus (2024)
Keywords: clear cell morphology, ewsr1 fish, metastasis, recurrence, sclerosing odontogenic carcinoma, vascular invasion
MeSH terms: Case Reports

Sclerosing odontogenic carcinoma (SOC) is an exceedingly rare odontogenic carcinoma known for its locally aggressive yet indolent behavior. There have been no reports of metastasis to distant organs, except a single case involving lymph node metastasis. This report details the case of a 49-year-old female who presented with a well-demarcated radiolucent lesion in the mandible, accompanied by root resorption and tooth displacement. Microscopically, the lesion exhibited a distinctive composition, with two distinct components: cords of epithelium embedded within an abundant collagenous stroma and solid nests of clear polygonal cells surrounded by hyalinized stroma. Notably, the tumor exhibited direct invasion into the submental muscles, accompanied by perineural and vascular invasion, as well as cortical bone loss. Additionally, the clear cells contained diastase-sensitive periodic acid-Schiff-positive granules. Immunohistochemically, the tumor cells displayed positivity for cytokeratin 19 and p63 while testing negative for myoepithelial markers. The Ki-67 index was measured at 23%. Importantly, neitherEWSR1 nor MAML2 rearrangements were detected through fluorescence in situ hybridization (FISH) analysis. Over several years, this patient experienced three instances of local recurrence; notably, four years after the initial surgery, fludeoxyglucose F18-positron emission tomography (18FDG-PET)/CT scans confirmed the presence of pulmonary metastasis. This case presents an unusual histological variation of SOC, marked by vascular invasion, and is notably the first documented case of a fatal outcome in this context.
Liver fibrosis among infants with t(1;22)(p13;q13) acute megakaryoblastic leukemia: a case report and literature review
Authors: Nira Arad-Cohen, Ori Attias, Yaniv Zohar, Yoav H Messinger
Journal: Front Oncol (2024)
Keywords: acute megakaryoblastic leukemia, liver fibrosis, non-down, pediatric, t(1, 22)(p13, q13) translocation
MeSH terms: Case Reports

This case report describes a 2-month-old girl with acute megakaryoblastic leukemia (AMKL) harboring the t(1;22)(p13;q13) translocation, resulting in the RBM15::MRTFA fusion gene. She presented with massive hepatosplenomegaly and liver fibrosis and achieved complete remission with chemotherapy; the liver fibrosis resolved within 2.5 months. After 12 years of follow-up, the patient remained in good health, without relapse. Reviewing the literature on eight additional similar cases of liver fibrosis, this subtype of AMKL predominantly affects female patients below 3 months of age, with a median onset at 6 weeks. High rates of severe complications were observed, with five of nine patients dying within 10 weeks of diagnosis. The authors hypothesized that the proliferation of abnormal megakaryoblasts within the liver leads to the release of profibrotic cytokines, such as TGF-β1, which induces liver fibrosis similar to that observed in transient abnormal myelopoiesis in Down syndrome. Careful monitoring of liver functions and reduced-intensity chemotherapy are recommended for this very young patient population. Nonetheless, long-term survival can be achieved with aggressive supportive care and treatment.
Atypical Antiglomerular Basement Membrane Disease in a Pregnant Patient with Systemic Lupus Erythematosus
Authors: Areerat Ounhasuttiyanon, Ngoentra Tantranont, Thatsaphan Srithongkul
Journal: Case Rep Nephrol (2023)
MeSH terms: Case Reports

Antiglomerular basement membrane disease (anti-GBM) is an unusual cause of glomerulonephritis. Patients usually present with rapidly progressive glomerulonephritis with or without pulmonary hemorrhage. The diagnosis is based on linear deposits of IgG along the GBM and the presence of anti-GBM antibodies. However, cases with atypical anti-GBM disease in which an anti-GBM antibody was not detected have been reported. We report a 29-year-old pregnant woman with underlying systemic lupus erythematosus (SLE) who presented with severe glomerulonephritis due to atypical antiglomerular basement membrane disease. She was initially diagnosed with active lupus nephritis and her renal function gradually worsened after steroid treatment, so the pregnancy was terminated due to the high maternal and fetal risks. A kidney biopsy showed linear capillary wall staining with fibrous crescents without endocapillary proliferation. The anti-GBM antibody showed negative results two times, so she was diagnosed with atypical anti-GBM disease. Treatment began with intravenous pulse methylprednisolone and continued with mycophenolate mofetil and prednisolone. Due to the intolerability of side effects, the treatment regimen was subsequently changed to intravenous cyclophosphamide. Although she had a significant improvement in clinical edema, serum albumin, and hematuria, her renal function gradually decreased during the 12 months of treatment. A review of the literature showed that the atypical anti-GBM is less aggressive than the typical anti-GBM disease. However, several patients had persistent renal dysfunction and 20-30% of patients had progression to ERSD. To the best of our knowledge, this is the first case of atypical anti-GBM disease in pregnant patients with suspected SLE reported in the literature.
Plasma exchange for two patients with autoimmune GFAP astrocytopathy with rapid progression to respiratory failure: a case report
Authors: Jing Du, Shugang Cao, Lan Xia, Qi Li, Yanghua Tian
Journal: Front Immunol (2023)
Keywords: efficacy, glial fibrillary acidic protein astrocytopathy, intravenous immunoglobulin, intravenous methylprednisolone, plasma exchange, respiratory failure
MeSH terms: Immunoglobulins, Intravenous / therapeutic use, Plasma Exchange, Case Reports, Glial Fibrillary Acidic Protein, Humans, Methylprednisolone / therapeutic use, Spinal Cord, Glial Fibrillary Acidic Protein, Immunoglobulins, Intravenous, Methylprednisolone

Background:
Patients with autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy can present with early neurological deterioration, but rapidly progressive respiratory failure is rarely reported. We present the cases of two patients with autoimmune GFAP astrocytopathy who experienced rapid progression to respiratory failure and were effectively treated using plasma exchange therapy.
Case report:
Two patients were diagnosed with autoimmune GFAP astrocytopathy. Their initial symptoms were consistent with those of previously observed cases of autoimmune GFAP astrocytopathy. However, they experienced rapid progression to respiratory failure due to their lesion location. Specifically, case 1 had lesions in the medulla oblongata, and case 2 had lesions in the high cervical spinal cord, which are both common sites of lesions causing respiratory failure. The patients did not respond well to intravenous methylprednisolone and intravenous immunoglobulin initially and could not be withdrawn from ventilator support. Fortunately, subsequent plasma exchange therapy led to significant clinical improvements and successful withdrawal from ventilator support.
Discussion:
Patients with autoimmune GFAP astrocytopathy can present with rapidly progressive respiratory failure. Early treatment with plasma exchange can be beneficial in withdrawing patients from ventilator support.
Serotoninergic antidepressants combination in psilocybin-assisted psychotherapy: a case report
Authors: André Do, Vanessa Michaud, Jean-François Stephan, Miltiadis Moreau, Élise Benoît, Félix-Antoine Bérubé, Antoine Bibaud-De Serres, Alain Taillefer, Philippe Vincent
Journal: Front Psychiatry (2024)
Keywords: antidepressants combination, case report, difficult-to-treat depression, psilocybin-assisted psychotherapy, serotoninergic antidepressants
MeSH terms: Case Reports

Psilocybin has reemerged as a promising treatment for difficult-to-treat depression (DTD). Although there is limited evidence regarding interactions between psilocybin and other psychotropic drugs, clinical trials require that patients discontinue their antidepressants before study entry to isolate the benefits of psilocybin and to minimize the risk of adverse events. We present the first case of an adult patient with DTD who received psilocybin-assisted psychotherapy (PAP) in combination with two serotoninergic antidepressants (duloxetine and vortioxetine). Since he displayed a partial response after the first PAP session, he agreed to discontinue duloxetine (but refused to stop vortioxetine) before the second PAP session to see if it could improve the therapeutic efficacy of psilocybin. However, his anxiety and depressive symptoms worsened. Psilocybin was well-tolerated in both PAP sessions; mild headaches were the main adverse effects experienced by the patient, and there were no cardiovascular safety concerns. This case report suggests that serotoninergic antidepressants combination with psilocybin appears to be safe and that antidepressant discontinuation prior to PAP may not be necessary. Since the continuation of antidepressants during PAP has the potential to improve treatment acceptability and accessibility, future research should assess whether psilocybin can be administered concurrently with antidepressants.
An Unusual Diagnosis for an Infant Presenting with Olive-Shaped Abdominal Mass
Authors: Ghada Maher Abdulaziz, Khalid Maher Mohamed, Ayat Hassan Zilai, Asmaa Ibrahim Attieh, Eman Abdulmohsen Alhammad, Abdullah Yahya Akkam
Journal: Case Rep Pediatr (2023)
MeSH terms: Case Reports

A 3-month-old male infant was bought to the emergency department with almost 3 weeks of projectile, bilious emesis after each feed. On presentation, he was cachectic and severely dehydrated and had a palpable olive in the epigastric region. Hypertrophic pyloric stenosis was excluded by abdominal ultrasound. The barium meal demonstrated a massively distended stomach, absence of distal gas, and triple bubble sign. Given the radiological findings, the patient underwent an emergency exploratory laparotomy and a congenital duodenal web (CDW) was discovered. While the clinical picture suggested the diagnosis of HPS, barium meal eventually revealed congenital duodenal web. To our knowledge, no other cases of palpable olive mass as the presenting sign of proximal bowel obstruction have been published.
A Rare Case of Acute Methotrexate Toxicity Leading to Bone Marrow Suppression
Authors: Samreen Khuwaja, Matthew Lyons, Beenish Zulfiqar
Journal: Case Rep Rheumatol (2024)
MeSH terms: Case Reports

Methotrexate is a first-line disease modifying antirheumatic drug used for the treatment of inflammatory arthritis. Bone marrow suppression is a common adverse reaction of methotrexate following its long-term use. However, low dose methotrexate is rarely associated with life-threatening bone marrow suppression. This case represents an atypical presentation of acute bone marrow suppression shortly after initiating treatment with low-dose methotrexate. A 76-year-old male patient presented with oral ulcers, poor oral intake, and acute kidney injury within 3 weeks of initiating 15 mg weekly of methotrexate for seronegative rheumatoid arthritis. Complete blood count was suggestive of pancytopenia with hemoglobin of 10.8 g/dL, total white cell count 3.36 (1000/uL) (absolute neutrophil count 490 micro/L), platelets 19,000, serum albumin 3.1 g/dL, ESR elevated at 83 mm/hr, CRP elevated at 86.6 mg/L, and ferritin mildly elevated at 625 ng/mL. Peripheral blood smear showed signs of bone marrow suppression but no signs of hemolysis or inflammation. Serum methotrexate levels were minimally detectable at 0.05 umol/L. Methotrexate was held, within 48 hours of admission; his WBC dropped to 1.48, Hgb 9.9, and platelets 15,000. ANC reached a nadir of 220. He was treated with broad spectrum antibiotics, high-dose folic acid, fluconazole for oral thrush, and intravenous bicarbonate and leucovorin supplementation, dosed at PO 20 mg daily. On day 7, his blood count showed improvement along with improvement in his symptoms. The patient was discharged home on day 8th of hospitalization and upon one month follow-up in rheumatology clinic, his complete blood count had normalized. This case highlights multiple risk factors that triggered pancytopenia in our elderly patient, resulting in acute methotrexate toxicity.