OpenMed/multicare-articles huggingface dataset:
Case report: unprecedented case of infantile cerebral infarction following COVID-19 and favorable outcome
Authors: Shuhong Zheng, Hairui Chen, Weiwei Xu, Haifeng Li, Zhongyu Chen, Jianhua Li, Enfu Tao
Journal: Front Immunol (2024)
Keywords: covid-19, cerebral infarction, hemiplegia, infant, rehabilitation
MeSH terms: Blood Coagulation Disorders, COVID-19 / complications, Case Reports, Research Support, Non-U.S. Gov't, Comment, Cerebral Infarction / etiology, Child, Cytokines, Humans, Infant, SARS-CoV-2, Cytokines

The 2019 novel coronavirus, SARS-CoV-2, was highly prevalent in China as of December 2022, causing a range of symptoms, predominantly affecting the respiratory tract. While SARS-CoV-2 infection in children is generally mild, severe cases, especially in infants, are rare. We present a case of a previously healthy 7-month-old infant who developed cerebral infarction and coagulation dysfunction three days after COVID-19 onset. Clinically, the infant had weakness in the left limbs and pinpoint bleeding spots. A cranial magnetic resonance imaging showed ischemic strokes in the right basal ganglia and thalamus. Laboratory tests indicated thrombocytopenia and coagulation dysfunction. Inflammatory cytokines like interleukin-10 were elevated, with increased CD3+, CD4+, and CD8+ T lymphocytes but decreased CD3- CD16+ CD56+ natural killer cells. Treatment included mannitol, dexamethasone, oral aspirin, and vitamins B1 and B6 for reducing intracranial pressure, antiinflammation, anticoagulation, and nerve support, respectively. During the recovery phase, rehabilitation therapy focused on strength training, fine motor skills, and massage therapy. The infant gradually improved and successfully recovered. While rare, such cases can lead to severe complications. These combined efforts were instrumental in achieving significant functional recovery in the patient, demonstrating that even in severe instances of pediatric cerebral infarction due to COVID-19, positive outcomes are attainable with early and comprehensive medical response.
Case Report: Phantom limb pain relief after cognitive multisensory rehabilitation
Authors: Marina Zernitz, Carla Rizzello, Marco Rigoni, Ann Van de Winckel
Journal: Front Pain Res (Lausanne) (2024)
Keywords: adults, amputation, cognitive multisensory rehabilitation, lower limb, mental body representations, multisensory motor imagery, neurological rehabilitation, phantom limb pain
MeSH terms: Case Reports

Introduction:
Relieving phantom limb pain (PLP) after amputation in patients resistant to conventional therapy remains a challenge. While the causes for PLP are unclear, one model suggests that maladaptive plasticity related to cortical remapping following amputation leads to altered mental body representations (MBR) and contributes to PLP. Cognitive Multisensory Rehabilitation (CMR) has led to reduced pain in other neurologic conditions by restoring MBR. This is the first study using CMR to relieve PLP.
Methods:
A 26-year-old woman experienced excruciating PLP after amputation of the third proximal part of the leg, performed after several unsuccessful treatments (i.e., epidural stimulator, surgeries, analgesics) for debilitating neuropathic pain in the left foot for six years with foot deformities resulting from herniated discs. The PLP was resistant to pain medication and mirror therapy. PLP rendered donning a prosthesis impossible. The patient received 35 CMR sessions (2×/day during weekdays, October-December 2012). CMR provides multisensory discrimination exercises on the healthy side and multisensory motor imagery exercises of present and past actions in both limbs to restore MBR and reduce PLP.
Results:
After CMR, PLP reduced from 6.5-9.5/10 to 0/10 for neuropathic pain with only 4-5.5/10 for muscular pain after exercising on the Numeric Pain Rating Scale. McGill Pain Questionnaire scores reduced from 39/78 to 5/78, and Identity (ID)-Pain scores reduced from 5/5 to 0/5. Her pain medication was reduced by at least 50% after discharge. At 10-month follow-up (9/2013), she no longer took Methadone or Fentanyl. After discharge, receiving CMR as outpatient, she learned to walk with a prosthesis, and gradually did not need crutches anymore to walk independently indoors and outdoors (9/2013). At present (3/2024), she no longer takes pain medication and walks independently with the prosthesis without assistive devices. PLP is under control. She addresses flare-ups with CMR exercises on her own, using multisensory motor imagery, bringing the pain down within 10-15 min.
Conclusion:
The case study seems to support the hypothesis that CMR restores MBR which may lead to long-term (12-year) PLP reduction. MBR restoration may be linked to restoring accurate multisensory motor imagery of the remaining and amputated limb regarding present and past actions.
Case Report: A management strategy and clinical analysis of primary squamous cell carcinoma of the colon
Authors: Xiang Wu, Shenyong Su, Yaning Wei, Dan Hong, Zhiyu Wang
Journal: Front Oncol (2023)
Keywords: adjuvant chemotherapy, case report, colorectal cancer, immune checkpoint inhibitors, microsatellite instability, squamous cell carcinoma
MeSH terms: Case Reports

Primary colorectal squamous cell carcinoma (CSCC) is a rare pathological subtype. Currently, clinical data with regards to its prognosis and treatment is limited, and there is no optimal treatment method. The case presented involves a proficient mismatch repair (pMMR) and microsatellite-stable (MSS) Colorectal cancer (CRC) patient with squamous cell carcinoma (SCC) located transversely in the colon. Based on the imaging assessment, the tumor infiltration depth is classified as T4. After receiving 4 cycles of neoadjuvant treatment with oxaliplatin and capecitabine (XELOX), the patients were evaluated for partial response (PR) in 2 cycles and stable disease (SD) in 4 cycles. The patient underwent a right hemicolectomy and received postoperative paclitaxel/cisplatin (TC) adjuvant chemotherapy. After 23 months, a systemic examination revealed abdominal metastasis. A needle biopsy was conducted on the detected abdominal metastases, with the resulting pathology indicating the presence of metastatic SCC. The individual exhibited expression of programmed cell death ligand 1 (PD-L1) and a mutation in the TP53 gene. Considering the patient's disease recurrence based on medical history, a treatment plan was formulated. This involved Sintilimab plus Cetuximab and the combination of leucovorin, fluorouracil, and irinotecan (FOLFIRI) regimen. The patient received four cycles of treatment with an efficacy evaluation of SD- and seven cycles of treatment with an efficacy evaluation of SD+, which resulted in a progression-free survival (PFS) duration of 7 months. This case study presents the conventional XELOX chemotherapy protocol, which has shown limited effectiveness, and highlights the favorable results achieved by implementing the TC adjuvant chemotherapy regimen in individuals diagnosed with primary colonic SCC. Furthermore, combining immune checkpoint blockade (ICB) with other therapies for patients with advanced disease is anticipated to provide an extended duration of survival.
Liposomal mitoxantrone-based multidrug chemotherapy as a bridge to allogeneic hematopoietic stem cell transplantation in relapsed/refractory acute lymphoblastic leukemia (ALL) after immunotherapy failure: a case report
Authors: Jin Deng, Hongxia Chen, Yi Yang, Hua Ji, Hui Liu
Journal: Front Med (Lausanne) (2024)
Keywords: acute lymphoblastic leukemia, allotransplantation, immunotherapy, mitoxantrone liposomes, relapse/refractory
MeSH terms: Case Reports

Acute lymphoblastic leukemia (ALL) represents a malignancy involving early-stage differentiated lymphoid cells that invade the bone marrow, blood, and extramedullary sites. First-line treatment spans 2-3 years with induction, consolidation, intensification, and long-term maintenance phases. Relapsed/refractory (R/R) ALL typically carries an adverse prognosis, and there is currently no standard of care for this disease. Here, we present a case of R/R ALL that responded effectively to liposomal mitoxantrone-based multidrug chemotherapy, resulting in a rapid complete response after 35 days of therapy. Subsequently, the patient was successfully treated with allo-HSCT. At 5 months follow-up, the patient was alive and leukemia-free. Additionally, no severe adverse events were recorded during liposomal mitoxantrone treatment or hospitalization for allo-HSCT. Given the encouraging efficacy and the manageable adverse events observed in our case, liposomal mitoxantrone-based multidrug chemotherapy should be further explored as a bridge to allo-HSCT in patients with R/R ALL.
Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis
Authors: Sami Bouchoucha, Asma Chikhaoui, Dorra Najjar, Khouloud Zayoud, Mohamed Zouari, Mohamed Nabil Nessib, Rym Kéfi, Houda Yacoub-Youssef
Journal: Front Pediatr (2023)
Keywords: tpm2, oligogenic inheritance, rare orthopedic disorders, spondylospinal thoracic dysostosis, whole exome sequencing
MeSH terms: Case Reports

Background:
Spondylocostal dysostosis is a rare genetic disorder caused by mutations in DLL3, MESP2, LFNG, HES7, TBX6, and RIPPLY2. A particular form of this disorder characterized by the association of spondylocostal dysostosis with multiple pterygia has been reported and called spondylospinal thoracic dysostosis. Both disorders affect the spine and ribs, leading to abnormal development of the spine. Spondylospinal thoracic dysostosis is a rare syndrome characterized by the association of multiple vertebral segmentation defects, thoracic cage deformity, and multiple pterygia. This syndrome can be considered a different form of the described spondylocostal dysostosis. However, no genetic testing has been conducted for this rare disorder so far.
Methods:
We report here the case of an 18-month-old female patient presenting the clinical and radiological features of spondylospinal thoracic dysostosis. To determine the underlying genetic etiology, whole exome sequencing (WES) and Sanger sequencing were performed.
Results:
Using WES, we identified a variant in the TPM2 gene c. 628C>T, already reported in the non-lethal form of multiple pterygium syndrome. In addition, following the analysis of WES data, using bioinformatic tools, for oligogenic diseases, we identified candidate modifier genes, CAP2 and ADCY6, that could impact the clinical manifestations.
Conclusion:
We showed a potential association between TPM2 and the uncommon spondylocostal dysostosis phenotype that would require further validation on larger cohort.
A Review of Gingival Recession and the Surgical Managements According to Their Classification and Etiologic Backgrounds: A Clinical Case Study
Authors: Dler Ali Khursheed, Faraedon Mostafa Zardawi, Awder Nuree Arf
Journal: Case Rep Dent (2024)
MeSH terms: Case Reports

Mucogingival deformities are a group of defects that occur around the cervical area of the teeth. Gingival recession is the most common type of these deformities. It might happen separately or with other related deformities like thin gingival biotypes, shallow vestibule, high frenal attachment, and cervical dental steps. Recent classification of mucogingival deformity matrix has collectively grouped gingival recession types with other mucogingival deformities and dental steps to establish the proper diagnosis and evaluate surgical/restorative management and prognosis of the treatment outcomes. The following case presentations have presented with a technical review, clinical evaluation, and surgical and/or restorative treatment according to the recent matrix.
A rare case of a young man with mediastinal synovial sarcoma
Authors: Intan Nurani Indrajanu, Isnin Anang Marhana, Dwi Wahyu Indrawanto
Journal: Respir Med Case Rep (2024)
Keywords: doxorubicin ifosfamide, mediastinal synovial sarcoma, pleural effusion
MeSH terms: Case Reports

Synovial sarcoma is a rare and aggressive tumor that primarily affects soft tissues, including the mediastinum, and predominantly affects younger adults. A 23-year-old male patient with mediastinal synovial sarcoma underwent debulking surgery and received 3 cycles of doxorubicin, ifosfamide, and mesna chemotherapy. Mediastinal synovial sarcoma presents diagnostic challenges and poor prognosis. Treatment involves surgical resection, adjuvant chemotherapy, and radiotherapy. Mediastinal synovial sarcoma can be diagnosed through histopathological and immunohistochemical examination. Adjuvant chemotherapy led to a partial response, showing a decrease in tumor size and resolution of pleural effusion, demonstrating a positive interim outcome.
Case Report: Balancing immune responses - multiple sclerosis disease exacerbation under BRAF/MEK treatment for malignant melanoma
Authors: Katrin Pape, Maria Protopapa, Muriel Schraad, Falk Steffen, Frauke Zipp, Stefan Bittner
Journal: Front Oncol (2023)
Keywords: b cell depletion, braf/mek treatment, individualized therapy, malignant melanoma, multi-color flow cytometry, multiple sclerosis, ocrelizumab
MeSH terms: Case Reports

Background:
Combination treatment with BRAF/MEK inhibitors favorably impact progression-free survival in malignant melanoma. However, it may cause paradoxical activation of the MAPK/ERK pathway in immune cells without BRAF mutation, which may lead to over activation of the immune system, especially in patients with pre-existing autoimmune conditions. In this case report, treatment of malignant melanoma with BRAF/MEK inhibitors was associated with radiological disease exacerbation of pre-existing multiple sclerosis (MS).
Case presentation:
A 47-year-old patient with pre-existing MS was diagnosed with malignant melanoma in June 2020. Anti-tumor treatment was initiated with a combination therapy of BRAF inhibitor dabrafenib and MEK inhibitor trametinib. In February 2022, the patient presented at our neurological clinic after routine MRI revealed exacerbation of radiological MS disease activity with ten new and gadolinium-enhancing lesions, and concomitant high levels of neurofilament light chain (NfL) in serum, a marker for axonal damage. In-depth analysis of immune cells in both peripheral blood and cerebrospinal fluid was performed by multi-color flow cytometry. After treatment with the B cell-depleting antibody ocrelizumab, MS disease stability was obtained and anti-tumor medication could be continued.
Conclusions:
Immunomodulatory treatment in cancer patients is highly effective from an oncological point of view, but may be associated with autoimmune side effects. This is of special importance in patients with pre-existing autoimmune diseases, as reflected by our case of MS disease reactivation under treatment with BRAF/MEK inhibitors. In our case, sequential modulation of immune cell subsets by B cell depletion, associated with marked shifts in B and T cell subsets, allowed for stabilization of disease and continuation of anti-tumor treatment.
Flow-diverter stents combined with flow-T stenting-assisted coiling for the treatment of a large basilar apex aneurysm: a case report with a 9-month follow-up
Authors: Hao Wang, Jingyu Zhang, Huajiang Yang, Shi Zeng, Tengyun Guo, Lunshan Xu, Donghong Yang
Journal: Front Neurol (2024)
Keywords: aneurysm, basilar apex aneurysms, endovascular, flow-diverter devices, supraclinoid aneurysms
MeSH terms: Case Reports

Background:
Endovascular or surgical treatment of wide-neck, large basilar apex aneurysms is challenging. We present a novel concept for the treatment of complex basilar apex aneurysms using flow-diverter devices combined with the flow-T stenting-assisted coiling technique. Assess the efficacy and safety profile of the technique in this complex aneurysm.
Case description:
A patient with multiple unruptured intracranial aneurysms underwent staged treatment. A large basilar apex aneurysm was treated with a flow-diverter stent combined with a flow-T stenting-assisted coiling technique in the first stage, and a giant supraclinoid aneurysm was treated with a flow-diverter stent applied in the second stage. Clinical presentations, technical details, intra- and perioperative complications, and clinical and angiographic outcomes were recorded, with a 9-month follow-up.
Results:
The patient achieved full neurologic recovery postoperatively. Cerebral angiography performed postoperatively showed revascularization, good laminar flow, and no in-stent or adjacent stenosis.
Conclusion:
Flow-diverter stents combined with flow-T stenting-assisted coiling for the treatment of giant basilar apex aneurysms is a feasible technique with efficacy demonstrated at a 9-month follow-up. Staged endovascular treatment of multiple intracranial aneurysms may be a safe and viable option.
Case Report: Prolonged remission of metastatic cisplatin-refractory nasopharyngeal carcinoma with Pembrolizumab
Authors: Wei Cen Wang, Beatrice Preti, Nancy Read, Paul Gibson, Keith Kwan, Eric Winquist
Journal: Front Oncol (2023)
Keywords: pd-1 inhibitor, case report, nasopharyngeal carcinoma, overall survival, pembrolizumab, progression free survival
MeSH terms: Case Reports

Background:
Epstein-Barr virus (EBV)-related nasopharyngeal cancer (NPC) is a common type of cancer in certain areas of the world such as southeast Asia, but is uncommon in Canada. There is currently no reliably effective standard treatment for incurable metastatic EBV-related NPC that progresses after first-line therapy with gemcitabine/cisplatin.
Methods:
With his consent, the health records of a patient with relapsed metastatic EBV-related NPC treated with pembrolizumab immunotherapy were retrospectively reviewed and reported.
Case report:
A male patient presented at age 15 with stage IVA EBV-related NPC. Despite response to initial chemoradiation and adjuvant chemotherapy, the patient experienced metastatic cancer relapse in lymph nodes and bone. There was initial response to gemcitabine/cisplatin chemotherapy, but the cancer progressed after 7 cycles. The patient was then switched to pembrolizumab and had a near complete clinical response after 14 cycles. Serum EBV titers have normalized and CT imaging shows only some healed bone metastasis. Retrospective assessment of tumor CPS PD-L1 was >20. Hypothyroidism developed, possibly due to radiation treatment, but otherwise he did not experience any other immune-mediated toxicities on or following treatment, which lasted in total 2 years with 41 cycles. To date, the patient has been observed off pembrolizumab for over one year and is highly functional without evidence of disease progression.
Conclusion:
This case illustrates the potential benefit of immunotherapy for improving survival and quality of life in selected patients with metastatic EBV-positive cisplatin-refractory NPC.
Case report: Drug reaction with eosinophilia and systemic symptoms (DRESS) induced by ceftazidime in a connective tissue disease (CTD) patient
Authors: Rui Dai, Ziran Niu, Yang Yang, Xin Liu, Bo Zhang
Journal: Front Pharmacol (2024)
Keywords: hla-b∗15
MeSH terms: Case Reports

Drug reaction with eosinophilia and systemic symptoms (DRESS) is a rare and severe cutaneous adverse drug reactions (SCARs) with high mortality. Antibiotics are the most frequent causative agents related to DRESS. However, it is rarely reported in cephalosporins, especially for ceftazidime. Here, we reported a case of ceftazidime-induced DRESS with HLA genotypic polymorphism as a risk factor. A 58-year-old woman with connective tissue disease was intravenously infused with ceftazidime for the treatment of pneumonia and intestinal infection, followed by the presence of fever, rash, and hematologic and hepatic laboratory abnormalities. DRESS was diagnosed and the positive polymorphism in HLA-B*15:02 was found. Our case illustrated the necessity to clarify the patho-mechanism and the use of pretreatment HLA analysis to prevent ceftazidime-related DRESS may be a valuable option soon.
Navigating the Complexity of a Bipolar Pregnant Patient With Multiple Comorbidities
Authors: Paula Traugott, Adriana Medina, Jonathan M Parker
Journal: Cureus (2024)
Keywords: bipolar disorder i, epilepsy, pregnancy, psychiatric management, psychogenic nonepileptic seizures, substance use disorder (sud)
MeSH terms: Case Reports

Bipolar disorder I (BDI) is a psychiatric disorder characterized by the occurrence of at least one manic episode. Within the scope of neurological disorders, epilepsy and psychogenic nonepileptic seizures (PNES) share clinical features and can be differentiated using electroencephalogram (EEG). Substance use disorder is a condition defined by impaired control, risky use, social impairment, and addictive behaviors. We present the case of a 20-year-old pregnant woman with BDI associated with a history of epilepsy, PNES, and polyvalent substance use. The patient presented to the emergency department via the Baker Act involuntary hold multiple times throughout her pregnancy. Recognizing that the welfare of the mother and child was at risk, the court ordered a two-month commitment of inpatient psychiatric treatment at 30 weeks' gestation to ensure safe delivery. Comprehensive inpatient treatment, including risperidone, levetiracetam, lacosamide, haloperidol, diphenhydramine, lorazepam, and later clozapine, and a discharge plan for both the mother and the child are described in detail. Our goal is to contribute to the growing body of knowledge on the management of complex pregnant patients with psychiatric conditions in order to optimize outcomes for maternal and fetal health.
Case report: Development of central precocious puberty in a girl with late-diagnosed simple virilizing congenital adrenal hyperplasia complicated with Williams syndrome
Authors: Eun Young Joo, Myung Ji Yoo, Su Jin Kim, Woori Jang, Ji-Eun Lee
Journal: Front Endocrinol (Lausanne) (2024)
Keywords: williams syndrome, case report, central precocious puberty, congenital adrenal hyperplasia, late diagnosis, simple virilizing type
MeSH terms: Adrenal Hyperplasia, Congenital / complications, Adrenal Hyperplasia, Congenital / diagnosis, Adrenal Hyperplasia, Congenital / genetics, Puberty, Precocious / diagnosis, Puberty, Precocious / etiology, Puberty, Precocious / genetics, Virilism / diagnosis, Virilism / genetics, Williams Syndrome / complications, Williams Syndrome / diagnosis, Williams Syndrome / genetics, Case Reports, Research Support, Non-U.S. Gov't, Child, Preschool, Female, Humans, Mutation, Steroid 21-Hydroxylase / genetics, Steroid 21-Hydroxylase, CYP21A2 protein, human, Congenital adrenal hyperplasia due to 21 hydroxylase deficiency

Congenital adrenal hyperplasia (CAH) and Williams Syndrome (WS; MIM # 194050) are distinct genetic conditions characterized by unique clinical features. 21-Hydroxylase deficiency (21-OHD; MIM #201910), the most common form of CAH, arises from mutations in the CYP21A2 gene, resulting in virilization of the external genitalia in affected females, early puberty in males, and short stature. Williams syndrome, caused by a microdeletion of 7q11.23, presents with distinctive facial features, intellectual disability, unique personality traits, early puberty, and short stature. This case report describe the clinical features of a 4-year-old girl referred due to progressive virilization and developmental delay. Genetic analysis confirmed concurrent CAH and WS, identifying a novel mutation in the CYP21A2 gene (c.1442T>C). Following corticosteroid therapy initiation, the patient developed central precocious puberty. This case report delves into the pubertal change patterns in a patient affected by overlapping genetic conditions, providing valuable insights in to the intricate clinical manifestation and management of these rare complex disorders.