OpenMed/multicare-articles huggingface dataset:
Portal Vein Thrombosis With Hypoplasia in the Left Lobe of the Liver: A Case Report
Authors: Yosuke Fukuda, Naruhito Oda, Hironori Sagara
Journal: Cureus (2024)
Keywords: computer tomography, hypoplasia of the liver, portal vein thrombosis, right heart failure, rivaroxaban
MeSH terms: Case Reports

Portal vein thrombosis (PVT) is an acute-onset, emergent thrombotic disease that is difficult to diagnose without an apparent underlying disease unless the clinician actively suspects its presence. We present a case of acute PVT with underlying left lobe hypoplasia of the liver, a previously undescribed condition. A 79-year-old male patient presented to the emergency department with the chief complaint of anorexia. His medical history included hypertension and an old brain infarction. The patient had no history of surgery. Contrast-enhanced CT revealed the disappearance of the left lobe of the liver and defects in the contrast effect in the left portal vein. The diagnosis reached was PVT with left lobe hypoplasia of the liver. Hypoplasia of the liver manifests few symptoms and may be identified incidentally. Clinicians need to be aware that PVT can develop from various underlying conditions, including hypoplasia of the liver, and we recommend aggressive imaging studies to help detect the presence of PVT when encountering similar cases.
Long-term survival in a patient with primary refractory AML after salvage allogeneic hematopoietic transplantation and post-transplant localized irradiation and venetoclax maintenance: a case report
Authors: Yili Fan, Luyao Wang, Boxiao Chen, Jiawei Zhang, Luyu Yang, Xi Qiu, Huawei Jiang, Lei Zhu, Chao Wang, Yang Xu
Journal: Front Oncol (2023)
Keywords: allogeneic hematopoietic cell transplantation, graft versus leukemia, primary refractory acute myeloid leukemia, radiotherapy, relapse
MeSH terms: Case Reports

For patients with primary refractory AML, allogeneic hematopoietic cell transplantation (allo-HCT) is considered the only curative approach. However, the therapeutic efficacy of salvage transplantation in the non-remission (NR) state remains controversial. We present a patient with primary refractory AML and concomitant central nervous system (CNS) leukemia, who received salvage allo-HCT, localized radiotherapy and venetoclax maintenance. Although he experienced systemic chronic graft-versus-host disease (cGVHD), he remained disease-free for 2 years. We propose that salvage transplantation is a feasible for primary refractory AML and discuss strategies to prevent relapse after allo-HCT, including maintenance therapy and donor lymphocyte infusion (DLI). Finally, we highlight the importance of radiotherapy, which can exert immunomodulatory effects to enhance immune responses against leukemia.
A life-threatening, massive subcutaneous hematoma caused by trauma in a patient with neurofibromatosis type 1: a case report and literature review
Authors: Lu Zhang, Xingtong Wang, Huinan Yin, Wanli Chu, Ming Zhang, Minhui Zhu, Zhiyuan Shi, Zequn Chen, Fan Zhao
Journal: Front Oncol (2024)
Keywords: case report, hematoma, literature review, neurofibromatosis 1, trauma
MeSH terms: Case Reports

Background:
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease that can give rise to the formation of vascular lesions in affected individuals. These lesions, whether occurring spontaneously or as a result of trauma, have the potential to cause severe and even fatal hemorrhage.
Case description:
We presented a case demonstrating the most extensive hematoma ever documented in a patient with NF1, resulting from a minor trauma. He experienced hemodynamic instability due to severe anemia. Arteriography revealed a rupture in the intercostal artery, which was successfully treated through interventional embolization to stop the hemorrhage. Additionally, we implemented a refined surgical approach, beginning with suturing, followed by the meticulous resection of necrotic and aberrant tissues, thereby markedly diminishing bleeding.
Conclusion:
Minor trauma may cause severe bleeding in patients with NF1, which can be life-threatening. Timely diagnosis of NF1 and effective hemostatic techniques are key to successful treatment.
Case report: Paracorporeal lung assist device for 215 days as a bridge-to-lung transplantation in a patient with bronchopulmonary dysplasia and severe pulmonary hypertension
Authors: Sebastian G Michel, Maja Hanuna, Joseph Pattathu, Jelena Pabst von Ohain, Christian Schneider, Theresa Kauke, Nikolaus Kneidinger, Juergen Behr, Katrin Milger, Juergen Barton, Tobias Veit, Christine Kamla, Christoph Mueller, Robert Dzieciol, Lauren Christen, Michael Irlbeck, Roland Tomasi, Jan Abicht, Patrick Scheiermann, Matthias Feuerecker, Robert Dalla-Pozza, Marcus Fischer, Andre Jakob, Matthias Hermann, Nikolaus Haas, Christian Hagl, Jürgen Hörer
Journal: Front Transplant (2023)
Keywords: ecmoextracorporeal membrane oxygenation, bridge-to-lung transplant, lung assist device, lung transplantation, pulmonary hypertension
MeSH terms: Case Reports

Pulmonary hypertension (PH) is a known and life limiting complication of preterm born young adults with bronchopulmonary dysplasia (BPD), ultimately leading to progressive right ventricular (RV) failure. Prognosis remains poor, especially in patients unresponsive to modern vasoactive pharmacotherapy. Therefore, lung transplantation presents the treatment of choice to avert cardiac failure. With limited donor organ availability and long waiting times, the implantation of a paracorporeal lung assist device (PLAD) is a way to bridge the patient as an alternative to veno-arterial ECMO. Herein, we present the case of a prematurely born 23-year-old female, who developed severe PH due to BPD and consequently experienced therapy refractory RV failure. Urgent PLAD implantation was performed and the patient successfully underwent double-lung transplantation after 215 days of PLAD support. No major PLAD-associated complications occurred and full recovery of RV function could be observed after double-lung transplantation.
Combination treatment with telitacicept, cyclophosphamide and glucocorticoids for severe Granulomatous polyangiitis: a case report and literature review
Authors: Liqi Huang, Wenjian Lin, Yu Liu, Junfeng Zhu, Yun Li, Zhihua Zheng, Chun Tang
Journal: Front Immunol (2023)
Keywords: case report, combination treatment, granulomatous polyangiitis, rapidly progressive glomerulonephritis, telitacicept
MeSH terms: Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis / drug therapy, Granulomatosis with Polyangiitis / diagnosis, Review, Case Reports, Research Support, Non-U.S. Gov't, Cyclophosphamide / therapeutic use, Glucocorticoids / therapeutic use, Humans, Male, Middle Aged, Recombinant Fusion Proteins / therapeutic use, Glucocorticoids, telitacicept, Cyclophosphamide, Recombinant Fusion Proteins

Granulomatous polyangiitis (GPA) is a rare autoimmune disease that can involve multiple systems throughout the body, including the ear, nose, upper and lower respiratory tracts. It is classified as an antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis. Telitacicept is a novel recombinant fusion protein targeting B-lymphocyte stimulator (BLyS). Telitacicept can inhibit the development and maturation of abnormal B cells by blocking BLyS, and inhibit the production of antibodies by abnormal plasma cells by blocking APRIL (A proliferation-inducing ligand), which is expected to become a new drug for the treatment of GPA. We report a 64-year-old man diagnosed at our hospital with GPA involving multiple systems including kidneys, lungs, nose and ears. Renal involvement was severe, with a clinical characteristic of rapidly progressive glomerulonephritis and a pathologic manifestation of crescentic nephritis with plasma cell infiltration. The patient was treated with hormones, immunoglobulins and cyclophosphamide (CYC) with the addition of telitacicept and a rapid reduction in hormone dosage. The patient's renal function improved significantly within a short period of time, and his hearing and lung lesions improved significantly. At the same time, he did not develop serious infections and other related complications. Our report suggests that short-term control of the patient's conditions is necessary in GPA patients with organ-threatening disease. Telitacicept combined with CYC and glucocorticoids may be an induction therapy with safety and feasibility. However, more clinical trials are needed to validate the efficacy and safety of the therapeutic regimen.
Case Report: Recurrent pediatric cavernous malformation of the trigeminal nerve
Authors: Mikhail Harty, Muhammad Waqas Saeed Baqai, Jahangir Sajjad, Greg Fellows, Philip J Clamp, Kumar Abhinav
Journal: Front Surg (2023)
Keywords: cavernoma, cavernous malformation, cranial nerve cavernoma, pediatric, trigeminal nerve cavernous malformation
MeSH terms: Case Reports

Background:
Most cavernous malformations (CM) usually involve the parenchyma and rarely occur in cranial nerves. Recurrence of CM associated with cranial nerves after surgical resection has not been previously reported.
Case description:
This paper describes the case of an 11-year-old girl who presented with left otalgia and headache because of a left trigeminal cavernous malformation. She underwent radical resection via a left retrosigmoid approach while sparing the trigeminal nerve. Surveillance imaging at 18 months demonstrated recurrence along the length of the trigeminal nerve into Meckel's cave with significant extension into the middle cerebellar peduncle. Subsequent re-operation via an extended middle fossa approach with anterior petrosectomy enabled complete resection with division of the trigeminal nerve. Postoperatively, she had a transient left facial paresis, and right hemiparesis that resolved within 48 h.
Conclusion:
This case highlights the importance of close postoperative surveillance in CM associated with cranial nerves as recurrence after nerve-sparing resection is possible. Surgical treatment due to the morphology of significant recurrence required the use of a complex skull base approach through a new corridor to achieve optimal clinical outcome.
Rare scrotal chylous effusion: A case report
Authors: Amy Ducharme, Benoît Côté
Journal: SAGE Open Med Case Rep (2024)
Keywords: dermatology, klippel-trenaunay syndrome (kts), scrotal chylous effusion
MeSH terms: Case Reports

Klippel-Trenaunay syndrome is a rare congenital malformation predominantly affecting lower limb. In most cases, it is characterized by a classic triad of cutaneous capillary malformation (port-wine stain), lymphatic and venous abnormalities, in association with variable soft tissue and bone overgrowths. We describe a 48-year-old male presenting on the genitalia several whitish vesicles discharging a milky fluid compatible with chyle. Extensive radiology workup revealed pelvic megalymphatic malformations. Pelvic lymphatic ligations and bleomycin sclerotherapy only allowed a partial improvement. Given the high potential of recurrence, the patient will soon undergo a genetic evaluation for PIK3CA gene mutation and may need further systemic treatment with Sirolimus. As this scrotal chylous effusion in the setting of Klippel-Trenaunay syndrome is rare and highly affects the quality of life, we wanted to raise awareness of this entity and its management.
Breastfeeding outpatient in primary care as an important action to promote breastfeeding: experience report
Authors: Camila Dantas Martins, Carine Vieira Bicalho, Renata Maria Moreira Furlan, Amélia Augusta de Lima Friche, Andréa Rodrigues Motta
Journal: Codas (2024)
MeSH terms: Breast Feeding, Health Promotion, Primary Health Care, Case Reports, Adult, Brazil, Female, Humans, Mothers

This paper describe a successful experience of promotion, prevention and support for breastfeeding developed by professionals from a basic health unit. This is a Breastfeeding Outpatient Clinic, implemented in a health center in Belo Horizonte, in August 2019. The Outpatient Clinic was established based on the perception of the unit's team that many mothers had difficulty breastfeeding, however, due to the work overload of this team, this assistance did not occur in a timely manner, resulting in early weaning. Initially, a meeting was held to sensitize the team on the breastfeeding indicators of the unit. Based on this knowledge, the implementation of a breastfeeding Outpatient clinic was proposed, aimed not only at dyad with difficulties in managing breastfeeding, but at all postpartum women in the area covered by that health center. A flow was created, through which it was established that all postpartum women who brought their children to carry out the heel prick test at the unit would be referred to the Breastfeeding Outpatient Clinic to perform this service. With the improvement of care, the users of the health center started to breastfeed for longer, which reflected in the improvement of the unit's indicators.
Case report: the dissociated response and clinical benefit of primary leiomyosarcoma of the bone treated with penpulimab plus lenvatinib after failed multi-line therapy
Authors: Bin Wang, Yin Han, Jie Liu, Xinyao Zhang, Hongyu Zhuo, Yu Jiang, Yaotiao Deng
Journal: Front Pharmacol (2023)
Keywords: anti-angiogenic therapy, clinical benefit, dissociated response, immunotherapy, leiomyosarcoma
MeSH terms: Case Reports

Leiomyosarcoma occurring in the bone as primary tumor localization is extremely scarce with limited cases described in the literature, accounting for less than 0.7% of all primary bone malignancies. Once distant metastasis occurs, patients have limited treatments and often a somber prognosis, which underscore the need for innovative and effective treatment approaches. The emerging evidence suggests that anti-angiogenic therapy could inhibit angiogenesis and normalize vascular permeability in the tumor microenvironment, which, in turn, would increase immune effector cell infiltration into tumors. Immunotherapy depends on the accumulation and activity of immune effector cells within the tumor microenvironment, and immune responses and vascular normalization seem to be reciprocally regulated. Immunotherapy combined with anti-angiogenic therapy has recently made great progress in the treatment of various types of tumors. However, the effectiveness of the combination treatment in metastatic leiomyosarcoma is undetermined. In this study, we presented a rare case of primary leiomyosarcoma of the bone located in the trochanteric region of the femur, accompanied by multiple distant metastases. After the failure of multi-line therapies including AI regiments as the adjuvant chemotherapy, anlotinib as the first-line therapy, GT regiment as the second-line therapy, and eribulin as the third-line therapy, the patient received combinational therapy with penpulimab plus lenvatinib. The best efficacy for this regimen was a partial response, with a progression-free survival of 8.4 months according to the iRECIST criteria. After a dissociated response was detected without severe toxicities, the patient received local radiotherapy and continued treatment on penpulimab plus lenvatinib and eventually achieved long-term survival benefits with a total of over 60 months of overall survival with good quality of life and ongoing treatment. As our previous retrospective study found that one-third of advanced STS patients could still achieve clinical benefits from rechallenge with multi-targeted tyrosine kinase inhibitors (TKIs), after the failure of previous TKI therapy, this case provided the potential clinical activity of immunotherapy combined with anti-angiogenic TKI rechallenge in metastatic leiomyosarcoma.
Misdirection due to early magnetoencephalographic presentation and management in Rasmussen encephalitis: a case report
Authors: Jinkun Han, Xiaotong Fan, Sichang Chen
Journal: Front Neurol (2023)
Keywords: rasmussen encephalitis, electroencephalogram (eeg), hemisperectomy, magnetoencephalography, pediatric epilepsy
MeSH terms: Case Reports

Rasmussen encephalitis is a rare and unexplained chronic brain hemispheric inflammatory disease. We report a case of epilepsy in which magnetoencephalography showed dipoles localized only in the operculum. Because the patient's clinical presentation and examination findings did not meet the diagnostic criteria for Rasmussen encephalitis, he underwent cortical electroencephalogram (ECoG) record and limited resection surgery. However, the seizures were not relieved after surgery, and imaging findings showed significant features of hemisphere atrophy. This young male patient was eventually diagnosed with Rasmussen encephalitis and the seizures was completely vanished following hemispherectomy. His data can provide a reference for the early identification of this devastating disease.
Case report: A novel WASHC5 variant altering mRNA splicing causes spastic paraplegia in a patient
Authors: Shan-Yu Gao, Yu-Xing Liu, Yi Dong, Liang-Liang Fan, Qi Ding, Lv Liu
Journal: Front Genet (2023)
Keywords: washc5, heterozygote, spastic paraplegia, splicing variant, whole-exome sequencing
MeSH terms: Case Reports

Background: Hereditary spastic paraplegia (HSP) is a progressive upper-motor neurodegenerative disease. Mutations in the WASHC5 gene are associated with autosomal dominant HSP, spastic paraplegia 8 (SPG8). However, due to the small number of reported cases, the exact mechanism remains unclear. Method: We report a Chinese family with HSP. The proband was referred to our hospital due to restless leg syndrome and insomnia. The preliminary clinical diagnosis of the proband was spastic paraplegia. Whole-exome sequencing (WES) and RNA splicing analysis were conducted to evaluate the genetic cause of the disease in this family. Results: A novel splice-altering variant (c.712-2A>G) in the WASHC5 gene was detected and further verified by RNA splicing analysis and Sanger sequencing. Real-time qPCR analysis showed that the expression of genes involved in the Wiskott-Aldrich syndrome protein and SCAR homolog (WASH) complex and endosomal and lysosomal systems was altered due to this variant. Conclusion: A novel heterozygous splice-altering variant (c.712-2A>G) in the WASHC5 gene was detected in a Chinese family with HSP. Our study provided data for genetic counseling to this family and offered evidence that this splicing variant in the WASHC5 gene is significant in causing HSP.
Case report: Successful treatment of intestinal leiomyositis in a dog using adjunctive intravenous immunoglobulin
Authors: Michelle Patrick Olivarez, Jarod Williams, Nutnapong Udomteerasuwat, Sarah Corner, Christopher Byers
Journal: Front Vet Sci (2024)
Keywords: cipo, t-cell activation, cholecystitis, ileus, intestinal leiomyositis, intravenous immunoglobulin (ivig), pseudo-obstruction
MeSH terms: Case Reports

A 10-year-old spayed female Dachshund presented with abdominal pain and generalized severe ileus. An exploratory laparotomy was performed, confirming a severe ileus of undetermined origin. Multiple intestinal biopsy results confirmed acute intestinal leiomyositis. Immunohistochemistry (IHC) stains confirmed a T-cell predominant inflammatory infiltrate. Intravenous immunoglobulin (hIVIG) was administered prior to immunosuppressive therapy. Within 10 days of hIVIG treatment, functional peristaltic activity returned, and symptoms resolved. Long-term management, including the use of mycophenolate, resulted in sustained functional peristaltic recovery. Further studies are needed to explore the potential benefits of hIVIG treatment in the stabilization phase of this commonly fatal, treatment-refractory disease.
A Pair of Compound Heterozygous IARS2 Variants Manifesting West Syndrome and Electrolyte Disorders in a Chinese Patient
Authors: Feiyu Zhou, Gui Yi, Xiangyu Liu, Wenchao Sheng, Jianbo Shu, Dong Li, Chunquan Cai
Journal: Glob Med Genet (2024)
Keywords: cagsss, west syndrome, aminoacyl-trna synthetases
MeSH terms: Case Reports

Background Aminoacyl-tRNA synthetases (ARSs) are evolutionarily conserved enzymes that ensure the accuracy of the translation process. Isoleucyl-tRNA synthetase 2 ( IARS2 ) gene is a type of ARS that encodes mitochondrial isoleucine-tRNA synthetase. Pathogenic variants in the IARS2 gene are associated with mitochondrial disease which involves several patients presenting broad clinical phenotypes. These clinical phenotypes include West syndrome, Leigh syndrome, and Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia syndrome. Only 29 cases have been reported worldwide. The patient manifested recurrent convulsions, and specific clinical manifestations included electrolyte disorders and recurrent infections. Methods Whole-exome sequencing was performed on the child with West syndrome. Three-dimensional structure reconstruction and thermodynamic stability prediction were performed to further analyze the relationship between variation and phenotype. Conclusion This study further expands the clinical spectrum of IARS2 pathogenic variants. The case summaries help raise clinical awareness of IARS2 -associated disease and reduce misdiagnosis. Result In this report, a 13-month-old girl was diagnosed with West syndrome and Leigh syndrome for 7 months. Compound heterozygous variants in the IARS2 gene (NM_018060.4), c.2450G>A (Arg817His) and copy number variation (NC_000001. 11: g. (220267549_220284289) del), were detected by WES. This study further expands the clinical spectrum of IARS2 pathogenic variants. The case summaries help raise clinical awareness of IARS2-associated disease and reduce misdiagnosis.
Pityriasis Rosea With Multiple Herald Patches Resulting in a V-shaped Pattern and a Christmas Tree Distribution
Authors: Kazumasa Oya, Yoshiyuki Ishii, Keisuke Anju, Toshifumi Nomura
Journal: Cureus (2024)
Keywords: christmas-tree distribution, herald patches, human herpesvirus, pityriasis rosea, v-shaped pattern
MeSH terms: Case Reports

Pityriasis rosea (PR), a benign and self-limiting skin disorder, typically manifests as a single initial lesion known as the herald patch. The herald patch is commonly followed by the development of secondary erythematous papules and plaques, aligning with Langer's lines to form a specific distribution pattern, resembling a Christmas tree on the back and a V-shaped pattern on the upper chest. Therefore, diagnosing PR may not be difficult based on its typical clinical presentation. In contrast, cases of atypical PR presentation have been reported, encompassing several differential diagnoses. Here, we present a case with multiple herald patches that needed differentiation from ringworm, syphilis, and erythema annular centrifugum. Subsequently, our case was diagnosed with PR, as the patches formed a V-shaped pattern and a Christmas-tree distribution.