OpenMed/multicare-articles huggingface dataset:
Optic Neuritis and Vertebral Osteomyelitis: An Uncommon Presentation of Cat-Scratch Disease
Authors: António Carujo, André Santos Silva, Fábio Videira Santos, Maria João Furtado, António Ludgero Vasconcelos
Journal: Cureus (2024)
Keywords: bartonella, cat-scratch disease, optic neuritis, osteomyelitis, spondylodiscitis
MeSH terms: Case Reports

In cat-scratch disease (CSD), hematogenous spread may result in atypical presentations. Ocular manifestations develop in a minority of patients, with treatment being important in reducing long-term visual sequelae. Bone infection is rare. We present the case of a 52-year-old woman, with close contact with cats, reporting acute unilateral blurred vision and presenting papilledema, optic disc pallor, and peripapillary hemorrhage. Etiologic study of optic neuritis revealed an elevated positive Bartonella IgG; hence, treatment for CSD with doxycycline plus rifampin and corticosteroids was started. Concomitant lumbar pain of increasing intensity warranted magnetic resonance imaging, which revealed L3-L4 vertebral osteomyelitis with spondylodiscitis. Given the temporal link with CSD diagnosis and the significant clinical improvement since its treatment was started, an etiologic link was presumed and antibiotics were prolonged. This case stands out for the presence of distinct atypical CSD manifestations in the same patient. Further studies are needed to determine the optimal treatment for rare manifestations, particularly bone infection.
Case Report: A playful digital-analogical rehabilitative intervention to enhance working memory capacity and executive functions in a pre-school child with autism
Authors: Sabrina Panesi, Marina Dotti, Lucia Ferlino
Journal: Front Psychiatry (2023)
Keywords: autism spectrum disorder, app, case report, executive functions, preschool, rehabilitative intervention, working memory
MeSH terms: Case Reports

Background:
Autism Spectrum Disorder (ASD) is often associated with deficits in Working Memory Capacity (WMC) and Executive Functions (EFs), as early as the first years of life. Research has shown that, even young children with ASD, WMC and EF deficits can be effectively addressed through interventions employing digital and/or analogical tools. Early intervention is important because executive dysfunction can negatively impact on the quality of life, both of children and their families. However, very few studies have been carried out involving intervention with pre-schoolers with ASD. To fill this gap, we developed an intervention that promotes pre-schoolers' WMC and EFs by employing both digital apps and analogical playful activities. This study reports on the feasibility of this intervention, which was carried out in a rehabilitative context.
Methods:
A male pre-schooler diagnosed with ASD was engaged in a total of 17 intervention sessions, all held in a clinical context, over a nine-week period. Outcomes were measured using a battery of pre- and post-treatment tasks focusing on WMC, EFs and receptive language. The clinician who administered the intervention made written observations and noted any improvements in the child's performance emerging from the digital and analogical activities.
Results:
The pre- and post-test scores for the cognitive tasks revealed qualitative improvements in the following cognitive domains: (a) WMC in the language receptive domain; (b) updating in WMC; (c) inhibition, specifically concerning control of motor response; (d) receptive vocabulary. Furthermore, when monitoring the child's performance, the clinician noted improvement in almost all the playful activities. Particularly notable improvements were observed in interaction with the apps, which the child appeared to find very motivating.
Conclusion:
This study supports feasibility of a playful digital-analogical intervention conducted by a clinician in a rehabilitation context to promote cognitive abilities in pre-schoolers with ASD. Further studies are needed to establish whether the intervention's effectiveness can be generalized to a broad sample of children with ASD.
Case Report: Ensartinib for gastric epithelioid inflammatory myofibrosarcoma with STRN-ALK fusion
Authors: XiaoQing Li, JingFan Zheng, XinYi Li, YuYu Chen, Kang Liu, FangChao Li, Zhong Lu
Journal: Front Oncol (2023)
Keywords: strn-alk, anaplastic lymphoma kinase, ensartinib, epithelioid inflammatory myofibroblastic sarcoma, inflammatory myofibroblastoma
MeSH terms: Case Reports

Epithelioid inflammatory myofibroblastic sarcoma (EIMS) is a highly aggressive malignant subtype of inflammatory myofibroblastoma (IMT) associated with poor prognosis. IMT can occur in various parts of the body, most frequently in the lungs, followed by the mesentery, omentum, retroperitoneum, and pelvis, among other areas; however, it is exceptionally rare in the stomach. Anaplastic lymphoma kinase (ALK) is a critical driver of lung cancer development and is currently the "gold standard" target for non-small cell lung cancer treatment. However, there are few reports on the use of ALK inhibitors for EIMS, necessitating further investigation. A male patient with postoperative inflammatory myofibroblastic sarcoma of the stomach received postoperative chemotherapy and had a stable outcome. However, a repeat CT scan performed 11 months later revealed disease progression. The patient later underwent immunohistochemistry testing that indicated ALK positivity, and next-generation sequencing revealed STRN-ALK fusion. Ensartinib 225 mg qd was administered as recommended, and the patient experienced only mild pruritus and no adverse effects such as rash. Eight months after CT follow-up, the patient's subseptal soft tissue nodules had decreased, and the outcome was assessed as a partial response. The findings of this case report introduce a novel strategy for treating ALK-positive EIMS that utilizes ensartinib, a drug with previously demonstrated success in the treatment of ALK-positive cancer.
Case report: Endovascular stent-graft repair of aortic penetrating trauma, literature review, and case report
Authors: Juan Gabriel Bayona, Carlos Eduardo Rey Chaves, Oscar Geovanny Hernández Rodríguez, Vladimir Barón, Ernesto Fajardo, Eduardo Posada
Journal: Front Surg (2023)
Keywords: aortic pseudoaneurysm, endovascular repair, outcomes, penetrating trauma, vascular injury
MeSH terms: Case Reports

Penetrating aortic injuries are infrequent. Its incidence is unknown because most patients die of hemorrhage even before they receive adequate treatment. Aortic wounds generally require conventional thoracotomy/laparotomy repair and are related to high mortality rates. Recently with the advent of endovascular techniques, most authors prefer endovascular management when feasible due to better (still poor) outcomes. The short- and mid-term results of immediate endovascular repair of traumatic aortic injuries are promising, especially when compared with open surgical treatment, indicating that endovascular therapy is preferable in patients with multi-trauma and traumatic ruptures of the thoracic aorta. Here we present the diagnosis and treatment of a 30 years-old male patient with multiple traumatic stab wounds, including anterior aortic laceration with a grade II aortic lesion successfully managed with an endovascular stent graft.
Risankizumab Efficacy in Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis (SAPHO) Remission: A Case Report on Rheumatologic and Dermatologic Disease Manifestations with Literature Review
Authors: Mario Ferraioli, Luigi Fiannacca, Elisabetta Greco, Eneida Cela, Mauro Fatica, Alberto Bergamini, Maria Sole Chimenti
Journal: Case Reports Immunol (2024)
MeSH terms: Case Reports

SAPHO syndrome is a complex disease that encompasses both inflammatory arthritis and/or osteitis and dermatologic manifestations. It is considered a rare disease, in fact, no clinical trials have been conducted on its therapy and management. Therefore, therapeutic approach is based on small case studies. Here, we described the case of a 63-year-old woman affected by SAPHO syndrome, treated with the selective IL-23p19 antagonist, Risankizumab, after unsuccessful therapies with Methotrexate, Infliximab, Adalimumab, and an allergic reaction to Secukinumab. At the beginning of therapy, in November 2022, the patient presented with arthritis in both knees associated with palmar pustulosis and guttate psoriasis on the trunk. DAPSA score was 24, PtGA 80 mm, PASI score 11.1, and BSA 40%. Thereafter, Risankizumab was started at the standard dosage of 150 mg. At week 24 patient achieved clinical remission, DAPSA score was 8, PtGA was 30 mm, PASI was 1, and BSA 2.5. Patient maintained clinical remission state at the subsequent week 52 evaluation. At the same time, the patient did not report any adverse effects. Health-related quality of life was also assessed at the same time points aforementioned, showing significant improvement. In conclusion, this case report wants to point out the efficacy and safety of Risankizumab in SAPHO syndrome, reporting a sustained disease remission through a 12 months long follow-up period. We can consider IL-23p19 targeted therapy as a novel treatment option for SAPHO-with a high efficacy potential-especially on patients that have already been treated with other biologics.
Delayed pericarditis following ethanol ablation of the vein of Marshall in the treatment of atrial fibrillation: a case report
Authors: Hao-Zhen Miao, Lei Tao, Bing-Jie Song, Yong Cao, Qi-Jun Zhang
Journal: Pan Afr Med J (2024)
Keywords: delayed pericarditis, atrial fibrillation, case report, catheter ablation
MeSH terms: Atrial Fibrillation / surgery, Catheter Ablation / adverse effects, Catheter Ablation / methods, Pericarditis, Case Reports, Aged, Coronary Vessels / surgery, Ethanol / adverse effects, Female, Humans, Infusions, Intravenous, Ethanol

In this case report, we will discuss a 74-year-old female who presented with a chief complaint of abdominal pain, bloating, anorexia, and nausea for four days which preceded after catheter ablation and anhydrous ethanol infusion vein of Marshall (VOM) one month prior. She was admitted and treated as a general patient in the general ward. After hospital admission, a pericardiocentesis was guided by B-scan ultrasonography, resulting in the extraction of 20ml of pericardial effusion, followed by catheterization for drainage. The key takeaway in this report is that anhydrous ethanol infusion VOM may not always be without risks. Hence, during the procedure, it is imperative to carefully administer the appropriate volume of anhydrous ethanol into the VOM to prevent vessel damage and associated complications.
BILE DUCT INJURY REPAIR IN A PATIENT WITH SITUS INVERSUS TOTALIS
Authors: José Donizeti Meira-Júnior, Javier Ramos-Aranda, Javier Carrillo-Vidales, Erik Rodrigo Velásquez-Coria, Miguel Angel Mercado, Ismael Dominguez-Rosado
Journal: Arq Bras Cir Dig (2024)
MeSH terms: Cholangitis / complications, Cholangitis / surgery, Cholecystectomy, Laparoscopic / methods, Cholestasis / surgery, Situs Inversus / complications, Situs Inversus / surgery, Case Reports, Adult, Bile Ducts / injuries, Bile Ducts / surgery, Cholecystectomy / methods, Female, Humans, Quality of Life

Background:
Bile duct injury (BDI) causes significant sequelae for the patient in terms of morbidity, mortality, and long-term quality of life, and should be managed in centers with expertise. Anatomical variants may contribute to a higher risk of BDI during cholecystectomy.
Aims:
To report a case of bile duct injury in a patient with situs inversus totalis.
Methods:
A 42-year-old female patient with a previous history of situs inversus totalis and a BDI was initially operated on simultaneously to the lesion ten years ago by a non-specialized surgeon. She was referred to a specialized center due to recurrent episodes of cholangitis and a cholestatic laboratory pattern. Cholangioresonance revealed a severe anastomotic stricture. Due to her young age and recurrent cholangitis, she was submitted to a redo hepaticojejunostomy with the Hepp-Couinaud technique. To the best of our knowledge, this is the first report of BDI repair in a patient with situs inversus totalis.
Results:
The previous hepaticojejunostomy was undone and remade with the Hepp-Couinaud technique high in the hilar plate with a wide opening in the hepatic confluence of the bile ducts towards the left hepatic duct. The previous Roux limb was maintained. Postoperative recovery was uneventful, the drain was removed on the seventh post-operative day, and the patient is now asymptomatic, with normal bilirubin and canalicular enzymes, and no further episodes of cholestasis or cholangitis.
Conclusions:
Anatomical variants may increase the difficulty of both cholecystectomy and BDI repair. BDI repair should be performed in a specialized center by formal hepato-pancreato-biliary surgeons to assure a safe perioperative management and a good long-term outcome.
Large Cell Neuroendocrine Carcinoma Presenting as Adult Intussusception
Authors: John O Agboola, Hagar Attia, Li Zhonghua, Meredith Pittman
Journal: Cureus (2024)
Keywords: adult intussusception, colon resection, colonic adenocarcinoma, gastrointestinal neuroendocrine tumor, ileo-colic intussusception, large cell neuroendocrine, large-cell neuroendocrine carcinoma, right hemicolectomy
MeSH terms: Case Reports

Large cell neuroendocrine carcinoma (LCNEC) is an extremely rare malignant tumor of the colon, presenting with more severe clinical outcomes in comparison to colonic adenocarcinoma. There are very few reported cases in the literature. We hereby add our voice to the incidence of this disease by presenting the first report of a patient with ileocolic intussusception secondary to a large cell neuroendocrine cancer of the cecum. The patient was a 48-year-old woman who presented with acute onset of generalized abdominal pain and leukocytosis. CT scan revealed an ileocecal intussusception and multiple liver metastases suggestive of a malignant bowel lesion. She underwent emergency surgery, and an extended right hemicolectomy with ileo-transverse anastomosis was performed. Histology of the resected lesion revealed large cell neuroendocrine carcinoma of the cecum with invasion through the muscularis propria into peri colorectal tissues. The tumor retained mismatch repair (MMR) proteins with low potential for microsatellite instability (MSI). With a clinical diagnosis of stage IV LCNEC, the patient began platinum doublet chemotherapy with carboplatin and etoposide; however, her disease progressed, and the patient expired within a few months after her diagnosis. Clinical diagnosis of adult intussusception should prompt clinicians to rule out malignant etiology. This patient had a large cell neuroendocrine carcinoma of the colon, a rare and extremely aggressive malignancy. Patients with LCNEC will benefit from a multidisciplinary approach to treatment.
Maternally inherited diabetes and deafness with a variable presentation across three generations within a pedigree, South Africa
Authors: Herbert Makgopa, Tanja Kemp, Surita Meldau, Engela M Honey, Bettina Chale-Matsau
Journal: Afr J Lab Med (2024)
Keywords: diabetes, hearing loss, heteroplasmy, maternally inherited diabetes and deafness, mitochondrial dna
MeSH terms: Case Reports

Introduction:
Maternally inherited diabetes and deafness (MIDD) is caused by the m.3243A>G pathogenic variant in maternally inherited mitochondrial DNA. Diabetes is prevalent in our setting; however, MIDD is rarely diagnosed. This study, undertaken in Pretoria, South Africa, highlights the variable presentation of MIDD in different patients within the same family.
Case presentation:
A 45-year-old man (proband) with hearing impairment was referred to the endocrine unit in July 2015 due to poor glycaemic control (HbA1c = 13%). His clinical and biochemical features were in keeping with MIDD. A genetic study of accessible maternal relatives was pursued. His mother had difficulty hearing and reportedly died from an unspecified cardiovascular cause. Two sisters with diabetes and deafness died of cardiac-related conditions. One nephew had diabetes (HbA1c = 7.7%), hearing loss and tested positive for m.3243A>G. A third sister tested positive for m3243A>G, but aside from bilateral mild hearing loss in higher frequencies, showed no other signs of target organ damage. Her daughter developed end-stage kidney failure necessitating a transplant, while her son had no biochemical abnormalities and was negative for m.3243A>G.
Management and outcome:
A multidisciplinary team managed and screened for complications of the patient and his maternal relatives. Proband died prior to genetic testing.
Conclusion:
Most MIDD patients initially present with symptoms of diabetes only, and it is probable that many cases remain undiagnosed. A high index of suspicion is necessary when encountering a family history of both diabetes and impaired hearing, and screening should be offered to the patient's maternal relatives.
What the study adds:
This study demonstrates the importance of proper assessment when evaluating a patient with diabetes and a family history of hearing loss.
Successful treatment with fludarabine and cyclophosphamide in a VEXAS syndrome patient with associated myelodysplastic syndrome: a case report and systematic review
Authors: Polina Bellman, Jesus D Gonzalez-Lugo, Moazzam Shahzad, Muhammad Kashif Amin, Muhammad Fareed Khalid, Nahid Suleman, Nausheen Ahmed, Anurag K Singh, Abdulraheem Yacoub, Da Zhang, Joseph P McGuirk, Muhammad Umair Mushtaq
Journal: Front Oncol (2024)
Keywords: vexas syndrome, allogeneic hematopoietic stem cell transplantation, fludarabine and cyclophosphamide, myelodysplastic syndrome, outcomes
MeSH terms: Case Reports

Vacuoles, E1 syndrome, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a chronic inflammatory disorder that affects various organ systems. It is associated with hematologic malignancies and is generally refractory to therapies. Allogeneic hematopoietic stem cell transplantation (allo-HSCT) may be considered for selected patients. We report a case wherein systemic and hematological manifestations completely resolved in a patient with VEXAS and associated myelodysplastic syndrome (MDS), following the administration of fludarabine and cyclophosphamide as part of the preparation for allo-HSCT. We conducted a systematic literature review and included 86 patients with VEXAS syndrome and associated MDS. Most cases presented with musculoskeletal involvement (71%) and anemia (72%) with lower-risk MDS. Most patients responded to corticosteroids (CS) but had a recurrence of symptoms with CS taper and were refractory to other immunosuppressive agents. Hypomethylating agents and Janus kinase inhibitors achieved a complete response in some cases. Further research is needed to develop more effective treatment strategies.
The imaging features of ectopic spleen: which modality is more consistent? A cases series report and literature reviews
Authors: Mingyue Xiao, Jiayi Liang, Jie Ren, Rongqin Zheng, Lili Wu
Journal: Front Oncol (2024)
Keywords: contrast-enhanced ultrasonography, contrast-enhanced ultrasound, ectopic spleen, splenosis, wandering spleen
MeSH terms: Case Reports

Ectopic spleen (ES) is a rare condition. It is difficult to diagnose with conventional imaging modalities. In this case series, we presented the imaging features of three misdiagnosed ES cases in our hospital and previously reported cases to compare the consistency of enhancement patterns among different imaging modalities with varied phases. Finally, 22 cases were reviewed. We determined that variable arterial phase enhancement and persistent enhancement throughout the portal and delayed phases are present in contrast-enhanced ultrasound (CEUS) imaging of the ES and found the arterial phase of CEUS had the highest consistency compared with computerized tomography (CT) and magnetic resonance imaging (MRI).
Optic Chiasm Glioma in an Older Adult Patient
Authors: Ulviyya Gasimova, Osasu Adah, Matahi Muradova, Kaleigh Roberts, Sonika Dahiya, Rashmi Verma, Lokesh Rukmangadachar
Journal: Cureus (2024)
Keywords: demyelinating disease mimickers, glioblastoma, glioma, optic chiasm, persistent contrast enhancement
MeSH terms: Case Reports

We present a case of an adult patient experiencing progressive visual loss. An initial presentation was concerning for neuromyelitis optica with optic chiasm involvement. However, persistent contrast enhancement observed in follow-up brain and orbit images raised suspicion for optic tract malignant neoplasm. Histopathological evolution of optic nerve biopsy confirmed the diagnosis of an optic chiasm glioma. The patient was then referred to oncology for chemotherapy.
Effective Technique Using Combined CO2 Laser and Pulsed Dye Laser for Facial Angiofibromas Management in Tuberous Sclerosis
Authors: Giuseppe Lodi, Giovanni Cannarozzo, Irene Fusco, Tiziano Zingoni, Elena Campione, Mario Sannino
Journal: Case Rep Dermatol Med (2024)
MeSH terms: Case Reports

Background:
Facial angiofibromas (FAs) are a dermatological characteristic which are typically linked to tuberous sclerosis (TS).
Aim:
We discuss our experience, highlighting a rare occurrence of multiple FAs in a young patient, successfully treated with ablative CO2 laser combined with PDL therapy.
Methods:
A 23-year-old male patient affected by TS who presents multiple erythematous and colored papules/nodules located on the face, mainly concentrated around nose, perinasal area, cheeks, and chin area, was treated with a combination of ablative CO2 laser and a pulsed dye laser. The patient underwent 3 sessions of combined treatment with CO2 and pulsed dye laser. The intralesional dye laser treatment was administered immediately after the CO2 laser session. The time interval between the combined laser treatments was approximately two months.
Results:
After 4 months from the last laser treatment session, most of the facial erythematous and protruding lesions had improved. Following these procedures, the patient did not experience complications or severe adverse reaction.
Conclusion:
The combined use of the CO2 and dye laser has been proved to be a safe and effective treatment for multiple FAs in the young patient affected by tuberous sclerosis.
Esthetic Crown Lengthening and Minimally Invasive Laminate Veneers to Resolve Altered Passive Eruption
Authors: Cimara Fortes Ferreira, Edival Barreto Magalhães, Barbara Zini
Journal: Case Rep Dent (2024)
MeSH terms: Case Reports

Background:
Altered passive eruption (APE) in the esthetic zone can be an esthetic concern to the patient. To restore adequate crown dimensions, crown lengthening procedures may be necessary.
Methods:
The present case is a report of a patient with an unsatisfied smile due to a complaint of short clinical crowns. The periodontal diagnosis was APE and deviated maxillary anterior midline. A mock-up was made to assist the provider in evaluating the patient's esthetic concerns and acceptance of the proposed treatment plan.
Results:
Esthetic crown lengthening and ultrathin ceramic laminate veneers were used to treat an APE type I subdivision B, resulting in a gingival display reduction and in final PES/WES scores of 10.
Conclusion:
The use of periodontal plastic surgery in conjunction with ultrathin ceramic laminate veneers was mandatory to restore an unesthetic smile. The proposed treatment reduced the gingival display significantly and increased the crown height to length proportions reaching an esthetic smile and patient satisfaction.