OpenMed/multicare-articles huggingface dataset:
Case report: Assessment of linguistic, cognitive, and sensory profile competencies in a child with ASD and epilepsy
Authors: Alejandro Cano-Villagrasa, Nadia Porcar-Gozalbo, Isabel López-Chicheri García, Miguel López-Zamora
Journal: Front Psychol (2024)
Keywords: asd, childhood, cognition, epilepsy, language, sensory profile
MeSH terms: Case Reports

Introduction:
Autism Spectrum Disorder (ASD) and epilepsy pose significant challenges for early diagnosis during childhood. Current scientific literature does not reflect robust action protocols that allow for a detailed screening of difficulties in this population, especially in areas such as language, cognition, and sensory profile. Additionally, detecting epilepsy before the age of 4 is established as a major current public health challenge in our society.
Objective:
The aim was to evaluate a patient exhibiting symptoms compatible with both ASD and epilepsy, determining the linguistic, cognitive, and sensory profile through a clinical assessment protocol. Furthermore, the objective included establishing a diagnosis of ASD.
Method:
This single-case study (N = 1) presents the evaluation of a 7-year-old patient with suspected ASD, experiencing a decline in linguistic and cognitive competencies following a documented epileptic episode. Evaluation was conducted using instruments such as CELF-5, PROLEC-R, WISC-V, ENFEN, PS-2, ADI-R, and ADOS-2.
Results:
Following assessment of language, cognition, sensory aspects, and behaviors associated with ASD, the diagnosis of ASD was confirmed in the patient, along with impairments in expressive and receptive language, executive functioning, and alterations in the sensory profile.
Conclusion:
Diagnosing ASD and epilepsy, as well as their evaluation, is a complex process requiring interdisciplinary assessment involving a detailed exploration of all functional competencies in individuals with this comorbidity. Future studies should focus on creating and improving existing protocols to develop optimal and effective evaluation strategies for assessing this population during childhood.
Case report: Management of pediatric gigantism caused by the TADopathy, X-linked acrogigantism
Authors: Manuela Caruso, Diego Mazzatenta, Sofia Asioli, Giuseppe Costanza, Giampaolo Trivellin, Martin Franke, Dayana Abboud, Julien Hanson, Véronique Raverot, Patrick Pétrossians, Albert Beckers, Marco Cappa, Adrian F Daly
Journal: Front Endocrinol (Lausanne) (2024)
Keywords: gpr101, gigantism, pituitary tumor, somatostatin analog, topologically associating domain (tad)
MeSH terms: Acromegaly / pathology, Genetic Diseases, X-Linked / genetics, Genetic Diseases, X-Linked / therapy, Gigantism / genetics, Gigantism / metabolism, Gigantism / therapy, Human Growth Hormone, Pituitary Neoplasms / complications, Pituitary Neoplasms / genetics, Pituitary Neoplasms / pathology, Case Reports, Adult, Child, Child, Preschool, Female, Growth Hormone / metabolism, Humans, Growth Hormone, Human Growth Hormone

X-linked acrogigantism (X-LAG) is a rare form of pituitary gigantism that is associated with growth hormone (GH) and prolactin-secreting pituitary adenomas/pituitary neuroendocrine tumors (PitNETs) that develop in infancy. It is caused by a duplication on chromosome Xq26.3 that leads to the misexpression of the gene GPR101, a constitutively active stimulator of pituitary GH and prolactin secretion. GPR101 normally exists within its own topologically associating domain (TAD) and is insulated from surrounding regulatory elements. X-LAG is a TADopathy in which the duplication disrupts a conserved TAD border, leading to a neo-TAD in which ectopic enhancers drive GPR101 over-expression, thus causing gigantism. Here we trace the full diagnostic and therapeutic pathway of a female patient with X-LAG from 4C-seq studies demonstrating the neo-TAD through medical and surgical interventions and detailed tumor histopathology. The complex nature of treating young children with X-LAG is illustrated, including the achievement of hormonal control using a combination of neurosurgery and adult doses of first-generation somatostatin analogs.
Transarterial chemoembolization combined with atezolizumab plus bevacizumab conversion therapy for intermediate-stage hepatocellular carcinoma: a case report and literature review
Authors: Haidong Ai, Ting Gong, Yongbiao Ma, Guixu Ma, Wei Ding, Weibao Ding, Wenjuan Wang, Xuelin Zhao
Journal: Front Immunol (2024)
Keywords: atezolizumab plus bevacizumab, conversion therapy, immunotherapy, intermediate-stage unresectable hepatocellular carcinoma, transarterial chemoembolization
MeSH terms: Antibodies, Monoclonal, Humanized / administration & dosage, Antibodies, Monoclonal, Humanized / therapeutic use, Antineoplastic Combined Chemotherapy Protocols / adverse effects, Antineoplastic Combined Chemotherapy Protocols / therapeutic use, Bevacizumab / administration & dosage, Bevacizumab / therapeutic use, Carcinoma, Hepatocellular / pathology, Carcinoma, Hepatocellular / therapy, Chemoembolization, Therapeutic / methods, Liver Neoplasms / drug therapy, Liver Neoplasms / pathology, Liver Neoplasms / therapy, Case Reports, Review, Combined Modality Therapy, Humans, Male, Middle Aged, Neoplasm Staging, Treatment Outcome, atezolizumab, Bevacizumab, Antibodies, Monoclonal, Humanized

Hepatocellular carcinoma (HCC) ranks as the sixth most common malignancy globally, with the majority of patients presenting at the initial diagnosis with locally advanced or metastatic disease, precluding the opportunity for curative surgical intervention. With the exploration and advancement of locoregional treatments, novel molecular-targeted therapies, anti-angiogenic agents, and immunomodulatory drugs, the management of HCC has seen an increase in objective response rates and prolonged duration of response significantly enhancing the potential for conversion to resectable disease in intermediate and advanced-stage unresectable HCC. Herein, we present a case of Barcelona Clinic Liver Cancer stage B unresectable HCC, where after two courses of treatment with transarterial chemoembolization combined with atezolizumab plus bevacizumab significant tumor reduction was achieved. Per Response Evaluation Criteria in Solid Tumors 1.1, partial response culminated in successful curative surgical resection. No drug-related adverse reactions occurred during hospitalization, and there has been no recurrence during the 11-month postoperative follow-up. For patients with Barcelona Clinic Liver Cancer stage B (intermediate-stage) unresectable HCC, the transarterial chemoembolization combined with atezolizumab plus bevacizumab regimen may offer improved therapeutic outcomes leading to a higher success rate of conversion therapy and, thus, improved survival.
Leptospirosis and Dengue Coinfection-Associated Multi-Organ Dysfunction Syndrome: A Case Report
Authors: Govind Shiddapur, Vutukuru Kalyan Kumar Reddy, Mohith Prakash Kondapalli, Saimounika Adapa, Sonali Agarwal
Journal: Cureus (2024)
Keywords: coinfection, dengue encephalitis (de), dengue fever (df), dengue hemorrhagic fever (dhf), leptospirosis, thrombocytopenia
MeSH terms: Case Reports

Dengue and leptospirosis are frequently discussed separately, with dengue causing rash and leptospirosis causing jaundice. Currently, there are more and more reports of coinfections. The comparable clinical symptoms of both infections make it challenging to distinguish between leptospirosis and dengue. Differentiating between leptospirosis and dengue is crucial since leptospirosis has a more favorable prognosis with early antibiotic therapy, whereas dengue does not have a specific treatment, although early detection is essential for close monitoring and cautious fluid management. Here, we highlight a case of dengue virus and leptospirosis coinfection in a female who presented with acute febrile illness, dyspnea, and altered sensorium, which progressed to multiorgan dysfunction syndrome, involving the neurological, respiratory, hepatic, and hematological systems.
Neoadjuvant ipilimumab plus nivolumab therapy as a potential organ preservation strategy in mucosal melanoma: case report
Authors: Claire V Ong, Wolfram Samlowski
Journal: Front Oncol (2024)
Keywords: checkpoint inhibitors, neoadjuvant therapy, organ preservation, rectal melanoma, sinonasal melanoma
MeSH terms: Case Reports

Mucosal melanoma represents an uncommon melanoma subtype. Wide excision has long represented the standard therapeutic approach. Unfortunately, there is a high relapse rate and mortality. Neoadjuvant therapy with ipilimumab plus nivolumab has shown significant activity in cutaneous melanoma. We present two cases of mucosal melanoma, each with potential regional dissemination, who were treated with neoadjuvant immunotherapy with minimal toxicity. Both patients were closely monitored and achieved radiologic and pathologic complete responses. These patients were able to avoid radical surgery and related functional consequences. Both patients remain recurrence-free with protracted follow-up. The potential usefulness of neoadjuvant immunotherapy as an organ preservation strategy in mucosal melanoma deserves further evaluation in prospective clinical trials.
Unusual oral manifestation of Kindler syndrome: a case report and review of literature
Authors: Rahul Bhandary, Geethu Venugopalan, Padmaraj Hegde
Journal: Front Oral Health (2024)
Keywords: kindler syndrome, integrin dysfunction, oral mucosal diseases, periodontitis, pyogenic granuloma
MeSH terms: Case Reports

Kindler syndrome (KS) is a rare autosomal recessive genodermatosis characterized by congenital acral blistering, that typically presents in infancy and is followed by the development of characteristic poikilodermatous pigmentation and photosensitivity in later life. These clinical manifestations arise from mutations in the FERMT-1 (Fermitin family homologue 1) that encodes kindlin-1, a protein localized to focal adhesions in keratinocytes. Kindlin-1 plays a crucial role in integrin receptor activation, which is essential for cell adhesion and migration. Most KS cases exhibit reduced or absent kindlin-1 expression, leading to defective integrin activation and impaired cell adhesion and migration processes. This impaired cell adhesion ultimately results in the blistering phenotype observed in KS. Oral manifestations of KS are frequently under-reported and misdiagnosed, potentially leading to delayed or incorrect treatment. Furthermore, diabetes mellitus (DM) can further exacerbate the severity of KS due to impaired epidermal barrier function and compromised periodontal health. This co-morbidity creates a synergistic effect. Periodontal infection, often exacerbated by DM through a caspase-3-dependent mechanism, can cause apoptosis of epithelial cells and fibroblasts. This enhanced apoptosis and loss of epithelial barrier function due to DM further hinder tissue repair processes. Consequently, both cutaneous and oral complications associated with KS become more severe in diabetic patients. We report a unique case of a diabetic adolescent with KS presenting with a massive oral pyogenic granuloma and extensive periodontal destruction with a comprehensive review of the literature exploring the current understanding of oral manifestations in KS, emphasizing their under-diagnosis and potential for exacerbation by DM. This case emphasizes the need for increased awareness of oral manifestations in KS, especially in diabetic patients. Early diagnosis and a multidisciplinary approach are crucial for optimal management of cutaneous and oral complications associated with KS.
Spontaneous Iliac Arteriovenous Fistula Leading to High-Output Heart Failure and Cardiac Arrest
Authors: J Maxwell Piraneo, Russell Mordecai, James Espinosa, Alan Lucerna
Journal: Cureus (2024)
Keywords: cardiac arrest, emergency department management, high-output heart failure, iliac aneurysm with rupture, iliac arteriovenous fistula
MeSH terms: Case Reports

We report a case of a 70-year-old male who complained to family members of the sudden onset of groin pain. He then collapsed, and emergency medical services were called. The patient arrived at the ED with a return of spontaneous circulation after cardiac arrest. The patient was diagnosed with a spontaneous iliac arteriovenous (AV) fistula secondary to aneurysmal rupture. This is a rare but potentially life-threatening condition that can result in high-output heart failure and, as described here, cardiac arrest. The differential diagnosis of groin pain is vast, but in the setting of cardiac arrest, vascular causes must be considered. Treatment is most often operative intervention, as was the case with the patient presented. It is predictable that as the population ages and invasive vascular surgeries become more common, the incidence of iliac AV fistulas will increase, resulting in more presentations of high-output heart failure or cardiac arrest in the emergency department.
Arm lymphedema after vascularized lymph node harvest following Covid-19 vaccination
Authors: Tabea Breckwoldt, Pia Niggemann, Lisanne Grünherz, Andrea Weinzierl, Nicole Lindenblatt
Journal: Case Reports Plast Surg Hand Surg (2024)
Keywords: covid- 19, donor site lymphedema, lymph node harvest, lymphedema, vascularized lymph node transfer, mrna vaccination
MeSH terms: Case Reports

There is evidence that COVID-19 vaccines may affect the lymphatic system. We report a case of a 40-year-old female who had undergone lymph node transfer for treating primary lymphedema of the legs. Six months later, the patient developed lymphedema of the right arm closely related to mRNA vaccination against COVID-19.
Case report: accelerated cathodal HD-tDCS over the right dorsolateral prefrontal cortex in hoarding disorder
Authors: Jerome Brunelin, Cécilia Neige, Julien Eche, Filipe Galvao, Rémy Bation, Marine Mondino
Journal: Front Hum Neurosci (2024)
Keywords: dlpfc, anxiety, case report, depression, high-definition transcranial direct current stimulation, hoarding disorder
MeSH terms: Case Reports

Hoarding disorder is an under-recognized condition characterized by the excessive acquisition of possessions and difficulty in disposing of them, which can have dramatic consequences. As hoarding disorder is difficult to treat and associated with high levels of disability in all areas of functioning, there appears to be a critical need to develop novel, tailored therapeutic strategies. Non-invasive brain stimulation techniques hold promise as potential therapeutic interventions for various psychiatric conditions and as a tool to modulate impulsivity when applied over the dorsolateral prefrontal cortex (DLPFC). Therefore, we hypothesized that delivering accelerated cathodal high-definition direct transcranial stimulation (HD-tDCS) over the right DLPFC could be a suitable approach to alleviate symptoms in patients with hoarding disorder. In a case report, we observed beneficial clinical effects on acquisition and depressive symptoms after 15 sessions of three daily 20-min sessions. Accelerated cathodal HD-tDCS over the right DLPFC appears to be a safe and appropriate intervention for patients with hoarding disorder. However, randomized, sham-controlled trials are needed to further validate these encouraging findings.
DORSALIS PEDIS NEUROVASCULAR FLAP, OUR EXPERIENCE
Authors: Sérgio Aparecido do Amaral, Bárbara Letícia Ferreira de Carvalho, Antonio Clodoildo Andrade, Maurício Benedito Ferreira Caetano, Luiz Angelo Vieira, Edie Benedito Caetano
Journal: Acta Ortop Bras (2023)
Keywords: foot, lower extremity, postoperative complications, surgical flaps, upper extremity

Objectives:
Analyze the donor site morbidity of the dorsalis pedis neurovascular flap in traumatic injuries with hand tissue loss.
Material and methods:
The study involved dorsalis pedis neurovascular flaps that were used to reconstruct the hands of eight male patients, between 1983 and 2003, aged between 21 and 53 years (mean 34.6, SD ± 10.5 years). The size of the lesions ranged from 35 to 78 cm2 (mean 53, SD ± 14.4 cm2). Surgical procedures were performed two to 21 days after the injuries had occurred. The patients were followed up for an average of 10.3 years (ranging 8-14, SD ± 2.1 years).
Results:
Regarding the donor site, in one case there was hematoma formation, which was drained; in another case, the skin graft needed to be reassessed. All patients experienced delayed healing, with complete healing from 2 to 12 months after the surgery (mean 4.3, SD ± 3.2 months).
Conclusion:
Despite the advantages of the dorsalis pedis neurovascular flap, we consider that the sequelae in the donor site is cosmetically unacceptable. Nowadays, this procedure is only indicated and justified when associated with the second toe transfer. Level of Evidence IV; Case series .
Sirolimus potentiated angioedema: A case report and review of the literature
Authors: Hadi Beaini, Carol Bjorkman, Kelly Johnson, Faris G Araj
Journal: Open Med (Wars) (2024)
Keywords: adverse drug reactions, angioedema, heart transplantation, sirolimus

Introduction:
In the realm of organ transplantation, particularly heart transplantation, angioedema presents a significant challenge. This clinical condition ranges from minor facial edema to life-threatening swelling of vital structures. Its multifactorial etiology involves various factors and mechanisms, including C1 esterase inhibitor deficiency, food allergen hypersensitivity, and adverse drug reactions, notably involving angiotensin-converting enzyme (ACE) inhibitors and mechanistic target of rapamycin inhibitors (mTOR-Is). We present a rare case of sirolimus potentiated angioedema in a patient with long-standing ACE inhibitor therapy.
Case:
A 52-year-old male with a history of heart transplant developed severe upper and lower lip edema. The patient had been on Lisinopril without any adverse events. However, sirolimus was recently added to his drug regimen. Sirolimus potentiated angioedema was suspected.
Intervention:
Intravenous methylprednisolone, famotidine, and diphenhydramine were initiated, and both lisinopril and sirolimus were discontinued. The patient showed improvement and was discharged with oral antihistamines.
Lessons:
Transplant physicians should be aware of the life-threatening interaction between ACE inhibitors and mTOR-Is like sirolimus. Consideration should be given to switching from an ACE inhibitor to an angiotensin-receptor blocker when initiating patients on mTOR-Is.
Unexpected reaction of "wild-type" gastrointestinal stromal tumor to imatinib: case report and literature review
Authors: Yang He, Mingxu Da, Chuanlei Fan, Pengxian Tao
Journal: Front Oncol (2024)
Keywords: case report, gastrointestinal stromal tumors, imatinib, laparoscopic surgery, neoadjuvant therapy
MeSH terms: Case Reports

Background:
Most of gastrointestinal stromal tumors (GISTs) are driven by mutations in the KIT/PDGFRA genes and can benefit from TKIs treatment. However, a small subset of GIST (10%-15%) are called "wild-type" GISTs due to the lack of these mutations. Theoretically, they would not benefit from TKIs treatment and may even develop resistance. Therefore, this unexpected response may challenge inherent perceptions. Herein, we present a case of giant wild-type GIST exhibiting an unexpected response to imatinib(IM), followed by laparoscopic surgical resection. Subsequently, potential underlying mechanisms are discussed.
Case description:
This case describes a 57-year-old man who presented with abdominal pain for two weeks. CT revealed a massive lesion near the splenic hilum along the greater curvature of the stomach, concurrently involving the splenic hilar vessels and surrounding lymph nodes. Ultrasound-guided fine needle aspiration biopsy confirmed it is a mesenchymal spindle cell tumor,GIST. Due to the enormous volume and local invasion, neoadjuvant chemotherapy was initially considered. After 6 months of IM 400 mg/d, CT imaging revealed marked changes in tumor heterogeneity and a significant reduction in volume. Subsequently, laparoscopic surgical resection was performed. Postoperative pathological examination, immunohistochemistry, and genetic testing collectively confirmed it is a wild-type GIST.The patient recovered well and was discharged on the 6th day after surgery, with continued oral IM(400 mg/d) after discharge. No recurrence was observed during follow-up until the publication of this report.
Conclusion:
This unexpected response suggests that wild-type GISTs may benefit from TKIs treatment, and the potential mechanisms warrant further investigation. Additionally, true wild-type GIST may not be discerned due to current limitations of Next-Generation Sequencing(NGS). Therefore, for advanced/high-risk GIST, additional genetic analysis can be performed after negative NGS results.
Post-burn Cervicofacial Necrotizing Fasciitis With Diabetic Ketoacidosis: A Report of a Case With a Favorable Outcome
Authors: Jasleen Kakkad, Shraddha Jain, Venkat Reddy, Keyur Saboo, Suhit Naseri
Journal: Cureus (2024)
Keywords: abscess, cervicofacial, diabetes type ii, diabetic ketoacidosis (dka), post-burn necrotizing fasciitis (pbnf)
MeSH terms: Case Reports

Post-burn necrotizing fasciitis (PBNF) is a serious and potentially life-threatening infection that occurs after a burn injury. It is characterized by rapid destruction of soft tissue and muscle and is usually caused by a bacterial infection. Diabetic ketoacidosis (DKA) is another serious complication of diabetes, which can occur when the body does not have enough insulin to break down glucose for energy. This causes the body to start breaking down fat for energy instead, leading to various complications. The present study discusses the association between PBNF and DKA in a patient with diabetes. Here is a case of a post-auricular abscess and a precipitated DKA. The abscess was located near the site of the previous burn injury that happened 20 years ago and was believed to have developed as a result of thick scar tissue. The patient was given adequate hydration, intravenous antibiotics, and insulin therapy. However, the abscess continued to grow with increasing insulin requirements and the patient underwent incision and drainage to remove the infected tissue, and an aggressive debridement was carried out. Thus, this case highlights the importance of closely monitoring blood sugar levels in patients with a history of burn injury and diabetes, as well as the potential for infections to precipitate DKA. Timely intervention, including incision and drainage, can lead to successful resolution of symptoms and improved outcomes.
A Case of Spontaneous Autoamputation of Ovary in a 46-Year-Old Woman: An Uncommon Presentation (Painless Ovarian Torsion) with Unique Diagnostic and Therapeutic Challenges
Authors: Shahla Chaichian, Mohanna Khandan, Samaneh Rokhgireh, Sahar Hosseini, Roya Derakhshan
Journal: Case Rep Med (2023)
MeSH terms: Case Reports

This article presents a case of spontaneous autoamputation of ovary in a 46-year-old nulligravid woman with a history of rheumatoid arthritis and hypertension, who presented with secondary amenorrhea and white vaginal discharge. Despite an initial diagnosis of dermoid cyst based on ultrasound findings, subsequent laparoscopic surgery revealed a necrotized oval-shaped mass in the cul-de-sac, which was identified as the right ovary that had undergone torsion and autoamputation. This case highlights the diagnostic and therapeutic challenges associated with this uncommon presentation, which may be easily misdiagnosed. Clinicians should consider spontaneous autoamputation of ovary as a potential differential diagnosis in women presenting with adnexal masses, even if there is no prior history of abdominal pain.