OpenMed/multicare-articles huggingface dataset:
A case report: Pathological complete response to neoadjuvant lorlatinib for Epithelioid inflammatory myofibroblastic sarcoma with EML4-ALK rearrangement
Authors: Yang Zheng, Fanfei Zhao, Yaqian Ren, Yaran Xue, Bing Yan, Chun Huang
Journal: Front Pharmacol (2024)
Keywords: eml4-alk, epithelioid inflammatory myofibroblastic sarcoma, lorlatinib, neoadjuvant treatment, pathological complete response
MeSH terms: Case Reports

Inflammatory myofibroblastic tumor (IMT) is a rare tumor originating from mesenchymal tissue. Epithelioid inflammatory myofibroblastic sarcoma (EIMS) represents a rare and particularly aggressive variant, associated with a worse prognosis. Almost all EIMS cases exhibits activating anaplastic lymphoma kinase (ALK) gene rearrangements, which suggests that EIMS patients may potentially benefit from treatment with ALK tyrosine kinase inhibitors (TKIs). We presented a case involving a 34-year-old woman who was diagnosed with mediastinal EIMS and had a rare echinoderm microtubule-associated protein-like 4 (EML4) -ALK fusion. Following 15 months of neoadjuvant lorlatinib treatment, the patient underwent a complete surgical resection, resulting in a pathological complete response. Given the heightened risk of postoperative recurrence associated with EIMS, the patient's treatment plan included ongoing adjuvant therapy with lorlatinib. As of the present moment, the patient has achieved an overall survival of over 2 years with no observed tumor recurrence. Consequently, the case offers valuable clinical evidence supporting the potential benefits of neoadjuvant lorlatinib treatment for ALK-positive locally mediastinal EIMS patients, with a demonstrated tolerable safety profile.
Case Report: A case report and literature review of hemoglobin variation associated with neonatal cyanosis
Authors: Yanru Chen, Jingwen Lv, Jihong Qian
Journal: Front Pediatr (2024)
Keywords: anemia, hypoxia, neonatal cyanosis, neonatal outcome, whole-exome sequencing
MeSH terms: Case Reports

We will discuss a recent case of unexplained neonatal cyanosis, evaluate its origin, clinical presentation, diagnosis, and treatment, and share with you some of our clinical insights. We report a transient cyanosis in a newborn due to a mutation in the globulin gene (HBG2), as well as diagnosis and treatment. Clinically, the infant was in good overall health, and despite low oxygen saturation, the arterial oxygen partial pressure was always normal. Early respiratory support includes mechanical ventilation, nasal tube oxygen, and eventually stopping oxygen therapy. With the above treatment measures, the blood oxygen saturation of the child always fluctuated at 85%, but the arterial blood oxygen partial pressure was up to 306 mmHg. Further improvement of laboratory tests revealed elevated methemoglobin levels, reticulocytosis, mild anemia, and basically normal on chest x-ray and echocardiography. To clarify the etiology, WES testing was performed. The results showed heterozygous variation in HBG2 gene (c.190C>T. p.H64Y). There is heterozygous variation at this site in the proband father, and no variation at this site in the proband mother. Given the age of the affected infants, we hypothesized that the mutation originated in the gamma peptide chain of the head protein. The baby was discharged from the hospital 10 days after birth, with blood oxygen saturation fluctuating around 90%. The cyanosis disappeared 2 months after discharge, and the blood oxygen saturation level returned to normal.
Rhabdomyolysis Following Prolonged Entrapment on a Fence: A Case Report
Authors: Chukwuemeka Nwaneri, Ahmed M Aboshehata, Adrian R Marsh
Journal: Cureus (2024)
Keywords: acute renal injury, alcohol, entrapment, prolonged immobilization, rhabdomyolysis, rhabdomyolysis and compartment syndrome
MeSH terms: Case Reports

It is well documented that prolonged immobilization and heavy alcohol consumption can independently cause rhabdomyolysis; however, entrapment on a fence following alcohol consumption resulting in rhabdomyolysis without prolonged coma or seizures has not been reported. We report a case of a 25-year-old man who, following alcohol consumption, whilst attempting to climb a fence, became entrapped and desperately had to clinch on the fence with both forearms for over three hours, resulting in rhabdomyolysis. This case report highlights the importance of recognizing the potential complications associated with prolonged immobilization and the subsequent management of rhabdomyolysis.
Double pituitary adenomas: report of two cases and systematic review of the literature
Authors: Yi Zhang, Xinyue Gong, Jun Pu, Jifang Liu, Zhang Ye, Huijuan Zhu, Lin Lu, Hui Pan, Kan Deng, Yong Yao
Journal: Front Endocrinol (Lausanne) (2024)
Keywords: acromegaly, biochemical remission, cushing disease, double pituitary adenomas (dpa), prognostic analysis
MeSH terms: Acromegaly / complications, Adenoma / diagnosis, Cushing Syndrome / diagnosis, Pituitary ACTH Hypersecretion / complications, Pituitary Neoplasms / complications, Pituitary Neoplasms / diagnosis, Pituitary Neoplasms / surgery, Case Reports, Systematic Review, Adult, Female, Humans, Male, Middle Aged

Objective:
Double pituitary adenomas (DPA) are a rare clinical condition, and our knowledge of them is limited. Missing the second lesion leading to incomplete biochemical remission after surgery is an important challenge in DPA management. This study aims to analyze independent prognostic factors in DPA patients and summarize clinical experiences to prevent surgical failure.
Methods:
Two cases of DPA patients with Cushing's disease diagnosed and surgically treated at Peking Union Medical College Hospital are reported. A literature review was performed on the online database Pubmed, and 57 DPA patients from 22 retrieved articles were included. Demographic characteristics, endocrine manifestations, diagnostic methods, tumor size, and immunohistochemical features of 59 patients were analyzed. Binary logistic regression models were used to identify independent prognostic factors affecting postoperative biochemical remission.
Results:
Among 59 DPA patients, the mean ± SD age was 43.64 ± 14.42 years, with 61.02% being female (n = 36). The most common endocrine manifestations were Cushing's syndrome (23/59, 38.98%) and acromegaly (20/59, 33.90%). The most prevalent immunohistochemical types were ACTH-immunopositive (31/118, 26.27%) and GH-immunopositive (31/118, 26.27%) tumors. Microadenomas (<1cm) were the most frequent in terms of tumor size (62/92, 67.39%). The detection rate for double lesions on 3.0T MRI was 50.00% (14/28), which significantly higher than 1.5T MRI (P = 0.034). Univariate analysis revealed that female, Cushing's syndrome and only single lesion detected by surgical exploration were associated with significantly worse prognosis (P<0.05). Multivariate analysis identified double lesion detected by surgical exploration (OR = 0.08, P = 0.003) and contiguous type tumor (OR = 0.06, P = 0.017) as independent protective factors for DPA patients.
Conclusions:
The double lesion detected by surgical exploration is independently associated with a better prognosis for DPA patients. Comprehensive intraoperative exploration are crucial measures to avoid missing causative lesions.
Lemierre's syndrome: A rare complication of acute bacterial pharyngitis
Authors: Pierre Joubert, Muhammed S Moosa
Journal: S Afr J Infect Dis (2024)
Keywords: lemierre’s syndrome, jugular thrombophlebitis, neck mass, sepsis, septic emboli, strep pyogenes, streptococcus, thrombosis
MeSH terms: Case Reports

Lemierre's syndrome is a rare clinical syndrome of septic thrombophlebitis following a bacterial oropharyngeal infection. Lemierre's syndrome can be difficult to recognise and has significant morbidity. We report the case of a young man with Lemierre's syndrome caused by Streptococcus pyogenes, who responded well to 2 weeks of beta-lactam therapy.
Contributions:
This case report summarises the key presenting features of Lemierre's syndrome and provides a brief literature review considering the South African context.
A + AVD for Treatment of Hodgkin Lymphoma Variant of Richter's Transformation
Authors: Benjamin Heyman, Michael Choi, Thomas J Kipps
Journal: Case Rep Hematol (2024)
MeSH terms: Case Reports

Hodgkin lymphoma variant of Richter's transformation (HvRT) is a rare complication for patients with chronic lymphocytic leukemia (CLL), with an overall poor prognosis. We present the first known case series of patients with HvRT treated with the combination of brentuximab vedotin, doxorubicin, vinblastine, and dacarbazine (A + AVD). In our series of 4 patients, two patients treated with A + AVD for HvRT had durable remissions of 40 and 42 months, while two patients had disease progression and ultimately died. Continued investigation into the optimal management for patients with HvRT is still needed.
Two cases of misleading Epstein-Barr virus infection and the role of EBV-DNA
Authors: Luca Pipitò, Alessandra Murabito, Antonio Cascio
Journal: IDCases (2024)
Keywords: 18f-fdg pet/ct, ebv, epstein-barr virus, infectious mononucleosis
MeSH terms: Case Reports

Two atypical cases of infectious mononucleosis in two teenagers with initially negative serology and non-evocative blood examinations are reported. The first patient had recently traveled to Africa, and Epstein-Barr virus negative serology led us to make many extensive investigations. The second patient complained of asthenia for a month, and PET/CT was performed to suspicion of lymphoma. PET scan revealed hypermetabolic lymph nodes in the supradiaphragmatic and subdiaphragmatic stations, along with18F-FDG uptake in the spleen and pharynx, raising more suspicion of lymphoma. Fortunately, Epstein-Barr virus DNA testing was performed and turned positive in both cases, and Epstein-Barr virus serology subsequently became positive. Diagnosing EBV infection can be challenging in rare cases, as EBV-specific serology may be negative in the early stages and confounding factors may be present. Therefore, Epstein-Barr virus DNA testing should be considered early in the diagnostic algorithm to prevent unnecessary investigations in similar cases.
Aspergillus terreus spondylodiscitis following acupuncture and acupotomy in an immunocompetent host: case report and literature review
Authors: Yufei Jin, Xiang Yin
Journal: Front Cell Infect Microbiol (2024)
Keywords: aspergillus terreus, acupotomy, acupuncture, allogeneic fibula ring, spondylodiscitis
MeSH terms: Acupuncture Therapy / adverse effects, Discitis / microbiology, Discitis / therapy, Spinal Fusion / adverse effects, Spinal Fusion / methods, Review, Case Reports, Aspergillus, Humans, Treatment Outcome, Aspergillus terreus

Aspergillus terreus is a fungus responsible for various infections in human beings; however, spine involvement is uncommon. Herein, we report a case of A. terreus spondylodiscitis following acupuncture and acupotomy in an immunocompetent Chinese patient. Admission lumbar magnetic resonance imaging (MRI) revealed infection at the L4/5 level without significant vertebral destruction. After unsuccessful symptomatic and anti-tuberculosis treatments, A. terreus was identified through culture, microscopy of isolate, histological examination and VITEK system. Intravenous voriconazole was then given; however, the patient's spinal condition deteriorated rapidly, resulting in evident destruction of the L4/5 vertebral bodies. Surgeries including L4/5 intervertebral disc debridement, spinal canal decompression, posterior lumbar interbody fusion (PLIF) with allogeneic fibula ring fusion cages, and posterior pedicle screw fixation were then performed. Imaging findings at one-month and six-month follow-up suggested that the patient was successfully treated. This case highlighted two important points: firstly, although acupuncture and acupotomy are generally regarded as safe conservative treatments for pain management, they can still lead to complications such as fungal spinal infection. Therefore, vigilance is necessary when considering these treatments; secondly, PLIF with allogeneic fibula ring fusion cages may be beneficial for A. terreus spondylodiscitis patients with spinal instability.
Male Genital Mutilation in the Name of Ritual Circumcision: A Case Report and Literature Review
Authors: Latif Dar, Alhareth Baarimah, Saeed Alshehrani, Alhassan Alasiri, Mohammad Alassiri, Saleh Al-Ghamdi
Journal: Case Rep Urol (2023)
MeSH terms: Case Reports

Unlike female genital mutilation, the alteration of male genitals has not received much attention. Circumcision is the most common and oldest surgical procedure being performed. When performed by surgeons or well-trained personal the procedure is safe, but most of the times it is being performed by untrained people with no or little medical background. This has led to many complications. Total skin loss is an uncommon but serious complication. There is an ongoing debate regarding the management of this complication. Here, we present a case of total penile skin loss which had resulted from penile mutilation in the name of ritual circumcision.
Hiccup Relief Using Active Prolonged Inspiration
Authors: Stephen K Stacey, Michael S Bassett
Journal: Cureus (2024)
Keywords: acute hiccups, case-series, deep-inspiration breath-hold, hypoxia and hypercapnia, inspiration, intractable hiccups, mechanism and pathway for hiccups, persistent hiccups

Background Hiccups are a common physiologic reflex resulting from intermittent and involuntary spasmodic contraction of the diaphragm and intercostal muscles. While most cases are self-limited, lasting less than 48 hours, rare pathologies may result in prolonged symptoms. Hiccups can be disruptive and uncomfortable, leading many to seek management strategies using common home remedies. Few methods for terminating hiccups have been published in the scientific literature. We report the efficacy of the Hiccup relief using Active Prolonged Inspiration (HAPI) technique, which combines phrenic and vagal nerve stimulation with transient hypercapnia for hiccup relief. Methods Twenty patients with self-limited hiccups and one patient with prolonged hiccups were successful in eliminating hiccups using HAPI. In this method, patients are instructed to inspire maximally. Once at the peak of inspiration, they continue to attempt to inspire with an open glottis for a total of 30 seconds. This is followed by a slow expiration and resumption of normal respiration. Results In all cases, patients reported immediate hiccup relief. Conclusion These findings suggest the HAPI technique is a simple and viable method for hiccup relief. Further studies are needed to validate effectiveness.
Case report: Primary pleural low-grade fibromyxoid sarcoma in a 4-year-old boy with molecular confirmation
Authors: Xiangni He, Wenyi Jing, Xin He, Min Chen, Hongying Zhang
Journal: Front Oncol (2023)
Keywords: fus
MeSH terms: Case Reports

Low-grade fibromyxoid sarcoma (LGFMS) is a rare malignant fibroblastic tumor, principally affecting the deep tissues of the proximal trunk and extremities in young adults. However, primary pleural LGFMS is extremely rare, and only three cases have been reported in the previous English literature without genetic confirmation. Furthermore, the historical pleural LGFMS cases were all adults, and the primary pleural LGFMS in children has never been reported to date. Here, we presented a primary pleural LGFMS in a 4-year-old boy with detailed clinical, pathological, and molecular results. Histologically, the current tumor showed typical alternating collagenous and myxoid areas, containing spindled or oval tumor cells arranged in a whorled and short fascicular pattern. In some areas, the tumor cells exhibited moderate atypia, and mitotic figures were identified but without the identification of giant collagen rosettes. Immunohistochemically, all the neoplastic cells showed strong and diffuse positivity for MUC4. Genetically, FUS gene rearrangement was revealed by fluorescence in-situ hybridization (FISH), and subsequently, next-generation sequencing (NGS) and polymerase chain reaction (PCR) further demonstrated the FUS::CREB3L2 fusion transcript. To the best of our knowledge, this is the first case of primary pleural LGFMS with the identification of FUS gene rearrangement and FUS::CREB3L2 fusion in a 4-year-old child. Our study expands the age range of pleural LGFMS and highlights the combination of morphological, immunohistochemical, and molecular analyses in such challenging cases.
Klippel-Trénaunay syndrome with profound abdominal lymphatic-venous malformation in a three-day-old newborn: a case report and literature review
Authors: Shih Yang Wei, Yu Peng Liu, Dao Chen Lin, Pei Shan Tsai
Journal: Front Pediatr (2024)
Keywords: klippel–trénaunay syndrome, lateral marginal vein, lymphatic-venous malformation, newborn, vein of servelle
MeSH terms: Case Reports

Background:
Klippel-Trénaunay syndrome, a kind of congenital limb-length-discrepancy disorder, is commonly associated with a variety of vascular anomalies.
Case presentation:
We present the case of a three-day-old newborn with a profound abdominal mass lesion during prenatal magnetic resonance imaging (MRI) examination. After delivery, physical examination revealed mild hemihypertrophy of the left lower extremity and red lesions on the left thigh. MRI of the abdomen showed a cyst-like lesion measuring 6.3 cm × 2.7 cm × 5.5 cm in the upper abdomen. Within the mass, there were also some possible calcified spots exhibiting high T1WI signals and low T2WI signals. A computed tomography (CT) scan of the abdomen was consistent with an ill-defined cystic tumor with small calcifications and encasement of mesenteric vessels. A MRI of the left lower extremity showed a tubular structure with a signal void and homogeneous strong enhancement located in the anterior subcutis of the left lower limb. The CT scan confirmed that the tubular structure was consistent with a venous malformation. This patient had features of Klippel-Trénaunay syndrome, including port-wine stains, a profound abdominal mass, and vascular malformations of the left lower extremity.
Conclusions:
In this article, we presented a case of Klippel-Trénaunay syndrome, emphasizing both prenatal and confirmatory postnatal cross-sectional imaging findings. The rare presentation of an abdominal lymphatic-venous formation played a pivotal role as a crucial indicator for an early diagnosis of Klippel-Trénaunay syndrome.
Landau-Kleffner Syndrome, Attention-Deficit/Hyperactivity Disorder (ADHD), and Viral/Autoimmune Encephalitis: Challenges in the Diagnosis and Management of a Six-Year-Old Boy
Authors: Lujain Althagafi, Rahaf Al Fuhayd, Fatimah K Almeathem, Razan A Almeshal, Lma J Al-Amri, Wessal A Mustafa
Journal: Cureus (2024)
Keywords: adhd, asd, autoimmune encephalitis, landau-kleffner syndrome, pediatric neurology, psychiatry
MeSH terms: Case Reports

In this case, we discuss the difficulties and challenges faced when diagnosing and treating a six-year-old boy presenting with abnormal behaviors and difficulty in concentration and inattentiveness, followed by regression of expressive language. These symptoms were then followed by hyperactivity, bouts of anger, and difficulty sleeping. The patient was seen by a psychiatrist, and he was diagnosed with attention-deficit/hyperactivity disorder (ADHD) initially and treated with little to no improvement. He was then recommended to see a neurologist by his psychiatrist and underwent a series of investigations, which included the following: brain MRI with contrast, magnetic resonance (MR) spectroscopy, cerebrospinal fluid (CSF) routine, CSF N-methyl-D-aspartate (NMDA) receptor antibody and glutamate decarboxylase (GAD) antibody analysis, and a CSF meningitis multiplex polymerase chain reaction, thyroid function, ammonia, lactate, creatine kinase, liver function, and metabolic screening of urine organic acids (UOAs), all of which revealed no abnormalities. Vitamin D was low at 38 ng/ml (>50). An electroencephalogram (EEG) done under standard conditions and provocative stimulation was abnormal with bilateral central and frontal discharge and more activity on the right side, revealing a background activity of moderately organized alpha waves (8-13 Hz) and bursts of sharp and slow wave activities that were accentuated by photic stimulation. Polysomnography showed poor sleep efficiency of 84.7%, and rapid eye movement (REM) stage was not reached due to interrupted sleep. He was then diagnosed with epileptic encephalopathy and Landau-Kleffner syndrome (LKS). The patient was prescribed sodium valproate, intravenous immunoglobulin (IVIG), and pulse steroids, with no major improvement, risperidone was added but was poorly tolerated, and the dose tapered off and eventually discontinued. Methylphenidate was the prescribed starting at 5 mg, and the dose was gradually increased to 20 mg/day given separately as 10 mg twice a day. A week later, melatonin 2 mg was added. Three months, later the EEG was repeated and was normal, and sodium valproate was tapered off and eventually discontinued. Later on that year, he was diagnosed with COVID-19 and developed acute myositis as a complication, methylphenidate was stopped, and only sertraline and melatonin were continued. MRI was repeated only this time, showing evidence of viral/autoimmune encephalitis (AIE) sequela, and IV corticosteroids were given alongside IVIG. He was discharged on prednisolone, and a month later, major improvements were seen in all aspects.
Retreatment with immunotherapy in a patient with hepatocellular carcinoma who received immune checkpoint inhibitors after primary curative treatment: a case report
Authors: Tao Wang, Fei Tang, Fenghui Li, Weili Yin, Jing Liang
Journal: Front Oncol (2024)
Keywords: curative treatment, early recurrence, hepatocellular carcinoma, immune checkpoint inhibitors, retreatment
MeSH terms: Case Reports

Hepatocellular carcinoma (HCC) presents a malignant pathology known for its high early recurrence rate following curative treatment, significantly impacting patient prognosis. Currently, effective strategies to mitigate early HCC recurrence remain undetermined. In this report, we document a case of HCC managed with curative radiofrequency ablation (RFA), particularly in a patient facing a high risk of early recurrence due to a substantial tumor size. In an effort to forestall recurrence, immune checkpoint inhibitors (ICIs) were preemptively administered for 6 months post-RFA. Despite this, early recurrence ensued upon ICIs cessation. Traditionally, the approach to advanced HCC has been conservative, yet recent years have seen promising outcomes with ICIs in advanced HCC. However, research on ICIs retreatment is limited. In the short term, this patient experienced widespread metastases post-ICIs discontinuation, yet exhibited prompt regression upon ICIs reinitiation. Notably, this represents the initial documented instance of employing ICIs to forestall recurrence subsequent to curative RFA in HCC. Following ICIs discontinuation, diffuse recurrence with multiple metastases emerged, with successful resolution upon ICIs retreatment.