OpenMed/multicare-articles huggingface dataset:
Comprehensive Multidisciplinary Management of Bilateral Cleft Lip and Palate
Authors: Japneet K Kaiser, Ranjit H Kamble, Karthika Nambiar, Sumukh Nerurkar, Dhwani Suchak
Journal: Cureus (2024)
Keywords: abg, bilateral cleft lip and palate, marryland bridge, multidisciplinary management, permanent dentition
MeSH terms: Case Reports

Cleft lip and palate (CLP) represent a multifaceted congenital deformity encompassing skeletal, dental, and functional discrepancies. This case report presents the management of a 13-year-old female with bilateral CLP, focusing on the challenges associated with permanent dentition and retained deciduous teeth. The patient's history included prior lip and palate repair surgeries, leading to poor aesthetics and functional concerns. A multidisciplinary approach involving orthodontics, oral surgery, and prosthodontics was implemented. Clinical examinations revealed dental abnormalities, oro-nasal fistula, and skeletal discrepancies, necessitating a comprehensive treatment plan. The orthodontic intervention aimed at aligning the dentition, followed by surgical closure of the oro-nasal fistula and alveolar bone grafting (ABG) to facilitate permanent canine eruption. Prosthetic replacement of missing maxillary lateral incisors was accomplished, enhancing aesthetics with minimal invasiveness. Results demonstrated significant improvements in profile, dental alignment, and functional stability. Cephalometric and dental parameter analyses confirmed the corrections and enhancements achieved, affirming the success of the multidisciplinary treatment. This case report emphasizes the importance of a collaborative multidisciplinary approach in effectively addressing the complexities of bilateral CLP in patients with permanent dentition and retained deciduous teeth. The comprehensive treatment strategy rectified dental and skeletal issues and positively impacted the patient's overall well-being and self-confidence.
Clostridium perfringens Bacteraemia following Normal Vaginal Delivery
Authors: Mokhamad Zhaffal, Anastasia Salame, Johnny Awwad
Journal: Case Rep Infect Dis (2024)
MeSH terms: Case Reports

Clostridial uterine infections and bacteraemia are of a rare occurrence, especially in the absence of risk factors. However, when encountered, they can carry significant morbidity and mortality rates. We present a rare case of C. perfringens bacteraemia in the immediate postpartum period of a noncomplicated vaginal delivery. Prompt diagnosis and early initiation of treatment were imperative for ensuring a safe recovery of the patient. Despite the fact that bacteraemia caused by C. perfringens is an infrequent event in the uneventful postpartum phase, maintaining vigilance for the potential occurrence of such an event allows for early detection and timely administration of antibiotics and resuscitative measures.
Assistance of next-generation sequencing for diagnosis of disseminated Bacillus Calmette-Guerin disease with X-SCID in an infant: a case report and literature review
Authors: Haiyang Zhang, Yi Liao, Zhensheng Zhu, Hanmin Liu, Deyuan Li, Sisi Wang
Journal: Front Cell Infect Microbiol (2024)
Keywords: bacillus calmette-guérin, immunodeficiency, next-generation sequencing, vaccine, whole exome sequencing
MeSH terms: Immunologic Deficiency Syndromes / complications, Latent Tuberculosis, Mycobacterium bovis / genetics, Tuberculosis / microbiology, X-Linked Combined Immunodeficiency Diseases / complications, X-Linked Combined Immunodeficiency Diseases / diagnosis, X-Linked Combined Immunodeficiency Diseases / genetics, Review, Case Reports, BCG Vaccine / adverse effects, Child, High-Throughput Nucleotide Sequencing, Humans, Infant, Male, BCG Vaccine

Bacille Calmette-Guérin (BCG) is a live strain of Mycobacterium bovis (M.bovis) for use as an attenuated vaccine to prevent tuberculosis (TB) infection, while it could also lead to an infection in immunodeficient patients. M.bovis could infect patients with immunodeficiency via BCG vaccination. Disseminated BCG disease (BCGosis) is extremely rare and has a high mortality rate. This article presents a case of a 3-month-old patient with disseminated BCG infection who was initially diagnosed with hemophagocytic syndrome (HPS) and eventually found to have X-linked severe combined immunodeficiency (X-SCID). M.bovis and its drug resistance genes were identified by metagenomics next-generation sequencing (mNGS) combined with targeted next-generation sequencing (tNGS) in blood and cerebrospinal fluid. Whole exome sequencing (WES) revealed a pathogenic variant in the common γ-chain gene (IL2RG), confirming X-SCID. Finally, antituberculosis therapy and umbilical cord blood transplantation were given to the patient. He was successfully cured of BCGosis, and his immune function was restored. The mNGS combined with the tNGS provided effective methods for diagnosing rare BCG infections in children. Their combined application significantly improved the sensitivity and specificity of the detection of M.bovis.
Case Report: Severe vitamin D deficiency in a girl with inflammatory myopathy and myonecrosis
Authors: Andrew Kanouse, Benjamin Udoka Nwosu, Parissa Salemi
Journal: Front Pediatr (2024)
Keywords: case report, hypovitaminosis d, myonecrosis, myopathy, vitamin d deficiency
MeSH terms: Case Reports

Inflammatory myopathies are a rare group of disorders that can cause significant disruption in the ability of an individual to adequately perform activities of daily living. In this case report, we present a case of a girl presenting with a substantial compromise of her ambulation with a muscle biopsy consistent with myonecrosis. She was subsequently diagnosed with an inflammatory myopathy and started on glucocorticoid and methotrexate therapy with minimal symptomatic improvement. Further in her clinical course, hypocalcemia and an undetectable 25-hydroxyvitamin D level were detected. Prompt institution of calcium and vitamin D supplementation significantly improved her myopathic condition. While there is evidence in the literature linking vitamin D deficiency with myopathy, there is a lack of data on the association between hypocalcemia and vitamin D deficiency with myonecrosis, which could represent comorbid states in myonecrosis. Therefore, vitamin D status should be established in all patients with myonecrosis, as vitamin D deficiency is easy to diagnose and treat, as exemplified in our patient's case, which shows that such treatment could lead to significant clinical improvement.
Case report: An exceptional responder of low-dose continuous 5-FU in a patient with de-novo stage IV triple-negative breast cancer with liver and bone marrow failure
Authors: Bryan Chan, Jin Sun Lee, Yuan Yuan
Journal: Front Oncol (2024)
Keywords: 5-fu, bone marrow failure, exceptional responder, liver failure, stage iv breast cancer, triple negative
MeSH terms: Case Reports

Continuous low-dose 5-FU was popularized as a therapy for pretreated metastatic breast cancer for the past few decades, spurred by the advent of the electronic infusion pump. Capecitabine, otherwise known by its trade name Xeloda, is a prodrug of 5-fluorouracil (5-FU), which is administered orally in many chemotherapy regimens, and plays a role in metastatic breast cancer treatment refractory to traditional anthracyclines and taxane therapy. In this case presentation, we describe a unique case of refractory de-novo stage IV triple-negative breast cancer presented with right breast primary invasive ductal carcinoma, extensive lymphadenopathy, with biopsy proven bone marrow infiltration, diffuse hepatomegaly, splenomegaly, significant hyperbilirubinemia, and bone marrow failure treated with continuous 5-FU infusion and subsequently oral capecitabine after initial treatment failure with nab-paclitaxel and sacituzimab govitecan. With this case presentation, the authors aim to showcase the versatility of 5-FU and its prodrug in treatment of metastatic triple-negative breast cancer with severe bone marrow and liver involvement while highlighting key physiologic and pharmacologic mechanisms.
A Humeral Osteosarcoma Mimicking Osseous Leiomyosarcoma: A Case Report
Authors: Yi Yan, Victoria Xie, David Perrin, Miao Lu, Laurence Stillwater
Journal: Cureus (2024)
Keywords: conventional osteosarcoma, ct guided biopsy, leiomyosarcoma, osteoid matrix, pathological fracture
MeSH terms: Case Reports

Osteosarcoma stands as one of the primary mesenchymal bone neoplasms commonly encountered in clinical practice. This malignancy often presents with a wide range of distinctive imaging characteristics. Here, we present a unique case wherein a delayed diagnosis of high-grade osteosarcoma occurred due to the absence of an osteoid matrix in the initial imaging studies. A 61-year-old female, initially presented with a left humeral fracture. As the healing of the fractured bone was delayed and the possibility of a pathologic fracture was considered, a CT-guided biopsy was performed. Histological examination of the biopsy sample initially suggested an osseous leiomyosarcoma. The lack of osteoid matrix on radiographs including aggressive intra-medullary mass seen on MRI, combined with the patient's age, appeared consistent with a diagnosis of leiomyosarcoma of bone. As a result, the initial diagnosis was not called into question. Due to neurovascular involvement, this led to a forequarter amputation. However, upon microscopic examination of the amputation specimen, certain areas exhibited features indicative of malignant osteoid deposition, ultimately supporting a revised diagnosis of high-grade osteosarcoma. This case underscores the critical importance of considering the limitations of core biopsy samples, especially when dealing with suspected limb masses associated with pathological fractures. Radiographs and CT scans can prove invaluable in ruling out subtle adjacent osteoid, and ultimately a multidisciplinary approach to the diagnosis of osteosarcoma is imperative to ensure accurate identification.
Minimally invasive esophagectomy with non-invasive ventilation by laryngeal mask-assisted anesthesia for esophageal squamous cell carcinoma: case report
Authors: Weibi Che, Jian Zhong, Jiawei Huang, Huilong Chen, Caihou Feng, Yujie Xie, Haiquan He, Ying Chen, Cui Li, Bomeng Wu, Wei Ding, Wanli Lin
Journal: Front Oncol (2024)
Keywords: case report, esophageal squamous cell carcinoma, minimally invasive esophagectomy, non-intubation, spontaneous ventilation
MeSH terms: Case Reports

Minimally invasive esophagectomy for cancer surgery remains associated with significant morbidity and surgical complications across the globe. Non-intubation video-assisted thoracic surgery (NIVATS) has been successfully employed in lung resection in recent years, but there are few reported cases with regard to the safety and feasibility of this approach in radical esophagectomy for patients with esophageal cancers. We present 4 consecutive cases with esophageal squamous cell carcinoma (ESCC) who received minimally invasive McKeown's esophagectomy under non-intubation general anesthesia from November 2022 to April 2023. All these patients were aged from 55 to 75 years old and were pathologically diagnosed with ESCC. All procedures of McKeown's esophagectomy in these patients were completed with non-invasive ventilation by laryngeal mask-assisted anesthesia. Operation duration ranged from 185 to 395 minutes and the estimated blood loss ranged from 25 to 60 ml in these 4 cases. No severe hypoxia was observed and transient hypercapnia was resolved intraoperatively. None of them was converted to endotracheal intubation with mechanical ventilation or to thoracotomy. The number of retrieved lymph nodes in mediastinum were 21-27 and all patients received R0 surgery with pathological stage as T1bN0M0 to T3N2M0. There was no serious complication (Clavien-Dindo grade III-IV) observed perioperatively and they were all discharged 11-14 days after the surgery with resumption of oral feeding. They are all alive without tumor recurrence at the date of data collection. The safety and efficacy of minimally invasive esophagectomy with non-invasive ventilation by laryngeal mask-assisted anesthesia for patients with ESCC are warranted for explored in a larger cohort study.
Adolescent Patient's Perceptions During Treatment With Class II Elastics
Authors: V Bogdanov, D Ilova, Gr Yordanova
Journal: Case Rep Dent (2024)
Keywords: class ii malocclusion, tmd, elastics, mandibular advancement, orthodontics
MeSH terms: Case Reports

The article presents a case of a 13-year-old adolescent male patient who started orthodontic treatment at the age of 12. Before treatment, he was diagnosed with narrow maxilla, proclination of upper incisors, deep overbite, distal occlusion bilaterally with significant sagittal overjet in frontal area, skeletal Class II, and hypodivergent growth pattern. During treatment, the patient is in his pubertal growth spurt. About 2 months after intermaxillary Class II elastics (1/4 heavy, 6.5 Oz) were applied, he complained of pain during mastication, wide opening of the mouth, and sometimes during protrusive and lateral movements in the right TMJ. The TMJ X-ray examination did not reveal abnormal morphological changes. Occlusion was evaluated by an electromyographic device, Teethan. The result was typical for Class II malocclusion. During the bilateral palpation of the zones of TMJ and opening of the mouth and chewing, the patient reported pain on the right side. There was no clicking in the joint. The elastic wear was stopped, and soon afterwards, the pain disappeared. These complaints point to a possible relationship between orthodontic treatment and TMJ pain. However, the disappearance of complaints after the removal of the Class II elastics points that the temporomandibular joint disorder (TMD) symptoms are reversible and resolved.
Polymyalgia Rheumatica Post-SARS-CoV-2 Infection
Authors: Carolina Duarte-Salazar, José Eugenio Vazquez-Meraz, Lucio Ventura-Ríos, Cristina Hernández-Díaz, José Arellano-Galindo
Journal: Case Reports Immunol (2024)
MeSH terms: Case Reports

There is growing evidence that infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) can lead to dysregulation of the immune system and, consequently, the development of autoimmune phenomena. Here, we describe the case of a 75-year-old woman with rheumatic manifestations characterized by intense musculoskeletal pain and stiffness in the neck and shoulders, with sudden onset and with the inability to raise her arms. The patient was admitted with severe pain located in the neck and shoulders. Previously, she had oropharyngeal pain, severe fatigue, and fever; a real-time polymerase chain reaction test for COVID-19 was positive. Two weeks later, the patient presented localized musculoskeletal pain in the neck and shoulders. Relevant laboratory results included an erythrocyte sedimentation rate of 46 mm/hr and a negative rheumatoid factor test; ultrasound findings with bilateral subacromial-subdeltoid bursitis were observed. A diagnosis of polymyalgia rheumatica (PMR) was initially made according to the EULAR/ACR provisional classification criteria for PMR; however, due to C-reactive protein negativity, the diagnosis was established based on symptoms. Management was with prednisone at the dose of 25 mg/day for 4 weeks and progressive reduction until prednisone suspension. The patient showed complete recovery at 6 months of follow-up. In this case, COVID-19 was implicated in the development of autoimmune and inflammatory rheumatic manifestations. PMR is a rare rheumatic condition that should be included in the wide range of rheumatologic manifestations expressed post-SARS-CoV-2 infection.
Epstein-Barr Virus Driven Hodgkin's Lymphoma after a Short Course of Daratumumab Treatment for Relapsed Multiple Myeloma
Authors: Moeen Mohammadi-Oroujeh, Ansa Mehreen, David L Grinblatt
Journal: Case Rep Hematol (2023)
MeSH terms: Case Reports

In this case, we describe the potential risk of developing an infectious complication leading to a secondary malignancy after a short course of immunotherapy. We report a patient who presented with Epstein-Barr virus (EBV) driven Hodgkin's lymphoma after treatment with a short course of daratumumab along with pomalidomide and dexamethasone for relapsed multiple myeloma. Although there have been limited documented cases of daratumumab treatment leading to EBV reactivation, in patients presenting with infectious symptoms or neutropenia on a daratumumab-based regimen, testing for EBV should not be overlooked.
Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors
Authors: Viola Bianca Serio, Maria Palmieri, Simona Innamorato, Lorenzo Loberti, Chiara Fallerini, Francesca Ariani, Enrica Antolini, Jasmine Covarelli, Massimo Vaghi, Elisa Frullanti, Alessandra Renieri, Anna Maria Pinto
Journal: Front Genet (2023)
Keywords: klippel-trenaunay syndrome, ngs-liquid biopsy, case report, squamous cell carcinoma adenocarcinoma, tailored therapy
MeSH terms: Case Reports

We report a case of Klippel Trenaunay Syndrome that was monitored both clinically and molecularly over a period of 9 years. A somatic mosaic mutation of PIK3CA (p(E545G)) was identified using both cfDNA NGS liquid biopsy and tissue biopsy. At the age of 56, due to intervening clonal mutations in PIK3CA background, she developed a squamous cell carcinoma in the right affected leg which was treated surgically. Nine years later, lung bilateral adenocarcinoma arose on PIK3CA mutated tissues supported by different clonal mutations. One year later, the patient died from metastases led by a new FGFR3 clone unresponsive to standard-of-care, immunotherapy-based. Our results highlight the presence of a molecular hallmark underlying neoplastic transformation that occurs upon an angiodysplastic process and support the view that PIK3CA mutated tissues must be treated as precancerous lesions. Importantly, they remark the effectiveness of combining cfDNA NGS liquid and tissue biopsies to monitor disease evolution as well as to identify aggressive clones targetable by tailored therapy, which is more efficient than conventional protocols.
Case report: BTK inhibitors is effective in type II mixed cryoglobulinemia with wild-type MyD88
Authors: Mingyue Xu, Yunyu Xu, Li Yuan, Da Shang, Ruiying Chen, Shaojun Liu, Yan Li, Aiping Liu, Ruilai Liu, Qian Wang, Tianling Ding, Qionghong Xie, Chuan-Ming Hao
Journal: Front Immunol (2024)
Keywords: btk inhibitors, myd88 mutation, hepatitis b virus, ibrutinib, orelabrutinib, type ii cryoglobulinemia
MeSH terms: Agammaglobulinaemia Tyrosine Kinase / antagonists & inhibitors, Cryoglobulinemia / drug therapy, Cryoglobulinemia / etiology, Myeloid Differentiation Factor 88 / genetics, Protein Kinase Inhibitors / therapeutic use, Case Reports, Adenine / analogs & derivatives, Adenine / therapeutic use, Aged, Female, Humans, Male, Middle Aged, Piperidines / therapeutic use, Treatment Outcome, BTK protein, human, MYD88 protein, human, ibrutinib

This study presents two cases of type II mixed cryoglobulinemia. One case is essential, while the other is presumably associated with hepatitis B virus (HBV) infection. Both patients tested positive for monoclonal IgMκ, but negative for MyD88 mutation. They showed resistance to rituximab combined with a glucosteroid regimen, but responded positively to BTK inhibitors. These cases highlight the remarkable effectiveness of BTK inhibitors in treating refractory type II cryoglobulinemia without MyD88 mutation. The first patient achieved rapid complete remission of nephrotic syndrome within one month of starting ibrutinib, along with a significant reduction in cryoglobulin levels and abnormal clonal cells. The second patient had a rapid disappearance of rash within three days and accelerated wound healing within one week of initiating orelabrutinib, accompanied by a reduction in C-reactive protein. However, there was no reduction in cryoglobulin levels during the 12-month follow-up. These findings suggest varied mechanisms of action of BTK inhibitors in type II cryoglobulinemia through different mechanisms.
Anatomical variant of anteriorly extending mental foramen: A case report
Authors: Ghassan Habash, Khaled R Beshtawi, Soher Nagi Jayash
Journal: Clin Case Rep (2024)
Keywords: anatomical variation, case report, mental foramen, patient safety, superior anterior
MeSH terms: Case Reports

Key clinical message:
By sharing this case, we aim to enhance the understanding of the mental foramen's intricate morphology, ultimately promoting safer and more successful surgical practices in the field of oral and maxillofacial surgery.
Abstract:
In surgical procedures near the mental foramen, preserving this vital structure and its contents is crucial. Surgical treatments, including procedures like implants, orthognathic surgery, and tooth extractions, can potentially lead to injuries of the mental nerve, resulting in sensory disturbances such as numbness or tingling in the lower lip and chin. This case report highlights an uncommon anterior extension of the mental foramen, posing a risk to the patient if unnoticed. Variations in this structure are possible, emphasizing the need for comprehensive three-dimensional radiographic analysis before surgery to ensure patient safety. This report sheds light on the significance of identifying and understanding such variations to enhance the safety and precision of oral and maxillofacial interventions.
Laparoscopic repair of Morgagni hernia by primary closure with extra-abdominal suture: a case report and review of the literature
Authors: Makoto Hasegawa, Yohei Sanmoto, Shunji Kinuta
Journal: Pan Afr Med J (2024)
Keywords: extra-abdominal suture, morgagni hernia, case report, laparoscopic repair, primary closure
MeSH terms: Laparoscopy / methods, Tomography, X-Ray Computed, Case Reports, Review, Abdominal Pain / etiology, Aged, 80 and over, Female, Herniorrhaphy / methods, Humans, Recurrence, Suture Techniques, Sutures, Vomiting / etiology

We report a case of a Morgagni hernia repaired by primary closure with an extra-abdominal suture. Moreover, we reviewed cases of laparoscopically repaired Morgagni hernia, in which the size of the hernia defect was known, to establish a size criterion for mesh utilization. An 87-year-old woman presented to our hospital with right upper abdominal pain and vomiting. She had no history of abdominal surgery or trauma. Chest radiography and computed tomography (CT) revealed a Morgagni hernia, with the stomach and transverse colon herniated into the right chest cavity. Initially, an endoscopic repair was performed for the herniated stomach due to her age, which was successful. However, she had a recurrence 2 days later, prompting us to perform a semi-emergent laparoscopic surgery. Laparoscopic examination revealed a Morgagni defect, with the omentum, transverse colon, and stomach herniated, with the stomach reduced by pneumoperitoneum. Fortunately, the herniated organs could be easily relocated into the abdomen with no adhesions. The hernia defect measured 6 x 3 cm. We performed primary closure with an extra-abdominal suture. No sac resection was performed. The operation lasted 98 min. Oral intake was initiated on postoperative day 1, and the patient was discharged on postoperative day 3 without complications. Chest radiography and CT scans at 1 month postoperatively showed no recurrence, and the patient remained asymptomatic at the 9-month follow-up examination. According to our review findings, primary closure is an efficient method for small hernia defects (rule of thumb: width, <4 cm; length, <7 cm).