OpenMed/multicare-articles huggingface dataset:
Case report: Hereditary spastic paraplegia with a novel homozygous mutation in ZFYVE26
Authors: Ze-Hua Lai, Xiao-Ying Liu, Yuan-Yue Song, Hai-Yan Zhou, Li-Li Zeng
Journal: Front Neurol (2023)
Keywords: spg15, zfyve26, case report, hereditary spastic paraplegia, novel homozygous mutation
MeSH terms: Case Reports

Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases with genetic and clinical heterogeneity characterized by spasticity and weakness of the lower limbs. It includes four genetic inheritance forms: autosomal dominant inheritance (AD), autosomal recessive inheritance (AR), X-linked inheritance, and mitochondrial inheritance. To date, more than 82 gene loci have been found to cause HSP, and SPG15 (ZFYVE26) is one of the most common autosomal recessive hereditary spastic paraplegias (ARHSPs) with a thin corpus callosum (TCC), presents with early cognitive impairment and slowly progressive leg weakness. Here, we reported a homozygous pathogenic variant in ZFYVE26. A 19-year-old Chinese girl was admitted to our hospital presenting with a 2-year progressive bilateral leg spasticity and weakness; early cognitive impairment; corpus callosum dysplasia; chronic neurogenic injury of the medulla oblongata supplied muscles; and bilateral upper and lower limbs on electromyogram (EMG). Based on these clinical and electrophysiological features, HSP was suspected. Exome sequencing of the family was performed by high-throughput sequencing, and an analysis of the patient showed a ZFYVE26 NM_015346: c.7111dupA p.(M2371Nfs*51) homozygous mutation. This case reported a new ZFYVE26 pathogenic variant, which was different from the SPG15 gene mutation reported earlier.
Misdiagnosis of renal pelvic unicentric Castleman disease: a case report
Authors: Dian Fu, Bo Yang, Ming Yang, Zhenyu Xu, Wen Cheng, Zhijia Liu, Liming Zhang, Zhiguo Mao, Cheng Xue
Journal: Front Surg (2023)
Keywords: castleman disease, computerized tomography, diagnosis, imaging, renal tumor
MeSH terms: Case Reports

Castleman disease is a rare heterogeneous lymphoproliferative disorder of unknown etiology. Unicentric Castleman disease (UCD) is more common. UCD can occur at any site where lymphatic tissue exists, most commonly in the mediastinum, neck, and abdominal cavity, etc. in the current study, we reported a 46-year-old woman, who has left low back pain and discomfort. Magnetic resonance imaging (MRI) of the kidneys showed the left renal pelvis was occupied, left hydronephrosis, and the left renal hilum and retroperitoneal lymph nodes were enlarged. Enhanced kidney CT showed that the "pelvic tumor" was moderately enhanced in the bottom part in corticomedullary phase, while in nephrogenic phase, it was unevenly enhanced with a highly enhanced bottom part and weakly enhanced upper part. In excretory phase, reinforcement was decreased. "left renal pelvis tumor" was diagnosed and she underwent surgical treatment with left nephrectomy. However, histopathological examination indicated the UCD. We suggest that for renal pelvic tumors having imaging characteristics of homogeneous soft tissue density and heterogeneous CT enhancement, the hyaline vascular type of UCD could be taken into consideration for differential diagnosis.
A Rare Presentation of Edwards Syndrome in a Three-Month-Old Infant: A Case Report
Authors: Anirudh Kommareddy, Jayant D Vagha, Keta Vagha, Amar Taksande, Chaitanya Kumar Javvaji
Journal: Cureus (2024)
Keywords: edwards syndrome, micrognathia, morbidity, respiratory distress, rocker bottom foot
MeSH terms: Case Reports

Edwards syndrome, also known as trisomy 18, is a rare chromosomal disorder associated with multiple congenital anomalies and high morbidity. This report presents the case of a three-month-old female infant diagnosed with Edwards syndrome, presenting classic phenotypic features, including low-set ears, micrognathia, and a rocker bottom foot. The infant's condition was further complicated by cardiac abnormalities and respiratory distress, necessitating a comprehensive, multidisciplinary approach involving pediatricians, cardiologists, and orthopedic specialists. The diagnostic journey involved addressing challenges related to respiratory distress syndrome, bronchiolitis, and cardiac complications. The management approach underscored the significance of individualized care tailored to the patient's unique needs. Genetic counseling played a pivotal role in providing essential support to the family facing the complexities associated with Edwards syndrome. This case report highlights the intricacies of Edwards syndrome and contributes to the ongoing discourse on refining clinical strategies for enhanced care and compassionate support. Additionally, it emphasizes the need for further research to advance our understanding of this condition and guide future interventions.
Effectiveness of Physiotherapy Exercises on Pain, Range of Motion, and Quality of Life in Patients With Ankylosing Spondylitis: A Case Report
Authors: Vishal U Telrandhe, Swapna Jawade, Rutuja Nimbalkar
Journal: Cureus (2024)
Keywords: ankylosing spondylitis, case report, mckenzie exercise, physical therapy, pilates exercise, rehabilitation
MeSH terms: Case Reports

Ankylosing spondylitis (AS) is an inflammatory disease that affects the entire body. Immune cells positive for human leukocyte antigen B27 are thought to be involved in the pathophysiology. AS is caused by inflammation of the spinal joints, leading to stiffness and reduced spinal movement. This case study describes a 38-year-old man who suffered from hip problems and back pain that worsened over eight years. This study investigates how well physiotherapy exercises can help patients with AS manage their pain, increase their range of motion, and improve their overall quality of life. It examines the effects of a structured physiotherapy intervention on pain levels, functional mobility, and general well-being in a particular group of patients. Quantitative measures are used in the assessment to assess changes in pain intensity, range of motion, and quality of life. These measures offer important new information about the potential advantages of physiotherapy as a supplemental treatment for AS. The results add to the increasing amount of data demonstrating the role of physiotherapy exercises as an additional therapeutic approach for people with AS.
A Rare Case of Pseudomonas aeruginosa-Associated Diarrhea in a Cirrhotic Patient
Authors: Malcolm Chapman, Atul Lodh, Joven Tristeza, Alexander Yang
Journal: Case Reports Hepatol (2024)
MeSH terms: Case Reports

While rare, cases of community-acquired Pseudomonas aeruginosa (PsA) enterocolitis have been reported and are associated with recent antibiotic use and immunocompromised hosts. Here we present a 29-year-old immunocompetent female with newly diagnosed alcoholic cirrhosis that presents with bloody diarrhea and was found to have PsA in her stool culture. This case is unique as our patient does not have a history of recent antibiotic use or prior history of immunosuppression. However, immune dysfunction in cirrhosis results in defects in both innate and acquired immunity, thus predisposing our patient to PsA-associated diarrhea. Overall, this case showcases that, while considered immunocompetent, cirrhotic patients are predisposed to rare infections such as PsA in the community due to defects in their immune system.
Anesthesia strategies for elderly patients with craniocerebral injury due to foreign-body penetration in the plateau region: a case report
Authors: Yongtao Sun, Yang Liu, Peng Liu, Min Zhang, Mengjie Liu, Yuelan Wang
Journal: Front Med (Lausanne) (2024)
Keywords: anesthesia strategies, craniocerebral injury, elderly, foreign-body penetration, long-term, plateau area
MeSH terms: Case Reports

Background:
The administration of anesthesia for elderly individuals who are critically ill, suffering from severe craniocerebral injuries, and living in plateau regions presents a rare, intricate, and high-risk challenge. This case study outlines the specific anesthesia management protocols necessary for plateau-dwelling patients with significant craniocerebral damage undergoing prolonged invasive procedures.
Case report:
A 76-year-old male patient had a 26-year history of foreign-body penetration of the skull and had experienced local purulent discharge and pain for the previous 20 days. The diagnoses included right hypoplasia, a foreign body in the skull with an infection, hypokalemia, hypoproteinemia, pulmonary fibrous foci, and bilateral pleural effusion. For almost 6 months, the patient suffered from recurring headaches, blurred vision, and sluggish bodily movement. The patient had a poor diet, poor sleep quality, normal urination, and no noticeable weight loss since the onset of the illness. The right anterior ear had a 2 cm skin abscess with yellow pus and a black metal foreign body tip. The left eyelid was red and swollen, and the left conjunctiva was hyperemic; the right eyelid showed no abnormalities, and both pupils were wide and round, with light and adjustment reflexes and no cyanosis on the lips. Skull development was normal. No dry or moist rales were audible in either lung. The heart rhythm was regular, and the heart rate was 50 bpm. Chest CT revealed left lung calcification foci, bilateral pleural effusion, and fiber foci in the lower lobes of both lungs.
Conclusion:
Furthermore, the patient in question was of advanced age and had a complex medical history, including prolonged exposure to high altitudes and previous instances of severe craniocerebral trauma, among other uncommon pathophysiological characteristics. In particular, the patient also underwent surgical interventions at both high and low altitudes, adding to the complexity of their case. To ensure patient safety, close multidisciplinary collaboration, the development of a precise surgical plan, and the implementation of a suitable perioperative anesthetic management strategy are imperative.
Outcomes of non-small cell lung cancer patients with non-V600E BRAF mutations: a series of case reports and literature review
Authors: Raluca Lazar, Cathie Fischbach, Roland Schott, Laura Somme
Journal: Front Oncol (2024)
Keywords: braf non-v600e mutations, nsclc, pd-l1, immunotherapy, targeted therapy
MeSH terms: Case Reports

Non-small cell lung cancer (NSCLC) is the most prevalent form of lung cancer, accounting for approximately 85% of cases of lung cancer. The standard first-line therapy for patients without oncogenic driver metastatic NSCLC is anti PD-L1 immune checkpoint inhibition (ICI) with platinum-based chemotherapy. Approximately 4% of NSCLC patients harbor BRAF mutations; the V600E mutation is the most common. Non-V600 mutations is an heterogeneous population and account for approximately 50% of BRAF-mutated NSCLC. BRAF mutations are classified into 3 functional classes based on their kinase activity and their signaling mechanism. The European Medicines Agency and the United States Food and Drug Administration have approved dabrafenib, an anti-BRAF tyrosine kinase inhibitor (TKI), in combination with trametinib, an anti-MEK TKI, for the treatment of patients with BRAF V600E-mutated metastatic NSCLC. The use of targeted therapies in NSCLC with BRAF non-V600E mutations remains controversial. There is a lack of guidelines regarding therapeutic options in non-V600E BRAF-mutated NSCLC. Herein, we presented 3 cases of NSCLC with BRAF non-V600E mutations and reviewed the current state of therapies for this particular population of lung cancer.
Endodontic Treatment of Two Calcified Mandibular Central Incisors: A Case Report
Authors: He Liu, Ahmed Hieawy, Ya Shen
Journal: Cureus (2024)
Keywords: calcified canal, cone-beam computed tomography, dental operating microscope, endodontic treatment, mandibular central incisor
MeSH terms: Case Reports

Treating calcified root canals presents significant challenges, as incorrect approaches can result in treatment failure or lead to complications. The necessity for advanced diagnostic and therapeutic tools is often paramount in these situations. This case report demonstrates the successful treatment of two calcified mandibular central incisors, followed up for a period of up to six years. It emphasizes the effectiveness of integrating cone-beam computed tomography, dental operating microscopes, and ultrasonic instruments in the treatment of such challenging cases.
Osteochondroma of Distal Femur Managed With Complete Excision: A Case Report
Authors: Ousama Jelti, Oussama El Alaoui, Adnane Lachkar, Najib Abdeljaouad, Hicham Yacoubi
Journal: Cureus (2024)
Keywords: distal femur, exostosis, mri, osteochondroma, surgery
MeSH terms: Case Reports

Osteochondromas are benign bone tumors that usually occur between the ages of 10 and 30, with no marked gender preference. These lesions result from the separation of the epiphyseal growth plate and are categorized as growth plate development abnormalities rather than true neoplasms. It is important to note that long-term solitary osteochondromas can evolve into osteosarcomas, with chondrosarcoma being the most common among them. However, the risk of recurrence is considerably reduced if the tumor is completely resected from its original site, with no residual perichondrium or cartilage cap left in place. In this context, a 29-year-old man with osteochondroma in the distal femur was successfully treated with complete resection, showing a favorable evolution.
Workflows and Laboratory Cost for Removable Digital Complete Denture: Two Case Reports with and without Existing Denture
Authors: Siraphob Techapiroontong, Nareudee Limpuangthip, Wisarut Prawatvatchara, Duangporn Yongyosrungrueng, Issarapong Kaewkamnerdpong
Journal: Case Rep Dent (2024)
MeSH terms: Case Reports

The integration of digital dentistry in the fabrication of complete dentures (CDs) has been facilitated through the use of intraoral scanners and computer-aided design and manufacturing (CAD/CAM). However, the financial implications associated with the fabrication of digital CDs have been rarely explored. This study is aimed at presenting two different approaches to CD fabrication, combining conventional with digital techniques, and comparing the total cost of fabrication. The first case involved a 70-year-old woman without existing denture, while the second case involved a 97-year-old woman with inadequate retention and stability of CDs in both jaws. In the first patient, who lacked information about her old denture, the first approach was employed, utilizing milling technology for denture processing. The second patient, who already had an existing denture, underwent the second approach, which employed printing technology for denture processing. CAD/CAM replicas of the existing dentures were used for the final impression, bite registration, and as a guide for tooth arrangement. Two digital protocols and laboratory cost in CD fabrication have been proposed. The relatively high cost of CAD/CAM CDs restricts the widespread of digital technology in CD fabrication.
Cochlear Implantation with a Combined Approach: A Case Report
Authors: Reza Jahangiri, Seyed Basir Hashemi, Elahe Kohan, Amirhossein Babaei
Journal: Iran J Otorhinolaryngol (2024)
Keywords: cochlear implantation, cochlear implants, otitis media, otitis media with effusion, sensorineural hearing loss
MeSH terms: Case Reports

Introduction:
Ear symptoms of granulomatosis with polyangiitis can range from ear fullness and otalgia to conductive or sensory neural hearing loss and sudden deafness. Cochlear implantation in these patients faces two challenges: access to the round window and control of mastoid and middle ear inflammation. The combined approach in cochlear implantation is a classic trans-facial recess approach facilitated by a trans-canal view.
Case report:
In this case report, we present the "combined approach" in a 20-year-old lady with granulomatosis with polyangiitis who underwent cochlear implantation successfully using the combined approach.
Conclusion:
Post-operative results suggest that the "combine approach" seems to be a safe, easy, and fast cochlear implantation technique for chronic otitis media with an atelectatic middle ear and retracted tympanic membrane or narrow facial recess space. It is a single-stage surgery that has no need for the obliteration of the ear and has less morbidity.
Hematometra: A Rare Case of Pelvic Pain in Females Identified with Point of Care Ultrasound
Authors: Andrew R Helber, Margaret Provencher, Christy Moore, Nova Panebianco
Journal: POCUS J (2024)
Keywords: hematometra, point of care ultrasound, ultrasound case presentation
MeSH terms: Case Reports

The differential diagnosis for abdominal or pelvic pain in women of child-bearing age that present to the emergency department is broad. A rare cause of abdominal and pelvic pain is hematometra, or a collection of blood products within the uterus. While blood is normally expelled through menses, this process is disrupted in some patients due to congenital or acquired abnormalities. This can lead to progressive uterine distension and pain, which may ultimately require medical or surgical intervention. Hematometra is rare, but is a serious condition that can be diagnosed easily at bedside using point of care ultrasound.
Mycobacterium marinum hand infection: a case report and literature review
Authors: Chunping Liu, Jiahao Hao, Minghui Song, Jiaqing Ye, Cuiying Zheng, Yinqi Huang, Zhongjun Feng, Ruiping Jiang, Yan Shi, Weili Gao, Huifen Zuo, Zhenjun Zhao, Lijie Zhang
Journal: Front Med (Lausanne) (2024)
Keywords: mycobacterium marinum, acid-fast stain, nontuberculous mycobacteria, opportunistic pathogen, skin infection
MeSH terms: Case Reports

Mycobacterium marinum, a photochromogenic, slow-growing mycobacterium, thrives in both marine and freshwater environments. Optimal growth occurs between 25°C and 35°C, with survival becoming challenging above 37°C. Typically, M. marinum enters the body via skin abrasions, often leading to infections of the upper extremities. Diagnosis of M. marinum infection is frequently challenging and delayed due to the difficult pathogen identification. At present, a standardized treatment protocol has yet to be established. Presented herein is a case study detailing an infection of the right hand's middle finger caused by M. marinum. Notably, his occupation as a chef, handling fish and seafood post-injury, was a significant factor. Histological examination of the skin biopsy and positive acid-fast staining were consistent with a diagnosis of mycobacterial infection. Pathological examination confirmed a skin infection with infectious granuloma, and tissue section acid-fast staining revealed acid-fast bacill. Cultures on Columbia blood agar yielded rough, flattened, yellow-fleshy colonies after 10 days, which was identified as M. marinum through 16S rRNA sequencing. The patient responded well to a 3-month regimen of oral moxifloxacin (0.4 qd) and linezolid (0.6 qd), resulting in rash resolution and pain relief, with no recurrence observed for 1-year follow-up. This report presents the first documented acid-fast staining images of M. marinum tissue sections and colony morphology photographs, offering an in-depth view of M. marinum's morphological characteristics. It aims to enhance awareness of M. marinum infections, underscore the necessity for clinicians to delve into patient histories, and provide a review of the clinical manifestations, diagnostic techniques, therapeutic approaches, and pathogenic mechanisms associated with M. marinum.
Angiomyolipoma during pregnancy: A forgotten risk factor for rupture and massive haemorrhage - A case report
Authors: Khairil Amir Sayuti, Saiful Amri Mat Rasid, Mohd Shafie Abdullah, Siti Jusna Muhammad
Journal: Malays Fam Physician (2024)
Keywords: angiomyolipoma, pregnancy, retroperitoneal haemorrhage, rupture
MeSH terms: Case Reports

Benign renal lesions are relatively rare. Angiomyolipoma (AML) is the most commonly encountered benign renal lesion. One of the complications of AML is rupture, which results in retroperitoneal haemorrhage with a mortality rate of up to 20%. Pregnancy poses a major risk for the rupture of AML. This is attributed to its hormonal effect, which causes the tumour to grow rapidly during pregnancy. The possibility of AML rupture should be considered when encountering pregnant patients with hypovolemic shock but with normal initial obstetric ultrasound findings. We present a case of a pregnant patient who was admitted with hypovolemic shock and CT scan confirmed rupture of AML.
Goodhill syndrome: a case report
Authors: Anouar Ben Ameur El Youbi, Meryeme Alami, Najib Benmansour, Mohamed Noureddine El Alami El Amine
Journal: Pan Afr Med J (2024)
Keywords: goodhill syndrome, case report, fixed malleus head, middle ear, otology
MeSH terms: Hearing Loss, Conductive / diagnosis, Hearing Loss, Conductive / etiology, Tomography, X-Ray Computed, Case Reports, Adult, Female, Humans, Malleus / surgery, Syndrome, Temporal Bone / abnormalities, Temporal Bone / diagnostic imaging, Temporal Bone / pathology

Conductive hearing loss with a normal tympanic membrane is a common reason for otolaryngology consultation, with otospongiosis being the most frequent cause and House syndrome being extremely rare, requiring systematic investigation. We report the case of a 31-year-old woman who presented with conductive hearing loss with a normal tympanic membrane. A temporal bone computed tomography (CT) scan confirmed a House-Goodhill syndrome due to fixation of the malleus head. Surgical intervention was considered to remove the attic bone synostosis with the malleus head, resulting in a significant clinical improvement. The Goodhill syndrome is a rare condition that causes hearing loss with a normal eardrum. The surgery can highly improve the hearing function.
Coronary Artery Aneurysms and Acute Coronary Syndrome: An Interventionalist's Dilemma
Authors: Nauman Khalid, Sundeep Kumar, Preetham Muskula, Haris Muhammad, Tarek Helmy
Journal: Methodist Debakey Cardiovasc J (2024)
Keywords: acute coronary syndrome (acs), coronary artery aneurysm (caa), fusiform aneurysms, percutaneous coronary intervention (pci), saccular aneurysms
MeSH terms: Acute Coronary Syndrome / diagnostic imaging, Acute Coronary Syndrome / etiology, Acute Coronary Syndrome / therapy, Coronary Aneurysm / diagnostic imaging, Coronary Aneurysm / therapy, Coronary Angiography, Case Reports, Aged, Computed Tomography Angiography, Embolization, Therapeutic, Female, Humans, Male, Middle Aged, Percutaneous Coronary Intervention / instrumentation, Predictive Value of Tests, Risk Factors, Stents, Treatment Outcome, Ultrasonography, Interventional

We report three cases of coronary artery aneurysm (CAA) in adults who presented with acute coronary syndrome. Two of these patients did not have traditional coronary artery disease risk factors. Management of CAA poses a significant challenge to interventionalists. We discuss the etiologic mechanisms, risk factors, pathophysiology, and diagnosis using angiography, intravascular ultrasound, and coronary computed tomography. We also highlight management options, including medical therapy and catheter-based interventions such as stenting, coil embolization, stent-assisted coil embolization, and surgical exclusion.
Multiple myeloma in a young female presenting as an aggressive skull-base tumour
Authors: Ursula Lesar, Leon Janse van Rensburg, Siobhan Oelofsen, Kevin McCree, Christelle Ackerman, Razaan Davis
Journal: SA J Radiol (2024)
Keywords: atypical, epistaxis, head and neck, multiple myeloma, plasmacytoma, skull-base, young adult
MeSH terms: Case Reports

Plasma cell neoplasia has a wide presentation of disease (localised or systemic) according to the International Myeloma Working Group. Radiological imaging identifies plasmacytomas as solitary lesions or part of multiple myeloma. We present a rare case of a 21-year-old female who presented with a skull-base tumour.
Contribution:
A head and neck plasmacytoma with further lytic bone lesions was confirmed on imaging. This article presents and discusses the clinical, CT, MRI, positron emission tomography (PET)-CT, histology and laboratory findings.