OpenMed/multicare-articles huggingface dataset:
Case report: Complex arterial findings in vascular ehlers-danlos syndrome with a novel COL3A1 variant and death at young age
Authors: Jacopo Taurino, Emanuele Micaglio, Annalisa Russo Raucci, Monica Zanussi, Massimo Chessa, Nathasha Samali Udugampolage, Paola Carrera, Carlo Pappone, Alessandro Pini
Journal: Front Cardiovasc Med (2023)
Keywords: col3a1, aneurysm - dissecting, atypical onset, pneumothorax, vascular ehlers danlos syndrome
MeSH terms: Case Reports

Vascular Ehlers-Danlos syndrome (vEDS) is a genetic disease caused by a pathogenic mutation in the COL3A1 gene. Despite its severe course, the rarity and extreme clinical variability of the disease can pose significant obstacles to a timely diagnosis. Early and accurate diagnosis may lead to improved patient outcomes by providing access to targeted pharmacological treatments like celiprolol and enhancing the management of vEDS-related complications. Herein, we report a patient harboring a novel de novo COL3A1 missense variant, in which the diagnosis was only possible belatedly due to delayed referral for genetic evaluation. The patient developed pulmonary complications, aneurysms, and vascular malformations, and died at the age of 26 years due to massive pulmonary bleeding.
Imperforate Hymen - a rare cause of acute abdominal pain and tenesmus: case report and review of the literature
Authors: Aruyaru Stanley Mwenda
Journal: Pan Afr Med J (2013)
Keywords: imperforate hymen, amenorrhea, pubertal girls, urine retention
MeSH terms: Hematocolpos / etiology, Hematometra / etiology, Hymen / abnormalities, Case Reports, Review, Abdominal Pain / etiology, Adolescent, Amenorrhea / etiology, Female, Humans, Hymen / surgery

Imperforate hymen is a rare condition that presents with amenorrhea, cyclical abdominal pains and urine retention among pubertal girls. A 14 year old girl with imperforate hymen underwent hymenotomy for hematocolpometra, having presented with abdominal pains and tenesmus.
Hermansky-pudlak syndrome: a case report
Authors: Ilhami Berber, Mehmet Ali Erkurt, Irfan Kuku, Emin Kaya, Mustafa Koroglu, Ilknur Nizam, Mehmet Gul, Recep Bentli
Journal: Case Rep Hematol (2014)

Objective. The aim of this paper is to report the case of a patient diagnosed with Hermansky-Pudlak syndrome, as a result of bleeding diathesis. Clinical Presentation and Intervention. A 23-year-old male presented with recurrent epistaxis and, upon physical examination, was found to be remarkable for albinism and suborbital ecchymosis. The absence of dense bodies in the platelets was demonstrated using electron microscopy. This patient was (slowly) administered one unit of a platelet suspension, and his bleeding decreased considerably. Conclusion. This case shows that Hermansky-Pudlak syndrome should be considered in the differential diagnosis of a patient presenting with bleeding diathesis, when the clinical presentation also includes oculocutaneous albinism and visual problems.
Longitudinal 18F-FDG PET and MRI Reveal Evolving Imaging Pathology That Corresponds to Disease Progression in a Patient With ALS-FTD
Authors: Venkateswaran Rajagopalan, Erik P Pioro
Journal: Front Neurol (2019)
Keywords: als-ftd, mri, pet, aphasia, cortical area, cortical thickness
MeSH terms: Case Reports

Single time point positron emission tomography (PET) studies of patients with amyotrophic lateral sclerosis and frontotemporal dementia (ALS-FTD), have demonstrated hypometabolism or hypermetabolism in certain brain regions. To determine whether longitudinal (at baseline and 20.4 months later) PET and magnetic resonance imaging (MRI) reveal evolving brain imaging pathology corresponding to clinical progression in a patient with ALS-FTD, cerebral glucose metabolic rate, cortical thickness (CT) and cortical area (CA) were obtained and symmetric percent change (SPC) for each calculated. The patient had worsening symptoms and signs of bulbar-onset upper motor neuron-predominant ALS as well as language and behavioral dysfunction. At baseline, minimally decreased ALSFRS-R (42/48) reflecting bulbar dysfunction was observed, along with language and executive function difficulties. At follow-up, bulbar and limb function rapidly declined as revealed by lower ALSFRS-R (27/48) and worsening language and cognitive function. PET revealed either hyper- and hypo-metabolic changes in several brain regions, especially in the left hemisphere. Marked clinical decline was accompanied by worsening cerebral and subcortical hyper and hypo-metabolism along with CT changes in regions known to degenerate in the primary progressive aphasia (PPA) form of ALS-FTD. Our case report demonstrates the progressive functional and structural neuroimaging abnormalities underlying clinical motor and neurocognitive deficits evolving in a patient with bulbar-onset ALS-FTD. Correlating neurological and neurocognitive decline with PET and MRI neuroimaging measures can provide better insights into pathophysiological mechanisms of ALS and ALS-FTD.
A Rare Case of a Transgender Female With Breast Implant-Associated Anaplastic Large Cell Lymphoma Treated With Radiotherapy and a Review of the Literature
Authors: Naba Ali, Kunal Sindhu, Richard L Bakst
Journal: J Investig Med High Impact Case Rep (2019)
Keywords: bia-alcl, radiotherapy, transgender
MeSH terms: Breast Implants / adverse effects, Breast Neoplasms / ethnology, Lymphoma, Large-Cell, Anaplastic / etiology, Transgender Persons, Case Reports, Review, Antineoplastic Combined Chemotherapy Protocols, Breast Neoplasms / etiology, Breast Neoplasms / therapy, Device Removal, Female, Humans, Lymph Nodes / pathology, Lymphoma, Large-Cell, Anaplastic / therapy, Male, Mammaplasty, Middle Aged, Neoplasm Staging, Radiotherapy

We are reporting a case of a 54-year-old transgender female with a history of breast augmentation with bilateral silicone implants. Seventeen years later, she presented with an enlarging right breast mass. Pathology confirmed breast implant-associated anaplastic large cell lymphoma (Ann Arbor Stage IIE, TNM Stage III BIA-ALCL). The patient underwent bilateral capsulectomy, sentinel lymph node biopsy with adjuvant CHOP (cyclophosphamide, doxorubicin, vincristine, and prednisone) chemotherapy, and radiotherapy to the right chest, axilla, and supraclavicular lymph nodes. BIA-ALCL is a rare entity, especially in transgender females. We report this case and a review of the literature in this report.
Crossed Cerebellar Diaschisis: Three Case Reports Imaging Using a Tri-Modality PET/CT-MR System
Authors: Shuguang Han, Xiaopeng Wang, Kai Xu, Chunfeng Hu
Journal: Medicine (Baltimore) (2016)
MeSH terms: Cerebellar Diseases / diagnostic imaging, Case Reports, Aged, Cerebellar Diseases / etiology, Female, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Radiography, Supratentorial Neoplasms / complications, Tomography, Emission-Computed, Single-Photon

Crossed cerebellar diaschisis (CCD) describes a depression of oxidative metabolism glucose and blood flow in the cerebellum secondary to a supratentorial lesion in the contralateral cerebral hemisphere. PET/MR has the potential to become a powerful tool for demonstrating and imaging intracranial lesions .We herein report 3 cases of CCD imaging using a tri-modality PET/CT-MR set-up for investigating the value of adding MRI rather than CT to PET in clinical routine.We describe 3 patients with CCD and neurological symptoms in conjunction with abnormal cerebral fluorodeoxyglucose (FDG) positron emission tomography/computed tomography-magnetic resonance imaging (PET/CT-MR) manifestations including arterial spin-labeling (ASL) and T2-weighted images. In all, 18FDG-PET/CT detected positive FDG uptake in supratentorial lesions, and hypometabolism with atrophy in the contralateral cerebellum. More than that, hybrid PET/MRI provided a more accurate anatomic localization and ASL indicated disruption of the cortico-ponto-cerebellar pathway.Using pathology or long-term clinical follow-up to confirm the PET and ASL findings, the supratentorial lesions of the 3 patients were respectively diagnosed with cerebral infarction, recurrent glioma, and metastasis.The reports emphasize the signi&filig;cance of multimodality radiological examinations. Multimodality imaging contributes to proper diagnosis, management, and follow-up of supratentorial lesions with CCD.
Case Report: Ocular toxoplasmosis in a WHIM syndrome immunodeficiency patient
Authors: David H McDermott, Lauren E Heusinkveld, Wadih M Zein, H Nida Sen, Martha M Marquesen, Mark Parta, Sergio D Rosenzweig, Gary A Fahle, Michael D Keller, Henry E Wiley, Philip M Murphy
Journal: F1000Res (2019)
Keywords: cxcr4, genetic immunodeficiency, optic neuritis, retinitis, toxoplasma gondii, treatment
MeSH terms: Primary Immunodeficiency Diseases, Toxoplasmosis, Ocular, Warts, Case Reports, Research Support, N.I.H., Extramural, Research Support, N.I.H., Intramural, Humans, Toxoplasma, Trimethoprim, Sulfamethoxazole Drug Combination, Trimethoprim, Sulfamethoxazole Drug Combination, WHIM syndrome

A patient with WHIM syndrome immunodeficiency presented with sudden painless right eye blindness associated with advanced retinal and optic nerve damage. Toxoplasma gondii was detected by PCR in vitreous fluid but not serum. The patient was treated with pyrimethamine/sulfadiazine for 6 weeks due to evidence of active ocular inflammation and then received prophylaxis with trimethoprim-sulfamethoxazole due to his immunosuppression. Vision did not return; however, the infection did not spread to involve other sites. Toxoplasmosis is rare in primary immunodeficiency disorders and is the first protozoan infection reported in WHIM syndrome.
Overlooked Fracture of the Inferior Scapular Angle Treated Conservatively
Authors: Kiyohisa Ogawa, Wataru Inokuchi, Takayuki Honma
Journal: Case Rep Orthop (2019)
MeSH terms: Case Reports

Isolated fracture of the inferior scapular angle is extremely rare. We present the case of a 20-year-old female with persistent periscapular pain and a winged scapula caused by delayed union of an inferior scapular angle (ISA) fracture. Ten months previously, the patient had a car accident while seated in the left rear passenger seat. The patient visited an orthopedic clinic where a surgeon diagnosed left shoulder contusion without any abnormal radiographic findings. The left arm was kept in a sling for 2 months, as left arm elevation caused severe pain in the upper back. After sling removal, the dull pain around the left scapula continued. The patient presented at our clinic because her mother had noticed the deformity of her back. Radiographs showed a small bony fragment in the ventral side of the ISA. Computed tomography revealed a narrow gap between the ISA and the fragment. The patient's symptoms resolved with conservative treatment that consisted of relative rest for 2 months and subsequent reinforcement exercises of the serratus anterior for 2 months.
A case of colonoscopy-induced Wunderlich's syndrome in a hemodialysis patient: coincidence or association?
Authors: Antoine Jean Zgheib, Elias Gerges Mansour, Joe Nohra Nohra
Journal: J Bras Nefrol (2023)
MeSH terms: Kidney Neoplasms, Case Reports, Female, Hemorrhage / etiology, Humans, Middle Aged, Renal Dialysis / adverse effects, Retroperitoneal Space, Syndrome

Wunderlich syndrome, or spontaneous renal hemorrhage (SRH), is a rare condition encountered in patients undergoing chronic hemodialysis (HD) usually attributed to acquired cystic kidney disease (ACKD) among other causes. In the literature, colonoscopy is associated with splenic injuries, and renal hemorrhage has not been previously described. Management can range from conservative treatment to angiographic embolization or exploration and nephrectomy. Here we report an unusual case of a 54-year-old woman HD patient who presented with SRH within a few days of colonoscopy. The reason of SRH was rupture of an ACKD cyst. We assumed that colonoscopy was a provoking factor and elaborated hypotheses for its etiopathogenesis. The patient underwent successful left nephrectomy. The importance of this case lies in the fact that colonoscopy is not always an innocent procedure in HD patients, and could be complicated by renal cyst hemorrhage.
Modified bluegrass appliance: a nonpunitive therapy for thumb sucking in pediatric patients-a case report with review of the literature
Authors: Amish Diwanji, Preet Jain, Jigar Doshi, Prakash Somani, Dhaval Mehta
Journal: Case Rep Dent (2013)

Oral habits in form of digit/thumb sucking are common phenomenon and part of childhood behavior. They are normally associated with oral pleasure, hunger, anxiety, and sometimes psychological disturbances. Chronic practice can cause major orthopedic alterations to the skeletal structures of the oral cavity and lower face. Aversive approaches in form of punitive therapy have been moderately effective. Modified bluegrass appliance is nonpunitive therapy to treat sucking habits. It acts as a habit reversal technique and installs positive reinforcement in children. Modified blue grass appliance proved to be very comfortable to patients and encourages neuromuscular stimulations.
"Sickle cell trait and haemophilia: a rare association"
Authors: Hayat El Maataoui, Amina Fahi, Bouchra Oukkache
Journal: Pan Afr Med J (2018)
Keywords: haemophilia a, association, sickle cell trait, sikle cell disease
MeSH terms: Hemophilia A / complications, Hemorrhage / etiology, Sickle Cell Trait / complications, Case Reports, Child, Preschool, Circumcision, Male, Humans, Infant, Male

In this paper we analyze the combination of HbAS disease and haemophilia A must be exceedingly rare. Because of this rarity we report the case of two brothers with sickle cell trait and major haemophilia A. We conclude that it is about a post-circumcision bleeding due to major hemophilia A associated to sickle cell AS, this association was a systematic discovery.
Primary retroperitoneal angiosarcoma: A case report
Authors: Bin-Qiong Chen, Wei-Wen Luo, Wen-Jie Lin, Wei Zhuang, Shi-Lin Li
Journal: Open Life Sci (2023)
Keywords: angiosarcoma, primary, retroperitoneal
MeSH terms: Case Reports

Angiosarcoma is a rare subtype of soft tissue sarcoma with identifiable vascular differentiation. It can occur at any age and develop throughout the body, but it is most commonly found in skin, soft, and breast tissues. Primary retroperitoneal angiosarcoma is rarely reported in the relevant literature. This article reports a case of primary retroperitoneal angiosarcoma in a middle-aged man, with the relevant literature reviewed in detail. A 46-year-old male had experienced left waist pain for 2 months. An ultrasonic examination revealed a mass in the left retroperitoneum, and left retroperitoneal lesions were confirmed via computed tomography (CT) and magnetic resonance imaging (MRI). The tumor was removed surgically, and the CT scan revealed local tumor recurrence after 1 month when the first adjuvant therapy was performed. The patient died of a massive hemorrhage from a ruptured tumor. Angiosarcoma has high malignancy and a poor prognosis. Its early diagnosis and treatment significantly impact the long-term survival rate of patients.
Case report: Strategies for improving outcomes in patients with primary ovarian small-cell neuroendocrine carcinoma
Authors: YingYing Li, Yueling Wu, Ying Zhang, Xiaofang Li
Journal: Front Oncol (2022)
Keywords: case report, metastatic disease, ovarian cancer, pulmonary type, small cell neuroendocrine tumor
MeSH terms: Case Reports

Small-cell neuroendocrine carcinoma (SCNEC) of the ovary is a gynecological malignancy characterized by rapid progression and poor prognosis. SCNEC is divided into primary and metastatic tumor. Primary ovarian neuroendocrine cancer is extremely rare and has a low 5-year survival rate. This paper reports the clinical manifestations of a 58-year-old patient with primary ovarian Small-cell neuroendocrine carcinoma and the prognosis after surgical adjuvant chemotherapy. The prevailing literature on this carcinoma is also reviewed and summarized. Our analysis reveals that histopathological examination is the standard diagnostic tool for ovarian SCNEC. We also highlight the importance of comprehensive imaging evaluation, early pathological diagnosis and comprehensive aggressive treatment to the prognosis of patients.
Mineral Trioxide Aggregate as an Apexogenesis Agent for Complicated Crown Fractures in Young Permanent Incisor
Authors: Bibhav Dubey, Monika Rathore
Journal: Case Rep Dent (2023)
MeSH terms: Case Reports

Traumatic dental injuries are extremely common in children, and trauma to developing permanent teeth can disrupt root maturation; vital pulp therapy is an appropriate treatment for these teeth. This case report describes a 9-year-old boy who suffered dental trauma while playing football, resulting in an enamel-dentin fracture with pulp exposure in the left central incisor with an open apex (Cvek's stage 3) and an enamel-dentin fracture in the right central incisor with an open apex (Cvek's stage 3). Apexogenesis with mineral trioxide aggregate was performed to preserve the neurovascular bundle, allowing normal radicular formation in the left central incisor. During a 2-year follow-up, the tooth showed no signs and symptoms, and radiographic examinations revealed no evidence of radiolucent lesions in the periapical region. This case study provides compelling evidence that the utilization of the described agent yields significant efficacy in treating traumatic fractures accompanied by pulp exposure.
Massive Facial Presentation of Dermatofibrosarcoma Protuberans
Authors: Sebastiaan Hermans, Karlijn Clarysse, David Emmanuel Las, Johan de Mey, Maurice Yves Mommaerts, Yannick De Brucker
Journal: Case Rep Radiol (2022)
MeSH terms: Case Reports

Dermatofibrosarcoma protuberans is a low-grade cutaneous sarcoma typically located on the trunk or proximal extremities. Less common locations include the head, face, and neck area. This tumour is slow growing with variable clinical appearance. It is known for its locally invasive nature and low metastatic propensity. Because imaging findings are rather nonspecific, biopsy is needed for definite diagnosis. This case describes an unusually large example of dermatofibrosarcoma protuberans in the less common preauricular region.
Agenesis of submandibular glands: a report of two cases with review of literature
Authors: Medine Kara, Oğuz Güçlü, Fevzi Sefa Dereköy, Mustafa Resorlu, Gürhan Adam
Journal: Case Rep Otolaryngol (2014)

Background. Congenital absence of the submandibular gland (SMG) is a rare condition. Although complaints such as dry mouth, dental problems, or difficulty in swallowing may be seen, the subjects may also be asymptomatic. The absence of the SMG may be associated with hypertrophy of the contralateral SMG. Case Report. We report the case of a 44-year-old woman with incidentally detected left SMG aplasia, with contralateral SMG hypertrophy mimicking a mass, and the case of a 46-year-old woman with incidentally detected bilateral SMG aplasia, demonstrated by computerized tomography (CT) and magnetic resonance imaging (MRI). Conclusion. It is important for the clinician to know that this very rare abnormality may exist. When such a case is encountered, symptoms and findings should be reevaluated and, if necessary, conservative therapy should be initiated. The possibility of observing additional deformities should be kept in mind and an evaluation should be done for other cases in the family.
Transient lower cranial nerve palsies following spinal anesthesia with bupivacaine-fentanyl combination for transurethral resection of the prostate
Authors: Ali Akhaddar, Mohcine Salami, Youssef Darouassi
Journal: Pan Afr Med J (2020)
Keywords: dysphagia, bupivacaine, dysphonia, fentanyl, neurologic complication, spinal anesthesia
MeSH terms: Anesthesia, Spinal / adverse effects, Cranial Nerve Diseases / etiology, Transurethral Resection of Prostate / methods, Case Reports, Adjuvants, Anesthesia / administration & dosage, Adjuvants, Anesthesia / adverse effects, Aged, Anesthesia, Spinal / methods, Anesthetics, Local / administration & dosage, Anesthetics, Local / adverse effects, Bupivacaine / administration & dosage, Bupivacaine / adverse effects, Fentanyl / administration & dosage, Fentanyl / adverse effects, Humans, Male, Adjuvants, Anesthesia, Anesthetics, Local, Fentanyl, Bupivacaine

Spinal anesthesia is a widely used regional anesthesia for many infra-umbilical surgical procedures with proven efficacy and safety. However, although rare, some neurologic complications can occur with potentially life threatening consequences. Among them, lower cranial nerve palsies have been rarely reported in the literature. We report such a case in a 75-year-old man with transient dysphagia, dysphonia and spinal accessory nerve palsy occurring four days after spinal anesthesia for transurethral resection of the prostate. His symptoms completely resolved spontaneously within 2 weeks. The possibility of lower cranial nerve palsies should be added to the potential complications during or following spinal anesthesia with bupivacaine-fentanyl combination. Although transitional, this complication may occur few days after the procedure and need to be promptly recognized, carefully evaluated and treated by conservative measures.
Prolonged Targeted Cardiovascular Epidural Stimulation Improves Immunological Molecular Profile: A Case Report in Chronic Severe Spinal Cord Injury
Authors: Ona Bloom, Jill M Wecht, Bonnie E Legg Ditterline, Siqi Wang, Alexander V Ovechkin, Claudia A Angeli, Anthony A Arcese, Susan J Harkema
Journal: Front Syst Neurosci (2020)
Keywords: blood pressure regulation, cardiovascular regulation, cerebral blood flow velocity, epidural stimulation, immune system, neuromodulation, orthostatic hypotension, spinal cord injury

In individuals with severe spinal cord injury (SCI), the autonomic nervous system (ANS) is affected leading to cardiovascular deficits, which include significant blood pressure instability, with the prevalence of systemic hypotension and orthostatic intolerance resulting in an increased risk of stroke. Additionally, persons with SCI rostral to thoracic vertebral level 5 (T5), where sympathetic nervous system fibers exit the spinal cord and innervate the immune system, have clinically significant systemic inflammation and increased infection risk. Our recent studies show that lumbosacral spinal cord epidural stimulation (scES), applied at the lumbosacral level using targeted configurations that promote cardiovascular stability (CV-scES), can safely and effectively normalize blood pressure in persons with chronic SCI. Herein we present a case report in a female (age 27 years) with chronic clinically motor complete cervical SCI demonstrating that 97-sessions of CV-scES, which increased systemic blood pressure, improved orthostatic tolerance in association with increased cerebral blood flow velocity in the middle cerebral artery, also promoted positive immunological changes in whole-blood gene expression. Specifically, there was evidence of the down-regulation of inflammatory pathways and the up-regulation of adaptative immune pathways. The findings of this case report suggest that the autonomic effects of epidural stimulation, targeted to promote cardiovascular homeostasis, also improves immune system function, which has a significant benefit to long-term cardiovascular and immunologic health in individuals with long-standing SCI. Clinical Trial Registration: www.ClinicalTrials.gov, identifier NCT02307565.