OpenMed/multicare-articles huggingface dataset:
Case report: Fatal lung hyperinflammation in a preterm newborn with SARS-CoV-2 infection
Authors: Daniela Aguilar-Caballero, Jose M C Capcha, Veronica Caballero, Karen C Young, Shahnaz Duara, Michael Borchetta, Ivan Gonzalez, Ali G Saad, Keith A Webster, Lina A Shehadeh, Emmalee S Bandstra, Augusto F Schmidt
Journal: Front Pediatr (2023)
Keywords: covid-19, ldlr, sars-cov-2, heart, hyperinflammation, lung, newborn
MeSH terms: Case Reports

Vertical transmission of SARS-CoV-2 from mother to fetus is widely accepted. Whereas most infected neonates present with mild symptoms or are asymptomatic, respiratory distress syndrome (RDS) and abnormal lung images are significantly more frequent in COVID-19 positive neonates than in non-infected newborns. Fatality is rare and discordant meta-analyses of case reports and series relating perinatal maternal COVID-19 status to neonatal disease severity complicate their extrapolation as prognostic indicators. A larger database of detailed case reports from more extreme cases will be required to establish therapeutic guidelines and allow informed decision making. Here we report an unusual case of a 28 weeks' gestation infant with perinatally acquired SARS-CoV-2, who developed severe protracted respiratory failure. Despite intensive care from birth with first line anti-viral and anti-inflammatory therapy, respiratory failure persisted, and death ensued at 5 months. Lung histopathology showed severe diffuse bronchopneumonia, and heart and lung immunohistochemistry confirmed macrophage infiltration, platelet activation and neutrophil extracellular trap formation consistent with late multisystem inflammation. To our knowledge, this is the first report of SARS CoV-2 pulmonary hyperinflammation in a preterm newborn with fatal outcome.
A novel homozygous variant of TMEM260 induced cardiac malformation and neurodevelopmental abnormality: case report and literature review
Authors: Mou Peng, Siyuan Jing, Sichen Duan, Guoyan Lu, Kaiyu Zhou, Yimin Hua, Tao Wang, Peng Yue, Yifei Li
Journal: Front Med (Lausanne) (2023)
Keywords: tmem260, cardiac malformation, case report, literature review, neurological disorder
MeSH terms: Case Reports

Background:
Congenital heart disease (CHD) represents the most widespread congenital birth defect among neonates worldwide, leading to substantial expenses and contributing significantly to premature death caused by birth defects. Despite the significance of CHD, research on its etiology remains limited and has failed to provide substantial evidence for the molecular basis of the disease. With the advancement of next-generation sequencing (NGS), genetic screening has become increasingly accessible, offering a greater capability for identifying potential genetic variants associated with CHD.
Case presentation:
Exome sequencing and variant analysis of TMEM260 were performed to obtain genetic data, and clinical characteristics were determined. A complex and severe form of CHD, comprising a persistent truncus arteriosus type I, ventricular septal defect, right aortic arch, as well as critical neurodevelopmental delay and neurological dysfunction, was observed in a patient. This proband presented global muscle hypotonia and a significant delay in gross and fine motor development. Cranial computed tomography scanning showed the presence of bilateral apical, occipital, and temporal subdural effusions; slightly wider bilateral lateral ventricles and annular cisterns; and bilateral cerebral hemispheric parenchyma atrophy. Upon genetic analysis of the patient, a novel homozygous mutation was identified in the TMEM260 gene. The mutation, c.1336_1339DEL, was found to be homozygous and resulted in a frameshift mutation, causing a p.L447Vfs*9 amino acid change. This mutation led to the deletion of a TCTC sequence from positions 1336 to 1339 in the TMEM260 gene, changing leucine to valine at amino acid 447 and introducing a stop codon after the ninth amino acid. This structural deletion in the TMEM260 protein resulted in the loss of gene function.
Conclusion:
This case report presents a newly discovered variant site in the TMEM260 gene and reinforces the relationship between TMEM260 molecular function and differentiation of mesoderm and ectoderm. Furthermore, our findings broaden the spectrum of variants in the TMEM260 gene and contribute to advancing the genetic understanding of CHD.
3M syndrome: a report of four cases in two families
Authors: Ayla Güven, Ayşe Nurcan Cebeci
Journal: J Clin Res Pediatr Endocrinol (2011)
MeSH terms: Dwarfism / diagnosis, Intellectual Disability / diagnosis, Muscle Hypotonia / diagnosis, Case Reports, Child, Dwarfism / genetics, Dwarfism / pathology, Female, Humans, Intellectual Disability / genetics, Intellectual Disability / pathology, Male, Muscle Hypotonia / genetics, Muscle Hypotonia / pathology, Spine / abnormalities, Spine / pathology, Miller-McKusick-Malvaux-Syndrome (3M Syndrome)

3M syndrome is a rare entity characterized by severe growth retardation, dysmorphic features and skeletal changes as its major components. It is differentiated from other types of dwarfism by its clinical features and by the typical slender long bones and foreshortened vertebral bodies that can be visualized radiographically. 3M syndrome has an autosomal recessive mode of inheritance. An early diagnosis is important for genetic counseling. In this report, we present four children (3 males, 1 female) from two families who were aged between 4(11/12) and 10(11/12) years and had clinical findings of 3M syndrome. One of these patients had received growth hormone (GH) treatment which was discontinued due to an inadequate height gain. Physicians should be aware of this entity in the differential diagnosis of children with severe short stature and mild skeletal changes.
Laparoscopic appendicectomy for suspected mesh-induced appendicitis after laparoscopic transabdominal preperitoneal polypropylene mesh inguinal herniorraphy
Authors: Jason M Jennings, Philip Ch Ng
Journal: J Minim Access Surg (2010)
Keywords: appendicectomy, appendicitis, inguinal herniorraphy, laparoscopy, mesh, polypropylene
MeSH terms: Case Reports

Laparoscopic inguinal herniorraphy via a transabdominal preperitoneal (TAPP) approach using Polypropylene Mesh (Mesh) and staples is an accepted technique. Mesh induces a localised inflammatory response that may extend to, and involve, adjacent abdominal and pelvic viscera such as the appendix. We present an interesting case of suspected Mesh-induced appendicitis treated successfully with laparoscopic appendicectomy, without Mesh removal, in an elderly gentleman who presented with symptoms and signs of acute appendicitis 18 months after laparoscopic inguinal hernia repair. Possible mechanisms for Mesh-induced appendicitis are briefly discussed.
Congenital anterior urethral diverticulum in children: a case report and review
Authors: Y S Kadian, K N Rattan, Mahavir Singh, Pradeep Kajal
Journal: ISRN Surg (2011)
MeSH terms: Case Reports

Congenital anterior urethral diverticulum (CAUD) is an uncommon condition in children. We describe 2 patients of CAUD who presented with ventral penile swelling; in one, the site of swelling was just proximal to corona which is quite rare. The diagnosis was made on USG and MCU. Both patients had normal renal function. Open diverticulectomy and primary repair was done in both patients.
Case report: Radiotherapy plus pneumococcal conjugate vaccine stimulates abscopal immune response in a patient with ALK+ NSCLC
Authors: Yong-Sheng Huang, Zhuo Li, Ze-Fen Xiao, Dan Li, Wen-Yang Liu
Journal: Front Immunol (2022)
Keywords: alk+ non-small cell lung cancer, abscopal effect, case report, macrophagal-lymphocytic infiltration, pneumoccal vaccination, radiotherapy
MeSH terms: Carcinoma, Non-Small-Cell Lung, Lung Neoplasms, Case Reports, Research Support, Non-U.S. Gov't, Anaplastic Lymphoma Kinase, Drug Resistance, Neoplasm, Humans, Immunity, Protein Kinase Inhibitors, Tumor Microenvironment, Vaccines, Conjugate, Protein Kinase Inhibitors, Vaccines, Conjugate, Anaplastic Lymphoma Kinase

Most patients with anaplastic lymphoma kinase-positive (ALK+) non-small-cell lung cancer (NSCLC) could benefit from the treatment with selected tyrosine kinase inhibitors (TKIs) for a period of time, but almost inevitably progress due to drug resistance. It was reported that these patients were generally unresponsive to immune-based therapies. Here, we reported that stereotactic body radiotherapy (SBRT) combined with pneumococcal conjugate vaccine (PCV) produced excellent therapeutic outcomes in a patient after multiple lines of TKI treatment. The patient's metastasis lesion experienced regression after SBRT for lumbar spine. Unexpectedly, the patient also experienced an abscopal complete pathological response (CPR) just after combination use of SBRT and PCV. Biopsy analysis indicated that the primary lung lesion was map-like necrotic and infiltrated by tumor-infiltrating lymphocytes (TILs), and multifocal granulomas and early tertiary lymphoid structures (TLS) were formed. Our case reported that radiotherapy plus PCV could specifically stimulate immune response and remodel the tumor immune microenvironment in TKI-resistant NSCLC, which may provide a new perspective for future immunotherapy in this challenging clinical situation.
Posterior Interosseous Fascicular Constriction Within the Radial Nerve in a Diabetic Patient With Bilateral Neuralgic Amyotrophy: A Case Report
Authors: Woojun Kim, Soo Hwan Kang, Jae Young An
Journal: Front Neurol (2021)
Keywords: fascicular constriction, neuralgic amyotrophy, posterior interosseous nerve, radial nerve, ultrasound
MeSH terms: Case Reports

Background: Neuralgic amyotrophy (NA) is an acute, monophasic, painful inflammatory dysimmune focal, or multifocal mononeuropathy. The lesion in NA is not always restricted to the brachial plexus but also involves individual nerves or branches. The prognosis of NA is less favorable than previously assumed, but the reasons for poor recovery remain unknown. Nerve constriction may be one of the causes of poor prognosis in NA. Case Presentation: Herein, we described a 54-year-old male with a history of type 2 diabetes in whom bilateral neuralgic amyotrophy developed with constriction of the posterior interosseous fascicle within the radial nerve. The patient experienced sudden-onset severe pain in both shoulders followed, 2 days later, by weakness in bilateral shoulders and the left forearm extensors over the subsequent month. The left forearm extensors were more severely affected than both shoulder girdle muscles. He noted a 7-kg weight loss for 1 month before pain onset. After diagnosing diabetic NA based on the clinical symptoms, imaging, and electrophysiological studies, treatment with systemic steroids improved pain and weakness in both shoulder muscles. Weakness in the left forearm extensors persisted after 1 month of steroid treatment. Follow-up ultrasound revealed constriction of the posterior interosseous fascicle within the main trunk of the left radial nerve at the elbow. Surgical exploration at 6 months after onset identified fascicle constriction, for which neurolysis was performed. Weakness in the extensors of the wrist and fingers did not improve during the 16-month follow-up. Conclusion: A single constriction of the fascicle within a peripheral nerve may often be under-recognized if NA presents with variable degrees of weakness in bilateral upper limbs. Furthermore, fascicular constriction without edema of the parent nerve may be easily missed on the initial ultrasound. A lack of early recognition of nerve constriction and delay in surgical intervention can result in unfavorable outcomes. The physician should consider the possibility of the fascicular constriction when evaluating patients suspected of brachial NA with significant weakness in the distal upper limb compared to the proximal weakness or weakness of the distal upper limb that does not improve over time.
Mathematical COVID-19 model with vaccination: a case study in Saudi Arabia
Authors: Abeer D Algarni, Aws Ben Hamed, Monia Hamdi, Hela Elmannai, Souham Meshoul
Journal: PeerJ Comput Sci (2022)
Keywords: covid-19, mathematical model, stability, vaccination

The discovery of a new form of corona-viruses in December 2019, SARS-CoV-2, commonly named COVID-19, has reshaped the world. With health and economic issues at stake, scientists have been focusing on understanding the dynamics of the disease, in order to provide the governments with the best policies and strategies allowing them to reduce the span of the virus. The world has been waiting for the vaccine for more than one year. The World Health Organization (WHO) is advertising the vaccine as a safe and effective measure to fight off the virus. Saudi Arabia was the fourth country in the world to start to vaccinate its population. Even with the new simplified COVID-19 rules, the third dose is still mandatory. COVID-19 vaccines have raised many questions regarding in its efficiency and its role to reduce the number of infections. In this work, we try to answer these question and propose a new mathematical model with five compartments, including susceptible, vaccinated, infectious, asymptotic and recovered individuals. We provide theoretical results regarding the effective reproduction number, the stability of endemic equilibrium and disease free equilibrium. We provide numerical analysis of the model based on the Saudi case. Our developed model shows that the vaccine reduces the transmission rate and provides an explanation to the rise in the number of new infections immediately after the start of the vaccination campaign in Saudi Arabia.
An unusual presentation of necrotizing pneumonia caused by foreign body retention in a 20-month-old child: A case report and literature review
Authors: Yuqi Wang, Yunlian Zhou, Feng Pan, Yingshuo Wang
Journal: Front Pediatr (2023)
Keywords: bronchiectasis, children, foreign body aspiration, necrotizing pneumonia, visit time
MeSH terms: Case Reports

Necrotizing pneumonia (NP) is a rare but serious complication that occurs after foreign body retention. We report a case of severe NP in an infant caused by foreign body retention in the airway with no choking history. After a timely tracheoscopy and effective antibiotic treatment, her initial clinical symptoms were alleviated. However, she subsequently exhibited pulmonary manifestations of necrotizing pneumonia. To reduce the risk of NP from foreign body aspiration, for patients with airway obstruction and asymmetrical opacity of both lungs, timely diagnostic bronchoscopic evaluation is essential.
Case report: Self-performed orthopedic exams in telehealth treatment of a youth athlete with acute rotator cuff strain
Authors: Yuxuan Wang, Nuo Yi, Hayley M Ericksen, Wupeng Zhang
Journal: Front Sports Act Living (2023)
Keywords: orthopedic examination, rotator cuff strain, sports rehabilitation, telehealth, youth athletes
MeSH terms: Case Reports

Background:
Sports-related rotator cuff muscle injury is one of the most prevalent pathologies affecting overhead sports athletes. Since the COVID-19 pandemic and its subsequent stay-at-home protocols, physical therapy has transited into a new realm of telehealth. Current evidence regarding examining and managing RTC strain in telehealth physical therapy is minimal.
Case presentation:
A self-referred 14-year-old female Chinese semi-professional tennis player presented with an acute right RTC strain. The mechanism of injury involved forehand strokes with left trunk rotation. No ligamentous or labral damage was observed on Magnetic Resonance Imagining. The individualized care plan included virtual partner-assisted assessment, online instructions on therapeutic exercises, and education with psychosocial considerations.
Outcome and follow-up:
After a 6-week intervention, the patient demonstrated complete shoulder range of motion, full muscle strength, complete return-to-practice, 0% Quick DASH disability index, and 6/68 on the Tampa Scale for kinesiophobia.
Discussion:
This case report demonstrated that telehealth is an accessible and cost-effective option for youth tennis athletes with RTC strain. This unique case showed a detailed roadmap from examination to discharge of this plan of care. There are also barriers including test and measure validity, and communication difficulties to be considered. Despite the challenges, this case was a good example of telehealth being an effective, repeatable, and cost-efficient option for patients with poor healthcare access.
Follow-up during early infancy of newborns diagnosed with subcutaneous fat necrosis
Authors: Mustafa Ali Akın, Leyla Akın, Dilek Sarıcı, Ibrahim Yılmaz, Süleyman Balkanlı, Selim Kurtoğlu
Journal: J Clin Res Pediatr Endocrinol (2011)
MeSH terms: Fat Necrosis / complications, Subcutaneous Fat / pathology, Case Reports, Calcium / blood, Fat Necrosis / pathology, Female, Follow-Up Studies, Humans, Hypercalcemia / etiology, Infant, Infant, Newborn, Calcium

Subcutaneous fat necrosis of the newborn (ScFN) is an uncommon condition caused by generalized and/or local tissue hypoperfusion. The skin lesions of ScFN tend to improve spontaneously. However, ScFN may also lead to complications which cause serious problems. The severity of the etiologic factors contributing to the development of the disease determines the severity of complications. Therefore, these patients should be closely monitored for complications, especially for hypercalcemia which may be life-threatening. The severity and duration of hypercalcemia are associated with the extensity of skin lesions. We present a newborn who developed ScFN as a result of systemic hypotension. The ScFN resolved after the first few weeks of life, but the patient developed mild hypercalcemia during the 4-month follow-up period. The infant was breast-fed during follow-up, and vitamin D prophylaxis was not initiated. The hypercalcemia resolved within four months without any complications. We would like to draw attention to the need to monitor serum calcium levels in these infants and to refrain from initiating vitamin D prophylaxis in the first months of life.
Two cases of pulmonary tuberculosis caused by Mycobacterium tuberculosis subsp canetti
Authors: Jean Miltgen, Marc Morillon, Jean-Louis Koeck, Anne Varnerot, Jean-François Briant, Gilbert Nguyen, Denis Verrot, Daniel Bonnet, Véronique Vincent
Journal: Emerg Infect Dis (2002)
MeSH terms: Mycobacterium tuberculosis / classification, Mycobacterium tuberculosis / isolation & purification, Tuberculosis, Pulmonary / microbiology, Case Reports, Adult, Antitubercular Agents / therapeutic use, Bacterial Typing Techniques, DNA Fingerprinting, Humans, Isoniazid / therapeutic use, Male, Middle Aged, Mycobacterium tuberculosis / genetics, Rifampin / therapeutic use, Tuberculosis, Pulmonary / diagnosis, Tuberculosis, Pulmonary / drug therapy, Antitubercular Agents, Isoniazid, Rifampin

We identified an unusual strain of mycobacteria from two patients with pulmonary tuberculosis by its smooth, glossy morphotype and, primarily, its genotypic characteristics. Spoligotyping and restriction fragment length polymorphism typing were carried out with the insertion sequence IS6110 patterns. All known cases of tuberculosis caused by Mycobacterium canetti have been contracted in the Horn of Africa.
A technique for the management of posttraumatic aniridia and aphakia
Authors: Rita Sousa Silva, Carolina Pereira Bruxelas, Gabriel Costa Andrade, André Correa Maia
Journal: GMS Ophthalmol Cases (2020)
Keywords: aniridia, aphakia, iris prosthesis, trauma
MeSH terms: Case Reports

Aim: To describe our results with HumanOptics IOL-ArtificialIris complex in post traumatic aphakia and aniridia. Methods: Retrospective, single-surgeon chart review of cases in which aniridia and aphakia were corrected using HumanOptics IOL-ArtificialIris complex sutured to the sclera with Gore-Tex® sutures and coupled with the Akreos® IOL (Bausch&Lomb). Results: The authors present four cases of ocular trauma with globe rupture. For every patient, posterior vitrectomy was done and an artificial iris-lens diaphragm was sutured to the sclera. All patients had a good functional and cosmetic outcome. Conclusions: Surgical implantation of the HumanOptics IOL-ArtificialIris complex coupled with the Akreos® IOL was successful in alleviating post-trauma aphakia and aniridia related visual impairment.
Aspergillus terreus Meningitis in Immunocompetent Patient: A Case Report
Authors: Abdelrahman Elsawy, Hani Faidah, Abdalla Ahmed, Asmaa Mostafa, Farah Mohamed
Journal: Front Microbiol (2015)
Keywords: aspergillus, immunocompetent, meningitis, patient, terreus
MeSH terms: Case Reports

We present a description of a rare but dangerous case of fungal meningitis caused by Aspergillus terreus in an immunocompetent patient with a history of sinus disease.
Acute disseminated actinomycosis presenting as pneumonia with bilateral pulmonary nodules and pelvic osteomyelitis in an immunocompetent patient
Authors: Sachin M Patil, Phillip Paul Beck, Maryna Vaznitsel, Andres Bran-Acevedo, Michael Hunter, Jonathan Ross Ang, William Roland
Journal: IDCases (2022)
Keywords: actinomyces odontolyticus, actinomycosis, disseminated, pneumonia, pulmonary nodules
MeSH terms: Case Reports

Actinomycosis is an indolent human infectious disease caused by gram-positive anaerobic filamentous bacteria Actinomyces. Despite its sluggish growth, clinical manifestations can be acute or chronic. Over the last five decades, a significant incidence decline in the western world is due to the discovery of effective antimicrobials and improved oral hygiene. Actinomycosis is now rarely encountered and often misdiagnosed as its manifestations mimic malignancy and other infectious diseases. Due to prior use of antimicrobials, laboratory diagnostic processes often fail to isolate the organism making it arduous to establish the diagnosis. Clinical classification is based on the geographical distribution of the disease as oro-cervicofacial, thoracic, abdominopelvic, neurologic, musculoskeletal, and disseminated. Disseminated and pulmonary actinomycosis in an immunocompetent individual is extremely rare. Here we present a 53-year-old healthy male presenting with acute disseminated actinomycosis with bilateral pulmonary nodules, right upper lobe pneumonia, and pelvic osteomyelitis from Actinomyces odontolyticus infection.
A Case of Cardiac Arrest Caused by Air Embolism from Routine Root Canal Procedure
Authors: Akarsh Parekh, Joel McCormick, Atheer Hussain-Amin, Bryan Barnosky, Matthew Edwards
Journal: Methodist Debakey Cardiovasc J (2022)
Keywords: air embolism, cardiopulmonary arrest, dental surgery, root canal procedure
MeSH terms: Embolism, Air / diagnostic imaging, Embolism, Air / etiology, Embolism, Air / therapy, Heart Arrest / diagnosis, Heart Arrest / etiology, Heart Arrest / therapy, Case Reports, Aged, Dental Pulp Cavity, Humans, Male, Veins

Venous air embolism (VAE) occurs when air is introduced into the venous system and subsequently travels into the right heart and pulmonary circulation. VAE mainly occurs from air that is forced by positive pressure or drawn in by negative pressure. We present a rare case of fatal VAE that occurred during a routine dental root canal procedure. A 69-year-old male was undergoing a root canal procedure at an outpatient dental office under local anesthesia. During the procedure, he went into cardiopulmonary arrest. He was resuscitated, and return of spontaneous circulation was achieved. Thoracic computed tomography was performed and revealed large amounts of air within the right ventricle and portal venous system. VAE should be recognized as a potentially fatal complication resulting from routine dental procedures.