OpenMed/multicare-articles huggingface dataset:
Implantation of atrial flow regulator devices in patients with congenital heart disease and children with severe pulmonary hypertension or cardiomyopathy-an international multicenter case series
Authors: Gianfranco Butera, Enrico Piccinelli, Adam Kolesnik, Kostantin Averin, Cameron Seaman, Biagio Castaldi, Elena Cuppini, Alain Fraisse, Carles Bautista-Rodriguez, Sebastien Hascoet, Carmen D'Amore, Alban-Elouen Baruteau, Pedro Betrián Blasco, Lisa Bianco, Andreas Eicken, Matthew Jones, James A Kuo, Grazyna Brzezinska Rajszys
Journal: Front Cardiovasc Med (2024)
Keywords: fontan circulation, atrial flow regulator device, congenital heart disease, extracorporeal membrane oxygenation, pulmonary hypertension

Background:
The Occlutech Atrial Flow Regulator (AFR) is a self-expandable double-disc nitinol device with a central fenestration. Its use has been approved in the adult population with heart failure and described for pulmonary hypertension (PH). Only case reports and small series have been published about its use in the paediatric population and for congenital heart disease (CHD).
Objectives:
The authors sought to investigate the feasibility, safety, and short-term follow-up of AFR implantation in patients with CHD or children with PH or cardiomyopathy.
Methods:
This is a multicenter retrospective study involving 10 centers worldwide. Patients of any age with CHD or patients aged < 18 years with PH or cardiomyopathy needing AFR implantation were included.
Results:
A total of 40 patients underwent AFR implantation. The median age of the population at the time of the procedure was 58.5 months (IQR: 31.5-142.5) and the median weight was 17 kg (IQR: 10-46). A total of 26 (65.0%) patients had CHD, nine (22.5%) children, a cardiomyopathy, and five (12.5%), a structurally normal heart. The implantation success rate was 100%. There were two early and one late device thrombosis. Two patients (5.0%) with dilated cardiomyopathy on extracorporeal membrane oxygenator (ECMO) died during the hospital stay. At a median follow-up of 330 days (IQR: 125-593), 37 (92.5%) patients were alive. At follow-up, 20 patients improved their New York Heart Association (NYHA) class, 12 patients did not change their NYHA class, and one patient with idiopathic PH worsened.
Conclusions:
AFR implantation in patients with CHD and children with severe PH or cardiomyopathy is promising and seems to have beneficial effects at short-term follow-up.
An unusual presentation of ossified spinal meningioma: case report and literature review
Authors: Wen-Bin Xu, Nai-Kun Sun, Di-Xin Cai, Ding-Qiang Chen, Yuan Niu, Fang Jia, Guang-Xun Lin, Gang Rui
Journal: Front Oncol (2023)
Keywords: dorsal completely ossified meningioma, literature review, ossification, spinal meningioma, thoracic spine tumor
MeSH terms: Review

Background:
Spinal meningioma is a common intraspinal tumor, which mainly occurs in the thoracic spine. Ossified meningioma (OSM) is an extremely rare histological variant. Our article reports a rare patient with dorsal complete OSM and reviews this subject.
Case presentation:
A 68-year-old woman presented with a one-year history of progressive weakness in both lower limbs with gait disturbance. Physical examination revealed hypoesthesia with a sensory level below T10. Babinski and pathological signs on both sides were weakly positive. Magnetic resonance imaging (MRI) showed a mass at the T10 to T11 level causing severe compression of the spinal cord. Computed tomography (CT) showed complete ossification of the mass. 18F-Fluoro-deoxy-glucose positron emission tomography CT (18F-FDG PET/CT) scan combined with MRI revealed that the mass was an intradural extramedullary high-density ossified nodule. The patient underwent a gross total resection of the mass and pathologic examination indicated that the mass was a meningioma with diffused psammomatous bodies.
Conclusion:
We identified a rare case of dorsal complete OSM occurring in a 68-year-old woman. After complete surgical resection, although there were complications such as cerebral fluid leakage and fever, the patient finally recovered with a satisfactory result.
A Case of Nasal Glial Heterotopia That Can Be Misdiagnosed as Storiform Patterned Sclerotic Fibroma/Collagenoma
Authors: Fatma Gundogdu, Deniz Ates Ozdemir, Ibrahim Vargel
Journal: Turk Patoloji Derg (2024)
MeSH terms: Choristoma / diagnosis, Choristoma / pathology, Fibroma / chemistry, Fibroma / diagnosis, Fibroma / pathology, Glioma / chemistry, Glioma / diagnosis, Glioma / pathology, Nose Neoplasms / chemistry, Nose Neoplasms / diagnosis, Nose Neoplasms / pathology, Case Reports, Child, Preschool, Diagnostic Errors, Humans

Objective:
Nasal glioma, also known as nasal glial heterotopia, is a rare tumor-like lesion that often affects newborns or infants with no hereditary predisposition.
Case report:
A 4-year-old child with a growth on the nasal dorsum since birth was diagnosed with nasal glial heterotopia/nasal glioma. The lesion showed a sclerotic fibroma/collagenoma-like storiform pattern with entrapped glial tissue that was S100 and GFAP positive.
Conclusion:
When a biopsy of the nasal dorsum demonstrates sclerotic microscopic findings with a storiform pattern, nasal glioma should be considered before making a diagnosis in the collagen-rich tissue spectrum (collagenoma or Gardner's fibroma), and an immunohistochemical panel should be requested to demonstrate the presence of an unrecognized light microscopically visible glial component.
Gingiva squamous-cell carcinoma in a non-smoking patient with occupational exposure to solvent siphoning using mouth: case report and literature review
Authors: Céline Lamouroux, Louis Brochet, Philippe Zrounba, Barbara Charbotel, Béatrice Fervers
Journal: Front Public Health (2024)
Keywords: case report, occupational, oral cavity squamous cell carcinoma, screen printer, siphoning, solvent exposure
MeSH terms: Carcinoma, Squamous Cell, Occupational Exposure / adverse effects, Solvents, Case Reports, Review, Gingiva / pathology, Gingival Neoplasms, Humans, Male, Middle Aged

Background:
While overall head and neck cancer incidence decreases due to reduced tobacco and alcohol consumption, the incidence of HPV negative oral cavity squamous cell carcinoma (SCC) is raising in several industrialized countries, especially in non-smoking and non-drinking patients.
Case presentation:
We document a case of gingiva SCC in a 56 years old never-smoker patient reporting low alcohol consumption and unusual occupational solvent exposure. The HPV-negative lesion was surgically removed in 2018, and the patient remains in complete remission 4 years after recurrent surgery in 2019. In 2021, the patient was referred to the occupational cancer consultation. The patient worked as screen printer for 18 years. He reported mouth siphoning every 2-3 days to transfer organic solvents (mainly aromatic hydrocarbons and ketones) from containers into smaller recipients, with regular passage of solvents into his mouth.
Conclusion:
According to the literature, the frequency of solvent siphoning using mouth is likely to be underestimated. While our review did not find studies reporting longterm consequences to the oral cavity of mouth siphoning, current evidence supports a positive association of upper aero digestive tract SCC with occupational exposures to organic solvents and printing processes. In absence of major extraprofessional factors, the HPV-negative gingiva SCC of this patient might be attributable to the regular occupational oral solvent exposure. While the available evidence remains limited to formally establish a causal relationship, clinicians should investigate this hazardous work practice in patients with OSCC and history of solvent exposures.
Placental Transmogrification of the Lung in a Patient Without Emphysematous Disease
Authors: Atl Simon Arias Rivera, Natalia De la Maza, Mauricio Damian Gomez Gonzalez, Jesus Vazquez, Alain Ledu Lara, Moises C Calderon Abbo
Journal: Cureus (2024)
Keywords: minimally invasive lung resection, pulmonary bulla, pulmonary placental transmogrification, thoracic ct scan, thorax surgery
MeSH terms: Case Reports

We present a 47-year-old male without a relevant history or past respiratory diseases. He debuted with an acute, non-complicated COVID-19 infection, and later he started with mMRC-2 dyspnea, accompanied by a non-expectorant cough of four months evolution. A CT thoracic scan showed a dilatation of the aerial homogenous space and a well-defined anterior left pericardiac level, and a pericardial left bulla was diagnosed. The patient was treated with surgical intervention by video-assisted thoracoscopic surgery and had an adequate post-surgical evolution. The PPT must be managed by a multidisciplinary team with the definitive treatment of surgical resection.
A Rare Presentation of Drug-Induced Autoimmune Hepatitis and the Role of Male Enhancement Supplements
Authors: Juan Enciso, Ruhi Vasavada-Patel, Kyle Lien
Journal: Cureus (2024)
Keywords: aih, aih -autoimmune hepatitis, autoimmune hepatitis, diaih, drug-induced autoimmune hepatitis, over-the-counter supplement, type 1 drug-induced autoimmune hepatitis, type i aih
MeSH terms: Case Reports

Autoimmune hepatitis (AIH) is a condition characterized by an autoimmune response resulting in chronic inflammatory liver disease. Its presentation is marked by significant increases in serum immunoglobulins and the production of active autoantibodies that target liver tissue. AIH is often associated with other autoimmune disorders, which can lead to overlapping clinical syndromes. However, alternative theories propose that exposure to specific environmental triggers can initiate this autoimmune cascade. We present the case of a 45-year-old male who sought evaluation for abdominal discomfort and was subsequently diagnosed with drug-induced AIH (DIAIH) following prolonged use of an over-the-counter male-enhancing supplement.
Case Study: Analyzing CFTR Mutations and SNPs in Pulmonary Fibrosis Patients with Unclear Symptoms
Authors: Sahar Yousaf, Sumaira, Iqbal Bano, Atia Rehman, Samra Kousar, Muhammad Usman Ghani, Mariam Shahid
Journal: Case Rep Med (2024)
MeSH terms: Case Reports

Cystic fibrosis (CF) is a genetic monogenic disorder inherited in an autosomal recessive manner, marked by persistent airway infections in the endobronchial region. This condition leads to the gradual development of bronchiectasis and, ultimately, respiratory failure, emerging as the primary cause of mortality in individuals diagnosed with CF. Diagnosis is done depending on the patient's symptoms and lung radiological findings like chest X-rays and CTs. In younger patients and children, diagnosis becomes difficult due to overlapping symptoms with other diseases such as CF which is a rare genetic disease in our population. Diagnosis of CF usually relies on characteristic symptoms, a family history of CF, and an abnormal sweat chloride test, but in children, low sweat production during testing leads to false negative results. In this case report, a suspected patient with ambiguous respiratory symptoms underwent a comprehensive investigation revealing elevated CRP levels, TLC, and characteristic pulmonary manifestations on chest X-ray, suggesting cystic fibrosis. Despite negative sweat chloride tests, the patient was analysed for potential candidate SNPs and was also tested for potential CFTR mutations to rule out CF, genetic analysis confirmed the diagnosis. Genetic testing plays a crucial role in diagnosing cystic fibrosis, even when traditional tests are inconclusive. Specific mutations like Δ508 deletion and rs213950 guide personalized treatment. Consanguinity and family history highlight genetic predisposition, while environmental factors may influence symptom onset. Further research is needed to understand these complexities and improve diagnostic and treatment approaches.
Nivolumab-induced diabetes mellitus-a case report with literature review of the treatment options
Authors: Eveline Daetwyler, Alfred Zippelius, Simona Danioth, Marc Y Donath, Lara Gut
Journal: Front Immunol (2023)
Keywords: tnf blockade, case report, diabetes mellitus, immune checkpoint inhibitor (ici), immune-related adverse event (irae)
MeSH terms: Antineoplastic Agents, Immunological / adverse effects, Carcinoma, Renal Cell / diagnosis, Carcinoma, Renal Cell / drug therapy, Diabetes Mellitus / chemically induced, Diabetes Mellitus / drug therapy, Insulins, Kidney Neoplasms, Review, Case Reports, Research Support, Non-U.S. Gov't, Humans, Infliximab, Ipilimumab / adverse effects, Male, Middle Aged, Nivolumab / adverse effects, Nivolumab, Ipilimumab, Antineoplastic Agents, Immunological, Infliximab, Insulins

Background:
Immune checkpoint inhibitor (ICI) treatment has become important for treating various cancer types, including metastatic renal cell carcinoma. However, ICI treatment can lead to endocrine immune-related adverse events (irAEs) by overstimulating the patient's immune system. Here, we report a rare case of a new onset of diabetes mellitus (DM), caused by nivolumab, and we discuss the feasible treatment options with a focus on TNF antagonism.
Case presentation:
A 50-year-old man was diagnosed with metastatic renal cell carcinoma. Due to systemic progression, a combined immunotherapy with ipilimumab and nivolumab was initiated, according to the current study protocol (SAKK 07/17). The administration of ipilimumab was stopped after 10 months, due to partial response as seen in the computer tomography (CT), and nivolumab was continued as monotherapy. Fourteen months after the start of the treatment, the patient was admitted to the emergency department with lethargy, vomiting, blurred vision, polydipsia, and polyuria. The diagnosis of DM with diabetic ketoacidosis was established, although autoantibodies to β-cells were not detectable. Intravenous fluids and insulin infusion treatment were immediately initiated with switching to a subcutaneous administration after 1 day. In addition, the patient received an infusion of the TNF inhibitor infliximab 4 days and 2 weeks after the initial diagnosis of DM. However, the C-peptide values remained low, indicating a sustained insulin deficiency, and the patient remained on basal bolus insulin treatment. Two months later, nivolumab treatment was restarted without destabilization of the diabetic situation.
Conclusions:
In contrast to the treatment of other irAEs, the administration of corticosteroids is not recommended in ICI-induced DM. The options for further treatment are mainly based on the low numbers of case series and case reports. In our case, the administration of infliximab-in an attempt to salvage the function of β-cells-was not successful, and this is in contrast to some previous reports. This apparent discrepancy may be explained by the absence of insulin resistance in our case. There is so far no evidence for immunosuppressive treatment in this situation. Prompt recognition and immediate start of insulin treatment are most important in its management.
Pneumocystis jirovecii Pneumonia in a Patient With Localized Mycosis Fungoides Not Receiving Immunosuppressive Treatment
Authors: Ryohei Kudoh, Kosaku Komiya, Ryuichiro Takaki, Atsushi Yokoyama, Kazufumi Hiramatsu, Jun-Ichi Kadota
Journal: Cureus (2024)
Keywords: cutaneous t-cell lymphoma, cytomegalovirus, immunosuppression, mycosis fungoides, pneumocystis jirovecii pneumonia
MeSH terms: Case Reports

Pneumocystis jirovecii pneumonia (PCP) is the most common opportunistic infection in patients with human immunodeficiency virus (HIV), but it may develop in patients without HIV, whose immune system is suppressed by anticancer or immunosuppressive agents even when indicating normal counts of CD4+ T cells. Mycosis fungoides (MF) is a primary cutaneous T-cell lymphoma, which is believed not to cause immunosuppressive conditions unless it develops leukosis or metastasis or is treated with anticancer drugs or systemic immunosuppressants. Here, we report a case of PCP in a patient with localized MF not receiving immunosuppressive treatment. The patient, a woman in her 70s, presented with persistent dyspnea. High-resolution computed tomography (HRCT) showed diffuse ground-glass opacities in both lungs. Bronchoalveolar lavage fluid was positive for P. jirovecii. Moreover, the cytomegalovirus antigenemia test was positive, whereas tests for anti-HIV and antihuman T-cell lymphotropic virus antibodies were negative. The patient was treated with trimethoprim-sulfamethoxazole, prednisolone, and ganciclovir, which gradually improved the symptoms and diminished diffuse ground-glass opacities on HRCT. This case exemplifies a rare presentation of PCP with mild MF that was not treated with chemotherapy or immunosuppressants. The possible mechanisms for the development of PCP are discussed.
Changes in real-world dispensing of ADHD stimulants in youth from 2019 to 2021 in California
Authors: Anika Patel, Rishikesh Chavan, Cyril Rakovski, Richard Beuttler, Sun Yang
Journal: Front Public Health (2024)
Keywords: adhd, controlled substances, disparities, pandemic, pediatric, socioeconomic impact, stimulants, youth
MeSH terms: Attention Deficit Disorder with Hyperactivity / drug therapy, Attention Deficit Disorder with Hyperactivity / epidemiology, Central Nervous System Stimulants / therapeutic use, Research Support, Non-U.S. Gov't, Adolescent, Adult, California / epidemiology, Child, Controlled Substances, Female, Humans, Young Adult, Controlled Substances, Central Nervous System Stimulants

Introduction:
Attention-deficit/hyperactivity disorder (ADHD) is one of the most common pediatric neurobehavioral disorders in the U.S. Stimulants, classified as controlled substances, are commonly used for ADHD management. We conducted an analysis of real-world stimulants dispensing data to evaluate the pandemic's impact on young patients (≤ 26 years) in California.
Methods:
Annual prevalence of patients on stimulants per capita across various California counties from 2019 and 2021 were analyzed and further compared across different years, sexes, and age groups. New patients initiating simulants therapy were also examined. A case study was conducted to determine the impact of socioeconomic status on patient prevalence within different quintiles in Los Angeles County using patient zip codes. Logistic regression analysis using R Project was employed to determine demographic factors associated with concurrent use of stimulants with other controlled substances.
Results:
There was a notable reduction in prevalence of patients ≤26 years old on stimulants during and after the pandemic per 100,000 people (777 in 2019; 743 in 2020; 751 in 2021). These decreases were more evident among the elementary and adolescent age groups. The most prevalent age group on stimulants were adolescents (12-17 years) irrespective of the pandemic. A significant rise in the number of female patients using stimulants was observed, increasing from 107,957 (35.2%) in 2019 to 121,241 (41.1%) in 2021. New patients initiating stimulants rose from 102,754 in 2020 to 106,660 in 2021, with 33.2% being young adults. In Los Angeles County, there was an increasing trend in patient prevalence from Q1 to Q5 income quintiles among patients ≥6 years. Consistently each year, the highest average income quintile exhibited the highest per capita prevalence. Age was associated with higher risk of concurrent use of benzodiazepines (OR, 1.198 [95% CI, 1.195-1.201], p < 0.0001) and opioids (OR, 1.132 [95% CI, 1.130-1.134], p < 0.0001) with stimulants.
Discussion:
Our study provides real-world information on dispensing of ADHD stimulants in California youth from 2019 to 2021. The results underscore the importance of optimizing evidence-based ADHD management in pediatric patients and young adults to mitigate disparities in the use of stimulants.
Diverse retinal-kidney phenotypes associated with NPHP1 homozygous whole-gene deletions in patients with kidney failure
Authors: Gavin Esson, Ian Logan, Katrina Wood, Andrew C Browning, John A Sayer
Journal: J Rare Dis (Berlin) (2024)
Keywords: disease, kidney failure, nphp1 homozygous deletion, nephronophthisis, retinal dystrophy, senior-løken syndrome
MeSH terms: Case Reports

A precise diagnosis in medicine allows appropriate disease-specific management. Kidney failure of unknown aetiology remains a frequent diagnostic label within the haemodialysis unit and kidney transplant clinic, accounting for 15-20% of these patients. Approximately 10% of such cases may have an underlying monogenic cause of kidney failure. Modern genetic approaches can provide a precise diagnosis for patients and their families. A search for extra-renal disease manifestations is also important as this may point to a specific genetic diagnosis. Here, we present two patients where molecular genetic testing was performed because of kidney failure of unknown aetiology and associated retinal phenotypes. The first patient reached kidney failure at 16 years of age but only presented with a retinal phenotype at 59 years of age and was found to have evidence of rod-cone dystrophy. The second patient presented with childhood kidney failure at the age of 15 years and developed visual difficulties and photophobia at the age of 32 years and was diagnosed with cone dystrophy. In both cases, genetic tests were performed which revealed a homozygous whole-gene deletion of NPHP1-encoding nephrocystin-1, providing the unifying diagnosis of Senior-Løken syndrome type 1. We conclude that reviewing kidney and extra-renal phenotypes together with targeted genetic testing was informative in these cases of kidney failure of unknown aetiology and associated retinal phenotypes. The involvement of an interdisciplinary team is advisable when managing such patients and allows referral to other relevant specialities. The long time lag and lack of diagnostic clarity and clinical evaluation in our cases should encourage genetic investigations for every young patient with unexplained kidney failure. For these and similar patients, a more timely genetic diagnosis would allow for improved management, a risk assessment of kidney disease in relatives, and the earlier identification of extra-renal disease manifestations.
Supplementary information:
The online version contains supplementary material available at 10.1007/s44162-024-00031-4.
Management of allergic rhinitis improves clinical outcomes of difficult-to-treat tic disorders or attention-deficit/hyperactivity disorders
Authors: Rui-Li Yu, Jing Wang, Xue-Song Wang, Hong-Tian Wang, Xue-Yan Wang
Journal: Allergol Select (2023)
Keywords: yale comprehensive tic severity scale (ygtss), allergic rhinitis, attention- deficit/hyperactivity disorder (adhd), tic disorder

Aims:
This case series aimed to evaluate the effects of treatment for allergic rhinitis (AR) in AR-diagnosed children with previous diagnosis of tic disorders/attention-deficit/hyperactivity disorders (TD/ADHD) but unresponsive to behavioral or medical treatment.
Materials and methods:
Between July 2016 and June 2021, children diagnosed with AR in our hospital were enrolled. All were diagnosed with TD/ADHD refractory to behavioral or medical treatment. The demography and clinical information were collected from medical records. The outcomes were visual analogue scale (VAS) for AR severity, Yale Comprehensive Tic Severity Scale (YGTSS) for TD symptoms, and Attention-Deficit Hyperactivity Screening Scale (SNAP-IV) for ADHD symptoms.
Results:
A total of 27 children (18 boys, 9 girls) were included, with a mean age 7.4 ± 2.9 years (3 - 17 years). They had undergone behavioral or medical treatment of TD/ADHD for 3.6 ± 1.9 years but without significant improvement in TD/ADHD symptoms. After 2-6 months of systematic treatment for AR, VAS was decreased to 0.4 ± 0.1 from 0.8 ± 0.2, YGTSS to 3.5 ± 0.7 from 6.8 ± 1.4, and SNAP-IV to 0.4 ± 0.1 from 0.6 ± 0.2 (all p < 0.001). No recurrence of TD/ADHD symptoms was reported during a mean follow-up of 2.4 ± 1.1 years (0.5 - 5 years).
Conclusion:
AR treatment improves TD/ADHD outcomes in children with difficult-to-treat TD/ADHD. In TD/ADHD children who are unresponsive to behavioral or drug treatment and have AR-related symptoms, AR examination and treatment are recommended for better prognosis.