OpenMed/multicare-articles huggingface dataset:
A Severe Case of Overlap of Morphea and Eosinophilic Fasciitis after Burn Injuries
Authors: Hania Sami, Faria Sami, Shahzad Ahmed Sami, Abdulqadir J Nashwan
Journal: Case Rep Rheumatol (2024)
MeSH terms: Case Reports

Background:
Generalized morphea is a rare fibrosing skin illness that progresses from erythematous, violet-colored skin patches to sclerotic plaques. Another uncommon immune-mediated connective tissue disease called eosinophilic fasciitis (EF) evolves to cause sclerosis and woody skin induration. The coexistence of the two is extremely rare and has a poorer prognosis. Our case report is one of the first to report burn injuries as a trigger factor for EF and generalized morphea overlap. Case Presentation. A 36-year-old man presented with acute onset of rapidly progressing skin thickening, tender edema, and skin contractures involving all extremities, shortly after enduring burn injuries from a gasoline explosion. Workup was remarkable for peripheral eosinophilia, hypergammaglobulinemia, and elevated C-reactive protein. Skin biopsy demonstrated sclerodermoid changes and sclerotic thickening of subcutaneous fibrous septa associated with stromal mucin, dermal perivascular, diffuse lymphoplasmacytic infiltrate with eosinophils, decreased CD34 expression, and increased factor XIIIa. He was subsequently diagnosed with an overlap of generalized morphea and eosinophilic fasciitis. The patient had only limited improvement with steroids, methotrexate, mycophenolate mofetil, and intralesional triamcinolone acetonide injections.
Conclusion:
Generalized morphea with concomitant EF indicates some degree of therapeutic resistance and poor prognosis with a low quality of life. Burn injuries can be a trigger factor for this overlap syndrome. Prompt identification of at-risk individuals and initiating aggressive management are necessary.
Case report: Use of granulocyte-colony stimulating factor as an immunomodulatory therapy in a patient with neuromyelitis optica spectrum disorder and comorbid immunodeficiency
Authors: Gina S Perez Giraldo, Edith L Graham, Stephen VanHaerents, Roumen Balabanov
Journal: Front Neurol (2023)
Keywords: autoimmunity, granulocyte-colony stimulating factor, immunodeficiency, immunomodulation, neuromyelitis optica spectrum disorder
MeSH terms: Case Reports

Background:
Autoimmune diseases can coexist with immunodeficiency. We describe a treatment approach in which granulocyte-colony stimulating factor (G-CSF) is used to restore immune competence without worsening autoimmunity. G-CSF is a polyfunctional cytokine that influences survival, proliferation, and differentiation of hematopoietic stem cells, and has immunomodulatory effects on the innate and adaptive immune systems.
Objective:
To report a case of neuromyelitis optica spectrum disorder (NMOSD) with comorbid immunodeficiency and frequent infections.
Methods:
Case report and review of literature.
Results:
A 23 years-old man presented with a focal onset seizure with impaired awareness at age 12. At age 18, he developed headaches, recurrent multifocal seizures, and non-convulsive status epilepticus. Brain magnetic resonance imaging (MRI) showed extensive T2 hyperintense and gadolinium-enhancing periventricular and corpus callosum lesions. Serum aquaporin 4 antibody was positive 1:10,000 (normal value <1.5 titer), hence he was diagnosed with NMOSD. As a complication, patient developed mucormycotic pneumonia with cavitation, requiring thoracotomy precluding use of immunosuppressants. Gene testing demonstrated a mutation in MT-ND4 gene encoding for NADH dehydrogenase 4 in mitochondrial complex 1. Eventually, he began a treatment with filgrastim, a G-CSF analog, in addition to intravenous immunoglobulins and prednisone. Patient's NMOSD has been in remission without relapses, or coexistent infections ever since.
Conclusion:
G-CSF is a polyfunctional cytokine with important immunomodulatory effects, which makes it an interesting therapeutic option when autoimmunity coexists with immunodeficiency and was used successfully in this case.
Treatment of rosacea with upadacitinib and abrocitinib: case report and review of evidence for Janus kinase inhibition in rosacea
Authors: Ting Zhang, Xu Liu, Lu Zhang, Xian Jiang
Journal: Front Immunol (2024)
Keywords: jak inhibitor, abrocitinib, case report, rosacea, upadacitinib
MeSH terms: Heterocyclic Compounds, 3-Ring / therapeutic use, Janus Kinase Inhibitors / therapeutic use, Rosacea / drug therapy, Case Reports, Review, Adult, Female, Humans, Janus Kinase 1 / antagonists & inhibitors, Male, Middle Aged, Pyrimidines / adverse effects, Pyrimidines / therapeutic use, Sulfonamides / therapeutic use, Treatment Outcome, upadacitinib, Heterocyclic Compounds, 3-Ring, Janus Kinase Inhibitors, abrocitinib, Pyrimidines, Sulfonamides, Janus Kinase 1

Introduction:
Conventional rosacea treatments are not uniformly pervasive, and the adverse reactions can potentially constrain their utility. The clinical use of JAK1 inhibitors upadacitinib and abrocitinib in the treatment of refractory rosacea has rarely been explored.
Case report:
We presented two cases of patients who received the JAK1 inhibitor upadacitinib and four cases of patients who received the JAK1 inhibitor abrocitinib for the treatment of refractory rosacea.
Discussion:
The JAK1 inhibitors upadacitinib and abrocitinib may be promising medical options for patients with refractory rosacea. However, the long-term safety and efficacy of upadacitinib and abrocitinib require prospective controlled studies to assess them more comprehensively.
Case report: Clinical efficacy of deep brain stimulation contacts corresponds to local field potential signals in a patient with obsessive-compulsive disorder
Authors: Korrina A Duffy, Elizabeth A Fenstermacher, John A Thompson, Jody Tanabe, Moksha S Patel, Steven Ojemann, Rachel A Davis
Journal: Front Psychiatry (2023)
Keywords: bnst, dbs, ocd, biomarker, brain sensing, neuromodulation, psychiatric neurosurgery, ventral striatum
MeSH terms: Case Reports

Introduction:
Deep brain stimulation (DBS) is often effective in treating severe obsessive-compulsive disorder (OCD) when traditional therapeutic approaches have failed. However, optimizing DBS programming is a time-consuming process. Recent research in movement disorders suggests that local field potentials can dramatically speed up the process of identifying the optimal contacts for stimulation, but this has not yet been tested in a patient with OCD.
Methods:
In a patient with severe OCD, we first determined the optimal contact for stimulation for each hemisphere using traditional monopolar and bipolar review and then tested whether the clinically optimal contact in each hemisphere corresponded to local field potential signals.
Results:
Overall, we found that clinical efficacy corresponded with the contacts that showed the strongest local field potential signals across multiple frequency bands.
Discussion:
Our findings are the first indication that local field potentials could guide contact selection in patients with OCD. If validated in a larger sample, this methodology could decrease time to clinical benefit and improve accuracy in patients that are difficult to assess using traditional methods. Further research is needed to determine whether local field potentials could be used to guide finer resolution in programming parameters.
Retinal arterial-venous pulse delay: a new specific marker for a carotid-cavernous fistula
Authors: Edward F Linton, Thomas R Tedeschi, Noor-Us-Sabah Ahmad, Jui-Kai Wang, Randy H Kardon
Journal: Front Ophthalmol (Lausanne) (2023)
Keywords: carotid cavernous fistula, laser speckle flowgraphy, non-invasive diagnostics, ocular blood flow, retinal arterial-venous pulse delay

Purpose:
The purpose of the study was to describe ocular blood flow changes in eyes affected by a carotid-cavernous fistula (CCF) using laser speckle flowgraphy. We hypothesized that imaging blood flow velocity waveforms in the retinal arterioles and venules simultaneously would reveal specific characteristics of an arteriovenous (AV) connection.
Design:
The study was an observational case series, with a retrospective case-control analysis.
Methods:
Five patients with a CCF underwent measurement of ocular blood flow using laser speckle flowgraphy. The blood flow was compared retrospectively between a control group of healthy subjects (n = 32) and patients with an elevated intraocular pressure or venous outflow impairment without an AV fistula (n = 40). The outcomes were derived from the arteriole and venule blood flow velocity waveforms, including an A-V phase delay and flow pulsatility.
Results:
The presence of an active CCF was associated with an increased delay in the peak velocity measured in the retinal venule (10.7% ± 2.2% of the cardiac cycle duration) compared with unaffected fellow eyes (1.8% ± 0.2%; p = 0.05) or control eyes of normal subjects (2.7% ± 0.3%; p = 0.02). This delay disappeared after fistula thrombosis and was not present in eyes with a central retinal vein occlusion (CRVO), glaucoma, non-arteritic anterior ischemic optic neuropathy (NAION), or papilledema. The venule blood flow velocity decreased during systole (and in some cases momentarily stopped), leading to a delayed pulse with a greater amplitude in the venules than in fellow eyes and normal controls after normalizing to the arteriole amplitude (1.71 ± 0.3 vs 0.54 ± 0.03 vs 0.59 ± 0.02; p = 8.0E-12). This specific AV delay could also be identified in a scanning laser ophthalmoscope (SLO; SPECTRALIS®) video.
Conclusion:
Laser speckle flowgraphy reveals dynamic retinal vascular changes in eyes affected by a CCF, which are not present in healthy controls or patients with other eye conditions, and which reverses with treatment.
Oxidative stress affects sperm health and fertility-Time to apply facts learned at the bench to help the patient: Lessons for busy clinicians
Authors: Pallav Sengupta, Germar-M Pinggera, Aldo E Calogero, Ashok Agarwal
Journal: Reprod Med Biol (2024)
Keywords: male infertility, oxidative stress, reactive oxygen species, sperm dna fragmentation, sperm motility
MeSH terms: Review

Background:
Increased oxidative stress (OS), resulting from the delicate balance between reactive oxygen species (ROS) production and antioxidant defense, is closely linked to sperm abnormalities and male subfertility. Elevated ROS levels particularly affect sperm quality. The vulnerability of spermatozoa to ROS is due to the absence of DNA repair mechanisms and the high presence of polyunsaturated fatty acids in their membranes.
Methods:
This article updates and advances our understanding of the molecular damage caused by OS in spermatozoa, including lipid peroxidation, DNA damage, motility, and functionality. Additionally, the review discusses the challenges in diagnosing OS in semen and recommends accurate and sensitive testing methods. Case studies are utilized to demonstrate the effective management of male infertility caused by OS.
Main findings:
Highlighting the need to bridge the gap between research and clinical practice, this review suggests strategies for clinicians, such as lifestyle and dietary changes and antioxidant therapies. The review emphasizes lifestyle modifications and personalized care as effective strategies in managing male infertility caused by OS.
Conclusion:
This review calls for early detection and intervention and interdisciplinary collaboration to improve patient care in male infertility cases related to increased OS.
Xanthogranulomatous pyelonephritis in a patient with polycystic kidney disease without underlying risk factors: a case report
Authors: Yoomee Kang, Tae Won Lee, Eunjin Bae, Ha Nee Jang, Sehyun Jung, Seunghye Lee, Se-Ho Chang, Dong Jun Park
Journal: Front Med (Lausanne) (2024)
Keywords: abdominal pain, fever, polycystic kidney disease, renal mass, xanthogranulomatous pyelonephritis
MeSH terms: Case Reports

Xanthogranulomatous pyelonephritis (XGP) is an extremely rare, chronic granulomatous inflammatory condition thought to arise secondary to a combination of obstruction, recurrent bacterial infection and an incomplete immune response although the etiology of XGP is more complex. We would like to report a case of XGP occurring in a patient with polycystic kidney disease (PCKD), which has not been previously documented in etiology. A 29-year-old woman presented to our hospital with right upper quadrant pain for 5 days. She had experienced a low-grade fever, generalized weakness, and myalgia throughout her body for 2 weeks. She had no history of renal stones or recurrent UTIs. Contrast-enhanced CT revealed a well-enhancing large septated cystic mass in the right kidney and numerous cysts in the liver and both kidneys. Open right radical nephrectomy was performed due to the suspicion of renal cell carcinoma, as there was no response to antibiotics over 7 days. Gross specimen demonstrated architectural distortion due to xanthomatous nodules and a dilated pelvico-calyceal system filled with pus and blood. Microscopic examination revealed infiltration of neutrophils and lipid-laden macrophages. The patient is currently being followed up in the outpatient clinic without recurrence of XGP. This is the first reported case of XGP in a patient with underlying PCKD. Physicians should consider PCKD as a potential underlying cause of XGP.
Case Report: When cystic fibrosis, elexacaftor/tezacaftor/ivacaftor therapy, and alpha1 antitrypsin deficiency get together
Authors: Rachel Kinuani, Jessica Ezri, Yann Kernen, Isabelle Rochat, Sylvain Blanchon
Journal: Front Pediatr (2024)
Keywords: cf liver disease, cftr modulator, elx/tez/iva, serpina1, z allele, children, cystic fibrosis, drug-induced liver injury
MeSH terms: Case Reports

In the last 10 years, the care of patients with cystic fibrosis (CF) has been revolutionized with the introduction of cystic fibrosis transmembrane conductance regulator (CFTR) modulator drugs, with a major impact on symptoms and life expectancy, especially considering the newest and highly effective elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) therapy. Conversely, adverse effects are relatively frequent, with some being life-threatening, such as severe hepatitis. Clinical trials on children starting CFTR modulators have reported transaminase elevations >3× upper limit of the norm in 10%-20% of patients, whereas real-life studies have reported discontinuation rates three times higher than those observed in phase 3 trials. We report the case of a 10-year-old boy with CF who developed severe acute hepatitis 2 weeks after starting ELX/TEZ/IVA therapy. An extensive screening for potential causes led to the identification of heterozygous alpha1-antitrypsin (AAT) deficiency with genotype MZ. The Z allele of SERPINA1 gene, encoding AAT, is known as a risk factor for CF liver disease. We hypothesized that it may act as a risk factor for drug-induced liver injury from CFTR modulators, notably ELX/TEZ/IVA. Therefore, checking AAT before starting CFTR modulator therapy can be suggested, in particular for children with previous, even transient, liver disease.
Hypersensitivity pneumonitis to phthalic anhydride: Case description and review of the literature
Authors: Vera van Kampen, Anja Theile, Andrea Tannapfel, Christian Eisenhawer, Thomas Brüning, Rolf Merget
Journal: Allergol Select (2024)
Keywords: antibodies, diagnosis, occupational hypersensitivity pneumonitis, phthalic anhydride, plastics
MeSH terms: Case Reports

Hypersensitivity pneumonitis (HP) is a rare, mostly occupational allergic disease of the lungs. There are many inhalable antigens that can cause HP. Most are organic dusts, rarely chemicals. A clinical case of HP is presented in a cable production worker with exposure to plasticizers who was initially diagnosed with idiopathic pulmonary fibrosis. The presence of specific IgG antibodies (sIgG) to phthalic anhydride in the patient's serum, together with reduced carbon monoxide diffusion capacity, hypoxemia at rest and on exertion, and the findings on computed tomography and histology, seemed to confirm the diagnosis of chronic HP due to phthalates, particularly as exposure to phthalate compounds at work was reported by the Technical Inspection Service. A review of the literature revealed that there is evidence of plasticizer alveolitis. While in four previous case reports phthalic anhydride was suspected as the cause of occupational HP because of work-related symptoms, we were able to detect sIgG to phthalic anhydride for the first time. This case illustrates that phthalates, which have rarely been described as triggers of HP, should be considered in cases of suspected occupational HP.
Neodymium Laser Treatment for Overactive Bladder and Vulvodynia in Mayer-Rokitansky-Küster-Hauser Syndrome Patient: A Case Report
Authors: Nobuo Okui, Tadashi Ikegami, C Tamer Erel
Journal: Cureus (2024)
Keywords: mayer-rokitansky-küster-hauser syndrome, neodymium yag laser therapy, overactive bladder, urinary urgency, vulvodynia
MeSH terms: Case Reports

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a condition that affects a small proportion of female individuals at birth, resulting in the absence or underdevelopment of reproductive organs. However, this case report introduces overactive bladder (OAB) and vulvodynia, conditions that have not been previously reported in MRKH patients. The 36-year-old patient began developing breast tissue around the age of 12 but never experienced menstruation. Simultaneously, she started experiencing discomfort in the genital region and frequent urination. These symptoms gradually worsened, making it difficult for her to continue her education, and initially, she was misdiagnosed with a developmental disorder. Typically, the general understanding of MRKH syndrome has focused on reproductive anomalies, but this case underscores its diversity. Diagnostic assessments, including ultrasound, MRI, and various tests, revealed that the patient's severe genital discomfort and urinary symptoms were improved through a specialized Neodymium YAG laser therapy named "PIANO mode," resulting in significant symptom relief and improved quality of life. This report emphasizes the importance of comprehensive and individualized approaches to managing MRKH syndrome. It aims to raise awareness that MRKH syndrome, while often associated with reproductive abnormalities, can also involve related symptoms like OAB and vulvodynia, which can significantly impact daily life.
A Case of Ruptured Exophytic Uterine Artery Pseudoaneurysm without Specific Risk Factors That Manifested Seven Days after Vaginal Delivery
Authors: Masatake Toshimitsu, Takayuki Iriyama, Jiro Sato, Osamu Abe, Mari Ichinose, Seisuke Sayama, Takahiro Seyama, Kenbun Sone, Keiichi Kumasawa, Yutaka Osuga
Journal: Case Rep Obstet Gynecol (2023)
MeSH terms: Case Reports

A uterine artery pseudoaneurysm (UAP) is a life-threatening complication during pregnancy and postpartum. Early diagnosis of exophytic UAP rupture is difficult due to the absence of vaginal bleeding. This study reports the case of a 31-year-old postpartum woman who presented with abdominal pain and fever seven days after vaginal delivery, without symptoms of maternal shock. Ultrasonography revealed a ruptured exophytic UAP with hemoperitoneum, which was confirmed using computed tomography. Interventional radiology confirmed that the site of the pseudoaneurysm was at the level of the uterine artery bifurcation, and embolization was performed immediately after diagnosis using a coil and n-butyl-2-cyanoacrylate. The patient's symptoms were relieved, and she was discharged 12 days after the embolization. At eight months postpartum, the UAP was not visible on transvaginal ultrasonography. Exophytic UAP can occur even in the absence of specific risk factors such as cesarean section or endometriosis, and the UAP may not necessarily rupture immediately after delivery. Obstetricians must remain aware of the possibility of exophytic UAP rupture manifesting as abdominal pain with postpartum fever, rather than as unstable vital signs. This is the first report of an exophytic UAP that occurred at the level of the uterine artery bifurcation. Identification of the sites where exophytic UAP can occur can aid in the early diagnosis of the condition.
Bilateral Testicular Torsion in Bilateral Polyorchidism-A Case Report
Authors: Breno Lanter Cardoso, Bruno Roberto da Silva Ferreira, Élcio Dias Silva, Anuar Ibrahim Mitre
Journal: Case Rep Urol (2024)
MeSH terms: Case Reports

A 17-year-old patient with acute testicular pain had no blood flow observed on scrotal ultrasound Doppler on either side, suggestive of bilateral torsion. The patient underwent immediate scrotal surgical exploration, and a numerical anomaly was observed during surgery-there were two testicles on each side, and all four exhibited torsion. After detorsion, circulation was recovered, and three of four testicles were kept. One dystrophic testis was removed.
Atypical Psuedo-Demons-Meigs Syndrome Presenting As Acute Dyspnoea With Pseudomembranous Colitis
Authors: Sanjeev G Gianchandani Gyani, Meenakshi Yeola, Resha O Keshwani, Sachin G Gianchandani, Pankaj Katariya
Journal: Cureus (2024)
Keywords: ascites, atypical pseudo-meigs syndrome, demons-meigs syndrome, granulosa theca cell tumour, hydrothorax, meigs syndrome, ovarian mass
MeSH terms: Case Reports

Demons-Meigs syndrome is a rare clinical presentation of benign ovarian mass with hydrothorax and ascites. As ascites can be present in any ovarian mass, hydrothorax is a salient feature of the syndrome. The syndrome is subtyped as atypical in the absence of ascites from the triad. Nevertheless, it is labeled as pseudo-Demons-Meigs syndrome if the ovarian tumor is neoplastic rather than benign. The management of Demons-Meigs syndrome is complex and could be misleading due to pleural effusion and ascites, so an understanding of the syndrome is important. This case report is unique as it has two rare findings of neoplastic tumor and absence of ascites. Furthermore, this case is distinct as both ovaries are involved in malignant granulosa theca cell tumor with right-sided pleural effusion without ascites.