OpenMed/multicare-articles huggingface dataset:
Vasculitis in Systemic Autoinflammatory Diseases
Authors: Selcan Demir, Erdal Sag, Fatma Dedeoglu, Seza Ozen
Journal: Front Pediatr (2018)
Keywords: behcet disease, autoinflammatory diseases, inflammasomopathies, interferonopathies, relopathies, vasculitis
MeSH terms: Review

Autoinflammatory diseases (AID) are diseases of the innate immune system, characterized by recurrent episodes of localized or systemic inflammation. Vasculitis may accompany AID. The causes of the association of vasculitis with monogenic AID are still debated. Among the monogenic AID, Familial Mediterranean Fever (FMF) is the most common. IgA-related vasculitis (IgAV) and Polyarteritis Nodosa (PAN) involving small and/or medium-sized vessels have an increased frequency among FMF patients. There are also case reports revealing vasculitic features in Cryopyrin-Associated Periodic Fever Syndrome (CAPS), Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS), Mevalonate Kinase Deficiency (MKD), also known as Hyper IgD syndrome (HIDS), Deficiency of IL-1 Receptor Antagonist (DIRA) and Pyogenic Arthritis, Pyoderma gangrenosum, and Acne (PAPA) patients. Central nervous system vasculitis and vasculopathy have been reported in DIRA and PAPA patients whereas small vessel involvement affecting skin has been reported in CAPS, TRAPS, and MKD patients. Alternatively, vasculitis can also be a leading feature especially in the recently defined monogenic AID (Otulipenia, Deficiency of Adenosine Deaminase 2-DADA2, Haploinsufficiency of A20) and interferonopathies (STING-associated vasculopathy with onset in infancy-SAVI). DADA2 often presents as a PAN-like disease. In otulipenia, patients have painful subcutaneous nodules caused by septal panniculitis with small and medium vessel vasculitis. Haploinsufficiency of A20 (also called Familial Behcet-like Autoinflammatory Syndrome) results in a phenotype very similar to the variable vessel vasculitis of Behcet's disease with recurrent oral-genital ulcers, in addition to, skin rash, uveitis, and polyarthritis. SAVI is an autoinflammatory vasculopathy with increased Interferon (IFN) signature, causing severe skin lesions resulting in ulceration, necrosis, and in some cases, amputation. Behcet's Disease (BD) is a multifactorial polygenic AID characterized by recurrent attacks of oral-genital ulcers, skin lesions, uveitis and a unique vasculitis affecting both arteries and veins of all sizes. Many clinical features overlap with other autoinflammatory diseases and overexpression of proinflammatory cytokines is an important feature of the disease.
Baló Concentric Sclerosis
Authors: Kelly Di Dier, Marc Lemmerling
Journal: J Belg Soc Radiol (2022)
Keywords: mri, concentric sclerosis, demyelinating disease, multiple sclerosis, neuroradiology
MeSH terms: Case Reports

Teaching Point: Baló concentric sclerosis is a rare subtype of multiple sclerosis, characterized by a concentric layered mass on magnetic resonance imaging.
Quality improvement opportunities in caring for patients with nonepileptic seizures
Authors: Jasper J Chen, Devendra S Thakur, Krzysztof A Bujarski, Barbara C Jobst, Erik J Kobylarz, Vijay M Thadani
Journal: Case Rep Psychiatry (2014)

Background. Patients with nonepileptic seizures (NES) are challenging to treat for myriad reasons. Often patients may be misdiagnosed with having epilepsy and then may suffer unintended consequences of treatment side effects with antiepileptic medication. In addition, patients may be maligned by health care providers due to a lack of ownership by both psychiatrists and neurologists and a dearth of dedicated professionals who are able to effectively treat and reduce severity and frequency of symptoms. Aims of Case Report. Many psychiatrists and neurologists are unaware of the extent of the barriers to care faced by patients with NES (PWNES) and the degree of perception of maltreatment or lack of therapeutic alliance at various stages of their care, including medical workup, video-EEG monitoring, and follow-up plans. We present the case of a patient with NES who experienced numerous barriers as well as incoordination to her care despite being offered a breadth of resources and discuss the quality improvement opportunities that may exist to improve care of patients with NES. Conclusion. No known literature has documented the extensive barriers to care of PWNES in parallel to quality improvement opportunities for improving their care. We endeavor to contribute to the overall formulation and development of a clinical care pathway for PWNES.
Kawasaki Disease: Unusual Presentation with Retropharyngeal Involvement
Authors: Chiara Zeroli, Armela Gorica, Giulia Claire D'Aleo Canova, Monica Caruso, Paolo Castelnuovo, Francesca De Bernardi
Journal: Case Rep Pediatr (2023)
MeSH terms: Case Reports

Background:
Kawasaki disease is an acute febrile generalized vasculitic syndrome of childhood of unknown ethology. The most severe complication may involve the hearth and include acute myocarditis with hearth failure, arrythmia, and coronary artery aneurism. The typical clinical symptoms are fever, conjunctivitis, rash, cervical lymphadenopathy, and mucocutaneous changes, and the diagnosis is made by the clinical criteria. Early use of aspirin and immunoglobuline improves symptoms and prevent heart complications. Case Presentation. A 4-year-old male presented to our attention for multiple unilateral laterocervical lymphadenopathies, odynophagia, and neck stiffness, initially treated with IV antibiotic therapy with partial resolution of symptoms. After four months he made a new ER access for cervicalgia, tonsils asymmetry, trismus, stiff neck, lameness, and phalanx hyperaemia and increase in the size of cervical lymph nodes. Radiology showed increase of lymphnodes dimension and retropharyngeal space asymmetry. The same day heart murmur appeared, so the patient underwent cardiological evaluation that documented dilation of the coronary arteries. This sign made it possible to place the diagnostic suspicion of Kawasaki disease and to start IV immunoglobulins and acetylsalicylic acid administration with prompt response.
Conclusions:
Kawasaki disease presents with a range of symptoms which, taken individually, are very common in childhood. One of these symptoms is represented by the swollen of neck lymph nodes. It is only clinical reasoning that leads to the correct diagnosis, and therefore, to the correct setting of the therapy, reducing the risk of complications.
Testicular ischemia associated with IgA vasculitis in a child: a case report and literature review
Authors: Shuya Zhang, Qingwen Wang, Ziwei Li, Qingyin Guo
Journal: Front Pediatr (2023)
Keywords: henoch–schönlein purpura, iga vasculitis, case report, children, epididymo-orchitis, literature review, testicular ischemia, testicular necrosis
MeSH terms: Case Reports

Testicular necrosis is a rare and severe complication of immunoglobulin A (IgA) vasculitis (IgAV). Herein, We report a case of a 10-year-old boy who was admitted to the hospital due to skin purpura and intermittent abdominal pain for 10 days and bilateral testicular pain for 2 days. Scrotal ultrasonography indicated right testicle ischemia, right epididymo-orchitis, and bilateral hydrocele of the testis. Scrotal surgical exploration revealed significant swelling and darkening of the right testicle. Conservative treatment led to improvement in his condition, and he was discharged. During 3 months of follow-up, there was no recurrence of skin purpura or pain, and the urine tests were normal. Color ultrasound indicated only partial blood flow signal to the right testicle tissue, which was slightly smaller than the left testicle. This case highlights the need for continuous attention from clinicians to the signs and symptoms of the reproductive system during the diagnosis and treatment of IgAV. Continuous monitoring with ultrasound can aid in early detection, diagnosis, and treatment of reproductive system lesions of IgA vasculitis.
Lymphomatoid Papulosis Type A: A Case Report of the "Wait-and-See Strategy" in a 27-Year-Old Male Patient with Extensive Disease
Authors: Eirini Kavvalou, Maria Stefanidou, Sabine Elke Krueger-Krasagakis, George Evangelou, Dimitra Koumaki, Leonidas Marinos, Maria Tzardi, Konstantinos Krasagakis
Journal: Case Rep Dermatol Med (2019)
MeSH terms: Case Reports

This is the case of a 27-year-old male patient with a newly diagnosed extensive lymphomatoid papulosis type A involving cosmetically sensitive areas (e.g. face), who refused to be treated with a low dose of methotrexate, as recommended by the published literature. The natural course of the disease was proved to be strikingly satisfying though, with a complete regression of all skin lesions at the 4-week follow-up, including an ulcerated nodule 3 x 3 cm in dimension, which was expected to heal at least in months. We report this case to reconsider weighting the risks and the short-term benefits of methotrexate treatment, even in the case of an extensive disease.
Treatment of parvovirus B19 viremia to facilitate kidney transplantation in a patient with collapsing glomerulopathy
Authors: Vinay Nair, Nicholas Jandovitz, Kenar D Jhaveri, David Hirschwerk, Elliot Grodstein, Vanesa Bijol, Ernesto Molmenti, Lewis Teperman
Journal: Clin Nephrol Case Stud (2020)
Keywords: cidofovir, collapsing glomerulopathy, kidney transplantation, parvovirus b19
MeSH terms: Case Reports

Collapsing glomerulopathy (CG) is a severe form of glomerulopathy which results in nephrotic syndrome and often ensues in rapid progression to end-stage kidney disease (ESKD). Although most commonly a result of HIV infection, other conditions such as parvovirus B19 (PB19) infection have been associated with CG. We present a case of an 18-year-old male with CG associated with PB19 infection who was heterozygous for APOL1 G1 and G2 genetic variants. In an attempt to treat, he was started on intravenous immunoglobulin (IVIg), however rapidly progressed to ESKD. During workup for a living donor kidney transplant he was found to have persistent low-grade PB19 viremia. Despite having no major immunodeficiency and given subsequent courses of IVIg, viremia continued to persist. In a final attempt to eradicate the PB19 we began treatment with cidofovir, an antiviral agent with in vitro efficacy against PB19. Subsequent to initiation of cidofovir, PB19 viremia slowly cleared after which he received a living unrelated kidney transplant. The patient had an early cellular rejection treated with rabbit antithymocyte globulin after which he recovered kidney function without signs of recurrent CG. Our case report suggests efficacy of IVIg and cidofovir for persistent PB19 infection in ESKD to allow subsequent transplantation, while minimizing the risk of recurrent CG.
Peritoneal carcinomatosis of unknown primary site may be an undiagnosed appendiceal adenocarcinoma. A case series
Authors: Paul H Sugarbaker
Journal: Int J Surg Case Rep (2019)
Keywords: case series, cytoreductive srugery, hipec, intraperitoneal chemotherapy, meckel’s diverticulum, peritoneal metastases, small bowel adenocarcinoma, urachal adenocarcinoma

Background:
Peritoneal carcinomatosis is sometimes diagnosed by cytology or by biopsy, but routine radiologic and endoscopic workup may not reveal a primary site. This clinical condition is called adenocarcinoma of unknown primary site.
Methods:
The clinical findings of two patients with adenocarcinoma of unknown primary site were presented and the implications for management of similar patients were suggested.
Results:
The patient had the diagnosis of adenocarcinoma of unknown primary site made when cancer was discovered at the time of umbilical hernia repair or laparoscopy. Radiologic and endoscopic tests were not definitive in providing the primary site for the malignancy. Exploratory laparotomy was performed which revealed an appendiceal mucinous adenocarcinoma as the cause of the peritoneal carcinomatosis. Cytoreductive surgery and hyperthermic intraperitoneal chemotherapy (HIPEC) were used at the time of the exploratory laparotomy to treat the appendiceal adenocarcinoma with peritoneal metastases.
Conclusions:
Peritoneal carcinomatosis of unknown primary site may be caused by an occult appendiceal adenocarcinoma. This error in diagnosis may lead to suboptimal treatment. Surgical exploration to visualize a normal appendix should occur prior to making a definitive diagnosis of peritoneal carcinomatosis of unknown primary site.
Free radial forearm adiposo-fascial flap for inferior maxillectomy defect reconstruction
Authors: Krishnakumar Thankappan, Nirav P Trivedi, Mohit Sharma, Moni A Kuriakose, Subramania Iyer
Journal: Indian J Plast Surg (2009)
MeSH terms: Case Reports

A free radial forearm fascial flap has been described for intraoral reconstruction. Adiposo-fascial flap harvesting involves few technical modifications from the conventional radial forearm fascio-cutaneous free flap harvesting. We report a case of inferior maxillectomy defect reconstruction in a 42-year-old male with a free radial forearm adiposo-fascial flap with good aesthetic and functional outcome with minimal primary and donor site morbidity. The technique of raising the flap and closing the donor site needs to be meticulous in order to achieve good cosmetic and functional outcome.
Neurosyphilis manifesting with unilateral visual loss and hyponatremia: a case report
Authors: Katrin Milger, Vera Fleig, Anke Kohlenberg, Thomas Discher, Jürgen Lohmeyer
Journal: BMC Infect Dis (2011)
MeSH terms: Hyponatremia / etiology, Neurosyphilis / complications, Vision Disorders / etiology, Case Reports, Antiviral Agents / therapeutic use, HIV-1 / isolation & purification, Hepacivirus / isolation & purification, Hepatitis B virus / isolation & purification, Humans, Hyponatremia / drug therapy, Hyponatremia / virology, Male, Middle Aged, Neurosyphilis / diagnosis, Neurosyphilis / drug therapy, Neurosyphilis / virology, Vision Disorders / drug therapy, Vision Disorders / virology, Antiviral Agents

Background:
Syphilis is called the chameleon of the diseases due to its variety of its clinical presentations, potentially affecting every organ of the body. Incidence of this ancient disease is once again on the increase worldwide.
Case presentation:
We here report an unusual case of neurosyphilis manifesting with unilateral visual loss and hyponatremia. The patient also had primary syphilitic lesions and was concomitantly diagnosed with Human Immunodeficiency Virus (HIV), Hepatitis B Virus (HBV) and Hepatitis C Virus (HCV) infection. Treatment with ceftriaxone and prednisolone, completely resolved the hyponatremia and visual acuity was partially restored.
Conclusion:
Awareness of syphilis as a differential diagnosis is important as previously unreported presentations of neurosyphilis can arise, especially in HIV infected patients.
Case Report and Preliminary Exploration: Protection of Supraclavicular Nerve Branches during Internal Fixation of Clavicular Fractures through Preoperative Ultrasound Localization
Authors: Yulin Wang, Jiapeng Huang, Jianjun Li, Jinfeng Zhou, Qiang Zheng, Zhixue Chen, Penghui Wei, Wenxi Tang
Journal: Front Surg (2022)
Keywords: case report, clavicle fracture, internal fixation, neuroprotection, supraclavicular nerve, ultrasound
MeSH terms: Case Reports

Introduction:
Protecting the supraclavicular nerve during internal fixation of clavicular fractures can reduce numbness in its innervation area after surgery. Previous methods for supraclavicular nerve protection are empirical, time-consuming, and approximate. In this report, we verified the feasibility of using ultrasound for percutaneous localization of the terminal branches of the supraclavicular nerve and the feasibility of an ultrasound-guided skin flap reserve technique for nerve protection.
Case presentations:
A high-frequency linear array probe was used in three cases to trace the supraclavicular nerve from its origin at the superficial cervical plexus on the surface of the clavicle. In the first case, the feasibility of percutaneous ultrasound localization of the terminal branches of the supraclavicular nerve was determined by performing an ultrasound-guided nerve block. In the second case, the feasibility of this method was determined by directly isolating this nerve under direct vision. In the third case, after the ultrasound localization, the nerves were protected by intraoperative skin retention. In the first case, skin anesthesia of the innervation area of the intermediate branch of the supraclavicular nerve was achieved. In the second case, the part of the nerve that crosses the surface of the clavicle was quickly found and successfully protected, and no obvious abnormal skin sensations were noted after the operation. In the third case, there was no abnormal sensation in most of the associated skin except for the innervation area of the lateral branch of the supraclavicular nerve.
Conclusions:
The medial and intermediate branches of the supraclavicular nerve could be located over the skin by ultrasound, and this could be helpful in quickly isolating these nerves intraoperatively. Retaining the corresponding skin can protect the function of these nerve branches and effectively reduce the area of skin numbness after surgery.
15q Duplication Syndrome: Report on the First Patient from Ecuador with an Unusual Clinical Presentation
Authors: Esteban Ortiz-Prado, Ana Lucía Iturralde, Katherine Simbaña-Rivera, Lenin Gómez-Barreno, Iván Hidalgo, Mario Rubio-Neira, Nicolás Espinosa, Juan Izquierdo-Condoy, María Emilia Arteaga-Espinosa, Alex Lister, Andrés López-Cortés, Alejandro Cabrera-Andrade
Journal: Case Rep Med (2021)
MeSH terms: Case Reports

Background:
The 15q11.1-13.1 duplication, also known as Dup15q syndrome, is a rare congenital disease affecting 1 in 30,000 to 1 in 60,000 children worldwide. This condition is characterized by the presence of at least one extra copy of genetical material within the Prader-Willi/Angelman Critical Region (PWACR) of the referred 15q11.2-q13.1 chromosome. Case Report. Our study presents the clinical and genetical features of the first patient with a denovo 15q11.2 interstitial duplication on the maternal allele (inv Dup15q) that mimics a milder Prader-Willi syndrome probably due to an atypical disruption of the SNHG14 gene. Methylation-specific MLPA analysis has confirmed the presence of a very unlikely duplication that lies between breakpoint 1 (BP1) and the middle of BP2 and BP3 (BP3). This atypical alteration might be linked to the milder patient's clinical phenotype.
Conclusions:
This is the first Dup15q patient reported in Ecuador and of the very few in South America. This aberration has never been described in a patient with Dup15q, and the unusual clinical presentation is probably due to the atypical distal breakpoint occurring within the gene SNHG14 which lies between BP2 and BP3 and does not therefore contain the whole PWACR. If the duplication disrupted the gene, then it is possible that it is the cause of, or contributing to, the patient's clinical phenotype.
Single Procedure Saline Lavage for Treatment of Inspissated Bile
Authors: Nafisa Sideeka, Raja Shaikh, Gulraiz Chaudry
Journal: Case Rep Radiol (2020)
MeSH terms: Case Reports

Inspissated bile syndrome is a rare cause of cholestatic jaundice in infancy, occurring due to obstruction of the biliary ducts and gallbladder by biliary sludge. Traditional methods of treatment include surgical drainage or cholecystostomy drain placement. Both can be associated with complications and prolonged admission. We present 2 cases treated with a single percutaneous needle puncture of the gallbladder followed by saline lavage. Two neonates presented with cholestatic jaundice and sonographic evidence of biliary sludge and dilation of the common bile duct. Single sonographic-guided needle puncture of the gallbladder was followed by irrigation with saline. Clearing of the biliary sludge was confirmed by sonography and cholecystocholangiography. There was resolution of the cholestatic jaundice, with no complications or repeat procedures.
Central Auditory Nervous System Stimulation through the Cochlear Implant Use and Its Behavioral Impacts: A Longitudinal Study of Case Series
Authors: Marina Isabel Cavalcanti, Liliane Aparecida Fagundes Silva, Maria Valéria Schmidt Goffi Gomez, Tsuji Robinson Koji, Ricardo Ferreira Bento, Ana Cláudia Martinho de Carvalho, Matas Carla Gentile
Journal: Case Rep Otolaryngol (2021)
MeSH terms: Case Reports

The purpose of this study was to investigate, over a period of five years, the cortical maturation of the central auditory pathways and its impacts on the auditory and oral language development of children with effective use and without effective use of a Cochlear Implant (CI). A case series study was conducted with seven children who were CI users and seven children with normal hearing, with age- and gender-matched to CI users. The assessment was performed by long-latency auditory evoked potentials and auditory and oral language behavioral protocols. The results pronounced P1 latency decrease in all CI users in the first nine months. Over five years, five children with effective CI use presented decrease or stabilization of P1 latency and a gradual development of auditory and oral language skills, although, for most of the children, the electrophysiological and behavior results remained poor than their hearing peers' results. Two children who stopped the effective use of CI after the first year of activation had worsened auditory and oral language behavioral skills and presented increased P1 latency. A negative correlation was observed between behavioral measures and the P1 latency, the P1 component being considered an important clinical resource capable of measuring the cortical maturation and the behavioral evolution.
Mycobacterium avium complex: An unusual cause of hypercalcemia
Authors: Tulika Chatterjee, Yeshaswini Panathur Sreenivasa Reddy, Manasa Kandula
Journal: IDCases (2021)
Keywords: granulomatous disease, hypercalcemia, immunocompetent, mycobacterium avium complex
MeSH terms: Case Reports

Mycobacterium avium-complex (MAC) is an infectious granulomatous disease which is associated with hypercalcemia especially in immunocompromised patients. We present an unusual case of MAC infection in an immunocompetent patient presenting as hypercalcemia.A 76-year-old immunocompetent male was admitted for hypercalcemia of 12.6 mg/dl found on outpatient evaluation for fatigue. PTH level was low 8 pmol/L, Vitamin D 25hydroxy was 29 ng/ml, 1,25 dihydroxy vitamin D (1,25(OH)2 vitamin D) levels was low at 11 pg/ml, PTH related peptide was 1.1 pmol/L. Hypercalcemia resolved with intravenous hydration and bisphosphonate administration. CT chest identified a nodule with central cavity in the right upper lobe. Pathology from percutaneous biopsy of thenodule demonstrated granulomatous inflammation. AFB culture came positive for MAC. Patient was treated with Azithromycin, Rifabutin and Ethambutol for twelve months.Granulomatous diseases like MAC cause hypercalcemia via activation of macrophages which express extrarenal 1- alpha -hydroxylase. It converts vitamin D to its active form 1,25(OH)2 vitamin D causing its excess, leading to hypercalcemia. Interestingly, in our patient calcium level was elevated with appropriately low PTH but 1,25(OH)2 vitamin D level was also low. There are few reported cases of hypercalcemia in granulomatous disease with normal levels of 1,25(OH)2 vitamin D levels, and our case is the first one to have MAC associated hypercalcemia with low 1,25(OH)2 vitamin D levels, suggesting an alternative mechanism for hypercalcemia in these patients.