OpenMed/multicare-articles huggingface dataset:
An unsuspected histopathological finding -concomitant IgA nephropathy in a patient with ANCA-associated vasculitis: a case report and literature review
Authors: Maciej Tota, Piotr Donizy, Martyna Byrska, Magdalena Krajewska, Mariusz Kusztal
Journal: Front Immunol (2023)
Keywords: anca-associated vasculitis, crp, gpa, iga nephropathy, pr-3 anca, granulomatosis with polyangiitis, kidney biopsy, treatment
MeSH terms: Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis / complications, Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis / diagnosis, Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis / drug therapy, Glomerulonephritis, IGA / diagnosis, Glomerulonephritis, IGA / drug therapy, Review, Case Reports, Research Support, Non-U.S. Gov't, Cyclophosphamide / therapeutic use, Humans, Methylprednisolone / therapeutic use, Plasma Exchange, Cyclophosphamide, Methylprednisolone

Although associations of IgA nephropathy (IgAN) and ANCA-associated vasculitis (AAV) have been described, this coexistence scarcely occurs and requires multidisciplinary management. Herein, we discuss a course of treatment introduced in a patient with two exacerbations. Furthermore, alterations in histopathological images between two kidney biopsies are presented. The applicability of traditional inflammatory markers, e.g., CRP, in monitoring disease severity in AAV and IgAN is limited. Based on our patient and current literature, we suggest ANCA testing in patients with rapidly progressing IgAN for therapeutic and prognostic purposes. As regards the therapy of IgAN associated with AAV, aggressive immunosuppressive regimens with methylprednisolone and cyclophosphamide are recommended. Alternatively, methylprednisolone with rituximab, plasma exchange, mycophenolate mofetil, and intravenous immunoglobulin (IVIG) could also be considered.
Case Report: The importance of early intervention for gastroesophageal reflex disease caused by hiatal hernia
Authors: Toshihiko Kakiuchi, Satoshi Obata, Azusa Koji, Nobuya Minematsu, Maho Fuchigami, Atsuhisa Fukuta, Tatsuro Tajiri, Masato Yoshiura
Journal: Front Pediatr (2024)
Keywords: child, fundoplication, gastroesophageal reflux, hiatal hernia, proton pump inhibitor
MeSH terms: Case Reports

Background:
Gastroesophageal reflux (GER) disease (GERD) is a condition wherein GER causes troublesome symptoms that can affect daily functioning and/or clinical complications within the esophagus or other systems. To avoid this, patients with GERD often require treatment; hence, it is important to distinguish GER from GERD. Patients with GERD exhibiting alarm signs should be examined early to differentiate it from GER and treated accordingly. Herein, we present a case of GERD caused by a hiatal hernia that required surgical intervention for esophagial cicatrical stenosis despite oral treatment. We also discussed how to choose the appropriate acid suppressants for GERD.
Case presentation:
A 1-year-old boy was referred to our hospital for repeated vomiting and poor weight gain. He received histamine 2 receptor antagonists (H2RAs) that contributed slightly to the decreased frequency of vomiting and aided weight gain; however, he soon stopped gaining weight and had bloody vomit. His upper gastrointestinal series revealed hiatal hernia, a 24 h impedance pH monitoring test indicated abnormal values for acid reflux, and esophagogastroduodenoscopy (EGD) revealed esophagitis. He was subsequently diagnosed with GERD associated with hiatal hernia. A proton pump inhibitor (PPI) was intravenously administered to him, following which his medication was changed to a potassium-competitive acid blocker (P-CAB). Thereafter, his vomiting episodes significantly decreased and his weight increased. However, 6 months after starting P-CAB, his vomiting episodes suddenly increased in frequency. EGD revealed the presence esophageal stricture due to scarring from GERD. He was then treated via laparoscopic fundoplication, gastrostomy, and esophageal balloon dilation. Thereafter, his vomiting episodes stopped and food intake improved, leading to weight gain.
Conclusion:
It is essential to identify the cause of GERD early and take an appropriate treatment approach depending on the cause of GERD with alarm signs. Further, as a drug therapy for GERD as a clear acid mediated disease or in children with alarm signs, PPIs or P-CAB should be used from the beginning instead of H2RAs.
Case report: Allogeneic stem cell transplantation for type B insulin resistance
Authors: Thomas Ebert, Gerhard Behre, Lorenz Weidhase, Vladan Vucinic, Cornelia Gewert, Robert K Semple, Michael Stumvoll, Anke Tönjes
Journal: Front Med (Lausanne) (2023)
Keywords: wiskott-aldrich syndrome, allogeneic peripheral blood stem cell transplantation, case report, diabetes, rescue therapy, type b insulin resistance
MeSH terms: Case Reports

Type B insulin resistance (TBIR) is a rare, often fulminant form of insulin resistance caused by autoantibodies against the insulin receptor. If left untreated, its mortality is high. Various immunosuppressive regimens have shown efficacy, but treatment effects are variable and time-delayed, and drug-induced complications may arise. We report a patient with TBIR arising as a complication of Wiskott-Aldrich syndrome. Stable remission of TBIR was achieved through allogeneic peripheral blood stem cell transplantation (PBSCT) over a follow-up period of more than 1.5 years. We thus demonstrate that PBSCT can be considered a treatment option in TBIR where conventional immunosuppressive therapy is ineffective or contraindicated.
Posterior Interosseous Neuropathy with Peripheral Dystonia: A Case Report
Authors: Gohei Yamada, Takanari Toyoda, Eiichi Katada, Noriyuki Matsukawa
Journal: Tremor Other Hyperkinet Mov (N Y) (2024)
Keywords: dystonia, neuropathy, posterior interosseus neuropathy, pseudodystonia
MeSH terms: Dystonia / etiology, Dystonia / physiopathology, Case Reports, Dystonic Disorders / complications, Dystonic Disorders / diagnosis, Dystonic Disorders / physiopathology, Fingers / physiopathology, Humans, Male, Middle Aged, Peripheral Nervous System Diseases / complications, Peripheral Nervous System Diseases / diagnosis, Peripheral Nervous System Diseases / etiology, Peripheral Nervous System Diseases / physiopathology

Background:
Posterior interosseous neuropathy is an uncommon cause of peripheral dystonia.
Case report:
A 62-year-old man awakened and noticed right finger drop. A neurological examination revealed posterior interosseous neuropathy with dystonia-like finger movements. Abnormal movements were predominantly observed in the right thumb, ring finger, and little finger. Within 2 weeks, the muscle weakness in the right fingers had completely improved. However, a brief abnormal posture of the right thumb was persistent.
Discussion:
The residual abnormal posture of the right thumb may reflect pre-existing motor control abnormalities, which may have contributed to the onset of posterior interosseous neuropathy-associated peripheral dystonia.
Case report: Diagnosis of ADCY5-related dyskinesia explaining the entire phenotype in a patient with atypical citrullinemia type I
Authors: Audrey Pontrucher, Magalie Barth, Alban Ziegler, Juan Manuel Chao de la Barca, Delphine Mirebeau-Prunier, Pascal Reynier, Chadi Homedan
Journal: Front Neurol (2023)
Keywords: adcy5-related dyskinesia, ass1, adenylate cyclase type 5, argininosuccinate synthetase 1, citrullinemia type 1
MeSH terms: Case Reports

In this case study, we report the case of a 13-year-old girl with citrullinemia type 1 (MIM #215700), an autosomal recessive inherited disorder of the urea cycle, which was confirmed by the identification of a homozygous pathogenic variant in the argininosuccinate synthetase 1 (ASS1) gene. However, the patient presented abnormal hyperkinetic movements with global developmental delay and clinical signs that were not fully consistent with those of citrullinemia type 1 or with those of her siblings with isolated citrullinemia type 1. Exome sequencing showed the presence of a de novo heterozygous pathogenic variant in the adenylate cyclase type 5 (ADCY5) gene. The variant confirmed the overlap with the so-called ADCY5-related dyskinesia with orofacial involvement, which is autosomal dominant (MIM #606703), a disorder disrupting the enzymatic conversion of adenosine triphosphate (ATP) to cyclic adenosine monophosphate (cAMP). In addition to the citrullinemia-related low-protein diet and arginine supplementation, the identification of this second disease led to the introduction of a treatment with caffeine, which considerably improved the dyskinesia neurological picture. In conclusion, this case highlights the importance of clinical-biological confrontation for the interpretation of genetic variants, as one hereditary metabolic disease may hide another with therapeutic consequences.
Summary:
This article reports the misleading superposition of two inherited metabolic diseases, showing the importance of clinical-biological confrontation in the interpretation of genetic variants.
A large abdominal cyst as a manifestation of pelviureteric junction obstruction in a neonate
Authors: Syed Faisal Usman, Athar Razaq, Ejaz Ahmad, Abdul Rehman Rashid, Maham Shehzadi
Journal: Pak J Med Sci (2024)
Keywords: intraabdominal cystic lesions, neonatal intensive care unit (nicu), pelviureteric junction obstruction (pujo), percutaneous nephrostomy (pcn), ultrasound (usg)
MeSH terms: Case Reports

Intraabdominal cystic lesions diagnosed during antenatal period are uncommon. They are found to have varying origins, with renal tract being the most common site. Rarely, a large unilateral cystic lesion of renal origin is caused by Pelviureteric junction obstruction, crossing the midline, leading to compression of the contralateral kidney. We present a case of a neonate who was diagnosed with a large abdominal cyst in the antenatal period. The cyst persisted and crossed the midline causing hydronephrosis on the contralateral side. This is an unusual presentation of a commonly occurring condition, usually such large cyst at birth origins from alimentary tract rather renal system. It is important to understand unusual presentations of intraabdominal lesions and the associated pathology. It is mandatory to rule out renal obstruction, if there is any decompression of renal function, it is mandatory to save renal function till the time of definitive surgery.
Usefulness of Sarilumab in Patients with Rheumatoid Arthritis after Regression of Lymphoproliferative Disorders
Authors: Yoshifumi Tada, Akira Maeyama, Tomonobu Hagio, Mariko Sakai, Akihito Maruyama, Takuaki Yamamoto
Journal: Case Rep Rheumatol (2023)
MeSH terms: Case Reports

Lymphoproliferative disorders (LPDs) are serious complications associated with rheumatoid arthritis (RA) treatment that mostly occur during methotrexate (MTX) treatment. Cessation of MTX may induce regression of LPDs but is often followed by a flare of RA. Here, we describe two patients with RA flares after the discontinuation of MTX due to LPDs and sarilumab was useful for the treatment of RA without a relapse of LPDs. Patient 1 was an 84-year-old woman, who developed an LPD in the pharyngeal region after 7 years of MTX treatment. Discontinuation of MTX induced regression of LPD but RA flared within 6 months. Administration of sarilumab, in addition to salazosulfapyridine and prednisolone, reduced the RA activity without LPD relapse. Patient 2 was a 76-year-old man, who developed LPD in the pharyngeal region after 5 years of MTX treatment. Discontinuation of MTX induced regression of LPD, but soon RA flared. Although treatment with tocilizumab (TCZ) was effective in controlling RA, it flared again after 2 years. TCZ was switched to sarilumab and RA was in remission. LPD did not recur during these periods.
Tislelizumab induced dual organs dysfunction in a patient with advanced esophageal squamous cell carcinoma: a case report
Authors: Bo Yang, Wei Gou, Naiying Lan, Qing Shao, Weifeng Hu, Cheng Xue, Nanmei Liu
Journal: Front Oncol (2024)
Keywords: acute kidney injury, acute liver injury, esophageal squamous cell carcinoma, immune checkpoint inhibitor, tislelizumab
MeSH terms: Case Reports

Background:
Tislelizumab, a humanized IgG4 anti-PD-1 monoclonal antibody has been approved in China and Europe. According to the published clinical research, tislelizumab shows satisfactory safety profile. No severe hepatotoxicity or acute kidney injury were reported.
Case presentation:
We presented a case study of a 74-year-old man who developed acute kidney injury (grade 3) and acute liver injury (grade 4) after being administered tislelizumab for the treatment of esophageal squamous cell carcinoma. We reviewed the patient's history, physical examination, and laboratory findings and provided comprehensive differentials of the possible causes of the toxicities. Immune Checkpoint Inhibitors (ICI) hepatotoxicity and nephrotoxicity were confirmed clinically. We also discussed the management of toxicities associated with ICIs and the need for a multidisciplinary approach to care.
Conclusions:
The case highlights the importance of close monitoring and prompt management of toxicities associated with ICIs and the need for further research to better understand the risk factors for these toxicities and to identify effective treatments for them.
"Penumbra sign" in knee pain: a case of distal femur osteomyelitis
Authors: Hakan Koray Tosyali, Adem Çakir
Journal: Braz J Med Biol Res (2024)
MeSH terms: Abscess / diagnostic imaging, Abscess / surgery, Osteomyelitis / diagnosis, Osteomyelitis / diagnostic imaging, Case Reports, Adult, Femur / diagnostic imaging, Femur / surgery, Humans, Male, Pain, Radiography

"Penumbra sign" is a characteristic finding in magnetic resonance imaging (MRI) of Brodie's abscess, a rare variant of subacute osteomyelitis. We aimed to discuss the imaging finding penumbra sign that will help in the diagnosis of osteomyelitis and may be useful to clinicians in differential diagnosis. A 26-year-old male patient presented to the emergency department with complaints of pain and limping in the right knee that did not go away. He had a history of arthroscopic debridement and percutaneous fixation surgery due to osteochondral fragment 3 years ago. There were no additional findings in the patient's vital parameters, physical examination, and medical history. X-ray imaging revealed two screws in the distal femur and a well-defined sclerotic rim surrounding a radiolucent lesion anterior to the screws. MRI revealed a lesion in the distal femoral metaphysis with low-density fluid and hyperintense granulation tissue surrounding it. After surgical abscess drainage and local debridement, bone cement was placed in the resulting cavity. Teicoplanin treatment was started. The patient was discharged and complete recovery was achieved in the second month. The diagnosis of osteomyelitis is often missed or confused with bone tumors in non-traumatic cases presenting with persistent bone pain. MRI imaging is frequently used in differential diagnosis, and detection of characteristic imaging signs such as the penumbra sign accelerates the diagnosis. In this context, emergency department clinicians, in particular, should be cautious and not forget that early treatment can be started by recognizing these signs.
Case report: Small bowel obstruction secondary to congenital transmesenteric internal hernia in a cat
Authors: Min-Hee Kang, Young-Chil Kang, Jun-Won Yoon, Hee-Myung Park
Journal: Front Vet Sci (2024)
Keywords: congenital disease, feline, gastrointestinal disease, internal hernia, mesenteric defect
MeSH terms: Case Reports

An 8-month-old castrated male British Shorthair cat presented with acute anorexia and vomiting. The overall clinical presentation included generalized depression. Physical examination revealed palpable abdominal mass, thus foreign body or intussusception was suspected. Abdominal radiographs showed segmental dilation of small intestine and ultrasonography revealed target lesion with dilated small bowel loops and disrupted normal wall layering, suggestive of intussusception. Exploratory laparotomy confirmed congenital mesenteric defects associated with small intestinal obstruction. Surgical intervention involved dissection, ligation of encircling blood vessels, and closure of mesenteric defects. The cat was discharged after 3 days, exhibiting normal postoperative recovery. To our knowledge, this is the first case report of congenital mesenteric defect associated with small intestinal obstruction in a cat. While internal hernias are rare, it is essential to include them in the differential diagnosis for cases of intestinal obstruction, particularly in patients with no history of previous surgery or trauma. The potential for strangulation and ischemia in the affected loops elevates internal hernias to a critical, life-threatening condition, emphasizing the need for prompt recognition and urgent surgical intervention as an emergency.
Pacemaker Lead Entanglement during Interventional PFO Occlusion: Salvage Using a Sizing Balloon
Authors: Andreas Goldschmied, Juergen Schreieck, Michal Droppa
Journal: Case Rep Cardiol (2023)
MeSH terms: Case Reports

We present a case of a patient with a transient ischaemic attack (TIA) likely due to paradoxical embolism through a patent foramen ovale (PFO). Her medical history included 2nd-degree heart block Mobitz II, which manifested with recurrent syncopes and was treated with a dual chamber pacemaker. During the interventional PFO closure procedure, we noted entrapment of the atrial pacemaker lead between the right-sided occluder disc and the interatrial septum. We were able to successfully move the lead aside using a 24 mm sizing balloon and subsequently developed the right-sided occluder disc in the correct position. In conclusion, pacemaker-lead entrapment between a PFO occluder disc and the interatrial septum can be prevented using a sizing balloon.
Flea-Borne Typhus as a COVID-19 Mimic: A Report of Four Cases
Authors: Bradley V Dye, Jose Alejandro Coba, Christopher L Dayton, Jose Cadena, Gregory M Anstead
Journal: Case Rep Infect Dis (2024)
MeSH terms: Case Reports

Flea-borne typhus (FBT), due to Rickettsia typhi and R. felis, is an infection causing fever, headache, rash, hepatitis, thrombocytopenia, and diverse organ manifestations. Cough occurs in about 30% of patients with FBT, and chest X-ray abnormalities are seen in 17%. Severe pulmonary manifestations have also been reported in FBT, including adult respiratory distress syndrome and pulmonary embolism. Because of these pulmonary manifestations, FBT can mimic Coronavirus Illness 2019 (COVID-19), a febrile illness with prominent respiratory involvement. Flea-borne typhus and COVID-19 may also have similar laboratory abnormalities, including elevated ferritin, C-reactive protein, and D-dimer. However, elevated transaminase levels, rash, and thrombocytopenia are more common in FBT. Herein, we present four cases of patients with FBT who were initially suspected to have COVID-19. These cases illustrate the problem of availability bias, in which the clinician thinks a particular common condition (COVID-19 in this case) is more prevalent than it actually is.
Correction of Peri-Implant Soft Tissue Fenestration With Bony Dehiscence Associated With Intrabony Defect: A 2-Year Case Report
Authors: Sujiwan Seubbuk Sangkhamanee, Thitiwan Teparat-Burana
Journal: Case Rep Dent (2024)
Keywords: bony dehiscence, connective tissue graft, peri-implant soft tissue fenestration, peri-implantitis
MeSH terms: Case Reports

Soft and hard tissue deficiencies around dental implants which can potentially compromise implant survival are commonly encountered. Complicated interventions are often required to address and resolve combinations of soft and hard tissue defects. This case report describes the management of peri-implant soft tissue fenestration accompanied by bony dehiscence associated with intrabony defect through soft tissue modification. A 51-year-old female was referred to the Periodontics and Oral Medicine Clinic with labial soft tissue fenestration at the maxillary left canine implant-supported crown. The patient complained of discomfort and malodor at the implant site. The implant showed mucosal fenestration and 6 mm probing depth (PD) with profuse bleeding at the distolabial site without mobility. A cone beam computed tomography (CBCT) demonstrated labial bony dehiscence associated with a 5.56-mm intrabony defect at mesial and distal surfaces. The implant was diagnosed as peri-implantitis with soft tissue deficiency. The treatment comprised oral hygiene instruction, debridement of the implant and all natural teeth, and mucogingival surgery with free connective tissue graft by the envelope technique. Two weeks after debridement, the mucosal margin of the implant disappeared, presenting soft tissue dehiscence of 4 × 4 mm. Mucogingival surgery was performed 3 weeks later. A 2-year follow-up revealed a stable mucosal margin with PD ranged 2-4 mm. In conclusion, modification of the soft tissue thickness around the implant together with excellent plaque control by the patient successfully maintained peri-implant health.
Acute ST-Elevation Myocardial Infarction in a Young Adult: Rare Presentation of Giant Atrial Myxoma
Authors: Rodrigo Rufino Pereira Silva, Carolina Jerônimo Magalhães, Rafael Silvestre Vieira da Silva, Giulia Antoni Ferreira Rocha, Paulo Ernando Ferraz Cavalcanti, Sérgio Tavares Montenegro
Journal: Arq Bras Cardiol (2024)
MeSH terms: Heart Atria / diagnostic imaging, Heart Atria / pathology, Heart Neoplasms / complications, Heart Neoplasms / diagnostic imaging, Heart Neoplasms / pathology, Myxoma / complications, Myxoma / diagnostic imaging, ST Elevation Myocardial Infarction / diagnostic imaging, ST Elevation Myocardial Infarction / etiology, Case Reports, Adult, Coronary Angiography, Echocardiography, Electrocardiography, Humans, Male

Cardiac tumors are rare entities, among which atrial myxoma (AM) stands as the most frequent, accounting for approximately half of all reported cases. The incidence of AM is estimated to range from 0.001% to 0.3% within the general population, yet only about 0.06% of these cases present with coronary embolic events. We report on a 33-year-old male smoker who experienced acute, severe precordial pain radiating to the left upper limb, lasting for one hour. The electrocardiographic evaluation demonstrated ST-segment elevation in leads D2, D3, and aVF, alongside significantly elevated serum troponin levels, confirming a diagnosis of ST-segment elevation myocardial infarction (STEMI). Subsequent coronary angiography revealed proximal occlusion of the right coronary artery due to thrombus. An initial attempt of thrombus aspiration was unsuccessful, followed by primary angioplasty with balloon inflation without stent placement. Further diagnostic exploration through transthoracic echocardiography identified a homogenous, smooth-surfaced mass measuring 5.2 cm x 2.3 cm attached to the interatrial septum. This mass, characterized by lobulations, prolapsed into the mitral valve and left ventricle during diastole, consistent with AM. Surgical resection of the mass was successfully performed, with the patient being discharged asymptomatic. In the reported case, the patient's profile, notably his age, and gender, diverges from the typical epidemiological characteristics associated with AM. This case adds to the limited number of reports where the inferior wall is affected by the right coronary artery being occluded. This report emphasizes the significance of differential diagnoses in younger patients presenting with STEMI.