OpenMed/multicare-articles huggingface dataset:
A case report of Mikulicz's disease
Authors: Dang Luu Vu, Tra My Thieu-Thi, Minh Thong Pham, My Le-Thi, Huu An Nguyen, Minh Duc Nguyen
Journal: Pan Afr Med J (2020)
Keywords: mikulicz’s disease, case report, lacrimal gland, salivary gland, swelling
MeSH terms: Lacrimal Apparatus / diagnostic imaging, Mikulicz' Disease / diagnosis, Salivary Glands / diagnostic imaging, Case Reports, Adult, Diagnosis, Differential, Female, Humans, Immunoglobulin G / immunology, Mikulicz' Disease / immunology, Mikulicz' Disease / physiopathology, Sjogren's Syndrome / diagnosis, Ultrasonography, Immunoglobulin G

Mikulicz's disease is a unique condition involving the enlargement of the lacrimal and salivary glands, similar to that observed in Sjogren's syndrome; however, Mikulicz's disease is clinically characterized by infrequent autoimmune reactions and responsiveness to glucocorticoid treatment. The ultrasound features of the lacrimal and salivary glands in patients with IgG4-Mikulicz's disease were characterized by multiple hypoechoic areas of varying sizes within the enlarged glands. IgG4 serum level was also elevated, in contrast to the detection of normal levels in Sjogren's syndrome. In this article, we intended to illustrate a case of Mikulicz's disease with clinical and imaging features.
Case Reports in Oncological Medicine Myoepithelioma: A New Rearrangement Involving the LPP Locus in a Case of Multiple Bone and Soft Tissue Lesions
Authors: Géraldine Pairet, Gaëlle Tilman, Rafaël Sciot, Thomas Schubert, Vasiliki Perlepe, Hélène A Poirel, Christine Galant
Journal: Case Rep Oncol Med (2018)
MeSH terms: Case Reports

We report a case of multiple myoepithelioma with synchronous bone and soft tissue tumors, associated with a new genomic alteration of the LPP locus. The lesions occurred in the foot by presenting one lump in the plantar soft tissue, and three lesions were detected in the calcaneus and in the navicular bone. All tumors showed the double immunophenotype of epithelial markers and S100 protein expression. No rearrangement of the EWSR1 and FUS loci was detected as reported in myoepitheliomas. However, molecular karyotyping detected an unbalanced rearrangement of the LPP locus, not involving the HMGA2 locus, which is the most frequent translocation partner observed in benign mesenchymal tumors such as lipomas (of soft tissue as well as parosteal) and pulmonary chondroid hamartoma.
Malignant Hypercalcemia Due to the Ectopic Production of Calcitriol by an Abdominal Liposarcoma
Authors: Ana Figueiredo, Teresa Pereira, Rafael Cabrera, Joana Simões-Pereira, Valeriano Leite
Journal: Cureus (2023)
Keywords: 1α-hydroxylase, calcitriol, dedifferentiated liposarcoma, immunohistochemistry (ihc), malignant hypercalcemia
MeSH terms: Case Reports

Hypercalcemia of malignancy (HM) is a common form of paraneoplastic syndrome associated with a poor prognosis of the disease. In solid tumors, HM occurs mainly due to the production of parathyroid hormone-related peptide (PTHrP). We present a case of a 60-year-old male with a 25 cm retroperitoneal liposarcoma diagnosed with severe hypercalcemia (16.8 mg/dL) by a preoperative blood sampling. Hypercalcemia workup showed suppressed parathyroid hormone (PTH), normal PTHrP, and high 1,25-dihydroxyvitamin D (1,25(OH)2D) serum levels. After surgery, hypercalcemia and calcitriol levels normalized. Immunohistochemical analysis of the tumor showed 1α-hydroxylase expression by tumor cells. To our knowledge, this is the first case of liposarcoma-associated hypercalcemia caused exclusively by the ectopic production of calcitriol. Despite being a rare cause of hypercalcemia, measuring 1,25(OH)2D should be considered in the workup of a patient with high serum calcium levels, suppressed PTH, and normal PTHrP.
Case Report: Hyper IgM Syndrome Identified by Whole Genome Sequencing in a Young Syrian Man Presenting With Atypical, Severe and Recurrent Mucosal Leishmaniasis
Authors: Camilla Heldbjerg Drabe, Rasmus L Marvig, Line Borgwardt, Jens D Lundgren, Hanne Vibeke Hansen Maquart, Terese Lea Katzenstein, Marie Helleberg
Journal: Front Immunol (2020)
Keywords: diagnostic, genetics, hyper igm syndrome, immunodeficiency, leishmaniasis, whole genome sequencing
MeSH terms: Hyper-IgM Immunodeficiency Syndrome / diagnosis, Hyper-IgM Immunodeficiency Syndrome / etiology, Leishmaniasis / diagnosis, Leishmaniasis / etiology, Mucous Membrane / parasitology, Whole Genome Sequencing, Case Reports, Research Support, Non-U.S. Gov't, Biomarkers, Biopsy, CD40 Ligand / genetics, DNA Mutational Analysis, Endoscopy, Humans, Hyper-IgM Immunodeficiency Syndrome / complications, Immunophenotyping, Male, Mutation, Symptom Assessment, Syria, T-Lymphocytes / immunology, T-Lymphocytes / metabolism, Young Adult, Biomarkers, CD40 Ligand

A previously healthy 19-year-old Syrian man presented with atypical and severe mucosal leishmaniasis caused by Leishmania tropica. During a 2-year period, he had three severe relapses despite various treatment strategies, including liposomal amphotericin B and Miltefosine. Because of the unusual clinical presentation, potential underlying immunodeficiency was investigated. Normal T and NK cell counts were found. The B cell count was slightly elevated at 0.7 × 109 cells/L (0.09 × 109 to 0.57 × 109 cells/L), but the proportions of memory and isotype switched memory B cells were severely diminished IgG levels were low, at 309 mg/dL (610-1490 mg/dL). The initial IgM and IgA levels were within normal range, but the IgA levels decreased to 57 mg/dL (70-430 mg/dL) during follow up. Common variable immunodeficiency (CVID) was initially suspected, because the immunological results of low IgG and IgA, low switched memory B cells, no profound T cell deficiency found and absence of secondary cause of hypogammaglobulinemia were compatible with this diagnosis (ESID 2019). However, the highly unusual and severe clinical presentation of L. tropica is not suggestive of B-cell deficiency or CVID. Eventually a pathogenic nonsense variant in the CD40 ligand gene [p.(Arg11∗)] was identified by whole genome sequencing, thus enabling the diagnosis of X-linked hyper IgM syndrome. This case illustrates and supports the potential for the use of whole genome sequencing in accurate diagnosis of primary immunodeficiencies.
Case report: A rare homozygous variation in the ENPP1 gene, presenting with generalized arterial calcification of infancy in a Chinese infant
Authors: Pengtao Lu, Jinglong Chen, Mei Chen, Ling Wang, Dandan Xiang, Jie Yin, Shiwei Yang
Journal: Front Cardiovasc Med (2023)
Keywords: enpp1, arterial calcification, early-onset of hypertension, ectopic mineralization, generalized arterial calcification of infancy
MeSH terms: Case Reports

Generalized arterial calcification of infancy (GACI) is a rare genetic disease characterized by arterial calcifications or stenoses and hypertension. GACI is caused by mutations in the ENPP1 or ABCC6 genes, and it often causes intrauterine or early infancy death. Here, we report a case of rare GACI caused by a homozygous variation in ENPP1, in a Chinese infant initially presenting with hypertension. The proband was an 8-month-old boy with in utero tricuspid valve calcification, presenting with hypertension at birth. Enhanced computed tomography revealed extensive arterial calcification. Genetic testing identified a homozygous variation in ENPP1 (c.783C > G p.Y261X), which led to the diagnosis of GACI. This mutation has been reported in only three Chinese patients, which all initially presented with hypophosphatemic rickets rather than GACI. This case enriches the clinical and genetic spectrum of ENPP1 mutations and reminds us that GACI should be considered in an infant presenting with hypertension and extensive arterial calcification, and that genetic testing should be performed.
Intratesticular Angiolipoma: A Rare Case of Adipose Tissue Presence in the Testis
Authors: V Kalyvas, C Gkekas, D Papadopoulos, A Malioris, S Milias, M Papathanasiou, N Kalinderis, K Moysidis, K Hatzimouratidis
Journal: Case Rep Urol (2019)
MeSH terms: Case Reports

Introduction:
Solid, fat-containing tumors of the testes are extremely rare with only a few cases having been reported so far, contrary to the more frequent occurrence of paratesticular lipomatosis. Testicular angiomyolipomas and gonadal involvement in Cowden's disease, although infrequently occurring, are known examples of fat-bearing testicular lesions. Hereby, we present an extremely rare case of intratesticular angiolipoma. Angiolipomas are benign tumors of the subcutaneous tissue commonly occurring in the trunk and the extremities. Histologically, they are characterized by ample vascularity and an excess of mature adipocytes. Definitive diagnosis is established by biopsy of the lesion.
Presentation of the case:
A 35-year-old patient presented to our andrology outpatient clinic for fertility assessment. Physical examination of external genitalia revealed no significant pathology. Testicular ultrasound however depicted an isoechoic lesion on the upper pole of the right testis measuring 1.8 cm × 0.8 cm × 1 cm and exhibiting intense arterial flow. After sonographic and MRI investigation, the patient was referred for semen analysis and cryopreservation. Subsequently, the patient underwent testicular biopsy (frozen section biopsy) and right partial orchiectomy. Final histology reported a noninfiltrating testicular angiolipoma. No recurrences have been observed in the follow-up period.
Discussion:
Angiolipomas, which mainly occur in the trunk and extremities, are classified as infiltrating and noninfiltrating. The diagnosis is based on both clinical and histologic criteria, and the main method of treatment for both types is by surgical excision. The infiltrating type exhibits higher recurrence rates.
Conclusion:
Angiolipomas commonly occur in the subcutaneous tissue and have been invariably treated by radical excision. Hereby, we report the first case of an intratesticular, noninfiltrating type angiolipoma which was treated by partial orchiectomy.
Dystonic Cerebral Palsy Phenotype Due to GNAO1 Variant Responsive to Levodopa
Authors: Luiz Felipe Vasconcellos, Vinicius Pinheiro Soares, Lucas Leroux de Ricchezza
Journal: Tremor Other Hyperkinet Mov (N Y) (2023)
Keywords: gnao, cerebral palsy, dystonia, genetic
MeSH terms: Cerebral Palsy / drug therapy, Cerebral Palsy / genetics, Dopamine Agents / therapeutic use, GTP-Binding Protein alpha Subunits, Gi-Go / genetics, Levodopa / therapeutic use, Case Reports, Dystonia / drug therapy, Dystonia / genetics, Heterozygote, Humans, Male, Phenotype, Young Adult, Dopamine Agents, GNAO1 protein, human, GTP-Binding Protein alpha Subunits, Gi-Go, Levodopa

Background:
Cerebral palsy (CP) should not be considered a diagnosis, but rather a syndrome related to several etiologies, including, but not limited to, neurological sequelae of a perinatal brain injury.
Case report:
24-years-old man with dystonia and delayed motor and cognitive development had been previously diagnosed with CP. Molecular genetic testing identified a heterozygosity variant in GNAO 1 gene. A therapeutic trial with levodopa was started, with improvement of dystonia.
Discussion:
GNAO1 gene variant disorders share similarities with other causes of CP syndrome, and thus investigation of this variant should be included in instances of CP syndrome without a clear history of previous perinatal brain injury. GNAO1 dystonic phenotype (DYT-GNAO1) should be considered as dopa-responsive dystonia in some cases.
Ectopic paraesophageal mediastinal parathyroid adenoma, a rare cause of acute pancreatitis
Authors: Christophoros N Foroulis, Sotirios Rousogiannis, Christos Lioupis, Dimitrios Koutarelos, Georgia Kassi, Athanassios Lioupis
Journal: World J Surg Oncol (2004)

Background:
The manifestation of primary hyperparathyroidism with acute pancreatitis is a rare event. Ectopic paraesophageal parathyroid adenomas account for about 5%-10% of primary hyperparathyroidism and surgical resection results in cure of the disease.
Case presentation:
A 71-year-old woman was presented with acute pancreatitis and hypercalcaemia. During the investigation of hypercalcemia, a paraesophageal ectopic parathyroid mass was detected by computerized tomography (CT) scan and 99mTc sestamibi scintigraphy. The tumor was resected via a cervical collar incision and calcium and parathormone tumor levels returned to normal within 48 hours.
Conclusions:
Acute pancreatitis associated with hypercalcaemia should pose the suspicion of primary hyperparathyroidism. Accurate preoperative localization of an ectopic parathyroid adenoma, by using the combination of 99mTc sestamibi scintigraphy and CT scan of the neck and chest allows successful surgical treatment.
Catastrophic Prosthetic Valve Endocarditis Caused by Rare Black Fungi
Authors: Khurram Butt, Ranjeet Kumar, Jason D'Souza, Joseph Limback, Rajesh Shah, Jeremy Burt
Journal: Case Rep Cardiol (2018)
MeSH terms: Case Reports

Fungal infection of prosthetic heart valves is rare and can lead to severe complications including death. Dematiaceous mold, also known as "black fungi," are an extremely rare cause of endocarditis that usually affect immunocompromised hosts. The infection is usually chronic and can lead to heart failure and embolic complications. These fungi have limited antifungal treatment modalities. We present a rare case of prosthetic aortic valve, root, and graft infection in an immunocompetent host that revealed itself through renal, mesenteric, and cerebral embolic phenomenon. The patient underwent removal and replacement of the aortic graft followed by small bowel resection for mesenteric infarction. Patient had a successful postoperative course and underwent a long-term antifungal treatment with amphotericin B and voriconazole.
Primary tuberculoma of the liver: a case report and literature review
Authors: Ghizlane Kharrasse, Mehdi Soufi, Hayat Berekhli, Hidaya Intissar, Mohammed Bouziane, Zahi Ismaili
Journal: Pan Afr Med J (2014)
Keywords: tuberculosis, antitubercular therapy, liver, tuberculome
MeSH terms: Antitubercular Agents / therapeutic use, Tuberculoma / diagnosis, Tuberculosis, Hepatic / diagnosis, Case Reports, Review, Adult, Biopsy, Needle, Humans, Male, Tuberculoma / drug therapy, Tuberculoma / pathology, Tuberculosis, Hepatic / drug therapy, Tuberculosis, Hepatic / pathology, Ultrasonography, Interventional, Antitubercular Agents

We report the case of an immunocompetent patient with an isolated tuberculoma of the liver, which was diagnosed by percutaneous US-guided liver biopsy. The patient received an antitubercular therapy, and there has been no relapse to date.
Parafoveolar retinoblastoma regression with foveal preservation following intra-arterial chemotherapy documented on hand-held optical coherence tomography in a newborn
Authors: Vera Yarovaya, Kareem Sioufi, Carol L Shields
Journal: Int J Retina Vitreous (2017)
Keywords: eye, fovea, foveola, intra-arterial chemotherapy, optical coherence tomography (oct), retina, retinoblastoma
MeSH terms: Case Reports

Background:
Optical coherence tomography (OCT) has become an invaluable tool in retinoblastoma management, providing submillimeter visualization of tumor control following treatment. Herein, we document OCT-detection of a subtle tumor recurrence, allowing early intervention and achieving foveal microanatomy preservation.
Case presentation:
A 3-week-old girl was diagnosed with bilateral familial retinoblastoma, classified as group D in the right eye (OD) and group B in the left eye (OS), and treated with intravenous chemoreduction. At 6-months follow-up, the right eye was under control, but the left eye revealed a subtle juxtafoveal tumor recurrence, documented on handheld OCT (HH-OCT) and measuring 2750 µm in diameter and 792 µm in thickness. Treatment with intraarterial chemotherapy (IAC) using 1 cycle of melphalan 5 mg was performed and complete tumor control was achieved, leaving a flat, concave scar 663 µm from the intact foveola and measuring 2750 µm in diameter and 120 µm in thickness. Foveal microanatomy OS was preserved on HH-OCT. The findings remained stable at 2 years following IAC.
Conclusions:
HH-OCT is an important tool in retinoblastoma management. In this case, HH-OCT allowed for early detection of retinoblastoma recurrence, before foveal invasion. Following treatment with IAC, complete tumor regression was noted and foveal microanatomy remained intact.
Emergent laparoscopic repair of a spigelian hernia: case report and review of the literature
Authors: Reid Barker, Richdeep S Gill, Avneet S Brar, Daniel W Birch, Shahzeer Karmali
Journal: Case Rep Med (2013)

A spigelian hernia is a protrusion through an anterior abdominal wall defect along the linea semilunaris. The traditional method of repair consists of an open surgical technique requiring a lengthy abdominal incision to allow visualization of the defect. However, with the emergence and availability of laparoscopic techniques, a minimally invasive approach is feasible. Only eight prior case reports have documented emergent laparoscopic repair of a spigelian hernia. We describe the first successful laparoscopic repair of a spigelian hernia in an emergent setting at our institution.
Possible Benefit of Angiotensin II Receptor Blockers in COVID-19 Patients: A Case Series
Authors: Su Jin Lee, Taehwa Kim, Woo Hyun Cho, Doosoo Jeon, Seungjin Lim
Journal: J Renin Angiotensin Aldosterone Syst (2021)
MeSH terms: Angiotensin Receptor Antagonists / therapeutic use, COVID-19 Drug Treatment, Case Reports, Adult, Aged, Humans, Male, Middle Aged, Angiotensin Receptor Antagonists

Introduction:
Dysfunction in the renin-angiotensin-aldosterone system (RAAS) has been observed in patients with coronavirus disease 2019 (COVID-19). It is presumed that the effect of reducing interleukin-6 (IL-6) levels by angiotensin II receptor blockers (ARBs) by RAAS modulation. We investigated changes in angiotensin II and IL-6 levels in four COVID-19 patients treated with ARBs. Case Presentation. Cases 1 and 2 were who had not received ARBs before and were newly administered ARBs. Case 3 restarted ARBs after discontinuation for 7 days, and case 4 received an increased dose of ARBs. The mean in angiotensin II levels (607.5 pg/mL, range: 488-850 pg/mL, reference range < 100 pg/mL), C-reactive protein (CRP) (10.58 mg/dL, range 4.45-18.05 mg/dL), and IL-6 (55.78 pg/mL, range: 12.86-144.82 pg/mL, reference range < 7 pg/mL) was observed at the admission in all patients. Upon clinical improvement, the mean decrease in CRP (1.02 mg/dL, range 0.06-3.78 mg/dL) and IL-6 (5.63 pg/mL, range 0.17-20.87 pg/mL) was observed in all patients. Conversely, angiotensin II levels gradually increased.
Conclusion:
This report supports the potential benefit of ARBs to improve the clinical outcomes of COVID-19 patients by controlling RAAS dysfunction.
Blood Cyst of the Mitral Valve Diagnosed in an Adult after Systemic Thrombolysis
Authors: Diana C Ramírez-Mesías, Juan F Contreras-Valero, Gabriel D Pinilla-Monsalve, Carlos E Vesga-Reyes
Journal: Case Rep Cardiol (2020)
MeSH terms: Case Reports

Blood cysts in valves are very rare entities in adults, which can be distinguished through their echocardiographic features. A 57-year-old woman developed sudden dyspnea while hospitalized in the context of urinary sepsis; high-risk pulmonary embolism was diagnosed and she was prescribed systemic thrombolysis. She persisted with fever raising the suspicion of bacterial endocarditis. Transthoracic echocardiography did not report any masses, but later transesophageal imaging revealed a vegetation that was finally characterized as a blood cyst of the mitral valve based on ultrasound features. The patient evolved satisfactorily and did not require surgery.
Streptococcus pneumoniae Coinfection in COVID-19 in the Intensive Care Unit: A Series of Four Cases
Authors: Shrey Shah, Chaitanya Karlapalem, Pratik Patel, Nikhil Madan
Journal: Case Rep Crit Care (2022)
MeSH terms: Case Reports

Bacterial coinfections in patients infected with SARS-CoV-2 pneumonia are uncommon, when compared to coinfections with other respiratory viruses. For example, the prevalence of bacterial coinfections in hospitalized seasonal influenza patients can exceed 30%, whereas the prevalence of bacterial coinfections in SARS-CoV-2 infection is less than 4%. Bacterial coinfections increase the severity of respiratory viral infections and have been associated with higher mortality and morbidity. Current literature shows that diagnostic testing and antibiotic therapy for bacterial infections are not necessary upon admission in majority of patients with SARS-CoV-2 patients. It is however important for the clinician to be cognizant of these coinfections since missing the diagnosis may pose a substantial risk to vulnerable COVID-19 patients. In that light, we present four cases of Streptococcus pneumoniae coinfections complicating confirmed SARS-CoV-2 infections.
Mycobacterium kansasii osteomyelitis - a masquerading disease
Authors: Kiranmai Bhatt, Krishna Banavathi
Journal: JMM Case Rep (2018)
Keywords: mycobacterium kansasii, bone infection, non tuberculous mycobacteria, osteoarticular infection, soft tissue infection
MeSH terms: Case Reports

Introduction:
Non-tuberculous mycobacteria (NTM) are environmental bacteria capable of causing an opportunistic myriad of infections. Mycobacterium kansasii, one such NTM, is responsible for causing pulmonary disease in immunocompromised patients. Rare extrapulmonary manifestations such as lymphadenitis, osteoarticular manifestations, and skin and soft tissue infections are also observed.
Case presentation:
Here, we report an unusual case of sternoclavicular joint and elbow joint infection with M. kansasii in a relatively immunocompetent patient. Histopathology did not show classic granulomas and mycobacterial infection was not initially considered as a possibility. However repeat biopsies were sent for mycobacterial cultures which then grew M. kansasii.
Conclusion:
Diagnosis of M. kansasii in such cases can be difficult and culture-positive results may not necessarily imply positive diagnosis as they can be environmental contaminants. Furthermore, M. kansasii can cause infections without the characteristic granuloma formation, which can further complicate tissue diagnosis. This underlines the importance of ensuring that tissue samples obtained are cultured for mycobacteria.
Anti-inflammatory effects of antidepressant and atypical antipsychotic medication for the treatment of major depression and comorbid arthritis: a case report
Authors: Bernhard T Baune, Harris Eyre
Journal: J Med Case Rep (2010)

Introduction:
This case report describes the effects of psychotropic treatment, quetiapine in particular, on systemic inflammation, pain, general functioning and major depression in the treatment of a woman with arthritis.
Case presentation:
A 49-year-old Caucasian Australian woman with arthritis, pain and depression was treated with a course of escitalopram, mirtazapine and quetiapine. Pain levels, general functioning and degree of depressive symptoms were evaluated with a visual analogue scale. Systemic inflammation had been assessed by C-reactive protein serum levels since 2003. C-reactive protein levels, physical pain, symptoms of arthritis and depression decreased significantly during the past 12 months of treatment with quetiapine, while treatment with selective serotonin reuptake inhibitors and mirtazapine remained the same.
Conclusions:
We suggest that the treatment particularly with quetiapine may have anti-inflammatory effects in arthritis and comorbid major depression, which eventually led to a remission of pain and depression and to normal general function.