OpenMed/multicare-articles huggingface dataset:
Distal 22q11.2 Microduplication: Case Report and Review of the Literature
Authors: Elana Pinchefsky, Laurence Laneuville, Myriam Srour
Journal: Child Neurol Open (2017)
Keywords: developmental delay, genetics, intellectual disability, neurodevelopment, pediatric

Distal chromosome 22q11.2 microduplications are associated with a wide range of phenotypes and unclear pathogenicity. The authors report on a 3-year-old girl with global developmental delay harboring a de novo 1.24 Mb distal chromosome 22q11.2 microduplication and a paternally inherited 0.25 Mb chromosome 4p14 microduplication. The authors review clinical features of 30 reported cases of distal 22q11.2 duplications. Common features include developmental delay (93%), neuropsychiatric features (26%), and nonspecific facial dysmorphisms (74%). In 70% of cases, the distal 22q11.2 duplications were inherited, and the majority of the carrier parents were phenotypically normal. Furthermore, 30% of probands carried an additional copy number variant. Review of the phenotype in individuals carrying microduplications involving similar low copy repeats (LCR) failed to establish any clear genotype-phenotype correlations. Distal 22q11.2 duplications represent a major challenge for genetic counseling and prediction of clinical consequences. Our report suggests a pathogenic role of distal 22q11.2 duplications and supports a "multiple hit" hypothesis underlying its variable expressivity and phenotypic severity.
Resolution of Osseous Sarcoidosis with Methotrexate
Authors: Christopher Kanner, Bonita Libman, Morgan Merchand, Diego Lemos
Journal: Case Rep Rheumatol (2019)
MeSH terms: Case Reports

Though a relatively uncommon manifestation of sarcoidosis, some clinicians are tasked with managing osseous involvement of disease, and the optimal treatment approach in this setting is not well established. Previous studies have shown variable efficacy for osseous sarcoidosis utilizing multiple agents alone or in combination, often using imaging follow-up in conjunction with clinical assessment to evaluate response to treatment. We present a case of widespread skeletal involvement of sarcoidosis without evidence of concurrent pulmonary disease demonstrating marked clinical improvement and near-complete resolution of imaging abnormalities on magnetic resonance imaging (MRI) following the use of methotrexate as the primary pharmacologic agent.
28-Year Survival following Several Metastasectomies, Going through 8th Line Systemic Therapy in a Case of mRCC
Authors: A Magdy, K Bretterbauer, S Hruby, T Kunit, D Colleselli, G Janetschek, M Mitterberger
Journal: Case Rep Urol (2015)

Metastatic renal cell carcinoma (mRCC) has been one of the most treatment-resistant cancers because of its unpredictable clinical course, resistance to chemo- and radiotherapy, and the limited response to immunotherapy and targeted agents. We present a case of long-term survival, that is, 28 years, after primary diagnosis (longest survival in the literature up to our knowledge) with mRCC after several metastasectomies (from local site recurrence, liver, and lung) and eight lines of systemic targeted therapy. This case report shows how crucial is the regular follow-up of patients with RCC after primary management and positive impact of early metastasectomy and systemic targeted therapy in case of mRCC on patients' condition and overall survival.
An Unusual Case of Ventricular Tachycardia in a Young Patient Associated with Cannabis Use
Authors: Parth J Sampat, Sana Riaz, Maneesh Bisen, Robert Carhart
Journal: Case Rep Cardiol (2020)
MeSH terms: Case Reports

Marijuana has become the most widely used illicit drug in the United States. Approximately 43.5 million Americans aged 12 or above have reported the use of marijuana in the last year. The use of cannabinoids and its relationship with cardiac effects are not well known. Many types of arrhythmias have been noted with the use of cannabis products with atrial fibrillation being the most common arrhythmia associated with the use of cannabis. We present a case of a 36-year-old male who presented with pounding chest pain, dyspnea, and diaphoresis following marijuana use. He was found to be in ventricular tachycardia which responded to amiodarone. Workup done was negative for any structural disease, and cardiac catheterization was negative for coronary artery disease. He was ultimately discharged on metoprolol. In this report, we focus on how marijuana can be associated with many arrhythmias including ventricular tachycardia with focus on mechanisms by which it can occur. We believe a detailed social history with screening for cannabis use can identify more cases of arrhythmias that can be potentially associated with marijuana use.
Case report: Lumpy skin disease in an endangered wild banteng ( Bos javanicus) and initiation of a vaccination campaign in domestic livestock in Cambodia
Authors: Alice Porco, Sokha Chea, Sreyem Sours, Vonika Nou, Milou Groenenberg, Cain Agger, Sothyra Tum, Vanna Chhuon, San Sorn, Chamnan Hong, Ben Davis, Sharyn Davis, Sereyrotha Ken, Sarah H Olson, Amanda E Fine
Journal: Front Vet Sci (2023)
Keywords: banteng, case report, conservation, intervention, lumpy skin disease, vaccination, wildlife, wildlife-livestock interface
MeSH terms: Case Reports

We describe a case of lumpy skin disease in an endangered banteng in Cambodia and the subsequent initiation of a vaccination campaign in domestic cattle to protect wild bovids from disease transmission at the wildlife-livestock interface. Lumpy skin disease virus (LSDV) was first detected in domestic cattle in Cambodia in June of 2021 and rapidly spread throughout the country. In September 2021, a banteng was seen in Phnom Tnout Phnom Pok wildlife sanctuary with signs of lumpy skin disease. Scab samples were collected and tested positive for LSDV. Monitoring using line transect surveys and camera traps in protected areas with critical banteng and gaur populations was initiated from December 2021-October 2022. A collaborative multisector vaccination campaign to vaccinate domestic livestock in and around priority protected areas with banteng and gaur was launched July 2022 and a total of 20,089 domestic cattle and water buffalo were vaccinated with LumpyvaxTM. No signs of LSDV in banteng or gaur in Cambodia have been observed since this initial case. This report documents the first case of lumpy skin disease in wildlife in Cambodia and proposes a potential intervention to mitigate the challenge of pathogen transmission at the domestic-wildlife interface. While vaccination can support local livestock-based economies and promote biodiversity conservation, it is only a component of an integrated solution and One Health approach to protect endangered species from threats at the wildlife-livestock interface.
Symptomatic Clitoral Neuroma within an Epidermal Inclusion Cyst at the Site of Prior Female Genital Cutting
Authors: Dani Zoorob, Kristrun Kristinsdottir, Thomas Klein, Sonyoung Seo-Patel
Journal: Case Rep Obstet Gynecol (2019)
MeSH terms: Case Reports

Background:
Clitoral neuromas occurring after female genital mutilation/cutting (FGM/C) can vary in presentation and may require surgical management.
Case:
A 39-year-old East African female with a history of FGM/C presented during pregnancy with a progressively enlarging mass and worsening periclitoral pain. Postpartum surgical excision restored cosmesis and resolved the discomfort with pathology confirming the presence of a neuroma within the epidermal inclusion cyst.
Conclusion:
We present the first published case of a symptomatic clitoral neuroma within an epidermal inclusion cyst. This unique pathology demonstrates that complications of female genital cutting can present in complex and varied ways. Considering the prevalence of FGM/C and increasing rates of emigration from countries in which FGM/C is performed, complex clitoral neuromas are an important long-term complication which providers in Africa or internationally must be aware of.
Epidural Blood Patch in a Patient with a Hematological Malignancy
Authors: Ross Barman, Jack McHugh, Thomas O'Mara, Thomas Pittelkow, Ryan S D'Souza
Journal: Case Rep Med (2023)
MeSH terms: Case Reports

Postdural puncture headache is a frequently encountered complication following procedures such as lumbar puncture, neuraxial anesthesia, or intrathecal drug delivery device implantation. It classically presents as a painful orthostatic headache that is exacerbated when a patient is upright. For treatment, patients are often started on conservative options such as hydration, caffeine, bedrest, and NSAID analgesics; however, certain patients who fail these therapies may require intervention with an epidural blood patch. The epidural blood patch remains the gold standard for treating refractory postdural puncture headache. Contraindications to epidural blood patch include severe coagulopathy, patient refusal, or infection at the intended site of entry. There are no clear consensus recommendations regarding patients with a hematological malignancy and potential risk that autologous blood may seed malignant cells into the neuraxis. In this case report, we present a patient with acute myeloid leukemia who developed a postdural puncture headache after receiving subarachnoid administration of antineoplastics. The patient was refractory to conservative therapy, prompting multidisciplinary consultation and discussion with the patient about the risks and benefits of proceeding with an epidural blood patch. Ultimately, the patient elected to proceed with the offered epidural blood patch which led to complete resolution of his painful headaches and did not cause any spread of malignant cells into his neuraxis or cerebral spinal fluid.
Case report: Neonatal autoimmune lymphoproliferative syndrome with a novel pathogenic homozygous FAS variant effectively treated with sirolimus
Authors: Fawzia M Elgharbawy, Mohammed Yousuf Karim, Dina Sameh Soliman, Amel Siddik Hassan, Anoop Sudarsanan, Ashraf Gad
Journal: Front Pediatr (2023)
Keywords: alps (autoimmune lymphoproliferative syndrome), dnt-cells, fas, autosomal recessive, newborn, novel variant, sirolimus
MeSH terms: Case Reports

Background:
Autoimmune lymphoproliferative syndrome (ALPS) is a rare disease characterized by defective FAS signaling, which results in chronic, nonmalignant lymphoproliferation and autoimmunity accompanied by increased numbers of "double-negative" T-cells (DNTs) (T-cell receptor αβ+ CD4-CD8-) and an increased risk of developing malignancies later in life.
Case presentation:
We herein report a case of a newborn boy with a novel germline homozygous variant identified in the FAS gene, exon 9, c.775del, which was considered pathogenic. The consequence of this sequence change was the creation of a premature translational stop signal p.(lle259*), associated with a severe clinical phenotype of ALPS-FAS. The elder brother of the proband was also affected by ALPS and has been found to have the same FAS homozygous variant associated with a severe clinical phenotype of ALPS-FAS, whereas the unaffected parents are heterozygous carriers of this variant. This new variant has not previously been described in population databases (gnomAD and ExAC) or in patients with FAS-related conditions. Treatment with sirolimus effectively improved the patient clinical manifestations with obvious reduction in the percentage of DNTs.
Conclusion:
We described a new ALPS-FAS clinical phenotype-associated germline FAS homozygous pathogenic variant, exon 9, c.775del, that produces a premature translational stop signal p.(lle259*). Sirolimus significantly reduced DNTs and substantially relieved the patient's clinical symptoms.
Giant sigmoid diverticulum
Authors: Olaoye Iyiade Olatunde
Journal: Pan Afr Med J (2014)
Keywords: giant, diverticulum, sigmoid
MeSH terms: Diverticulum / diagnosis, Diverticulum / surgery, Sigmoid Diseases / diagnosis, Sigmoid Diseases / surgery, Case Reports, Aged, Humans, Male

Giant sigmoid diverticuli are uncommon and usually seen in association with multiple colonic diverticuli. A solitary diverticulum in an otherwise normal colon is very rare. Mostly asymptomatic, excision of giant sigmoid diverticuli is advised to prevent complications.
Giant solitary primary intracranial lymphoma masquerading as meningioma: a case and review of literature
Authors: Junhong Li, Chuanfen Lei, Seidu A Richard, Yanhui Liu
Journal: Pan Afr Med J (2017)
Keywords: lymphomas, immunocompetent, intracranial, meningioma, parenchyma
MeSH terms: Brain Neoplasms / diagnosis, Central Nervous System Neoplasms / diagnosis, Lymphoma, Large B-Cell, Diffuse / diagnosis, Meningioma / diagnosis, Case Reports, Review, Aged, Brain Neoplasms / pathology, Brain Neoplasms / surgery, Central Nervous System Neoplasms / pathology, Central Nervous System Neoplasms / surgery, Humans, Lymphoma, Large B-Cell, Diffuse / pathology, Lymphoma, Large B-Cell, Diffuse / surgery, Lymphoma, Non-Hodgkin / diagnosis, Lymphoma, Non-Hodgkin / pathology, Lymphoma, Non-Hodgkin / surgery, Magnetic Resonance Imaging / methods, Male, Meningioma / pathology, Prognosis, Quality of Life

Non-Hodgkin's lymphomas (NHL) with intracranial origin are very rare and constitutes about 1-2% of primary central nervous system lymphomas (PCNSL). Diffuse large B cell lymphoma (DLBCL) is the most common subtype of NHL and mostly seen in immunocompromised patients. Therefore, the occurrence of giant solitary DLBCL in an immunocompetent patient is puzzling. We present a case of 68-year-old man who was admitted at our facility with a history of "hypomnesia of two (2) months" duration. Magnetic resonance imaging (MRI) revealed a space occupying lesion in the bilateral frontal lobe and corpus callosum measuring about 5.4cm * 4.6cm * 3.8cm with mixed signal intensities and vasogenic edema around the mass. Radiological, this mass was mistaken for meningioma until histopathological studies revealed DLBCL. Giant solitary primary intracranial lymphomas are very rare and can be mistake for meningioma even with very experience radiologist or neurosurgeon since the radiological features of PCNSL can be very unspecific. We achieved to total resection because of the giant and solitary nature of our case. The prognosis of PCNSL is general very poor when the patient is immunocompromised. In immunocompetent patients, who are well managed with surgery and chemotherapy, the overall survival and quality of life can very encouraging.
Single-stage quadriceps tendon reconstruction with gastrocnemius fascia and knee soft tissue defect reconstruction with medial gastrocnemius flap-A case report
Authors: Kresimir Martic, Mladen Vukic, Stipo Matic
Journal: Int J Surg Case Rep (2020)
Keywords: case report, gastrocnemius fascia, gastrocnemius flap, quadriceps tendon, reconstruction, soft tissue defect
MeSH terms: Case Reports

Introduction:
Quadriceps tendon rupture, although uncommon, is associated with knee joint instability and requires surgical repair. A variety of methods including allografts, synthetic grafts and autologous tendons are used for tendon reconstruction. This work is reported in line with the SCARE criteria (Agha et al., 2018) for case report publication.
Presentation of case:
A new method of simultaneous quadriceps tendon reconstruction and soft tissue knee reconstruction in a 38-year-old male patient following trauma to his knee and subsequent multiple surgeries and wound infections. In a single-stage procedure, gastrocnemius muscle fascia was used for quadriceps tendon reconstruction and medial head of the gastrocnemius muscle flap with split-thickness skin graft was used to cover the soft tissue defect on the anterior aspect of the knee following previous post-operative soft tissue infections and subsequent skin necrosis.
Discussion:
The only way to maintain the vitality of the patella was to reconstruct the defect with well-vascularized tissue so we decided to use the medial gastrocnemius muscle flap. To obtain good quality tissue for the quadriceps tendon reconstruction, we decided to use the gastrocnemius muscle fascia to minimise the morbidity of the donor region and to reduce the duration of surgery.
Conclusion:
Postoperatively, the patient had an excellent cosmetic outcome with full active extension and limited flexion of the knee joint caused by the preoperative condition. To our knowledge, quadriceps tendon reconstruction using the gastrocnemius muscle fascia has never been reported in English literature and is as valuable as already known reconstruction methods using other tendons or fascia.
Therapeutic impact of determination of RAS mutations in the plasma of patient with colorectal cancer
Authors: F Macedo, J Monteiro, T Cunha Pereira, A R Monteiro, R Felix Soares, N Bonito, G Sousa
Journal: Gastroenterol Hepatol Bed Bench (2022)
Keywords: ras gene, circulating tumor cell, colorectal cancer, molecular targeted therapies, real-time pcr
MeSH terms: Case Reports

Stage IV colorectal cancer treatment includes targeted therapy depending on RAS status. During disease progression, loss or gain of RAS mutations could happen, supporting the hypothesis of the evolutionary pressure of therapy. Circulating tumor DNA (ctDNA) are nucleic acids released to the bloodstream by the tumor during its development and may be detected by liquid biopsy. The Idylla© Biocartis, a fully automated real-time-PCR-based molecular diagnostic system, was used in a patient with metastatic colorectal cancer with a NRAS mutation in progression after several therapeutic lines. The ctDNA mutational analysis was performed and revealed the absence of mutations in the KRAS, NRAS, and BRAF genes. The patient started the third line of palliative chemotherapy with irinotecan + cetuximab and achieved a partial response for the first time. The authors describe a case in which liquid biopsy determined the higher progression-free survival achieved.
Autosomal dominant chronic mucocutaneous candidiasis with STAT1 mutation can be associated with chronic active hepatitis: A case report
Authors: Lingling Liu, Yuan Huang, Yi Liao, Sainan Shu
Journal: Front Pediatr (2023)
Keywords: gof-stat1 mutation, chronic mucocutaneous candidiasis, fungal infections, liver dysfunction, pediatric
MeSH terms: Case Reports

Background:
Chronic mucocutaneous candidiasis (CMC) is a heterogeneous primary immunodeficiency disease characterized by chronic or recurrent Candida infections of the skin, nails, and mucosa and is mostly associated with STAT1 gain-of-function (GOF) mutation (GOF-STAT1 mutation).
Case presentation:
A two-year-old girl was presented with recurrent liver dysfunction, oral candidiasis, acute bronchial pneumonia, and cytomegalovirus infection. Even after a series of treatments, including antifungal voriconazole, nystatin treatment for oral Candida, antibiotics against bacterial infection, and bicyclol to protect the liver, the child still exhibited signs of splenomegaly. Although we performed relevant etiological tests on the child and conducted histopathology and electron microscopic examination of the liver, we could not explain the clinical symptoms. So, a genetic test was conducted to clarify the diagnosis. Since the child suffered recurrent fungal infections, we speculated that she had combined immunodeficiency. Therefore we performed high-precision clinical display PLUS detection and found that the transcription factor STAT1 had a heterozygous GOF mutation (p. R274W) in its coiled-coil domain.
Conclusion:
The clinical manifestations of chronic mucocutaneous candidiasis caused by GOF-STAT1 mutations are complex and range from mild local fungal infections to severe systemic diseases and are sometimes fatal. Clinicians need to be aware of the possibility of this disease in children with recurrent fungal infections for early diagnosis and treatment.
Glomerular IgA Deposition and Serum Antineutrophil Cytoplasmic Antibody Positivity in a Child With Dystrophic Epidermolysis Bullosa: Case Report and Literature Review
Authors: Ling Yu, Guoping Huang, Zhihong Lu, Jingjing Wang, Weizhong Gu, Junping Li, Jianhua Mao
Journal: Front Pediatr (2022)
Keywords: iga nephropathy, anti-mpo, anti-pr3, antineutrophil cytoplasmic antibodies, child, dystrophic epidermolysis bullosa
MeSH terms: Case Reports

Patients with epidermolysis bullosa (EB) could develop significant urological complications, such as hydroureteronephrosis, renal amyloidosis and IgA nephropathy (IgAN). Here, we presented a 12-year-old boy carrying pathogenic COL7A1 mutation with diagnosis of dystrophic epidermolysis bullosa (DEB). The patient had concomitant gross hematuria and proteinuria. Pathological examinations and immunostaining of renal biopsy showed glomeruli with mesangial hypercellularity and deposition of IgA, which were indicative of IgAN. Interestingly, serological evaluation showed antineutrophil cytoplasmic antibody (ANCA) directed against myeloperoxidase and proteinase 3. Treatment with glucocorticoid, immunosuppressants, angiotensin-converting enzyme inhibitor and antibiotics efficiently improved hemato-proteinuria, and ANCAs became negative as well. This case of DEB presented a unique collection of clinical manifestations and pathological alterations. IgAN and serum positive ANCA were possibly associated with sustained infection secondary to DEB, and can be managed by empirical treatment for primary IgAN.
Longitudinal Assessment of Pulmonary Function and Bronchodilator Response in Pediatric Patients With Post-infectious Bronchiolitis Obliterans
Authors: Xiuhua Yu, Jiaoyang Wei, Yanchun Li, Lu Zhang, Hongming Che, Li Liu
Journal: Front Pediatr (2021)
Keywords: bronchodilator response, children, longitudinal assessment, postinfectious bronchiolitis obliterans, pulmonary function

Backgroud: Postinfectious bronchiolitis obliterans (PIBO) is a rare respiratory disease. In recent years, the disease has been recognized and diagnosed increasingly in children. Pulmonary function is important for diagnosis, identifying the severity of the PIBO and monitoring progression. But there have been only a few studies that followed the evolution of PIBO on the basis of pulmonary function tests (PFTs). Objective: The study targeted the evolution of pulmonary function and bronchodilator response in a case series of Chinese children with PIBO. Methods: Twelve children between the ages of 6-99 months with PIBO were studied retrospectively from 2009 to 2019. Forced vital capacity (FVC), forced expiratory volume in 1 s (FEV1), the FEV1/FVC ratio, and maximal midexpiratory flow velocity 25-75% (MMEF25-75%) were collected at each PFT, and bronchodilator responses were evaluated. Spirometric parameters were monitored over time, and generalized linear mixed models were used to analyze longitudinal panel data. Results: The median baseline PFT values for FVC, FEV1, the FEV1/FVC ratio, and MMEF25-75% were 41.6, 39.75, 90.7, and 22.2%, respectively. At the initial PFTs, 10 (83.3%) patients demonstrated a significant bronchodilator response. FVC and FEV1 increased by 8.212%/year and 5.007%/year, respectively, and the FEV1/FVC ratio decreased by an average of 3.537%/year. MMEF25-75% showed improvement at an average rate of 1.583% every year. Overall, FEV1 and MMEF25-75% showed different degrees of improvement after the use of inhaled bronchodilators at each PFT session for 10 patients, and FEV1 measures demonstrated significant (>12%) β2-bronchodilation in 56% of PFT sessions. Conclusions: Pediatric patients with PIBO showed an obstructive defect in pulmonary function. The FVC, FEV1, and MMEF25-75% improved as they grew older, while the FEV1/FVC ratio decreased. This may be due to the development of lung parenchyma more than airway growth. Airway obstruction in some patients improved with the use of β2 agonists.