OpenMed/multicare-articles huggingface dataset:
Spectrum of Clinical Manifestations in Children With WT1 Mutation: Case Series and Literature Review
Authors: Patricia Arroyo-Parejo Drayer, Wacharee Seeherunvong, Chryso P Katsoufis, Marissa J DeFreitas, Tossaporn Seeherunvong, Jayanthi Chandar, Carolyn L Abitbol
Journal: Front Pediatr (2022)
Keywords: 46xy sex reversal, wilms tumor, congenital nephrotic syndrome, disorders of sexual development, steroid-resistant nephrotic syndrome

Background:
Mutations of the Wilms tumor suppressor-1 gene (WT1) are associated with life-threatening glomerulopathy, disorders of sexual development, Wilm's tumor, and gonadal malignancies. Our objectives were to describe the clinical presentations, age of progression, and onset of complications of WT1 mutation through a case series and literature review.
Methods:
A retrospective study included all patients followed at the University of Miami/Holtz Children's Hospital from January 2000 to December 2020 with a diagnosis of WT1 mutation. A literature review of WT1 mutation cases was analyzed for clinical manifestations, karyotype, and long-term outcomes.
Results:
The WT1 mutation was identified in 9 children, median age at presentation of 0.9 years (range 1 week to 7 years). A total of four had female phenotypes, and 5 had abnormalities of male external genitalia, while all had XY karyotypes. All progressed to end-stage kidney disease (ESKD) and received a kidney transplant at a median age of 5 years (1.5-15 years). During a median time of follow-up of 9 years (range 2-28 years), there were 2 allograft losses after 7 and 10 years and no evidence of post-transplant malignancy. From 333 cases identified from the literature review, the majority had female phenotype 66% (219/333), but the predominant karyotype was XY (55%, 183/333). Of the female phenotypes, 32% (69/219) had XY sex reversal. Wilm's tumor occurred in 24%, predominantly in males with gonadal anomalies.
Conclusions:
Early recognition of WT1 mutation is essential for comprehensive surveillance of potential malignancy, avoidance of immunosuppressants for glomerulopathy, and establishing long-term multidisciplinary management.
HRCT diagnosis of combined pulmonary fibrosis and emphysema in a patient of chronic obstructive pulmonary disease with pulmonary hypertension and clinical or radiograph suspicion of pulmonary fibrosis
Authors: Kataveeranahally Shekar Manjunath, Hirennappa Udnur
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Combined pulmonary fibrosis and emphysema (CPFE) is a unique pulmonary condition characterized by simultaneous coexistence of both upper lobe emphysema and lower lobe fibrosis. Pulmonologists should be aware of the entity while evaluating patients with chronic obstructive pulmonary disease (COPD) or pulmonary fibrosis. Airflow and lung volume are relatively preserved but oxygenation is disproportionately impaired in patients with CPFE. We describe a case of an 83-year-old male patient with past history of heavy smoking, in whom the search for the cause of pulmonary arterial hypertension and exercise-induced arterial oxygen desaturation disproportionate to be explained by COPD resulted in a diagnosis of CPFE. He complained of dyspnoea on exertion and non-productive cough. Physical examination revealed basal Velcro rales and clubbing. Chest radiography showed prominent vascular markings, preserved lung volume and subtle fibrosis of the bases. Definitive diagnosis was made on CT scan of the chest, which revealed upper lobe emphysema and lower lobe fibrosis and honeycombing. The patient was managed by long-term oxygen therapy, inhaled corticosteroid, long-acting bronchodilator and antimuscarinic agents, diuretic, pirfenidone (antifibrotic agent), proton pump inhibitor and N-acetyl cysteine (antioxidant). We emphasize the importance of the diagnosis of CPFE in early stages through CT in a case of COPD with clinical, laboratory and chest radiographic evidence of fibrosis and the fact that CPFE is associated with pulmonary hypertension, a poor prognostic indicator.
Hemiparesis post cerebral malaria
Authors: Oumkaltoum Taiaa, Touriya Amil, Abdelatif Darbi
Journal: Pan Afr Med J (2015)
Keywords: brain, cerebral malaria, magnetic resonance imaging, plasmodium falciparum
MeSH terms: Malaria, Cerebral / complications, Malaria, Falciparum / complications, Paresis / parasitology, Case Reports, Adult, Coma / complications, Coma / parasitology, Humans, Male, Morocco, Seizures / complications, Seizures / parasitology

Cerebral malaria is one of the most serious complications in the Plasmodium falciparum infection. In endemic areas, the cerebral malaria interested mainly children. The occurrence in adults is very rare and most interested adult traveling in tropical zones. This case report describes a motor deficit post cerebral malaria in a young adult traveling in malaria endemic area. This complication has been reported especially in children and seems very rare in adults.
Renin dependent hypertension caused by accessory renal arteries
Authors: Pei Lin Chan, Florence Hui Sieng Tan
Journal: Clin Hypertens (2018)
Keywords: accessory renal artery, renovascular hypertension, secondary hyperaldosteronism
MeSH terms: Case Reports

Background:
Hypokalemia in the presence of hypertension is often attributed to primary hyperaldosteronism as a cause of secondary hypertension, however secondary hyperaldosteronism may present similarly. Accessory renal arteries are variants in the vascular anatomy which are often thought to be innocuous but in some circumstances can cause renovascular hypertension leading to secondary hyperaldosteronism.
Case presentation:
We report 2 cases of hypertension with secondary hyperaldosteronism associated with accessory renal arteries. Both patients presented with hypokalemia and further investigations revealed hyperaldosteronism with unsuppressed renin levels. Imaging studies showed the presence of accessory renal artery.
Conclusion:
Accessory renal arteries are a potential cause renovascular hypertension which can be detected via CT angiography or magnetic resonance angiography. Hormonal evaluation should be undertaken to determine whether its presence contributes to hypertension in the patient as targeted treatment such as aldosterone antagonist can be initiated. Surgical intervention or renal denervation may be considered in resistant cases.
Exposure to air pollution and self-reported effects on Chinese students: A case study of 13 megacities
Authors: Sohail Ahmed Rajper, Sana Ullah, Zhongqiu Li
Journal: PLoS One (2018)
MeSH terms: Air Pollution / analysis, Environmental Exposure / analysis, Self Report, Students / statistics & numerical data, Multicenter Study, Research Support, Non-U.S. Gov't, Adolescent, Adult, Air Pollution / adverse effects, Air Pollution / prevention & control, Asian People, Awareness, China, Cities, Environmental Exposure / adverse effects, Environmental Exposure / prevention & control, Female, Geography, Health Knowledge, Attitudes, Practice, Humans, Hypersensitivity / etiology, Hypersensitivity / prevention & control, Male, Students / psychology, Universities, Young Adult

Air pollution causes severe physical and psychological health complications. Considering China's continuously-deteriorating air quality, this study aimed to assess the self-reported effects of air pollution on the behavior and physical health of the students of 13 densely populated cities, and their awareness, practices, and perception of air pollution and its associated public health risks. A detailed, closed-ended questionnaire was administered to 2100 students from 54 universities and schools across China. The questionnaire, which had 24 questions, was categorized into four sections. The first two sections were focused on air pollution-associated behavior and psychology, and physical effects; while the final two sections focused on the subjects' awareness and perceptions, and practices and concerns about air pollution. The respondents reported that long-term exposure to air pollution had significantly affected their psychology and behavior, as well as their physical health. The respondents were aware of the different adverse impacts of air pollution (respiratory infections, allergies, and cardiovascular problems), and hence had adopted different preventive measures, such as the use of respiratory masks and glasses or goggles, regularly drinking water, and consuming rich foods. It was concluded that air pollution and haze had negative physical and psychological effects on the respondents, which led to severe changes in behavior. Proper management, future planning, and implementing strict environmental laws are suggested before this problem worsens and becomes life-threatening.
Toxic Epidermal Necrolysis-Like Lesions and Systemic Lupus Erythematosus Possibly Triggered by Sulfasalazine
Authors: Simon Krabbe, Cigdem Gül, Bjarne Andersen, Niels Tvede
Journal: Case Rep Rheumatol (2016)

This case report describes a patient with arthritis of the large joints, bilateral sacroiliitis, and positive anti-SSA and anti-dsDNA antibody, who received sulfasalazine and shortly thereafter became critically ill. He developed toxic epidermal necrolysis, hemolytic anemia, lymphopenia, markedly elevated ferritin, and muscle wasting. A diagnosis of systemic lupus erythematosus was made, and mycophenolate mofetil and systemic glucocorticoids brought this severe disease under control. Toxic epidermal necrolysis-like lesions and hemophagocytic syndrome have been reported as manifestations of systemic lupus erythematosus. This patient possibly had spondyloarthritis or an undifferentiated connective tissue disease at presentation, and we suggest, based on the timing of events, that sulfasalazine may have acted as a trigger of the severe disease manifestations.
A unique case of hepatocellular carcinoma treated with radiofrequency ablation with more than 12 years overall survival: a case report
Authors: Loukas Thanos, Nikolaos Ptohis, Anastasia Pomoni, Evangelia Sotiropoulou, Maria Pomoni, Dimitrios Kelekis
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

The case of a 72-year-old male patient with HCC is presented in whom percutaneous RFA was used as the sole first-line anticancer treatment, since he denied having partial hepatectomy. The patient underwent RFA two more times, at 1.5 years for treating a local tumor progression at the initial ablation site and at 11 years after the first session for treating a new remote intrahepatic recurrence. He revealed a long-term survival of more than 12 years so far and still remains in excellent clinical status.
Ectropion and Conjunctival Mass in a Patient with Primary Bilateral Conjunctival Amyloidosis
Authors: Alessandro Meduri, Miguel Rechichi, Cosimo Mazzotta, Sergio Zaccharia Scalinci, Mahmoud O Jaroudi
Journal: Case Rep Ophthalmol Med (2016)

Background. Amyloidosis is a group of disorders characterized by deposition of an extracellular protein, known as amyloid, in an abnormal fibrillar form with highly characteristic histopathologic staining properties. The clinical presentation can vary from a focal, localized lesion where amyloidosis has minor clinical consequences to extensive systemic disease that can involve any organ system of the body. Ocular amyloidosis can occur as a localized lesion or as a part of a systemic disorder. Conjunctival amyloidosis is an uncommon condition that is rarely associated with systemic disease. It may be a manifestation of an immunologic disorder. Case Report. We report the case of a patient with bilateral conjunctival amyloidosis who was referred to us with the suspicion of a malignant conjunctival lesion. Examination of both eyes showed a yellow-pink mass with prominent intrinsic vessels, subconjunctival hemorrhage, and ectropion of the left lower eyelid. Diagnosis of primary localized conjunctival amyloidosis was made based on histopathologic evaluation of incisional biopsy and negative systemic work-up. Conclusion. Ocular amyloidosis is a rare disease that is slowly progressive and has a wide variety of clinical presentations. Consequently, the clinical diagnosis is often overlooked or delayed. Definitive diagnosis is achieved through histopathologic evaluation of biopsy specimen.
Case Report: Blinatumomab therapy for the treatment of B-cell acute lymphoblastic leukemia patients with central nervous system infiltration
Authors: Han-Yu Cao, Hui Chen, Song-Bai Liu, Wen-Jie Gong, Chong-Sheng Qian, Tong-Tong Zhang, Chao-Ling Wan, Si-Man Huang, Nan Xu, Hai-Ping Dai, Sheng-Li Xue
Journal: Front Immunol (2023)
Keywords: acute lymphoblastic leukemia, blast phase, blinatumomab, central nervous system leukemia, chronic myeloid leukemia, immunotherapy
MeSH terms: Antineoplastic Agents / therapeutic use, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / drug therapy, Precursor Cell Lymphoblastic Leukemia-Lymphoma / drug therapy, Case Reports, Research Support, Non-U.S. Gov't, Central Nervous System, Humans, Recurrence, blinatumomab, Antineoplastic Agents

The treatment of B-cell acute lymphoblastic leukemia (B-ALL) with central nervous system (CNS) involvement poses a significant clinical challenge because most chemotherapeutic agents exhibit weak permeability to the blood-brain barrier (BBB). In addition, current anti-CNS leukemia treatments often bring short or long-term complications. Immunotherapy including chimeric antigen T-cell therapy and bispecific antibody have shown profound treatment responses in relapsed/refractory B-ALL. However, there is a lack of data on the efficacy of bispecific antibody in treating B-ALL with CNS involvement. Here, we report two ALL patients with CNS leukemia who received blinatumomab. Case 1 was diagnosed with chronic myeloid leukemia in lymphoid blast phase. The patient developed CNS leukemia and bone marrow relapse during the treatment with dasatinib. Case 2 was diagnosed with B-ALL and suffered early hematologic relapse and cerebral parenchyma involvement. After treatment with one cycle of blinatumomab, both patients achieved complete remission in the bone marrow and CNS. Furthermore, this is the first report on the efficacy of blinatumomab in treating CNS leukemia with both of the cerebral spinal fluid and the cerebral parenchymal involvement. Our results suggest that blinatumomab might be a potential option for the treatment of CNS leukemia.
Thoracoscopic Treatment of Pneumothorax in Marfan Syndrome: Hemostatic Patch to Support Lung Resection Recovery
Authors: Gloria Pelizzo, Eloisa Arbustini, Noemi Pasqua, Patrizia Morbini, Valeria Calcaterra
Journal: Case Rep Surg (2018)
MeSH terms: Case Reports

Introduction:
In selected patients, the absorbable fibrin patch TachoSil® is superior to standard surgical treatment in reducing air leakage after pulmonary lobectomy. Pulmonary involvement is not considered a main feature of Marfan syndrome (MFS); however, spontaneous pneumothorax (SP) with a high rate of recurrence is frequently reported. We describe the use of TachoSil® in the supportive treatment of recurrent pneumothorax in a girl with MFS.
Case report:
A 12-year-old girl with a previous diagnosis of MFS and recurrent history of left spontaneous pneumothorax was submitted to thoracoscopic atypical lung resection. Two patches (9.5 × 4.8 cm) were cut from the adhesive/foam complex (TachoSil®) and were pressed against the sutured area as supportive treatment. The patient recovered with no further SP recurrences.
Conclusions:
The use of the TachoSil® surgical patch may be useful in pneumothorax supportive treatment, particularly in pediatric MFS by ameliorating the mechanical strength of the lung.
Secondary prevention of allergic symptoms in a dairy farmer by use of a milking robot
Authors: Gintautas Korinth, Horst Christoph Broding, Wolfgang Uter, Hans Drexler
Journal: Clin Mol Allergy (2005)

Background:
Animal-derived allergens include lipocalins which play an increasing role in occupational respiratory sensitizations. The prevention of sensitization in stock farming is often difficult due to intense exposure, with traditional milking still requiring close animal contact. Complete avoidance of allergen exposure is only possible if stock farming is abandoned. This is, however, often not feasible in small dairy plants because of the resulting loss of income.
Case presentation:
In a 37-year-old female farmer daily asthmatic complaints appeared, associated with cow dust-derived allergen exposure by milking with a conventional device. Respiratory symptoms increased during a period of 12 years. Allergic bronchial asthma was diagnosed, caused by sensitization against cow dust-derived allergens, as demonstrated by positive skin prick test and by detection of IgE antibodies. In a separate specific inhalation challenge test using a 10% extract of cow dust-derived allergens a 330% increase of airway resistance was detected. To enable further dairy farming, a milking robot was installed in 1999, i.e., an automatic milking system. The novel milking technique reduced the daily exposure from over 2 hours to approximately 10 min. The clinical course after the installation of the milking robot was favourable, with less frequent allergic and asthmatic symptoms. Furthermore, asthma medication could be reduced. Improvement was noted also in terms of lung-function and decreased total serum IgE.
Conclusion:
The case presented and the evidence from the literature indicates that the strategy of exposure minimization to allergens at workplaces can be an effective alternative to total elimination. In farmers with cow dust allergy a milking robot is an appropriate technical measure to minimize allergen-exposure.
Case Report: Association between cyclic neutropenia and SRP54 deficiency
Authors: Melinda Erdős, Oksana Boyarchuk, László Maródi
Journal: Front Immunol (2022)
Keywords: wes - whole-exome sequencing, autosomal dominant disease, cyclic neutropenia, granulocyte - colony-stimulating factor (g-csf), signal recognition particle
MeSH terms: Neutropenia / congenital, Neutropenia / etiology, Neutropenia / genetics, Signal Recognition Particle / genetics, Case Reports, Research Support, Non-U.S. Gov't, Child, Congenital Bone Marrow Failure Syndromes, Female, Granulocyte Colony-Stimulating Factor / therapeutic use, Humans, SRP54 protein, human, Signal Recognition Particle, Granulocyte Colony-Stimulating Factor, Cyclic neutropenia, Neutropenia, Severe Congenital, Autosomal Recessive 3

Autosomal dominant mutations in the signal recognition particle (SRP) 54 gene were recently described in patients with severe congenital neutropenia (SCN). SRP54 deficiency cause a chronic and profound neutropenia with maturation arrest at the promyelocyte stage, occurring in the first months of life. Nearly all reported patients with SRP54 mutations had neutropenia without a cyclic pattern and showed a poor or no response to granulocyte colony-stimulating factor (G-CSF) therapy. We report here an 11-year-old female patient with cyclic neutropenia and recurrent heterozygous p.T117del (c.349_351del) in-frame deletion mutation in SRP54, who showed remarkable therapeutic response to G-CSF treatment. The diagnosis of cyclic pattern of neutropenia was established by acceptable standards. ELANE gene mutation was excluded by using various genetic approaches. The patient described here also had dolichocolon which has not been described before in association with SCN.
Case Report: Uterine Adenosarcoma With Sarcomatous Overgrowth and Malignant Heterologous Elements
Authors: Yunuén I García-Mendoza, Mario Murguia-Perez, Aldo I Galván-Linares, Saulo Mendoza-Ramírez, Norma L García-Salinas, Julio G Moctezuma-Ramírez, Blanca O Murillo-Ortiz, Luis Jonathan Bueno-Rosario, Marco A Olvera-Olvera, Guillermo E Corredor-Alonso
Journal: Front Med (Lausanne) (2022)
Keywords: heterologous elements, immunohistochemistry, malignant neoplasm, uterine adenosarcoma, uterine sarcoma classification
MeSH terms: Case Reports

A 46- year-old woman presented a uterine adenosarcoma originating in the lower uterine segment. The diagnosis was made in an endometrial biopsy and confirmed in the pathological examination of the complete surgical specimen, both identifying heterologous malignant elements. In addition, complementary immunohistochemical studies were performed. We reviewed the literature, illustrating the clinical and morphological characteristics and the differential diagnoses to be evaluated.
Postintervention Dyspnea after Radiofrequency Catheter Ablation: Think of a Phrenic Nerve Injury
Authors: Liliana E Ramos-Villalobos, Luis Colin Lizalde, Manlio F Márquez, Pedro Iturralde, Francisco Castillo
Journal: Case Rep Cardiol (2017)
MeSH terms: Case Reports

Phrenic nerve injury (PNI) is a rare complication of catheter ablation therapy, most commonly observed in cryoablation of the right side pulmonary veins. We present a case of PNI after radiofrequency catheter ablation that developed acute dyspnea 24 hours after the intervention. Dyspnea is the main symptom of PNI, so the diagnosis should always be suspected if it appears after any type of catheter ablation involving the trajectory of the phrenic nerve. There is no specific treatment for PNI. The only maneuver that has been reported to accelerate the recovery of PNI is early stopping of the ablation therapy.
Unilateral Ureteric Endometriosis at the Pelvic Brim Resulting in Complete Loss of Renal Function
Authors: Keisuke Tanaka, Akwasi A Amoako, Katherine Gray, David Baartz
Journal: Case Rep Obstet Gynecol (2019)
MeSH terms: Case Reports

Deep infiltrating endometriosis of the urinary tract is rare but can result in ureteric obstruction, hydroureteronephrosis and renal failure. Ureteric endometriosis usually affects the distal third of the left ureter among women of reproductive age. Greater awareness of ureteric endometriosis and a multidisciplinary approach in the management is essential to achieve optimal outcomes. We present an atypical case of right ureteric obstruction due to endometriosis at the pelvic brim resulting in complete loss of renal function and necessitating nephroureterectomy.
KNEE ARTHROPLASTY REVISION WITH A CONSTRAINED IMPLANT USING HINGE AND ROTATING TIBIAL BASIS
Authors: Fabio Jansen Angelini, Camilo Partezani Helito, Bruno Azevedo Veronesi, Tales Mollica Guimarães, José Ricardo Pécora, Marco Kawamura Demange
Journal: Acta Ortop Bras (2016)
Keywords: arthroplasty, replacement, knee, prostheses and implants

Objective:
To evaluate the results of total knee arthoplasty revisions performed in high complexity cases, with large bone defects or serious ligament deficiencies using a constrained implant hinge associated to a rotating tibial basis.
Methods:
We evaluated 11 patients in which we used the constrained implant hinge associated to rotating tibial basis, with minimum follow-up of two years. The indications for the procedure included instability, septic loosening, late postoperative infection without loosening and periprosthetic fracture. We evaluated the knee range of movement and functional outcomes by the Knee Society Score (KSS) e Knee Injury and Osteoarthritis Outcome Score (KOOS), besides the presence of complications.
Results:
All patients achieved 5(o) to 85(o) minimum range of motion at 1 year postoperatively and, in the present evaluation, KSS ranged from 67 to 95. Three patients had no complications until the last evaluation and two patients required implant revision.
Conclusion:
Despite the complications rate observed, the functional result were acceptable for most patients, and it proved being a viable alternative, especially for patients with low functional demand. Level of Evidence IV, Case Series.