OpenMed/multicare-articles huggingface dataset:
Interleukin-1 Receptor-Associated Kinase 4 Deficiency in a Greek Teenager
Authors: Panagiota Karananou, Anastasia Alataki, Efimia Papadopoulou-Alataki
Journal: Case Reports Immunol (2020)
MeSH terms: Case Reports

Background:
Human interleukin- (IL-) 1 receptor-associated kinase 4 (IRAK-4) deficiency is a recently described primary immunodeficiency. It is a rare, autosomal recessive immunodeficiency that impairs toll/IL-1R immunity, except for the toll-like receptor (TLR) 3- and TLR4-interferon alpha (IFNA)/beta (IFNB) pathways. Case Report. We report the first patient in Greece with IRAK-4 deficiency. From the age of 8 months, she presented with recurrent infections of the upper and lower respiratory tract and skin abscesses. For this, she had been repeatedly hospitalized and treated empirically with intravenous antibiotics. No severe viral, mycobacterial, or fungal infections were noted. Her immunological laboratory evaluation revealed low serum IgA and restored in subsequent measurements; normal IgG, IgM, and IgE; and normal serum IgG subclasses. Peripheral blood immunophenotyping by flow cytometry and dihydrorhodamine (DHR) test revealed normal counts. She was able to make functional antibodies against vaccine antigens, including tetanus and diphtheria. She was administered with empirical IgG substitution for 5 years until the age of 12 years, and she has never experienced invasive bacterial infections so far. DNA analysis revealed a heterozygous variant in the patient: c.823delT (p.S275fs ∗ 13 at protein level) in the IRAK4 gene.
Conclusions:
The importance of clinical suspicion is emphasized in order to confirm the diagnosis by IRAK4 gene sequencing and provide the appropriate treatment for this rare primary immunodeficiency, as soon as possible.
Idiopathic neonatal colonic perforation
Authors: Nihat Demir, Oğuz Tuncer, Mehmet Melek, Sultan Kaba, Keziban Bulan, Erdal Peker
Journal: J Neonatal Surg (2014)
Keywords: neonate, perforation, sigmoid colon
MeSH terms: Case Reports

Though the perforation of the colon in neonates is rare, it is associated with more than 50% mortality in high-risk patients. We report a case of idiopathic neonatal perforation of the sigmoid colon in an 8-day-old, healthy, male neonate without any demonstrable cause.
Brain Complete Response to Cabozantinib prior to Radiation Therapy in Metastatic Renal Cell Carcinoma
Authors: An Uche, Chad Sila, Tad Tanoura, James Yeh, Neil Bhowmick, Edwin Posadas, Robert Figlin, Jun Gong
Journal: Case Rep Urol (2019)
MeSH terms: Case Reports

Cabozantinib represents an established vascular endothelial growth factor- (VEGF-) tyrosine kinase inhibitor (TKI) in the treatment paradigm of metastatic renal cell carcinoma (mRCC). Its activity in mRCC patients with brain metastases (BMs) has been largely underreported in prospective clinical trials. We present the unique case of a heavily pretreated mRCC patient with BMs who achieved a brain complete response to cabozantinib prior to receiving radiation therapy. We end with a literature review and discussion of the biologic rationale and growing evidence supporting the intracranial activity of cabozantinib.
Acute abdominal compartment syndrome as a complication of Holmium laser enucleation of the prostate: a case report
Authors: Torsten Richter, Matthias Huebler
Journal: BMC Anesthesiol (2014)
Keywords: abdominal compartment, intra-abdominal hypertension, transurethral resection of prostate
MeSH terms: Intra-Abdominal Hypertension / etiology, Lasers, Solid-State / therapeutic use, Prostatic Hyperplasia / surgery, Case Reports, Research Support, Non-U.S. Gov't, Aged, Critical Care / methods, Diuresis, Humans, Lasers, Solid-State / adverse effects, Male, Prostate / pathology, Prostate / surgery, Retroperitoneal Space / pathology

Background:
In 1996, Holmium laser enucleation of the prostate was introduced and has been shown to be safe and highly effective.
Case presentation:
We report a case of a rare complication that resulted in intra-abdominal compartment syndrome with prolonged intubation and intensive care, involving an 74-year-old male after holmium laser enucleation of prostate, with a massive irrigant fluid leakage into the retroperitoneal space. The elevated abdominal pressure was reduced by forced diuresis. The tracheal tube was removed 18 hours after the patient's transfer to the ICU. The patient was discharged to home one week after the operation.
Conclusion:
In rare cases when no obvious ruptures of the prostate capsule or the bladder occur during laser enucleation of prostate, knowledge regarding possible emersion of massive amounts of irrigant fluid into the retroperitoneal space leading to intra-abdominal compartment syndrome aids in the diagnosis and subsequent successful therapy of intra-abdominal hypertension.
Renal cell carcinoma initially presenting as an arteriovenous malformation: a case presentation and a review of the literature
Authors: Samuel Volin, Peter Steinberg, Derek Mittleider
Journal: Case Rep Urol (2013)

We describe a case of a patient who presented with hematuria and was diagnosed with a renal arteriovenous malformation (AVM). Transcatheter arterial embolization subsequently was performed on this lesion multiple times. Follow-up imaging demonstrated that the AVM was masking an underlying, rapidly growing renal cell carcinoma (RCC). We describe the pathological and radiographic characteristics of AVMs and RCC. We describe the strengths and weaknesses of computed tomography (CT) and magnetic resonance imaging (MRI) to detect and characterize RCC and AVM. We recommend initial and follow-up MR imaging in patients with an AVM to establish a baseline, monitor treatment response, and survey lesions for underlying and obscured malignancy.
De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review
Authors: Cristina Gug, Dorina Stoicanescu, Ioana Mozos, Laura Nussbaum, Mariana Cevei, Danae Stambouli, Anca Gabriela Pavel, Gabriela Doros
Journal: Front Pediatr (2020)
Keywords: 8p(213–p233) duplication, fish, array cgh, autism spectrum disorder, congenital heart defects, de novo, mental retardation, translocation(4, 8)
MeSH terms: Case Reports

Duplications of chromosome 8p lead to rare genetic conditions characterized by variable phenotypes. 8p21 and 8p23 duplications were associated with mental retardation but only 8p23 duplication was associated with heart defects. 8p22→ p21.3 duplications were associated with an autism spectrum disorder in several cases. We present a rare case with a de novo duplication of the entire 8p21.3→ p23.3 region, documented by karyotype, FISH, and array CGH, with t(4;8)(q35;p21.3) translocation in a 7 years-old girl. She was referred for genetic counseling at the age of 20 months due to mild dysmorphic facial features, psychomotor retardation, and a noncyanotic heart defect. Another examination carried out at the age of 5 years, enabled the diagnosis of autism spectrum disorder and attention deficit hyperactivity disorder. Upon re-examination after two years she was diagnosed with autism spectrum disorder, attention deficit hyperactivity disorder, liminal intellect with cognitive disharmony, delay in psychomotor acquisitions, developmental language delay, an instrumental disorder, and motor coordination disorder. Cytogenetic analysis using GTG technique revealed the following karyotype: 46,XX,der(4),t(4;8)(q35;p21.3). The translocation of the duplicated 8pter region to the telomeric region 4q was confirmed by FISH analysis (DJ580L5 probe). Array CGH showed: arr[GRCh37]8p23.3p21.3(125733_22400607) × 3. It identified a terminal duplication, a 22.3 Mb copy number gain of chromosome 8p23.3-p21.3, between 125,733 and 22,400,607. In this case, there is a de novo duplication of a large chromosomal segment, which was translocated to chromosome 4q. Our report provides additional data regarding neuropsychiatric features in chromosome 8p duplication. The phenotypic consequences in our patient allow clinical-cytogenetic correlations and may also reveal candidate genes for the phenotypic features.
COVID-19 and renal infarct: To be or not to be on anticoagulation
Authors: Chelsea Takamatsu, Paola Devis, Ramin Tolouian
Journal: Clin Nephrol Case Stud (2021)
Keywords: covid-19, castleman disease, anticoagulation, arterial thrombi, pulmonary emboli, renal infarction, spleen infarct
MeSH terms: Case Reports

We present a unique case of a male veteran with a history of Castleman disease, presenting with multiple arterial and venous vascular thromboses in the setting of recent Coronavirus (COVID-19)-disease diagnosis. We explore this patient's morbidity related to thrombotic complications of his COVID-19 diagnosis that were potentially avoidable with a comprehensive outpatient evaluation of his risk for thrombosis, as well as the initiation of anticoagulation and/or antiplatelet therapy given his high risk. Our case highlights the need for a standardized clinical workup of patients in the outpatient setting for risk assessment of vascular thrombosis associated with COVID-19 infection to direct medical management, in order to minimize adverse outcomes, complications requiring inpatient admission, and the need for additional yet limited medical resources and interventions. We propose a minimum of low-dose aspirin 81 mg daily as a reasonable approach for outpatient clinicians to consider, based on their best clinical judgement, when managing mild COVID-19, while other options, such as novel oral anticoagulants, are undergoing further investigation.
Submerged goiter proven to be metastatic infiltration of a neuro-endocrine Merkel cell carcinoma
Authors: Nikolaos Tsoukalas, Menelaos Zoulamoglou, Maria Tolia, Evangelos Bournakis, Elin Ronne, Vasileios Barbounis
Journal: Springerplus (2014)
Keywords: merkel cell carcinoma, metastasis, neuroendocrine tumours, submerged goiter, thyroid

Background:
Merkel cell carcinoma (MCC) is an uncommon neuroendocrine cutaneous carcinoma. Metastases to the thyroid gland are rare and may present diagnostic difficulties.
Case presentation:
A 73-year-old woman presented with a hard mass in the adipose tissue of the right inguinal area. This mass was surgically excised and the histology examination showed the existence of a MCC. CT scans revealed a sizable lesion with imaging features of a submerged goiter, invasive to the upper mediastinum. The patient received chemotherapy following by locoregional radiotherapy at the bed of the excised lesion. During the next 10 months the patient was asymptomatic, serum markers values were normal and CT scans findings were stable. However, afterwards NSE and chromogranin values raised and CT scans revealed an enlargement of the submerged goiter. The patient became symptomatic, mainly experiencing respiratory inconvenience. Surgical excision of the right lobe of the thyroid gland was decided and performed without any complications. The histopathology examination showed infiltration of the thyroid gland by a neuroendocrine carcinoma with characteristics compatible with MCC.
Conclusions:
The rare case of metastatic infiltration of the thyroid gland by a MCC based on histological and immunohistochemical findings was described. This case report is of clinical significance indicating that by any abnormal finding in the thyroid gland in patients with a malignant disease, the diagnostic approach should always contain consideration of metastasis from the primary tumor.
High-dose ibuprofen therapy associated with esophageal ulceration after pneumonectomy in a patient with cystic fibrosis: a case report
Authors: Jennifer E Mackey, Ran D Anbar
Journal: BMC Pediatr (2004)
MeSH terms: Anti-Inflammatory Agents, Non-Steroidal / adverse effects, Cystic Fibrosis / drug therapy, Esophageal Diseases / chemically induced, Ibuprofen / adverse effects, Pneumonectomy, Postoperative Complications / chemically induced, Ulcer / chemically induced, Case Reports, Review, Adolescent, Anti-Inflammatory Agents, Non-Steroidal / administration & dosage, Anti-Inflammatory Agents, Non-Steroidal / therapeutic use, Barrett Esophagus / complications, Combined Modality Therapy, Contraindications, Cystic Fibrosis / complications, Esophageal Diseases / etiology, Esophageal Motility Disorders / complications, Esophagitis, Peptic / complications, Fundoplication, Gastroesophageal Reflux / surgery, Gastrointestinal Hemorrhage / etiology, Hernia / etiology, Humans, Ibuprofen / administration & dosage, Ibuprofen / therapeutic use, Lung Diseases / etiology, Male, Prostaglandins E / deficiency, Pulmonary Atelectasis / etiology, Pulmonary Atelectasis / surgery, Ulcer / etiology, Anti-Inflammatory Agents, Non-Steroidal, Prostaglandins E, Ibuprofen

Background:
Lung disease in patients with cystic fibrosis is thought to develop as a result of airway inflammation, infection, and obstruction. Pulmonary therapies for cystic fibrosis that reduce airway inflammation include corticosteroids, rhDNase, antibiotics, and high-dose ibuprofen. Despite evidence that high-dose ibuprofen slows the progression of lung disease in patients with cystic fibrosis, many clinicians have chosen not to use this therapy because of concerns regarding potential side effects, especially gastrointestinal bleeding. However, studies have shown a low incidence of gastrointestinal ulceration and bleeding in patients with cystic fibrosis who have been treated with high-dose ibuprofen.
Case presentation:
The described case illustrates a life-threatening upper gastrointestinal bleed that may have resulted from high-dose ibuprofen therapy in a patient with CF who had undergone a pneumonectomy. Mediastinal shift post-pneumonectomy distorted the patient's esophageal anatomy and may have caused decreased esophageal motility, which led to prolonged contact of the ibuprofen with the esophagus. The concentrated effect of the ibuprofen, as well as its systemic effects, probably contributed to the occurrence of the bleed in this patient.
Conclusions:
This report demonstrates that gastrointestinal tract anatomical abnormalities or dysmotility may be contraindications for therapy with high-dose ibuprofen in patients with cystic fibrosis.
Evaluation of depression and obesity indices based on applications of ANOVA, regression, structural equation modeling and Taguchi algorithm process
Authors: Nur Anisah Mohamed, Ayed R A Alanzi, Noor Azlinna Azizan, Suzana Ariff Azizan, Nadia Samsudin, Hashem Salarzadeh Jenatabadi
Journal: Front Psychol (2023)
Keywords: taguchi, experimental design, mhealth apps, obesity and depression, women’s obesity

Introduction:
Depression and obesity are the main threat among women which have been considered by many research scholars in psychology studies. In their analysis for measuring and estimating obesity and depression they were involving statistical functions.
Methods:
Regression, Analysis of Variance (ANOVA), and in the last two decades Structural Equation Modeling are the most familiar statistical methods among research scholars. Taguchi algorism process is one the statistical methods which mostly have been applying in engineering studies. In this study we are looking at two main objectives. The first one is to introduce Taguchi algorism process and apply it in a case study in psychology area. The second objective is challenging among four statistical techniques include ANOVA, regression, SEM, and Taguchi technique in a same data. To achieve those aims we involved depression and obesity indices with other familiar indicators contain socioeconomic, screen time, sleep time, and usage fitness and nutrition mobile applications.
Results and discussion:
Outputs proved that Taguchi technique is able to analyze some correlations which are not achieved by applying ANOVA, regression, and SEM. Moreover, SEM has a special capability to estimate some hidden correlations which are not possible to evaluate them by using ANOVA, regression, and even Taguchi method. In the last, we found that some correlations are significant by SEM, however, in the same data with regression those correlation were not significant. This paper could be a warning for psychology research scholars to be more careful with involving statistical methods for measuring and estimating of their research variables.
Nevus Lipomatosus Superficialis on the Left Proximal Arm
Authors: Alexander K C Leung, Benjamin Barankin
Journal: Case Rep Dermatol Med (2017)
MeSH terms: Case Reports

We report a 58-year-old woman with a solitary type of nevus lipomatosus superficialis on the left proximal arm. To our knowledge, the occurrence of a solitary type of nevus lipomatosus superficialis on the arm has very rarely been reported. A perusal of the literature revealed but one case, to which we are going to add another one. Recognition of this clinical manifestation is important so that a proper diagnosis can be made.
Osteonecrosis of the Jaws in Dogs in Previously Irradiated Fields: 13 Cases (1989-2014)
Authors: Ana Nemec, Boaz Arzi, Katherine Hansen, Brian G Murphy, Milinda J Lommer, Santiago Peralta, Frank J M Verstraete
Journal: Front Vet Sci (2015)
Keywords: dog, jaw osteonecrosis, oral tumors, osteoradionecrosis, radiotherapy

The aim of this report was to characterize osteonecrosis of the jaws (ONJ) in previously irradiated fields in dogs that underwent radiotherapy (RT) for oral tumors. Osteoradionecrosis of the jaw (ORNJ) was further defined as osteonecrosis in a previously irradiated field in the absence of a tumor. Thirteen dogs clinically diagnosed with 15 ONJ lesions were included in this retrospective case series. Medical records were reviewed for: breed, sex, weight, and age of the patient, tumor type, location in the oral cavity and size, location of the ONJ, time from RT to ONJ onset, known duration of the ONJ, and tumor presence. Where available, histological assessment of tissues obtained from the primary tumor, and tissues obtained from the ONJ lesion, was performed, and computed tomographic (CT) images and dental radiographs were reviewed. RT and other treatment details were also reviewed. Twelve dogs developed ONJ in the area of the previously irradiated tumor or the jaw closest to the irradiated mucosal tumor. Recurrence of neoplasia was evident at the time of ONJ diagnosis in five dogs. Time from RT start to ONJ onset varied from 2 to 44 months. In three cases, ORNJ developed after dental extractions in the irradiated field. Dental radiographs mostly revealed a moth-eaten pattern of bone loss, CT mostly revealed osteolysis, and histopathology was consistent with osteonecrosis. To conclude, development of ONJ/ORNJ following RT is a rare, but potentially fatal complication. Patients undergoing RT may benefit from a comprehensive oral and dental examination and treatment prior to RT.
Torsion of Hydrosalpinx with Concurrent Acute Cholecystitis: Case Report and Review of Literature
Authors: Preeti R John, Amelia M Pasley
Journal: Case Rep Surg (2016)

Introduction. Isolated torsion of the Fallopian tube is an uncommon cause of acute lower abdominal pain and can occur in women of all age groups. Cholecystitis is a frequent cause of upper abdominal pain. We present an unusual case with the presence of these two distinct pathological entities occurring concurrently in the same patient, causing simultaneously occurring symptoms. To our knowledge, this is the first reported presentation of such a case. Methods. We describe a 34-year-old premenopausal woman who presented with right sided upper and lower abdominal pain and nausea. Abdominal ultrasound (US) revealed acute cholecystitis. Vaginal US was suggestive of right hydrosalpinx. Intravenous antibiotics were administered and consent was obtained for operative intervention. During laparoscopy, the right Fallopian tube with hydrosalpinx was noted to be twisted three times. The right ovary appeared normal. The gall bladder wall was thickened and inflamed. Laparoscopic right salpingectomy and cholecystectomy were performed. Results. Surgical pathology revealed hydrosalpinx with torsion and acute calculous cholecystitis. The patient had an uneventful postoperative course and was discharged home on the first postoperative day. Her symptoms resolved after the procedure. Conclusions. In women with abdominal pain, both gynecologic and nongynecologic etiologies should be considered in the differential diagnoses. Concurrent presence of symptomatic gynecologic and nongynecologic intra-abdominal pathology is rare. Isolated Fallopian tube torsion is rare and is associated most often with hydrosalpinx. Some torqued Fallopian tubes can be salvaged. Laparoscopy is useful in management of both Fallopian tube torsion and cholecystitis.
Reuse of a pediatric liver graft: a case report
Authors: Koray Karabulut, Cengiz Eris, Turgut Piskin, Cuneyt Kayaalp, Sezai Yilmaz
Journal: Case Rep Transplant (2012)

We report the reuse of a liver graft after brain death of the first recipient. The liver donor was an 8-year-old male who died as a result of head injury. The graft was implanted first to a 4-year-old girl for fulminant hepatic failure. Unfortunately she developed progressive coma and brain death on fifth day of transplantation. The graft functions were normal, and reuse of the liver graft was planned. After informed consent, the graft was transplanted to a 31-year-old female recipient who has hepatocellular carcinoma with an underlying cryptogenic liver cirrhosis. The patient was discharged to home on 9th day after an uneventful postoperative period. However, she was readmitted to hospital with an acute abdominal pain 30 days after the operation. Hepatic artery thrombosis was diagnosed, and the attempt to open the artery by interventional radiology was unsuccessful. She died of sepsis and multiorgan failure on 37th posttransplant day.
Adenocarcinoma arising in an ectopic enterogenous cyst: A rare case report and review of literature
Authors: Haina Du, Dachao Xu, Shuhui Zhang, Xinliang Zhang, Mingzhi Fang, Min Li
Journal: Front Oncol (2022)
Keywords: adenocarcinoma, anterior sacral, enterogenous cyst, malignant transformation, soft tissue
MeSH terms: Case Reports

Enterogenous cyst (EC) is a rare congenital lesion generally located in the central nervous system, such as in the cerebral hemispheres, posterior fossa, or spinal canal. They are usually benign lesions, and malignant transformation is rare. A 42-year-old woman felt an obvious pain in the lump and went to a local hospital for local lumpectomy. After 7 months, she again felt pain in the buttocks and difficulty in urinating and defecation. The computed tomography (CT) scan showed a mass in the pelvis. Sacrococcygeal cyst excision was performed 10 days later, and postoperative pathology showed epidermoid cyst. Shortly after, the patient recovered and was discharged from the hospital; the pain in the buttocks continued to recur. Puncture and drainage were performed five times. Later, the patient went to our hospital for treatment, and pelvic MRI showed multiple abnormal signal shadows in the presacral and sacrococcygeal regions, some of which were considered abscesses, and some were cystic lesions. She underwent tumor resection and was diagnosed with EC with locally moderately differentiated adenocarcinoma. Four months later, the patient's symptoms of swelling and pain recurred. MRI examination showed multiple high-signal T2 shadows in the anterior sacral and subcutaneous tissues of the buttocks, and enhanced scan showed partial marginal enhancement. After assessment, the patient was given a radiation dose of 60 Gy/25F. ECs in the anterior sacral and soft tissue of the buttocks are very rare, and the case of carcinomatous transformation has never been reported. Therefore, we discussed the clinicopathological features of ectopic ECs and reviewed the literature.