OpenMed/multicare-articles huggingface dataset:
Two Unrelated Iranian Patients with Adenosine Deaminase 2 Deficiency: A Case Report and Review of Treatment
Authors: Parvaneh Karimzade, Aziz Eghbali, Mohammad Keramatipour, Reza Shiari, Zahra Golchehre, Mahdieh Taghizadeh, Mazdak Fallahi, Shahrzad Fallah, Nasrin Khakbazan Fard, Narges Eslami, Narges Bazgir, Mahnaz Jamee, Zahra Chavoshzadeh
Journal: Case Reports Immunol (2024)
MeSH terms: Case Reports

Background:
Adenosine deaminase deficiency 2 (DADA2) is an autoinflammatory disorder, caused by the CECR1 gene mutation. The major clinical manifestations include recurrent vasculitis, neurological disorders such as stroke, hematologic abnormalities, and immunodeficiency. As reported in previous studies, DADA2 may be manifested by ischemic or hemorrhagic strokes. This disorder also includes various hematological manifestations (pure red cell aplasia, pancytopenia, hemolytic anemia, and pancytopenia with bone marrow involvement). Case Presentation. In this case report, we present the clinical and immunological findings of two unrelated patients with DADA2. The first patient was a 7-year-old female who experienced recurrent neurological symptoms such as vertigo, tinnitus, hearing loss, and right-sided hemiparesis. Her brain magnetic resonance imaging (MRI) revealed a left-sided stroke, and she responded well to antitumor necrosis factor alpha agents and plasmapheresis. The second patient was a 6-year-old female who had recurrent fever and bicytopenia, aphthous lesions, cervical lymphadenopathy, and elevated liver enzymes. We also discussed the strategies used to manage the clinical manifestations in these two DADA2 patients.
Conclusion:
In this case report, we discussed two cases with DADA2 deficiency and their respective manifestations. The first case showed neurological symptoms while the second case had hematological symptoms. Although there is no established treatment for DADA2 due to its rarity, steroids are commonly used to treat this disorder. Antitumor necrosis factor is also effective in controlling the symptoms, especially the neurological ones. In cases where there is no appropriate response to these treatments, hematopoietic stem cell transplantation can be beneficial.
Complete Transection of the Abdominal Wall Secondary to Being a Rear Seat-Belted Passenger
Authors: Jamshed Zuberi, Yousef Masoudpoor, Severija Saladziute, Emma Morel, Daniel Garcia, Diya Khetan, Erem Tutal, Natasha Becker, Peter Park, Stephanie Bonne
Journal: Case Rep Surg (2024)
MeSH terms: Case Reports

Garrett and Braunstein introduced the concept of the "seat belt sign" in motor vehicle collision (MVC) victims. They defined this as abdominal wall bruising from a lap belt. These signs of trauma are not uncommon. However, "seat belt syndrome," a pattern of musculoskeletal and internal organ injuries resulting from deceleration forces exerted by the safety device is rarely seen. Here, we illustrate a case of traumatic closed rupture of the rectus abdominis muscle secondary to seat belt injury. This potential injury is important to recognize and our case will illustrate the need for careful imaging review and clinical assessment to identify associated intra-abdominal injuries.
An Unusual Presentation of Streptococcus gallolyticus in Infective Endocarditis
Authors: Laura Torres Cruz, Maryam Barkhordarian, Neenu Antony, Muhammad Yasir, Sai Priyanka Pulipaka, Ahmad Al-Awwa, Sameh Elias
Journal: Case Rep Cardiol (2023)
MeSH terms: Case Reports

Background. Streptococcus gallolyticus (previously known as Streptococcus bovis type-1) bacteremia has a well-established, almost pathognomonic association with colorectal carcinoma, with the most common hypothesized mechanism being ulceration of polyps leading to hematologic dissemination. There are few reported cases of streptococcus bacteremia from other, seemingly benign sources like cellulitis or colonic adenomas. Hence, there is limited focus on skin and soft tissue infections leading to potentially fatal infective endocarditis. Case Presentation. We present a novel case of streptococcus bacteremia from uncommon sources like abdominal wall cellulitis or colonic adenoma leading to infective endocarditis as well as other manifestations, including osteomyelitis and discitis. This report highlights a unique case of streptococcus bacteremia with an uncommon origin, arising from abdominal wall cellulitis or colonic adenoma, ultimately resulting in the development of infective endocarditis. Furthermore, the patient presented with additional clinical manifestations, including osteomyelitis and discitis. Conclusions. Through our case report, we emphasize the importance of investigating uncommon sources like cellulitis when initial malignant workup is negative in streptococcus bacteremia and further elucidate the pathophysiology of streptococcus bacterial dissemination from nonmalignancy-related sources.
Making "cold" tumors "hot"- radiotherapy remodels the tumor immune microenvironment of pancreatic cancer to benefit from immunotherapy: a case report
Authors: Fan Tong, Yi Sun, Yahui Zhu, Huizi Sha, Jiayao Ni, Liang Qi, Qing Gu, Chan Zhu, Wenjing Xi, Baorui Liu, Weiwei Kong, Juan Du
Journal: Front Immunol (2023)
Keywords: immune checkpoint inhibitors, metastatic pancreatic cancer, radiotherapy, second-line treatment, tumor immune microenvironment
MeSH terms: Immunotherapy, Pancreatic Neoplasms, Case Reports, Research Support, Non-U.S. Gov't, Antigens, Neoplasm, Humans, Tumor Microenvironment, Antigens, Neoplasm

Immune checkpoint inhibitors have limited efficacy in metastatic pancreatic cancer due to the complex tumor immune microenvironment (TIME). Studies have shown that radiotherapy can cause cell lesions to release tumor antigens and then take part in the remodeling of the tumor environment and the induction of ectopic effects via regional and systemic immunoregulation. Here, we reported a case of advanced metastatic pancreatic cancer treated with immunotherapy combined with chemotherapy and radiotherapy and a sharp shift of the TIME from T3 to T2 was also observed. One hepatic metastasis within the planning target volume (PTV) was evaluated complete response (CR), the other one was evaluated partial response (PR) and 2 hepatic metastases outside the PTV were surprisingly considered PR. In the study, we found that immunotherapy combined with chemotherapy and radiotherapy achieved significant therapeutic benefits, which may provide a new strategy for the treatment of advanced pancreatic cancer.
The Effect of Superoxide Dismutase Mimetic Drug in an Infertile Patient With Thin Endometrium
Authors: Sanket Mahajan, Akash More, Shilpa Dutta, Namrata Chaudhary, Neha Nawale
Journal: Cureus (2024)
Keywords: autologous platelet-rich plasma (prp), infertility, reactive oxygen species (ros), recurrent implantation failure, thin endometrium
MeSH terms: Case Reports

It has been observed that nowadays, millions of couples struggle with infertility, which may be attributed to various conditions. In this case study, a middle-aged couple with a history of recurrent implantation failure (RIF) visited an infertility clinic situated in a rural region in Wardha to seek treatment. The male was normozoospermic. After hysteroscopy, it was noticed that an aggregated level of reactive oxygen species (ROS) was a causative factor for thin endometrium contributing to infertility. The patient was advised to autologous platelet-rich plasma (PRP) treatment and temporary medication. A significant level of amelioration in endometrial thickness was observed, which significantly contributed to the chances of implantation. This resulted in a positive clinical pregnancy outcome for the patient. This case report highlights the fact that a combination of tempol with autologous PRP may contribute to an improved factor for the enhancement of endometrial hyperplasia, which may contribute to an improved in vitro fertilization (IVF) pregnancy outcome.
Genu Valgum, Fractures, and Renal Stones in a 10-year-old Girl
Authors: Stephanie Christensen, Lindsey A Loomba
Journal: JCEM Case Rep (2022)
Keywords: hypercalciuria, hypophosphatemia, phosphorus, rickets, vitamin d
MeSH terms: Case Reports

Rickets is a disorder of impaired bone mineralization that can arise from nutritional deficiencies and inherited conditions. We describe a 10-year-old girl presenting with genu valgum and a history of renal stones due to hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a rare inherited form of rickets characterized by high 1,25 vitamin D levels, hypophosphatemia with inappropriate renal phosphate wasting, and hypercalciuria. After the diagnosis was confirmed, she began treatment with phosphorus supplementation and stopped taking vitamin D, leading to improved bone mineral density and reduction in renal symptoms. Patients with HHRH can be distinguished from those with other forms of hypophosphatemic rickets by their high 1,25 vitamin D levels in conjunction with low to normal parathyroid hormone and fibroblast growth factor 23 (FGF23) levels. Genetic testing for SLC34A3 variants provides a definitive diagnosis.
Case report: A rare case of hereditary hemochromatosis caused by a mutation in the HAMP gene in Fuyang, China
Authors: Jinling Wang, Jing Xu, Ning Jiang, Hui Liu, Fengcheng Li, Beibei Wang, Jin Wang, Ziyu Chu, Lin Tan, Shasha Li
Journal: Front Med (Lausanne) (2024)
Keywords: bloodletting, gene mutation, hemochromatosis, iron metabolism, siderosis
MeSH terms: Case Reports

Hemochromatosis, also known as siderosis, is a disease caused by excessive iron deposition in human organs and tissues, resulting from iron metabolism disorders. It is clinically characterized by skin pigmentation (bronze color), liver cirrhosis, diabetes, weakness, and fatigue. Additional symptoms may include arthritis, hypothyroidism, heart failure, and sexual hypofunction. Clinical manifestations can vary from person to person, with a few patients showing no clinical manifestations, which makes the diagnosis difficult for clinicians. In this case report, we described hereditary hemochromatosis related to a mutation in the HAMP gene in Fuyang City, China, as a reference for clinicians. Hereditary hemochromatosis is rarely reported in China. Clinicians in China have relatively insufficient knowledge of this disease, which leads to frequent misdiagnosis. In this case report, we describe hereditary hemochromatosis related to HAMP gene mutation in Fuyang City, China, for the clinician's reference.
Re-irradiation of a Classic Kaposi's Sarcoma Using Volumetric Modulated Arc Therapy
Authors: Zhe Chen, Steven Daveluy, Geoff Baran, Michael Joiner, Steven Miller
Journal: Cureus (2024)
Keywords: clinical dermatology, kaposi sarcoma hiv negative, radiation and clinical oncology, re-irradiation, volumetric-modulated arc therapy
MeSH terms: Case Reports

A black male in his 60s diagnosed with classic Kaposi's sarcoma presented with multiple cutaneous nodules and edema of the right foot and lower leg. He was initially treated with alitretinoin 1% topical treatment. However, 16 months after treatment with the alitretinoin, the skin lesions progressed, and he subsequently underwent a course of radiation therapy to a total dose of 2000 centigrays (cGy) in five fractions to his right foot and lower extremities. Approximately 1.5 years after the radiation therapy was completed, multiple new lesions developed on the right foot and distal lower leg. He then underwent a course of re-irradiation to this area using volumetric modulated arc therapy (VMAT) to a total dose of 3300 cGy in 11 fractions. At a four-week follow-up visit, the skin lesions had completely resolved; however, the patient experienced mild edema and tenderness of the right foot and lower leg. Although long-term outcomes need to be followed, re-irradiation showed positive short-term outcomes for classic Kaposi's sarcoma.
Managing venous thrombosis in a pediatric patient with short bowel and congenital nephrotic syndromes: a case report emphasizing rivaroxaban level monitoring
Authors: Marc Bosch-Schips, Gonzalo Artaza, Carlos Hernández-Mata, Víctor Pérez Beltrán, Vanessa Cabello Ruiz, Pável Olivera Sumire
Journal: Front Pediatr (2024)
Keywords: anticoagulation, congenital nephrotic syndrome, direct action anticoagulants, short bowel syndrome, thrombosis
MeSH terms: Case Reports

Direct Oral Anticoagulants (DOACs) typically exhibit a predictable pharmacokinetic and pharmacodynamic response at a fixed dose, not necessitating monitoring under standard conditions. Yet, in specific clinical scenarios that can impair it, like Congenital Nephrotic Syndrome (CNS) or Short Bowel Syndrome (SBS) due to absorption issues, anti-thrombin III (AT-III) deficiency and non-selective proteinuria, adjusting the dosage to achieve appropriate plasma concentrations could prove beneficial. We report a 3-month-old female with catheter-related jugular thrombosis affected by CNS concomitant to SBS and failure of both treatments with heparin and warfarin, that was switched to dose-adjusted pediatric rivaroxaban. Rivaroxaban was adjusted to reach peak levels between 189 and 419 ng/ml and the lower trough levels between 6 and 87 ng/ml. Increasing doses were needed due to SBS related malabsorption but a complete permeabilization of the vein was achieved without bleeding complications. The use of anti-Xa adjusted rivaroxaban could be an alternative to improve anticoagulation and secondary thromboprophylaxis in pediatric patients SBS and an option to children with CNS.
An Oral Odyssey: Navigating the Complexity of Impacted Parapremolars and Paramolars in the Oral Landscape!
Authors: Mrudula Shinde, Pallavi Daigavane, Ranjit Kamble, Nishu Agarwal, Dhwani Suchak, Utkarsha S Chaudhari
Journal: Cureus (2024)
Keywords: dental follicle, impacted, paramolar, parapremolar, supernumerary teeth
MeSH terms: Case Reports

Supernumerary molars are an uncommon anomaly that can occur in the maxillofacial complex, referring to the presence of additional teeth in the dental arch. This condition is often associated with several rare disorders such as Gardner's syndrome, Cleidocranial dysplasia, Ehler-Danlos syndrome, and Down syndrome However, it is seldom observed in non-syndromic associations. They occur more frequently in the maxilla than in the mandible. This research represents a unique case study that explores unerupted paramolar and parapremolar follicles coexisting in both the maxillary and mandibular arches of a 17-year-old male patient. The discovery of these follicles was fortuitous, as the patient exhibited no symptoms during the initial orthopantomogram scan. Despite the absence of noticeable symptoms, vigilant monitoring and observation were employed over time. Subsequently, a substantial shift in the approach to management occurred with the integration of surgical and orthodontic methodologies, guided eruption strategies, and a collaborative, multidisciplinary effort.
Case Report: Intravascular ultrasound-guided management of acute myocardial infarction in a rare coronary artery case with multiple ostia and varied lesions
Authors: Huabin He, Qin Ao, Jianhai Chen, Jun Zhang, Xiangyang Yuan
Journal: Front Cardiovasc Med (2024)
Keywords: acute myocardial infarction, anomalous origin of the coronary artery (aoca), coronary artery anomalies (caas), coronary artery intervention treatment, intravascular ultrasound (ivus), the right circumflex artery (rcx)
MeSH terms: Case Reports

Anomalous origin of the coronary artery (AOCA) in coronary arteries represent a rare congenital variation, especially when three or more openings coexist, accompanied by conditions such as myocardial infarction, acute heart failure, and severe stenosis in three vessels, making it even rarer. This study reports a rare case of a patient admitted for the first time with acute myocardial infarction. Coronary angiography revealed four openings, along with the aforementioned rare conditions. Guided by intravascular ultrasound (IVUS), treatments were administered for different lesions in various vessels. IVUS confirmed a rare case with a 1 mm extremely short left main coronary artery and three openings. The two-year follow-up results for this patient are deemed satisfactory, indicating a favorable prognosis.
EMDR in pediatric hospital setting: a case report of an adolescent with cancer
Authors: Sabrina Ciappina, Elvia Roccia, Deborah Concas, Elisa Faretta, Isabel Fernandez, Paola Quarello, Giulia Zucchetti, Franca Fagioli
Journal: Front Psychol (2024)
Keywords: emdr, adolescents, cancer, case report, pediatric hospital, pediatric oncology, psychotherapy
MeSH terms: Case Reports

Introduction:
Childhood cancer is rare, but it is the most frequent serious event with a high risk of traumatization for children, adolescents, parents and siblings. EMDR is widely studied as clinical intervention that addressed cancer-related stressors among cancer adult population, but to our knowledge, no researches have been conducted among children and adolescent with cancer.
Methods:
The purpose of this case study is to describe for the first time the application of the EMDR protocol in a pediatric hospital setting with a 17-years-old Italian adolescent who received a diagnosis of leukemia. He accessed the psychological support service complaining of feelings of anxiety and general discomfort. EMDR protocol started after the diagnosis and ended after the usual eight phases. The Impact of Event Scale-Revised (IES-R) was used to assess stress disorders symptoms as outcome at the baseline (before the First Phase) and at the end of the EMDR protocol (after the Eight Phase).
Results:
By using EMDR protocol the patient reported a decrease of emotional activation after a few EMDR sessions.
Conclusion:
EMDR protocol may be effective for pediatric cancer patients in treating stress disorders symptoms and it can be proposed immediately after diagnosis as a standard care also in pediatric hospital setting.
Digital Ischemia in an Extreme Preterm Infant Treated with Nitroglycerin Patch
Authors: Mansour Al Qurashi, Abdulaziz Al-Khotani, Farzeen Mohtisham, Eman AlRaddadi, Heba AlShaikh, Alqassem Y Hakami, Syed Sameer Aga
Journal: Case Rep Pediatr (2024)
MeSH terms: Case Reports

Ischemic limb lesions occasionally occur in neonates admitted to neonatal intensive care units. Known risk factors include the placement of arterial catheters, arterial punctures to obtain blood samples, and the use of vasoactive/vasopressor medications for hypotension. Prolonged peripheral tissue ischemia may result in serious complications, and successful management depends on early detection, proper assessment, and the institution of appropriate intervention. Currently, there is no standard approach for the management of peripheral tissue ischemia in extreme preterm infants. Topical nitroglycerine use is one of the promising options used to manage ischemic limb injuries in neonates, as demonstrated in several case reports. We report a case of digital ischemia in an extreme preterm infant with no clear risk factors except extreme prematurity, which recovered after topical nitroglycerine therapy.
The management of a duodenal fistula involving the right hepatic duct: a rare case report
Authors: Qiu Ming, Yang Jun, Luo Nai-Wen, Cao Lei, Fan Yu-Dong, Wang Shu-Guang
Journal: Front Med (Lausanne) (2024)
Keywords: bile duct injury, bile duct stenosis, biliary anatomy, choledochoduodenal fistula, the right hepatic duct
MeSH terms: Case Reports

The formation of an internal fistula between the biliary system and the gastrointestinal tract is a rare condition with various etiologies, predominantly associated with recurrent chronic inflammation of the biliary system and tumors. Patients with this condition may lack specific clinical manifestations, presenting with symptoms such as abdominal pain, fever, jaundice, or may show no clinical signs at all. Common types of internal fistulas include cholecystoduodenal fistula, cholecystocolonic fistula, and choledochoduodenal fistula. Among these, the right hepaticoduodenal fistula is extremely rare and seldom reported in clinical literature. We herein report a case of right hepaticoduodenal fistula and analyze its mechanism, treatment principles, and preventive measures through a literature review.
A Novel Case of a Massive Amebic Liver Abscess in the Setting of Uncontrolled Diabetes Mellitus and Concurrent Pulmonary Embolism
Authors: Mohamed Ismail, Menna-Allah Elaskandrany, Sahiba Singh, Natalia Chmielewska, Weizheng Wang
Journal: Cureus (2024)
Keywords: amebic liver abscesses, bacterial liver abscess, elevated liver enzyme, pulmonary embolism (pe), right upper quadrant abdominal pain, uncontrolled diabetes mellitus
MeSH terms: Case Reports

Amebic liver abscesses (ALAs), one of the most common extraintestinal manifestations of invasive amebiasis, pose diagnostic challenges due to their various clinical presentations and difficulty in distinguishing them from pyogenic abscesses. This case presentation highlights the intricacy of determining the source of an unusually large liver abscess that had an even rare occurrence of a coinciding pulmonary embolus without any evidence of a deep vein thrombosis. This unusual combination underscores the challenges in identifying and managing atypical cases of ALA and emphasizes the need for more comprehensive data to enhance our understanding of such occurrences.
Evaluation of Awareness and Attitude of Telemedicine among Primary Healthcare Workers in Deprived Area Health Centers
Authors: Mahdi Mazandarani, Narges Lashkarbolouk, Mitra Hashemi
Journal: Int J Telemed Appl (2023)

Background:
Telemedicine has the potential to make healthcare more efficient, organized, and available and is a more beneficial technology that can ease preventive treatment and improve long-term health management. This is especially essential for those who face financial or regional reasons to get quality treatment. Telemedicine in Iran is a new medical field and a noble way to access medical facilities for populations living in deprived areas, and the primary healthcare workers in these deprived medical centers are the implementers of telemedicine in those areas; we aimed to investigate the awareness and attitude towards telemedicine among all the healthcare workers in these centers.
Method:
This is a descriptive cross-sectional study at the Health Centers of Raz County in North Khorasan Province, Iran, and 149 healthcare workers were included. For collecting information, we used a questionnaire that consisted of two parts. The first part contains the demographic data of health care workers, and the second part includes the 5-point Likert scale questionnaire (questions on telemedicine awareness, attitude, and self-report readiness).
Result:
Most participants (51%) were male, and 69.8% were married. The most frequent sources of information about telemedicine are colleagues (40.3%), continuing education (24.7%), and social media and the internet (10.1%). Awareness did not significantly relate to gender, age, marital status, or work experience, but awareness of physicians and midwives is higher than other groups (p < 0.05). The awareness of healthcare workers using continuing education, articles, workshops, or conferences was significantly higher (p < 0.05). The attitude scores for most questions are above 3.4 and reflect a positive attitude about telemedicine. Attitudes did not show a significant relation to gender, age, marital status, or work experience.
Conclusion:
Using telemedicine in developing countries, rural or urban areas have a high potential to improve epidemiological investigations, disease control, and clinical case management. Providing healthcare professionals with more information about new technologies in healthcare, such as telemedicine, can help get a more realistic picture of their perceptions.