OpenMed/multicare-articles huggingface dataset:
Molecular and Genetic Insights into Thoracic Aortic Dilation in Conotruncal Heart Defects
Authors: W Aaron Kay
Journal: Front Cardiovasc Med (2016)
Keywords: aortic aneurysm, aortic dissection, conotruncal, tetralogy of fallot, transposition of great arteries, truncus arteriosus
MeSH terms: Review

Thoracic aortic dilation (AD) has commonly been described in conotruncal defects (CTDs), such as tetralogy of Fallot, double outlet right ventricle and transposition of the great arteries, and truncus arteriosus. Several theories for this have been devised, but fairly recent data indicate that there is likely an underlying histologic abnormality, similar to that seen in Marfan and other connective tissue disease. The majority of aortic dissection in the general population occurs after the age of 45 years, and there have been very few case reports of aortic dissection in CTD. Given advances in cardiac surgery and increasing survival over the past several decades, there has been rising concern that, as patients who have survived surgical correction of these defects age, there may be increased morbidity and mortality due to aortic dissection and aortic regurgitation. This review discusses the most recent developments in research into AD in CTD, including associated genetic mutations.
Abnormality in the Morphogenesis of Tooth Development and Relationship with Orthodontic Deformities and Treatment Approaches
Authors: Greta Roussanova Yordanova-Kostova, Mario Vaskov Grancharov, Gergana Diyanova Gurgurova
Journal: Case Rep Dent (2021)
MeSH terms: Case Reports

In the process of odontogenesis, a disturbance in the formation of the epithelium and mesenchyme can be observed and this can be manifested by atypical forms of dental development. Such biological phenomena with altered morphology are as follows: dens invaginatus (DI), dens evaginatus (DE), talon cusps, and double teeth (DT) or connate teeth (fusion and gemination). Patients with orthodontic anomalies who also exhibit teeth with morphogenetic disorders are presented in this article. Dens evaginatus and talon cusps pose orthodontic challenges in the treatment finishing phase. These reduce the possibility of achieving maximum intercuspidation between the lower and upper front teeth as well as poor incisor guidance. Other orthodontic challenges are as follows: the risk of occlusal trauma and periodontal loading of the antagonists and the possibility of accessory cusps to play the role of the inclined plane and lead to deviations in the closure of the lower jaw. The fused teeth can cause aesthetic and occlusal disturbances in the anterior segment. Furthermore, double teeth can lead to ectopic eruption or noneruption of adjacent teeth due to their increased crown size as is the case with one of the presented patients. This is because a double tooth occupies more space in the dental arch. If not diagnosed early, impaction of the adjacent tooth, violation of the occlusal ratios (Bolton/anterior), and exacerbation of the orthodontic deformity can be observed. The modern CBCT imaging is the best diagnostic method for identifying problems related to tooth positions or tooth germs.
Isolated skeletal muscle recurrence of an originally nodal diffuse large B cell lymphoma: A case report and review of the literature
Authors: Nikolaos Spetsieris, Nefeli Giannakopoulou, Eleni Variami, Konstantinos Zervakis, Niki Rougala, Georgios Garefalakis, Vasiliki Skarlatou, Nora-Athina Viniou, Panagiotis Diamantopoulos
Journal: Medicine (Baltimore) (2018)
MeSH terms: Lymphoma, Large B-Cell, Diffuse / diagnosis, Lymphoma, Large B-Cell, Diffuse / therapy, Muscle Neoplasms / diagnosis, Muscle Neoplasms / therapy, Muscle, Skeletal, Neoplasm Recurrence, Local / diagnosis, Neoplasm Recurrence, Local / therapy, Case Reports, Review, Aged, Female, Humans

Rationale:
Diffuse large B cell lymphoma (DLBCL) is a malignancy of the B cells with extranodal primary involvement being estimated at 30% to 40% of cases. Primary skeletal muscle presentation of DLBCL is extremely rare, with an estimated incidence of about 0.5% of extranodal lymphomas, presenting mostly in the lower extremities. The possible mechanisms of muscle involvement of DLBCL include primary extranodal disease, extension from adjacent organs (such as lymph nodes) or disseminated disease.
Patient concerns:
We report a case of a 70-year-old woman with an advanced initially nodal DLBCL, treated with R-CHOP, that presented with an enlargement of her left thigh and restricted mobility 3 months after completion of chemotherapy. Imaging studies were performed, which showed possible infiltration of the muscles of the left thigh, without any nodal disease present.
Diagnoses:
Muscle biopsy documented the recurrence of the lymphoma at the left thigh.
Interventions:
The patient started second-line treatment with gemcitabine and vinorelbine.
Outcomes:
A partial response was achieved after the first cycle.
Lessons:
The remarkable element lies in the reappearance of the lymphoma at the left thigh muscles, with no radiographic or clinical evidence of involvement of lymph nodes, despite the extensive lymph node disease at initial presentation. The further management of such recurrences remains to be clarified, as the odd biological behavior of the malignant cells dictates a special handling of the disease.
The value of programmable shunt valves for the management of subdural collections in patients with hydrocephalus
Authors: Dimitrios Pachatouridis, George A Alexiou, Evaggelos Mihos, George Fotakopoulos, Spyridon Voulgaris
Journal: ScientificWorldJournal (2013)
MeSH terms: Hydrocephalus / cerebrospinal fluid, Hydrocephalus / diagnostic imaging, Hydrocephalus / surgery, Ventriculoperitoneal Shunt / instrumentation, Ventriculoperitoneal Shunt / methods, Case Reports, Adolescent, Adult, Aged, Aged, 80 and over, Female, Follow-Up Studies, Humans, Male, Middle Aged, Radiography

Background:
The aim of the present study was to assess the value of electromagnetic programmable shunt valves for the treatment of subdural collections.
Methods:
Adult patients with hydrocephalus of various causes that were treated with programmable shunt valves during the last ten years were retrospectively studied. In 127 patients, 139 electromagnetic programmable shunt valves were implanted.
Results:
A nontraumatic subdural fluid collection was detected in 12 patients. The treatment of these patients consisted of reprogramming of the valve's opening pressure. In 5 patients small subdural hematomas were detected; 4 of these patients were treated by raising the opening pressure alone and one patient required surgical drainage and change of the pressure setting. Traumatic chronic subdural hematomas were detected in 6 patients. These patients were treated by surgical drainage and readjustment of the valve's opening pressure.
Conclusion:
The ability to treat a shunt-related complication, such as a subdural fluid collection, by reprogramming the valve's opening pressure to a higher setting is an advantage over nonprogrammable valves, and it enables the opening pressure to be slowly lowered once the fluid collection is reabsorbed. Based on our results, we believe that programmable shunt valves should be preferred.
Needle in a haystack-parathyroid gland in a 10-day old infant: a case report and literature review
Authors: Adel Ismail, Tariq O Abbas, Fawziya Al-Khalaf
Journal: ISRN Pediatr (2011)
MeSH terms: Case Reports

Neonatal severe primary hyperparathyroidism (NSPHT) is a rare autosomal recessive disorder of calcium homeostasis. It presents shortly after birth and is characterized by striking hyperparathyroidism, marked hypercalcemia, and hyperparathyroid bone disease. It is caused by mutations of the calcium-sensing receptor (CASR), the ionized calcium sensor for the parathyroid cells, the parafollicular thyroid C cells, and the kidney epithelium, as well as cells in bone and intestine. Without early intervention, which frequently requires surgical removal of the hyperplastic parathyroids, the patients often succumb to complications of hypercalcemia and respiratory failure. Finding the parathyroid gland in small neonates is not an easy task. Here we report on a patient with neonatal hyperparathyroidism who was treated by total parathyroidectomy and discuss the various ways of helping to find the parathyroid glands during surgery at this young age.
Heat Stroke with Status Epilepticus Secondary to Posterior Reversible Encephalopathy Syndrome (PRES)
Authors: Y H Koh
Journal: Case Rep Crit Care (2018)
MeSH terms: Case Reports

Heat stroke is a life threatening, multisystem disorder characterized by severe hyperthermia (core body temperature > 41.1°C) with central nervous system dysfunction and/or other end organ damage. Neurological complications, such as disturbances of consciousness, convulsion, profound mental change, disorientation, or even prolonged coma, were present in almost all cases of exertional heat stroke (EHS). We present a case of EHS with severe rhabdomyolysis and acute oliguric kidney injury in a 20-year-old healthy marathon runner, who developed status epilepticus on Day 4 of his admission. The patient was managed in ICU with renal replacement therapy and aggressive seizure control. He made a full recovery after 2 weeks of ICU stay. Diagnosis of EHS with posterior reversible encephalopathy syndrome (PRES) secondary to acute kidney injury was made.
Improving working memory abilities in individuals with Down syndrome: a treatment case study
Authors: Hiwet Mariam Costa, Harry R M Purser, Maria Chiara Passolunghi
Journal: Front Psychol (2015)
Keywords: down syndrome, cognitive intervention, short term memory, training, working memory

Working memory (WM) skills of individuals with Down's syndrome (DS) tend to be very poor compared to typically developing children of similar mental age. In particular, research has found that in individuals with DS visuo-spatial WM is better preserved than verbal WM. This study investigated whether it is possible to train short-term memory (STM) and WM abilities in individuals with DS. The cases of two teenage children are reported: EH, 17 years and 3 months, and AS, 15 years and 11 months. A school-based treatment targeting visuo-spatial WM was given to EH and AS for six weeks. Both prior to and after the treatment, they completed a set of assessments to measure WM abilities and their performance was compared with younger typically developing non-verbal mental age controls. The results showed that the trained participants improved their performance in some of the trained and non-trained WM tasks proposed, especially with regard to the tasks assessing visuo-spatial WM abilities. These findings are discussed on the basis of their theoretical, educational, and clinical implications.
Syphilitic hepatitis; a rare manifestation of a common disease
Authors: Flávio G Pereira, Mariana S Leal, Daniela Meireles, Susana Cavadas
Journal: Gastroenterol Hepatol Bed Bench (2021)
Keywords: acute hepatitis, immunocompetent patient, secondary syphilis, sexually transmitted infection, syphilitic hepatitis
MeSH terms: Case Reports

Syphilis is a sexual transmitted disease caused by Treponema pallidum and an underdiagnosed and underreported cause of acute hepatitis. In recent years, reported cases of primary and secondary syphilis have been increasing, mostly in men who have sex with men. Clinical manifestations of syphilis are diverse, earning the name of "the great imitator" which can affect virtually any organ. Nonetheless, hepatic involvement is rare, but it can occur at any stage of the disease. We present the case of a 41-year-old immunocompetent male, that presents to us with a cholestatic hepatitis and a diffuse erythematous rash with palmo-plantar affection. The patient had no history of primary syphilis. After throughout aetiologic study, he was diagnosed with syphilitic hepatitis and treated with intramuscular Benzathine benzylpenicillin, with the disappearance of the rash and normalization of liver enzymes after 3 months. We would like to highlight that this aetiology should be considered in patients with unexplained elevation of liver enzymes (mainly cholestatic enzymes) and an epidemiologic context of unsafe sexual exposure.
Case report: Bilateral sudden deafness in acute middle cerebellar peduncle infarction: central or peripheral?
Authors: Ziyun Yuan, Lei Xiang, Ran Liu, Wei Yue
Journal: Front Med (Lausanne) (2023)
Keywords: anterior inferior cerebellar artery, audiological examination, bilateral sudden sensorineural hearing loss, cochlear, middle cerebellar peduncle infarction, prognosis
MeSH terms: Case Reports

Background:
The middle cerebellar peduncle (MCP) is the most common site associated with hearing impairment in acute ischaemic stroke. Narrowing or occlusion of the vertebrobasilar artery due to atherosclerosis is thought to be the main pathogenesis of MCP infarction. Most previous reports of MCP infarction have not been clear whether the patient's hearing impairment is localized to the center or periphery.
Case presentation:
We report 44-year-old man with vertigo, tinnitus, and bilateral sudden sensorineural hearing loss (SSNHL) as the first symptoms. Pure Tone Audiogram revealed complete hearing loss in both ears. Acute bilateral MCP infarction was diagnosed by repeated brain magnetic resonance imaging (MRI). The brainstem auditory evoked potential (BAEP) and the electrocochleography were normal. The otoacoustic emissions showed binaural cochlear dysfunctions. After the antiplatelet, lipid-lowering, steroids and hyperbaric oxygen therapy, the pure-tone average (PTA) showed a clear improvement with 67 decibels (dB) on the right and 73 dB on the left at the 3-month follow-up.
Conclusion:
Vertebrobasilar diseases due to atherosclerosis should be routinely considered in middle-aged and elderly patients with vascular risk factors and bilateral hearing loss. Bilateral SSNHL can be a prodrome of acute MCP infarction and it can be peripheral. Brain MRI, brain magnetic resonance angiogram (MRA), brain and neck computed tomography angiography (CTA), BAEP, otoacoustic emissions, and Pure Tone Audiogram help to localize and qualify the diagnosis. Bilateral SSNHL localized to the periphery usually improves better and has a good prognosis. Early detection of hearing loss and intervention can help patients recover.
Trichobezoar-Induced Heartburn in a Teenage Girl: A Case Report
Authors: Shahrazad Akbar, Lujayn Akbar, Nuralhuda Akbar, Ali Nawras
Journal: J Investig Med High Impact Case Rep (2018)
Keywords: abdomen, abdominal pain, bezoars, gastric outlet obstruction, heartburn, trichobezoar, trichophagia, trichotillomania

One of the most commonly encountered medical problems affecting all age groups in health care is abdominal pain. There are many surgical and medical causes behind this symptom; however, a rare cause of abdominal pain and other unspecific abdominal complaints are gastric bezoars. Gastric bezoars are defined as the accumulation of undigested or partially digested foreign materials in the stomach. They are typically found incidentally during upper endoscopy. Patients may present with abnormal behavior or eating disorders such as pica. Therefore, proper history taking and establishing a good rapport with the patient play a key role in diagnosis. We present a case of trichobezoar-induced heartburn in an 18-year-old female. In this article, we will discuss the types, risk factors, clinical picture, diagnosis, and treatment of this condition.
CT and MR of recurrent primary cutaneous adenoid cystic carcinoma with multiple metastases
Authors: Asik Ali Mohamed Ali, Praveen Sharma, Rujuta Rege, C Seena, N Kulasekaran, Saveetha Rajesh
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Primary cutaneous adenoid cystic carcinoma is a rare slow-growing neoplasm, with limited literature reporting the involvement of the scalp. It has a tendency to recur locally; however, lymph node, distant pulmonary and bony metastases are exceptionally rare. We highlight the case of a 65-year-old female with primary cutaneous adenoid cystic carcinoma with distant pulmonary and bony metastases and the importance of imaging in diagnosing distant metastasis and perineural spread.
Management of Pulmonary Artery Aneurysms in Pulmonary Hypertension: A Single-Center Review of 3 Cases
Authors: Talha Ahmed, Gautam V Ramani, Mehrdad Ghoreishi, Ayesha Safdar, Bartley P Griffith
Journal: Case Rep Cardiol (2019)
MeSH terms: Case Reports

Pulmonary artery aneurysms (PAAs) are defined as having pulmonary artery diameter of greater than 40 mm. PAAs are rare and can occur in various pulmonary diseases. There are no clear-cut guidelines regarding the management of PAAs, and recommendations for management are made based on expert consensus opinion, case reports, and institutional experience. This series highlights three patients with pulmonary hypertension (PH) and PAA. The clinical course and diagnostic findings and the decision-making involved in the treatment are reviewed. An overview of three distinct management strategies including medical management, heart/lung transplant, and surgical aneurysm repair is presented.
Antenatally diagnosed ovarian cyst with torsion managed laparoscopically
Authors: A K Singal, K G Vignesh, Sarah Paul, John Matthai
Journal: J Indian Assoc Pediatr Surg (2008)
Keywords: laparoscopy, neonate, ovarian cyst
MeSH terms: Case Reports

Ovarian cyst are the most common intra-abdominal cyst in female neonate. With the help of ultrasound one can make an antenatal diagnosis. We present one such neonate, she was managed by laparoscopic excision. We conclude that neonatal laparoscopy is technically feasible for management of such cysts.
Case Report: Long-Term Survival of a Pediatric Patient With an Intra-Abdominal Undifferentiated Carcinoma of Unknown Primary
Authors: Anja Stirnweiss, Hetal Dholaria, Joyce Oommen, Kathy Hardy, Gareth Jevon, Alex H Beesley, Rishi S Kotecha
Journal: Front Oncol (2021)
Keywords: fancm2, smarcd2, carcinoma of unknown primary (cup), case report, pediatric
MeSH terms: Case Reports

An 8-year and 10-month-old boy presented following 2 weeks of abdominal pain, vomiting, constipation, and rectal pain. A diffuse lower-abdominal mass was felt upon palpation, with radiological findings confirming the presence of a large, multilobulated intraperitoneal mass with mesenteric lymphadenopathy and hepatic metastatic disease. A biopsy of the mass revealed anatomical pathological findings consistent with a diagnosis of intra-abdominal undifferentiated carcinoma of unknown primary (CUP). The patient was treated with six cycles of carboplatin and gemcitabine prior to surgery. Following incomplete resection of the tumor, four further cycles were administered resulting in resolution of the pelvic mass, but progression in the right and left lobes of the liver. Therapy was accordingly adjusted, with administration of six cycles of ifosfamide and doxorubicin followed by 1 year of metronomic vinorelbine and cyclophosphamide maintenance therapy. The patient remains in remission 7 years from completion of therapy. Whole exome sequencing revealed missense mutations in the DNA-repair and chromatin-remodeling genes FANCM and SMARCD2, and a tumor-derived cell line revealed a complex karyotype suggesting chromosomal instability. CUP is an extremely rare diagnosis in the pediatric population, previously reported during adolescence. This report provides detailed characterization of CUP in a young child and in the absence of defined therapeutic guidelines for pediatric CUP, the successful treatment strategy described should be considered for similar cases.
Case Report: Eosinophilic Myenteric Ganglionitis in a Child With Hirschsprung's Disease: A Challenge in Pseudo-Obstruction
Authors: Enza D'Auria, Valeria Calcaterra, Luciano Maestri, Milena Meroni, Giorgio Giuseppe Orlando Selvaggio, Vincenzo Villanacci, Manuela Nebuloni, Gloria Pelizzo
Journal: Front Pediatr (2021)
Keywords: hirschsprung's disease, children, diagnosis, endoscopy, eosinophilic myenteric ganglionitis, pseudo- obstruction
MeSH terms: Case Reports

Introduction: The presentation of eosinophilic myenteric ganglionitis (EMG) can be similar to that of Hirschsprung's disease (HD). In a limited number of cases of pediatric patients, the diagnosis of both EMG and HD are reported. A case of pseudo-obstruction in EMG occurring in a child with HD diagnosis is discussed with literature review. Case Presentation: A boy aged 2 years and 6 months presented with intractable constipation and abdominal distension. Histological HD diagnosis was carried out and transanal Soave pullthrough was performed. At the age of 3 years and 2 months, an infectious enterocolitis occurred. One month later, he presented with constipation, marked abdominal distension and melena. Full thickness colonic biopsies revealed eosinophilic myenteric ganglionitis. Specific IgE tests were positive for several foods. Dietary exclusion was adopted with resolution of clinical symptoms and histologic remission. Conclusion: EMD may occur in patients with HD. At the onset, EMD may be associated with functional intestinal obstruction. The use of an elimination diet proved effective for the relief of symptoms. Long term follow-up is mandatory to define the timing of the reintroduction of foods.
Combination of Carbon Dioxide Angiography and Outback® Elite for Revascularization of a Patient with Renal Insufficiency with Bilateral Femoropopliteal Chronic Total Occlusions
Authors: Yuhei Nojima, Shinsuke Nanto, Hidenori Adachi, Madoka Ihara, Tetsuya Kurimoto
Journal: Case Rep Cardiol (2017)
MeSH terms: Case Reports

A new reentry device (Outback Elite) system has been available in Japan since June 2016. This new device enables easier treatment of chronic total occlusion (CTO) in the lower extremities. We report a case of a woman in her 70s who underwent revascularization using this new device twice to treat both of her femoropopliteal CTO lesions. She was referred to our hospital complaining of intermittent claudication in both legs. She had a long history of diabetes mellitus complicated with severe chronic kidney disease. Her estimated glomerular filtration rate was <20. She refused surgical revascularization; therefore, we performed our treatment without iodine contrast medium. First, magnetic resonance imaging was performed to confirm that the CTO lesions had caused severe claudication before intervention. Subsequently, the Outback Elite device and carbon dioxide (CO2) angiography made it possible to revascularize both of her legs without iodine contrast medium. At 6 months after the procedures, we did not observe exacerbation of claudication in her legs.