OpenMed/multicare-articles huggingface dataset:
Molecular Diagnosis of Myoclonus Epilepsy Associated with Ragged-Red Fibers Syndrome in the Absence of Ragged Red Fibers
Authors: Sun Yeong Park, Se Hoon Kim, Young-Mock Lee
Journal: Front Neurol (2017)
Keywords: mitochondria, molecular diagnosis, muscle, myoclonus epilepsy with ragged-red fibers, pathology, ragged-red fibers
MeSH terms: Case Reports

Myoclonus epilepsy with ragged-red fibers (MERRFs), an inherited mitochondrial disorder, has characteristic morphological changes of ragged-red fibers (RRFs) in muscle biopsy, in the absence of which mitochondrial etiology is usually not considered in patients with phenotypes suggestive of MERRF. In these circumstances, MERRF can only be diagnosed using genetic analyses. The symptoms, pathological findings, and imaging results being age dependent, we can construct a protocol based on these characteristics to understand the disease's natural course and to manage patients more effectively. The absence of RRFs should not preclude a MERRF diagnosis.
Constructing optimal experience for the hospitalized newborn through neuro-based music therapy
Authors: Helen Shoemark, Deanna Hanson-Abromeit, Lauren Stewart
Journal: Front Hum Neurosci (2015)
Keywords: auditory environment, family centered practice, music therapy, neonatal intensive care unit, preterm infant, stimulation

Music-based intervention for hospitalized newborn infants has traditionally been based in a biomedical model, with physiological stability as the prime objective. More recent applications are grounded in other theories, including attachment, trauma and neurological models in which infant, parent and the dyadic interaction may be viewed as a dynamic system bound by the common context of the neonatal intensive care unit (NICU). The immature state of the preterm infant's auditory processing system requires a careful and individualized approach for the introduction of purposeful auditory experience intended to support development. The infant's experience of an unpredictable auditory environment is further compromised by a potential lack of meaningful auditory stimulation. Parents often feel disconnected from their own capacities to nurture their infant with potentially life-long implications for the infant's neurobehavioral and psychological well-being. This perspectives paper will outline some neurological considerations for auditory processing in the premature infant to frame a premise for music-based interventions. A hypothetical clinical case will illustrate the application of music by a music therapist with an infant and family in NICU.
Successful Salvage of Delayed Venous Congestion After DIEP Flap Breast Reconstruction
Authors: Kristopher Katira, Samita Goyal, Chelsea Venditto, John A LoGiudice, Erin L Doren
Journal: Eplasty (2019)
Keywords: diep flap, breast reconstruction, microsurgery, microvascular flap compromise, venous congestion
MeSH terms: Case Reports

Objective: Failure rates of microvascular autologous breast reconstruction are reportedly low. When failure of the microvascular anastomoses does occur, it is most likely to be salvaged if detected early. Flap compromise or venous congestion occurring several weeks later is uncommon and with significantly lower salvage rates. Methods: We present a unique case of delayed venous congestion of a single-perforator deep inferior epigastric perforator flap breast reconstruction in which the usual pedicle thrombosis was not identified. Presentation of the flap compromise occurred 72 hours postoperatively and again in the delayed setting 5 weeks after surgery, from suspected compression at the perforator level. Results: The deep inferior epigastric perforator flap was successfully salvaged with conservative measures, and the flap healed without fat necrosis or further complication. Conclusion: This case highlights the higher risk of flap compromise with reconstructions in a radiated field and potentially with single-perforator flaps.
Altered Mental Status and Cyanosis in a Pediatric Patient with Methemoglobinemia
Authors: Phillip M Grenz, Robert N Ray Jr, Olivia A Hardy, Andrew L Koons, Kenneth D Katz, Teresa M Romano
Journal: Case Rep Pediatr (2020)
MeSH terms: Case Reports

Methemoglobinemia results from increased amounts of oxidized hemoglobin in the blood with an ensuing change in oxygen dissociation curve and lack of oxygen delivery to tissue. A previously well, male toddler was brought to the Pediatric Emergency Department (PED) by Emergency Medical Services (EMS) with abrupt onset of altered mental status and cyanosis after a suspected ingestion of "Rush" nail polish remover. He was quickly diagnosed with methemoglobinemia by both clinical presentation and chocolate-colored blood appearance. He emergently received intravenous (IV) methylene blue (MB) with immediate and sustained improvement requiring no further doses. Though inhalation of nitrites and subsequent methemoglobinemia is frequently reported in adolescents, we were unable to find any cases in the literature detailing ingestion of this product and the resulting clinical manifestations. Our objective with this report is to describe a rare case of a toddler with an accidental ingestion of "Rush" nail polish remover, a nitrite compound. Our patient presented to the PED with abrupt onset of altered level of consciousness, hypotension, and cyanosis resulting from acquired methemoglobinemia. This case report demonstrates the importance of emergency clinicians being able to make clinical judgements and decisions based on the history and physical exam when methemoglobinemia is suspected.
Case Report: Precision Medicine Target Revealed by In Vitro Modeling of Relapsed, Refractory Acute Lymphoblastic Leukemia From a Child With Neurofibromatosis
Authors: Susan L Heatley, Elyse C Page, Laura N Eadie, Barbara J McClure, Jacqueline Rehn, David T Yeung, Michael Osborn, Tamas Revesz, Maria Kirby, Deborah L White
Journal: Front Oncol (2022)
Keywords: ph-like all, acute lymphoblastic leukemia, iamp21-all, neurofibromatosis, relapsed/refractory all
MeSH terms: Case Reports

Children with neurofibromatosis have a higher risk of developing juvenile myelomonocytic leukemia and acute myeloid leukemia, but rarely develop B-cell acute lymphoblastic leukemia (B-ALL). Through in-vitro modeling, a novel NF1 p.L2467 frameshift (fs) mutation identified in a relapsed/refractory Ph-like B-ALL patient with neurofibromatosis demonstrated cytokine independence and increased RAS signaling, indicative of leukemic transformation. Furthermore, these cells were sensitive to the MEK inhibitors trametinib and mirdametinib. Bi-allelic NF1 loss of function may be a contributing factor to relapse and with sensitivity to MEK inhibitors, suggests a novel precision medicine target in the setting of neurofibromatosis patients with B-ALL.
Case report: Psychosis and catatonia in an adolescent patient with adipsic hypernatremia and autoantibodies against the subfornical organ
Authors: Matthias Liebrand, Michael Rebsamen, Akari Nakamura-Utsunomiya, Luisa von den Driesch, Patrick Köck, Julien Caccia, Christoph Hamann, Roland Wiest, Michael Kaess, Sebastian Walther, Sibylle Tschumi, Takeshi Y Hiyama, Jochen Kindler
Journal: Front Psychiatry (2023)
Keywords: adipsic hypernatremia, autoimmune, case report, catatonia, encephalitis, psychosis, schizophrenia
MeSH terms: Case Reports

This is the first description of a patient in which adipsic hypernatremia, a rare autoimmune encephalitis, presented in combination with complex psychiatric symptomatology, including psychosis and catatonia. Adipsic hypernatremia is characterized by autoantibodies against the thirst center of the brain. These autoantibodies cause inflammation and apoptosis in key regions of water homeostasis, leading to lack of thirst and highly increased serum sodium. To date, the symptoms of weakness, fatigue and drowsiness have been associated with adipsic hypernatremia, but no psychiatric symptomatology. Here, we showcase the first description of an adolescent patient, in which severe and complex psychiatric symptoms presented along with adipsic hypernatremia. The patient experienced delusion, hallucinations, restlessness and pronounced depression. Further, he showed ritualized, aggressive, disinhibited and sexualized behavior, as well as self-harm and psychomotor symptoms. Due to his severe condition, he was hospitalized on the emergency unit of the child and adolescent psychiatry for 8 months. Key symptoms of the presented clinical picture are: childhood-onset complex and treatment-resistant psychosis/catatonia, pronounced behavioral problems, fatigue, absent thirst perception, hypernatremia and elevated prolactin levels. This case report renders first evidence speaking for a causal link between the autoimmune adipsic hypernatremia and the psychotic disorder. Moreover, it sheds light on a new form of autoimmune psychosis.
Rare Association between Giant Right Ventricular Myxoma and Right Coronary Artery Tumour Blush with Complicating Pulmonary Tumour Embolism
Authors: Robin Yeong Hong Goh, Shreeja Mehrotra, Stefan Buchholz, Deepak Mehrotra, Allison Morton
Journal: Case Rep Cardiol (2019)
MeSH terms: Case Reports

Cardiac myxoma is a benign primary cardiac tumour which can present with nonspecific symptoms of right heart failure, syncope, exertional dyspnea, and pulmonary embolism. We describe a case of a right ventricular myxoma complicated with bilateral pulmonary embolism, with an incidental right coronary artery fistula but otherwise normal coronary anatomy on coronary angiogram. This case report emphasizes the importance of performing a transesophageal echo in the setting of pulmonary embolism to search for the origin of thrombus/tumour, and performing a comprehensive assessment is also necessary to rule out coronary artery disease, coronary artery fistula that may also represent a tumour blush.
Gestational Diabetes Insipidus Associated with HELLP Syndrome: A Case Report
Authors: Renela Gambito, Michael Chan, Mohamed Sheta, Precious Ramirez-Arao, Harmeet Gurm, Allan Tunkel, Noel Nivera
Journal: Case Rep Nephrol (2012)

Gestational diabetes insipidus is a rare, but well recognized, complication of pregnancy. It is related to excess vasopressinase enzyme activity which is metabolized in the liver. A high index of suspicion of gestational diabetes insipidus is required in a correct clinical setting especially in the presence of other risk factors such as preeclampsia, HELLP syndrome, and twin pregnancies. We are presenting a case of gestational diabetes insipidus in a patient with HELLP syndrome. The newborn in this case also had hypernatremia thereby raising possibilities of vasopressinase crossing the placenta.
Osteopathic Manipulative Treatment Limits Chronic Constipation in a Child with Pitt-Hopkins Syndrome
Authors: Alessandro Aquino, Mattia Perini, Silvia Cosmai, Silvia Zanon, Viviana Pisa, Carmine Castagna, Stefano Uberti
Journal: Case Rep Pediatr (2017)
MeSH terms: Case Reports

Pitt-Hopkins Syndrome (PTHS) is a rare genetic disorder caused by insufficient expression of the TCF4 gene. Children with PTHS typically present with gastrointestinal disorders and early severe chronic constipation is frequently found (75%). Here we describe the case of a PTHS male 10-year-old patient with chronic constipation in whom Osteopathic Manipulative Treatment (OMT) resulted in improved bowel functions, as assessed by the diary, the QPGS-Form A Section C questionnaire, and the Paediatric Bristol Stool Form Scale. The authors suggested that OMT may be a valid tool to improve the defecation frequency and reduce enema administration in PTHS patients.
BHCMDA: A New Biased Heat Conduction Based Method for Potential MiRNA-Disease Association Prediction
Authors: Xianyou Zhu, Xuzai Wang, Haochen Zhao, Tingrui Pei, Linai Kuang, Lei Wang
Journal: Front Genet (2020)
Keywords: biased heat conduction, bipartite graph network, clustering algorithm, integrated similarity, mirna-disease association

Recent studies have indicated that microRNAs (miRNAs) are closely related to sundry human sophisticated diseases. According to the surmise that functionally similar miRNAs are more likely associated with phenotypically similar diseases, researchers have proposed a variety of valid computational models through integrating known miRNA-disease associations, disease semantic similarity, miRNA functional similarity, and Gaussian interaction profile kernel similarity to discover the potential miRNA-disease relationships in biomedical researches. Taking account of the limitations of previous computational models, a new computational model based on biased heat conduction for MiRNA-Disease Association prediction (BHCMDA) was proposed in this paper, which can achieve the AUC of 0.8890 in LOOCV (Leave-One-Out Cross Validation) and the mean AUC of 0.9060, 0.8931 under the framework of twofold cross validation, fivefold cross validation, respectively. In addition, BHCMDA was further implemented to the case studies of three vital human cancers, and simulation results illustrated that there were 88% (Esophageal Neoplasms), 92% (Colonic Neoplasms) and 92% (Lymphoma) out of top 50 predicted miRNAs having been confirmed by experimental literatures, separately, which demonstrated the good performance of BHCMDA as well. Thence, BHCMDA would be a useful calculative resource for potential miRNA-disease association prediction.
Case Report: Sequential Development of Three Mature Lymphoid Neoplasms in a Single Patient: Clonal Relationship and Molecular Insights
Authors: Chiara Salvetti, Candida Vitale, Valentina Griggio, Daniela Drandi, Rebecca Jones, Lisa Bonello, Riccardo Bomben, Alberto Bragoni, Davide Bagnara, Franco Fais, Valter Gattei, Federica Cavallo, Alberto Zamò, Marta Coscia
Journal: Front Oncol (2022)
Keywords: hodgkin lymphoma, ighv genes, richter’s syndrome, chronic lymphocytic leukemia, monoclonal b-cell lymphocytosis
MeSH terms: Case Reports

Two main variants of Richter syndrome (RS) are recognized, namely, the diffuse large B-cell lymphoma (DLBCL) and the Hodgkin's lymphoma (HL) variant. Clonal relationship, defined as an identity of the immunoglobulin heavy chain variable (IGHV) region sequence between chronic lymphocytic leukemia (CLL) and RS clones, characterizes patients with a poor prognosis. Due to method sensitivity, this categorization is performed without considering the possibility of small-size ancillary clones, sharing the same phenotype with the preexisting predominant CLL clone, but with different IGHV rearrangements. Here we describe and molecularly profile the peculiar case of a patient with a CLL-like monoclonal B-cell lymphocytosis (MBL), who sequentially developed a DLBCL, which occurred concomitantly to progression of MBL to CLL, and a subsequent HL. Based on standard IGHV clonality analysis, DLBCL was considered clonally unrelated to the concomitantly expanded CLL clone and treated as a de novo lymphoma, achieving a persistent response. Three years later, the patient further developed a clonally unrelated HL, refractory to bendamustine, which was successfully treated with brentuximab vedotin and radiotherapy, and later with pembrolizumab. We retrospectively performed additional molecular testing, by applying next-generation sequencing (NGS) of immunoglobulin repertoire (Ig-rep) techniques and a more sensitive allele-specific oligonucleotide-droplet digital PCR (ASO-ddPCR) strategy, in order to quantitatively investigate the presence of the rearranged IGHV genes in tumor specimens collected during the disease course. In this highly complex case, the application of modern and sensitive molecular technologies uncovered that DLBCL, initially considered as a de novo lymphoma, was instead the result of the transformation of a preexisting ancillary B-cell clone, which was already present at the time of first MBL diagnosis. A similar approach was also applied on the HL sample, showing its clonal unrelatedness to the previous MBL and DLBCL.
Primary aortoduodenal fistula presenting as a rare cause of upper gastrointestinal bleeding
Authors: Haitham Rejab, Sami Fendri, Ahmed Bouzid, Ayman Dammak, Hela Ben Jemaa, Ayman Trigui, Salah Boujelben
Journal: Clin Case Rep (2023)
Keywords: aortic aneurysm, aortoenteric fistula, primary aortoduodenal fistula
MeSH terms: Case Reports

Primary aortoduodenal fistula (ADF) is a serious life-threatening condition. Unlike secondary ADF which occurs in patients who had previous aortic prosthetic reconstruction, primary ADF is uncommon. Its diagnosis is often unsuspected until surgery or postmortem. We report a rare case of primary ADF presenting as massive gastrointestinal bleeding.
Advantages of Fluoroscopy for Accidental Ingestion of Multiple Magnets
Authors: Toshihiko Kakiuchi, Tetsuya Nosho
Journal: Case Rep Pediatr (2023)
MeSH terms: Case Reports

Foreign body ingestion is one of the common problems among children. A three-year-old girl presented to the emergency department 2 h after ingesting three small disk-type neodymium magnets. She had no gastrointestinal symptoms. Abdominal radiography revealed a foreign body in the left upper quadrant, which was the three circular magnets. Fluoroscopy was performed. She was placed in the right lateral decubitus position for 3 min and slowly returned to the supine position. Abdominal fluoroscopy revealed a foreign body migrating near the middle of the spine. Similarly, when she was placed in the left lateral decubitus position for 3 min and slowly returned to the supine position, the foreign body migrated to the outermost part of her left upper quadrant. Thus, we anticipated that the magnets could be excreted spontaneously. The patient did not develop any gastrointestinal symptoms after returning home, and two days later, three overlapping magnets were finally found in her stool. During accidental ingestion of single or multiple desk-type neodymium magnets, endoscopic removal may not be necessary if they are mobile and clump together in the stomach. Regarding the ingestion of multiple desk-type neodymium magnets, fluoroscopy is useful to determine the extent of endoscopic intervention.
Intertrochanteric fracture of the ankylosed hip joint treated by a gamma nail: a case report
Authors: Daichi Ishimaru, Satoshi Nozawa, Masato Maeda, Katsuji Shimizu
Journal: Case Rep Orthop (2012)

We herein report a rare case of an intertrochanteric fracture complicated with an ankylosed hip joint in a 76-year-old man. Generally, operative treatment is performed for elderly people with intertrochanteric fractures to prevent general complications, maintain mobility, and release pain. However, intertrochanteric fractures of ankylosed hip joints are rare, and the optimal surgery for this condition is unknown. In addition, surgical fracture repair is challenging because unusual instability of the fracture site is suspected owing to the long lever arm of the lower extremity. Nevertheless, we successfully treated this rare fracture using a gamma nail, which may be a useful implant with which to treat this type of fracture if the status of the arthrodesed hip joint allows.
Lhermitte's Sign Developing after IMRT for Head and Neck Cancer
Authors: Dong C Lim, Patrick J Gagnon, Sophia Meranvil, Darryl Kaurin, Linda Lipp, John M Holland
Journal: Int J Otolaryngol (2010)
MeSH terms: Case Reports

Background. Lhermitte's sign (LS) is a benign form of myelopathy with neck flexion producing an unpleasant electric-shock sensation radiating down the extremities. Although rare, it can occur after head and neck radiotherapy. Results. We report a case of Lhermitte's developing after curative intensity-modulated radiotherapy (IMRT) for a patient with locoregionally advanced oropharyngeal cancer. IMRT delivers a conformal dose of radiation in head and neck cancer resulting in a gradient of radiation dose throughout the spinal cord. Using IMRT, more dose is delivered to the anterior spinal cord than the posterior cord. Conclusions. Lhermitte's sign can develop after IMRT for head and neck cancer. We propose an anterior spinal cord structure, the spinothalamic tract to be the target of IMRT-caused LS.
Antisynthetase Syndrome with Severe Interstitial Lung Disease in Pregnancy
Authors: Catalina I Dumitrascu, David A Olsen, Katherine W Arendt, Carl H Rose, Emily E Sharpe
Journal: Case Rep Anesthesiol (2021)
MeSH terms: Case Reports

Antisynthetase syndrome is a rare multisystem autoimmune disorder which clinically manifests with myositis, arthritis, interstitial lung disease, Raynaud phenomenon, and skin hyperkeratosis. Lung involvement represents the most severe form of disease and has rarely been reported in pregnancy. We present the case of a 22-year-old woman with antisynthetase syndrome and severe restrictive pulmonary disease who experienced a successful pregnancy and delivery. We discuss anesthetic considerations and highlight the importance of a multidisciplinary team approach in caring for parturients with multifactorial medical conditions.
Hermansky-Pudlak syndrome type 2: A rare cause of severe periodontitis in adolescents-A case study
Authors: Jun Chen, Yifan Yang, Binjie Liu, Xiaoli Xie, Wenjie Li
Journal: Front Pediatr (2022)
Keywords: hermansky-pudlak syndrome type 2 (hps-2), adaptor protein complex 3 (ap3b1), genetics, juvenile, periodontitis

Background and aims:
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism (OCA) and platelet storage pool deficiency. The HPS-2 subtype is distinguished by neutropenia, and little is known about its periodontal phenotype in adolescents. AP3B1 is the causative gene for HPS-2. A 13-year-old Chinese girl presented to our department suffering from gingival bleeding and tooth mobility. Her dental history was otherwise unremarkable. Suspecting some systemic diseases as the underlying cause, the patient was referred for medical consultation, a series of blood tests, and genetic tests. In this case study, periodontal status and mutation screening of one HPS-2 case are presented.
Methods:
Blood analysis including a complete blood count (CBC) and glycated hemoglobin levels were measured. Platelet transmission electron microscopy (PTEM) was performed to observe the dense granules in platelets. Whole-exome sequencing (WES) and Sanger sequencing were performed to confirm the pathogenic variants.
Results:
A medical diagnosis of HPS-2 was assigned to the patient. Following the medical diagnosis, a periodontal diagnosis of "periodontitis as a manifestation of systemic disease" was assigned to the patient. We identified novel compound heterozygous variants in AP3B1 (NM_003664.4: exon7: c.763C>T: p.Q255*) and (NM_003664.4: exon1: c.53_56dup: p.E19Dfs*21) in this Chinese pedigree with HPS-2.
Conclusion:
This case study indicates the importance of periodontitis as a possible indicator of underlying systemic disease. Systemic disease screening is needed when a young patient presents with unusual, severe periodontitis, as the oral condition may be the first of a systemic abnormality. Our work also expands the spectrum of AP3B1 mutations and further provides additional genetic testing information for other HPS-2 patients.