OpenMed/multicare-articles huggingface dataset:
Amyloid-beta (Aβ) D7H mutation increases oligomeric Aβ42 and alters properties of Aβ-zinc/copper assemblies
Authors: Wei-Ting Chen, Chen-Jee Hong, Ya-Tzu Lin, Wen-Han Chang, He-Ting Huang, Jhih-Ying Liao, Yu-Jen Chang, Yi-Fang Hsieh, Chih-Ya Cheng, Hsiu-Chih Liu, Yun-Ru Chen, Irene H Cheng
Journal: PLoS One (2012)
MeSH terms: Alzheimer Disease / genetics, Amyloid beta-Peptides / genetics, Amyloid beta-Protein Precursor / genetics, Copper / chemistry, Peptide Fragments / genetics, Zinc / chemistry, Case Reports, Research Support, Non-U.S. Gov't, Alzheimer Disease / metabolism, Amino Acid Sequence, Amyloid beta-Peptides / chemistry, Amyloid beta-Protein Precursor / chemistry, Aspartic Acid / chemistry, Aspartic Acid / genetics, Base Sequence, Cells, Cultured, Copper / metabolism, Female, HEK293 Cells, Histidine / chemistry, Histidine / genetics, Humans, Middle Aged, Molecular Sequence Data, Mutation, Peptide Fragments / chemistry, Polymerization, Taiwan, Zinc / metabolism, Amyloid beta-Peptides, Amyloid beta-Protein Precursor, Peptide Fragments, amyloid beta-protein (1-40), amyloid beta-protein (1-42), Aspartic Acid, Histidine, Copper, Zinc

Amyloid precursor protein (APP) mutations associated with familial Alzheimer's disease (AD) usually lead to increases in amyloid β-protein (Aβ) levels or aggregation. Here, we identified a novel APP mutation, located within the Aβ sequence (Aβ(D7H)), in a Taiwanese family with early onset AD and explored the pathogenicity of this mutation. Cellular and biochemical analysis reveal that this mutation increased Aβ production, Aβ42/40 ratio and prolonged Aβ42 oligomer state with higher neurotoxicity. Because the D7H mutant Aβ has an additional metal ion-coordinating residue, histidine, we speculate that this mutation may promote susceptibility of Aβ to ion. When co-incubated with Zn(2+) or Cu(2+), Aβ(D7H) aggregated into low molecular weight oligomers. Together, the D7H mutation could contribute to AD pathology through a "double punch" effect on elevating both Aβ production and oligomerization. Although the pathogenic nature of this mutation needs further confirmation, our findings suggest that the Aβ N-terminal region potentially modulates APP processing and Aβ aggregation, and further provides a genetic indication of the importance of Zn(2+) and Cu(2+) in the etiology of AD.
A case of placental trisomy 18 mosaicism causing a false negative NIPT result
Authors: Jiexia Yang, Yiming Qi, Fangfang Guo, Yaping Hou, Haishan Peng, Dongmei Wang, Haoxin Oy, Aihua Yin
Journal: Mol Cytogenet (2017)
Keywords: cell-free dna (cfdna), false negative, placental mosaicism, the non-invasive prenatal testing (nipt)
MeSH terms: Case Reports

Background:
The non-invasive prenatal testing that evaluates circulating cell free DNA, and has been established as an additional pregnancy test for detecting the common fetal trisomies 21, 18 and 13 is rapidly revolutionizing prenatal screening as a result of its increased sensitivity and specificity. However, false positive and false negative results still exist.
Case presentation:
We presented a case in which the non-invasive prenatal testing results were normal at 15 gestational age (GA), but an ultrasound examination at 30GA showed that the fetus had heart abnormalities, and the third trimester ultrasound at 33GA noted multiple anomalies including a 3.0 mm ventricular septal defect. Along with cordocentesis at 33GA, the cord blood sample cytogenetics analysis showed a mos 47,XN,+18[61]/46,XN[39] T18 karyotype. Six placental biopsies confirmed that the chromosome 18 placenta chimerism ratio had changed from 33% to 72%. Ultimately, the pregnancy was interrupted at 34GA.
Conclusions:
We presented this case to highlight the need to clearly explain false positive or false negative results to patients. We believe that this information will also influence the development of future diagnostic test methodologies.
Bullous Lupus: An Atypical Case of Refractory Disease in a Patient with Sulfa Allergy
Authors: Maria Salgado Guerrero, Oscar Mena Miranda, Ana B Arevalo, Nevena Barjaktarovic, Barbara Mendez
Journal: Case Rep Rheumatol (2020)
MeSH terms: Case Reports

Bullous systemic lupus erythematosus (BSLE) is a rare cutaneous autoimmune disorder characterized by rapid, widespread vesiculobullous lesions in patients with Systemic Lupus Erythematosus (SLE). BSLE can present as the initial manifestation of SLE and may be a marker of severe disease. In this case report, we present a case of a 22-year-old African American woman with BSLE and impaired renal function with subsequent nephrotic range proteinuria concerning for lupus nephritis and autoimmune hemolytic anemia, refractory to systemic corticosteroids, immunoglobulin, and mycophenolate mofetil, requiring dapsone after careful desensitization due to prior history of angioedema with sulfa drugs. This case highlights the importance of the prompt recognition of BSLE as the initial manifestations of SLE and illustrates the association of BSLE with severe disease and the benefit of concomitant use of dapsone with corticosteroids and other immunosuppressant drugs, even in patients with a history of sulfa allergy.
Continuous selective intra-arterial application of nimodipine in refractory cerebral vasospasm due to aneurysmal subarachnoid hemorrhage
Authors: Stephanie Ott, Sheila Jedlicka, Stefan Wolf, Mozes Peter, Christine Pudenz, Patrick Merker, Ludwig Schürer, Christianto Benjamin Lumenta
Journal: Biomed Res Int (2014)
MeSH terms: Cerebrovascular Circulation / drug effects, Nimodipine / therapeutic use, Vasodilator Agents / therapeutic use, Vasospasm, Intracranial / drug therapy, Adult, Aged, Female, Glasgow Outcome Scale, Humans, Infusions, Intra-Arterial, Male, Middle Aged, Nimodipine / administration & dosage, Retrospective Studies, Subarachnoid Hemorrhage / complications, Subarachnoid Hemorrhage / epidemiology, Subarachnoid Hemorrhage / physiopathology, Treatment Outcome, Vasodilator Agents / administration & dosage, Vasospasm, Intracranial / epidemiology, Vasospasm, Intracranial / etiology, Vasospasm, Intracranial / physiopathology, Vasodilator Agents, Nimodipine

Background:
Cerebral vasospasm is one of the leading courses for disability in aneurysmal subarachnoid hemorrhage. Effective treatment of vasospasm is therefore one of the main priorities for these patients. We report about a case series of continuous intra-arterial infusion of the calcium channel antagonist nimodipine for 1-5 days on the intensive care unit.
Methods:
In thirty patients with aneurysmal subarachnoid hemorrhage and refractory vasospasm continuous infusion of nimodipine was started on the neurosurgical intensive care unit. The effect of nimodipine on brain perfusion, cerebral blood flow, brain tissue oxygenation, and blood flow velocity in cerebral arteries was monitored.
Results:
Based on Hunt & Hess grades on admission, 83% survived in a good clinical condition and 23% recovered without an apparent neurological deficit. Persistent ischemic areas were seen in 100% of patients with GOS 1-3 and in 69% of GOS 4-5 patients. Regional cerebral blood flow and computed tomography perfusion scanning showed adequate correlation with nimodipine application and angiographic vasospasm. Transcranial Doppler turned out to be unreliable with interexaminer variance and failure of detecting vasospasm or missing the improvement.
Conclusion:
Local continuous intra-arterial nimodipine treatment for refractory cerebral vasospasm after aSAH can be recommended as a low-risk treatment in addition to established endovascular therapies.
Pulmonary Alveolar Microlithiasis and Rheumatoid Arthritis: A Case Report and Review of the Literature
Authors: Waleed Hafiz, Ahmedhusam Alahmed, Mohammed Alahmadi, Rakan Alotaibi, Abdullah Alsharif, Safwan Alim, Mohammed Mokhtar, Kholoud Al-Maabdi, Omaima Badr
Journal: Case Rep Rheumatol (2021)
MeSH terms: Case Reports

Pulmonary alveolar microlithiasis is a rare autosomal recessive condition that is characterized by the formation of excessive calcium phosphate microliths in the alveoli. Most patients are diagnosed in adulthood due to the slow progression of the disease. Children with this disease are asymptomatic, and changes in the lung parenchyma are usually discovered incidentally. The diagnosis is made by the combination of a positive chest imaging and histological examination. Rheumatoid arthritis (RA) is a chronic systemic autoimmune disease characterized by chronic seropositive symmetrical inflammatory polyarthritis with numerous extra-articular manifestations. It targets the lining of the synovial membranes, frequently affects females more than males, and is treated with the disease-modifying antirheumatic drugs (DMARDs). If left untreated, it leads to increased morbidity, mortality, and socioeconomic burdens. In this case, we report a 19-year-old young man who presented with clinical and radiographic features of PAM associated with RA.
Case report: Mitochondrial trifunctional protein deficiency caused by HADHB gene mutation (c.1175C>T) characterized by higher brain dysfunction followed by neuropathy, presented gadolinium enhancement on brain imaging in an adult patient
Authors: Ruoyi Ishikawa, Masahiro Nakamori, Megumi Takenaka, Shiro Aoki, Yu Yamazaki, Akihiro Hashiguchi, Hiroshi Takashima, Hirofumi Maruyama
Journal: Front Neurol (2023)
Keywords: cns demyelination, mtp deficiency, brain calcification, cerebral gadolinium enhancement, higher brain dysfunction, peripheral neuropathy
MeSH terms: Case Reports

Mitochondrial trifunctional protein (MTP) deficiency is an autosomal recessive disorder caused by impaired metabolism of long-chain fatty acids (LCFAs). Childhood and late-onset MTP deficiency is characterized by myopathy/rhabdomyolysis and peripheral neuropathy; however, the features are unclear. A 44-year-old woman was clinically diagnosed with Charcot-Marie-Tooth disease at 3 years of age due to gait disturbance. Her activity and voluntary speech gradually decreased in her 40s. Cognitive function was evaluated and brain imaging tests were performed. The Mini-Mental State Examination and frontal assessment battery scores were 25/30 and 10/18, respectively, suggesting higher brain dysfunction. Peripheral nerve conduction studies revealed axonal impairments. Brain computed tomography showed significant calcification. Magnetic resonance imaging revealed an increased gadolinium contrast-enhanced signal in the white matter, suggesting demyelination of the central nervous system (CNS) due to LCFAs. The diagnosis of MTP deficiency was confirmed through genetic examination. Administration of L-carnitine and a medium-chain fatty triglyceride diet was initiated, and the progression of higher brain dysfunction was retarded within 1 year. This patient's presentation was suggestive of CNS demyelination. The presence of brain calcification, higher brain dysfunction, or gadolinium enhancement in the white matter in patients with peripheral neuropathy may be suggestive of MTP deficiency.
Spontaneous Bilateral Tubal Ectopic Pregnancy in a Low-Risk Patient: A Case Report with Implications for Preoperative Patient Counseling
Authors: Josephine Eva Gathura, Amro Elfeky, Rodney McLaren Jr, David Herzog, Richard Grazi
Journal: Case Rep Obstet Gynecol (2021)
MeSH terms: Case Reports

Bilateral tubal ectopic pregnancies (BTP) are the rarest form of ectopic pregnancy. They are difficult to diagnose preoperatively, and an evidence-based guideline for management does not exist. In this report, we discuss a 35-year-old patient who presented with suspected right tubal ectopic pregnancy. BTP was diagnosed intraoperatively, and a laparoscopic bilateral salpingectomy was performed without complication. The diagnosis was subsequently confirmed by pathology. This case highlights the importance of patient counseling and comprehensive preoperative planning. Due to the poor presurgical diagnosis of BTP, patient counseling should include the possibility of BTP, appropriate options for management, and potential loss of fertility following treatment. In addition, all cases of suspected ectopic pregnancy necessitate a thorough preoperative investigation of bilateral adnexa and intraoperative inspection of the pelvis.
Polymyositis anti-SRP antibodies and pregnancy about 2 cases
Authors: Cissé Ousmane, Ba El Hadji Makhtar, Ba Fatoumata, Gams Daniel Massi, Daddah Sami Mouhamed Lémine, Diop-Sène Marieme Soda, Sow Adjaratou Dieynaba, Basse Anna, Seck Lala Bouna, Ndiaye Moustapha, Diop Amadou Gallo, Ndiaye Mouhamadou Mansour
Journal: Pan Afr Med J (2016)
Keywords: myopathy, anti-srp antibodies, corticosteroid, post-partum, pregnancy
MeSH terms: Polymyositis / immunology, Pregnancy Complications / immunology, Signal Recognition Particle / immunology, Case Reports, Adult, Antibodies / immunology, Female, Humans, Postpartum Period, Pregnancy, Antibodies, Signal Recognition Particle

Anti-SRP myopathy represents 4 to 6% of all the inflammatory myopathies. It has been described since the 80s and its influence on pregnancy and vice versa has been highlighted recently. We report two cases of anti-SRP myopathy associated with pregnancy. In the first case, the initial manifestations of the disease started in post partum and the second case was an anti-SRP myopathy patient before pregnancy. In both cases we objectified outbreaks during post-partum. Pregnancy seems to promote outbreaks. The inactive myopathy seems to presents no serious maternal-fetal complications as well as the usual dose of corticosteroids. The treatment (corticosteroid) during pregnancy is indicated given the risk of worsening during the post-partum.
Correction of Excessive Tibial Plateau Angle and Limb Shortening in a Juvenile Dog Using a Hinged Circular Fixator Construct and Distraction Osteogenesis
Authors: Daniel D Lewis, Stanley E Kim, Justin Shmalberg, Sandra L MacArthur
Journal: Case Rep Vet Med (2019)
MeSH terms: Case Reports

An 18-week-old Rhodesian Ridgeback puppy that was hit by a car sustained a Salter-Harris type III fracture of the left proximal tibial physis and ipsilateral diaphyseal femoral and tibial fractures. The diaphyseal fractures were successfully stabilized with bone plate fixation. Premature closure of the caudal aspect of the proximal tibial physis, secondary to the proximal physeal fracture, resulted in an excessively high tibial plateau angle (TPA) of 50° with a limb length discrepancy of 13% by 24 weeks of age. The deformity was addressed by performing a proximal tibial osteotomy and subsequent distraction osteogenesis to reduce the TPA while concurrently lengthening the crus. A radial osteotomy was performed in the proximal metaphyseal region and the hinged fixator was applied. Distraction was initiated the day following surgery at a rate of 1 mm per day as measured along the caudal cortex of the tibia with a rhythm of three distractions daily. Distraction was terminated 19 days postoperatively. Sequential distraction of the osteotomy resulted in 17 mm of tibial lengthening and a final TPA of 3°. The fixator was removed 52 days after application. Complications included wire tract inflammation involving the wires securing the proximal segment and a calcaneal fracture which required bone plate stabilization. The left pelvic limb was only 8% shorter than the right pelvic limb and the dog had only a subtle lameness 12 months after surgery. The hinged circular fixator construct allowed for both the reduction of the TPA and limb segment lengthening in this dog.
Neurologic Complications Associated with Sjögren's Disease: Case Reports and Modern Pathogenic Dilemma
Authors: Michele Colaci, Giulia Cassone, Andreina Manfredi, Marco Sebastiani, Dilia Giuggioli, Clodoveo Ferri
Journal: Case Rep Neurol Med (2014)

Objectives. Sjögren's syndrome (SS) may be complicated by some neurological manifestations, generally sensory polyneuropathy. Furthermore, involvement of cranial nerves was described as rare complications of SS. Methods. We reported 2 cases: the first one was a 40-year-old woman who developed neuritis of the left optic nerve as presenting symptom few years before the diagnosis of SS; the second was a 54-year-old woman who presented a paralysis of the right phrenic nerve 7 years after the SS onset. An exhaustive review of the literature on patients with cranial or phrenic nerve involvements was also carried out. Results. To the best of our knowledge, our second case represents the first observation of SS-associated phrenic nerve mononeuritis, while optic neuritis represents the most frequent cranial nerve involvement detectable in this connective tissue disease. Trigeminal neuropathy is also frequently reported, whereas neuritis involving the other cranial nerves is quite rare. Conclusions. Cranial nerve injury is a harmful complication of SS, even if less commonly recorded compared to peripheral neuropathy. Neurological manifestations may precede the clinical onset of SS; therefore, in patients with apparently isolated cranial nerve involvement, a correct diagnosis of the underlying SS is often delayed or overlooked entirely; in these instances, standard clinicoserological assessment is recommendable.
Liver Bleeding Due to HELLP Syndrome Treated With Embolization and Liver Transplantation: A Case Report and Review of the Literature
Authors: Valentina Messina, Daniele Dondossola, Maria Chiara Paleari, Gianluca Fornoni, Daniela Tubiolo, Patrizia Vergani, Roberto Rona, Giorgio Rossi
Journal: Front Surg (2021)
Keywords: hellp syndrome, damage control surgery, liver embolization, liver transplantation, rare disease
MeSH terms: Case Reports

Background: Liver bleeding secondary to haemolysis, elevated liver enzymes, and low platelet count (HELLP) syndrome is uncommon, but a life-threatening peripartum condition that needs a prompt multidisciplinary approach. Case Presentation: In this study, we presented a case of 28-year-old pregnant woman, who was presented to the obstetrics department with signs of preeclampsia and foetal growth restriction. An emergency caesarean section was performed, and the patient developed a HELLP syndrome complicated by spontaneous liver rupture. After radiological and surgical procedures, liver failure became evident and liver transplantation was successfully performed. The patient and her daughter are now alive. Conclusions: Despite the rarity of this disease, liver complications due to HELLP syndrome must be properly diagnosed and treated given the gravity of the possible evolution in young women. After diagnosis, the patients must be treated in specialised centres with gynaecological, liver surgery, and transplant skills.
Stability, Consistency and Performance of Distribution Entropy in Analysing Short Length Heart Rate Variability (HRV) Signal
Authors: Chandan Karmakar, Radhagayathri K Udhayakumar, Peng Li, Svetha Venkatesh, Marimuthu Palaniswami
Journal: Front Physiol (2017)
Keywords: aging, approximate entropy, arrhythmia, distribution entropy, heart rate variability, sample entropy, short-term analysis

Distribution entropy (DistEn) is a recently developed measure of complexity that is used to analyse heart rate variability (HRV) data. Its calculation requires two input parameters-the embedding dimension m, and the number of bins M which replaces the tolerance parameter r that is used by the existing approximation entropy (ApEn) and sample entropy (SampEn) measures. The performance of DistEn can also be affected by the data length N. In our previous studies, we have analyzed stability and performance of DistEn with respect to one parameter (m or M) or combination of two parameters (N and M). However, impact of varying all the three input parameters on DistEn is not yet studied. Since DistEn is predominantly aimed at analysing short length heart rate variability (HRV) signal, it is important to comprehensively study the stability, consistency and performance of the measure using multiple case studies. In this study, we examined the impact of changing input parameters on DistEn for synthetic and physiological signals. We also compared the variations of DistEn and performance in distinguishing physiological (Elderly from Young) and pathological (Healthy from Arrhythmia) conditions with ApEn and SampEn. The results showed that DistEn values are minimally affected by the variations of input parameters compared to ApEn and SampEn. DistEn also showed the most consistent and the best performance in differentiating physiological and pathological conditions with various of input parameters among reported complexity measures. In conclusion, DistEn is found to be the best measure for analysing short length HRV time series.
Pediatric Chondrosarcoma of the Sternum Resected with Thorascopic Assistance
Authors: Harpreet S Bawa, Drew D Moore, Juan C Pelayo, Nicole Cipriani, Grace Mak, Rex C Haydon
Journal: Open Orthop J (2017)
Keywords: chest wall mass, chondrosarcoma, sarcoma, sternal tumor, video-assisted thoracoscopic surgery

Background:
Chondrosarcomas are a heterogeneous group of malignant neoplasms that arise from bones, cartilage or other soft tissues that produce cartilage and are commonly seen in the middle decades of life. Despite being the most common primary bone sarcoma in adults, chondrosacromas are rare in pediatric patients.
Case report:
We report the case of a six-year-old child with a painless enlarging sternal mass of which biopsy was consistent with low-grade surface chondrosarcoma. This is the first reported case of a chest wall chondrosarcoma in a young child. This unusual location in a young patient presented challenges to treatment. Resection of the manubrium was performed by a multidisciplinary team of orthopaedic oncology and pediatric general surgery. The patient underwent a wide resection of the sternal mass from an anterior approach performed by the orthopaedic oncology team using an oscillating saw under video-assisted thoracoscopic surgery to ensure adequate mass resection without injury to nearby structures. The patient was followed with quarterly physical exams and radiographs for 18 months postoperatively and did not have any pain or evidence of recurrence.
Conclusion:
Clinicians should consider utilizing multidisciplinary approaches to treat patients with chondrosarcomas of the chest wall.
Simultaneous thrombosis of multiple coronary arteries in a patient with rheumatoid arthritis
Authors: Arzu Kalayci, Erol Arslan, Salih Murat Bakar, Mahmut Guneri, Rafet Dizman, Eylem Kivanc, Can Yucel Karabay
Journal: J Cardiovasc Thorac Res (2016)
Keywords: coronary thrombosis, methotrexate, rheumatoid arthritis
MeSH terms: Case Reports

We present a case of simultaneous coronary thrombosis of the left main, the left anterior descending artery and the right coronary artery in a patient, recently diagnosed with rheumatoid arthritis.
Late Spinal Implant Infection caused by Cutibacterium acnes
Authors: Valentin Gisler, Lorin Benneker, Parham Sendi
Journal: J Bone Jt Infect (2019)
MeSH terms: Case Reports

Cutibacterium spp. have been frequently associated with foreign-body material infections. The vast majority of these infections occur via the exogenous route. Rarely, haematogenous infections occur, possibly seeding from pilosebaceous glands. A late spinal implant-associated infection is presented in this case report, and the possible sources of haematogenous seeding are discussed.