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Background: Accessible datasets are of fundamental importance to the advancement of Alzheimer’s disease (AD) research. The AddNeuroMed consortium conducted a longitudinal observational cohort study with the aim to discover AD biomarkers. During this study, a broad selection of data modalities was measured including clinical assessments, magnetic resonance imaging, genotyping, transcriptomic profiling, and blood plasma proteomics. Some of the collected data were shared with third-party researchers. However, this data was incomplete, erroneous, and lacking in interoperability. Objective: To provide the research community with an accessible, multimodal, patient-level AD cohort dataset. Methods: We systematically addressed several limitations of the originally shared resources and provided additional unreleased data to enhance the dataset. Results: In this work, we publish and describe ANMerge, a new version of the AddNeuroMed dataset. ANMerge includes multimodal data from 1,702 study participants and is accessible to the research community via a centralized portal. Conclusion: ANMerge is an information rich patient-level data resource that can serve as a discovery and validation cohort for data-driven AD research, such as, for example, machine learning and artificial intelligence approaches.

O Alzheimer se caracteriza como uma demência neurodegenerativa, fatal e incurável, acometendo, principalmente os idosos. Objetivo: Evidenciar o estado da arte acerca da assistência de enfermagem ao portador de Alzheimer. Método: Trata-se de uma revisão integrativa da literatura acerca da Assistência de Enfermagem ao portador de Alzheimer, nos anos de 2016 a 2020, dentro das seguintes bases de dados: SciELO e LILACS, utilizando como estratégia de busca os descritores combinados com operadores booleanos "enfermagem" and "Alzheimer". Resultados: A amostra do estudo foi composta por sete artigos, evidenciando o papel do enfermeiro, junto ao cuidador e com o portador da Doença de Alzheimer, além de mostrar necessárias ações de promoção da saúde e prevenção de agravos. Conclusão: A doença de Alzheimer se configura como um desafio para a sociedade contemporânea, sendo que a Enfermagem tem papel fundamental no cuidado ao portador e ao cuidador.

Kummel disease (KD) or avascular necrosis is characterized by osteonecrosis of the vertebrae which often occurs in the thoracic area with compression fractures, intravertebral vacuum clefts, change in posture to kyphotic within months to years after minor trauma. KD is a rare disease but its incidence continues to increase with age and osteoporosis increases. Fixation of unstable thoracic fractures using the transpedicular pedicle screw (TPS) has been accepted as a procedure performed by experts. However, TPS itself has several complications combination with vertebroplasty and wire can reduce the incidence of the misplaced screw.

The COVID-19 pandemic has emerged as a serious global threat causing a large number of fatalities and putting enormous strain on the health care resources across the world. This has resulted in preferentially triaging the coronavirus infected patients and placing others, especially cardiovascular patients at increased risk for adverse complications. The effective management of cardiac patients in the hospital environment during this COVID-19 pandemic has emerged as a real challenge. We try to address this issue and also highlight the interplay between COVID-19 and cardiovascular diseases. We hereby review the available literature and emerging guidelines about cardiovascular implications related to COVID-19 which will have a bearing on the patient care, health care professionals and cardiac centres.

El enfermero como profesional autónomo tiene ante sí, no solo el compromiso, sino además el reto que supone generar los conocimientos necesarios para establecer protocolos de actuación que coadyuven al perfeccionamiento de su acción cuidadora al ofrecer pautas que la orienten, faciliten la adopción de ideas y la estandarización de cuidados específicos. El presente artículo tiene como objetivo reflexionar sobre la relación existente entre los protocolos de actuación y la calidad de la atención de enfermería del paciente con enfermedad de Parkinson. Para garantizar la calidad de la atención de enfermería del paciente con enfermedad de Parkinson se hace necesario adoptar protocolos que permitan guiar, unificar y sustentar científicamente el accionar del personal de enfermería con influencia directa en la calidad de la atención.

Serotonin syndrome is due to excess serotonin in the nervous system. We document a case of an elderly Parkinson disease patient who has been neurologically stable on rasagiline and escitalopram for 1 year but developed serotonin syndrome after intake of an ethanol-containing homeopathic medication. The patient presented with seizures, autonomic dysfunction and neuromuscular hyperexcitability. Maintenance medications were discontinued, hydration, sedation and respiratory support were provided with resolution of the symptoms. The combination of escitalopram and ethanol, both metabolized by the cytochrome P450 enzyme system can lead to serotonin syndrome. Our case highlights the importance of drug interactions in patients taking several medications. Additionally, the intake of medicines, may it be conventional or homeopathic medicine, without the guidance of a trained and competent physician, may lead to serious consequences for the patient.

Ending the HIV epidemic will require dedicated efforts to engage the highest need persons living with HIV (PLWH) in treatment. We assessed patient perceptions of a clinic in Seattle, Washington, that is designed for PLWH who do not engage in conventional HIV care. The Max Clinic provides walk-in access to care, incentives for blood draws and achieving viral suppression, and intensive case management. We conducted semistructured individual interviews with 25 patients purposively recruited to obtain diverse viewpoints. Interviews were audio-recorded and transcribed. Analysis used a constant comparative approach to identify major themes related to the components of the program. For many participants, engagement in the Max Clinic was the first time they had success with HIV treatment. Relationships with clinic staff and the ability to receive care on a walk-in basis had the strongest influences on engagement. Participants felt that Max Clinic staff attended to their social circumstances in ways that were distinct from prior care experiences. Walk-in visits removed perceived stigma associated with failure to keep appointments and provided immediate attention to acute concerns. Financial incentives initially motivated participants to attend clinic and take medications, but were less important for supporting ongoing engagement in care. Food incentives motivated patients to seek care and helped them focus on health issues. In summary, patients identified walk-in access to care, monetary and food incentives, and relationships with clinic staff, particularly case managers, as the key elements of an HIV clinic model for high-need PLWH.

This project uses knowledge of neural network to analyze if the person under study is analyzed to be Parkinson disease patient or not. Binary classification is constructed based on the multi-feature database. A decision boundary is clearly plotted to separate patient with and without Parkinson disease. Results show that over 80% accuracy could be obtained with the preliminary results. Future efforts could be performed to construct more complicated neural network to improve the accuracy.

Hematopoietic stem cell transplant (HSCT) is the only cure for patients with sickle cell disease (SCD). Although most SCD patients experience progressive end-organ damage and shortened lifespans, not all patients follow the same disease course, tempo, or outcome. Therefore, the dilemma facing physicians is weighing the selection of patients and timing for the procedure against donor type and transplant-related mortality and morbidity that go up with increasing age. On the other hand, the dilemma facing the patients and families is how acceptable HSCT that carries some mortality risks to them. We have analyzed the chronic conditions due to SCD in 449 patients to determine whether SCD-related multiple chronic conditions (MCC) can be risk-stratified to identify the group of patients predicted to not only have shortened lifespans but also functional limitation and poor quality of life so that these at-risk patients can be offered HSCT early and before MCC develops. We identified that the age of onset of the first SCD-related chronic conditions strongly predicted for the risks for disease-related MCC. SCD patients who suffered their first disease-related chronic condition before age 30 years developed MCC at a rate of 19.1 times faster than those at a later age. These patients are therefore high-risk patients and should be offered HSCT early in the course of their disease before multiple organ damage intervenes, even if matched-related donors are not available. This patient selection and timing approach provides a forum for an easy-to-understand and real-time discussion, including the choice of donor type, with SCD patients and families when considering HSCT.

Haemoglobinopathies (thalassaemia and haemoglobin (Hb) variants) are the most common of all inherited monogenic disorders. More than 1800 mutations in alpha or beta globin genes are known to be responsible for haemoglobinopathies.1 The clinical spectrum of haemoglobinopathies is quite heterogeneous and depends on the underlying mutations. Here, we report, a de novo emergence of rare alpha chain variant Hb G-Waimanalo in a sickle cell disease patient. An 8-year-old Gond tribal girl born from a non-consanguineous marriage was referred to Division of Genetic Disorders at Indian Council of Medical Research-National Institute of Research in Tribal Health (ICMR-NIRTH) for differential diagnosis for haemolytic anaemia. She had a history of severe anaemia (Hb 47 g/L) and frequent bone and joint pain. She also had a history of multiple blood transfusions since the age of 3 years. Her weight was below 3 SD (17 kg). She exhibited pallor, icterus and typical thalassemic facial features with hepatosplenomegaly (spleen 9 cm and liver 5 cm below respective costal margins). Serum bilirubin count was 87.72 µmol/L (direct bilirubin=6.6 µmol/L and indirect bilirubin=81.57 µmol/L). Serum aspartate aminotransferase was 47.3 mg/dL, alanine aminotransferase was 19.6 mg/dL. Serum lactate dehydrogenase levels were also elevated (540 IU/L) suggesting haemolytic anaemia. Direct Coombs test was negative and glucose six phosphate dehydrogenase levels were within normal limits. Cellulose acetate Hb electrophoresis at alkaline pH (8.4) showed the presence of three Hb variants (figure 1A). One faint band was seen just below the HbA band, and other two bands were seen at position corresponding …

Sickle cell disease (SCD) is one of the most commonly inherited conditions on the Arabian Peninsula. We report a case of a 17-year-old boy, who had previously been diagnosed with SCD and glucose-6-phosphate dehydrogenase (G6PD) deficiency and recently presented to our hospital with spontaneous subgaleal hematoma (SGH), which was managed conservatively. We also present a literature review on the topic of spontaneous intra- and/or extra-cranial bleeds. J Med Cases. 2020;11(2):46-48 doi: https://doi.org/10.14740/jmc3433

Sickle cell disease is a genetic disease linked to the presence of hemoglobin S in the blood and is a major public health problem in Africa. The drugs available are expensive in view of the purchasing power of the majority of the population. The aim of this study was to assess the clinical efficacy of an improved traditional medicine called Drepanoalpha (an anti-sickle cell polyherbal formula) in a homozygous sickle patient using the quantum magnetic resonance analyzer. The results show the relevance of the use of this unconventional technical approach in the sickle cell disease patient treatment evaluation. Indeed, this study showed that Drepanoalpha is effective in vivo and restored homeostatic balance by optimizing some vital functions in the treated patient. The quantum magnetic resonance analyzer is therefore an important away which allows understanding the disorders of the body due to sickle cell disease and their correction post-treatment. It is desirable that the use of this device be validated in the evaluation of the effectiveness of anti-sickling drugs in large-scale clinical trials in rural areas like Nord-Ubangi province. Indeed, this instrument is not only fast, practical, economical, accessible, non-invasive but also easy to use and suitable for this category of research in underprivileged areas. The results obtained are in perfect agreement with the facts observed (recovery of some vital parameters and disappearance of seizures in the patient).

We report here a case of bone marrow necrosis and fat embolism syndrome in a 23-year-old sickle-cell disease (HbSS) patient. A brutal and severe bicytopenia conducted to suspect bone marrow necrosis, confirmed by bone marrow aspiration and analysis. This was the first life-threatening medical event for this patient. In the present case, a complex alloimmunization against blood group antigens complicated the treatment because of the risks associated with the transfusion strategy. These rare complications of sickle-cell disease may be fatal, but an efficient symptomatic treatment generally allows for recovery. Medical biologists should be aware of the danger of bone marrow necrosis in sickle-cell disease, so that they can help clinicians and accurately diagnose this serious complication.

We report the accumulation of 99mTc-TRODAT-1 in the region of subacute cerebral ischemic infarction in an 81-year-old woman with Parkinson disease. The dopamine transporter SPECT imaging was performed on the 15th day after the onset of acute cerebral ischemic clinical symptoms. Overexpression of dopamine transporters after infarction in subacute phase may explain the accumulation.

The dosing of anti-Parkinson drugs is considered as the optimal control of the symptoms of PD, and increasing the dose of drugs is a common method to treat the aggravate state of PD. However, this is a case of PD elderly patient who had nephritic syndrome, with an increase in the dose, the symptoms did not get improved，but a series of other adverse effects appeared.

Background We sought to determine whether mitochondrial DNA (mtDNA) content can be used as markers for 12 key phenotypes among cardiovascular disease patients, and whether these markers are valid across patients with diverse ancestries. Methods and Results DNA was collected from the peripheral blood of 996 cardiovascular disease patients at the Cleveland Clinic. The mtDNA copy number and DNA‐level variation were assessed from whole‐genome sequence. Patients were also ascertained retrospectively for histories of 10 clinical events, as well as for maximum stenosis and extent of disease at baseline. Self‐reported race and maternal ancestry inferred from mtDNA sequence were recorded. MtDNA copy number and overall mtDNA rare variant load were significantly lower in patients with histories of various adverse clinical events, and mtDNA copy number was inversely correlated with extent of disease. Strong associations were also found between absence of rare variants in the genes MT ‐ATP6 and MT‐COII and patient histories of hyperlipidemia and myocardial infarction, respectively. Importantly, associations were not ancestry dependent. Conclusions This study provides evidence that mtDNA copy number in circulation is associated with a variety of cardiovascular disease patient phenotypes. Results also suggest a protective role for some rare inherited mtDNA variants. Overall, the study supports the potential of mtDNA content and abundance as biomarkers in heart disease, in a manner that is valid across diverse ancestries.

Subthalamic nucleus (STN) deep brain stimulation (DBS) is an established therapy for Parkinson’s disease motor symptoms. The ideal site for implantation within STN, however, remains controversial. While many argue that placement of a DBS lead within the sensorimotor territory of the STN yields better motor outcomes, others report similar effects with leads placed in the associative or motor territory of the STN, while still others assert that placing a DBS lead “anywhere within a 6-mm-diameter cylinder centered at the presumed middle of the STN (based on stereotactic atlas coordinates) produces similar clinical efficacy.” These discrepancies likely result from methodological differences including targeting preferences, imaging acquisition and the use of brain atlases that do not account for patient-specific anatomic variability. We present a first-in-kind within-patient demonstration of severe mood side effects and minimal motor improvement in a Parkinson’s disease patient following placement of a DBS lead in the limbic/associative territory of the STN who experienced marked improvement in motor benefit and resolution of mood side effects following repositioning the lead within the STN sensorimotor territory. 7 Tesla (7 T) magnetic resonance imaging (MRI) data were used to generate a patient-specific anatomical model of the STN with parcellation into distinct functional territories and computational modeling to assess the relative degree of activation of motor, associative and limbic territories.

As the clinical course of COVID-19 infection in SCD patients is not clear, close monitoring is essential. We emphasize that RBC exchange should be offered early to avoid possible deterioration. We present a case of COVID-19 infection in a SCD patient causing severe hemolysis, that improved after RBC exchange.

Introduction: Cardiovascular disease (CVD) is a common term used to refer to disorders affecting the blood vessels or the heart that have led to the majority of deaths worldwide. Aim: The aim of the present study was to explore nurse's perception of their role and their experiences in relation to engaging with cardiovascular disease prevention in the primary care setting. Methods: In the selection of clinical nurses who were interested in primary care to participate, qualitative describing design and impracticable sampling were used. The data collection methods include semi-structured and one-on-one interviews. The results were analyzed by the methodology for qualitative content analysis. Results: In this study, 10 nurses were participated and their role in CVD prevention plays a part in health education, diagnosis and consultation, reassurance, monitoring of vital signs, and collecting blood samples. The challenges include cultural obstacles and vocabulary, negative attitudes, contradictory regulations, a lack of equipment, a shortage of nursing staff and the lack of knowledge and information. Electronic information, patient education, nurse training, and communication workshops are the facilitators for nurses that prevent heart disease. Conclusion: Cardiovascular disease is lethal, but adequate preventive programs can accommodate it. In addition, nurses play an important role in preventing CVD in primary healthcare and should therefore concentrate efforts on the enhancement of their capacity. The aim of future research should be to understand how patients interpret and incorporate data on the prevention of CVD provided by nurses.

Alloimmunization has been reported in patients with sickle cell disease (SCD). Delayed hemolytic transfusion reaction (DHTR) is one of the complications of alloimmunization. DHTR is of particular clinical significance in this patient population as it may pose a diagnostic and management challenge to most healthcare providers. Symptoms of DHTR are often misinterpreted as pain crisis or worsening of baseline anemia. Furthermore, DHTR may take a turn for the worse in patients with SCD, thereby leading to worsening anemia and hyper-hemolytic crisis. In this report, we discuss the case of a 33-year-old African female, with hemoglobin SS (Hb SS) SCD and a history of multiple blood transfusions in her home country of Nigeria, who presented to the emergency department with generalized body pain, which was typical of her prior vaso-occlusive crisis (VOC). The trigger of her crisis was an acute onset of sepsis secondary to Escherichia coli (E. coli)-associated pyelonephritis. Owing to a worsening of her VOC and a significant drop in her steady-state Hb levels, she required a blood transfusion of one unit of packed red blood cells (PRBC), which was later complicated by a delayed hemolytic reaction and worsening anemia.

BackgroundAccessible datasets are of fundamental importance to the advancement of Alzheimer’s disease (AD) research. The AddNeuroMed consortium conducted a longitudinal observational cohort study with the aim to discover AD biomarkers. During this study, a broad selection of data modalities was measured including clinical assessments, magnetic resonance imaging, genotyping, transcriptomic profiling and blood plasma proteomics. Some of the collected data were shared with third-party researchers. However, this data was incomplete, erroneous and lacking in interoperability.MethodsWe systematically addressed several limitations of the originally shared data and provide additional unreleased data to enhance the patient-level dataset.ResultsIn this work, we publish and describe ANMerge, a new version of the AddNeuroMed dataset. ANMerge includes multimodal data from 1702 study participants and is accessible to the research community via a centralized portal.ConclusionsANMerge is an information rich patient-level data resource that can serve as a discovery and validation cohort for data-driven AD research, such as for example machine learning and artificial intelligence approaches.ANMerge can be downloaded here: https://doi.org/10.7303/syn22252881

Type1 autoimmune pancreatitis (AIP) is the first recognized and the most common manifestation of IgG4-related disease. However, AIP patient presented with neuropathy in the extremities have not been reported previously. We reported a rare combination of autoimmune pancreatitis and peripheral neuropathy on an IgG4-related disease patient based on histological features to expand the clinical spectrum of IgG4-related disease.

Background Perforated peptic ulcer disease is a surgical emergency with a high morbidity and mortality. The socio-demographic characteristic and the factors associated with morbidity and mortality seems to differ between the developed and developing world. This is the first a prospective cohort study in Ethiopia designed to analyze pattern and outcome of patients with perforated peptic ulcer disease in four teaching hospitals affiliated with SOM, CHS of Addis Ababa University. Method This is a prospective cohort study of patients operated for perforated peptic ulcer disease from June 1, 2018 to May 31, 2019 in four teaching hospital affiliated to department of surgery of SOM, CHS of Addis Ababa university. Result A total of 97 patients were operated in a year. 86.6% were males with a male to female ratio of 6.5:1. The age group 21–30 were most affected constituting 42.3% of all patients. Mean age is 31.9, Median of 27, age ranges from 16 to 76. Alcohol use (45.4%) and previous history of ulcer disease (75.3%) were the most prevalent risk factors.33% were smokers. Abdominal was present in all and most presented within 48 h (79.4%). 85.6% had pneumo = peritoneum in an x-ray at presentation. Size of the perforation is 10 mm or less in 81.3%. 91(93.8%) had anterior first part duodenum perforation. Repair with pedicled omental patch was done in 65 (67.1%) patients. Age, duration of presentation, hypotension at presentation, size of perforation, degree of peritoneal contamination were found to be the significant factors for morbidity and mortality. Major morbidities were observed in 16 (16.5%) and mortality occurred in 3 (3.1%) patients. Conclusion Perforation of peptic ulcer disease here occurs in the young. Age, duration of presentation, hypotension at presentation, size of perforation, degree of peritoneal contamination were found to be the significant factors for morbidity and mortality. Morbidity and mortality rate of 16.5 and 3.1% observed here are quite acceptable.

Induced pluripotent stem cell (iPSC) line HUi001-A was reprogrammed from skin fibroblasts via non-integrating, virus free self-replicating RNA. Skin fibroblasts from an 81-year-old female Caucasian familial Alzheimer’s disease patient of Volga German family carrying N141I mutation in the PSEN2 gene (familial AD4, clinical summary confirmed Alzheimer’s disease) was obtained from the Coriell Institute (AG09908). Generated iPSCs were characterized and pluripotency was confirmed.

In the early 1980s, a group of seven patients with puzzling symptoms appeared in northern California,. All were relatively young (ranging from age 26 to 42) and all had very quickly developed a severe inability to move most, if not all, of their body. Apart from that, they had very little in common. Some were initially thought to have a psychiatric disorder, such as catatonic schizophrenia, which also affects the ability to move. However, upon examination, their limbs had the type of rigidity that is characteristic of Parkinson’s disease, and not present in schizophrenia. What did not fit well within the diagnosis of Parkinson’s was the young age of these patients and the fact that the rigidity had come upon them very quickly. A typical Parkinson’s disease patient is older and has gradual onset of symptoms.

The first biosimilar of bevacizumab was approved by the US FDA; other potential biosimilars of bevacizumab are in late-stage clinical development. Their availability offers opportunity for increased patient access across a number of oncologic indications. The regulatory pathway for biosimilar approval relies on the totality of evidence that includes a comprehensive analytical assessment, and a clinical comparability study in a relevant disease patient population. Extrapolation of indications for a biosimilar to other eligible indications held by the originator, in the absence of direct clinical comparison, frequently forms part of the regulatory judgment. Herein, we consider the evidence required to demonstrate biosimilarity for bevacizumab biosimilars, with particular focus on the rationale for extrapolation across oncologic indications.

Chagas disease (CD) affects > 6 million people globally, including > 300,000 in the United States. Although early detection and etiological treatment prevents chronic complications from CD, < 1% of U.S. cases have been diagnosed and treated. This study explores access to etiological treatment from the perspective of patients with CD. In semi-structured interviews with 50 Latin American–born patients of the Center of Excellence for Chagas Disease at the Olive View–UCLA Medical Center, we collected demographic information and asked patients about their experiences managing the disease and accessing treatment. Patients were highly marginalized, with 63.4% living below the U.S. poverty line, 60% lacking a high school education, and only 12% with private insurance coverage. The main barriers to accessing health care for CD were lack of providers, precarious insurance coverage, low provider awareness, transportation difficulties, and limited time off. Increasing access to diagnosis and treatment will not only require a dramatic increase in provider and public education, but also development of programs which are financially, linguistically, politically, and geographically accessible to patients.

Introduction. Mitral valve calcifications are frequent finding in Barlow disease. This is making mitral repair surgery even more demanding in already complex valve pathology. Case report. A fifty-five-year-old Barlow disease patient underwent a mitral repair surgery due to posterior leaflet prolapse at P2 level and extensive posterior leaflet and annular calcifications as well. The prolapsed scallop was resected, while P1 and P3 scallops were detached from the annulus. After complete posterior annulus decalcification, so formed the large atrio-ventricular defect was reconstructed with the autologous pericardial patch and double suture line technique. The P1 and P3 segments were reattached there by the sliding technique and sutured with no strain. Annuloplasty was performed with a saddle rigid ring No 36. The patient was discharged nine days after the surgery with just a trace of mitral regurgitation. Conclusion. Annular decalcification and reconstruction in the patients with calcified Barlow mitral disease is necessary for safe and durable mitral valve surgical repair. Uvod. Kalcifikacije mitralne valvule su čest nalaz kod bolesnika sa Barlovljevom bolesti što čini rekonstruktivnu hirurgiju zalistka kod ovih bolesnika znatno složenijom. Prikaz bolesnika. Bolesniku starom 55 godina je urađena rekonstrukcija mitralnog zalistka zbog prolapsa posteriornog listića i značajnih kalcifikacija na P2 segmentu i posteriornom anulusu. Nakon resekcije P2 segmenta i odvajanja P1 i P3 segmenta od anulusa, urađena je kompletna resekcija velikog kalcifikata sa skoro polovine obima posteriornog anulusa. Nastali atrioventrikularnog defekt rekonstruisan je autolognim perikardom elipsoidnog oblika sašivenim u dva sloja. P1 i P3 segment su potom reinplantirani na rekonstruisani anulus i međusobno spojeni. Rekonstruktivna procedura je kompletirana anuloplastikom pomoću sedlastog rigidnog prstena veličine 36. Bolesnik je otpušten devetog postoperativnog dana sa neznatnom mitralnom regurgitacijom. Zaključak. Dekalcifikacija posteriornog anulusa uz preciznu rekonstrukciju nastalog atrioventikularnog defekta je neophodna procedura za bezbednu i funkcionalno trajnu rekonstrukciju mitralnog zalistka.

Pompe disease is a rare neuromuscular disorder characterized by orofacial muscle weakness with consequent dysphagia and poor weight gain. We report the first case of severe trismus due to abnormal elongation of the coronoid process of the mandible in a child with infantile-onset Pompe disease. Bilaterally elongated mandibular coronoid processes cause abnormal impingement between the coronoid process and the zygomatic process, which in this patient, resulted in a maximal interincisal opening of only 6 mm. Although rare, clinicians should be aware of the development of coronoid process elongation in neuromuscular disorders with hypotonia, specifically those involving hypotonic orofacial muscles.

In the embryonic heart, electrical impulses propagate in a unidirectional manner from the sinus venosus and appear to be involved in cardiogenesis. In this work, aligned and random polyaniline/polyetersulfone (PANI/PES) nanofibrous scaffolds doped by Camphor-10-sulfonic acid (β) (CPSA) were fabricated via electrospinning and used to conduct electrical impulses in a unidirectional and multidirectional fashion, respectively. A bioreactor was subsequently engineered to apply electrical impulses to cells cultured on PANI/PES scaffolds. We established cardiovascular disease-specific induced pluripotent stem cells (CVD-iPSCs) from the fibroblasts of patients undergoing cardiothoracic surgeries. The CVD-iPSCs were seeded onto the scaffolds, cultured in cardiomyocyte-inducing factors, and exposed to electrical impulses for 1 h/day, over a 15-day time period in the bioreactor. The application of the unidirectional electrical stimulation to the cells significantly increased the number of cardiac Troponin T (cTnT+) cells in comparison to multidirectional electrical stimulation using random fibrous scaffolds. This was confirmed by real-time polymerase chain reaction for cardiac-related transcription factors (NKX2.5, GATA4, and NPPA) and a cardiac-specific structural gene (TNNT2). Here we report for the first time that applying electrical pulses in a unidirectional manner mimicking the unidirectional wave of electrical stimulation in the heart, could increase the derivation of cardiomyocytes from CVD-iPSCs.

Objective. The primary objective was to evaluate predictors of quality of life (QOL) and functional outcomes following deep brain stimulation (DBS) in Parkinson’s disease (PD) patients. The secondary objective was to identify predictors of global improvement. Methods. PD patients who underwent DBS at our Center from 2006 to 2011 were evaluated by chart review and email/phone survey. Postoperative UPDRS II and EQ-5D were analyzed using simple linear regression adjusting for preoperative score. For global outcomes, we utilized the Patient Global Impression of Change Scale (PGIS) and the Clinician Global Impression of Change Scale (CGIS). Results. There were 130 patients in the dataset. Preoperative and postoperative UPDRS II and EQ-5D were available for 45 patients, PGIS for 67 patients, and CGIS for 116 patients. Patients with falls/postural instability had 6-month functional scores and 1-year QOL scores that were significantly worse than patients without falls/postural instability. For every 1-point increase in preoperative UPDRS III and for every 1-unit increase in body mass index (BMI), the 6-month functional scores significantly worsened. Patients with tremors, without dyskinesia, and without gait-freezing were more likely to have “much” or “very much” improved CGIS. Conclusions. Presence of postural instability, high BMI, and worse baseline motor scores were the greatest predictors of poorer functional and QOL outcomes after DBS.

Introduction/Objective Voxelotor is a molecule that allosterically binds to the alpha-chain of hemoglobin, resulting in increased oxygen affinity. This allosteric inhibition leads to prevention of hemoglobin polymerization and sickling of red blood cells in response to low oxygen tension. Voxelotor has been used to treat patients with Sickle Cell Disease (SCD) and recent literature indicates it may contribute to complex hemoglobin fractionation (HF) elution patterns. We report a novel case of a SCD patient on concurrent Hydroxyurea, Voxelotor and chronic RBC exchange transfusion treatment and discuss the implications of these three treatment modalities on HF and monitoring of SCD. Methods A 17-year-old female with SCD complicated by frequent vaso-occlusive crisis, and avascular necrosis managed with chronic RBC exchange and Hydroxyurea. Her HF prior to initiation of Voxelotor treatment showed 3.2% HbA2, 51% HbA, 6.0% HbF, and 41% HbS. Voxelotor therapy was initiated at 1500mg/day and HF was performed 10 days later. Whole blood was collected and subjected to High Performance Liquid Chromatography (HPLC) with reflex to RBC solubility and Capillary Electrophoresis. Results HF performed post-Voxelotor therapy revealed positive sickle solubility with a complex pattern of 2.7% HbA2, 49.2% HbA, 5.3% HbF, 15.7% HbS, 0% HbC, and two additional peaks of a 6.3% peak in the window-D region (retention time of 4.34) and 20.8% of an atypical Hb peak pattern (at the retentuin time of 4.18). The results reflected a complex HF of a HbSS patient on concurrent chronic RBC exchange transfusion, hydroxyurea therapy, and Voxelotor treatment. Post Voxelotor-therapy HF revealed a reduction in HbS from 41% to 15.7% with the emergence of two additional peaks. Chronic RBC exchange transfusion and Hydroxyurea treatment account for the observed fractionation of HbA and HbF, respectively. Based on recent literature, we attribute the emergence of the two additional peaks to Voxelotor therapy. All three therapies led to reduction in HbS. Conclusion Routine HF serves as an essential modality in diagnosis and monitoring of SCD. Voxelotor treatment alters the HF profile and may cause difficulty for interpretation. With the emergence of novel therapies, it is imperative for clinicians to provide medication information to clinical laboratories and pathologists to be fully aware of the effects of current treatments to correctly interpret and monitor SCD.

The foundations of biomedical ethics were established in the 2nd half of the 20th century, but issues associated with medical practice continue to evolve from new technologies. Recent progress in genomics and genome engineering has changed the meaning of the basic words of medicine: disease, patient and treatment. Frederick Grinnell argues that the era of molecular medicine has provoked new understanding of basic medical terms, necessitating an ‘upgrade’ to modern biomedical ethics.

Direct conversion of adult Huntington’s disease patient fibroblasts into medium spiny neurons recapitulates hallmark phenotypes such as cell death, in contrast to models that lack epigenetic markers of aging. This successful ‘disease-in-a-dish’ highlights the benefits of capturing age in an adult-onset disorder model.