1 Episode results for "Kate Stanley"
NEJM This Week September 17, 2020
"Welcome this is the New England Journal of Medicine I'm Dr Michael Beer. This week September Seventeenth two, thousand twenty, we feature articles on X. Own sequencing analysis in stillbirth a two year trial of Bolivia Mab in Lupus nephritis nocturnal oxygen in COPD. Ashvin targeted therapy in melanoma and Darah toomey Mab in refractory Lupus a review article on immune tolerance a case report of a man with fever and shortness of breath after liver transplantation and perspective articles on consent to trainee involvement in Pediatric Care on examining examinations conducted under anesthesia on June medical services versus Russo and on sticks and stones. Causal genetic variants in Stillbirth by Kate. Stanley. From Columbia University. Irving Medical Center New York. In the majority of cases, the cause of still birth remains unknown despite detailed, clinical and laboratory evaluation. Approximately ten to twenty percent of still births are attributed to chromosomal abnormalities. However, the causal nature of single nucleotides, variance and small insertions and deletions in Exxon's has been under studied. This study evaluated the diagnostic utility of Clinical Xm sequencing in a cohort of two, hundred, forty six. Birth cases in a multicentre case control study involving a geographically and demographically diverse population in the United States. Molecular diagnoses were identified in six point one percent of cases of stillbirth involving seventeens that have been implicated in stillbirth and in six disease genes that are good candidates for pheno typic- expansion of the cases evaluated. The investigators also found an enrichment of loss of function variants in genes that are intolerant to such variation in the human population odds ratio two point one, five loss of function variants in intolerant jeans were concentrated genes that have. Not been associated with human disease odds ratio two point, two two findings that differ from those in to postnatal clinical populations that were also evaluated in this study. These findings established the diagnostic utility of Clinical Xm sequencing to evaluate the role of small genome changes in stillbirth the strength of the novel Risk Signal, as generated through the stratified analysis was similar to that in known disease genes, which indicates that the genetic causes stillbirth remains largely unknown. In an editorial Monica. WHOA check from Boston. Children's hospital rights that still birth or fetal loss after twenty weeks of station remains a major public health challenge that occurs in approximately six per one thousand pregnancies in the United States unfortunately. Many of these losses remain unexplained even after standard postmortem evaluation in addition to revealing the potential diagnostic value of. Xm. Or genome sequencing Stanley and colleagues offer valuable insight into the genomic landscape of stillbirth by suggesting that the depletion of loss of function variants in certain genes in adult populations may be due to a critical role for these genes in human. Development. In the presence of such variants, fetuses are able to survive. These findings suggest not only that many genetic conditions remain to be discovered but that the full pheno typic- spectrum of many known men deleon disorders is not fully understood without the inclusion of cases resulting in death in utero continued evaluation of such cohorts that focuses on so-called lethal pheno types is needed in order to understand the genomics of human disease thus rather than defining the value of genomic sequencing for stillbirth Stanley and colleagues offer a rare glimpse into its powerful potential for understanding life and it's genetic limitations at different developmental stages. Two Year randomized controlled trial. Of Bolivia. MAB In Lucas Nephritis by Richard Fury from north well health. Great Neck New York. Bellingham AB is a recombinant human I g one lambda monoclonal antibody that inhibits B cell activating factor in this phase three randomized trial four, hundred, forty, eight adults with biopsy proven active Lupus nephritis were assigned to receive intravenous Belinda mob or matching placebo in addition to standard therapy with Michael Fennelly Mofele or cyclophosphamide as thia pre. The primary endpoint at week one oh four was a primary efficacy renal response and the major secondary end point was a complete renal response at week one four significantly more patients in the Bolivia map group than in the Placebo Group had a primary efficacy renal response, forty, three percent versus thirty, two percent and a complete renal response, thirty percent versus twenty percent the risk of. Renal. Related event or death was lower among patients who received Bolivia Mab then among those who received placebo. Hazard Ratio Zero Point Five one, the safety profile of Bolivia Mab was consistent with that in previous trials in this trial involving patients with active Lupus nephritis more patients who received bulemia plus standard therapy had a primary efficacy real response than those who received standard therapy alone. Michael Ward from the National Institutes of Health Bethesda, Maryland rice in an editorial that the trial was larger and longer than previous trials involving patients with Lupus nephritis. If these results are expressed as relative risks, patients who received Bolivia Mab were one point three times more likely to have a primary efficacy, renal response and one point five times more likely to have a complete renewal response than those who received placebo differences between the trial groups with respect to the primary efficacy. Renal response appeared by week twenty four and were generally maintained through. Week one, zero, four on the basis of trial Millennium Ad may have a role in augmenting induction treatment with Michael Fennel eight Mo- fatal in patients with active Lupus nephritis greater specification of the patients who may potentially benefit is important as is testing whether Bolivia Mab might facilitate glucocorticoid tapering and whether the risks of end stage kidney disease and flares decrease in patients with poor prognostic factors. But Lemme map may be added to an expanding array of adjunctive treatment options, for Lupus, nephritis including new county, neuron inhibitors, and B. Cell depleting antibodies. randomized trial of nocturnal oxygen in chronic obstructive pulmonary disease by eve. Lucas. From attitude you need elxsi tail cow Elegy numerology BEC. lavelle Canada. LONG-TERM Therapy improves survival in patients with chronic obstructive, pulmonary disease, COPD and chronic severe daytime hypoglycemia. However, the efficacy of oxygen therapy for the management of isolated nocturnal hypoglycemia is uncertain in this study patients with an oxygen saturation of less than ninety percent for at least thirty percent of the recording time on nocturnal. Were assigned to receive either nocturnal oxygen or ambient air from a sham concentrator. Placebo recruitment was stopped prematurely because of recruitment and retention difficulties. After two, hundred, forty, three patients of a projected six hundred had undergone random mutation at twenty eight centers at three years of follow up thirty nine percent of the patients assigned to nocturnal oxygen and forty. Two percent of those assigned to Placebo met the nocturnal oxygen therapy trial not defined criteria for long-term oxygen therapy or had died difference minus three percentage points. This underpowered trial provides no indication that nocturnal oxygen has a positive or negative effect on survival or progression to long-term oxygen therapy in patients with COPD. five-year analysis of. DEBRIS NIB plus tremendous job in stage three melanoma by Reinhard Duma from university hospitals, Zero Cancer Center Switzerland. In the previously reported primary analysis of this randomized phase three trial twelve months of adamant debris definite plus tremendous job resulted in significantly longer relapse free survival than Placebo in eight, hundred, seventy patients with. Stage three melanoma with be Raff, V, six, hundred or V. Six hundred K. Mutations. -tations to confirm the stability of the relapse free survival benefit longer term data were needed in this five year follow up the percentage of patients who were alive without relapse was fifty, two percent with branded plus tremendous job and thirty six percent with placebo. The percentage of patients who were alive without distant metastases was. Sixty five percent with brandon plus traumatic and fifty four percent with placebo. No. Clinically meaningful between group differences in the incidence or severity of serious adverse events was reported during the follow up period in this five year follow up analysis twelve months of therapy with debris plus tremendous resulted in a longer duration of survival without relapse or distant metastases than placebo with no apparent locked term toxic effects. Targeting CD eight with Tara to MAB in refractory systemic lupus erythematosus by Leonard. Dove from shoddy own events, it takes medecine Berlin Germany. Systemic lupus erythematosus is a chronic systemic autoimmune disease characterized by auto antibody production and immune complex mediated tissue damage auto antibody secreting plasma cells are increasingly recognized as central drivers of chronic inflammation in Lupus but getting them represents a therapeutic challenge Darah Chu Mu Mab a human monoclonal antibody that targets CD thirty eight deplete plasma cells and is approved for the treatment of multiple Myeloma. These authors described the use of Darah to me? Mab, that induced substantial clinical responses in two patients with life threatening Lupus with the clinical responses sustained by maintenance therapy with Bolivia Mab an antibody to B cell activating factor significant depletion of long lived plasma cells reduction of Interferon type one activity, and down regulation of t cell transcripts associated with chronic inflammation were documented. Tolerance in the age of immunotherapy review article by Jeffrey Bluestone from the University of California San Francisco. The induction and maintenance of robust immune tolerance has been the holy grail of immunology for decades in the absence of robust unresponsiveness of the immune system to self antigens immune tolerance uncontrolled reactivity can lead to disorders like food allergies and autoimmune diseases although the first seminal experiments intolerance were conducted in the nineteen fifties, the development of novel tolerance inducing therapeutic drugs has been fraught with clinical challenges and feud durable successes in spite of advances in our understanding of the fundamental aspects of the immune system however, in recent years, new breakthroughs in our understanding of these basic mechanisms and. Maintenance of immune tolerance have led to clinical successes in the fields of organ transplantation and allergic and Autoimmune Diseases Moreover, novel Peptide, therapeutic? Drugs Anti. T cell antibodies, and self therapy's have set the stage for short term treatments of autoimmune diseases that have long term efficacy and eliminate the need for continuous therapy. During the past few decades a more detailed understanding of the molecular events associated with t cell recognition and activation has advanced various approaches to tolerance such as reprogramming co stimulatory blockade checkpoint in addition and antigen specific immune regulation. These authors review advances in developing durable immune tolerance. A sixty, six year old man with fever and shortness of breath after liver transplantation a case record of the Massachusetts. General. Hospital by Jay Fishman and colleagues. A sixty six year old man with hypertension diabetes. Hyper. Lipid -demia obesity chronic kidney disease and end stage liver disease for which he had undergone liver transplantation presented with fever and cough during the covid nineteen pandemic. Two days earlier fever chills, and diffuse myalgia developed. The patient also noted a dry cough at nausea on the day of admission. The patient learned that his sister had received a diagnosis of Covid nineteen and he was concerned that his symptoms might also be caused by infection with SARS covy to prompting him to present to a neighborhood health center further evaluation in an emergency department. Was recommended chest X. Ray revealed patchy confident airspace opacity in the mid to lower lungs intravenous normal sailing, intravenous triax zone, and oral from my were administered and the patient was admitted to the hospital. The next morning a PC, our test for SARS Kobe to are any showed a positive result during the next two days the temperature increased to thirty nine point, two degrees, centigrade chills. And cough continued Disney increased and headache diarrhea and occasional vomiting developed on the morning of the Fifth Hospital Day. The oxygen saturation fell below ninety percent while the patient was receiving supplemental oxygen through a Nasal Kanye, the patient was admitted to the ICU. Initial presentation of cove in nineteen vary in both normal and immuno-compromised hosts. The heterogeneous progression of SARS covy to infection in the context of solid organ transplantation emphasizes the role of the immune response as a driver of clinical progression. This case discusses the management and treatment of SARS. covy to infection in patients who have undergone solid organ transplantation. Consent trainee involvement in Pediatric, care a perspective article by Emily l'argent from the University of Pennsylvania Perlman School of Medicine Philadelphia. Dr Emily l'argent is the mother of a chronically ill child who's care has always included trainees. She has recounted her daughter's medical history to residents from the day. They received her initial diagnosis. She has wiped angry tears from her daughter's is after an attending physician narrating her exam to a student offhandedly remarked about a physical finding that nobody wants to see that. Doctor l'argent has learned the half life of her daughter's patients while watching intern struggle with equipment and fumble through procedures. Dr. l'argent is also a bio ethicist these two perspectives personal and professional have intersected to shape her views regarding consent to the involvement of trainees in pediatric care her daughter has happened to receive care at leading children's hospitals which have a tripartite mission encompassing excellent patient, care, innovative research, and education of future pediatric leaders. Each prong of this mission directly affects her daughter and herself as a mother Dr Largen routinely confronts decisions about Care Research. Training yet when she looks to her professions literature on pediatric decision making she finds that consent to the involvement of students, interns and residents received scant attention as compared with consent for either care or research. Examining examinations conducted under anesthesia a perspective by Michael Green from Massachusetts General Hospital Boston. The common practice of allowing medical trainees to perform intimate intrusive examinations such as those of the vagina or rectum on patients under general anesthesia in the operating room. Immediately, before a surgical procedure has received deserved attention and criticism in both the medical and lay press much of the concern has been focused on issues regarding the frequent lack of informed consent for such examinations and perhaps more problematic. The common perception among clinicians that failing to obtain consent is an acceptable and routine practice. These concerns have resulted in legislation in several states, requiring clinicians to obtain informed written consent before trainees can conduct examinations when a patient will be under anesthesia. There can be no legitimate objection to respecting patients, rights to privacy and bodily autonomy. The central dilemma here, which requires acknowledgement is that all patients want and expect their clinicians to be skilled and experienced before caring for them. Yet people frequently have difficulty reconciling that desire with the notion that at some point, every competent clinician was an unskilled trainee who needed to learn those skills on real living human beings with rights to privacy and bodily. While, trainees must practice to learn. We must also respect patients rights to privacy and bodily autonomy. The informed consent process shoot include an honest conversation between the clinician and the patient during which the clinician does her or his best to level the playing field minimize any potential for subtle coercion and make it clear that the patient always has the right to decline examinations by trainees that are conducted for teaching purposes. Clinicians should help patients recognize their shared interest in training future providers and reassure patients that any participation of trainee in their care will be respectful and supervised appropriately. Ultimately patients. Preferences should be documented and honored under all, but the most urgent or unexpected circumstances. June medical services, versus Russo a threat to physicians standing to challenge abortion regulations a perspective by Joanne Rosen from Johns Hopkins. Bloomberg. School. Of Public. Health. Baltimore. In June medical services versus Russo. The US Supreme Court considered to issues of substantial importance to people seeking abortions and the physicians who provide them the constitutional validity of act six twenty. Louisiana's admitting privileges requirement for abortion providers and the legal entitlement or standing of physicians to bring suit to challenge abortion regulations. The court's decision issued on June twenty-ninth to invalidate the admitting privileges requirement, which was nearly identical to a Texas law invalidated by the court in whole women's health versus Heller set in two thousand sixteen has deservedly been the focus most of the attention the case has received in addition the court rejected Louisiana's request to revisit long established precedent and deny standing to the physicians who challenge the requirement. The dissenting justices vigorous discussion physicians entitlement to challenge abortion regulations, signals that the battle over standing is far from over however, questions about standing may be a new strategic front in abortion litigation. Today's dissenting arguments may over time and especially with changes in the composition of the court gain greater support and become tomorrow's. Though a seemingly technical legal issue physician standing to sue has serious implications for access to abortion and for the accurate characterization of the relationship between physicians and patients. Sticks and stones confronting the full spectrum of racism a perspective article by Lisa. Collie from the University of Ottawa Canada on May Twenty Fifth Amy Cooper unexpectedly stepped into the spotlight as the face of racism in an incident in Central Park in New York that quickly went viral Ms Cooper threatened to and then did falsely claimed that a black man Christian Cooper was threatening her life after he asked her to leash her dog captured on video placing an emergency call ms cooper audibly and visibly changed her tone and demeanor to mimic those of a person in distress in an attempt to. Rally police support tried in the court of Public Opinion Ms Cooper was widely condemned on social media. Outrage was the clear overtone of many of the initial responses to Ms Cooper's words and actions, but it was not long before some people questioned either outright or in hushed voices whether she had been punished too severely should we be concerning ourselves with verbal acts of racism even as yet another black man in the United States is under the weight of white oppression after all the police found that Mr Cooper was not at fault and he walked away from the incident without any visible wounds. Want racists, sticks and stones are still breaking bones do racist words really matter even as we focus greater attention on combating racist violence, we should remember racial is language and discriminatory behavior can have dire consequences. There is evidence to suggest that words and inaction carry a burden of their own experiencing racism whether institutional personal is associated with poor health exposure to everyday racism and discrimination is a powerful source of psychological distress for Black Americans. Are Images in clinical medicine features a sixty two year old man who presented to the emergency department with a one day history of fever and two three day history of chest pain. His medical history was notable for coronary heart disease and for a splenectomy that he had undergone after a car accident four days before presentation, he had been bitten on the left hand by his dog and had sustained three bite wounds. Laboratory studies showed a White Cell Count of sixteen, thousand, seven, hundred per cubic millimetre, a platelet count of three thousand. One hundred per cubic millimetre and approach calcitonin level of more than one hundred micrograms per liter blood cultures were obtained and treatment with broad spectrum, antibiotic agents, intravenous fluids, and nor epinephrine was initiated review of a peripheral blood smear showed the presence of both intracellular and extra cellular bestseller form bacteria capital Tafa Cannon. Morse's cultured after seventeen hours. Seek Hannam Morse's is part of the oral flora of healthy cats, dogs and can be transmitted to humans through animal bites. The bacterium can cause particularly severe infection in patients with a history of splenectomy. Despite. Treatment the patient died two days after admission. In another image at fifty six year old man presented to the emergency department with a two month history of fatigue weight loss of ten kilograms, night sweats, and fever. He had a cough producing sputum that was occasionally blood tinged. He had immigrated to the United States from Haiti ten years earlier on examination temperature was thirty, six point, two degrees centigrade he was breathing comfortably but appeared ca-catch Celtic, on astral. Tation the volume of air flow was equal in both lungs without crackles or we's dilated Fundus copy showed polymorphic y'all lesions with indiscreet borders in the posterior poles of both eyes. Chest X. Ray revealed widely distributed modules of uniform size throughout both long fields a finding that was consistent with miliary tuberculosis. The ocular findings were consistent with Corroye dol tuber goals a sputum sample with swear positive for acid fast bacilli the patient receiving combination therapy with revamp in ice on is it appears in amid endothelium Utah. After one week of therapy, a repeat sputum sample was smear negative for acid fast bacilli pan sensitive mycobacterium to burke yellow says was cultured from the initial sputum sample after six weeks after the initiation of treatment, the patient's symptoms improved and he completed six months of therapy. This concludes our summary Let us know what you think about our audience summaries. Any comments or suggestions may be said to audio at any J. M. Dot Org. Thank you for listening.