Our Picks

A team of scientists in Montreal and Paris has succeeded in identifying the gene responsible for the development of a food-dependent form of Cushing’s Syndrome, a rare disease affecting both adrenal glands.

In their study published in The Lancet Diabetes & Endocrinology, Dr. Isabelle Bourdeau and Dr. Peter Kamenicky identify in the gene KDM1A the mutations responsible for the development of this unusual form of the disease.

The scientists also show, for the first time, that the disease is genetically transmitted.

Bourdeau is a researcher and a Université de Montréal medical professor practising at the CHUM Research Centre (CRCHUM), while Kamenicky works at the Hôpital de Bicêtre, part of the Assistance publique-hôpitaux de Paris network in France.

Cushing’s Syndrome is caused by the overproduction of cortisol, a steroid hormone, by the two adrenal glands located above the kidneys.

“When the tissues of the human body are exposed to this excess of cortisol, the effects for those with the disease are serious: weight gain, high blood pressure, depression, osteoporosis, and heart complications, for example,” said Bourdeau, co-lead author of the study with Dr. Fanny Chasseloup, a colleague from the French team.

This discovery comes nearly 30 years after food-induced Cushing’s Syndrome was first described in 1992 by a research group led by Dr. André Lacroix at the CRCHUM and his colleagues Drs. Johanne Tremblay and Pavel Hamet.

What You Need to Know

COVID-19 Vaccine booster shots are available for the following Pfizer-BioNTech vaccine recipients who completed their initial series at least 6 months ago and are:

65 years and older


Age 18+ who live in long-term care settings


Age 18+ who have underlying medical conditions


Age 18+ who work in high-risk settings


Age 18+ who live in high-risk settings


 

Those "underlying medical conditions" include diabetes and obesity.

Personal Stories:

From my bio:  (At the NIH in October 1987) The MRI still showed nothing, so they did a Petrosal Sinus Sampling Test. That scared me more than the prospect of surgery. (This test carries the risk of stroke and uncontrollable bleeding from the incision points.)

Catheters were fed from my groin area to my pituitary gland and dye was injected. I could watch the whole procedure on monitors. I could not move during this test or for several hours afterwards to prevent uncontrollable bleeding from a major artery.

The test did show where the tumor probably was located.

Also done were more sophisticated dexamethasone suppression tests where drugs were administered by IV and blood was drawn every hour (they put a heplock in my arm so they don't have to keep sticking me). I got to go home for a weekend and then went back for the surgery...

_____ 

From Karen's Story: https://cushingsbios.com/2016/11/18/doc-karen-pituitary-and-bla-bio/

At that time, there was evidence of a pit tumor but it wasn’t showing up on an MRI. So, I had my IPSS scheduled. An IPSS stands for Inferior Petrosal Sinus Sampling. It is done because 60 % of Cushing’s based pituitary tumors are so small that they do not show up on an MRI. Non Cushing’s experts do not know this so they often blow patients off, even after the labs show a high level of ACTH in the brain through blood work. An overproduction of the hormone ACTH from the pituitary communicates to the adrenal glands to overproduce cortisol. Well, the IPSS procedure is where they put catheters up through your groin through your body up into your head to draw samples to basically see which side of your pituitary the extra hormone is coming from, thus indicating where the tumor is. U of C is the only place in IL that does it...

Neurologist Accused of Sexual Assault

A neurologist at Beth Israel Medical Center in New York has been accused of repeatedly sexually assaulting patients over the course of a decade, but was still able to secure three jobs in three states until surrendering his license in 2017, a new lawsuit with multiple plaintiffs revealed.

The New York Times reports that Ricardo Cruciani, MD, prescribed a high volume of pain medication and then sexually abused women who relied on him for their care, even withholding the habit-forming medications if they resisted his attacks.

This pattern is nothing new, with several recent accusations against high-profile physicians who abused patients without consequences for years. James DuBois, PhD, ScD, a bioethicist at Washington University in St. Louis, told the New York Times, "One of the biggest scandals is just how often a person who offends, offends repeatedly."

DuBois said that physicians "manage to continue practicing. Sometimes they move states to keep their license. Sometimes they just move institutions."

That's exactly what Cruciani did, hopping from Beth Israel in New York to Capital Institute for Neurosciences in New Jersey and finally, Drexel University in Pennsylvania.

The women who recounted their assaults also say that staff and administrators turned a blind eye to their complaints, refusing to accompany patients in his office and dismissing their accounts. Cruciani practiced for over 35 years and has yet to serve any jail time since he was arrested in 2017.

He was charged with sexual assault in Pennsylvania and took a plea deal requiring him to surrender his license and be listed as a registered sex offender. He still faces criminal charges in New York and New Jersey and is free on $1 million bail.

Dear friends and family:

I am writing this letter to share with you some basic facts about Cushing’s Disease/Syndrome and the recovery process so that you will have sufficient information to form realistic expectations about me and my ability to engage in certain activities in light of this disease and its aftermath.

As you know, Cushing’s is a rarely diagnosed endocrine disorder characterized by hypercortisolism. Cortisol is a hormone produced by the adrenal glands and is vital to regulate the body’s cardivoascular functions and metabolism, to boost the immune system and to fight inflammation. But its most important job is to help the body to respond to stress.

The adrenal glands release cortisol in response to stress, so atheletes, women experiencing pregnancy, and those suffering from alcoholism, panic disorders and malnutrition naturally have higher-than-normal levels of cortisol.

People with Cushing’s Syndrome live life with too much cortisol for their bodies as a result of a hormone-secreting tumor. Mine is located in the pituitary gland. Endogenous hypercortisolism leaves the body in a constant state of “fight or flight,” which ravages the body and tears down the body’s major systems including cardivascular, musculo-skeletal, endocrine, etc.

Symptoms vary, but the most common symptoms include rapid, unexplained weight gain in the upper body with increased fat around the neck and face (“moon facies”); buffalo hump; facial flushing/plethora; muscle wasting in the arms and legs; purplish striae (stretch marks) on the abdomen, thighs, buttocks, arms and breasts; poor wound healing and bruising; severe fatigue; depression, anxiety disorders and emotional lability; cognitive difficulties; sleep disorders due to abnormally high nighttime cortisol production; high blood pressure and high blood sugar/diabetes...

Abstract

Background

The most common etiologies of Cushing's syndrome (CS) are adrenocorticotropic hormone (ACTH)-producing pituitary adenoma (pitCS) and primary adrenal gland disease (adrCS), both of which burden patients with metabolic disturbance. The aim of this study was to compare the metabolic features of pitCS and adrCS patients.

Methods

A retrospective review including 114 patients (64 adrCS and 50 pitCS) diagnosed with CS in 2009–2019 was performed. Metabolic factors were then compared between pitCS and adrCS groups.

Results

Regarding sex, females suffered both adrCs (92.2%) and pitCS (88.0%) more frequently than males. Regarding age, patients with pitCS were diagnosed at a younger age (35.40 ± 11.94 vs. 39.65 ± 11.37 years, P = 0.056) than those with adrCS, although the difference was not statistically significant. Moreover, pitCS patients had much higher ACTH levels and more serious occurrences of hypercortisolemia at all time points (8 AM, 4 PM, 12 AM) than that in adrCS patients. Conversely, indexes, including body weight, BMI, blood pressure, serum total cholesterol, LDL-C, HDL-C, triglycerides, fasting plasma glucose, and uric acid, showed no differences between adrCS and pitCS patients. Furthermore, diabetes prevalence was higher in pitCS patients than in adrCS patients; however, there were no significant differences in hypertension or dyslipidemia prevalence between the two.

Conclusions

Although adrCS and pitCS had different pathogenetic mechanisms, different severities of hypercortisolemia, and different diabetes prevalences, both etiologies had similar metabolic characteristics.

Keywords

Cushing's syndrome



Pituitary Cushing's



Adrenal Cushing's



Metabolic disturbance



 




From https://www.sciencedirect.com/science/article/pii/S2095882X21000669



 

https://doi.org/10.1016/j.radcr.2021.07.093

 

Abstract

The chronic excess of glucocorticoids results in Cushing's syndrome. Cushing's syndrome presents with a variety of signs and symptoms including: central obesity, proximal muscle weakness, fatigue striae, poor wound healing, amenorrhea, and others.

ACTH independent Cushing's syndrome is usually due to unilateral adenoma. A rare cause of it is bilateral adrenal adenomas.

In this paper we report a case of a 43-year-old woman with Cushing's syndrome due to bilateral adrenal adenoma.

Read the case report at https://www.sciencedirect.com/science/article/pii/S1930043321005690

The occurrence of different subtypes of endogenous Cushing’s syndrome (CS) in single individuals is extremely rare. We here present the case of a female patient who was successfully cured from adrenal CS 4 years before being diagnosed with Cushing’s disease (CD).

The patient was diagnosed at the age of 50 with ACTH-independent CS and a left-sided adrenal adenoma, in January 2015. After adrenalectomy and histopathological confirmation of a cortisol-producing adrenocortical adenoma, biochemical hypercortisolism and clinical symptoms significantly improved.

However, starting from 2018, the patient again developed signs and symptoms of recurrent CS. Subsequent biochemical and radiological workup suggested the presence of ACTH-dependent CS along with a pituitary microadenoma.

The patient underwent successful transsphenoidal adenomectomy, and both postoperative adrenal insufficiency and histopathological workup confirmed the diagnosis of CD...

This conference will present the newest approaches and techniques in the diagnosis and treatment of pituitary adenomas, including acromegaly and Cushing’s disease. Diagnosis and treatment will be covered from the interdisciplinary and interprofessional perspective of endocrinology, radiology, neuro-ophthalmology, neurosurgery, and radiation oncology. Didactic presentations will include case discussions. The conference format, although virtual will provide a significant opportunity for interaction with expert faculty. A simulcast of transsphenoidal surgery will occur throughout the conference with real-time discussion and case review of the progress on the day of surgery, post-op management, surveillance and follow-up care. Participants will leave with up-to-date, practical information and written resources including: DDAVP stimulation protocol for Cushing’s disease localization, perioperative glucocorticoid and salt-water monitoring protocol, clinic note templates, laboratory testing panels, "Sick Day Rules" letter for patients with adrenal insufficiency.  These materials will have immediate clinical application and help streamline care of pituitary patients at the office and during hospitalizations....

LEARNING OBJECTIVES – PATIENTS

Upon completion of this course patients, families and advocates will be able to:

Identify the latest advances in pituitary tumor treatment
Demonstrate familiarity with the terminology and technical aspects of pituitary tumor care
Demonstrate patient-active behavior in working with the healthcare team to make ongoing treatment decisions


WHO SHOULD ATTEND

This activity has been designed for endocrinologists, neurosurgeons, ophthalmologists, gynecologists, general radiologists, nurse practitioners, nurses, residents and fellows. Additionally, patients and their caregivers, family members, advocates and members of the public who may benefit from understanding current innovative approaches to pituitary tumor care are invited.

Cushing’s syndrome is a rare disorder that occurs when the body is exposed to too much cortisol. Cortisol is produced by the body and is also used in corticosteroid drugs. Cushing's syndrome can occur either because cortisol is being overproduced by the body or from the use of drugs that contain cortisol (like prednisone).

 

Cortisol is the body’s main stress hormone. Cortisol is secreted by the adrenal glands in response to the secretion of adrenocorticotropic hormone (ACTH) by the pituitary. One form of Cushing’s syndrome may be caused by an oversecretion of ACTH by the pituitary leading to an excess of cortisol.

 




Cortisol has several functions, including the regulation of inflammation and controlling how the body uses carbohydrates, fats, and proteins. Corticosteroids such as prednisone, which are often used to treat inflammatory conditions, mimic the effects of cortisol.

Stay tuned for more basic info...

 

Abstract

Neuroendocrine neoplasms (NENs) causing ectopic Cushing's syndrome (ECS) are rare and challenging to treat. In this retrospective cohort study, we aimed to evaluate different approaches for bilateral adrenalectomy (BA) as a treatment option in ECS. Fifty-three patients with ECS caused by a NEN (35 females/18 men; mean ± SD age: 53 ± 15 years) were identified from medical records. Epidemiological and clinical parameters, survival, indications for surgery and timing, as well as duration of surgery, complications and surgical techniques, were collected and further analysed. The primary tumour location was thorax (n = 30), pancreas (n = 14) or unknown (n = 9). BA was performed in 37 patients. Median time from diagnosis of ECS to BA was 2 months (range 1–10 months). Thirty-two patients received different steroidogenesis inhibitors before BA to control hypercortisolaemia. ECS resolved completely after surgery in 33 patients and severe peri- or postoperative complications were detected in 12 patients. There were fewer severe complications in the endoscopic group compared to open surgery (p = .030). Posterior retroperitoneoscopic BA performed simultaneously by a two surgeon approach had the shortest operating time (p = .001). Despite the frequent use of adrenolytic treatment, BA was necessary in a majority of patients to gain control over ECS. Complication rate was high, probably as a result of the combination of metastatic disease and metabolic disorders caused by high cortisol levels. The two surgeon approach BA may be considered as the method of choice in ECS compared to other BA approaches as a result of fewer complications and a shorter operating time.

This article was originally published here

J Clin Endocrinol Metab. 2021 Sep 3:dgab659. doi: 10.1210/clinem/dgab659. Online ahead of print.

ABSTRACT

CONTEXT: Confirming a diagnosis of Cushing’s disease (CD) remains challenging yet is critically important before recommending transsphenoidal surgery for adenoma resection.

OBJECTIVE: To describe predictive performance of preoperative biochemical and imaging data relative to post-operative remission and clinical characteristics in patients with presumed CD.

DESIGN, SETTING, PATIENTS, INTERVENTIONS: Patients (n=105; 86% female) who underwent surgery from 2007-2020 were classified into 3 groups: Group A (n=84) pathology-proven ACTH adenoma; Group B (n=6) pathology-unproven but with postoperative hypocortisolemia consistent with CD, and Group C (n=15) pathology-unproven, without postoperative hypocortisolemia. Group A+B were combined as Confirmed CD and Group C as Unconfirmed CD.

MAIN OUTCOMES: Group A+B was compared to Group C regarding predictive performance of preoperative 24-hour urinary free cortisol (UFC), late night salivary cortisol (LNSC), 1mg dexamethasone suppression test (DST), plasma ACTH, and pituitary MRI.

RESULTS: All groups had a similar clinical phenotype. Compared to Group C, Group A+B had higher mean UFC (p<0.001), LNSC(p=0.003), DST(p=0.06), ACTH(p=0.03) and larger MRI-defined lesions (p<0.001). The highest accuracy thresholds were: UFC 72 µg/24hrs; LNSC 0.122 µg/dl, DST 2.70 µg/dl, and ACTH 39.1 pg/ml. Early (3-month) biochemical remission was achieved in 76/105 (72%) patients: 76/90(84%) and 0/15(0%) of Group A+B versus Group C, respectively, p<0.0001. In Group A+B non-remission was strongly associated with adenoma cavernous sinus invasion.

CONCLUSIONS: Use of strict biochemical thresholds may help avoid offering transsphenoidal surgery to presumed CD patients with equivocal data and improve surgical remission rates. Patients with Cushingoid phenotype but equivocal biochemical data warrant additional rigorous testing.

PMID:34478542 | DOI:10.1210/clinem/dgab659

...The pituitary gland acts like a double-edged sword for COVID-19. On one end, hypopituitarism predisposes patients to metabolic disorders like DM, obesity, and VFs, all of which are known risk factors for COVID-19.

On the other hand, COVID-19 may cause direct or indirect damage to the pituitary glands by entering the brain and inducing unfavorable vascular events – though evidence on this remains lesser in comparison to that of hypopituitarism. Ultimately, the researchers of the current study conclude that managing patients with hormonal insufficiencies optimally with steroids is likely to improve outcomes in severe COVID-19....

Christina Tatsi, Maria E. Bompou, Chelsi Flippo, Meg Keil, Prashant Chittiboina, Constantine A. Stratakis







First published: 25 August 2021

 


https://doi.org/10.1111/cen.14560









 




Abstract

Objective

Diagnostic workup of Cushing disease (CD) involves imaging evaluation of the pituitary gland, but in many patients no tumour is visualised. The aim of this study is to describe the association of magnetic resonance imaging (MRI) findings with the postoperative course of paediatric and adolescent patients with CD.

Patients

Patients with a diagnosis of CD at less than 21 years of age with MRI evaluation of the pituitary before first transsphenoidal surgery were included.

Measurements

Clinical, imaging and biochemical data were analysed.

Results

One hundred and eighty-six patients with paediatric or adolescent-onset CD were included in the study. Of all patients, 127 (68.3%) had MRI findings consistent with pituitary adenoma, while the remaining had negative or inconclusive MRI. Patients with negative MRI were younger in age and had lower morning cortisol and adrenocorticotropin levels. Of 181 patients with data on postoperative course, patients with negative MRI had higher odds of not achieving remission after the first surgery (odds ratio = 2.6, 95% confidence intervals [CIs] = 1.1–6.0) compared to those with positive MRI. In patients with remission after first transsphenoidal surgery, long-term recurrence risk was not associated with the detection of a pituitary adenoma in the preoperative MRI (hazard risk = 2.1, 95% CI = 0.7–5.8).

Conclusions

Up to one-third of paediatric and adolescent patients with CD do not have a pituitary tumour visualised in MRI. A negative MRI is associated with higher odds of nonremission after surgery; however, if remission is achieved, long-term risk for recurrence is not associated with the preoperative MRI findings.

Full text at https://onlinelibrary.wiley.com/doi/full/10.1111/cen.14560

J Clin Endocrinol Metab. 2021 Jul 29:dgab557. doi: 10.1210/clinem/dgab557. Online ahead of print.

CONTEXT: Coronavirus disease 2019 (COVID-19) is a proinflammatory and prothrombotic condition, but its impact on adrenal function has not been adequately evaluated.

CASE REPORT: A 46-year-old woman presented with abdominal pain, hypotension, and skin hyperpigmentation after COVID-19 infection. The patient had hyponatremia, serum cortisol <1.0 µg/dL, adrenocorticotropin (ACTH) of 807 pg/mL, and aldosterone ❤️ ng/dL. Computed tomography (CT) findings of adrenal enlargement with no parenchymal and minimal peripheral capsular enhancement after contrast were consistent with bilateral adrenal infarction. The patient had autoimmune hepatitis and positive antiphospholipid antibodies, but no previous thrombotic events. The patient was treated with intravenous hydrocortisone, followed by oral hydrocortisone and fludrocortisone.

DISCUSSION: We identified 9 articles, including case reports, of new-onset adrenal insufficiency and/or adrenal hemorrhage/infarction on CT in COVID-19. Adrenal insufficiency was hormonally diagnosed in 5 cases, but ACTH levels were measured in only 3 cases (high in 1 case and normal/low in other 2 cases). Bilateral adrenal nonhemorrhagic or hemorrhagic infarction was identified in 5 reports (2 had adrenal insufficiency, 2 had normal cortisol levels, and 1 case had no data). Interestingly, the only case with well-characterized new-onset acute primary adrenal insufficiency after COVID-19 had a previous diagnosis of antiphospholipid syndrome. In our case, antiphospholipid syndrome diagnosis was established only after the adrenal infarction triggered by COVID-19.

CONCLUSION: Our findings support the association between bilateral adrenal infarction and antiphospholipid syndrome triggered by COVID-19. Therefore, patients with positive antiphospholipid antibodies should be closely monitored for symptoms or signs of acute adrenal insufficiency during COVID-19

Robert Heller, M.D., has joined Albany Med’s Department of Neurosurgery and has been named assistant professor of neurosurgery at Albany Medical College. He specializes in the surgical treatment of pituitary tumors, meningiomas, acoustic neuromas and gliomas. He is also skilled in stereotactic radiosurgery, a precisely targeted form of radiation therapy to treat tumors.

As a cranial and skull base surgeon, Dr. Heller will work with a team comprised of neurosurgeons, radiation oncologists, and ear, nose and throat surgeons who make up Albany Med’s Pituitary and Minimally Invasive Cranial Base Surgery Program.

Dr. Heller completed a complex cranial and skull base neurosurgery fellowship at Tampa General Hospital and University of South Florida in Tampa. He completed his residency training at Tufts Medical Center in Boston, where he also received his medical degree. His research interests include clinical outcomes in minimally invasive approaches to skull base surgery, and he has authored or co-authored nearly two dozen journal articles and book chapters. His professional society memberships include the American Association of Neurological Surgeons and the North American Skull Base Society.

He resides in Delmar.

Dr. Heller is seeing patients at Albany Med’s Department of Neurosurgery at 43 New Scotland Ave. To schedule an appointment or for more information, call the Department of Neurosurgery at (518) 262-5088.

 

 

Media Inquiries:

Sue  Ford Rajchel

fords@amc.edu

(518) 262 - 3421

Dr. Friedman is getting a lot of emails on booster shots versus third shots. Third shots are for immuno-compromised patients that the FDA is recommending for a small group of patients The FDA also has the intention to soon make booster doses widely available to all healthy individuals. I am writing to clarify the difference between booster shots and third doses.

Third Doses for Immuno-Compromised Patients
The purpose of a third dose of mRNA vaccine is to give immuno-compromised patients the same level of protection that two doses provide someone who has a normal immune system.
It is recommended that the following people get a third dose

Been receiving cancer treatment for tumors or cancers of the blood

Received an organ transplant and are taking medicine to suppress the immune system

Received a stem cell transplant within the last two years or are taking medicine to suppress the immune system

Been diagnosed with moderate or severe immunodeficiency conditions (such as DiGeorge syndrome, Wiskott-Aldrich syndrome) 

An advanced or untreated HIV infection

Been under active treatment with high-dose corticosteroids (> 20 mg of prednisone or 100 mg of hydrocortisone) or other drugs that may suppress immune response


Dr. Friedman thinks it is unlikely that any of his patients have these conditions.
Patients with Cushing’s syndrome, Addison’s, diabetes or thyroid disorders do not qualify.

Cushing disease is caused by tumour in the pituitary gland which leads to excessive secretion of a hormone called adrenocorticotrophic (ACTH), which in turn leads to increasing levels of cortisol in the body. Cortisol is a steroid hormone released by the adrenal glands and helps the body to deal with injury or infection.

Increasing levels of cortisol increases the blood sugar and can even cause diabetes mellitus. However the disease is also caused due to excess production of hypothalamus corticotropin releasing hormone (CRH) which stimulates the synthesis of cortisol by the adrenal glands. The condition is named after Harvey Cushing, the doctor who first identified the disease in 1912. Cushing disease results in Cushing syndrome.

Cushing syndrome is a group of signs and symptoms developed due to prolonged exposure to cortisol. Signs and symptoms of Cushing syndrome includes hypertension, abdominal obesity, muscle weakness, headache, fragile skin, acne, thin arms and legs, red stretch marks on stomach, fluid retention or swelling, excess body and facial hair, weight gain, acne, buffalo hump, tiredness, fatigue, brittle bones, low back pain, moon shaped face etc. Symptoms vary from individual to individual depending upon the disease duration, age and gender of the patient....

1) Visit RareVoiceAwards.org

2) Review the 2021 RareVoice categories 

3) Nominate an advocate who gave rare disease patients a voice on

Capitol Hill and in state government in 2020 and 2021.

4) Submit!

The RareVoice Awards recipients are chosen by a committee from nominations received from the rare disease community. 

 

Nominations close August 27th, 2021

Federal Advocacy – Congressional Staff
Honors congressional staffers who have worked to create and enact policies for the rare disease community

Federal Advocacy – Patient/Organization
Honors advocates or organizations that have worked to create and pass federal legislation

State Advocacy – State Legislator
Honors state legislators who have worked to create and enact policies for the rare disease community

State Advocacy – Patient/Organization
Honors advocates or organizations that have worked to create and pass state legislation

Federal or State Advocacy by a Teenager
Honors teen advocates that have advocated for state or federal legislation

Diversity Empowerment - Patient/Organization
Honors advocates or organizations that empowered diverse voices in advocacy

 Artist-to-Advocate
Honors individuals who have utilized their artwork to advocate for federal or state legislation

For information about sponsorship, please contact Elissa Taylor, etaylor@everylifefoundation.org

EveryLife Foundation For Rare Diseases
1012 14th Street, NW, Suite 500 | Washington, District of Columbia 20005
202-697-7273 | info@everylifefoundation.org

Each year, Global Genes convenes one of the world’s largest gatherings of rare disease patients, caregivers, advocates, healthcare professionals, researchers, partners and allies.

Join us for a variety of interactive and educational events, meet-ups, workshops and networking opportunities. Here you’ll have the opportunity to connect and engage with others in the rare disease community, while experiencing the sense of community and belonging we’ve missed so much. Gain insights about the latest in rare disease innovations, best practices for advocating on an individual and organizational level, and actionable strategies you can implement immediately to accelerate change.

The 2021 RARE Patient Advocacy Summit is a virtual event, happening Monday, September 27, 2021 through Wednesday, September 29, 2021.

2021 RARE Patient Advocacy Summit virtual registration is now open!

Register here: https://web.cvent.com/event/289bd182-abf4-49b0-90be-c2320566c276/regProcessStep1

Speakers: https://globalgenes.org/summit-featured-speakers/

Interested in becoming a speaker? Fill out the speaker inquiry form here.

SAN DIEGO, CA, USA I August 10, 2021 I Crinetics Pharmaceuticals, Inc. (Nasdaq: CRNX), a clinical stage pharmaceutical company focused on the discovery, development, and commercialization of novel therapeutics for rare endocrine diseases and endocrine-related tumors, today announced positive preliminary findings from the single ascending dose (SAD) portion of a first-in-human Phase 1 clinical study with CRN04894 demonstrating pharmacologic proof-of-concept for this first-in-class, investigational, oral, nonpeptide adrenocorticotropic hormone (ACTH) antagonist that is being developed for the treatment of conditions of ACTH excess, including Cushing’s disease and congenital adrenal hyperplasia.

“ACTH is the central hormone of the endocrine stress response. Even though we’ve known about its clinical significance for more than 100 years, there has never been an ACTH antagonist available to intervene in diseases of excess stress hormones. This is an important milestone for the field of endocrinology and for our company,” said Scott Struthers, Ph.D., founder and chief executive officer of Crinetics. “I am extremely proud of our team that conceived, discovered and developed CRN04894 this far. This is the second molecule to emerge from our in-house discovery efforts and demonstrate pharmacologic proof of concept. I am very excited to see what it can do in upcoming clinical studies.”...

An international panel reached consensus for pre- and postoperative endocrine testing to manage adults undergoing transsphenoidal surgery, including measurement of prolactin and insulin-like growth factor I levels for all pituitary tumors.

In adults and children, transsphenoidal surgery represents the cornerstone of management for most large or functioning sellar lesions with the exception of prolactinomas, Maria Fleseriu, MD, FACE, an Endocrine Today Editorial Board Member, professor of medicine and neurological surgery and director of the Pituitary Center at Oregon Health & Science University in Portland, and colleagues wrote in Pituitary. Endocrine evaluation and management are an essential part of perioperative care; however, the details of endocrine assessment and care are not universally agreed on...

The award will presented to Dr. Oyesiku at the Society’s 2021 Annual Meeting August 8-11.


 

Nelson M. Oyesiku, MD, PhD, FACS, Chair Chair of the UNC School of Medicine Department of Neurosurgery, will receive the Distinguished Service Award given by the Society of University Neurosurgeons at their 2021 Annual Meeting in Whitefish, Montana, August 8-11.

Abstract

Cushing’s disease is a rare endocrine condition in which a pituitary corticotroph adenoma drives excess adrenal cortisol production, and is one cause of endogenous Cushing’s syndrome. We present a young woman with 3 weeks of headaches and cognitive disturbance who subsequently developed florid psychosis requiring multiple admissions under neurology and psychiatry. Her clinical stigmata of hypercortisolism and biochemical abnormalities prompted an MR scan of the pituitary, which confirmed a pituitary microadenoma. Treatment with metyrapone and subsequent surgery led to complete recovery within 2 months. Cushing’s disease commonly causes neuropsychiatric symptoms and can present with psychosis. Diagnosing Cushing’s disease can be challenging, but with early diagnosis and treatment it has an excellent prognosis.

 





http://dx.doi.org/10.1136/practneurol-2021-002974

Get the full text

All of our country is very encouraged by the declining rates in both COVID-19 infections and death, due mostly to President Trump’s vaccine production and trial effort called Operation Warp Speed and President Biden’s vaccine distribution efforts. As of July 2021, The United States has administered 334,600,770 doses of COVID-19 vaccines, 184,132,768 people had received at least one dose while 159,266,536 people are fully vaccinated. The pandemic is by no means over, as people are still getting infected with COVID-19 with the emergence of the Delta Variant. In fact, recently cases, hospitalizations and deaths due to COVID-19 have gone up. In Los Angeles, the increased infection rate has led to indoor mask requirements.  The main reason that COVID-19 has not been eliminated is because of vaccine hesitancy, which is often due to misinformation propagated on websites and social media.  One of Dr. Friedman's patients gave him a link of an alternative doctor who gave multiple episodes of misinformation subtitled “Evidence suggests people who have received the COVID “vaccine” may have a reduced lifespan” about the COVID-19 vaccine that Dr. Friedman wants to address. Almost 30% of American say they will not get the vaccine, up from 20% a few months ago. 
 
Statistics are that people who are vaccinated have a 1:1,000,000 chance of dying from COVID, while people who are unvaccinated have a 1:500 chance of dying from COVID.  I think most people would take the 1:1,000,000 risk.  Dr. Friedman has always been a proponent of the COVID-19 vaccine because he is a scientist and bases his decisions on peer-reviewed literature and not social media posts. As we are getting to the stage where the COVID-19 pandemic could end if vaccination rates increase, he feels that it is even more important for people to get correct information about the COVID-19 vaccine. 
...
 
If you want the pandemic to end, please get vaccinated and encourage your friends and colleagues to get vaccinated. For more information or to schedule an appointment with Dr. Friedman, go to goodhormonehealth.com