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Cardiovasc Pathol 2020 May 23;49:107244. Epub 2020 May 23.

Area of Pathology, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Istituto di Anatomia Patologica, Università Cattolica Del Sacro Cuore, Rome, Italy.

Cardiac myxoma is a rare benign neoplasm of the heart. Historically myxomas were incidental findings during autopsies, however improved imaging techniques made these diagnosis possible in living patients, making the surgical treatment of these neoplasms achievable. Cardiac myxomas may occur both sporadically and in a familial context, often in the clinico-pathological picture of the Carney complex. Read More

Surg Neurol Int 2020 27;11:166. Epub 2020 Jun 27.

Department of Neurosurgery, Shinshu University School of Medicine, Asahi, Matsumoto, Nagano, Japan.

Background: Carney complex (CNC) is a rare autosomal dominant syndrome, manifesting mainly with cardiac, cutaneous, and mucosal myxomas. Osteochondromyxoma is known as an extremely rare bone lesion of CNC which usually appears early in life; however, there were no reports of primary bone myxoma of the skull in the patients with CNC. We present the first case of primary myxoid skull tumor in the patient with CNC. Read More

bioRxiv 2020 Jun 10. Epub 2020 Jun 10.

Department of Molecular Pharmacology, Physiology, and Biotechnology, Brown University, Providence, RI, USA.

Tightly packed complexes of nucleocapsid protein and genomic RNA form the core of viruses and may assemble within viral factories, dynamic compartments formed within the host cells. Here, we examine the possibility that the multivalent RNA-binding nucleocapsid protein (N) from the severe acute respiratory syndrome coronavirus (SARS-CoV-2) compacts RNA via protein-RNA liquid-liquid phase separation (LLPS) and that N interactions with host RNA-binding proteins are mediated by phase separation. To this end, we created a construct expressing recombinant N fused to a N-terminal maltose binding protein tag which helps keep the oligomeric N soluble for purification. Read More

Ear Nose Throat J 2020 Jun 11:145561320927913. Epub 2020 Jun 11.

Department of Otolaryngology-Head and Neck Surgery, Tahar Sfar Hospital, Mahdia, Tunisia.

Myxoma is a benign myxoid tumor of connective tissue that develops primarily in the heart. At the level of the external auditory canal, it is extremely rare. It can be isolated or associated with Carney syndrome. Read More

Endocr Relat Cancer 2020 Jun 1. Epub 2020 Jun 1.

R Gagel, Department of Endocrine Neoplasia and Hormonal Disorders, University of Texas MD Anderson Cancer Center, Houston, United States.

The multiple endocrine neoplasia (MEN) workshops had their beginnings at Queen's University in Kingston, Ontario in June, 1984. This initial meeting brought clinicians and scientists together to focus on mapping the gene for multiple endocrine neoplasia type 2 (MEN2). These efforts culminated in the identification of the RET protooncogene as the causative gene a decade later. Read More

Best Pract Res Clin Endocrinol Metab 2020 May 23:101428. Epub 2020 May 23.

Section on Endocrinology and Genetics & Inter-Institute Endocrinology Fellowship Program, Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, 20892, USA. Electronic address:

Advances in genomics over the past two decades have allowed for elucidation of the genetic alterations leading to the development of adrenocortical tumors and/or hyperplasias. These molecular changes were initially discovered through the study of rare familial tumor syndromes such as McCune-Albright Syndrome, Carney complex, Li-Fraumeni syndrome, and Beckwith-Wiedemann syndrome, with the identification of alterations in genes and molecular pathways that subsequently led to the discovery of aberrations in these or related genes and pathways in sporadic tumors. Genetic alterations in GNAS, PRKAR1A, PRKACA, PRKACB, PDE11A, and PDE8B, that lead to aberrant cyclic adenosine monophosphate-protein (cAMP) kinase A signaling, were found to play a major role in the development of benign cortisol-producing adrenocortical tumors and/or hyperplasias, whereas genetic defects in KCNJ5, ATP1A1, ATP2B3, CACNA1D, CACNA1H, and CLCN2 were implicated in the development of benign aldosterone-producing tumors and/or hyperplasias through modification of intracellular calcium signaling. Read More

Front Endocrinol (Lausanne) 2020 8;11:296. Epub 2020 May 8.

Department of Obstetrics and Gynecology, University Bonn Medical School, Bonn, Germany.

Carney complex (CNC) is a rare multiple endocrine neoplasia syndrome with autosomal dominant inheritance. Affected individuals present with mucocutaneous lentigines/blue nevi, cardiac and noncardiac myxomatous tumors, and multiple endocrine tumors. Mutations in have been identified as genetic cause of the disease. Read More

Arq Bras Cardiol 2020 Apr 18;114(4 Suppl 1):31-33. Epub 2020 May 18.

Unidad Hospitalaria Fray Antonio Alcalde, Hospital Civil de Guadalajara, Guadalajara, Jalisco, México.

Expert Opin Investig Drugs 2020 Jun 4:1-26. Epub 2020 Jun 4.

Department of Neurosurgery, University of Michigan Medical School , Ann Arbor, MI, USA.

Introduction: Gliomas are infiltrating brain tumors associated with high morbidity and mortality. Current standard of care includes radiation, chemotherapy, and surgical resection. Today, survival rates for malignant glioma patients remain dismal and unchanged for decades. Read More

Ethn Dis 2020 23;30(2):331-338. Epub 2020 Apr 23.

Center for Community Health Education Research and Service (CCHERS), Boston, MA.

Objectives: The metabolic syndrome (MetS) refers to a cluster of interrelated physiological characteristics that are associated with an increased risk of cardiovascular disease and diabetes. While the clinical usefulness of the MetS has been the subject of controversy for years, increasingly sophisticated methods are being used to measure the concept.

Participants: Study of community health center patients who were not diabetic; study group was evenly divided between Black and White adults. Read More

Endocr Relat Cancer 2020 Jun;27(6):355-360

Biomedical and Metabolic Imaging Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA.

This study aimed to evaluate liver involvement in patients with Carney complex (CNC) based on a large cohort and to analyze any germline PRKAR1A genotype-phenotype association of liver disease. The study included 83 patients with CNC, followed between 1995 and 2018 at a tertiary research center. We reviewed liver images, recorded types and number of lesions and analyzed per genotype: all patients were sequenced for the PRKAR1A gene. Read More

J Eur Acad Dermatol Venereol 2020 Apr 16. Epub 2020 Apr 16.

Department of Dermatology, Hôpitaux Universitaires de Strasbourg, Strasbourg Cedex, France.

Horm Metab Res 2020 Apr 16. Epub 2020 Apr 16.

Department of Endocrinology, CHU de Liège, Liège Université, Liège, Belgium.

Pituitary adenomas are benign tumors with variable functional characteristics that can have a significant impact on patients. The majority arise sporadically, but an inherited genetic susceptibility is increasingly being recognized. Recent advances in genetics have widened the scope of our understanding of pituitary tumorigenesis. Read More

Endokrynol Pol 2020 Apr 15. Epub 2020 Apr 15.

Department of Endocrinology, Centre of Postgraduate Medical Education, Bielanski Hospital, Cegłowska 80, 01-809 Warsaw, Poland.

We are presenting the difficulties we encountered with the female patient with previously diagnosed primary pigmented nodular adrenal disease (PPNAD) and conflicting hormonal and radiological findings a few years later. The patient underwent unilateral adrenalectomy in 2010. Despite repeated search, no other components of Carney's complex have ever been discovered. Read More

Medicina (B Aires) 2020 ;80(2):181-184

Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liege, Liege, Belgium. E-mail:

Most pituitary adenomas are sporadic, but 3-5% can occur in a family and hereditary context. This is the case of multiple endocrine neoplasia type 1 (MEN1), Carney complex (CNC) and familial isolated pituitary adenomas (FIPA). FIPA is an infrequent condition that occurs in a family context, not associated with MEN type1 or CNC. Read More

Case Rep Infect Dis 2020 22;2020:6396274. Epub 2020 Mar 22.

Department of Internal Medicine, Steward Carney Hospital, Tufts Medical Center, Boston, MA, USA.

A 27-year-old female patient initially presented with fever, myalgia, sore throat that progressed to multifocal pneumonia, and cerebral sinus venous thrombosis. A combination of upper respiratory symptoms with tooth infection, positive blood culture for , computed tomography (CT) chest finding of multifocal pneumonia, and magnetic resonance imaging (MRI) finding of internal jugular vein thrombosis (IJVT) and cerebral venous sinus thrombosis (CVST) suggested Lemierre syndrome. The patient was managed with fluids, antibiotics, and anticoagulants. Read More

Physiol Rep 2020 03;8(6):e14405

Department of Pharmaceutical Sciences, Washington State University, Spokane, WA, USA.

Protein kinase A (PKA) activity is pivotal for proper functioning of the human heart, and its dysregulation has been implicated in a variety of cardiac pathologies. PKA regulatory subunit 1α (R1α, encoded by the PRKAR1A gene) is highly expressed in the heart, and controls PKA kinase activity by sequestering PKA catalytic subunits. Patients with PRKAR1A mutations are often diagnosed with Carney complex (CNC) in early adulthood, and may die later in life from cardiac complications such as heart failure. Read More

Curr Opin Endocrinol Diabetes Obes 2020 Jun;27(3):132-139

Division of Endocrinology, Department of Medicine, Centre de Recherche du Centre hospitalier de l'Université de Montréal (CHUM), Université de Montréal, Québec, Canada.

Purpose Of Review: Primary micronodular bilateral adrenocortical hyperplasias (MiBAH) are rare challenging diseases. Important progress in understanding its pathophysiology and genetics occurred in the last two decades. We summarize those progress and recent data on investigation and therapy of MiBAH focusing on primary pigmented nodular adrenocortical disease (PPNAD). Read More

Kardiol Pol 2020 Apr 24;78(4):269-277. Epub 2020 Mar 24.

Cardiac myxoma is the most common benign cardiac tumor. It is located in the left atrium and typically arises from the foramen ovale in approximately 75% of the general patient population, in the right atrium in 23%, and in the ventricles in only 2%. Symptoms depend on its size, mobility, and relation to surrounding cardiac structures. Read More

Int J Surg Pathol 2020 Mar 24:1066896920913116. Epub 2020 Mar 24.

Department of Pathology, Kochi Medical School, Kohasu Oko-cho Nankoku, Kochi, Japan.

Superficial angiomyxoma is a rare, benign, multilobulated cutaneous tumor composed of stellate and spindle cells, a prominent myxoid matrix, and numerous blood vessels. Superficial angiomyxoma may be indistinguishable from cutaneous lesions of the Carney complex, although superficial angiomyxoma can occur independently of the complex. In this article, we present the case of a 39-year-old Japanese woman with a 40 × 30 mm, focally ulcerated, polypoid superficial angiomyxoma on the left nipple without any evidence of Carney complex. Read More

Nat Commun 2020 03 20;11(1):1489. Epub 2020 Mar 20.

Department of Biochemistry and Molecular Biology, University of Chicago, Chicago, IL, 60637, USA.

Axon pathfinding is critical for nervous system development, and it is orchestrated by molecular cues that activate receptors on the axonal growth cone. Robo family receptors bind Slit guidance cues to mediate axon repulsion. In mammals, the divergent family member Robo3 does not bind Slits, but instead signals axon repulsion from its own ligand, NELL2. Read More

Ann Pathol 2020 Apr 17;40(2):142-147. Epub 2020 Mar 17.

Service d'anatomie et cytologie pathologique, hospices civils de Lyon, centre hospitalier Lyon-Sud, 165, chemin grand revoyet, 69310 Pierre-Bénite, France; Inserm1052 CNRS5286, centre de recherche en cancérologie de Lyon, université Lyon 1, Lyon, France. Electronic address:

Familial thyroid cancers of follicular origin are rare and include syndromic and non-syndromic tumours. In familial adenomatous polyposis, the prevalence of papillary thyroid cancer is 2-12% and in 20-40% of cases it is a cribriform-morular papillary thyroid carcinoma. Morules and cribriform pattern are the two main typical criteria, associated with a nuclear and cytoplasmic immunopositivity for beta catenin. Read More

Wounds 2020 Feb;32(2):37-43

Collom & Carney Clinical Association, Texarkana, TX; Prisma Health, Greenville, SC.

Introduction: Chronic or senescent wounds are difficult to heal and often require a multimodal treatment plan. Negative pressure wound therapy (NPWT) or advanced wound dressings, such as oxidized regenerated cellulose (ORC)/collagen/silver-ORC dressings, can be used to promote granulation tissue development and stimulate wound healing in these complex wounds.

Objective: This article examines the use of ORC/collagen/silver-ORC dressings alone or subsequent to advanced wound therapies in a retrospective cohort of 24 patients. Read More

BMC Cardiovasc Disord 2020 Mar 5;20(1):119. Epub 2020 Mar 5.

University of Central Florida College of Medicine, Graduate Medical Education, Orlando, FL, 32827, USA.

Background: A cardiac myxoma in a young person may pose a diagnostic challenge as symptoms may be variable and the differential diagnosis is wide. The differential diagnosis can include rheumatic mitral valve disease, pulmonary hypertension, endocarditis, myocarditis and vasculitis.

Case Presentation: This case report involves a 49 years old female with a 2. Read More

Rev Invest Clin 2020 ;72(1):8-18

Experimental Endocrinology Unit, Hospital de Especialidades, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Mexico City, Mexico.

The pituitary gland is responsible for the synthesis and secretion of various hormones that play a key role in regulating endocrine function and homeostasis. Pituitary adenomas (PA) are benign epithelial tumors arising from the endocrine cells of the anterior pituitary gland. Clinically relevant PA are relatively common and they occur in 0. Read More

J Acoust Soc Am 2020 Feb;147(2):984

Department of Biomedical Engineering, University of Rochester, Rochester, New York 14642, USA.

Previous studies evaluated cues for masked tone detection using reproducible noise waveforms. Human results founded on this approach suggest that tone detection is based on combined energy and envelope (ENV) cues, but detection cues in nonhuman species are less clear. Decision variable correlation (DVC) was used to evaluate tone-in-noise detection cues in the budgerigar, an avian species with human-like behavioral sensitivity to many complex sounds. Read More

J Surg Oncol 2020 May 23;121(6):975-983. Epub 2020 Feb 23.

Division of Surgical Oncology, Department of Surgery, Medical College of Wisconsin, Milwaukee, Wisconsin.

Screening guidelines in patients with inherited endocrine syndromes and others at high risk for developing endocrine cancers have significant implications as early tumor detection is associated with improved outcomes. Given the unique challenges in diagnosis and treatment, patients at high risk for developing endocrine cancers require multidisciplinary care. The complexity of decision making and rarity of these syndromes support referral to high-volume centers with the experience and knowledge to treat these at-risk patients. Read More

Neuro Oncol 2020 02;22(2):195-206

Department of Cell and Developmental Biology and Department of Neurosurgery, University of Michigan Medical School, Ann Arbor, Michigan.

Diffuse intrinsic pontine glioma (DIPG) is a rare but deadly pediatric brainstem tumor. To date, there is no effective therapy for DIPG. Transcriptomic analyses have revealed DIPGs have a distinct profile from other pediatric high-grade gliomas occurring in the cerebral hemispheres. Read More

Neurology 2020 03 18;94(10):e1103-e1106. Epub 2020 Feb 18.

From the Department of Neurology (E.C., L.D., S.R.) and Department of Pediatrics (N.S., R.B., L.D., S.R.), Division of Pediatric Neurology, School of Medicine, University of Alabama at Birmingham.

Curr Opin Toxicol 2019 Jun;15(1):55-63

National Center for Computational Toxicology (NCCT), Office of Research and Development (ORD), U.S. Environmental Protection Agency (USEPA) Research Triangle Park NC 27711.

The more than 80,000 chemicals in commerce present a challenge for hazard assessments that toxicity testing in the 21 century strives to address through high-throughput screening (HTS) assays. Assessing chemical effects on human development adds an additional layer of complexity to the screening, with a need to capture complex and dynamic events essential for proper embryo-fetal development. HTS data from ToxCast/Tox21 informs systems toxicology models, which incorporate molecular targets and biological pathways into mechanistic models describing the effects of chemicals on human cells, 3D organotypic culture models, and small model organisms. Read More

J Dermatol 2020 Apr 3;47(4):e122-e124. Epub 2020 Feb 3.

Department of Dermatology, Graduate School of Medicine, University of the Ryukyus, Nishihara, Japan.

Medicine (Baltimore) 2020 Jan;99(3):e18783

Neurosurgery Department, Imam Abdulrahman Bin Faisal University, King Fahd Hospital of the University, Saudi Arabia.

Rationale: Primary melanin-producing tumors are rare extra-axial neoplasms OPEN of the central nervous system. In the literature, few case reports have discussed neoplasms involving the cavernous sinus; of these, only 4 have reported on neoplasms originating in Meckel cave. The diagnostic approach, including clinical and radiological analysis, is challenging, and cytopathological assessment with a molecular basis is the best approach to discriminate between these lesions. Read More

Quant Imaging Med Surg 2019 Dec;9(12):1958-1965

Department of Radiology, Boston University School of Medicine, Boston, MA 02118, USA.

Background: To introduce the concept of "ring sign" and to evaluate its role in the diagnostic imaging of osteochondromyxoma in patients with Carney complex (CNC).

Methods: Three patients presenting osteochondromyxoma with CNC were included for evaluation of the ring sign on different imaging modalities, including radiographs, computed tomography, and magnetic resonance imaging. The literature was reviewed for further discussion. Read More

J Clin Endocrinol Metab 2020 Mar;105(3)

INSERM U1016, CNRS UMR8104, Institut Cochin, Université Paris Descartes, Paris.

Introduction: Carney Complex (CNC) is a rare multiple endocrine and nonendocrine neoplasia syndrome. Manifestations and genotype-phenotype correlations have been described by retrospective studies, but no prospective study evaluating the occurrence of the different manifestations has been available so far.

Methods: This multicenter national prospective study included patients with CNC, primary pigmented nodular adrenal disease (PPNAD), or a pathogenic PRKAR1A mutation; after a full initial workup, participants were followed for 3 years with annual standardized evaluation. Read More

Eur Heart J 2020 01;41(1):193

Division of Cardiology, Severance Cardiovascular Hospital, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul, Republic of Korea.

Cancer Genet 2020 Feb 16;241:61-65. Epub 2019 Dec 16.

Laboratory of Medical Genetics, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract and rarely occur in pediatric patients. 85% of pediatric GISTs and 15% of adult GISTs lack of KIT or PDGFRA mutations. 40% of these "wild-type" GISTs present loss of function mutations in genes encoding for the subunits of the succinate dehydrogenase (SDH) complex. Read More

Cancer Nurs 2020 May/Jun;43(3):E159-E171

Author Affiliations: School of Nursing (Drs Bernier Carney, Starkweather, and Young) and Center for Advancement in Managing Pain, School of Nursing (Drs Guite, Young, and Starkweather), University of Connecticut, Storrs.

Background: Childhood cancer survivorship can be described as a lifelong experience that requires vigilant follow-up care and continual support. Although there is growing qualitative and quantitative literature on this experience, articles focusing on qualitative synthesis are lacking. Qualitative metasynthesis can further facilitate the knowledge of survivorship experiences to inform care. Read More

J Clin Med 2019 Dec 21;9(1). Epub 2019 Dec 21.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, MD 20892, USA.

The genetic landscape of pituitary adenomas (PAs) is diverse and many of the identified cases remain of unclear pathogenetic mechanism. Germline genetic defects account for a small percentage of all patients and may present in the context of relevant family history. Defects in (mutated in Familial Isolated Pituitary Adenoma syndrome or FIPA), (coding for , mutated in Multiple Endocrine Neoplasia type 1 or MEN 1), (mutated in Carney complex), (involved in X-Linked Acrogigantism or X-LAG), and (mutated in the so called "3 P association" of PAs with pheochromocytomas and paragangliomas or 3PAs) account for the most common familial syndromes associated with PAs. Read More

J Med Case Rep 2019 Dec 25;13(1):389. Epub 2019 Dec 25.

Departments of Pathology, Yale University School of Medicine, 310 Cedar Street, P.O. Box 208023, New Haven, CT, 06520-8023, USA.

Background: Atrial myxomas are generally considered benign neoplasms. The majority of tumors are sporadic and less than 10% are associated with an autosomal dominant condition known as the Carney complex, which is most often caused by germline mutation in the gene PRKAR1A. Whether this gene plays a role in the development of sporadic myxomas has been an area of debate, although recent studies have suggested that some fraction of sporadic tumors also carry mutations in PRKARIA. Read More

J Cardiovasc Comput Tomogr 2019 Nov 25. Epub 2019 Nov 25.

Department of Medical Imaging Center, The Second Affiliated Hospital of Nanchang University, China. Electronic address:

J Bone Miner Res 2020 Apr 30;35(4):738-752. Epub 2019 Dec 30.

Vascular Medicine Institute, Department of Medicine, University of Pittsburgh, Pittsburgh, PA, USA.

Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy seen in children. In addition to skeletal muscle, DMD also has a significant impact on bone. The pathogenesis of bone abnormalities in DMD is still unknown. Read More

Expert Rev Endocrinol Metab 2019 11 2;14(6):399-418. Epub 2019 Dec 2.

Department of Medicine, The University of Melbourne, Parkville, Australia.

: This review explores insights provided by next-generation sequencing (NGS) of pituitary tumors and the clinical implications.: Although syndromic forms account for just 5% of pituitary tumours, past Sanger sequencing studies pragmatically focused on them. These studies identified mutations in and causing Multiple Endocrine Neoplasia-1 (MEN1), MEN4, Carney Complex-1, McCune Albright Syndrome and 3P association syndromes, respectively. Read More

J Neurosurg Spine 2019 Nov 29:1-4. Epub 2019 Nov 29.

Departments of1Neurosurgery and.

Intramuscular myxomas (IMMs) are rare benign tumors of mesenchymal origin that are most often located in large skeletal muscles, particularly of the thigh. They have also been reported within the paraspinal musculature and should be considered in the differential diagnosis of a paraspinal mass. These lesions can cause neurological symptoms due to mass effect. Read More

Cancer Metastasis Rev 2019 09;38(3):525-535

Division of Surgical Oncology, Department of Surgery, UC San Diego Moores Cancer Center, University of California, San Diego, La Jolla, CA, USA.

Gastrointestinal stromal tumors (GISTs) are increasingly recognized as having diverse biology. With the development of tyrosine kinase inhibitors molecularly matched to oncogenic KIT and PDGFRA mutations, GISTs have become a quintessential model for precision oncology. However, about 5-10% of GIST lack these driver mutations and are deficient in succinate dehydrogenase (SDH), an enzyme that converts succinate to fumarate. Read More

Cardiovasc Pathol 2020 Jan - Feb;44:107163. Epub 2019 Oct 25.

Department of Health Sciences, University "Magna Græcia" of Catanzaro, Catanzaro, Italy.

In cardiac myxomas, the malignant transformation process, selecting incidental gene mutations and leading to loss of proliferation control, has not a so drastic effects in terms of growth rate of tumor mass, but frequently the particular location of lesion engrosses the high risk for health. For accurate cancer cell profiling, it is important to establish the embryologic origin of malignant cells and their initial commitments, above all, in the sight of therapeutic strategies and solutions. Here, we advance, for cardiac myxoma, the hypothesis of an origin from cardiac neural crest cells and we attempt to support it by an integrated discussion of current knowledge about embryological characteristics of neural crest cells and most recent studies focusing cardiac myxomas. Read More

eNeuro 2019 Nov/Dec;6(6). Epub 2019 Dec 4.

Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912

Christianson syndrome (CS) is an X-linked neurogenetic disorder resulting from loss-of-function (LoF) mutations in , which encodes the endosomal Na/H exchanger 6 (NHE6). NHE6 regulates proton efflux from endosomes and, thus, participates in regulating cargo processing and trafficking. LoF mutations in NHE6 cause aberrant acidification of endosomes. Read More

Mol Brain 2019 10 21;12(1):81. Epub 2019 Oct 21.

Department of Biological Sciences, College of Life Sciences and Agriculture, University of New Hampshire, 46 College Road, Durham, NH, 03824, USA.

Presynaptic Ca2.2 channels control calcium entry that triggers neurotransmitter release at both central and peripheral synapses. The Cacna1b gene encodes the α1-pore forming subunit of Ca2. Read More

Pituitary 2019 Dec;22(6):620-632

Department of Neurosurgery, Military Institute of Medicine, Warsaw, Poland.

Purpose: To explore the incidence of double pituitary adenomas in a tertiary center for pituitary surgery and asses their clinical, imaging and histopathological features.

Methods: The medical records of the patients operated on for pituitary tumors at the Department of Neurosurgery of Military Institute of Medicine in Warsaw, Poland between the years 2003 and 2018 were retrospectively analyzed. Among the 3270 treated patients, the diagnosis of double pituitary adenoma was established in 22 patients. Read More