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Am J Case Rep 2019 Feb 17;20:207-211. Epub 2019 Feb 17.

Department of Endocrinology, University of California San Francisco, San Francisco, CA, USA.

BACKGROUND Pituitary gland metastasis is rarely the initial presentation of metastatic cancer. Most cases of pituitary gland metastasis are asymptomatic with diabetes insipidus being the most common symptomatic presentation. It can rarely present with symptoms of hormone underproduction such as secondary adrenal insufficiency. Read More

Oper Neurosurg (Hagerstown) 2019 Feb 15. Epub 2019 Feb 15.

Division of Neurosurgery, Toronto Western Hospital, University Health Network and Department of Surgery, University of Toronto, Toronto, Canada.

Background: The role of expanded endonasal endoscopic surgery for primary and recurrent craniopharyngioma is not yet fully established.

Objective: To report and evaluate our experience with the endoscopic endonasal approach (EEA) for the resection of primary and recurrent craniopharyngiomas.

Methods: This is a retrospective cohort analysis of 43 consecutive EEA procedures in 40 patients operated from September 2006 to February 2012 for suprasellar craniopharyngiomas. Read More

Intensive Care Med 2019 Feb 11. Epub 2019 Feb 11.

Neuro-Intensive Care, Department of Emergency and Intensive Care, San Gerardo Hospital, ASST, Monza, Italy.

Purpose: To provide a practical overview of the management of the potential organ donor in the intensive care unit.

Methods: Seven areas of donor management were considered for this review: hemodynamic management; fluids and electrolytes; respiratory management; endocrine management; temperature management; anaemia and coagulation; infection management. For each subchapter, a narrative review was conducted. Read More

Endocrinol Diabetes Metab Case Rep 2019 Feb 7;2019. Epub 2019 Feb 7.

A 29-year-old G4A3 woman presented at 25 weeks of pregnancy with progressive signs of Cushing's syndrome (CS), gestational diabetes requiring insulin and hypertension. A 3.4 × 3. Read More

Endocrinol Diabetes Metab Case Rep 2019 Feb 7;2019. Epub 2019 Feb 7.

Department of Endocrinology, Diabetes and Metabolism.

Intracranial germinomas are rare tumors affecting mostly patients at young age. Therefore, molecular data on its etiopathogenesis are scarce. We present a clinical case of a male patient of 25 years with an intracranial germinoma and a 16p11. Read More

Clin J Am Soc Nephrol 2019 Feb 6. Epub 2019 Feb 6.

Division of Nephrology and Hypertension, Department of Medicine, Mayo Clinic School of Medicine, Rochester, Minnesota

Zh Vopr Neirokhir Im N N Burdenko 2018 ;82(6):105-113

Burdenko Neurosurgical Institute, Moscow, Russia.

The use of endoscopic technique has significantly extended the indications for surgery using the transsphenoidal approach. Currently, more than 90% of pituitary adenomas are operated on transsphenoidally. Transnasal removal of giant pituitary adenomas has become possible. Read More

Prog Mol Biol Transl Sci 2019 30;161:181-210. Epub 2018 Oct 30.

Department of Anatomy, Physiology, and Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, AL, United States. Electronic address:

As one of the largest families of cell membrane proteins, G protein-coupled receptors (GPCRs) are involved in regulating almost all physiological processes by transducing extracellular signals into the cytoplasm. Since the first discovery of naturally occurring mutations in Rhodopsin gene in 1990, hundreds of loss-of-function mutations in multiple GPCRs have been identified to be pathogenic for more than 30 diverse human diseases, making these defective receptors important drug targets for personalized medicine. In this review, we aim to elucidate the etiologies of five common inherited diseases caused by six of the most extensively studied GPCRs. Read More

BMJ Case Rep 2019 Jan 31;12(1). Epub 2019 Jan 31.

Fundación Cardioinfantil Instituto de Cardiologia, Bogotá, Colombia.

Adipsic diabetes insipidus is an infrequent disease which may be associated with craniopharyngioma. It may be secondary to the tumour's extension, as well as to resection of the mass. We present the case of a 24-year-old woman with a history of delayed puberty and hypothyroidism, but no prior study reports. Read More

Blood Cells Mol Dis 2019 Jan 24. Epub 2019 Jan 24.

Department of Medicine, Knappschaftskrankenhaus, Ruhr-University Bochum, Germany.

While acute myeloid leukemia (AML) is the most common type of acute leukemia in adulthood, the constellation of AML associated with central diabetes insipidus (CDI) is rare and typically occurs in patients with chromosome 3 or 7 abnormalities. This subgroup of AML is associated with a poor clinical outcome. In this report, we present a young woman with AML and concurrent CDI in the presence of inversion(3)(q21q26). Read More

J Neurol Surg A Cent Eur Neurosurg 2019 Feb 1. Epub 2019 Feb 1.

Department of Neurosurgery, Tohoku University Graduate School of Medicine, Sendai, Japan.

Background:  Intracranial chondromas are extremely rare and represent only 0.2% of all intracranial primary neoplasms. The histologic appearance lacks nuclear atypism and mitoses, and it usually shows low growth potential, although these benign features do not necessarily imply a good prognosis. Read More

J Neurol Surg A Cent Eur Neurosurg 2019 Feb 1. Epub 2019 Feb 1.

Division of Neurosurgery, Department of Surgery, King Saud University, Riyadh, Riyadh Province, Saudi Arabia.

Background:  Intracranial teratomas are rare tumors that usually present during the second decade of life. Among intracranial teratomas, suprasellar germ cell tumors in particular are extremely rare. We present the case of an 18-year-old girl who underwent a successful endoscopic transnasal resection of a suprasellar teratoma with a mixed germ cell component. Read More

Front Endocrinol (Lausanne) 2018 17;9:814. Epub 2019 Jan 17.

6th Department of Medical Sciences, Department of Endocrinology, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.

Metabolomics-the novel science that evaluates the multitude of low-molecular-weight metabolites in a biological system, provides new data on pathogenic mechanisms of diseases, including endocrine tumors. Although development of metabolomic profiling in pituitary disorders is at an early stage, it seems to be a promising approach in the near future in identifying specific disease biomarkers and understanding cellular signaling networks. To review the metabolomic profile and the contributions of metabolomics in pituitary adenomas (PA). Read More

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Feb;36(2):140-142

Jing'an District Central Hospital Affiliated to Fudan University, Shanghai 200040, China.

Objective: To explore the genetic basis for pedigree affected with hereditary nephrogenic diabetes insipidus (HNDI).

Methods: Next generation sequencing (NGS) with an osteology system gene panel was carried out for the proband. Suspected mutation was validated by Sanger sequencing of two relatives with similar symptoms and two unaffected relatives from the pedigree. Read More

J Pain Palliat Care Pharmacother 2019 Jan 31:1-5. Epub 2019 Jan 31.

The authors report a case of diabetes insipidus (DI) associated with a ketamine infusion. A 42-year-old Asian man underwent an exploratory laparotomy and splenectomy who was admitted to the surgical intensive care unit (ICU) for postoperative management. Pain control was attempted with escalating dose of opioids but was inadequate, prompting the addition of a ketamine infusion. Read More

Endocr J 2019 Jan 29. Epub 2019 Jan 29.

Department of Metabolic Medicine, Faculty of Life Sciences, Kumamoto University, Kumamoto 860-8556, Japan.

Although hyperemesis gravidarum (HG), an extreme form of morning sickness, is a common complication during pregnancy, HG associated simultaneous onset of rhabdomyolysis and diabetes insipidus due to electrolyte abnormalities are rare. A 34-year-old woman with severe HG at 17 weeks of gestation complicated with appetite loss, weight reduction by 17 kg, general fatigue, myalgia, weakness and polyuria was identified to have simultaneous hypophosphatemia (1.6 mg/dL) and hypokalemia (2. Read More

J Pediatr Endocrinol Metab 2019 Feb;32(2):127-133

Department of Endocrinology, Beijing Tiantan Hospital, Capital Medical University, Beijing 100070, P.R. China, Phone: +13661307913.

Objective To compare the effects of mass effects in situ (MEIS) and after neurosurgery (ANS) on neuroendocrine function in children with craniopharyngioma. Methods We retrospectively investigated 185 cases of children with craniopharyngioma who underwent neurosurgical treatment at the Beijing Tiantan Hospital from 2011 to 2016. The neuroendocrine function of patients was compared before and after tumor removal. Read More

Clin Diabetes Endocrinol 2019 22;5. Epub 2019 Jan 22.

1Division of Metabolism, Endocrinology & Diabetes, Department of Internal Medicine, University of Michigan, 24 Frank Lloyd Wright Drive, Ann Arbor, MI 48106 USA.

Background: Since 2011 six immune checkpoint inhibitors (ICI) have been approved to treat patients with many advanced solid tumor and hematological malignancies to improve their prognosis. Case reports of their endocrine immune-related adverse events [irAEs]) are increasingly published as more real-world patients with these malignancies are treated with these drugs. They alert physicians of a drug's AEs (which may change during a drug's life cycle) and contribute to post-marketing safety surveillance. Read More

CNS Neurosci Ther 2019 Jan 24. Epub 2019 Jan 24.

Department of Neurosurgery, Nanfang Hospital, Southern Medical University, Guangzhou, China.

Aims: Central diabetes insipidus (CDI), a typical complication caused by pituitary stalk injury, often occurs after surgery, trauma, or tumor compression around hypothalamic structures such as the pituitary stalk and optic chiasma. CDI is linked to decreased arginine vasopressin (AVP) neurons in the hypothalamic supraoptic nucleus and paraventricular nucleus, along with a deficit in circulating AVP and oxytocin. However, little has been elucidated about the changes in AVP neurons in CDI. Read More

J Pediatr Hematol Oncol 2019 Jan 22. Epub 2019 Jan 22.

Division of Haematology/Oncology.

Low-grade gliomas (LGG) represent the most common form of primary central nervous system tumor arising in childhood. There is growing evidence to support the role of the mitogen-activated protein kinase pathway in driving tumor growth and MEK inhibitors are being investigated in clinical trials for refractory and unresectable LGGs. As MEK inhibitors progress through clinical trials, drug toxicities have been identified. Read More

World Neurosurg 2019 Jan 17. Epub 2019 Jan 17.

Department of Neurosurgery, School of Medicine, Ankara University, Ibn-i Sina Hospital, Ankara, Turkey.

Objective: The supraorbital keyhole approach through an eyebrow incision has been a potentially less invasive approach as an alternative to the standard pterional craniotomy. We aimed to review procedures for anterior and middle cranial fossa lesions and identify lessons learned from addressing various pathologies through this approach.

Methods: We retrospectively reviewed 106 consecutive patients who underwent this approach. Read More

Nephrol Ther 2019 Jan 15. Epub 2019 Jan 15.

Service de néphrologie adulte, hôpital Necker, université Paris Descartes, 149, rue de Sèvres, 75015 Paris, France. Electronic address:

Besides its efficiency, lithium has a narrow therapeutic index and can result in considerable toxicity. Among the potential side effects, two types of renal toxicity are observed: a decreased renal concentrating ability and a chronic renal failure. Lithium-induced polyuria is frequent, estimated to affect up to 40% of patients, and develops usually early. Read More

Pituitary 2019 Jan 17. Epub 2019 Jan 17.

Division of Endocrinology, Diabetes, and Metabolism, Department of Medicine, University of Illinois at Chicago, 1819 West Polk Street, Chicago, IL, 60612, USA.

Purpose: Oxytocin is a hypothalamus derived, posterior pituitary stored nonapeptide which has gained recent interest as an important neuropsychiatric and metabolic hormone beyond its classic role in lactation and parturition. Hypopituitarism is a heterogenous disorder of derangement in one or more anterior or posterior pituitary hormones. Diagnosis of deficiency and hormone replacement exists to address all relevant axes except for oxytocin. Read More

Int J Mol Sci 2019 Jan 16;20(2). Epub 2019 Jan 16.

State Key Laboratory of Natural and Biomimetic Drugs, Department of Pharmacology, School of Basic Medical Sciences, Peking University, Beijing 100038, China.

Aquaporins (AQPs) are a family of highly selective transmembrane channels that mainly transport water across the cell and some facilitate low-molecular-weight solutes. Eight AQPs, including AQP1, AQP2, AQP3, AQP4, AQP5, AQP6, AQP7, and AQP11, are expressed in different segments and various cells in the kidney to maintain normal urine concentration function. AQP2 is critical in regulating urine concentrating ability. Read More

Exp Ther Med 2019 Jan 12;17(1):51-56. Epub 2018 Nov 12.

Department of Endocrinology, Beijing Tiantan Hospital, Capital Medical University, Beijing 100050, P.R. China.

Craniopharyngiomas (CPs) are rare epithelial tumors mainly located in the sellar/parasellar region. They may be classified into two major histological subtypes, which exhibit clinical and pathological differences: Adamantinomatous CP (ACP) and papillary CP (PCP). The aim of the present study was to compare the neuroendocrine dysfunction between ACP and PCP prior to and after surgical resection. Read More

Rev Colomb Psiquiatr 2019 Jan - Mar;48(1):35-43. Epub 2017 Feb 22.

Hospital Psiquiátrico de Tampico, Secretaría de Salud, Tamaulipas, México.

The prescribing of Lithium is common in psychiatric clinical practice. The aim of this study was to identify the most common endocrine side effects associated with this drug and to clarify the pathophysiological basis. A systematic review was conducted in Psycinfo, Embase, PubMed, and Scopus. Read More

Case Rep Endocrinol 2018 17;2018:1746917. Epub 2018 Dec 17.

Section of Medicine, Endocrinology, Department of Diabetes and Metabolism, San Juan City Hospital, San Juan, Puerto Rico, USA.

We report the case of a 34-year-old male Hispanic patient who presented with an 8-month history of polyuria and decreased libido. An evaluation revealed hypopituitarism, central diabetes insipidus, and a pituitary stalk lesion. No evidence of a neoplasm or an inflammatory/infiltrative disease was found. Read More

Best Pract Res Clin Obstet Gynaecol 2018 Dec 4. Epub 2018 Dec 4.

Division of Nephrology, Department of Medicine, Faculty of Medicine and Health Sciences, University of Sherbrooke, 3001, 12th Avenue North, Sherbrooke, QC, Canada. Electronic address:

The majority of women are healthy entering pregnancy and do not require measurement of renal function or serum electrolytes. Clinicians must remain alert to the possibility of renal as well as fluid and electrolyte disorders in pregnancy, as the presenting complaints are often vague and mistaken for the normal physiology of pregnancy. In this chapter, our objectives are 1) to review the renal physiology from a practical/clinical standpoint; 2) to provide the clinical obstetrician a case-based approach to fluid and electrolyte disorders commonly encountered in pregnancy; 3) to consolidate knowledge on renal physiology and fluid and electrolyte disorders in pregnancy with MCQs that are directly aligned with content; and 4) to highlight key practice points and present a research agenda. Read More

Pituitary 2019 Jan 14. Epub 2019 Jan 14.

Department of Endocrinology and Metabolism, Yeditepe University Medical School, Istanbul, Turkey.

Introduction: The prevalence of pituitary dysfunction is high following aneurysmal subarachnoid hemorrhage (aSAH) and when occurs it may contribute to residual symptoms of aSAH such as decreased cognition and quality of life. Hypopituitarism following aSAH may have non-specific, subtle symptoms and potentially serious consequences if remained undiagnosed.

Methods: We reviewed the literature on epidemiology, pathophysiology, diagnostic methods and management of neuroendocrine changes after aSAH as well as on the impact of pituitary dysfunction on outcome of the patient. Read More

Medicine (Baltimore) 2019 Jan;98(2):e13853

Department of Endocrinology and Metabolism.

Rationale: Langerhans cell histiocytosis (LCH) is characterized by clonal proliferation of immature dendritic cells, mainly affects children. LCH in adult sellar region is extremely rare. In literature, optimal treatments remain unclear and only a few cases of LCH were treated using surgery. Read More

Arch Endocrinol Metab 2018 ;62(6):648-654

Instituto de Investigaciones Neurológicas "Dr. Raúl Carrea", FLENI, Pathology, Buenos Aires, Argentina.

Chordoid glioma (CG) is considered a slow growing glial neoplasm. We report two new cases with endocrinological presentation, management and outcome. Case reports: 1) An 18 year-old female patient was admitted due to headaches, nausea and vomiting and visual abnormalities. Read More

Am J Physiol Renal Physiol 2019 Jan 9. Epub 2019 Jan 9.

Internal Medicine, University of Cincinnati, United States.

Chronic adenine feeding is extensively used to develop animal models of chronic renal failure with metabolic features resembling those observed in humans. However, the mechanism by which adenine induces renal failure is poorly understood. In this study, we examined the early effects of adenine on water metabolism and salt balance in rats placed in metabolic cages and fed control or adenine-containing diets for 7 days. Read More

Front Physiol 2018 17;9:1765. Epub 2018 Dec 17.

Nephrology Research, Department of Veterans Affairs Salt Lake City Health Care System, Salt Lake City, UT, United States.

Chronic lithium administration for the treatment of bipolar disorder leads to nephrogenic diabetes insipidus (NDI), characterized by polyuria, natriuresis, kaliuresis, and collecting duct remodeling and cell proliferation among other features. Previously, using a 2-week lithium-induced NDI model, we reported that P2Y receptor (R) knockout mice are significantly resistant to polyuria, natriuresis, kaliuresis, and decrease in AQP2 protein abundance in the kidney relative to wild type mice. Here we show this protection is long-lasting, and is also associated with significant amelioration of lithium-induced collecting duct remodeling and cell proliferation. Read More

World Neurosurg 2019 Jan 3. Epub 2019 Jan 3.

Department of Neurosurgery, First Affiliated Hospital, Chongqing Medical University, Yuzhong District, Chongqing, P.R. China. Electronic address:

Objective: To report our experience of the management of 60 patients with craniopharyngioma with endoscopic endonasal surgery (EES) and evaluate the feasibility and safety of EES for craniopharyngiomas.

Methods: The clinical data of 60 patients with craniopharyngioma who underwent EES between November 2014 and December 2017 were analyzed retrospectively. All patients had vascularized nasoseptal flaps, and the most recent 4 patients had "in situ bone flaps" for better skull base reconstruction. Read More

Endocrinol Diabetes Metab Case Rep 2018 Dec 28;2018. Epub 2018 Dec 28.

Division of Rheumatology, Department of Pediatrics.

IgG4-related hypophysitis is an important diagnostic consideration in patients with a pituitary mass or pituitary dysfunction and can initially present with headaches, visual field deficits and/or endocrine dysfunction. Isolated IgG4-related pituitary disease is rare, with most cases of IgG4-related disease involving additional organ systems. We report the case of a teenage female patient with isolated IgG4-related hypophysitis, diagnosed after initially presenting with headaches. Read More

Endocr Connect 2018 Dec;7(12):1501-1506

Departments of Endocrinology, Diabetology and Metabolism, University Hospital Basel, Basel, Switzerland.

The pathomechanism of primary polydipsia is poorly understood. Recent animal data reported a connection between fibroblast growth factor 21 (FGF-21) and elevated fluid intake independently of hormonal control by the hormone arginine-vasopressin (AVP) and osmotic stimulation. We therefore compared circulating FGF-21 levels in patients with primary polydipsia to patients with AVP deficiency (central diabetes insipidus) and healthy volunteers. Read More

Indian J Psychiatry 2018 Oct-Dec;60(4):504-506

Department of Psychiatry, NIMHANS, Bengaluru, Karnataka, India.

Polydipsia has always been an intriguing entity in clinical psychiatry, since long. Other than being commonly associated with patients of chronic schizophrenia, as described in past, it can also mimic and present in other psychiatric disorders; and thus may be elusive for diagnosis and treatment. Here we describe a patient having polydipsia with prominent obsessive compulsive symptoms, which, after detailed investigations, was found to be secondary to herpes encephalitis. Read More

Fetal Pediatr Pathol 2018 Dec 22:1-5. Epub 2018 Dec 22.

a Neonatology , University of Health Sciences, Dr Sami Ulus Maternity and Children Health and Research Application Center , Ankara , Türkiye.

Background: Central diabetes is an infrequent complication reported in the neonatal period.

Case Report: CDI as a complication of Streptococcus pneumoniae (S. pneumoniae) sepsis and meningitis in a 9-day-old boy is presented. Read More

Neth J Med 2018 Dec;76(10):445-449

Department of Internal Medicine, Maastricht University Medical Centre, the Netherlands.

Langerhans cell histiocytosis (LCH) is a rare disorder, characterised by a monoclonal proliferation of aberrant histiocytes that accumulate in and infiltrate into different organs. When the hypothalamic-pituitary axis is involved, central diabetes insipidus (CDI) can be its first manifestation. Three cases of LCH with central diabetes insipidus were retrospectively analyzed: Case 1 is a 41-year old female presenting with polyuria and polydipsia. Read More

Klin Onkol 2018 ;31(5):371-375

Background: Brain metastases are one of the main causes of morbidity and mortality of patients with oncological disease. In non-small cell lung carcinoma (NSCLC), the risk of CNS secondary development is 30-50%. An unusual diagnostic and therapeutic problem is the finding of suspicious pituitary lesions. Read More

Surg Neurol Int 2018 2;9:226. Epub 2018 Nov 2.

Department of Neurosurgery, Ehime University School of Medicine, 454 Shitsukawa, Toon, Ehime 791-0295, Japan.

Background: Chordoid glioma of the third ventricle is a rare neuroepithelial tumor characterized by a unique histomorphology within the third ventricular region, but with radiological and histopathological features mimicking benign lesions such as meningioma. We report a case of chordoid glioma of the third ventricle and suggest a useful indicator for accurate diagnosis.

Case Description: A previously healthy 46-year-old woman was admitted to our hospital with mild headache. Read More

J Neonatal Perinatal Med 2018 Dec 1. Epub 2018 Dec 1.

Department of Pediatrics, Tulane University Health Sciences Center, New Orleans, LA, USA.

A 710 g male infant was born at a referring hospital at a gestational age of 23 weeks and 2 days via vaginal delivery and was transferred to our facility at 14 days of age. His delivery was complicated by the breech presentation with difficult head extraction. The infant's initial course was significant for respiratory distress syndrome, grade III-IV intraventricular hemorrhage (IVH), acute kidney injury, and large PDA. Read More

Dtsch Med Wochenschr 2018 Dec 3;143(24):1739-1744. Epub 2018 Dec 3.

Medizinische Klinik III, Klinik für Endokrinologie und Nephrologie, Universitätsklinikum Leipzig.

2018 brings new insights into the differential diagnosis of patients with hypotonic polyuria syndrome. Exact localization of the antidiuretic defect in patients with hypotonic polyuria can be challenging, especially the distinction of primary polydipsia from partial pituitary or renal forms of diabetes insipidus. However, diagnostic precision is vital since therapeutic management differs substantially and false treatment may result in serious consequences. Read More

Ophthalmic Genet 2018 Dec 3:1-5. Epub 2018 Dec 3.

b Cole Eye Institute , Cleveland Clinic , Cleveland , OH , USA.

Purpose: Wolfram syndrome is characterized by early onset diabetes mellitus, diabetes insipidus, deafness, and optic atrophy, but retinal degeneration has not been described as a major component of the phenotype. We present two cases with Wolfram syndrome and evidence of retinal degeneration.

Materials And Methods: Observational case series. Read More

Clin Endocrinol (Oxf) 2019 Feb 17;90(2):257-264. Epub 2018 Dec 17.

Schools of Medicine (RB, DAR) and Psychology (KLD), Neuroscience and Mental Health Research Institute, Cardiff University, Cardiff, UK.

Patients with hypopituitarism display impaired quality of life and excess morbidity and mortality, despite apparently optimal pituitary hormone replacement. Oxytocin is a neuropeptide synthesized in the anterior hypothalamus which plays an important role in controlling social and emotional behaviour, body weight and metabolism. Recent studies have suggested that a deficiency of oxytocin may be evident in patients with hypopituitarism and craniopharyngioma, and that this may be associated with deficits in cognitive empathy. Read More

Rev Soc Bras Med Trop 2018 Nov-Dec;51(6):865-867

Fundação de Medicina Tropical Dr. Heitor Vieira Dourado, Manaus, AM, Brasil.

The involvement of Mycobacterium tuberculosis in the central nervous system (CNS) is an uncommon and devastating manifestation of tuberculosis. We report a case of disseminated tuberculosis presenting as meningoencephalitis, hypothalamic involvement with extension to the hypophysis, and secondary insipidus diabetes diagnosed at autopsy. Read More

Arq Bras Cardiol 2018 Dec;111(6):852-855

Instituto do Câncer do Estado de São Paulo, São Paulo, SP - Brazil.

Erdheim-Chester Disease is a rare entity, classified as an inflammatory myeloid neoplasm, with an unknown incidence, occurring preferentially in men after 50 years of age. Classically, it has a multisystemic presentation, with the skeletal system being the most frequently affected (90% of the patients), followed by genitourinary involvement in 60% of cases and central nervous system in the pituitary and diabetes insipidus in 25% of the cases. Cardiovascular manifestations are present in more than half of the patients, with aortic infiltration and atrial pseudotumor being the most common forms. Read More

Hormones (Athens) 2018 Dec 4;17(4):551-556. Epub 2018 Dec 4.

Endocrinology, Department of Translational Medicine, Università del Piemonte Orientale, Via Solaroli 17, 28100, Novara, Italy.

Objective: To evaluate early results of transsphenoidal surgery for pituitary adenomas.

Design: Retrospective evaluation of 90 consecutive patients undergoing endoscopic pituitary adenoma surgery (2007-2016) at "Maggiore della Carità" Hospital in Novara, Italy. Age at diagnosis, sex, symptoms at presentation, hormonal and radiological data, complications of surgery, and short-term follow-up information were collected. Read More

J Am Soc Nephrol 2019 Jan 4;30(1):110-126. Epub 2018 Dec 4.

Pediatrics and Rare Diseases Group and

Background: Notch signaling is required during kidney development for nephron formation and principal cell fate selection within the collecting ducts. Whether Notch signaling is required in the adult kidney to maintain epithelial diversity, or whether its loss can trigger principal cell transdifferentiation (which could explain acquired diabetes insipidus in patients receiving lithium) is unclear.

Methods: To investigate whether loss of Notch signaling can trigger principal cells to lose their identity, we genetically inactivated and , inactivated the Notch signaling target , or induced expression of a Notch signaling inhibitor in all of the nephron segments and collecting ducts in mice after kidney development. Read More