Dynamic spectral signatures of mirror movements in the sensorimotor functional connectivity network of patients with Kallmann syndrome.

In Kallmann syndrome (KS), the peculiar phenomenon of bimanual synkinesis or mirror movement (MM) has been associated with a spectral shift, from lower to higher frequencies, of the resting-state fMRI signal of the large-scale sensorimotor brain network (SMN). To possibly determine whether a similar frequency specificity exists across different functional connectivity SMN states, and to capture spontaneous transitions between them, we investigated the dynamic spectral changes of the SMN functional connectivity in KS patients with and without MM symptom. Brain MRI data were acquired at 3 Tesla in 39 KS patients (32 without MM, KSMM-, seven with MM, KSMM+) and 26 age- and sex-matched healthy control (HC) individuals.

DAAM1 and PREP are involved in human spermatogenesis.

During differentiation of the male gamete, there is a massive remodelling in the shape and architecture of all the cells in the seminiferous epithelium. The cytoskeleton, as well as many associated proteins, plays a pivotal role in this process. To better characterise the factors involved, we analysed two proteins: the formin, dishevelled-associated activator of morphogenesis 1 (DAAM1), which participates in the regulation of actin polymerisation, and the protease, prolyl endopeptidase (PREP), engaged in microtubule-associated processes.

Spectral signatures of mirror movements in the sensori-motor connectivity in kallmann syndrome.

Mirror movements (MM) might be observed in congenital and acquired neurodegenerative conditions but their anatomic-functional underpinnings are still largely elusive. This study investigated the spectral changes of resting-state functional connectivity in Kallmann Syndrome (hypogonadotropic hypogonadism with hypo/anosmia with or without congenital MM) searching for insights into the phenomenon of MM. Forty-four Kallmann syndrome patients (21 with MM) and 24 healthy control subjects underwent task (finger tapping) and resting-state functional MRI.

Role of prophylactic central compartment lymph node dissection in clinically N0 differentiated thyroid cancer patients: analysis of risk factors and review of modern trends.

In the last years, especially thanks to a large diffusion of ultrasound-guided FNBs, a surprising increased incidence of differentiated thyroid cancer (DTC), "small" tumors and microcarcinomas have been reported in the international series. This led endocrinologists and surgeons to search for "tailored" and "less aggressive" therapeutic protocols avoiding risky morbidity and useless "overtreatment". Considering the most recent guidelines of referral endocrine societies, we analyzed the role of routine or so-called prophylactic central compartment lymph node dissection (RCLD), also considering its benefits and risks.

Histone Deacetylase Inhibitors Increase p27(Kip1) by Affecting Its Ubiquitin-Dependent Degradation through Skp2 Downregulation.

Histone deacetylase inhibitors (HDACIs) represent an intriguing class of pharmacologically active compounds. Currently, some HDACIs are FDA approved for cancer therapy and many others are in clinical trials, showing important clinical activities at well tolerated doses. HDACIs also interfere with the aging process and are involved in the control of inflammation and oxidative stress.

Prostate cancer stem cells: the role of androgen and estrogen receptors.

Prostate cancer is one of the most commonly diagnosed cancers in men, and androgen deprivation therapy still represents the primary treatment for prostate cancer patients. This approach, however, frequently fails and patients develop castration-resistant prostate cancer, which is almost untreatable.Cancer cells are characterized by a hierarchical organization, and stem/progenitor cells are endowed with tumor-initiating activity.

Flavor perception test: evaluation in patients with Kallmann syndrome.

In Kallmann syndrome (KS), congenital hypogonadism is associated with olfactory impairment. To evaluate flavor perception-related disability in KS patients, 30 patients with KS, 12 with normosmic hypogonadism (nIHH), 24 with acquired anosmia (AA), and 58 healthy controls entered the study. All participants completed questionnaires concerning dietary habits, olfaction-related quality of life (QoL), and self-determined olfactory, flavor, and taste abilities prior to undergoing standardized olfactometry and gustometry.

Bone involvement in males with Kallmann disease.

Background: Kallmann syndrome (KS) is a rare genetic condition characterized by congenital early-onset hypogonadotropic hypogonadism and anosmia or hyposmia. Male subjects are more frequently affected and present absent/delayed puberty, low testosterone levels with higher risk for osteoporosis. Therefore, to maintain normal levels of sex steroids and prevent bone loss, male KS needs life-long hormonal replacement therapy (HRT).

Sniffin' Sticks and olfactory system imaging in patients with Kallmann syndrome.

Background: The relationship between olfactory function, rhinencephalon and forebrain changes in Kallmann syndrome (KS) have not been adequately investigated. We evaluated a large cohort of male KS patients using Sniffin' Sticks and MRI in order to study olfactory bulb (OB) volume, olfactory sulcus (OS) depth, cortical thickness close to the OS, and olfactory phenotype.

Methods: Olfaction was assessed administering Sniffin' Sticks®, in 38 KS patients and 17 controls (by means of Screening 12 test®).

Long-term outcomes of laparoscopic adrenalectomy for Cushing disease.

Introduction: In the surgical management of the patients with Cushing syndrome (CS), minimal invasive adrenalectomy (MA) has become the procedure of choice to treat adrenal tumors with a benign appearance ≤6 cm in diameter. Authors evaluated medium- and long-term outcomes of laparoscopic adrenalectomy (LA) for CS or subclinical CS (sCS), performed for ten years in an endocrine surgery unit.

Methods: We retrospectively reviewed 21 consecutive patients undergone LA for CS or sCS from 2003 to 2013.

Current concepts of pheochromocytoma.

Pheochromocytoma (PCC), a rare neuroendocrine tumor, shows a prevalence ranging between 0.1% and 0.6% in individuals suffering from hypertension.

The role of surgery in the current management of differentiated thyroid cancer.

In the last decades, a surprising increased incidence of differentiated thyroid cancer (DTC), along with a precocious diagnosis of "small" tumors and microcarcinomas have been observed. In these cases, better oncological outcomes are expected, and a "tailored" and "less aggressive" multimodal therapeutic protocol should be considered, avoiding an unfavorable even if minimal morbidity following an "overtreatment." In order to better define the most suitable surgical approach, its benefits and risks, we discuss the role of surgery in the current management of DTCs in the light of data appeared in the literature.

Germline prokineticin receptor 2 (PROKR2) variants associated with central hypogonadism cause differental modulation of distinct intracellular pathways.

Introduction: Defects of prokineticin pathway affect the neuroendocrine control of reproduction, but their role in the pathogenesis of central hypogonadism remains undefined, and the functional impact of the missense PROKR2 variants has been incompletely characterized.

Material And Methods: In a series of 246 idiopathic central hypogonadism patients, we found three novel (p.V158I, p.

Role of preoperative adrenergic blockade with doxazosin on hemodynamic control during the surgical treatment of pheochromocytoma: a retrospective study of 48 cases.

Authors evaluated the effects of selective adrenergic blockade by means of doxazosin on blood pressure in 48 patients operated on for pheochromocytoma by a multicenter retrospective study. Age, tumor size, surgical approach, and operative time were analyzed as predictive factors of intraoperative hypertensive crises. Forty-eight patients underwent adrenalectomy--four open surgery and 44 laparoscopic surgery--for pheochromocytoma of adrenal glands from 1998 to 2008 after preoperative administration of doxazosin.

Total thyroidectomy, without prophylactic central lymph node dissection, in the treatment of differentiated thyroid cancer. Clinical retrospective study on 221 cases.

Total thyroidectomy (TT) is the standard of care for differentiated thyroid cancer (DTC), but still there is no consensus about the role of routine use of prophylactic central lymph node dissection. The aim of this study was to analyze our results of TT without prophylactic central lymphadenectomy in the treatment of DTC. Clinical records, between January 1998 and December 2005, of 221 patients undergoing TT, without prophylactic central lymph node dissection, were retrospectively evaluated.

Late primary autoimmune hypothyroidism in a patient with postdelivery autoimmune hypopituitarism associated with antibodies to growth hormone and prolactin-secreting cells.

Background: Pituitary and thyroid autoimmunity can be triggered by pregnancy. We report the first association of combined growth hormone (GH) and prolactin secretion deficiency due to autoimmune damage to GH- and prolactin-secreting cells in a patient with postdelivery lactation failure, presenting subsequently with primary autoimmune hypothyroidism.

Patient Findings: A 34-year-old woman presented with lactation failure following the delivery of her first child.

Laparoscopic adrenalectomy, a safe procedure for pheochromocytoma. A retrospective review of clinical series.

Background: Minimally invasive adrenalectomy for pheochromocytoma (PCC) is a complex surgical procedure especially because of the haemodynamic instability due to the excessive secretion of cathecolamines, which may result in a considerable risk of conversion and complications.

Aim: By a multicentric retrospective study, the authors reported the results of laparoscopic adrenalectomies in patients operated for adrenal pheochromocytomas with the aim of investigating the role of the laparoscopic approach in managing adrenal disease.

Methods: Sixty patients, preoperatively treated with a selective alpha1-blocker, underwent 61 laparoscopic adrenalectomies for PCC smaller or larger than 6 cm - group A (≤6 cm), group B (>6 cm).

Time course of Graves' ophthalmopathy after total thyroidectomy alone or followed by radioiodine therapy: a 2-year longitudinal study.

The findings in hyperthyroid patients with Graves' orbitopathy (GO) of antibodies against antigens shared between the thyroid and orbit, such as the TSH-receptor (TRAb) and a novel protein G2s (G2sAb), suggested a possible common therapeutic strategy. However, the gold therapeutic standard for hyperthyrodism in these patients remains still unsettled and is mainly based on personal experience. Studies on the effect of total thyroidectomy (TT) alone or followed by radioiodine ablation (RAI) of thyroid remnants showed often conflicting results.

Estradiol levels in men with congenital hypogonadotropic hypogonadism and the effects of different modalities of hormonal treatment.

Objective: To evaluate the degree of E2 deficiency in male congenital hypogonadotropic hypogonadism (CHH), and its response to different hormonal treatments.

Design: Retrospective and prospective studies.

Setting: Academic institution.

Predictive role of the immunostaining pattern of immunofluorescence and the titers of antipituitary antibodies at presentation for the occurrence of autoimmune hypopituitarism in patients with autoimmune polyendocrine syndromes over a five-year follow-up.

Context: Antipituitary antibodies (APA) are frequently present in patients with autoimmune polyendocrine syndrome (APS).

Design: The aim was to evaluate the predictive value of APA for the occurrence of hypopituitarism. A total of 149 APA-positive and 50 APA-negative patients with APS and normal pituitary function were longitudinally studied for 5 yr.

Anti-pituitary antibodies in children with newly diagnosed celiac disease: a novel finding contributing to linear-growth impairment.

Objectives: The possible autoimmune involvement of the pituitary gland in patients with celiac disease (CD) has been suggested but demonstrated in only a few patients on gluten-free diet. We aimed to assess the prevalence and clinical meaning of anti-pituitary antibodies (APA) in children and adolescents with the newly diagnosed CD.

Methods: A total of 119 patients with CD (0.

Expression of RIZ1 protein (Retinoblastoma-interacting zinc-finger protein 1) in prostate cancer epithelial cells changes with cancer grade progression and is modulated in vitro by DHT and E2.

The nuclear protein methyl-transferase Retinoblastoma-interacting zinc-finger protein 1 (RIZ1) is considered to be a downstream effector of estrogen action in target tissues. Silencing of RIZ1 expression is common in many tumors. We analyzed RIZ1 expression in normal and malignant prostate tissue and evaluated whether estradiol (E2) or dihydrotestosterone (DHT) treatment modulated RIZ1 in cultured prostate epithelial cells (PEC).

Homozygous mutation in the prokineticin-receptor2 gene (Val274Asp) presenting as reversible Kallmann syndrome and persistent oligozoospermia: case report.

Prokineticin 2 (Prok2) or prokineticin-receptor2 (Prok-R2) gene mutations are associated with Kallmann syndrome (KS). We describe a new homozygous mutation of Prok-R2 gene in a man displaying KS with an apparent reversal of hypogonadism. The proband, offspring of consanguineous parents, presented at age 19 years with absent puberty, no sense of smell, low testosterone and gonadotrophin levels.

Antipituitary antibodies after traumatic brain injury: is head trauma-induced pituitary dysfunction associated with autoimmunity?

Objective: Traumatic brain injury (TBI) is a devastating public health problem that may result in hypopituitarism. However, the mechanisms responsible for hypothalamic-pituitary dysfunction due to TBI are still unclear. Although the antibodies against neurons have been demonstrated in injured animal studies, investigations regarding the occurrence of antipituitary antibodies (APAs) in patients with TBI are lacking in the literature.

Immunological and clinical aspects of lymphocytic hypophysitis.

LYH (lymphocytic hypophysitis) is an autoimmune disease of the pituitary gland which can present with varying degrees of pituitary hormonal impairment and/or with symptoms related to pituitary enlargement. In this review, we provide an overview of the epidemiology, diagnosis, pathogenesis, treatment, and the role of organ-specific and antipituitary antibodies as potential markers of LYH. In addition, although the mechanisms underlying LYH are not completely understood, the role of prolactin, which plays an important part in maintaining immune system homoeostasis and is increased in the disease, is considered.