@article {10503, title = {MKRN3 levels in girls with central precocious puberty and correlation with sexual hormone levels: a pilot study.}, journal = {Endocrine}, volume = {59}, year = {2018}, month = {2018 01}, pages = {203-208}, abstract = {

PURPOSE: Recently, mutations of makorin RING-finger protein 3 (MKRN3) have been described in familial central precocious puberty. Serum levels of this protein decline before the pubertal onset in healthy girls and boys. The aim of the study is to investigate MKRN3 circulating levels in patients with central precocious puberty.

METHODS: We performed an observational cross-sectional study. We enrolled 17 patients with central precocious puberty aged 7 years (range: 2-8 years) and breast development onset <8 years; 17 prepubertal control age-matched patients aged 6.3 years (2-8.2); and 10 pubertal stage-matched control patients aged 11.4 years (9-14). Serum values of MKRN3, gonadotropins, (17)estradiol and Anti-M{\"u}llerian Hormone were evaluated and the MKRN3 genotyped in central precocious puberty patients.

RESULTS: No MKRN3 mutation was found among central precocious puberty patients. MKRN3 levels were lower in patients with central precocious puberty compared to prepubertal age-matched ones (p: 0.0004) and comparable to those matched for pubertal stage. MKRN3 levels were inversely correlated to Body Mass Index Standard Deviations (r:-0.35; p:0.02), Luteinizing Hormone (r:-0.35; p:0.03), FSH (r:-0.37; p:0.02), and (17)estradiol (r: -0.36; p:0.02).

CONCLUSIONS: We showed that girls with central precocious puberty had lower peripheral levels of MKRN3 compared to age-matched pairs and that they negatively correlated to gonadotropins, estrogen, and BMI. Our findings support the MKRN3 involvement in central precocious puberty also in absence of deleterious mutations, although our sample size is small. In addition our data suggest the role of MKRN3 in the complex mechanism controlling puberty onset and its interaction with other factors affecting puberty such as nutrition.

}, keywords = {Adolescent, Adolescent Nutritional Physiological Phenomena, Anti-Mullerian Hormone, Case-Control Studies, Child, Child Nutritional Physiological Phenomena, Child, Preschool, Cross-Sectional Studies, Female, Follicle Stimulating Hormone, Gonadotropin-Releasing Hormone, Humans, Luteinizing Hormone, Pilot Projects, Puberty, Precocious, Ribonucleoproteins, Sexual Maturation}, issn = {1559-0100}, doi = {10.1007/s12020-017-1281-x}, author = {Grandone, Anna and Cirillo, Grazia and Sasso, Marcella and Capristo, Carlo and Tornese, Gianluca and Marzuillo, Pierluigi and Luongo, Caterina and Rosaria Umano, Giuseppina and Festa, Adalgisa and Coppola, Ruggero and Miraglia Del Giudice, Emanuele and Perrone, Laura} } @article {10817, title = {MKRN3 Levels in Girls with Central Precocious Puberty during GnRHa Treatment: A Longitudinal Study.}, journal = {Horm Res Paediatr}, volume = {90}, year = {2018}, month = {2018}, pages = {190-195}, abstract = {

BACKGROUND: Recently, mutations of makorin RING finger protein 3 (MKRN3) have been identified in familial central precocious puberty (CPP). Serum levels of this protein decline before the pubertal onset in healthy girls and boys and are lower in patients with CPP compared to prepubertal matched pairs. The aim of our study was to investigate longitudinal changes in circulating MKRN3 levels in patients with CPP before and during GnRH analogs (GnRHa) treatment.

METHODS: We performed a longitudinal prospective study. We enrolled 15 patients with CPP aged 7.2 years (range: 2-8) with age at breast development onset < 8 years and 12 control girls matched for the time from puberty onset (mean age 11.8 {\textpm} 1.2 years). Serum values of MKRN3, gonadotropins, and 17β-estradiol were evaluated before and during treatment with GnRHa (at 6 and 12 months). The MKRN3 gene was genotyped in CPP patients. In the girls from the control group, only basal levels were analyzed.

RESULTS: No MKRN3 mutations were found among CPP patients. MKRN3 levels declined significantly from baseline to 6 months of GnRHa treatment (p = 0.0007) and from 6 to 12 months of treatment (p = 0.003); MKRN3 levels at 6 months were significantly lower than in the control girls (p < 0.0001).

CONCLUSIONS: We showed that girls with CPP had a decline in peripheral levels of MKRN3 during GnRHa treatment. Our data suggest a suppression of MKRN3 by continuous pharmacological administration of GnRHa.

}, keywords = {Brain Diseases, Case-Control Studies, Child, Child, Preschool, Female, Follicle Stimulating Hormone, Genotype, Gonadotropin-Releasing Hormone, Humans, Longitudinal Studies, Luteinizing Hormone, Male, Puberty, Precocious, Ribonucleoproteins}, issn = {1663-2826}, doi = {10.1159/000493134}, author = {Grandone, Anna and Cirillo, Grazia and Sasso, Marcella and Tornese, Gianluca and Luongo, Caterina and Festa, Adalgisa and Marzuillo, Pierluigi and Miraglia Del Giudice, Emanuele} } @article {8309, title = {Acute lobar nephritis in children: Not so easy to recognize and manage.}, journal = {World J Clin Pediatr}, volume = {5}, year = {2016}, month = {2016 Feb 8}, pages = {136-42}, abstract = {

Acute lobar nephritis (ALN) is a localized non-liquefactive inflammatory renal bacterial infection, which typically involves one or more lobes. ALN is considered to be a midpoint in the spectrum of upper urinary tract infection, a spectrum ranging from uncomplicated pyelonephritis to intrarenal abscess. This condition may be difficult to recognize due to the lack of specific symptoms and laboratory findings. Therefore the disease is probably underdiagnosed. Computed tomography scanning represents the diagnostic gold standard for ALN, but magnetic resonance imagine could be considered in order to limit irradiation. The diagnosis is relevant since initial intravenous antibiotic therapy and overall length of treatment should not be shorter than 3 wk. We review the literature and analyze the ALN clinical presentation starting from four cases with the aim to give to the clinicians the elements to suspect and recognize the ALN in children.

}, issn = {2219-2808}, doi = {10.5409/wjcp.v5.i1.136}, author = {Bibalo, Cristina and Apicella, Andrea and Guastalla, Veronica and Marzuillo, Pierluigi and Zennaro, Floriana and Tringali, Carmela and Taddio, Andrea and Germani, Claudio and Barbi, Egidio} } @article {7689, title = {Appendicitis in children less than five years old: A challenge for the general practitioner.}, journal = {World J Clin Pediatr}, volume = {4}, year = {2015}, month = {2015 May 8}, pages = {19-24}, abstract = {

Acute appendicitis is one of the most common indications for abdominal surgery in pediatrics with peak incidence in the second decade of life. Acute appendicitis in the first years of life is an uncommon event. The clinical presentation is often varied and the diagnosis may be overshadowed by other medical conditions. Gastroenteritis is the most common misdiagnosis, with a history of diarrhea present in 33\% to 41\% of patients. Pain is the most common presenting symptom in children less than 5 years old, followed by vomiting, fever, anorexia and diarrhea. The most common physical sign is focal tenderness (61\% of the patients) followed by guarding (55\%), diffuse tenderness (39\%), rebound (32\%), and mass (6\%). Neonatal appendicitis is a very rare disease with high mortality; presenting symptoms are nonspecific with abdominal distension representing the main clinical presentation. The younger the patient, the earlier perforation occurs: 70\% of patients less than 3 years develop a perforation within 48 h of onset of symptoms. A timely diagnosis reduces the risk of complications. We highlight the epidemiology, pathophysiology, clinical signs and laboratory clues of appendicitis in young children and suggest an algorithm for early diagnosis.

}, issn = {2219-2808}, doi = {10.5409/wjcp.v4.i2.19}, author = {Marzuillo, Pierluigi and Germani, Claudio and Krauss, Baruch S and Barbi, Egidio} } @article {7757, title = {A case of Rubinstein-Taybi syndrome associated with growth hormone deficiency in childhood.}, journal = {Clin Endocrinol (Oxf)}, volume = {83}, year = {2015}, month = {2015 Sep}, pages = {437-9}, issn = {1365-2265}, doi = {10.1111/cen.12748}, author = {Tornese, Gianluca and Marzuillo, Pierluigi and Pellegrin, Maria Chiara and Germani, Claudio and Faleschini, Elena and Zennaro, Floriana and Grandone, Anna and Miraglia Del Giudice, Emanuele and Perrone, Laura and Ventura, Alessandro} } @article {7735, title = {Ondasetron Is More Likely Than Ketamine to Cause Ventricular Tachycardia.}, journal = {Pediatr Emerg Care}, volume = {31}, year = {2015}, month = {2015 Aug}, pages = {e4}, keywords = {Anesthetics, Dissociative, Female, Humans, Ketamine, Tachycardia, Ventricular}, issn = {1535-1815}, doi = {10.1097/PEC.0000000000000521}, author = {Marzuillo, Pierluigi and Rabach, Ingrid and Barbi, Egidio} } @article {3515, title = {Acquired long QT syndrome: a focus for the general pediatrician.}, journal = {Pediatr Emerg Care}, volume = {30}, year = {2014}, month = {2014 Apr}, pages = {257-61}, abstract = {

Acquired long QT syndrome (LQTS) is a disorder of cardiac repolarization most often due to specific drugs, hypokalemia, or hypomagnesemia that may precipitate torsade de pointes and cause sudden cardiac death. Common presentations of the LQTS are palpitations, presyncope, syncope, cardiac arrest, and seizures. An abnormal 12-lead electrocardiogram obtained while the patient is at rest is the key to diagnosis. The occurrence of drug-induced LQTS is unpredictable in any given individual, but a common observation is that most patients have at least 1 identifiable risk factor in addition to drug exposure. The cornerstone of the management of acquired LQTS includes the identification and discontinuation of any precipitating drug and the correction of metabolic abnormalities, such as hypokalemia or hypomagnesemia. Most of the episodes of torsade de pointes are short-lived and terminate spontaneously. We propose a management protocol that could be useful for the daily practice in the emergency pediatric department to reduce the risk of acquired QT prolongation.

}, keywords = {Adolescent, Death, Sudden, Cardiac, Electrocardiography, Female, General Practitioners, Humans, Long QT Syndrome, Ondansetron, Risk Factors, Serotonin Antagonists}, issn = {1535-1815}, doi = {10.1097/PEC.0000000000000108}, author = {Marzuillo, Pierluigi and Benettoni, Alessandra and Germani, Claudio and Ferrara, Giovanna and D{\textquoteright}Agata, Biancamaria and Barbi, Egidio} } @article {3481, title = {Paracetamol: a focus for the general pediatrician.}, journal = {Eur J Pediatr}, volume = {173}, year = {2014}, month = {2014 Apr}, pages = {415-25}, abstract = {

UNLABELLED: Paracetamol (acetaminophen) is one of the most popular and widely used drugs for the treatment of pain and fever in children. This drug has multiple mechanisms of action, but its pharmacodynamic is still not well known. The central nervous system is the main site of action and it mirrors the paracetamol effect compartment. The recommended dosages and routes of administration should be different whether paracetamol is used for the treatment of pain or fever. For example, the rectal route, while being efficacious for the treatment of fever, should be avoided in pain management. Paracetamol is a safe drug, but some clinical conditions and concomitant drugs, which are frequent in clinical practice, may increase the risk of paracetamol toxicity. Therefore, it is important to optimize its administration to avoid overdoses and maximize its effect. The principal mediator of the paracetamol toxicity is the N-acetyl-p-benzo-quinone imine (NAPQI), a toxic product of the paracetamol metabolism, which could bind cysteine groups on proteins forming paracetamol-protein adduct in the liver.

CONCLUSION: Although frequently prescribed, the concept of "effect compartment concentration" and the possible co-factors that could cause toxicity at recommended doses are not familiar to all pediatricians and general practitioners. We reviewed the literature concerning paracetamol mechanisms of action, we highlighted some relevant pharmacodynamic concepts for clinical practice, and we summarized the possible risk factors for toxicity at therapeutic dosages.

}, keywords = {Acetaminophen, Analgesics, Non-Narcotic, Child, Drug Overdose, Fever, Humans, Pain, Risk Factors}, issn = {1432-1076}, doi = {10.1007/s00431-013-2239-5}, author = {Marzuillo, Pierluigi and Guarino, Stefano and Barbi, Egidio} } @article {3578, title = {Re: Tramadol can selectively manage moderate pain in children following European advice limiting codeine use.}, journal = {Acta Paediatr}, volume = {103}, year = {2014}, month = {2014 Nov}, pages = {e466}, issn = {1651-2227}, doi = {10.1111/apa.12763}, author = {Calligaris, Lorenzo and Marzuillo, Pierluigi and Barbi, Egidio} } @article {3573, title = {Tramadol can selectively manage moderate pain in children following European advice limiting codeine use.}, journal = {Acta Paediatr}, volume = {103}, year = {2014}, month = {2014 Nov}, pages = {1110-6}, abstract = {

UNLABELLED: The European Medicine Agency recommendations limiting codeine use in children have created a void in managing moderate pain. We review the evidence on the pharmacokinetic, pharmacodynamic and safety profile of tramadol, a possible substitute for codeine.

CONCLUSION: Tramadol appears to be safe in both paediatric inpatients and outpatients. It may be appropriate to limit the current use of tramadol to monitored settings in children with risk factors for respiratory depression, subject to further safety evidence.

}, issn = {1651-2227}, doi = {10.1111/apa.12738}, author = {Marzuillo, Pierluigi and Calligaris, Lorenzo and Barbi, Egidio} }