Acanthosis nigricans in adolescents: a practical approach.

Acanthosis nigricans (AN) is a lesion affecting localized areas of the skin in persons with obesity and/or hyperinsulinemia. Biochemical mechanisms responsible for developing this hyperplastic lesion are unclear, but likely involve local cutaneous growth factors. It is associated with obesity, endocrinopathies (insulin resistance, diabetes mellitus, Cushing disease and acromegaly) and visceral malignancies. Clinicians should recognize AN because it may herald disorders ranging from endocrine disturbances to malignancy. Early recognition of these conditions is essential to identify children who are at highest risk for developing type 2 diabetes and further metabolic abnormalities.

Adolescent health care in Italy: a mini-review.

The purpose of this mini-review is to present the National Health System and services available for adolescents in Italy, and to review the most relevant data on morbidity and mortality in Italian teens. Adolescent medicine in Italy is not a separate speciality, but there are some distinct services for adolescents in paediatric departments or gynaecologic wards, mostly in large cities where university hospitals or hospital of national relevance are located. Primary health care in Italy is provided mainly by general practitioners (GPs) and pediatricians, and on-call physicians (Guardia Medica) for after-hours medical care and services. The number of centres providing care for adolescents in Italy is 4097 (50% of these are in the North of Italy, 20% in the Central regions and 20% in the South and Islands). The population of Italy on January 1st 2011 was approximately 60,477,881 and the number of adolescents, aged 10 to 19 years, was 6,214,000. The most frequent causes of death in adolescents are motor vehicle accidents - more than half of which are related to drug or alcohol use - followed by cancer and suicide. In primary care, adolescents present with a large number of issues, particularly upper respiratory infections, musculoskeletal problems, pain syndromes, obesity, eating disorders, dermatological issues, mood and somatoform disorders, school and mental health problems, and chronic fatigue, many of which require a coordinated, multidisciplinary management approach. The estimated population with a chronic illness is 8%. There are no specific protocols for the transition to adult medicine physicians for patients with chronic diseases or special health needs. In order to improve the quality and quantity of education in adolescent health for paediatricians and GPs, the Study Group of Emilia and Romagna Region for Adolescent Health Care (SGA-ER) is going to organize, beginning in 2012, a two year educational intervention course in adolescent health.

The SGA-ER educational intervention in adolescent health care for Italian physicians: goals, content and instructional design.

Adolescent medicine is a field dedicated to helping young people grow and thrive, in relation to their particular stage of development. In Italy, adolescent medicine is not a distinct speciality, but it is practised in some services for adolescents in paediatric departments. Increasing educational opportunities in adolescent health may help to accelerate the development and dissemination of new and improved therapeutic approaches for serving youth and also attract a larger cadre of physicians. Other pediatric subspecialties, e.g. oncology, rheumatology and adolescent psychiatry, have developed successfully and may represent excellent models for adolescent medicine specialists to emulate. The Adolescent Health Study Group of the Emilia and Romagna Region (SGA-ER) was established in 2010 in an effort to generate strategies and possible solutions to improve the quality and quantity of knowledge in adolescent health care for pediatricians and GPs. Several methods and approaches have been implemented to improve physicians' skills in adolescent health care. The authors report the goals, content and instructional design of an educational course in adolescent medicine. Alliances with other adolescent health groups may provide an additional opportunity for networking, interaction and exchange of ideas amongst professionals.

ASN540SER mutation is associated with a mild form of hypochondroplasia: a 7 years follow-up in an Italian boy.

Skeletal dysplasias (SKD) are genetic disorders that result in the abnormal development of part or all of the skeleton and are commonly associated with short stature. The most common SKDs that typically result in short stature include achondroplasia/hypochondroplasia (HCH) both caused by different mutations in the same gene. HCH diagnosis is based on the clinical appearance during development and conventional X-ray findings. In about 70% of patients, missense mutations in the gene coding for the fibroblast Growth Factor Receptor 3 (FGFR3) affects the amino acid at position 540, mostly resulting in the amino acid exchange N540K.Subjects with HCH, heterozygous for the N540K substitution are significantly more disproportionate than individuals without this mutation. We report the clinical and radiographic features of an Italian family with HCH with an unusual N540S mutation, inside the common mutation hot spot of this condition. This is the first case reported in Italy and the third in the literature. During a 7-years-follow-up, the boy started the puberty at the age of 11.3 years and the growth spurt was observed between 13.7 and 14.9 years (+ 9.1 cm.).During pubertal development the sitting height (SDS) improved from - 1.5 to - 0.6 and the subischial leg length (SDS) progressed from - 2.6 to - 3.3.At the age of 16.7 year the standing height was 157.6 cm ( - 2.4 SDS), testicular volume was 15 ml and bone age 16.5 year. The present study and the other two cases reported in the literature stress the important role of the asn 540 site in the tyrosine kinase I domain in the pathogenesis of HCH and underline the importance that, in patients with HCH who do not have the common N540K mutation, sequence analysis of the tyrosine kinase I domain of FGFR3 should be performed to exclude other changes in that region.

Effectiveness of standard cervical physiotherapy plus diaphragm manual therapy on pain in patients with chronic neck pain: A randomized controlled trial.

BACKGROUND: Literature concerning the effect of diaphragm treatment to reduce neck pain symptoms is scarce. Aim of this trial was to investigate the effects of diaphragm manual therapy associated with standard physiotherapy treatment on pain in patients with Chronic Neck Pain (CNP). METHODS: In a private practice clinic, subjects with CNP were randomly assigned to receive three 30-min treatment sessions of standard cervical physiotherapy and Diaphragm Manual Therapy (DMT) or Sham Diaphragm Technique (SDT). Participants and assessors were blinded to the assignment. Primary outcome was pain, secondary outcomes were cervical active range of motion, pain pressure threshold, disability and quality of life measured at baseline, before and after each session, at 3 and 6-months. Adverse events were monitored. A non-parametric multivariate approach (combined permutation test) was applied to assess the effect of the treatment on all the outcomes. An intention to treat analysis was performed. RESULTS: Forty patients were randomly allocated to DMT and SDT groups. Combined permutation test showed a significant higher improvement in DMT group compared to SDT group (p-value = 0.0002). The between-group comparisons on single outcomes showed a statistically significant improvement only for pain pressure threshold on upper trapezius (adjusted p-value = 0.029). No adverse events related to the intervention were registered. CONCLUSIONS: In patients with CNP, addition of diaphragm manual techniques to standard cervical treatment seems to give a better global outcome, but this improvement is of unclear clinical relevance; the primary outcome seems not to have a role. Further studies are needed to confirm and clarify these results. TRIAL REGISTRATION: Release Date: July 18, 2017 Registered in ClinicalTrial.gov database ID: NCT03223285A.

A 15 year-review of peritoneal dialysis-related peritonitis: microbiological trends and patterns of infection in a teaching hospital in Argentina.

This study reports the infectious peritonitis rates in 44 patients on peritoneal dialysis in three different systems over the last 15 years, covering clinical outcomes, exit-site infections, tunnel infections, causative microorganisms, and the history of susceptibility of organisms causing peritonitis, in order to establish our center-specific selection of empiric therapy. Two microbiological procedures were herein used: method A, where 100 ml of dialysate were centrifuged and cultured in standard media and into blood-culture bottles; and method B, where 10 ml were directly injected into blood-culture bottles. Swabs from the exit-site or tunnel were taken when purulent drainage was observed. There were 96 episodes of peritonitis during 110.43 patient-years (0.87 episodes/patient-year). Sensitivity of method A was 96.88% (93/96 episodes) versus 81.25% (78/96) of method B (p=0.001). Gram stain sensitivity was 36.46%. The etiologic agents were 64 (56.64%) gram-positive cocci, 22 (19.47%) gram-negative fermentative rods, 20 (17.7%) gram-negative non fermentative rods, 5 (4.43%) yeasts, 1 (0.88%) micelial fungus, and 1 (0.88%) anaerobic rod. Fifty-five exit-site infections were documented (0.5 episodes/patient-year). Ceftazidime and imipenem showed excellent activity on gram-negative rods. There were 92.3% of methicillin-susceptible Staphylococcus aureus but only 33.3% of methicillin-susceptible coagulase-negative staphylococci; vancomycin was active against 100% of the gram-positive cocci. The clinical outcomes of peritonitis were 73 initial cure, 19 catheter removal and four related deaths. The empiric therapy in our center should be vancomycin plus ceftazidime or imipenem. Once the etiological agent and its susceptibility pattern are known, the deescalating therapy must be applied to avoid the emergence and spread of vancomycin-resistant microorganisms.

Fungal peritonitis in patients on peritoneal dialysis: twenty five years of experience in a teaching hospital in Argentina.

Fungal peritonitis is a rare but serious complication of peritoneal dialysis. The aim of this study was to analyze peritonitis rates, associated factors, clinical course, microbiological aspects, therapeutic regimens, and outcome of patients with fungal peritonitis in the dialysis center of a teaching hospital over the last 25 years. A hundred and eighty three episodes of peritonitis were detected and microbiologically documented in 57 patients. Fungi were identified in eight episodes (4.37%) occurring in seven female patients. The fungal peritonitis rate was 0.06 episodes/patient-year. Gram and Giemsa stains were positive in five out of eight dialysate fluids. The causative microorganisms were: Candida albicans in five episodes, and Candida parapsilosis, Candida glabrata, and Neosartorya hiratsukae in the remaining three. Antibiotics were administered to all but one patient, within 3 months before fungal peritonitis was detected. All patients required hospitalization, and antifungal therapy was administered in all episodes. The Tenckhoff catheter was removed in seven out of eight fungal peritonitis. All patients recovered from the fungal episodes. In the group of patients studied, it is concluded that recent exposure to antibiotics and female sex, were strongly associated with the development of fungal peritonitis by yeasts. The peritonitis caused by the environmental filamentous fungus did not require antibiotic pressure. Direct microscopy of the dialysate pellet was extremely useful for the prompt management of the fungal episode. Fungal peritonitis preceded by multiple episodes of bacterial peritonitis always determined the definitive dropout of the patient from the peritoneal dialysis program. Patients with de novo yeast-related peritonitis could continue on the program.

Prognosis and prediction of response in breast cancer: the current role of the main biological markers.

In the medical literature there are frequently conflicting reports on the utility of biological tumour markers available in the clinical management of breast cancer. In this review we analyse current information on the relationships between the most widely investigated breast cancer biological markers including oestrogen and progesterone receptors, p53, Bcl-2, c-erbB-2, cyclin expression, proliferative activity, DNA ploidy and the urokinase plasminogen activation system, as well as their relevance to prognosis and response to clinical treatment. By biological prognostic indicator, we mean a marker that correlates with survival and disease-free survival; the term predictor marker indicates a marker that is capable of predicting tumour sensitivity or resistance to various therapies. Similarly to other authors' experiences, our analysis suggests that oestrogen receptors are weak prognostic indicators and good predictors of response to endocrine therapy. Furthermore, there are consistent data suggesting that proliferation indices are good indicators of prognosis, and that they are directly related to response to chemotherapy and closely related to response to hormonotherapy. On the contrary, there is no evidence or conflicting data for all of the other biological markers. These should be considered in the context of randomized trials in order to precisely define their prognostic and predictive roles. p53 and c-erbB-2 seem to be the most promising factors, but their use in routine practice still needs validation.

Biphenotypic acute leukemia: a case report.

We describe an uncommon case of acute leukemia in which leukemic blasts expressed myeloid antigens and cyCD79alpha molecule. In this 49-year old male patient, two distinct blast populations were detected in peripheral blood and bone marrow samples: one of small size resembling lymphoblasts and another with pink cytoplasmic granules resembling myeloblasts. Cytochemical reaction for myeloperoxidase was negative in both cell types. Conventional cytogenetic analysis showed a normal karyotype (46 XY) in all metaphases studied, while gene rearrangement analysis by seminested PCR of the immunoglobulin heavy chain (Ig-H) and T-cell-gamma chain (TCR-gamma) receptor, showed a germline configuration of the TCR and clonal rearrangement of Ig-H chain genes. Multicolour cytofluorimetric analysis showed that bone marrow and peripheral blood blasts expressed CD19, CD79alpha bright, CD22 and terminal deoxynucleotidyl transferase (TdT) as lymphoid markers, CD13, CD117, CD15 as myeloid markers, CD34, HLA-DR as stem cell markers. CD33 myeloid antigen was expressed by 50% of the blastic population. No differences in the immunophenotypic profile were detected in the two blast populations which were identified by morphology. According to EGIL (European Group of Immunological Classification of Leukemias) and WHO (World Health Organization) criteria, a diagnosis of biphenotypic acute leukemia (BAL) was made. The patient was treated with AML induction therapy followed by autologous stem cell transplantation, but relapse free survival was 6 months. The patient died a few weeks later due to unresponsiveness to salvage chemotherapy regimens. We conclude that patients with BAL should have a risk stratification with treatment tailored to their immunophenotype and gene rearrangement profiles.

[An open comparative study of sulbactam/ampicillin vs mezlocillin in adult and pediatric patients. Efficacy and tolerability]. / Studio aperto comparativo sulbactam/ampicillina vs mezlocillina in pazienti in età adulta e pediatrica. Efficacia e tollerabilità.

Sulbactam is a beta-lactamase inhibitor that, when combined with ampicillin, extends its antibacterial activity against beta-lactamases producing organisms. The clinical efficacy and safety of the sulbactam/ampicillin (S/A) combination versus mezlocillin (M), was assessed in a prospective comparative randomised study. Sixty-five patients (12 children), with lower respiratory tract infections (40), UTIs (20), and skin/soft tissue infections (5), were treated with S/A (32) or M (33 patients), given IV or IM. The two treatment groups did not significantly differ in types of infection, infecting organisms, and severity of underlying disease. Explicit criteria were used to define infections, clinical response, local and systemic tolerability, and adverse effects. A total of 33 organisms were isolated; 3/33 were resistant to S/A, 7/33 to M, and 15/33 to A alone. A successful clinical outcome (cure + improvement), was obtained in 29 out of 30 assessable patients in the S/A group, and in 30/31 in the M group. Both treatments resulted 100% effective in eradicating infecting pathogens: this confirms their high bactericidal activity, also against bacterial species showing remarkable antibiotic resistance patterns, and in variously immunocompromised hosts. Both S/A and M; therapeutic courses were well tolerated; only four out of the 61 assessable patients (2 in S/A, and 2 in M group), experimented mild, transient side-effects, that did not require modification of the treatment regimens. We conclude that both S/A and M appeared very safe and effective drugs; in regard to clinical and microbiological effectiveness and local and systemic tolerability, no statistically significant differences (p greater than 0.05) between the two groups were observed, in treating various bacterial infections, in both adult and paediatric age.

[Peritonitis in continuous ambulatory peritoneal dialysis. Microbiological and clinical evaluation]. / Peritonitis en diálisis peritoneal contínua ambulatoria. Evaluación microbiológica y clínica.

In 1976, Popovich et al. described a technique of peritoneal dialysis using bottled dialysate. Later Oreopoulos et al. modified the technique by using plastic bags. But peritonitis still is a major and potentially serious complication of peritoneal dialysis. We have evaluated a) microbiologic diagnostic methods for infectious peritonitis, b) incidence of etiologic agents, and c) the evolution during antimicrobial treatment. Eighteen patients with chronic renal failure of diverse causes were followed from initiation of the CAPD program since January 1981 until June 1988. There were 80 episodes of infectious peritonitis during 17 patient-years of dialysis with an overall incidence of peritonitis of 4.7 episodes/patient-year. The total volume centrifuged technique and culture of sediment showed a sensibility of 85% in 73 episodes where cultures were obtained. The 59.1% of episodes of peritonitis were caused by gram negative bacilli; 11.6% were due to Acinetobacter calcoaceticus and Gram positive cocci accounted for 37.3%. These results are different from those found in other countries because most of our patients had received antimicrobial agents which probably changed their body flora, some did not have manual ability, others were of bad hygienic habits and finally, all of them had frequent contact with hospital environment. The species most frequently isolated were coagulase negative staphylococci (12.8%), probably from patients' skin flora. (ABSTRACT TRUNCATED AT 250 WORDS)

[Hutchinson-Gilford progeria. A rare case of neonatal occurrence]. / Progeria di Hutchinson-Gilford. Un raro caso ad insorgenza neonatale.

A case of Hutchinson-Gilford progeria syndrome is described in which phenotypic and metabolic symptoms were already evident at birth. Both under a clinical and autopsy point of view an early old age of organs and apparatuses was apparent, posing the problem of the reason why an early old aging occurs. The authors mention literature in favour of a genetic control of cellular aging and make the assumption that the genes controlling old age are various and that a greater or lesser presence and incidence of them could justify the earlier or normal appearance of this status.

[Clinical and diagnostic approach to children of low stature. Evaluation of a 24-month hGH treatment of patients with growth impairment of diverse etiopathogenesis]. / Approccio clinico-diagnostico al bambino con bassa statura. Valutazione della terapia con hGH a 24 mesi in soggetti con deficit dell'accrescimento di diversa eziopatogenesi.

Growth retardation represents a frequent reason of consultation of Clinical Centers interested in Pediatric Endocrinology. Short stature is a problem especially considered by patients and their families, either because of fear of organic pathologies possibly underlying growth retardation, or because of psychological implications, frequently related to growth retardation and short stature. The Authors describe their clinical and diagnostic approach to short stature; general data from 302 patients followed and treated for growth delay are presented. Clinical experience with recombinant growth hormone (hGH) is discussed in detail: a total of 61 prepuberal children (9 with classic GH deficiency, 26 with partial GH deficiency, 18 with neurosecretory deficit, 6 "short normals", one patient with Turner's syndrome and one case of skeletal dysplasia) have been treated with hGH for a period ranging from 12 to 24 months. Height velocity (expressed as cm/year) increased significantly in all considered groups during the first and the second year of treatment, while considering standard deviation values for chronological age, all treated subjects increased significantly their stature after one year of therapy, but only patients with total GH deficiency appeared to obtain a significant gain after a 2-year course with hGH. No significant adverse effects attributable to hGH administration were observed.

[Rokitansky syndrome. Description of a case in childhood]. / La sindrome di Rokitansky. Descrizione di un caso in età pediatrica.

A case of Rokitansky syndrome is reported in association with total agenesis of the uterus and vagina. All pathogenic, clinic, diagnostic and therapeutic viewpoints are mentioned. The Authors emphasize the importance of an early diagnosis and careful psychological training of patients and their families since a successful reconstructive treatment depends upon an absolute and lasting cooperation.

Neonatal bacterial meningitis.

Neonatal bacterial meningitis (NM) continues to be a serious disease with an unchanging rate of adverse outcome of 20-60%, despite a worldwide decline in mortality. The 3 major pathogens in developed countries are: Group B streptococcus, gram negative rods and Lysteria monocytogenes. Signs and symptoms of NM may be subtle, unspecific, vague, atypical or absent. In order to exclude NM, all infants with proven or suspected sepsis should undergo lumbar puncture. Positive culture of cerebrospinal fluid may be the only way to diagnose NM and to identify the pathogen, as CSF parameters Smay be normal at early stages and NM may occur frequently (up to 30% of cases) in the absence of bacteraemia. When NM is suspected, treatment must be aggressive, as the goal is to achieve bactericidal concentration of antibiotics and to sterilize CSF as soon as possible. Antibiotics should be administered intravenously, at the highest clinically validated doses. Empiric antibiotic treatment should include agents active against all main pathogens; currently the recommended empiric treatment of NM is ampicillin, plus an aminoglycoside and a third-generation cephalosporn. Therapy should be reassessed after cultures and antibiotic susceptibility is available. Prevention of neonatal sepsis, early recognition of infants at risk, prompt treatment and future adjunctive therapies will improve prognosis. Finally, we present the first preliminary Italian data on GBS meningitis. Data are obtained from an area-based study conducted In Emilia-Romagna during 2003 to 2009.