Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastoma.

Noonan-like syndrome with loose anagen hair (NSLH), also known as Mazzanti syndrome, is a RASopathy characterized by craniofacial features resembling Noonan syndrome, cardiac defects, cognitive deficits and behavioral issues, reduced growth generally associated with GH deficit, darkly pigmented skin, and an unique combination of ectodermal anomalies. Virtually all cases of NSLH are caused by an invariant and functionally unique mutation in SHOC2 (c.4A>G, p.Ser2Gly). Here, we report on a child with molecularly confirmed NSLH who developed a neuroblastoma, first suspected at the age 3 months by abdominal ultrasound examination. Based on this finding, scanning of the SHOC2 coding sequence encompassing the c.4A>G change was performed on selected pediatric cohorts of malignancies documented to occur in RASopathies (i.e., neuroblastoma, brain tumors, rhabdomyosarcoma, acute lymphoblastic, and myeloid leukemia), but failed to identify a functionally relevant cancer-associated variant. While these results do not support a major role of somatic SHOC2 mutations in these pediatric cancers, this second instance of neuroblastoma in NSLAH suggests a possible predisposition to this malignancy in subjects heterozygous for the c.4A>G SHOC2 mutation.

A case of colloid milium in patient with beta thalassaemia major.

Colloid milium (CM) is a rare cutaneous condition characterized by translucent papules occurring on sun-exposed regions including the face, neck and dorsal aspects of the hands and back. Clinically, there are two variants of CM: an adult-onset type and a juvenile form. The juvenile form is inherited and presents before puberty. Probably this variant is because of an inherited susceptibility to ultraviolet (UV) light and can be transmitted as both autosomal recessive and autosomal dominant character. In this paper, we report an interesting case of adult CM in a transfused patient affected by beta thalassaemia major. The association of CM with beta thalassaemia, to our knowledge, has not been reported previously, in literature. Thus, this case represents the first case of CM associated with beta thalassaemia major. In our view, the lesion could be related to excess iron, similar to pseudoxanthoma elastic-like lesions, another cutaneous disorder which is present in beta thalassaemia. As our patient is a farmer and was exposed to sun during his work, UV light damage could have have a role in promoting the development of the disease. Other cases of CM associated with beta thalassaemia should be reported to confirm these hypotheses.

Speaking about emotional events in hospital: the role of health-care professionals in children emotional experiences.

This paper presents a qualitative study aimed at exploring the role of health-care professionals in hospitalized children's emotional experiences. A total of 27 children and adolescents from ages 6 to 15 years admitted to the Pediatric Hematology and Oncology ward of an Italian hospital participated in the study. Each participant was asked to talk about an emotional experience of happiness, anger, sadness and fear, felt in the presence of a doctor or nurse on the ward. The emotional tales were coded and analyzed qualitatively. The results showed that all the emotions considered were experienced when the staff was present, nurses in particular. Doctors and nurses played a role of active participants, encouraging children's emotions, especially for happy events. More research is needed to clarify the role of the staff in supporting children to cope with negative emotions.

Platinum Compound-Related Ototoxicity in Children: Long-Term Follow-Up Reveals Continuous Worsening of Hearing Loss.

OBJECTIVES: The purpose of this study was to evaluate the severity of hearing loss after cisplatin and/or carboplatin treatment in young children and to analyze its evolution and its relation to different therapy schedules. METHODS: One hundred twenty patients treated in the Pediatrics Department at the Institut Gustave-Roussy from 1987 to 1997 for neuroblastoma, osteosarcoma, hepatoblastoma, or germ cell tumors were analyzed. Median age at diagnosis was 2.6 (range 0-17) years. Median follow-up was 7 (1-13) years. Chemotherapy regimens contained cisplatin and/or carboplatin. Three patients also received high-dose carboplatin. Cisplatin was administered at a dose of 200 mg/m/course in 72% of cases. The median cumulative dose was 400 mg/m for cisplatin and 1,600 mg/m for carboplatin. Hearing loss of grade 2 or above, according to Brock's grading scale, was revealed with pure tone audiometry and behavioral techniques. RESULTS: Carboplatin alone was not ototoxic. Deterioration of hearing of grade 2 or above was observed in 37% of patients treated with cisplatin and 43% of patients treated with cisplatin plus carboplatin (P = NS). Fifteen percent of patients experienced grade 3 or 4 ototoxicity. Ototoxicity was most often observed after a total cisplatin dose of at least 400 mg/m. No improvement was observed with time; on the contrary, worsening or progression of hearing loss at lower frequencies was detected during follow-up. Only 5% of audiograms showed toxicity of at least grade 2 before the end of therapy; in contrast, this level was observed in 11% of early post-therapy evaluations and in 44% after more than 2 years of follow-up. CONCLUSIONS: Children treated with cisplatin at cumulative doses approaching 400 mg/m require long-term surveillance to avoid overlooking hearing deficits. Carboplatin, at a standard dose, does not appear to be a significant risk factor for ototoxicity even in patients who have already been treated with cisplatin.

Hospitalized children's representations of their relationship with nurses and doctors.

This article reports an explorative study which aims to investigate hospitalized children's views of their relationships with nurses and doctors. Twenty-seven school-aged children and adolescents from 6 to 15 years old in the paediatric haematology and oncology ward of an Italian hospital participated in the study. Each participant was asked to draw him or herself with a doctor or nurse from the ward while they were doing something. The drawings were analysed using Pictorial Assessment of Interpersonal Relationships (PAIR) and a qualitative analysis. The results showed that the participants viewed their relationships with health professionals positively, in particular with the nurses. This relationship was perceived as close, intimate, cohesive and without conflict. In some cases it became an emotional bond. Finally, this relationship helped the patients to cope with painful and uncomfortable medical procedures, which gradually became familiar and accepted. The clinical implications of this study are discussed.

Rotavirus and not age determines gastroenteritis severity in children: a hospital-based study.

BACKGROUND: The severity of childhood gastroenteritis is generally believed to be age-related rather than aetiology-related. Rotavirus-induced gastroenteritis is more severe than gastroenteritis caused by other enteric pathogens and is also age-related. We thus addressed the question of whether the increased severity of rotavirus-induced gastroenteritis is related to age or to features intrinsic to the agent. STUDY DESIGN: In this multicentre, hospital-based, prospective survey, we evaluated the severity of diarrhoea in rotavirus-positive and rotavirus-negative children up to 4 years of age. Severity was assessed with a score in four groups of age-matched children. RESULTS: Rotavirus was detected in 381 of 911 children. Disease severity was evaluated in 589 cases for which clinical data were complete. The rotavirus-positive and rotavirus-negative groups differed with regards to diarrhoea duration, hospital stay, degree of dehydration and the number of episodes of vomiting. Gastroenteritis was more severe in rotavirus-positive than in rotavirus-negative children. In contrast, none of the main severity parameters differed in the four age groups, irrespective of the presence of rotavirus. CONCLUSIONS: These data provide the evidence that aetiology and not age determines diarrhoeal severity. The demonstration that diarrhoea was more severe in rotavirus-positive children supports the need for a rotavirus vaccine and for studies that address the duration of vaccine protection.

Molecular epidemiology of norovirus infections in sporadic cases of viral gastroenteritis among children in Northern Italy.

Surveillance of norovirus infections in sporadic cases of pediatric gastroenteritis admitted to a main hospital in Northern Italy during a full-year period (2002) showed that noroviruses (10.4%) were the second most common causative viral agent, following rotaviruses (21.1%), and noroviruses (81%) were mostly implicated in mixed infections. The epidemic period of norovirus was September-December, with September and November as months of major prevalence (33.3 and 38.5%, respectively). Six distinct norovirus genotypes were detected (GI.7, GII.1, GII.2, GII.4, GII.7, GII, not assigned named GIIb), and the predominant genotype was GII.4. A "new GII.4 2002 variant" accounted for 82.9% of total strains. Since the severity of norovirus symptoms does not usually require admission to hospital, the burden of norovirus disease in the general children population may be much higher than that suggested by the present hospital-based investigation.

Platinum compound-related ototoxicity in children: long-term follow-up reveals continuous worsening of hearing loss.

OBJECTIVES: The purpose of this study was to evaluate the severity of hearing loss after cisplatin and/or carboplatin treatment in young children and to analyze its evolution and its relation to different therapy schedules. METHODS: One hundred twenty patients treated in the Pediatrics Department at the Institut Gustave-Roussy from 1987 to 1997 for neuroblastoma, osteosarcoma, hepatoblastoma, or germ cell tumors were analyzed. Median age at diagnosis was 2.6 (range 0-17) years. Median follow-up was 7 (1-13) years. Chemotherapy regimens contained cisplatin and/or carboplatin. Three patients also received high-dose carboplatin. Cisplatin was administered at a dose of 200 mg/m/course in 72% of cases. The median cumulative dose was 400 mg/m for cisplatin and 1,600 mg/m for carboplatin. Hearing loss of grade 2 or above, according to Brock's grading scale, was revealed with pure tone audiometry and behavioral techniques. RESULTS: Carboplatin alone was not ototoxic. Deterioration of hearing of grade 2 or above was observed in 37% of patients treated with cisplatin and 43% of patients treated with cisplatin plus carboplatin (P = NS). Fifteen percent of patients experienced grade 3 or 4 ototoxicity. Ototoxicity was most often observed after a total cisplatin dose of at least 400 mg/m. No improvement was observed with time; on the contrary, worsening or progression of hearing loss at lower frequencies was detected during follow-up. Only 5% of audiograms showed toxicity of at least grade 2 before the end of therapy; in contrast, this level was observed in 11% of early post-therapy evaluations and in 44% after more than 2 years of follow-up. CONCLUSIONS: Children treated with cisplatin at cumulative doses approaching 400 mg/m require long-term surveillance to avoid overlooking hearing deficits. Carboplatin, at a standard dose, does not appear to be a significant risk factor for ototoxicity even in patients who have already been treated with cisplatin.