Michaela Veronika Gonfiantini

Influenza-Like Illness Surveillance on Twitter through Automated Learning of Naïve Language

Twitter has the potential to be a timely and cost-effective source of data for syndromic surveillance. When speaking of an illness, Twitter users often report a combination of symptoms, rather than a suspected or final diagnosis, using naïve, everyday language. We developed a minimally trained algorithm that exploits the abundance of health-related web pages to identify all jargon expressions related to a specific technical term. We then translated an influenza case definition into a Boolean query, each symptom being described by a technical term and all related jargon expressions, as identified by the algorithm. Subsequently, we monitored all tweets that reported a combination of symptoms satisfying the case definition query. In order to geolocalize messages, we defined 3 localization strategies based on codes associated with each tweet. We found a high correlation coefficient between the trend of our influenza-positive tweets and ILI trends identified by US traditional surveillance systems.

Are parents of children hospitalized with severe community-acquired pneumonia more satisfied with care when physicians allow them to share decisions on the antibiotic route?

Despite convincing evidence that oral and injected amoxicillin have equal efficacy in children with severe community‐acquired pneumonia (CAP), hospitalized children often receive injected antibiotics. To investigate whether shared decision‐making (choosing the antibiotic route) influences parental satisfaction.

Corneal arcus as first sign of familial hypercholesterolemia

Figure 2. Corneal arcus is separated from the limbus by a thin ring of clear cornea (named “lucid interval of Vogt”). A 4-year-old boy was referred for investigation after his parents noticed the presence of a grayish ring parallel to the limbus of both eyes. His past medical history was unremarkable. His father was affected by familial hypercholesterolemia, which was responsive to statin therapy. The ophthalmologic evaluation described a corneal arcus separated by a 1-mm lucid interval (Figures 1 and 2). Blood exams revealed marked low-density lipoprotein hypercholesterolemia (530 mg/dL), suggesting a diagnosis of familial hypercholesterolemia. Corneal arcus, also named “arcus lipoides” or “arcus corneae,” is a white discoloration of the peripheral cornea near the corneoscleral limbus. There is a thin clear section separating the arcus from the limbus known as the lucid interval of Vogt. Arcus deposits tend to start at 6 and 12 o’clock and fill in until becoming completely circumferential. It develops in association with hyperlipidemia as a result of lipid deposition in the deep corneal stroma and the limbal sclera. Its prevalence increases with age. Corneal arcus should be differentiated from other lipid metabolisms affecting the cornea, such as lecithin-cholesterol acyltransferase deficiency deficiency, “fish eye” disease, or Tangier disease. n

Attitude of Italian physicians toward pertussis diagnosis.

Resurgence of pertussis has been observed in several countries whereas Italy continues to be a low incidence country. We hypothesize that the low reported incidence of pertussis in Italy could be biased by the attitude of physicians to suspect and diagnose pertussis in different age groups. We investigated the attitude of Italian physicians toward pertussis diagnosis through clinical scenarios. A cross-sectional study was conducted in June 2012 sending online questionnaires to pediatricians and general practitioners (GPs) involved in ambulatory primary care. The questionnaire included five clinical scenarios of patients of different ages (45 d, 5 y, 11 y, 24 y, 58 y) with prolonged cough of at least 2 weeks. Respondents were asked to choose a diagnosis among a list of 14. We observed a decreasing trend of suspected pertussis diagnosis with increasing age of the patient (from 46% at 45 d to 0 at 58 y). In Italy pertussis is seldom suspected in the differential diagnosis of cough particularly in adults. This may cause a significant under-notification of pertussis, with a higher impact in older age groups. Educational programs should be reinforced to consider the differential diagnosis of pertussis in individuals with atypical presentation and in older age groups.

Growth hormone excess in children with neurofibromatosis type-1 and optic glioma

In children with neurofibromatosis type 1 (NF1) and optic pathways glioma (OPG), growth hormone (GH) excess has been rarely reported and mainly associated to central precocious puberty. The aim of our study is to evaluate the prevalence of GH excess, the association with central precocious puberty, the relation with tumor site and the evolution over time in a large cohort of children with NF1 and OPG. Sixty‐four NF1 children with OPG were evaluated. Patients with stature and/or height velocity >2 SD for age were studied for GH secretion. Seven out of 64 children (10.9%) with NF1 and optic pathways glioma showed GH excess, isolated in 5 cases and associated to central precocious puberty in 2. All the children with GH excess had a tumor involving the chiasma. Children with GH excess underwent medical treatment with lanreotide and a minimum clinical/biochemical follow up of 2 years is reported. The present study demonstrates that GH excess should be considered as a relative frequent endocrine manifestation in NF1 patients, similarly to central precocious puberty. Therefore, these patients should undergo frequent accurate auxologic evaluations. On the other hand, an increase in height velocity in children with NF1, even despite normal ophthalmological exams, can suggest the presence of OPG and therefore represents an indication to perform brain MRI.

Protection against Pertussis in Humans Correlates to Elevated Serum Antibodies and Memory B Cells

Pertussis is a respiratory infection caused by Bordetella pertussis that may be particularly severe and even lethal in the first months of life when infants are still too young to be vaccinated. Adults and adolescents experience mild symptoms and are the source of infection for neonates. Adoptive maternal immunity does not prevent pertussis in the neonate. We compared the specific immune response of mothers of neonates diagnosed with pertussis and mothers of control children. We show that women have pre-existing pertussis-specific antibodies and memory B cells and react against the infection with a recall response increasing the levels specific serum IgG, milk IgA, and the frequency of memory B cells of all isotypes. Thus, the maternal immune system is activated in response to pertussis and effectively prevents the disease indicating that the low levels of pre-formed serum antibodies are insufficient for protection. For this reason, memory B cells play a major role in the adult defense. The results of this study suggest that new strategies for vaccine design should aim at increasing long-lived plasma cells and their antibodies.

Borderline cognitive level in a family with Bazex-Dupré-Christol syndrome

Bazex‐Dupré‐Christol syndrome (BDCS) [OMIM 301845] is an X‐linked dominant disorder of the hair follicle characterized by multiple basal cell carcinomas, follicular atrophoderma, congenital hypotrichosis, and hypohidrosis. Additional features include multiple milia, trichoepitheliomas, and axillary hidradenitis suppurativa as well as a variety of other symptoms. Some patients with a diagnosis of BDCS have had poor school performance. But no other associated psychopathological disorders have been described in the literature. We describe the neuropsychological characteristics and the co‐occurring psychopathological disorders in an Italian family (brother and sister, and their mother) affected by BDCS. The BDCS phenotype in this family was characterized by hypotrichosis, atrophoderma follicularis, milia, and trichoepitheliomas. No basal cell carcinomas were documented. At neuropsychological assessment the three affected family members all had a borderline cognitive level. Other identified psychopathological disorders included attention deficit hyperactivity disorder, executive deficits, academic difficulties, deficits in lexical skills, and internalizing problems. The presence of cognitive impairment in the three family members affected by BDCS suggests that cognitive impairment may be associated with the syndrome. It may be useful to assess neuropsychological performance in patients with BDCS to identify possible associated neuropsychological disorders.

Persistent neck pain in a girl: Klippel-Feil syndrome

A 4-year-old girl was referred for recurrent neck pain. On examination, she was noted to have a short neck with very limited range of motion and a low-set posterior hairline. Suspecting Klippel-Feil Syndrome (KFS), X-rays (figure 1A and B) and CT (figure 1C and D) with three-dimensional reconstruction (see online supplementary video 1) were performed and a complex malformation of the cervical spine and craniocervical junction was detected. …

Treatment of homozygous familial hypercholesterolaemia in paediatric patients: A monocentric experience

Background Homozygous familial hypercholesterolaemia is a rare life-threatening disease characterized by markedly elevated low-density lipoprotein cholesterol (LDL-C) concentrations and accelerated atherosclerosis. The presence of double gene defects in the LDL-Receptor, either the same defect (homozygous) or two different LDL-raising mutations (compound heterozygotes) or other variants, identify the homozygous phenotype (HopFH). Apheresis is a procedure in which plasma is separated from red blood cells before the physical removal of LDL-C or the LDL-C is directly removed from whole blood. It is currently the treatment of choice for patients with HopFH whose LDL-C levels are not able to be reduced to target levels with conventional lipid-lowering drug therapy. Design The aim of this study is to report a cohort of six paediatric patients and to evaluate the long term efficacy of combined medical therapy and LDL-apheresis on LDL-C reduction. Methods We collected data from six children with confirmed diagnosis of HopFH (two females and four males; age range at diagnosis 3–8 years, mean 6 ± 1 years) from a single clinical hospital in Italy from 2007 to 2017. Results Clinical manifestations and outcomes may greatly vary in children with HopFH. Medical therapy and LDL-apheresis for the severe form should be started promptly in order to prevent cardiovascular disease. Conclusions Lipoprotein apheresis is a very important tool in managing patients with HopFH at high risk of cardiovascular disease. Based on our experience and the literature data, the method is feasible in very young children, efficient regarding biological results and cardiac events, and safe with minor side-effects and technical problems. We advise treating homozygous and compound heterozygous children as soon as possible.

Eruptive Xanthomas in Lipoprotein Lipase Deficiency

A 12-year-old-boy was referred by his pediatrician for assessment of eruptive skin lesions (Figure 1). The boy has lipoprotein lipase (LPL) deficiency because of homozygous mutation in the LPL gene diagnosed in neonatal age with acute onset of cardiac failure and bilateral pneumothorax. He was initially treated with plasmapheresis and then with lipid dietary restriction, omega3 oil, and fibrates, but the compliance to dietotherapy prescriptions worsened during time. Blood exams revealed a chylous appearance (Figure 2). LPL deficiency is a rare autosomal recessive monogenic disease related to the lack of a functional LPL protein, which is a key enzyme in the catabolism of triglyceride-rich lipoproteins, in particular chylomicrons and very low density lipoproteins. With fat intake, there is an increased risk of pancreatitis and accumulation of lipid in specific body locations, such as the skin, producing eruptive xanthomas. These are typically described as crops of 1-4 mm light yellow-orange papules, commonly located on the hands, buttocks, and extensor portions of extremities. The mainstay for pediatric management is a diet severely restricted in fat content and lipid-lowering agents. Longterm compliance is extremely difficult to maintain and negatively impacts on patients’ quality of life. ■