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1.
Sci Rep ; 14(1): 2268, 2024 01 27.
Article in English | MEDLINE | ID: mdl-38280939

ABSTRACT

Urinary tract infections (UTIs) are the main complication associated with clean intermittent catheterization (CIC) and are facilitated by post-void residual urine and trauma to the mucosa during voiding. The risk of UTI may be diminished by reducing the residual volumes and preventing microtrauma caused by mucosal suction through the eyelets of conventional eyelet catheters (CEC). A new micro-hole zone catheter (MHZC) was developed and tested in an ex vivo porcine lower urinary tract model and in vivo, in pigs, against a CEC. It was shown that, irrespective of the micro-hole diameter, the new catheter ensured increased flowrates and significantly lower residual volumes at the first flow-stop. Furthermore, with a micro-hole diameter of 0.4 mm, mucosal suction was virtually eliminated, regardless of the insertion depth or simulated intra-abdominal pressure mimicking sitting or standing humans. Pressure profile experiments and endoscopy studies indicated that the bladder gradually folds against the drainage tip of the new catheter, without blocking the flow, and, unlike with the CEC, sharp pressure variations and flow-stops did not occur during voiding. The MHZC outperformed the CEC in all tested scenarios and decreased residual volumes, thus potentially decreasing the risk of UTIs.


Subject(s)
Intermittent Urethral Catheterization , Urinary Retention , Urinary Tract Infections , Humans , Animals , Swine , Urinary Bladder , Urinary Tract Infections/prevention & control , Urinary Tract Infections/etiology , Intermittent Urethral Catheterization/adverse effects , Catheters/adverse effects
2.
Childs Nerv Syst ; 40(1): 205-211, 2024 Jan.
Article in English | MEDLINE | ID: mdl-37688616

ABSTRACT

PURPOSE: The aim of the present study is to evaluate a population of young patients affected by Spina Bifida (SB) to describe their cardiorespiratory function and bone mineral density profile, analyzing any differences between people performing and those who do not perform sports activity. The study also aimed to rule out possible congenital heart disease associated with spina bifida, considering the common origin of certain cardiac structures with those found to be altered in SB patients. METHODS: Thirty-four young patients, aged between 12 and 22 years, diagnosed with spinal dysraphism (SD), have been clinically described and, in order to evaluate their physical fitness, functional capacity and bone mass, almost all of them underwent a complete cardiorespiratory assessment, including electrocardiogram (ECG), echocardiogram, Cardiopulmonary Exercise Test (CPET), body composition analysis using bioimpedance analysis (BIA) and Dual Energy X-ray Absorptiometry (DEXA), as well as the estimation of bone mineral density (BMD) with Computerized Bone Mineralometry (CBM). RESULTS: Collected data demonstrated that only 35% of the subjects practiced physical activity during the week. BMI and percentage FM values were pathological in at least 50% of the population. On cardiological investigations (ECG and echocardiogram), no significant alterations were found. In all patients who performed CPET (79.4%), pathological values of the main functional capacity parameters were revealed, especially peak oxygen consumption (VO2 peak), even when corrected for BCM or FFM estimated at BIA and DEXA, respectively. In the CBM analysis, out of 27 patients in whom the femoral T-score was evaluated, a condition of osteopenia was revealed in 40.7% of the patients (11/27) and osteoporosis in 18.5% (5/27); out of 27 patients in whom the lumbar T-score was evaluated, 37% of the patients showed osteopenia (10/27) and 29.6% osteoporosis (8/27). When the comparison between exercising and non-exercising patients was performed, the only statistically significant difference that emerged was the median lumbar T-score value, which appeared lower in the group not performing physical activity (p = 0,009). CONCLUSIONS: The extensive cardiorespiratory evaluation, including CPET, of our cohort of spina bifida patients showed altered values of the main parameters related to cardiorespiratory fitness and is the only study in the literature that analysed bone mineralization values in physically active and sedentary spina bifida patients and demonstrated a statistically significant difference. Furthermore, it is the only study to date that investigated the possible association of congenital heart diseases with SD, without demonstrating the existence of pathological conditions.


Subject(s)
Neural Tube Defects , Osteoporosis , Spinal Dysraphism , Humans , Child , Adolescent , Young Adult , Adult , Spinal Dysraphism/complications , Physical Fitness , Bone Density , Osteoporosis/complications , Neural Tube Defects/complications , Leisure Activities
3.
Ital J Pediatr ; 49(1): 89, 2023 Jul 20.
Article in English | MEDLINE | ID: mdl-37475046

ABSTRACT

BACKGROUND: Down syndrome is a genetic disorder caused by trisomy of chromosome 21 and characterized by an increased risk of multiorgan involvement. In Down syndrome children, functional constipation and lower urinary tract infections have been described, together with higher risk for incontinence and delayed sphincter control. At present, to our knowledge, no clear association between Down syndrome, Bladder Bowel Dysfunction and neural tube defects has been previously described. CASE PRESENTATION: We describe two female patients with Down syndrome presenting Bladder Bowel Dysfunction in association with neural tube defects, who both underwent personalized multidisciplinary intervention and pelvic floor rehabilitation, with good clinical outcomes. CONCLUSION: At present, no screening program has been established in order to rule out neural tube defects or neurogenic urinary anomalies in Down syndrome patients presenting bowel and/or bladder dysfunction. In our opinion, presence of spinal abnormalities, despite rare, may be contribute to urinary symptoms and should be ruled out in patients presenting progressive or persistent Bladder Bowel Dysfunction. Early diagnosis and management of spinal cord defects associated with neurogenic urinary dysfunction may allow to prevent possible complications.


Subject(s)
Down Syndrome , Gastrointestinal Diseases , Neural Tube Defects , Urinary Incontinence , Child , Humans , Female , Urinary Bladder , Down Syndrome/complications , Urinary Incontinence/complications , Constipation , Neural Tube Defects/complications , Neural Tube Defects/diagnosis
4.
Int J Mol Sci ; 24(9)2023 May 05.
Article in English | MEDLINE | ID: mdl-37175968

ABSTRACT

The human bladder has been long thought to be sterile until that, only in the last decade, advances in molecular biology have shown that the human urinary tract is populated with microorganisms. The relationship between the urobiota and the development of urinary tract disorders is now of great interest. Patients with spina bifida (SB) can be born with (or develop over time) neurological deficits due to damaged nerves that originate in the lower part of the spinal cord, including the neurogenic bladder. This condition represents a predisposing factor for urinary tract infections so that the most frequently used approach to treat patients with neurogenic bladder is based on clean intermittent catheterization (CIC). In this study, we analyzed the urobiota composition in a pediatric cohort of patients with SB compared to healthy controls, as well as the urobiota characteristics based on whether patients received CIC or not.


Subject(s)
Intermittent Urethral Catheterization , Spinal Dysraphism , Urinary Bladder, Neurogenic , Urinary Tract Infections , Urinary Tract , Humans , Child , Urinary Bladder, Neurogenic/complications , Urinary Bladder, Neurogenic/therapy , Spinal Dysraphism/complications , Urinary Tract Infections/complications
5.
Front Pediatr ; 11: 1140349, 2023.
Article in English | MEDLINE | ID: mdl-37025287

ABSTRACT

Background: Developmental dysplasia of the hip (DDH) is a known orthopedic pathology of newborns that, if not diagnosed and treated, can lead to debilitating long-term consequences. Ultrasound has proven to be an effective method for the early diagnosis of this condition. Recently, reports of late DDH in populations at risk (breech presentation) and after negative ultrasound examination have emerged in the literature. Aim: The objective of the study was to assess the possible appearance of late DDH in Italian children with risk factors but negative ultrasound screening. Materials and methods: We selected patients with risk factors for DDH and a negative hip ultrasound from the medical records of children referred to the Hip Ultrasound Clinic (Rome, Italy) from January 2018 to November 2021. To identify possible cases of late DDH, from February 2022 to July 2022, all patients who met the inclusion criteria were submitted to orthopedic follow-up clinical evaluation. In the case of a pathological objective examination, radiography was performed. Results: Fifty-five patients (52.7% female, 52.7% with breech presentation, and 41.8% with a positive family history) met the inclusion criteria. The median age of gait onset was 13 months. The median age of orthopedic follow-up examination was 45 months. Only three patients (5.5%) had a pathological examination, but no x-ray were pathological. Conclusion: Our study has not documented cases of late DDH. Considering the small study population and the only clinical follow-up, further studies are needed to clarify the possible late development of this condition.

6.
Childs Nerv Syst ; 39(3): 633-645, 2023 03.
Article in English | MEDLINE | ID: mdl-36180597

ABSTRACT

PURPOSE: Gut microbiota has recently been recognized to be influenced by a broad range of pathologies. Alterations of gut microbiota are known as dysbiosis and have found to be related to chronic constipation, a condition which affects also pediatric patients with spina bifida (SB). METHODS: In this study, gut microbiota richness and composition were investigated by 16S rRNA sequencing and bioinformatic analysis in 48 SB patients (mean age, 11.9 ± 4.8 years) with secondary neurogenic constipation and 32 healthy controls (mean age, 18.0 ± 9.6 years). The study also aimed at exploring eventual effects of laxatives and transanal irrigation (TAI) adopted by SB subjects to get relief from the symptoms of neurogenic constipation. RESULTS: Collected data demonstrated that the microbiota richness of SB patients was significantly increased compared to healthy controls, with a higher number of dominant bacteria rather than rare species. The absence of SB condition was associated with taxa Coprococcus 2, with the species C. eutactus and Roseburia, Dialister, and the [Eubacterium] coprostanoligenes group. On the other hand, the SB patients displayed a different group of positively associated taxa, namely, Blautia, Collinsella, Intestinibacter, and Romboutsia genera, the [Clostridium] innocuum group, and Clostridium sensu stricto 1. Bifidobacterium and the [Eubacterium] hallii group were also found to be positively associated with SB gut microbiome. CONCLUSIONS: Among SB patients, the administration of laxatives and TAI did not negatively affect gut microbiota diversity and composition, even considering long-term use (up to 5 years) of TAI device.


Subject(s)
Gastrointestinal Microbiome , Neurogenic Bowel , Spinal Dysraphism , Humans , Child , Adolescent , Young Adult , Adult , Neurogenic Bowel/etiology , Neurogenic Bowel/therapy , Gastrointestinal Microbiome/genetics , RNA, Ribosomal, 16S/genetics , Laxatives , Spinal Dysraphism/complications , Constipation/complications
7.
Children (Basel) ; 11(1)2023 Dec 30.
Article in English | MEDLINE | ID: mdl-38255368

ABSTRACT

We aimed to investigate if children with their first UTI and a concomitant positive blood culture have a higher risk of abnormalities. We performed a retrospective study of children younger than 18 years of age with their first UTI. Multivariate logistic regression and receiver operating characteristic (ROC) curves were used to evaluate if positive blood cultures are associated with urinary abnormalities. After the screening process, we considered the enrolled 161 children with UTIs. The median age was three months, and 83 were females (43.2%). In multivariate analysis, age (p = 0.001, 95% CI 1.005-1.020), the presence of Pseudomonas aeruginosa or unusual germs in urine cultures (p = 0.002, 95% CI 2.18-30.36) and the positivity of blood cultures (p = 0.001, 95% CI 2.23-18.98) were significantly associated with urinary abnormalities. A model based on these parameters has an AUC of 0.7168 to predict urinary malformations (p = 0.0315). Conclusions include how greater age, a positive blood culture and the presence of Pseudomonas aeruginosa or unusual germs in urine culture in children hospitalised for their first episode of a UTI are factors associated with a significantly higher risk of urinary abnormalities. These data can guide the implementation of more personalized strategies to screen for urinary abnormalities that may be included in future guidelines.

8.
Children (Basel) ; 9(11)2022 Oct 28.
Article in English | MEDLINE | ID: mdl-36360375

ABSTRACT

Introduction: There is marked heterogeneity in clinicians' choice of antibiotic duration for pediatric urinary tract infections (UTIs). Most patients with bacterial UTIs still receive between 7 and 10 days of antibiotics. Prolonged antibiotic exposure drives the emergence of resistance and increases the occurrence of adverse effects. There is increasing evidence that shorter antibiotic regimens may be equally effective compared with longer ones. However, studies evaluating shorter therapies in children hospitalized with urinary tract infections have not yet been performed. Methods: We performed a retrospective study comparing children hospitalized with UTIs treated with a short antibiotic (<7 days) or standard antibiotic treatment. The primary aim of our study was to assess the efficacy of a shorter antibiotic therapy for children with UTIs, compared with an historical group of children treated with a standard 7−14 days course. Results: 112 patients, 46 of which were females (41.1%) with a median age 6 months were enrolled. A total of 33 patients (29.5%) underwent a short therapy. All patients were successfully discharged from the acute episode, independently from antibiotic duration. Short therapy was associated with a lower risk of urinary tract relapse (22 relapses (95.6%) in the standard group, 1 (4.4%) in the short group; OR 0.081; 95%CI 0.01−0.63). Conclusions: Short antibiotic therapy was equivalent to standard duration therapy for the cure of UTIs in hospitalized children and was also associated with a lower rate of recurrences. This study provides the basis for a larger prospective randomized study to address the role of short antibiotic therapies in children with UTIs requiring hospitalization

9.
J Clin Sleep Med ; 18(9): 2143-2154, 2022 09 01.
Article in English | MEDLINE | ID: mdl-35645039

ABSTRACT

STUDY OBJECTIVES: The main aim was to evaluate the prevalence of sleep-disordered breathing (SDB) in patients with Chiari II malformation (CM-II). The secondary objectives were to evaluate the association between SDB, morphological abnormalities, and neurological symptoms and to review the literature on patients with SDB and CM-II. METHODS: The study has a cross-sectional, case-control design. Patients with CM-II (patients) were compared to control patients referred for clinical polysomnography in the Sleep Medicine Unit, matched for age and sex. All patients underwent brain and spinal cord magnetic resonance imaging, and polysomnography was conducted for all participants. A review of the literature about SDB in patients with CM-II was performed. RESULTS: Forty patients were included (20 patients vs 20 control patients). SDB was identified in 45% of patients, a significantly higher prevalence compared to control patients. Three patients presented with purely obstructive SDB, 3 patients with purely central SDB, and 3 patients with both obstructive and central SDB. Compared with control patients, patients with CM-II showed a higher oxygen desaturation index (median: CM-II, 3.7; interquartile range, 1.6-19.5; control patients: 1.1; interquartile range, 0.3-3.2) and obstructive apnea-hypopnea index (median: CM-II, 1.5; interquartile range, 0.5-5.1; control patients, 0.1; interquartile range, 0.0-0.7). A logistic regression showed that the risk of developing SDB in patients affected by CM-II was 14.7 times higher than in the control population. CONCLUSIONS: Our study and literature review showed a high prevalence of SDB in patients with CM-II. These patients are often asymptomatic at diagnosis, suggesting that PSG should be routinely provided in this population. CITATION: Lazzareschi I, Curatola A, Massimi L, et al. Sleep-disordered breathing in patients with Chiari malformation type II: a case-control study and review of the literature. J Clin Sleep Med. 2022;18(9):2143-2154.


Subject(s)
Arnold-Chiari Malformation , Sleep Apnea Syndromes , Arnold-Chiari Malformation/complications , Arnold-Chiari Malformation/epidemiology , Case-Control Studies , Cross-Sectional Studies , Humans , Polysomnography/methods , Sleep Apnea Syndromes/complications , Sleep Apnea Syndromes/diagnosis , Sleep Apnea Syndromes/epidemiology
10.
Clin Genet ; 101(4): 454-458, 2022 04.
Article in English | MEDLINE | ID: mdl-35038173

ABSTRACT

Costello syndrome (CS) is a rare disorder affecting development and growth characterized by cancer predisposition and caused by mutations in HRAS proto-oncogene. Somatic HRAS mutations drive bladder carcinogenesis. The aim of this study was to analyze prevalence and histological characterization of bladder cancer (BC) in a cohort of patients with CS to help clinicians plan effective management strategies. This study included 13 patients above 10 years of age with molecular diagnosis of CS. Screening cystoscopies (31 total procedures) were performed to exclude BC. Any lesion was analyzed through cold-cup biopsy or trans-urethral resection of the bladder. According to histology, patients were followed-up with urinalysis and abdominal ultrasound yearly, and cystoscopies every 12-24 months. During study enrollment, bladder lesions (often multifocal) were detected in 11/13 patients. Histological analysis documented premalignant lesions in 90% of cystoscopies performed, epithelial dysplasia in 71%, and papillary urothelial neoplasm of low-malignant potential in 19%. BC G1/low grade (Ta) were removed in 10%. Overall, 76% of patients showed a bladder lesion at first cystoscopy. The present findings document that individuals with CS aged 10 years and older have high prevalence of bladder lesions (premalignant/malignant), highlighting the importance of personalized screening protocols.


Subject(s)
Costello Syndrome , Urinary Bladder Neoplasms , Child , Clinical Decision-Making , Costello Syndrome/diagnosis , Costello Syndrome/epidemiology , Costello Syndrome/genetics , Female , Humans , Male , Mutation , Prevalence , Urinary Bladder Neoplasms/diagnosis , Urinary Bladder Neoplasms/epidemiology , Urinary Bladder Neoplasms/genetics
11.
Acta Biomed ; 92(6): e2021341, 2022 01 19.
Article in English | MEDLINE | ID: mdl-35075085

ABSTRACT

BACKGROUND AND AIM: Functional constipation (FC) represents 95% of pediatric constipation cases. The aim of this study was to assess the prevalence of Functional Constipation in children admitted to Pediatric Emergency Department (ED) with acute abdominal pain, the demographic factors associated, the use of imaging exams and laboratory tests. METHODS: A retrospective observational study was conducted on 4100 medical records of children aged 0 to 18 years. RESULTS: Among children with abdominal pain, 11.3% of them had a discharge diagnosis of constipation and 45.5% underwent imaging exams. Most of children (93.9%) were discharged with home therapy and 6.5% of patients needed of additional visits. In ED 6.7% of patients underwent enema, 45.2% were discharged with indication to perform it at home. CONCLUSIONS: FC is a medical condition that could be managed in the outpatient setting, even if we observed a significant percentage of cases in ED. We observed over-utilization of radiologic tests, whereas the diagnosis should be clinical.


Subject(s)
Constipation , Emergency Service, Hospital , Child , Constipation/diagnosis , Constipation/epidemiology , Constipation/therapy , Enema , Hospitalization , Humans , Retrospective Studies
12.
Childs Nerv Syst ; 38(3): 605-610, 2022 03.
Article in English | MEDLINE | ID: mdl-34523011

ABSTRACT

INTRODUCTION: Spinal dysraphism (SD) is a general term used to refer to developmental abnormalities of the spine that involves many clinical conditions including myelomeningocele (MMC). In these patients, neurogenic bladder (NB) is a common and predisposing factor for renal damage; the most frequently used approach to manage this situation is based on clean intermittent catheterization (CIC) and anticholinergic drugs. Urinary tract infections (UTIs) are a significant concern for these patients, and antibiotic prophylaxis is frequently used even if it is still a debated topic of literature. The purpose of this paper is to investigate the role and the real effectiveness of antibiotic prophylaxis in the reduction of incidence of UTIs in patients with spina bifida performing CIC. METHODS: We collected data of all patients performing CIC, who did their last follow-up visit in the period between January 2019 and January 2021, followed at the children multidisciplinary Spina Bifida Center of A. Gemelli Hospital in Rome. Data collected included age at referral, gender, type of SD lesion, serum creatinine and cystatin C levels, the use of anticholinergic medications, antibiotic prophylaxis and type of prophylaxis (oral/endovesical), age of starting prophylaxis with its duration/adherence, number of CIC/day and its duration, episodes of UTIs in the 2 years prior to the last follow-up, and presence and grade of vesical-ureteric reflux (VUR) on cystourethrogram. RESULTS: A total of 121 patients with SD performing CIC was included in the study; 66 (54%) presented ≥ 1 episode of UTIs in the last two years and 55 (46%) none. During the study period, 85 (70%) patients received antibiotic prophylaxis (ABP group) and 36 (30%) did not (NABP group): no statistically significative difference in terms of UTI development was observed between the two groups (p = 0.17). We also evaluated compliance to the therapy; 71 patients (59%) took antibiotic prophylaxis constantly (CABP group) and 50 (41%) did not do antibiotic prophylaxis constantly or did not do antibiotic prophylaxis at all (NCABP group): we observed a statistically significative difference in terms of UTIs with a 2.2 times higher risk of development at least one episode of UTIs in NCABP group. CONCLUSION: In conclusion, antibiotic prophylaxis performed constantly, without interruption, is associated with a lower risk of developing urinary tract infections and consequently to develop renal failure in adulthood.


Subject(s)
Intermittent Urethral Catheterization , Spinal Dysraphism , Urinary Bladder, Neurogenic , Adult , Antibiotic Prophylaxis , Child , Child, Preschool , Humans , Intermittent Urethral Catheterization/adverse effects , Retrospective Studies , Spinal Dysraphism/complications , Spinal Dysraphism/therapy , Urinary Bladder, Neurogenic/complications , Urinary Bladder, Neurogenic/therapy
13.
Pediatr Med Chir ; 43(1)2021 May 07.
Article in English | MEDLINE | ID: mdl-33960759

ABSTRACT

Constipation and fecal incontinence in pediatric patients are conditions due to either functional or organic bowel dysfunction and may represent a challenging situation both for parents, pediatricians, and pediatric surgeons. Different treatments have been proposed throughout the past decades with partial and alternant results and, among all proposed techniques, in the adult population the Transanal Irrigation (TAI) has become popular. However, little is known about its efficacy in children. Therefore, a group of Italian pediatric surgeons from different centers, all experts in bowel management, performed a literature review and discussed the best-practice for the use of TAI in the pediatric population. This article suggests some tips, such as the careful patients' selection, a structured training with expert in pediatric colorectal diseases, and a continuous follow-up, that are considered crucial for the full success of treatment.


Subject(s)
Anal Canal , Therapeutic Irrigation , Adult , Child , Consensus , Humans , Italy , Treatment Outcome
14.
Childs Nerv Syst ; 37(8): 2589-2596, 2021 08.
Article in English | MEDLINE | ID: mdl-33855610

ABSTRACT

PURPOSE: Neural tube defects are a group of birth defects caused by failure of neural tube closure during development. The etiology of NTD, requiring a complex interaction between environmental and genetic factors, is not well understood. METHODS: We performed whole-exome sequencing (WES) in six trios, with a single affected proband with spina bifida, to identify rare/novel variants as potential causes of the NTD. RESULTS: Our analysis identified four de novo and ten X-linked recessive variants in four of the six probands, all of them in genes previously never implicated in NTD. Among the 14 variants, we ruled out six of them, based on different criteria and pursued the evaluation of eight potential candidates in the following genes: RXRγ, DTX1, COL15A1, ARHGAP36, TKTL1, AMOT, GPR50, and NKRF. The de novo variants where located in the RXRγ, DTX1, and COL15A1 genes while ARHGAP36, TKTL1, AMOT, GPR50, and NKRF carry X-linked recessive variants. This analysis also revealed that four patients presented multiple variants, while we were unable to identify any significant variant in two patients. CONCLUSIONS: Our preliminary conclusion support a major role for the de novo variants with respect to the X-linked recessive variants where the X-linked could represent a contribution to the phenotype in an oligogenic model.


Subject(s)
Neural Tube Defects , Spinal Dysraphism , Exome/genetics , Genetic Predisposition to Disease , Humans , Neural Tube Defects/genetics , Phenotype , Spinal Dysraphism/genetics , Exome Sequencing
15.
Ital J Pediatr ; 47(1): 29, 2021 Feb 12.
Article in English | MEDLINE | ID: mdl-33579344

ABSTRACT

BACKGROUND: Suspending ordinary care activities during the COVID-19 pandemic made it necessary to find alternative routes to comply with care recommendations not only for acute health needs but also for patients requiring follow-up and multidisciplinary visits. We present the 'Contactless' model, a comprehensive operational tool including a plurality of services delivered remotely, structured according to a complexity gradient, aimed to cover diagnostic procedures and monitor disease progression in chronic pediatric patients. METHODS: A multidisciplinary and multiprofessional project team was recruited, in collaboration with patients' associations, to map a panel of available Evidence-Based solutions and address individual needs in full respect of the concept of personalized medicine. The solutions include a number of services from videoconsultations to more structure videotraining sessions. RESULTS: A modular framework made up of four three Macro-levels of complexity - Contactless Basic, Intermediate and Advanced - was displayed as an incremental set of services and operational planning establishing each phase, from factors influencing eligibility to the delivery of the most accurate and complex levels of care. CONCLUSION: The multimodal, multidisciplinary 'Contactless' model allowed the inclusion of all Units of our Pediatric Department and families with children with disability or complex chronic conditions. The strengths of this project rely on its replicability outside of pediatrics and in the limited resources needed to practically impact patients, caregivers and professionals involved in the process of care. Its implementation in the future may contribute to reduce the duration of hospital admissions, money and parental absence from work.


Subject(s)
COVID-19/epidemiology , Delivery of Health Care/organization & administration , Disabled Children , Models, Organizational , Pediatrics/organization & administration , Telemedicine/organization & administration , Child , Chronic Disease , Humans , Pandemics , Program Development
16.
J Ultrasound ; 24(4): 403-410, 2021 Dec.
Article in English | MEDLINE | ID: mdl-32356221

ABSTRACT

AIMS: Developmental dysplasia of the hip is an important cause of disability in children and young adult and it also has a significant socio-economic impact in our society. The main objective of our study is to evaluate, in our hospital, the effectiveness of a universal ultrasound screening protocol and to assess the general knowledge about the theme of pediatricians and neonatologists. METHODS: Retrospective study of infants born from January 2016 to April 2019, evaluated with hip ultrasound (Graf method). Risk factors assessed were female gender, breech presentation at birth, positive family history and twin birth. For the secondary objective, an anonymous and validated questionnaire was distributed to all pediatricians and neonatologists. RESULTS: Among the 4000 hips analyzed, on ultrasound examination, 98.8% hips resulted mature or immature but appropriate for age, while 1,2% hips were pathological. Analyzing the mature or immature hips, 2,4% were positive on clinical examination and 97,6% were negative. In relation to ultrasound pathological hips, 33,3% have positive clinical examination, while 66,7% negative. From the analysis of risk factors a significant association emerged between female sex, breech presentation and family history with the ultrasound pathological findings. The results of Survey showed that inadequate training about developmental dysplasia of the hip is done during medical school. CONCLUSIONS: A universal ultrasound screening allowed us to identify developmental dysplasia of the hip in a number of children with normal clinical examination and no risk factors. Specific training courses should be implemented regarding Developmental Dysplasia of the Hip for neonatologists and pediatricians.


Subject(s)
Developmental Dysplasia of the Hip , Hip Dislocation, Congenital , Child , Female , Hip Dislocation, Congenital/diagnostic imaging , Hip Dislocation, Congenital/epidemiology , Humans , Infant , Infant, Newborn , Neonatal Screening , Pregnancy , Retrospective Studies , Ultrasonography
17.
Childs Nerv Syst ; 36(9): 2083-2088, 2020 09.
Article in English | MEDLINE | ID: mdl-32274529

ABSTRACT

Nerve growth factor (NGF) is a neurotrophin that promotes neural recovery and plasticity after experimental brain injury, supporting neuronal growth, differentiation, and survival of brain cells. Only a few studies reported NGF administration in pediatric patients with impaired brain functions after traumatic injuries, ischemic or infectious diseases, such as meningitis. We described the beneficial therapeutic effects of human-recombinant nerve growth factor (hr-NGF) treatment in an infant with persistent unresponsive wakefulness syndrome (UWS), due to late-onset group B Streptococcus meningitis. The infant received five monthly cycles of intranasal hr-NGF (0.1 mg/kg, 3 times daily for 7 consecutive days) through a mucosal atomizer device (MAD). NGF administration improved functional [positron emission tomography/computed tomography (PET/CT), single-photon emission/computed tomography (SPECT/CT), and magnetic resonance imaging (MRI)] assessments, electrophysiological [Electroencephalogram (EEG)] studies, as well as main cognitive processes and clinical and neurological functions. After hr-NGF treatment, significant improvements in facial mimicry, attention, motor reactions, oral motility, and feeding capacity were observed. She also recovered some hypothalamic functions and her cough reflex was restored. No side effects were reported during and after the treatment. For the first time ever, hr-NGF has been successfully utilized in an infant with UWS and severe neurologic outcome due to a bacterial meningitis. Although further studies are needed for better understanding the neuroprotective role of this neurotrophin, intranasal hr-NGF administration appears to be a promising and save rescuing strategy treatment in infants with severe neurological impairment after brain damage.


Subject(s)
Meningitis , Nerve Growth Factor , Administration, Intranasal , Child , Electroencephalography , Female , Humans , Infant , Positron Emission Tomography Computed Tomography
18.
Childs Nerv Syst ; 36(7): 1515-1520, 2020 07.
Article in English | MEDLINE | ID: mdl-31863149

ABSTRACT

PURPOSE: The aim of this prospective, analytic study is to evaluate if dietary approach can improve the body mass index (BMI) in a total of N = 152 patients with SB. METHODS: BMI levels were evaluated stratifying patients by gender and age classes. Patients with BMI ≥ 25 have been randomized (1:1) in two groups: the "diet" group that received a dietary program and the "no diet" group that did not receive any program. Patients have been observed at the beginning of the study (T0), and again at the end of the study, 1 year later (T1). The main objective of the study was to evaluate BMI score in SB patients and how it could be influenced by dietary changes. RESULTS: A total of 36.8% patients were classified as overweight or obese. Females present a mean BMI level higher than male, and patients older than 20 years old present the highest mean BMI. The "diet" group BMI decreased from 29.7 (± 3.8) to 27.7 (± 3.7) during the year of program. The mean BMI in the "no diet" group decreased from 30.3 (± 4.6) to 29.2 (± 4.7). There was a statistically significant difference in BMI level between groups (p < 0.0005). There was a statistically significant effect of time on BMI levels for the "diet program" group (p = 0.001), and there was NOT a statistically significant effect of time on BMI levels for the "no diet group" (p = 0.053). CONCLUSIONS: Spina Bifida population has high risk of obesity which is related to other comorbidities such as diabetes and hypertension for example. Specific dietary program, since pediatric age, correlates with an improvement of quality of life, a reduction of BMI and of risk of related diseases with obesity. This study confirms that the transition to adulthood marks the beginning of the overweight status for many SB patients, but it also demonstrates that, following a dietary program, even disabled patients with limited training capabilities can achieve a BMI reduction.


Subject(s)
Quality of Life , Spinal Dysraphism , Adult , Body Mass Index , Child , Diet , Female , Humans , Male , Obesity/complications , Obesity/epidemiology , Prospective Studies , Spinal Dysraphism/epidemiology , Spinal Dysraphism/prevention & control , Young Adult
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