[show abstract][hide abstract] ABSTRACT: : To report the feasibility and safety of a robotic-assisted laparoscopic pyeloplasty (RALP) in patients weighing <10 kg.
Three patients weighing between 5 and 8 kg who were affected by severe congenital ureteropelvic junction obstruction, including a child with solitary kidney, were subjected to RALP. Three trocars were placed; sutures and pyeloplasty remodeling were performed with interrupted stitches. A double J stent was inserted through a 2-mm transparietal angiocatheter to protect the pyelic suture.
The procedures were all completed within 90 minutes, the "docking" time requiring 20 minutes. The patients were discharged on postoperative day 2, without any complications.
Comprehensive assessment of pyelic suture in a very narrow field with 2 operative instruments is feasible and safe. Robotic pyeloplasty provides all the advantages of mini-invasive surgery with the added advantage of higher magnification and excellent surgical navigation in very small spaces and on fragile infant tissues.
[show abstract][hide abstract] ABSTRACT: Abstract Background: An increased relative risk of diabetes, ischemic heart disease, atherosclerosis, and hypertension have been reported in Turner syndrome (TS) patients. No data are currently available on the prevalence of metabolic syndrome in TS subjects. We evaluated the frequency of metabolic syndrome in obese and nonobese patients with TS. Patients and Methods: We evaluated 85 TS patients (27.05±11.17 years). Obesity was defined as standard deviation score body mass index (SDS-BMI) ≥2 or BMI ≥30 kg/m(2) in adult patients. We classified metabolic syndrome according to the International Diabetes Federation (IDF). Hepatic ultrasound was performed in all girls. Results: The prevalence of metabolic syndrome was 4.7% (12.5% obese and 4.3% nonobese, P=0.16) and associated with visceral adiposity (P=0.008). Abnormalities in glucose metabolism and hypertension were not associated with genetic or therapeutic factors. The karyotype 45,X was associated with atherogenic profile. Pathological waist circumference was more frequent in girls treated with estro-progestin (P=0.03). Evidence of fatty liver was associated with metabolic syndrome (P=0.03) and insulin resistance (P=0.05). Elevated liver enzymes were found in 15 subjects and were not related to treatment or ultrasound abnormalities. Conclusions: Prevalence of each component of metabolic syndrome in TS patients is partially influenced by genetic makeup and treatment. Hepatosteatosis was associated with metabolic syndrome and insulin resistance, but not to elevated liver enzymes.
[show abstract][hide abstract] ABSTRACT: Kasabach-Merritt syndrome (KMS) is a life-threatening disease. We describe a combined medical and multistep, endovascular embolization that was successfully performed with surgery.
A 40-day-old female baby was referred because of an infiltrating pelvic mass. Blood tests showed severe anemia and thrombocytopenia with consumptive coagulopathy. The clinical aspect was pathognomonic for KMS. Administration of steroids and chemotherapy were started and coagulation parameters were normalized with tumor volume regression. Three months later, elective surgical treatment became possible, and dissection and ligature of the left internal iliac artery and sacral artery were performed. The main arterial supply of the mass was embolized with Spongostan®. Two months later, a second hybrid approach was adopted for embolization of the main vascular supply of the tumor occupying the left thigh. Via a third contralateral hybrid femoral approach and under fluoroscopy, selective catheterization of the left profunda femoris artery was performed. The arterial feeder of the tumor, localized at the left gluteus, was seen on a CT scan 2 months later and was embolized with Onyx-18.
Chemotherapy and a tailored hybrid approach comprising repeated endovascular embolizations seem to be a safe treatment in cases of unresectable and life-threatening tumors in small babies.
[show abstract][hide abstract] ABSTRACT: What is the burden of X chromosome mosaicism in the occurrence of spontaneous menarche (SM) in Turner syndrome (TS)?
SM was significantly associated with X chromosome mosaicism in the TS patients; a mosaicism with around 10% euploid cell line may predict spontaneous pubertal development when determined by molecular-cytogenetic techniques on uncultivated tissues.
Spontaneous puberty can be observed in a minority of patients with TS, more frequently, but not exclusively, in those with a high level of 46,XX/45,X mosaicism at standard karyotype. The genetic mechanisms contributing to ovarian function in TS patients are still not determined. However, submicroscopic X-linked and autosomal copy number variations (CNVs) have recently emerged as an important genetic risk category for premature ovarian insufficiency and may be involved in modulating the TS ovarian phenotype.
A group of 40 patients with a diagnosis of TS at conventional karyotyping participated in the study; 6 patients had SM and 34 patients had primary amenorrhoea (PA). All clinical data and the patients' DNA samples were collected over the years at a single paediatric clinic.
The patients' samples were used to perform both genetic (Copy Number Assay) and molecular-cytogenetic (array-CGH and iFISH, interphase-FISH) analyses in order to evaluate the X chromosome mosaicism rate and to detect possible rare CNVs of genes with a known or predicted role in female fertility.
All TS patients showed variable percentages of the 46,XX lineage, but these percentages were higher in the SM group (P < 0.01). A mosaicism around 10% for the euploid cell line may predict spontaneous pubertal development when determined by molecular-cytogenetic techniques performed in uncultivated tissues. A few CNVs involving autosomal and X-linked ovary-related loci were identified by array-CGH analysis and confirmed by real-time quantitative PCR, including a BMP15 gene duplication at Xp11.22, a deletion interrupting the PAPPA gene at 9q33.1, and an intragenic duplication involving the PDE8A gene at 15q25.3.
This is a pilot study on a relatively small sample size and confirmation in larger TS cohorts may be required. The ovarian tissue could not be studied in any patients and in a subgroup of patients, the mosaicism was estimated in tissues of different embryonic origin.
The combined determination of X chromosome mosaicism by molecular and molecular-cytogenetic techniques may become useful for the prediction of SM in TS. The detection of CNVs in both X-linked and autosomal ovary-related genes further suggests gene dosage as a relevant mechanism contributing to the ovarian phenotype of TS patients. These CNVs may pinpoint novel candidates relevant to female fertility and generate further insights into the mechanisms contributing to ovarian function.
This study was funded by Telethon Foundation (grant no: GGP09126 to L.P.), the Italian Ministry of the University and Research (grant number: 2006065999 to P.F.) and a Ministry of Health grant 'Ricerca Corrente' to IRCCS Istituto Auxologico Italiano (grant number: 08C704-2006). The authors have no conflict of interest to declare.
[show abstract][hide abstract] ABSTRACT: Tubercular spinal localization is very rare (5%) in paediatric age. We report the unusual case of a child with a history of bacillus Calmette-Guerin vaccination who presented with lymphadenitis in the absence of pulmonary involvement. Despite appropriate anti-tubercular therapy, the patient developed spinal tuberculosis with cord compression. Urgent surgical decompression was performed: laminectomy was done at D3-D5 levels and the higher abscess was then flushed using a catheter, decompressing the cauda equina. Our findings suggest that diagnosis of tuberculosis should be considered even in light of anamnestic vaccination at birth, and that surgical treatment should be rapidly provided in the event of spinal cord compression to avoid devastating sequelae.
Le infezioni in medicina: rivista periodica di eziologia, epidemiologia, diagnostica, clinica e terapia delle patologie infettive 09/2013; 21(3):220-3.
[show abstract][hide abstract] ABSTRACT: Introduction: Gut and adipose tissue hormones play an important role in energy balance control, particularly through the regulation at either short- or long-term food intake after bariatric surgery. Case: A 15-year-old obese female (BMI 42.2) who was unresponsive to medical treatment underwent gastroplication. Hunger hormone levels (leptin, ghrelin and insulin), weight loss and eating behavior were monitored at 3, 6 and 12 months after surgery. Results: Weight loss was obtained, progressively achieving a loss of 45.6 kg 1 year after surgery. A strong reduction in insulin concentration and insulin resistance was documented. At 3 months after the operation, a surprising leptin level drop was observed. During the following months a progressive increase in leptin levels and leptin/kg of fat mass were documented. Fasting ghrelin levels increased in the first 3 months, then fell over the next 6 months. Up to 6 months after gastroplication, we observed a less marked drop in plasma ghrelin after meal ingestion, while the values after 1 year showed a substantial fall in the postprandial period despite a further fasting ghrelin increased level. Early achievement of satiety was found. Conclusion: Hunger hormones level changes seem to be involved in weight loss and eating behavior after gastroplication in adolescents.
Hormone Research in Paediatrics 08/2013; · 1.55 Impact Factor
[show abstract][hide abstract] ABSTRACT: Turner syndrome, a chromosomal disorder caused by partial or complete absence of one of the two X chromosomes, is characterized by an increased incidence (compared with that in the normal population) of either autoimmune disorders, including chronic inflammatory bowel diseases, or angiodysplasia of the small intestine. Because ultrasonography and color Doppler ultrasound are widely used to investigate gastrointestinal disorders, we decided to carry out an ultrasound-based screening study in patients with Turner syndrome to determine whether this method might be useful in the follow-up of this population.
[show abstract][hide abstract] ABSTRACT: Background/Aims: The role of birth weight on growth hormone (GH) therapy response in GH-deficient (GHD) children has not been fully elucidated. Therefore, we examined the growth of 23 small-for-gestational-age GHD children (SGA-GHD, 11 females and 12 males), 26 appropriate-for-gestational-age GHD children (AGA-GHD, 11 females and 15 males) during the first 5 years of GH therapy and that of 22 non-GH-treated SGA children (12 females and 10 males). Methods: We collected height and height velocity measurements yearly. Results: In AGA-GHD children, height was always greater than in the SGA groups and significantly increased from the fourth year of treatment. Height velocity was higher (SGA-GHD: 1.72 ± 0.30 standard deviation score, SDS, AGA-GHD: 2.67 ± 0.21 SDS; p = 0.039) in AGA-GHD children during the first year of treatment. The AGA-GHD group showed the highest percentage (52.4%) of subjects surpassing mid-parental height and the greatest height gain after 5 years of follow-up. Conclusion: Our results show that birth size is an important factor affecting the response to GH therapy in GHD children during the first 5 years of treatment. The paediatric endocrinologist should be aware of this factor when planning the management of GHD children born SGA.
Hormone Research in Paediatrics 04/2013; · 1.55 Impact Factor
[show abstract][hide abstract] ABSTRACT: INTRODUCTION: Norovirus infection with necrotizing enterocolitis has so far been reported as a specific tropism of the small bowel in premature newborns. CASE PRESENTATION: Three cases of premature newborns presenting with extensive isolated colonic ischemia due to norovirus infection are reported.Patient 1 was a Caucasian girl with a gestational age of 29+2 weeks. She had sudden onset of abdominal distension on the 30th day of life. Radiological signs of colonic pneumatosis were present 48 hours before perforation and stool analysis was positive for norovirus. On the 34th day, free air was detected on plain abdominal X-ray. At laparotomy, stenosis, necrosis and perforations involved the whole colon. The patient underwent ileostomy. A large colon resection and ileosigmoid anastomosis were done 3 months later.Patient 2 was a Caucasian boy with a gestational age of 28+3 weeks. On the 19th day, bloody stools with abdominal distension appeared. Stool analysis resulted positive for norovirus. A plain abdominal X-ray showed distended bowel loops. Antibiotic treatment was started. On the 32nd day due to the progressive deterioration of clinical conditions and the appearance of colic pneumatosis, a laparotomy was performed. Severe damage of the transverse colon and multiple areas of necrosis were found. Terminal ileostomy was performed. Six months later surgery consisted of mid-transverse colon resection as far as the splenic flexure, colocolic anastomosis and closure of ileostomy.Patient 3 was a Caucasian boy with a gestational age of 30 weeks. On the 44th day bloody-mucous stools appeared and stool analysis was positive for norovirus infection. Even with institution of antibiotic therapy clinical abdominal radiologic signs of colonic pneumatosis of the upper right quadrant were found. At the 70th day an explorative laparotomy showed dilated bowel loops and stenotic right colon and ileostomy was mandatory. Partial colectomy was later necessary and ileocolic anastomosis was performed. CONCLUSION: We hypothesize that norovirus infection may be responsible for severe, distinctive colonic lesions, even in premature newborn infants.
Journal of Medical Case Reports 04/2013; 7(1):108.
[show abstract][hide abstract] ABSTRACT: Introduction. The circulation of infectious diseases puts small infants too young to be vaccinated at risk of morbidity and mortality, often requiring prolonged hospitalization. Material and Methods. We have reviewed the medical records of children not eligible for vaccination because of age, admitted to hospital for pertussis, measles, or varicella from February 1, 2010, till February 1, 2012. Results. Of the case records scrutinized, 21 were hospitalized for pertussis, 18 for measles, and 32 for varicella. Out of them, 42%, 66%, and 78% diagnosed with, respectively, pertussis, measles, and varicella had a complicated course of the disease. Discussion. To avoid infectious disease circulation, childhood immunization strategies should be adopted, such as vaccination of healthcare givers, adult household contacts, and parents planning to have, or who have had, a newborn baby.
[show abstract][hide abstract] ABSTRACT: Abstract A 12.5-year-old Italian girl was referred to our institute for progressive growth failure from the age of 6 years, with a height of 128.2 cm (-3.37 SDS) and a bone age of 9 years. Endocrinological evaluation revealed a partial growth hormone deficiency (GHD) and GH therapy was started at a dosage of 0.25 mg/kg/week. During the first 3 years, she showed an increase in growth rate and experienced pubertal development onset. Then a poor growth rate (2 cm/year=0.43 SDS) was observed, notwithstanding an increase in GH dosage (0.35 mg/kg/week) and good compliance. We found a positive anti-GH antibody titre (1:1850, cutoff 1/100), confirmed 6 months later (1:2035); the antibodies had low binding capacity (0.63 μg/mL) and were only partially capable of inhibiting the GH effect. However, GH treatment was discontinued, and after 3 months the antibody titre decreased (1:950). In conclusion, we suggest evaluation of anti-GH antibodies in GH-treated idiopathic GHD children in whom growth response decreases after some years of therapy.
[show abstract][hide abstract] ABSTRACT: 3-M syndrome is a rare autosomal recessive disorder that causes short stature, unusual facial features and skeletal abnormalities. Mutations in the CUL7, OBSL1 and CCDC8 genes could be responsible for 3-M syndrome.Here we describe the growth and evolution of dismorphic features of an Italian boy with 3-M syndrome and growth hormone deficiency (GHD) from birth until adulthood. He was born full term with a very low birth weight (2400 g=-3.36 standard deviation score, SDS) and length (40.0 cm =-6.53 SDS). At birth he presented with a broad, fleshy nose with anteverted nostrils, thick and patulous lips, a square chin, curvilinear shaped eyebrows without synophrys, short thorax and long slender bones. Then, during childhood tall vertebral bodies, hip dislocation, transverse chest groove, winged scapulae and hyperextensible joints became more evident and the diagnosis of 3-M syndrome was made; this was also confirmed by the finding of a homozygous deletion in exon 18 of the CUL7 gene, which has not been previously described.The patient also exhibited severe GHD (GH <5 ng/ml) and from the age of 18 months was treated with rhGH. Notwithstanding the early start of therapy and good compliance, his growth rate was always very low, except for the first two years of treatment and he achieved a final height of 132 cm (-6.42 SDS).
[show abstract][hide abstract] ABSTRACT: Lipoblastoma is a rare benign soft tissue tumor encountered almost exclusively in infancy and early childhood. The location of tumors varies, but most occur in the extremities, trunk, head and neck. Less frequently, lipoblastomas have been reported in the mediastinum, the retroperitoneum and the inguinal region. Only 7 cases of lipoblastoma in the scrotum have been reported so far in the English literature, with none of the patients older than 8. We report an intrascrotal lipoblastoma in a 10 year-old boy. The differential diagnosis is discussed with reference to the literature.
[show abstract][hide abstract] ABSTRACT: Objective. To describe a biochemical growth hormone (GH) deficiency and to evaluate therapeutic result in a six-year-old male with Becker muscular dystrophy (BMD). Methods. GH peak was evaluated after response to arginine and insulin. Bone age was evaluated according to Greulich and Pyle method. Results. The GH-supplementary therapy was very effective in terms of growth gain. Conclusion. The possibility of a growth hormone deficiency and treatment with GH in patients with BMD cannot be excluded, especially considering the good therapeutic response.
Case reports in endocrinology. 01/2013; 2013:684249.