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1.
Urol Int ; 104(11-12): 884-890, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32894858

RESUMO

PURPOSE: Undetected refluxing venous systems could cause persistence/recurrence of varicoceles in patients undergoing varicocelectomy. Color Doppler ultrasound (CDUS) is an important tool in the diagnosis and follow-up of varicocele, and could be successfully used to detect a venous reflux in the iliac-deferential district, usually involved in the recurrence/persistence of varicocele. MATERIALS AND METHODS: We compared 2 historical series of patients treated with Palomo laparoscopic varicocelectomy between 1994 and 2018. In group 1, preoperative scrotal CDUS was obtained, while in group 2, additional inguinal CDUS was performed in order to detect a refluxing deferential vein (DV). When a deferential reflux was found, the DV and internal spermatic vein were interrupted during the same Palomo laparoscopic varicocelectomy. RESULTS: A total of 449 patients underwent left laparoscopic varicocelectomy; 146 of them were not studied for deferential reflux with CDUS (group 1), while in the remaining 303, routine CDUS research of deferential reflux was obtained (group 2). The persistence/recurrence rate was significantly higher in group 1 (13.7 vs. 1%, p < 0.000). CONCLUSIONS: The research of a refluxing DV revealed a useful, cost-effective, and simple tool, allowing a better comprehension of the vascular anatomy of varicocele and, thus, a significant reduction of varicocele persistence/recurrence rate.


Assuntos
Laparoscopia , Ultrassonografia Doppler em Cores , Varicocele/diagnóstico por imagem , Varicocele/cirurgia , Adolescente , Criança , Virilha , Humanos , Masculino , Recidiva , Estudos Retrospectivos , Escroto , Resultado do Tratamento , Ultrassonografia Doppler em Cores/métodos , Procedimentos Cirúrgicos Urológicos Masculinos/métodos
2.
Pediatr Surg Int ; 35(1): 167-174, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30374633

RESUMO

PURPOSE: Solitary functioning kidney (SFK) may be associated to hypertrophy, hypertension and chronic kidney disease. We evaluated blood pressure (BP) of children with congenital SFK comparing agenesis to multicystic dysplastic kidney (MCDK) and correlated BP profiles with renal dimensions of affected and contralateral kidney. METHODS: We compared 40 patients with MCDK, grouped for either treatment options (A: conservative vs B: nephrectomy) or involution time (A1: before 4 years-of-age vs A2: persistence-of-MCDK), to 10 unilateral agenesis (C). Patients were evaluated with ultrasound, scintigraphy, office-ambulatory BP monitoring. RESULTS: Compensatory hypertrophy was demonstrated in most of the subjects, without differences between subgroups, with an increase over time (p < 0.001). A1-C showed an overall percentage of hypertrophy significantly higher than A2-B (83%-88% vs 70%-73%, respectively; p = 0.03); moreover, cumulative risk to develop hypertension in A1-C is significantly higher compared to A2-B in office and ambulatory BP monitoring (p = 0.03). Insufficient dipping in systolic and/or diastolic BP was found in 82% children, without differences between subtypes. CONCLUSIONS: Patients with a small/absent dysplastic kidney have an increased risk to develop hypertrophy and hypertension compared to patients with a large residual, regardless of nephrectomy. ABPM revealed absent dipping in most patients with SFK, warning further investigations in apparently not symptomatic patients.


Assuntos
Pressão Sanguínea/fisiologia , Hipertensão/etiologia , Rim Único/complicações , Monitorização Ambulatorial da Pressão Arterial , Criança , Feminino , Humanos , Hipertensão/diagnóstico , Hipertensão/fisiopatologia , Hipertrofia , Masculino , Prognóstico , Rim Único/congênito , Rim Único/diagnóstico , Ultrassonografia
3.
Gastroenterol Hepatol ; 40(7): 447-454, 2017.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-28233580

RESUMO

BACKGROUND: Strong acid inhibition increases cure rates with triple therapy and 14-day are more effective than 7-day treatments. The combination of amoxicillin plus metronidazole at full doses has been shown to overcome metronidazole resistance and to achieve good eradication rates even in patients harboring resistant strains. No previous studies have been reported in Latin-America with this optimized triple-therapy scheme. AIMS: The aim of the present study was to assess the eradication rate and tolerance of a new first-line treatment regimen associating strong acid inhibition, amoxicillin and metronidazole. METHODS: Patients from the Clínica de Gastroenterología of the Hospital de Clínicas (Montevideo, Uruguay) were included. Hp status was mainly assessed by at least one of the following: histologyor urea breath test (UBT). A 14-day treatment was prescribed comprising esomeprazole 40mg twice a day plus amoxicillin 1g and metronidazole 500mg, both three times a day. H. pylori cure was assessed by UBT. RESULTS: Forty-one patients were enrolled. Mean age was 53.3±13 years and 17.1% of patients were male. Main indications for treatment were: functional dyspepsia (27.5%), gastritis (45%), gastric or duodenal erosions (20%), gastric ulcer (5%) and intestinal metaplasia (2.5%). H. pylori eradication was achieved in 33 of the 37 patients who returned for follow-up. Eradication rates were 80.5% (95% CI: 68.4-92.6) by intention-to-treat (ITT) analysis and 89.2% (95% CI; 79.2-99.2) per protocol (PP). No major side effects were reported; 26 patients (65.8%) complained of mild side effects (nausea, diarrhea and headache). CONCLUSIONS: Cure rates of this triple therapy including esomeprazole, amoxicillin and metronidazole were 81% per ITT and the treatment was well tolerated. These optimal results with a simple clarithromycin-free triple therapy are better than described for standard triple therapy but there is still room for improvement to reach the desired target of 90% per ITT.

4.
Ann Hepatol ; 13(2): 231-9, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24552865

RESUMO

INTRODUCTION: Drug-induced liver injury (DILI) remains a major problem for drug development and represents a challenging diagnosis for clinicians. The absence of specific biomarkers for diagnosing DILI precludes the availability of reliable data on the epidemiology of the disease. In this study we aimed to describe the features of idiosyncratic hepatotoxicity reports in Latin American countries. MATERIAL AND METHODS: A literature search was performed using the online version of MEDLINE, EMBASE, Scopus, Google Scholar and specific data bases from Latin America (LA) (Scielo, Lilacs) to identify any case report or case series of published DILI from 1996 to 2012. From 1996 to 2012, a total of 176 patients with DILI were published in LA, involving 53 suspicious drugs. The median age in the adult population of these patients was 55 years (17-82) with prevalence of women (67%). Among main therapeutic classes, the rank order was led by non-steroidal anti-inflammatory (61 cases) and systemic antibacterial drugs (37 cases). Nimesulide was the individual drug responsible for the highest number of cases (53), followed by cyproterone acetate (18), nitrofurantoin (17), antituberculous drugs (13) and flutamide (12). Thirty two percent of published cases evolved to acute liver failure (ALF), and half of the subjects required liver transplantation or eventually died. CONCLUSIONS: This study represents the first structured attempt to assess the spectrum of DILI profile in LA. The establishment of a Latin American registry to collect prospective DILI cases using a standardized protocol will advance our knowledge about idiosyncratic DILI in this region.


Assuntos
Antibacterianos/efeitos adversos , Anti-Inflamatórios não Esteroides/efeitos adversos , Doença Hepática Induzida por Substâncias e Drogas/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Acetato de Ciproterona/efeitos adversos , Feminino , Flutamida/efeitos adversos , Humanos , América Latina/epidemiologia , Masculino , Pessoa de Meia-Idade , Sulfonamidas/efeitos adversos , Adulto Jovem
5.
J Pediatr Urol ; 20(1): 132.e1-132.e11, 2024 02.
Artigo em Inglês | MEDLINE | ID: mdl-37880015

RESUMO

BACKGROUND: Endoscopic treatment of vesicoureteral reflux (VUR) is an important minimally invasive surgical approach in patients undergoing surgical treatment of VUR. In our past experience, we observed that a bulking agent mound sagittal diameter of 10 mm is the main predictor of effectiveness of the procedure. Moreover we noticed that the use of intraoperative ultrasound, allows the surgeon to better identify the site, volume and shape of the bulking agent injected, finally reducing operative time. OBJECTIVE: We aimed to evaluate if the intraoperative ultrasound assistance could definitively improve effectiveness of the endoscopic procedure. METHODS: We retrospectively compared two series treated with endoscopic procedures for intermediate and high grade primary VUR, respectively without (series A) and with (series B) intraoperative ultrasound (IO-US). In all patients VCUG was performed to assess VUR grade and to verify resolution or VUR downgrading during the follow-up. RESULTS: A total of 177 ureteric units were treated. Endoscopic procedures globally were effective in 68/96 ureters (70.8 %) in series A and in 68/81 ureters (83.9 %) in series B. No significant differences in effectiveness were observed comparing the series with regard to VUR grades, but a significant difference is shown (p < 0.05) when grouping grades III-V VUR. No significance in differences of volume injected were detected, but operative time was significantly lower in series B (27.5 min vs 19.6 min, p < 0.05). Mean sagittal mound diameter measured during cystoscopy in series B was 10.45 mm (range 8.5-14.2 mm). DISCUSSION: The intraoperative ultrasound assistance during endoscopic treatment of VUR could represent a valid tool for surgeons to better identify location, volume and shape of the bulking agent. Furthermore, the use of an objective parameter of evaluation of the implant can overcome the subjective intraoperative evaluation of the implant itself, improving results for experienced surgeons and reducing the learning-curve for inexperienced ones. CONCLUSIONS: Results of endoscopic injection of bulking-agent can be improved with intraoperative ultrasound, allowing at the same time a significant reduction of operative time.


Assuntos
Refluxo Vesicoureteral , Criança , Humanos , Lactente , Seguimentos , Refluxo Vesicoureteral/diagnóstico por imagem , Refluxo Vesicoureteral/cirurgia , Estudos Retrospectivos , Resultado do Tratamento , Cistoscopia/métodos , Ácido Hialurônico , Dextranos
6.
Pediatr Surg Int ; 29(6): 553-9, 2013 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23571823

RESUMO

PURPOSE: The incidence of GER, related symptoms and complications in patients treated for congenital diaphragmatic hernia (CDH) are poorly defined. The aim was to evaluate incidence and development of GER in children treated for CDH in a short- and long-term follow-up period, identifying potential risk factors of morbidity. METHODS: Thirty-six patients were evaluated with pH-MII at a median age of 6 months (T1) and re-evaluated with pH-MII and endoscopy at a median age of 5 years (T2). RESULTS: The incidence of reflux was 83 % in T1 and 61 % in T2; the incidence of symptoms was 62 % in T1 and 38 % in T2. In both groups the reflux was mainly non-acidic. Patch, intrathoracic stomach and esophageal dysmotility were risk factors for GER. CONCLUSIONS: The incidence of GER and symptoms decrease over the time but it was higher than in the literature, probably because it is mainly non-acidic and evaluable only with MII. The esophageal dysmotility was found to be the main risk factor. An high incidence of reflux and esophagitis was found also in asymptomatic patients, and so a close follow-up is recommended in all patients even if it is asymptomatic.


Assuntos
Esofagoscopia/métodos , Esôfago/fisiopatologia , Refluxo Gastroesofágico/fisiopatologia , Hérnias Diafragmáticas Congênitas , Herniorrafia/efeitos adversos , Impedância Elétrica , Esôfago/metabolismo , Feminino , Seguimentos , Refluxo Gastroesofágico/epidemiologia , Refluxo Gastroesofágico/etiologia , Hérnia Diafragmática/complicações , Hérnia Diafragmática/cirurgia , Humanos , Concentração de Íons de Hidrogênio , Incidência , Lactente , Itália/epidemiologia , Masculino , Estudos Retrospectivos , Fatores de Tempo
7.
Antibiotics (Basel) ; 12(6)2023 May 27.
Artigo em Inglês | MEDLINE | ID: mdl-37370290

RESUMO

Fosfomycin in intravenous (IV) formulation has re-emerged as a valuable tool in the treatment of multi-drug resistant (MDR) and extensively drug-resistant (XDR) infections because of its broad spectrum of antibacterial action and pharmacokinetic characteristics. This retrospective study aimed to evaluate how fosfomycin was used in patients admitted to the Polyclinic of Palermo between January 2017 and July 2022. Clinical indications, therapeutic associations, clinical outcomes, and any side effects were analyzed. Intravenous fosfomycin was used in 343 patients, 63% male, with a mean age of 68 years (range 15-95). Urinary tract infections (UTIs) and hospital-acquired pneumonia (HAP) were the main indications for treatment (19% and 18% of the total cases, respectively), followed by skin and soft tissue infections and sepsis. IV fosfomycin was administered in combination with other antibacterial agents, the most common of which were ceftazidime/avibactam (35%), meropenem (17%), and colistin (14%). Nineteen patients received it as monotherapy for UTIs. About 66% had resolution of the infectious process with clinical remission (cure or discharge). Electrolyte disturbances occurred in 2.6% and gastrointestinal symptoms occurred in 2.9%. The data showed that IV fosfomycin is a safe and effective therapeutic option in the treatment of infections with multidrug-resistant microorganisms.

8.
Children (Basel) ; 10(7)2023 Jul 21.
Artigo em Inglês | MEDLINE | ID: mdl-37508751

RESUMO

Primary buried (BP) penis is describes as a small penis caused by a penile ligaments anomaly; it is unclear if a primary BP could reach a normal length. We selected 49 patients treated at our institution between 2015 and 2020 in order to post-operatively evaluate the SPL after one year. SPL was evaluated according to the PH Tanner staging system for pre-pubertal patients according to age-normalized values. A micropenis was detected if the SPL was below 2.5 SD. A normal SPL was found in thirty-two patients, eighteen were in PH Stage 1, four were in PH Stage 2, six were in PH Stage 3, and four were in PH Stage 5. Seventeen patients showed a reduced SPL; in seven of these (four in PH Stage 4 and three in PH Stage 5), their SPL was <2.5 ST. The difference in micropenis prevalence between the pre-pubertal and post-pubertal patients was significant (p = 0.038). A primary BP grows normally during the pre-pubertal period, where patients frequently showed a normal SPL, but it seems to be unable to reach a normal length in the higher PH stages, where the SPL is used to detect a micropenis. We suggest that a primary BP should be considered not as a simple defect of the penile ligaments and surrounding tissues, but as an incomplete manifestation of a micropenis due to a growth slowdown of the organ in late puberty.

9.
Children (Basel) ; 10(6)2023 Jun 09.
Artigo em Inglês | MEDLINE | ID: mdl-37371268

RESUMO

BACKGROUND: Patients with anorectal malformation (ARM) need long-term follow-up, in order to evaluate fecal continence; the main predictors of longer-term success are the type of ARM, associated anomalies and sacral integrity. Three-Dimensional High Resolution Anorectal Manometry (3D-HRAM) gives detailed information on pressure on the anal complex profile. Our objective was to analyze anal sphincter activity in ARM patients with 3D-HRAM establishing the correlation between manometric and clinical data. METHODS: Forty ARM patients were submitted to 3D-HRAM: manometric, anatomical and clinical scores were correlated with each other and with the bowel management response (BM). RESULTS: A positive correlation between all scores and types of ARM was found: in high ARM and in patients with spinal anomalies (regardless to ARM type) lower scores were reported and even after BM they did not achieve good continence. CONCLUSIONS: 3D-HRAM gives detailed data on the functional activity of the anal sphincter complex. Our study revealed a correlation between manometric parameters and clinical outcomes, confirming spinal malformations and ARM type as the most important prognostic risk factors for a bad outcome. Specific sphincteric defects can also be explored with manometry, allowing for tailored bowel management strategies.

10.
Ital J Pediatr ; 48(1): 65, 2022 May 04.
Artigo em Inglês | MEDLINE | ID: mdl-35509048

RESUMO

BACKGROUND: Cardio-facio-cutaneous syndrome (CFCS) belongs to RASopathies, a group of conditions caused by mutations in genes encoding proteins of the rat sarcoma/mitogen-activated protein kinase (RAS/MAPK) pathway. It is a rare syndrome, with about 300 patients reported. Main clinical manifestations include facial dysmorphisms, growth failure, heart defects, developmental delay, and ectodermal abnormalities. Mutations (mainly missense) of four genes (BRAF, MAP 2 K1, MAP 2 K2, and KRAS) have been associated to CFCS. However, whole gene deletions/duplications and chromosomal microdeletions have been also reported. Specifically, 19p13.3 deletion including MAP 2 K2 gene are responsible for cardio-facio-cutaneous microdeletion syndrome, whose affected subjects show more severe phenotype than CFCS general population. CASE PRESENTATION: Hereby, we report on a female newborn with prenatal diagnosis of omphalocele, leading to further genetic investigations through amniocentesis. Among these, array comparative genomic hybridization (a-CGH) identified a 19p13.3 microdeletion, spanning 1.27 Mb and including MAP 2 K2 gene. Clinical features at birth (coarse face with dysmorphic features, sparse and friable hair, cutaneous vascular malformations and hyperkeratotic lesions, interventricular septal defect, and omphalocele) were compatible with CFCS diagnosis, and further postnatal genetic investigations were not considered necessary. Soon after discharge, at around 1 month of life, she was readmitted to our Neonatal Intensive Care Unit due to repeated episodes of vomiting, subtending a hypertrophic pyloric stenosis (HPS) which was promptly identified and treated. CONCLUSIONS: Our report supports the 19p13.3 microdeletion as a contiguous gene syndrome, in which the involvement of the genes contiguous to MAP 2 K2 may modify the patients' phenotype. It highlights how CFCS affected subjects, including those with 19p13.3 deletions, may have associated gastrointestinal defects (e.g., omphalocele and HPS), providing further data on 19p13.3 microdeletion syndrome, and a better characterization of its genomic and phenotypic features. The complex clinical picture of such patients may be worsened by additional, and even precocious, life-threatening conditions like HPS. Clinicians must consider, anticipate and/or promptly treat possible medical and surgical complications, with the aim of reducing adverse outcomes. Extensive diagnostic work-up, and early, continuous, and multidisciplinary follow-up, as well as integrated care, are necessary for the longitudinal clinical evolution of any single patient.


Assuntos
Displasia Ectodérmica , Cardiopatias Congênitas , Hérnia Umbilical , Hibridização Genômica Comparativa , Displasia Ectodérmica/diagnóstico , Displasia Ectodérmica/genética , Fácies , Insuficiência de Crescimento/diagnóstico , Insuficiência de Crescimento/genética , Feminino , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/genética , Humanos , Gravidez , Síndrome
11.
Ital J Pediatr ; 48(1): 140, 2022 Aug 04.
Artigo em Inglês | MEDLINE | ID: mdl-35927685

RESUMO

Infantile hemangiomas may affect the quality of life (QoL) of patients and their family members, as anxiety and worry may commonly occur in parents, also linked to the social adversion they experience. We underline the beneficial impact of oral propranolol therapy on QoL of patients with infantile hemangiomas (IH) and of their relatives. A specific questionnaire measuring QoL was administered to parents of IH patients at beginning and end of a treatment with oral propranolol. Different aspects were investigated: site of the lesion, age of patients at starting therapy, length of treatment, occurrence of adverse effects and persistence/recurrence of the vascular anomaly. In all cases the questionnaire revealed a significant improvement of QoL, which was independent from all analyzed factors. It showed that oral propranolol administration in these patients combines optimal clinical results with relevant improvement of QoL, especially in cases of early management. The improvement of QoL seems unrelated to site of lesion, timing and duration of therapy, occurrence of drug-related adverse effects and persistence/recurrence of disease.


Assuntos
Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos , Hemangioma Capilar , Neoplasias Cutâneas , Administração Oral , Hemangioma Capilar/tratamento farmacológico , Humanos , Lactente , Propranolol/efeitos adversos , Qualidade de Vida , Neoplasias Cutâneas/induzido quimicamente , Neoplasias Cutâneas/tratamento farmacológico , Inquéritos e Questionários , Resultado do Tratamento
12.
Children (Basel) ; 9(12)2022 Dec 17.
Artigo em Inglês | MEDLINE | ID: mdl-36553430

RESUMO

BACKGROUND: Dysphagia in neurologically impaired children is associated with feeding difficulties, malnutrition and aspiration pneumonia. Esophageal high-resolution manometry (HRM) has been used in the diagnosis of motility disorders affecting the swallowing process. The aim of this study was to analyze swallowing functions in NI children by using HRM in order to establish swallow parameters identifying inhalation risk. METHODS: Twenty-five NI children with cerebral palsy were submitted to esophageal HRM with UES analysis, comparing the results with non-NI children. The following parameters were evaluated: maximum pressure and duration of contraction of the velopharynx (VP) and tongue base (TB), and maximal, minimal, resting pressure and relaxation duration of the upper esophageal sphincter (UES). RESULTS: pVP max, pTB max, pUES max and resting pressure were lower, while p UES minimal was higher and relaxation duration was shorter in NI children vs. the control group. Predictive values of inhalation risk were evaluated. CONCLUSIONS: This study evaluates inhalation risk in NI children using HRM to study UES function. Our results confirm the alterations described in NI children: insufficient contraction and clearing force for bolus transmission through the pharynx and incomplete UES relaxation can predispose to pharyngeal residues and inhalation independently of swallowing because of lower values of UES resting.

13.
Ital J Pediatr ; 48(1): 205, 2022 Dec 29.
Artigo em Inglês | MEDLINE | ID: mdl-36581899

RESUMO

BACKGROUND: Congenital syphilis (CS) depends on the placental transmission of Treponema pallidum (TP) spirochetes from an infected mother to fetus during pregnancy. It shows a wide clinical variability with cutaneous and visceral manifestations, including stillbirths, neonatal death, and asymptomatic cases. Preterm infants with CS may have more severe features of disease than the term ones, due to the combined pathogenic effect of both CS and prematurity. CASE PRESENTATION: We report on a female preterm (32+6 weeks of gestation) newborn showing most of the typical CS manifestations, in addition to gastrointestinal disorders including feeding difficulties, colon stenosis and malabsorption leading to postnatal growth restriction. The mother resulted positive at the syphilis screening test of the first trimester of pregnancy, but she did not undergo any treatment. At birth, our newborn was VDRL positive (antibody titer four times higher compared to the mother), and she was treated with intravenous benzathine benzylpenicillin G for 10 days (50,000 IU/Kg three times per day). Poor tolerance to enteral nutrition (abdominal distension, increased biliary type gastric secretions) was observed. A barium enema X-Ray identified a colon stenosis within the descending tract. However, the poor general conditions due to a concurrent fungal sepsis did not allow to perform any surgical procedure, and a conservative approach with total parenteral nutrition was started. The following evolution was marked by difficulties in enteral feeding including refusal of food and vomiting, to which also contributed the neurological abnormalities related to a perinatal asphyxia, and the affective deprivation for the physical absence of the mother during hospitalization. At 5 months of age, after the introduction of an amino acid-based formula (Neocate LCP Nutricia ®), an improvement of enteral feeding was observed, with no further and significantly decreased episodes of abdominal distension and vomiting respectively, and regular stool emission. A psychological support offered to the family allowed a more stable bond between the mother and her baby, thus providing a significant additional benefit to food tolerance and growth. She was discharged at 5 months of age, and included in a multidisciplinary follow-up. She at present shows global growth delay, and normal development apart from mildly increased tone of lower limbs. CONCLUSIONS: Our report highlights less common clinical CS manifestations like gastrointestinal disorders including feeding difficulties, colon stenosis and malabsorption leading to postnatal growth delay. Moreover, it underlines how prematurity may worsen the clinical evolution of such congenital infection, due to the additional pathogenic effect of possible associated diseases and/or conditions like sepsis, hypoxic/ischemic injury, or use of drugs. CS may be observed also in high-income countries, with high rates of antenatal screening and availability of prenatal treatment. A multidisciplinary network must be guaranteed to the affected subjects, to ensure adequate care and improve the quality of life for patients and their families.


Assuntos
Gastroenteropatias , Doenças do Recém-Nascido , Sepse , Sífilis Congênita , Lactente , Recém-Nascido , Humanos , Feminino , Gravidez , Sífilis Congênita/complicações , Sífilis Congênita/diagnóstico , Sífilis Congênita/terapia , Recém-Nascido Prematuro , Qualidade de Vida , Constrição Patológica , Placenta , Vômito
14.
Ital J Pediatr ; 48(1): 206, 2022 Dec 29.
Artigo em Inglês | MEDLINE | ID: mdl-36581928

RESUMO

BACKGROUND: Osteopathia Striata with Cranial Sclerosis (OS-CS), also known as Horan-Beighton Syndrome, is a rare genetic disease; about 90 cases have been reported to date. It is associated with mutations (heterozygous for female subjects and hemizygous for males) of the AMER1 gene, located at Xq11.2, and shows an X-linked pattern of transmission. Typical clinical manifestations include macrocephaly, characteristic facial features (frontal bossing, epicanthal folds, hypertelorism, depressed nasal bridge, orofacial cleft, prominent jaw), hearing loss and developmental delay. Males usually present a more severe phenotype than females and rarely survive. Diagnostic suspicion is based on clinical signs, radiographic findings of cranial and long bones sclerosis and metaphyseal striations, subsequent genetic testing may confirm it. CASE PRESENTATION: Hereby, we report on a female newborn with frontal and parietal bossing, narrow bitemporal diameter, dysplastic, low-set and posteriorly rotated ears, microretrognathia, cleft palate, and rhizomelic shortening of lower limbs. Postnatally, she manifested feeding intolerance with biliary vomiting and abdominal distension. Therefore, in the suspicion of bowel obstruction, she underwent surgery, which evidenced and corrected an intestinal malrotation. Limbs X-ray and skull computed tomography investigations did not show cranial sclerosis and/or metaphyseal striations. Array-CGH analysis revealed normal findings. Then, a target next generation sequencing (NGS) analysis, including the genes involved in skeletal dysplasias, was performed and revealed a de novo heterozygous nonsense mutation of the AMER1 gene. The patient was discharged at 2 months of age and included in a multidisciplinary follow-up. Aged 9 months, she now shows developmental and growth (except for relative macrocephaly) delay. The surgical correction of cleft palate has been planned. CONCLUSIONS: Our report shows the uncommon association of intestinal malrotation in a female newborn with OS-CS. It highlights that neonatologists have to consider such a diagnosis, even in absence of cranial sclerosis and long bones striations, as these usually appear over time. Other syndromes with cranial malformations and skeletal dysplasia must be included in the differential diagnosis. The phenotypic spectrum is wide and variable in both genders. Due to variable X-inactivation, females may also show a severe and early-onset clinical picture. Multidisciplinary management and careful, early and long-term follow-up should be offered to these patients, in order to promptly identify any associated morbidities and prevent possible complications or adverse outcomes.


Assuntos
Doenças Ósseas , Fenda Labial , Fissura Palatina , Megalencefalia , Feminino , Masculino , Humanos , Recém-Nascido , Códon sem Sentido , Esclerose , Proteínas Supressoras de Tumor/genética , Proteínas Adaptadoras de Transdução de Sinal/genética
15.
J Pediatr Gastroenterol Nutr ; 52(6): 686-90, 2011 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-21597403

RESUMO

OBJECTIVES: Gastroesophageal reflux (GER) and dismotility occur frequently after repair of esophageal atresia (EA). GER-associated complications can manifest either early or later; then precocious diagnosis and treatment are essential. The aim of the study was to evaluate characteristics of GER and esophageal clearance in children treated for EA with distal tracheoesophageal fistula, using pH-multichannel intraluminal impedance (pH-MII). PATIENTS AND METHODS: Twenty-two children (ages 3-40 months) treated for EA at birth, and 20 normal children of similar age with suspected GER disease were included in the study. Impedance parameters were analyzed according to age and symptoms. RESULTS: Reflux events were mainly nonacidic. About bolus exposure index, mean acid clearing time (MACT), and mean bolus clearing time (MBCT), a significant difference was found between 2 groups: the median MACT and MBCT were longer, with values of 281 and 39 seconds, respectively, in the EA group and 110 and 15 seconds in the control group (P < 0.0005). CONCLUSIONS: Our data show that in young patients the majority of refluxes are not acid. This implies that the incidence of GER may be underestimated if pH-metry is used. The pH-MII is an ideal test in children because it studies both GER with its characteristics and motility pattern. The quality of reflux does not seem to influence the onset of symptoms that are related to an impaired esophageal clearance. Hence, this technique could be useful to study patients treated for EA, avoiding the onset of complications.


Assuntos
Atresia Esofágica/cirurgia , Esôfago/fisiopatologia , Ácido Gástrico/fisiologia , Refluxo Gastroesofágico/etiologia , Trânsito Gastrointestinal , Complicações Pós-Operatórias/diagnóstico , Estudos de Casos e Controles , Pré-Escolar , Monitoramento do pH Esofágico , Humanos , Concentração de Íons de Hidrogênio , Lactente , Fístula Traqueoesofágica/cirurgia
16.
J Pediatr Gastroenterol Nutr ; 52(1): 26-30, 2011 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-21057329

RESUMO

OBJECTIVE: Multichannel intraluminal impedance (MII) directly evaluates esophageal bolus transport. There is a good correlation between MII and manometry in healthy adults, but there are no reports concerning children.The aim of the present study was to determine normal values of esophageal motility using only impedance measurements in healthy children and in a pediatric population with gastroesophageal reflux (GER). PATIENTS AND METHODS: We described in the present study 60 children submitted to pH-MII for 24 hours for suspected GER. Patients were divided into 2 different groups on the basis of their pH-MII report. Group 1 patients showed acid GER, whereas group 2 patients had negative pH-MII analysis for GER despite symptoms. We described impedance reflux and motility parameters on 10 standardized swallows: number of reflux, mean acid clearing time, median bolus clearing time, bolus presence time, total bolus transit time, segmental transit time, and total propagation velocity. RESULTS: In group 1, the median mean acid clearing time was 151 seconds, whereas the median mean bolus clearing time was 25 seconds. In group 2 patients, all of the reflux parameters were normal. In group 1 the median bolus presence time at each measuring site, the median total bolus transit time, and the median segmental transit time were significantly greater and total propagation velocity lower than values reported in group 2 (P < 0.001), if compared with those described for adult patients. CONCLUSIONS: The pH-MII is an ideal test in children because it studies GER with its characteristics and motility pattern. Our report summarizes for the first time impedance motility parameters in healthy children.


Assuntos
Impedância Elétrica , Esôfago/fisiologia , Esôfago/fisiopatologia , Refluxo Gastroesofágico/fisiopatologia , Motilidade Gastrointestinal/fisiologia , Criança , Pré-Escolar , Feminino , Trânsito Gastrointestinal/fisiologia , Humanos , Concentração de Íons de Hidrogênio , Masculino , Valores de Referência , Estatísticas não Paramétricas
17.
Children (Basel) ; 8(12)2021 Dec 11.
Artigo em Inglês | MEDLINE | ID: mdl-34943370

RESUMO

BACKGROUND: Transanal irrigation (TAI) is employed for children with fecal incontinence, but it can present several problems which require a study of their outcomes among different pathologies and without a tailored work up. The aim of our study was to evaluate the effectiveness of an advanced protocol in order to tailor TAI, prevent complications, and evaluate outcomes. METHODS: We included 70 patients (14 anorectal malformation, 12 Hirschsprung's disease, 24 neurological impairment, 20 functional incontinence) submitted to a comprehensive protocol with Peristeen®: fecal score, volumetric enema, rectal ultrasound, anorectal 3D manometry, and diary for testing and parameter adjustment. RESULTS: Among the patients, 62.9% needed adaptations to the parameters, mainly volume of irrigated water and number of puffs of balloon. These adaptations were positively correlated with pre-treatment manometric and enema data. In each group, the improvement of score was statistically significant in all cases (p 0.000); the main factor influencing the efficacy was the rate of sphincter anomalies. The ARM group had slower improvement than other groups, whereas functional patients had the best response. CONCLUSIONS: Our results showed that TAI should not be standardized for all patients, because each one has different peculiarities; evaluation of patients before TAI with rectal ultrasound, enema, and manometry allowed us to tailor the treatment, highlighting different outcomes among various pathologies, thus improving the efficacy.

18.
Pediatr Surg Int ; 26(6): 601-6, 2010 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-20414661

RESUMO

PURPOSE: The aim of study was to evaluate if pelvic ultrasound can be useful in managing children with chronic idiopathic constipation. METHODS: A total of 270 children with idiopathic chronic constipation were enrolled in the study. At baseline and at monthly checkups children were evaluated by clinical score and pelvic ultrasound (US). Patients have been divided in 2 groups, based on pelvic US results: group A with a rectal diameter >3 cm, group B with a rectal diameter <3 cm or rectum not visualized. Both groups were subsequently randomly divided in two subgroups (A1, A2, B1, B2) on the basis of the prescribed treatment (disimpaction for the first week and daily laxative or only daily laxative). RESULTS: After 1 month of therapy all clinical features improved in group A1 and at pelvic US, rectal size reduced and became not visualized; group A2 showed poor clinical response and transverse diameter of rectum did not modify significantly; B1 and B2 groups showed significant improvement only after 2-3 months. CONCLUSIONS: Rectal disimpaction is necessary only in presence of MR. Pelvic US is a useful to diagnose MR and to set up the most appropriate treatment protocol for different chronic constipation cases.


Assuntos
Canal Anal/diagnóstico por imagem , Constipação Intestinal/diagnóstico por imagem , Constipação Intestinal/terapia , Megacolo/terapia , Catárticos/uso terapêutico , Criança , Pré-Escolar , Doença Crônica , Constipação Intestinal/complicações , Feminino , Humanos , Masculino , Megacolo/etiologia , Estudos Prospectivos , Ultrassonografia
19.
J Pediatr Urol ; 16(2): 191.e1-191.e6, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31928899

RESUMO

BACKGROUND/INTRODUCTION: Vesicoureteral reflux (VUR) potentially leads to renal damage, scarring, and eventually end-stage renal disease. Endoscopic treatment is well tolerated in children, it has reduced costs, and it effectively prevents urinary tract infections (UTIs), while avoiding long term antibiotics use. OBJECTIVE: With the aim to investigate the time needed to reach the stabilization of the dextranomer/hyaluronic acid (Dx/HA) implants and to identify cut-off heights to ensure the success of the procedure, the authors analyzed ultrasonographic (US) intra-operative appearance of the mounds following endoscopic treatment for VUR and repeated the measurements during serial postoperative evaluations. The final clinical goal would be to obtain an alternative parameter that might reduce the need for postoperative voiding cystourethrogram (VCUG). STUDY DESIGN: The authors selected all children treated for moderate-high grade VUR with renal scarring or repeated UTI under antibiotic prophylaxis and followed with regular time points for at least 1 year (time points 1, 3, 6, and 9 months). Endoscopic injection performed with double-HIT/STING technique was combined with US to determine the intra-operative mound height and to calculate reabsorption rate. Mound height was measured as the maximal vertical diameter of the mound visualized at the ureteral orifice. Based on postoperative VCUG findings, patients were divided in group A (success of the endoscopic treatment) and group B (persistence of reflux). RESULTS: Thirty patients aged 1-7 years, counting for 47 ureters, completed the protocol and were included in the analysis. Mounds height had a significant difference between A and B at all time points (P < 0.005). However, height did not differ between 6 and 9 months in both groups. Percentage of reduction in A was significant from 1 to 6 months (P < 0.005) but not onward, while in B, it was never significant. Ultimately, both groups had a comparable trend of reabsorption, with a complete stabilization achieved in 6 months and an overall reduction of approximately 22%. DISCUSSION AND CONCLUSION: Following the endoscopic injection of Dx/HA, US mounds height was found to strongly correlate with VCUG, both intra-operatively and for months following the procedure. Compared with the available literature, the authors first report a fixed reabsorption rate, consistent with the results in animal models and a timeframe to achieve stabilization. The possibility to measure those parameters with US renders this approach useful in the clinical setting, and it justifies the reduced use of VCUG in the follow-up of endoscopic injection for VUR.


Assuntos
Refluxo Vesicoureteral , Criança , Dextranos , Humanos , Ácido Hialurônico , Lactente , Estudos Retrospectivos , Resultado do Tratamento , Refluxo Vesicoureteral/terapia
20.
J Laparoendosc Adv Surg Tech A ; 19 Suppl 1: S133-6, 2009 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-19196091

RESUMO

BACKGROUND: This study aimed to assess whether deferential reflux in pediatric and adolescent varicocele can be successfully treated laparoscopically. MATERIALS AND METHODS: Since 2001 at our institution, 148 boys were evaluated for a left varicocele. Preoperatively,all the patients underwent ultrasound scan assessment of testicular volume and color-Doppler US (CDUS)to rule out reflux into the internal spermatic vein (ISV), deferential vein, or cremasteric vein. Boys with ISV reflux were treated by laparoscopic transperitoneal Palomo; boys with isolated deferential reflux or associated to ISV reflux were laparoscopically managed adding to the former procedure, coagulation or clipping of refluxing deferential veins. RESULTS: Reflux in both the ISV and the deferential vein was observed in 21 (14.1%) out 148 boys with varicocele.Only one case (0.6%) of varicocele was caused by an isolated deferential reflux. No reflux in the cremasteric vein was observed. After a median follow up period of 2 years (range, 6 months-5 years), none of our patients with deferential reflux experienced varicocele recurrence either clinically or according to CDUS scanning.No testicular atrophy was observed. CONCLUSION: Our diagnostic approach is a rigorous standard for identifying all the venous systems concurring with the varicocele. Our proposed technique with laparoscopic interruption or coagulation of deferential veins when proved by CDUS to be refluxing may allow successful treatment for most varicoceles. This method allows reduction in recurrence of varicocele due to a missed deferential reflux.


Assuntos
Laparoscopia/métodos , Varicocele/cirurgia , Ducto Deferente/fisiopatologia , Adolescente , Criança , Humanos , Masculino , Ultrassonografia , Varicocele/diagnóstico por imagem , Varicocele/fisiopatologia
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