Myeloid sarcoma is a tumor composed of myeloblasts occurring at an extramedullary site. It may develop in patients with acute myeloid leukemia, myeloproliferative or myelodysplastic syndrome, ...sometimes preceding onset of the systemic disease. Frequent sites of myeloid sarcoma are bones or various soft tissues. Gastrointestinal involvement is very rare. We report a unique case of myeloid sarcoma presenting as a painful anal fissure, in a patient with a history of acute myeloid leukemia. The diagnosis was achieved by a surgical excisional biopsy and immunoistochemical staining.
Objective
To investigate the clinical characteristics, the neuroimaging features and associated anomalies observed in children affected by Dandy–Walker malformations (DWM) and variants (DWV) in a ...single tertiary hospital in Catania and compare our data to their existent in the literature.
Methods
A retrospective case series using the medical records has been performed on 28 children diagnosed with DWM and DWV admitted to a single tertiary section of Pediatric Neurology, Department of Catania, Italy from January 2005 to January 2021. We reviewed the neuroimaging using the new diagnostic criteria of Klein et al.
Results
Associated anomalies were frequently reported. Among these, hydrocephalus was found in 13/28 (48%), and hydrocephalus plus corpus callosum anomalies in three children (10%). We described corpus callosum, cardiac and genitourinary anomalies in 2/28 (7%), 3/28 (10%), and 3/28 (10%), respectively. The most common clinical features were the developmental delay and epilepsy observed in 19/28 (67%) and in 9/28 (32%) of the cases. The first exam at the diagnosis was MRI in 17/28 patients, followed by transfontanellar ultrasound in 5/28, computed tomography in 4/28 and prenatal ultrasound in 2/28. To note, a child with DWM was affected by Down syndrome and one by congenital disorders of N-linked glycosylation (CDG-IId).
Conclusions
Children with DWV were more commonly observed than children with DWM. Hydrocephalus is an anomaly, frequently and equally reported in both DWM and DMV. Perinatal complications were frequent adverse events with severe respiratory distress and need for cardiopulmonary resuscitation. Cognitive involvement and epilepsy were the most common comorbidities. Single DWV is associated with a better developmental outcome.
Primary headache disorders in children are one of the most prominent topics in the pediatric neurology literature. However, there are many unsolved aspects, including the conditions associated with ...migraine. The present study aims to report on the frequency of behavioral comorbidities in the setting of primary headache in childhood.
In this study, we enlisted 475 children (290 males and 185 females; ratio 1.6:1), aged 4 to 14 years, who were affected by primary headache. In direct interviews, children and parents gave information on the association of their headache with, attention-deficit/hyperactivity disorder, learning disabilities, tics, anxiety, depression, and obsessive-compulsive disorder. Other 475 children with no history of headache or recognized neurological conditions were matched for age, sex, race, and socioeconomic status and were used as controls.
A significant association of primary headache was found with anxiety and depression (p-value <0.001); overall, behavioral disorders were more common in children who experienced headache than in controls (p-value <0.001).
Primary headache in children is not associated with most of the common behavioral conditions. On the contrary, there was a significant association with anxiety and depression, as reported in adults.
The treatment of infants with bronchiolitis is largely supportive. The role of bronchodilators is controversial. Most studies of the use of bronchodilators have enrolled small numbers of subjects and ...have examined only short-term outcomes, such as clinical scores.
We conducted a randomized, double-blind, controlled trial comparing nebulized single-isomer epinephrine with placebo in 194 infants admitted to four hospitals in Queens-land, Australia, with a clinical diagnosis of bronchiolitis. Three 4-ml doses of 1 percent nebulized epinephrine or three 4-ml doses of normal saline were administered at four-hour intervals after hospital admission. Observations were made at admission and just before, 30 minutes after, and 60 minutes after each dose. The primary outcome measures were the length of the hospital stay and the time until the infant was ready for discharge. The secondary outcome measures were the degree of change in the respiratory rate, the heart rate, and the respiratory-effort score and the time that supplemental oxygen was required.
There were no significant overall differences between the groups in the length of the hospital stay (P=0.16) or the time until the infant was ready for discharge (P=0.86). Among infants who required supplemental oxygen and intravenous fluids, the time until the infant was ready for discharge was significantly longer in the epinephrine group than in the placebo group (P=0.02). The need for supplemental oxygen at admission had the greatest influence on the score for severity of illness and strongly predicted the length of the hospital stay and the time until the infant was ready for discharge (P<0.001). There were no significant changes in the respiratory rate, blood pressure, or respiratory-effort scores from before each treatment to after each treatment. The heart rate was significantly increased after each treatment with epinephrine (P=0.02 to P<0.001).
The use of nebulized epinephrine did not significantly reduce the length of the hospital stay or the time until the infant was ready for discharge among infants admitted to the hospital with bronchiolitis.
Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterised by progressive neurological degeneration, where the rate of neurological disease progression varies depending on age ...at neurological onset. We report longitudinal data on functional disease progression and safety observations in patients in the international NPC Registry who received continuous treatment with miglustat.
The NPC Registry is a prospective observational cohort of NP-C patients. Enrolled patients who received ≥1 year of continuous miglustat therapy (for ≥90 % of the observation period, with no single treatment interruption >28 days) were included in this analysis. Disability was measured using a scale rating the four domains, ambulation, manipulation, language and swallowing from 0 (normal) to 1 (worst). Neurological disease progression was analysed in all patients based on: 1) annual progression rates between enrolment and last follow up, and; 2) categorical analysis with patients categorised as 'improved/stable' if ≥3/4 domain scores were lower/unchanged, and as 'progressed' if <3 scores were lower/unchanged between enrolment and last follow-up visit.
In total, 283 patients were enrolled from 28 centers in 13 European countries, Canada and Australia between September 2009 and October 2013; 92 patients received continuous miglustat therapy. The mean (SD) miglustat exposure during the observation period (enrolment to last follow-up) was 2.0 (0.7) years. Among 84 evaluable patients, 9 (11 %) had early-infantile (<2 years), 27 (32 %) had late-infantile (2 to <6 years), 30 (36 %) had juvenile (6 to <15 years) and 18 (21 %) had adolescent/adult (≥15 years) onset of neurological manifestations. The mean (95%CI) composite disability score among all patients was 0.37 (0.32,0.42) at enrolment and 0.44 (0.38,0.50) at last follow-up visit, and the mean annual progression rate was 0.038 (0.018,0.059). Progression of composite disability scores appeared highest among patients with neurological onset during infancy or childhood and lowest in those with adolescent/adult-onset. Overall, 59/86 evaluable patients (69 %) were categorized as improved/stable and the proportion of improved/stable patients increased with age at neurological onset. Safety findings were consistent with previous data.
Disability status was improved/stable in the majority of patients who received continuous miglustat therapy for an average period of 2 years.
The purpose of this study was to evaluate the clinical activity and toxicity of recombinant human Interleukin (IL)-12 in patients with relapsed and refractory non-Hodgkin's lymphoma (NHL) or ...Hodgkin's disease (HD).
Forty-two previously treated patients (32 patients with NHL and 10 patients with HD) were enrolled on the study. Patients were treated with either intravenous (n = 11) or subcutaneous (n = 31) administration of IL-12. The patients had received a median of three prior treatment regimens, and 16 patients had undergone prior autologous stem cell transplantation.
All patients were assessable for toxicity, and 39 of 42 (93%) patients were assessable for response. Six of 29 (21%) patients with NHL had a partial or complete response, whereas none of the 10 patients with HD responded. Furthermore, 15 patients had stable disease that lasted for up to 54 months. Progression-free survival in patients with indolent NHL, aggressive NHL, and HD was 6, 2, and 2.5 months, respectively. Treatment was well tolerated, and the most common toxicity was flu-like symptoms. Reversible grade 3 hepatic toxicity was observed in three patients requiring dose reduction. IL-12 therapy increased the median number of peripheral blood CD8 T lymphocytes from 423/microl to 576/microl (P = 0.0019). Furthermore, IL-12 therapy decreased serum vascular endothelial growth factor and basic fibroblast growth factor concentrations in 37% of the patients.
The ability of recombinant human IL-12 therapy to increase the number of circulating CD8+ cells and induce clinical remissions in patients with relapsed NHL warrants further investigation of the drug.
OBJECTIVE: Pseudotumor Cerebri Syndrome (PTCS) is defined by the whole of signs and symptoms caused by elevated intracranial pressure of unclear etiology in the setting of normal brain parenchyma and ...cerebrospinal fluid. The diagnostic workup is important to differentiate this disorder from other conditions including brain tumors. The aim of this study is to emphasize the role of clinical signs as well as ophthalmologic evaluation for an accurate diagnosis, and to present a case-series of 37 children affected by this condition. PATIENTS AND METHODS: A retrospective study review has been performed using the medical records of the hospitalized children in the Policlinico-Vittorio Emanuele-G. Rodolico, Pediatric Units of Catania (Italy) from October 2005 to February 2020. The study was conducted ethically in accordance with World Medical Association Declaration of Helsinki and was approved by the Ethic Committee of the University of Catania, Italy (Catania 1 Clinical Registration n 138877/PO). We identified 37 children who were diagnosed with PTCS. In all the subjects, diagnosis Intracranial Idiopathic Hypertension has been verified in accordance to the Friedman 2013 criteria. Subjects with secondary intracranial hypertension have been excluded. RESULTS: A total of 37 subjects were included in this study, with a mean age, at the time of the admission, of 10 ± 3.5 years (range 4-18 years). Among these children, 56.7% were female (21 female/16 male) and almost all were overweight and/or obese (35/37, 94.5%). The most frequent symptoms were headache, vomiting and paralysis of the VI cranial nerve. In 16.2% of the cases, headache was not reported, 8.1% were asymptomatic and 5.4% had not manifested papilledema. CONCLUSIONS: In this study group, obesity and overweight were the main risk factors of intracranial Idiopathic hypertension, regardless of gender and age of the children. A different gender distribution was observed in the two groups of children based on age and pubertal development: Female gender was a risk factor for children over 10 years old and/or in pubertal stage, while the male gender was predominant in younger and/or prepubertal children. Our data suggest that, even if a minority, there is a number of children that remains under-diagnosed with a greater potential risk of developing long-term complications.
Background: Endoscopic ultrasound (EUS) is considered the best technique for locoregional staging at diagnosis but its role in the follow-up of patients with gastric lymphoma after organ-conserving ...strategies has not been established.
Design and methods: We retrospectively evaluated 23 patients with primary gastric lymphoma treated with a stomach-conservative approach. Sixteen of them were affected by MALT lymphoma and seven by diffuse large-B-cell lymphoma (DLBCL). Five patients were treated with Helicobacter pylori (HP) eradication therapy alone (omeprazole + amoxicillin + clarithromycin); eight patients received a treatment including HP eradication and chemotherapy and the remaining 10 patients were treated with chemotherapy alone.
Results: At the end of treatment, a complete remission was documented in 21 (91%) patients by endoscopy with biopsy (E-Bx) but in only seven (30%) patients by EUS. A total of 99 evaluations with both EUS and E-Bx were evaluated and we found concordance between the two methods in 33 occasions (33%) only. No significant difference on the percentage of concordance was recorded between MALT and DLBCL. After a median follow-up of 36.5 months we have not observed any relapse in 12 patients (six DLBCL and six MALT) with a persistent positive EUS but negative E-Bx.
Conclusions: Although the length of follow-up cannot exclude late relapse, we think that in restaging and follow-up of gastric lymphoma, EUS seems not to be a reliable tool if it is abnormal and E-Bx still remains the gold standard. Therefore, after conventional conservative treatment, persistence of EUS abnormality with a negative histology should not be considered as a clinically relevant persistence of disease and should not be a reason for further treatment.
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