Diet-related urine collections: assistance in categorization of hyperoxaluria

Hyperoxaluria, one of the major risk factors for calcium oxalate urolithiasis and nephrocalcinosis, causes significant morbidity and mortality and should therefore be detected and treated as soon as possible. An early, consequent and adequate evaluation, but also a distinction between primary (PH) and secondary hyperoxaluria (SH) is therefore essential. We evaluated the usefulness of three consecutive 24-h urine collections under different diets [usual diet, (A), low oxalate diet, (B), high oxalate diet, (C)] to prove SH, or to find evidence of PH by changes in urinary oxalate excretion (Uox). We retrospectively analyzed results from 96 pediatric patients (47 females and 49 males, age 3–18 years) who presented with a history of nephrolithiasis, nephrocalcinosis and/or persistent hematuria in whom hyperoxaluria was found in an initial urine sample. The typical pattern of SH was found in 34 patients (mean Uox (A) 0.85 ± 0.29, (B) 0.54 ± 0.15 and (C) 0.95 ± 0.28 mmol/1.73m2/d). PH was suspected in 13 patients [(A) 1.21 ± 0.75; (B) 1.47 ± 0.51 and (C) 1.60 ± 0.82 mmol/1.73m2/d], but genetically proven only in 1/5 patients examined. No hyperoxaluria was found in 16 patients. Data were inconclusive in 33 patients. Urine collection under different diets is helpful to diagnose secondary hyperoxaluria and may provide evidence, that urinary oxalate excretion is normal. We have now established this procedure as our first diagnostic step before further, more extensive and more expensive evaluations are performed.

Parental first concern according to age and type in children with ASD

Background: Developmental problems concerned by parents are a further diagnostic step for children with ASD. Research is needed to find a picture of the child's behavior complained of by parents. Investigations about first concerns among parents of children with ASD and comparisons of the same with children diagnosed with other developmental disorders are rare.Objective: to examine the type and age of parents ‘concern in children with ASD and other developmental disorders.Method:A cross-sectional study was conducted in Child Developmental Centre in Surabaya Indonesia from August 1 to December 30, 2019. T-test and chi-square tests were used to analyze differences in subject variables and types of concern.Result: Most parents of both children diagnosed with ASD and non-ASD indicated first concern were in communication, social skill, and behavior problem. The average age of parents’ first concern of ASD children is 30,14 months. Significant differences were found between ASD and non-ASD groups in communications, behavior, and sensory problem concerns. Conclusion: There is no specific difference between parental concerns of children with ASD and non-ASD children. The average age of first concern was significantly younger for children with an ASD diagnosis than other developmental disorders.Keywords :parent concern, autism, communication.Correspondence :dian_dwisary@yahoo,com

Isolated Traumatic Dislocation of the Malleus into the External Auditory Canal

We report a rare case of isolated malleus dislocation into the external auditory canal with lateralized intact tympanic membrane following a head trauma. The patient was a 63-year-old woman who presented at the outpatient department of our institute with hearing loss of 10 years’ duration after a bicycle accident. During physical examination of the patient, total dislocation of the malleus-like bony structure into the external auditory canal on the right side was observed. In the computed tomography scan, an isolated malleus dislocation with intact incus-stapes articulation was identified. The patient was successfully treated with endoscopic exploratory tympanotomy and partial ossicular replacement prosthesis. The isolated malleus dislocation can rarely occur after trauma. A careful diagnostic step through history, physical examination, and temporal bone computed tomography scan are needed to confirm this rare condition.

Significant variation in histopathological assessment of endoscopic resections for Barrett's neoplasia suggests need for consensus reporting: propositions for improvement

Endoscopic resection (ER) is an important diagnostic step in management of patients with early Barrett’s esophagus (BE) neoplasia. Based on ER specimens, an accurate histological diagnosis can be made, which guides further treatment. Based on depth of tumor invasion, differentiation grade, lymphovascular invasion, and margin status, the risk of lymph node metastases and local recurrence is judged to be low enough to justify endoscopic management, or high enough to warrant invasive surgical esophagectomy. Adequate assessment of these histological risk factors is therefore of the utmost importance. Aim of this study was to assess pathologist concordance on these histological features on ER specimens and evaluate causes of discrepancy. Of 62 challenging ER cases, one representative H&E slide and matching desmin and endothelial marker were digitalized and independently assessed by 13 dedicated GI pathologists from 8 Dutch BE expert centers, using an online assessment module. For each histological feature, concordance and discordance were calculated. Clinically relevant discordances were observed for all criteria. Grouping depth of invasion categories according to expanded endoscopic treatment criteria (T1a and T1sm1 vs. T1sm2/3), ≥1 pathologist was discrepant in 21% of cases, increasing to 45% when grouping diagnoses according to the traditional T1a versus T1b classification. For differentiation grade, lymphovascular invasion, and margin status, discordances were substantial with 27%, 42%, and 32% of cases having ≥1 discrepant pathologist, respectively. In conclusion, histological assessment of ER specimens of early BE cancer by dedicated GI pathologists shows significant discordances for all relevant histological features. We present propositions to improve definitions of diagnostic criteria.

Comparative Analysis Of The Results Of The Endoscopic Treatment Of Gastroduodenal Ulcerative Bleeding

The study includes 557 patients with ulcer of the stomach and duodenal intestine complicated by bleeding. The control group was 290 patients, of which 48 patients with active bleeding were performed by standard endoscopic hemostasis techniques, and in 242 cases, when verifying stopping bleeding, endoscopy was limited to the diagnostic step with subsequent conservative patient management. The main group includes 267 patients in addition to endoscopic hemostasis with active bleeding (46 patients), the manipulation was supplemented with the implementation of the proposed method of endoscopic treatment of gastroduodenal bleeding of ulcerative genesis. When revealed bleeding (221 patients), endoscopic intervention was also accompanied by the implementation of the proposed method. The application of the composite polymer material over the ulcerative defect contributed to a decrease in the frequency of the nearest recurrences of hemorrhagic syndrome from 9.0% to 1.9%, reduce the need to perform operational treatment from 6.6% to 1.1% and levity indicator from 1.7% up to 0.7%, which generally affected the increase in the share of patients discharged without complications from 90.7% to 97.8% and reducing the timing of the hospital phase of treatment.

Evaluation of the quality of lentic ecosystems in Romania by a GIS based WRASTIC model

Globally, ecosystems are constantly degrading as a result of pressures derived from human activities and climate change. For working towards the restoration of the natural balance, it is necessary to evaluate the deviations induced in the ecosystems, to identify where the changes took place, to know what is their amplitude and to decide where it is possible to get involved. Many aquatic ecosystems are depreciated and their restoration is often difficult. Development of appropriate assessment methodologies will improve the decision-making process in public policies for environmental protection and conservation of biodiversity. This study presents an assessment of the degradation level of lentic ecosystems in Romania, performed through a multi-criteria analysis. An extension of the WRASTIC index (Wastewater-Recreational-Agricultural-Size-Transportations-Indutrial-Cover) was generated, namely WRASTIC-HI. The new index was obtained by including values derived from the Potential Pollutant Load index. The analysis showed that 13% of the evaluated lakes are natural, 56.5% are semi-degraded and 30.5% are degraded. The proposed methodology allows to determine the spatial distribution of the degradation sources and to calculate the corresponding indicators. The results obtained provide a useful tool for diagnostic step that can be used as a cornerstone to further identification of environmental conflicts and proposals for improvement of the ecological status of the lentic ecosystems.

The Role of Neuroimaging and Genetic Analysis in the Diagnosis of Children With Cerebral Palsy

Cerebral magnetic resonance imaging (MRI) is considered an important tool in the assessment of a child with cerebral palsy (CP), as it is abnormal in more than 80% of children with CP, disclosing the pathogenic pattern responsible for the neurological condition. MRI, therefore, is recommended as the first diagnostic step after medical history taking and neurological examination. With the advances in genetic diagnostics, the genetic contribution to CP is increasingly discussed, and the question arises about the role of genetic testing in the diagnosis of cerebral palsy. The paper gives an overview on genetic findings reported in CP, which are discussed with respect to the underlying brain pathology according to neuroimaging findings. Surveillance of Cerebral Palsy in Europe (SCPE) classifies neuroimaging findings in CP into five categories, which help to stratify decisions concerning genetic testing. Predominant white and gray matter injuries are by far predominant (accounting for around 50 and 20% of the findings). They are considered to be acquired. Here, predisposing genetic factors may play a role to increase vulnerability (and should especially be considered, when family history is positive and/or causative external factors are missing). In maldevelopments and normal findings (around 11% each), monogenic causes are more likely, and thus, genetic testing is clearly recommended. In the miscellaneous category, the precise nature of the MRI finding has to be considered as it could indicate a genetic origin.

Discrepancies between radiological and histological findings in preoperative core needle (CNB) and vacuum-assisted (VAB) breast biopsies

Background Ultrasound (US)-guided breast biopsy is a routine diagnostic method used to correlate imaging finding to a histological diagnosis which is still the gold standard in preoperative diagnostics. The accuracy of US-guided breast biopsies relies on a precise radiologic-histopathologic correlation, which is discussed amongst an interdisciplinary team of gynecologists, radiologists and pathologists. However, false-negative or non-diagnostic biopsy results occur. Hence, a thorough and honest discussion to clarify the reason for discrepancies and to decide the next diagnostic step between specialists of the different disciplines is warranted. In this retrospective study, we analyzed discrepant findings between imaging and pathology results on preoperative breast biopsies. Methods Core and vacuum-assisted breast biopsies from 232 patients were included in this study. Inclusion criteria were (1) non-diagnostic (B1) category on histology independent from imaging category and (2) histological benign (B2) category with a BIRADS 5 (Breast Imaging Reporting and Data System) rating on imaging. Histological diagnoses were retrieved from all cases. Follow-up data were available in most cases. Results 138 biopsies were classified as B1, 94 biopsies as B2 category. 51 of 138 B1 cases (37%) underwent re-biopsy. Re-biopsy found malignancy (B5) in 19 of 51 cases, and B3/4 (premalignant) lesions in 3 of 51 cases. All B2 cases underwent second-look imaging-diagnosis, in 57 of 94 cases (66%) consecutive direct surgery or re-biopsy. Of these, malignancy was diagnosed histologically in 26 of 57 cases (45.6%). Conclusion Determining imaging-pathology concordance after US-guided breast biopsy is essential. Discrepant cases and further diagnostic steps need to be discussed with an interdisciplinary approach.

The challenges of diagnosing diabetes in childhood

Diabetes is one of the most prevalent diseases worldwide, whereby type 1 diabetes mellitus (T1DM) alone involves nearly 15 million patients. Although T1DM and type 2 diabetes mellitus (T2DM) are the most common types, there are other forms of diabetes which may remain often under-diagnosed, or that can be misdiagnosed as being T1DM or T2DM. After an initial diagnostic step, the differential diagnosis among T1DM, T2DM, Maturity-Onset Diabetes of the Young (MODY) and others forms has important implication for both therapeutic and behavioral decisions. Although the criteria used for diagnosing diabetes mellitus are well defined by the guidelines of the American Diabetes Association (ADA), no clear indications are provided on the optimal approach to be followed for classifying diabetes, especially in children. In this circumstance, both routine and genetic blood test may play a pivotal role. Therefore, the purpose of this article is to provide, through a narrative literature review, some elements that may aid accurate diagnosis and classification of diabetes in children and young people.