Level of the conus in pediatric patients with skeletal dysplasia

2010 ◽  
Vol 5 (5) ◽  
pp. 455-459 ◽  
Author(s):  
Deanna M. Sasaki-Adams ◽  
Jeffrey W. Campbell ◽  
Gela Bajelidze ◽  
Marcelo C. Assis ◽  
William G. Mackenzie ◽  
...  
Keyword(s):  
Short Stature ◽  
Vertebral Body ◽  
Skeletal Dysplasia ◽  
Pediatric Patients ◽  
Bone Development ◽  
Tertiary Care ◽  
Tethered Cord ◽  
Retrospective Chart Review ◽  
Conus Medullaris ◽  
Skeletal Dysplasias

Object Skeletal dysplasias are a heterogeneous group of disorders that affect bone development and can result in reduced vertebral body growth and short stature. The level of the conus medullaris is unknown in this population. The purpose of this review was to determine the level of the conus in a population of pediatric patients with skeletal dysplasia. Methods A retrospective chart review of a 7-year period was undertaken at a tertiary care pediatric hospital to identify patients in whom skeletal dysplasia had been diagnosed. Radiographs and MR imaging studies were evaluated to discern the level of the conus with respect to the bony vertebral column. Results Four hundred sixty-seven patients with skeletal dysplasia were identified. One hundred eleven patients had quality MR images. Forty-seven different skeletal dysplasias were observed. The mean conus level was found at the L-1 vertebral body. No difference was noted with respect to the age of the patients or the type of skeletal dysplasia. Two patients (1.7%) had a conus level lower than L-2. Conclusions Skeletal dysplasia leads to abnormal bone formation and can result in short stature. The location of the conus with respect to the vertebral bodies appears to be stable at the L-1 level regardless of patient age or the type of skeletal dysplasia involved. However, the appearance of a low-level conus and associated tethered cord syndrome may be slightly increased in this population.

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies

2021 ◽  
Author(s):  
Lucia Sentchordi-Montané ◽  
Sara Benito-Sanz ◽  
Miriam Aza-Carmona ◽  
Francisca Díaz-González ◽  
Silvia Modamio-Høybjør ◽  
...  
Keyword(s):  
Short Stature ◽  
Skeletal Dysplasia ◽  
Genetic Defect ◽  
Radiological Feature ◽  
Molecular Defect ◽  
Skeletal Dysplasias ◽  
Skeletal Anomalies ◽  
Radiological Data ◽  
High Prevalence ◽  
Next Generation Sequencing Ngs

Objective: Next generation sequencing (NGS) has expanded the diagnostic paradigm turning the focus to the growth plate. The aim of the study was to determine the prevalence of variants in genes implicated in skeletal dysplasias in probands with short stature and mild skeletal anomalies. Design: Clinical and radiological data were collected from 108 probands with short stature and mild skeletal anomalies. Methods: A customized skeletal dysplasia NGS panel was performed. Variants were classified using ACMG recommendations and Sherloc. Anthropometric measurements and skeletal anomalies were subsequently compared in those with or without an identified genetic defect. Results: Heterozygous variants were identified in 21/108 probands (19.4%). Variants were most frequently identified in ACAN (n=10) and IHH (n=7) whilst one variant was detected in COL2A1, CREBBP, EXT1 and PTPN11. Statistically significant differences (p<0.05) were observed for sitting height/height (SH/H) ratio, SH/H ratio SDS and the SH/H ratio SDS >1 in those with an identified variant compared to those without. Conclusions: A molecular defect was elucidated in a fifth of patients. Thus, the prevalence of mild forms of skeletal dysplasias is relatively high in individuals with short stature and mild skeletal anomalies, with variants in ACAN and IHH accounting for 81% of the cases. An elevated SH/H ratio appears to be associated with a greater probability in detecting a variant, but no other clinical or radiological feature has been found determinant to finding a genetic cause. Currently, we cannot perform extensive molecular studies in all short stature individuals so detailed clinical and radiological phenotyping may orientate which are the candidate patients to obtain worthwhile results. In addition, detailed phenotyping of probands and family members will often aid variant classification.

scholarly journals LO48: Pediatric cannabinoid hyperemesis syndrome in the emergency department: a 5-year retrospective review

CJEM ◽  
2020 ◽  
Vol 22 (S1) ◽  
pp. S24-S24
Author(s):  
D. Foster ◽  
K. Van Aarsen ◽  
J. Yan ◽  
J. Teefy ◽  
T. Lynch
Keyword(s):  
Emergency Department ◽  
Weight Loss ◽  
Abdominal Pain ◽  
Pediatric Patients ◽  
Venous Blood ◽  
Tertiary Care ◽  
Retrospective Chart Review ◽  
Cannabis Use ◽  
Discharge Diagnosis ◽  
Cannabinoid Hyperemesis Syndrome

Introduction: Cannabinoid Hyperemesis Syndrome (CHS) in pediatric patients is poorly characterized. Literature is scarce, making identification and treatment challenging. This study's objective was to describe demographics and visit data of pediatric patients presenting to the emergency department (ED) with suspected CHS, in order to improve understanding of the disorder. Methods: A retrospective chart review was conducted of pediatric patients (12-17 years) with suspected CHS presenting to one of two tertiary-care EDs; one pediatric and one pediatric/adult (combined annual pediatric census 40,550) between April 2014-March 2019. Charts were selected based on discharge diagnosis of abdominal pain or nausea/vomiting with positive cannabis urine screen, or discharge diagnosis of cannabis use, using ICD-10 codes. Patients with confirmed or likely diagnosis of CHS were identified and data including demographics, clinical history, and ED investigations/treatments were recorded by a trained research assistant. Results: 242 patients met criteria for review. 39 were identified as having a confirmed or likely diagnosis of CHS (mean age 16.2, SD 0.85 years with 64% female). 87% were triaged as either CTAS-2 or CTAS-3. 80% of patients had cannabis use frequency/duration documented. Of these, 89% reported at least daily use, the mean consumption was 1.30g/day (SD 1.13g/day), and all reported ≥6 months of heavy use. 69% of patients had at least one psychiatric comorbidity. When presenting to the ED, all had vomiting, 81% had nausea, 81% had abdominal pain, and 30% reported weight loss. Investigations done included venous blood gas (30%), pregnancy test in females (84%), liver enzymes (57%), pelvic or abdominal ultrasound (19%), abdominal X-ray (19%), and CT head (5%). 89% of patients received treatment in the ED with 81% receiving anti-emetics, 68% receiving intravenous (IV) fluids, and 22% receiving analgesics. Normal saline was the most used IV fluid (80%) and ondansetron was the most used anti-emetic (90%). Cannabis was suspected to account for symptoms in 74%, with 31% of these given the formal diagnosis of CHS. 62% of patients had another visit to the ED within 30 days (prior to or post sentinel visit), 59% of these for similar symptoms. Conclusion: This study of pediatric CHS reveals unique findings including a preponderance of female patients, a majority that consume cannabis daily, and weight loss reported in nearly one third. Many received extensive workups and most had multiple clustered visits to the ED.

scholarly journals Magnetic Resonance Imaging Analysis of Caudal Regression Syndrome and Concomitant Anomalies in Pediatric Patients

2016 ◽  
Vol 6 ◽  
pp. 36 ◽  
Author(s):  
Deb K Boruah ◽  
Dhaval D Dhingani ◽  
Sashidhar Achar ◽  
Arjun Prakash ◽  
Antony Augustine ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Pediatric Patients ◽  
Tertiary Care ◽  
Tethered Cord ◽  
Type I ◽  
Care Hospital ◽  
Resonance Imaging ◽  
Caudal Regression Syndrome ◽  
Caudal Regression

Objective: The aim of this study was to evaluate the magnetic resonance imaging (MRI) findings of caudal regression syndrome (CRS) and concomitant anomalies in pediatric patients. Materials and Methods: A hospital-based cross-sectional retrospective study was conducted. The study group comprised 21 pediatric patients presenting to the Departments of Radiodiagnosis and Pediatric Surgery in a tertiary care hospital from May 2011 to April 2016. All patients were initially evaluated clinically followed by MRI. Results: In our study, 21 pediatric patients were diagnosed with sacral agenesis/dysgenesis related to CRS. According to the Pang's classification, 2 (9.5%) patients were Type I, 5 (23.8%) patients were Type III, 7 (33.3%) patients were Type IV, and 7 (33.3%) patients were of Type V CRS. Clinically, 17 (81%) patients presented with urinary incontinence, 6 (28.6%) with fecal incontinence, 9 patients (42.9%) had poor gluteal musculatures and shallow intergluteal cleft, 7 (33.3%) patients had associated subcutaneous mass over spine, and 6 (28.6%) patients presented with distal leg muscle atrophy. MRI showed wedge-shaped conus termination in 5 (23.8%) patients and bulbous conus termination in 3 (14.3%) patients above the L1 vertebral level falling into Group 1 CRS while 7 (33.3%) patients had tethered cord and 6 (28.6%) patients had stretched conus falling into Group 2 CRS. Conclusion: MRI is the ideal modality for detailed evaluation of the status of the vertebra, spinal cord, intra- and extra-dural lesions and helps in early diagnosis, detailed preoperative MRI evaluation and assessing concomitant anomalies and guiding further management with early institution of treatment to maximize recovery.

scholarly journals Pediatric Avoidant-Restrictive Food Intake Disorder and gastrointestinal-related Somatic Symptom Disorders: Overlap in clinical presentation

2021 ◽  
pp. 135910452110481
Author(s):  
Katelynn E Boerner ◽  
Jennifer S Coelho ◽  
Fiza Syal ◽  
Deepika Bajaj ◽  
Natalie Finner ◽  
...  
Keyword(s):  
Food Intake ◽  
Somatic Symptom ◽  
Pediatric Patients ◽  
Clinical Presentation ◽  
Tertiary Care ◽  
Retrospective Chart Review ◽  
Lower Percentage ◽  
Liaison Psychiatry ◽  
Medical Diagnoses ◽  
Gi Symptoms

Certain presentations of Avoidant/Restrictive Food Intake Disorder (ARFID) and Somatic Symptom and Related Disorders (SSRDs) have conceptual overlap, namely, distress and impairment related to a physical symptom. This study compared characteristics of pediatric patients diagnosed with ARFID to those with gastrointestinal (GI)-related SSRD. A 5-year retrospective chart review at a tertiary care pediatric hospital comparing assessment data of patients with a diagnosis of ARFID ( n = 62; 69% girls, Mage = 14.08 years) or a GI-related SSRD ( n = 37; 68% girls, Mage = 14.25 years). Patients diagnosed with ARFID had a significantly lower percentage of median BMI than those with GI-related SSRD. Patients diagnosed with ARFID were most often assessed in the Eating Disorders Program, whereas patients diagnosed with an SSRD were most often assessed by Consultation-Liaison Psychiatry. Groups did not differ on demographics, psychiatric diagnoses, illness duration, or pre-assessment services/medications. GI symptoms were common across groups. Patients diagnosed with an SSRD had more co-occurring medical diagnoses. A subset (16%) of patients reported symptoms consistent with both diagnoses. Overlap is observed in the clinical presentation of pediatric patients diagnosed with ARFID or GI-related SSRD. Some group differences emerged, including anthropometric measurements and co-occurring medical conditions. Findings may inform diagnostic classification and treatment approach.

scholarly journals Acute Kidney Injury in Pediatric Treated with Vancomycin and Piperacillin-Tazobactam in Tertiary Care Hospital

2018 ◽  
Vol 2018 ◽  
pp. 1-7 ◽  
Author(s):  
Mohammed Al Nuhait ◽  
Laila C. Abu Esba ◽  
Khalid Al Harbi ◽  
Meshary Al Meshary ◽  
Rami T. Bustami
Keyword(s):  
Acute Kidney Injury ◽  
Pediatric Patients ◽  
Pediatric Population ◽  
Tertiary Care ◽  
Kidney Injury ◽  
Empirical Therapy ◽  
Retrospective Chart Review ◽  
Concomitant Treatment ◽  
Care Hospital ◽  
Increased Risk

Background. Vancomycin and piperacillin-tazobactam (PTZ) are commonly used as empirical therapy for patients with health care associated infections. Vancomycin has been recognized as a nephrotoxic agent and in a few cases in the literature PTZ has been associated with interstitial nephritis nevertheless; the combination of these agents has routinely been used for many years. However, there have been some observational studies that showed high rates of acute kidney injury (AKI) in patients receiving vancomycin and PTZ concomitant treatment compared to patients receiving vancomycin alone. The incidence of AKI in adult patients receiving vancomycin and PTZ concomitant treatment was reported in these studies to be relatively high. Similar studies in pediatric patients are lacking. Method. We conducted a single center retrospective chart review of 248 pediatric patients receiving one of the following treatments: vancomycin alone 36 patients, vancomycin/PTZ 62 patients, vancomycin/ceftazidime 99 patients, and vancomycin/ceftriaxone 51 patients. Result. Our results showed a low incidence of AKI in patients on vancomycin/PTZ concomitant treatment where overall incidence was only (4.8%) three cases and only one of them (2.0%) in a patient receiving the vancomycin/ceftriaxone concomitant treatment. No cases of AKI present in patients receiving vancomycin with ceftazidime or vancomycin alone. There were no statistically significant differences between the four treatment groups in terms of AKI incidence, vancomycin trough, and use of nephrotoxins. Conclusion. Overall, the incidence of AKI was low in our study sample with no statistically significant increased risk when PTZ was used in combination with vancomycin in a pediatric population. However, further investigation with an equal larger sample size is needed to confirm our findings.

CIScoSI Study [Children Immunization Status and cases of Systemic Illness]

2018 ◽  
Vol 3 (3) ◽  
Keyword(s):  
Infectious Diseases ◽  
East Asia ◽  
Pediatric Patients ◽  
Severe Disease ◽  
Tertiary Care ◽  
Immunization Coverage ◽  
South East Asia ◽  
Immunization Status ◽  
Tertiary Care Hospitals ◽  
Total Coverage

To determine the immunization status of pediatric patients under age of 5 years visiting pediatric department of tertiary care hospitals in South East Asia. The aim of this study was to appreciate the awareness and implementation of vaccination in pediatric patients who came into pediatric outpatient Department with presenting complain other than routine vaccination. we can also know the count of patients who do not complete their vaccination after birth. we can differentiate between vaccinated and unvaccinated patients and incidence of severe disease in both groups. Immunization is a protective process which makes a person resistant to the harmful diseases prevailing in the community, typically by vaccine administration either orally or intravenously. It is proven for controlling and eliminating many threatening diseases from the community. WHO report that licensed vaccines are available for the prevention of many infectious diseases. After the implementation of effective immunization the rate of many infectious diseases have declined in many countries of the world. South-East Asia is far behind in the immunization coverage. An estimated total coverage is 56%-88% for a fully immunized child, which is variable between countries. Also the coverage is highest for BCG and lowest for Polio.

Sign in / Sign up

Export Citation Format

Share Document