scholarly journals Genotype–Phenotype Correlations in Children with HHT

2020 ◽  
Vol 9 (9) ◽  
pp. 2714 ◽  
Author(s):  
Alexandra Kilian ◽  
Giuseppe Latino ◽  
Andrew White ◽  
Dewi Clark ◽  
Murali Chakinala ◽  
...  
Keyword(s):  
Pediatric Patients ◽  
Autosomal Dominant ◽  
Vascular Malformations ◽  
Genetic Data ◽  
Chi Square ◽  
Chi Square Test ◽  
Dominant Disease ◽  
The Central Nervous System ◽  
Age Range ◽  
Rare Autosomal Dominant Disease

Hereditary hemorrhagic telangiectasia (HHT), a rare autosomal dominant disease mostly caused by mutations in three known genes (ENG, ACVRL1, and SMAD4), is characterized by the development of vascular malformations (VMs). Patients with HHT may present with mucocutaneous telangiectasia, as well as organ arteriovenous malformations (AVMs) of the central nervous system, lungs, and liver. Genotype–phenotype correlations have been well described in adults with HHT. We aimed to investigate genotype–phenotype correlations among pediatric HHT patients. Demographic, clinical, and genetic data were collected and analyzed in 205 children enrolled in the multicenter Brain Vascular Malformation Consortium HHT Project. A chi-square test was used to determine the association between phenotypic presentations and genotype. Among 205 patients (age range: 0–18 years; mean: 11 years), ENG mutation was associated with the presence of pulmonary AVMs (p < 0.001) and brain VM (p < 0.001). The presence of a combined phenotype—defined as both pulmonary AVMs and brain VMs—was also associated with ENG mutation. Gastrointestinal bleeding was rare (4.4%), but was associated with SMAD4 genotype (p < 0.001). We conclude that genotype–phenotype correlations among pediatric HHT patients are similar to those described among adults. Specifically, pediatric patients with ENG mutation have a greater prevalence of pulmonary AVMs, brain VMs, and a combined phenotype.

scholarly journals Symptoms of Poststroke Depression among Stroke Survivors: An Appraisal of Psychiatry Needs and Care during Physiotherapy Rehabilitation

Scientifica ◽  
2016 ◽  
Vol 2016 ◽  
pp. 1-6 ◽  
Author(s):  
Sam Chidi Ibeneme ◽  
Canice Chukwudi Anyachukwu ◽  
Akachukwu Nwosu ◽  
Georgian Chiaka Ibeneme ◽  
Muideen Bakare ◽  
...  
Keyword(s):  
Stroke Survivors ◽  
Poststroke Depression ◽  
Chi Square ◽  
Outpatient Unit ◽  
Psychiatry Review ◽  
Mini Mental Status Examination ◽  
Chi Square Test ◽  
Nigeria Teaching Hospital ◽  
Multiple Case ◽  
Age Range

Purpose. To identify stroke survivors with symptoms of poststroke depression and the extent of psychiatry needs and care they have received while on physiotherapy rehabilitation.Participants. Fifty stroke survivors (22 females and 28 males) at the outpatient unit of Physiotherapy Department, University of Nigeria Teaching Hospital, Enugu, who gave their informed consent, were randomly selected. Their age range and mean age were 26–66 years and54.76±8.79years, respectively.Method. A multiple case study of 50 stroke survivors for symptoms of poststroke depression was done with Beck’s Depression Inventory, mini mental status examination tool, and Modified Motor Assessment Scale. The tests were performed independently by the participants except otherwise stated and scored on a scale of 0–6. Data were analyzed usingZ-test for proportional significance and chi-square test for determining relationship between variables, atp<0.05.Results. Twenty-one (42.0%) stroke survivors had symptoms of PSD, which was significantly dependent on duration of stroke (χ2= 21.680, df = 6, andp=0.001), yet none of the participants had a psychiatry review.Conclusions. Symptoms of PSD may be common in cold compared to new cases of stroke and may need psychiatry care while on physiotherapy rehabilitation.

scholarly journals Maximum Voluntary Molar and Incisor Biting Force and Morphological Variables in Subjects With Different Vertical Skeletal Patterns

2021 ◽  
pp. 030157422110448
Author(s):  
Ankita Singh ◽  
Pradeep Tandon ◽  
Dipti Shastri
Keyword(s):  
Chi Square ◽  
Skeletal Class ◽  
Gender Influence ◽  
Custom Made ◽  
Chi Square Test ◽  
Facial Pattern ◽  
Morphological Variables ◽  
The Right ◽  
Age Range ◽  
Male Subjects

Objective: To estimate the maximum voluntary molar biting force (MBF) and incisor biting force (IBF) and their relationship to morphological variables in subjects with different vertical skeletal patterns. Materials and Methods: Maximum voluntary MBF, IBF, and morphological variables were recorded in 120 subjects (60 males and 60 females) with skeletal class I pattern in the age range of 14 to 24 years. All subjects were divided into 3 groups: Normodivergent, hypodivergent, and hyperdivergent, according to the maxillomandibular plane angle and Jarabak ratio. Bite force measurements were undertaken using a custom-made portable digital gnathodynamometer on the left and the right sides of the jaw in the molar and incisor regions during maximal clenching. Statistical analysis was performed using independent t-test, chi-square test, and ANOVA test using SPSS version 22.0.0.0 software. Results: MBF and IBF are influenced by gender with higher values obtained for male subjects in all groups in the following order: hypodivergent > normodivergent > hyperdivergent. No significant changes were seen with morphological variables in different groups. Conclusion: Molar and incisor biting forces are highest in hypodivergent subjects and least in hyperdivergent subjects as a reflection of jaw morphology and muscular efficiency. In all groups, males exhibit higher force values than females, underlining a strong gender influence on biting force and facial pattern.

scholarly journals Clinical and Electroencephalographic Profile Of Children

2015 ◽  
Vol 11 (2) ◽  
pp. 110-116
Author(s):  
N Limbu ◽  
BH Paudel ◽  
D Thakur
Keyword(s):  
Cerebral Palsy ◽  
Febrile Seizure ◽  
Pediatric Patients ◽  
Birth Asphyxia ◽  
Seizure Disorder ◽  
Chi Square ◽  
Demographic Profiles ◽  
Epileptiform Discharges ◽  
Chi Square Test ◽  
The Relationship

Background Reports on pediatric electroencephalogram of Nepalese patients are rare. Objective We aimed to study the relationship between provisional clinical and electrophysiological diagnoses of pediatric patients with documentation of demographic profiles, and type and frequency of the disorders/diseases. Methods Electroencephalographic reports of 634 children from 2006 to 2009 were analyzed at neurophysiology laboratory, department of Basic and Clinical Physiology, B. P. Koirala Institute of Health Sciences, Dharan, Nepal, retrospectively. Chi-Square test was applied after detail descriptive statistics. Results Male and female were 72.2 % (n=458/634) and 27.76 % (n=176/634) respectively. Most frequent EEG abnormality was seizure disorder (n=370, 59.39%), then febrile seizure (n= 94, 15.08%) and birth asphyxia with hypoxic-induced encephalopathy (n=68, 10.91%). Electroencephalogram showed significant epileptiform discharges in seizure disorder (p=0.001, OR= 2.26, 95 % CI= 1.61 to 3.18) and in cerebral palsy (p=0.049, OR=6.88, 95 % CI=0.89 to 145.95), specifically in 6 to 12 (p=0.001, OR=2.94, 95 % CI=1.43 to 6.06) and one to five (p=0.019) years, respectively. Electroencephalogram detected significantly less epileptiform discharges (p=0.001, OR=0.25, 95 % CI= 0.15 to 0.42) in febrile seizure specifically in 1 to 5 years (p=0.003, OR=0.16, 95 % CI= 0.04 to 0.63). Conclusion Predominant Electroencephalographic abnormality was seizure disorder, followed by febrile seizure and birth asphyxia with hypoxic-induced encephalopathy respectively. Electroencephalographic abnormality was highly associated with seizure disorder and cerebral palsy but was not associated with febrile seizure. DOI: http://dx.doi.org/10.3126/kumj.v11i2.12484 Kathmandu University Medical Journal Vol.11(2) 2013: 110-116

scholarly journals ULTRASOUND PREDICTABILITY OF LOWER UTERINE SEGMENT CESAREAN SECTION SCAR THICKNESS

2020 ◽  
pp. 9-11
Author(s):  
Madhu Kumari ◽  
Kumari Bibha ◽  
Abha Sinha ◽  
Debarshi Jana
Keyword(s):  
Cesarean Section ◽  
Gestational Age ◽  
Statistical Significance ◽  
P Value ◽  
Chi Square ◽  
Medical College ◽  
Chi Square Test ◽  
Uterine Scar ◽  
Age Range ◽  
The Given

Objective: The objective of this study is to find out association between scar thickness, assessed sonographically, and intraoperative findings (IOF). Study Design: Descriptive study. Place and Duration of Study: Department of Obstetrics and Gynecology, Sri Krishna Medical College and Hospital, Muzaffarpur, Bihar from June 2019 to May 2020. Methodology: A total of 70 pregnant patients were included in this study. Transabdominal ultrasound was done for scarred uteri. Sonographic findings were co-related with introperative findings. All the given data were entered on SPSS version 23. Age was expressed as mean ± SD. Parity, gestational age, and interval between cesarean sections were expressed as frequencies with percentages. Statistical analysis was done by using Chi-square test for categorical data for association between sonographic scar thickness and intraoperative findings. The statistical significance was set at p-value <0.05. Results: The age range of the patients was 20- 36 years with a mean of 27.91 ±3.690 years. Gestational age at the time of cesarean section was between 27-40 weeks of gestation with a mean of 37 ±2.126 weeks. The interval from previous cesarean was 10 months at the minimum, and 6 years at the maximum with a mean of 2.29 ±1.0 months. Mean scar thickness was 2.5 mm. Association between scar thickness (<1-3 mm) and intaoperative findings of dehiscence and rupture showed a p-value of <0.001. Conclusion: Sonographic assessment of a uterine scar has a practical application to determine the thickness of previous scar, and assess its integrity.

scholarly journals Parotid Oncocytoma as a Manifestation of Birt-Hogg-Dubé Syndrome

2018 ◽  
Vol 2018 ◽  
pp. 1-7
Author(s):  
Kazuki Yoshida ◽  
Masao Miyagawa ◽  
Teruhito Kido ◽  
Kana Ide ◽  
Yoshifumi Sano ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Autosomal Dominant ◽  
Case Reports ◽  
Imaging Features ◽  
Resonance Imaging ◽  
Rare Disorders ◽  
Pulmonary Cysts ◽  
Dominant Disease ◽  
Rare Autosomal Dominant Disease

Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disease characterized by skin fibrofolliculomas, pulmonary cysts, spontaneous pneumothoraces, and renal cancers. Oncocytomas are benign epithelial tumors that are also rare. Recently, there have been a few case reports of BHD with a parotid oncocytoma that appears to have a BHD phenotype. Here we document the eighth known case and describe the magnetic resonance imaging features of the parotid oncocytoma, which mimicked Warthin’s tumor. Radiologists should be aware of the association between these rare disorders.

scholarly journals Developmental timing of CCM2 loss influences cerebral cavernous malformations in mice

2011 ◽  
Vol 208 (9) ◽  
pp. 1835-1847 ◽  
Author(s):  
Gwénola Boulday ◽  
Noemi Rudini ◽  
Luigi Maddaluno ◽  
Anne Blécon ◽  
Minh Arnould ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Vascular Malformations ◽  
Vascular Lesions ◽  
Developmental Timing ◽  
Cerebral Cavernous Malformations ◽  
Loss Of Function ◽  
Cavernous Malformations ◽  
The Central Nervous System ◽  
Dominant Condition

Cerebral cavernous malformations (CCM) are vascular malformations of the central nervous system (CNS) that lead to cerebral hemorrhages. Familial CCM occurs as an autosomal dominant condition caused by loss-of-function mutations in one of the three CCM genes. Constitutive or tissue-specific ablation of any of the Ccm genes in mice previously established the crucial role of Ccm gene expression in endothelial cells for proper angiogenesis. However, embryonic lethality precluded the development of relevant CCM mouse models. Here, we show that endothelial-specific Ccm2 deletion at postnatal day 1 (P1) in mice results in vascular lesions mimicking human CCM lesions. Consistent with CCM1/3 involvement in the same human disease, deletion of Ccm1/3 at P1 in mice results in similar CCM lesions. The lesions are located in the cerebellum and the retina, two organs undergoing intense postnatal angiogenesis. Despite a pan-endothelial Ccm2 deletion, CCM lesions are restricted to the venous bed. Notably, the consequences of Ccm2 loss depend on the developmental timing of Ccm2 ablation. This work provides a highly penetrant and relevant CCM mouse model.

scholarly journals Prevalence of Allergic Rhinitis in Children with Adenotonsillar Hypertrophy Referred to Imam Khomeini Hospital of Ahvaz from 2019 to 2020

2021 ◽  
Vol 10 (2) ◽  
Author(s):  
Soheila Nikakhlagh ◽  
Shohreh Norouzi ◽  
Nader Saki ◽  
Mohammad Bagher Bakhshipour
Keyword(s):  
Allergic Rhinitis ◽  
Strong Association ◽  
Allergic Diseases ◽  
P Value ◽  
Chi Square ◽  
Exact Test ◽  
Adenotonsillar Hypertrophy ◽  
Chi Square Test ◽  
Main Components ◽  
Age Range

Background: Allergic diseases are among the most common chronic conditions in pediatrics. Objectives: This study aimed to evaluate the relative frequency of allergic rhinitis (AR) in children with adenotonsillar hypertrophy. Methods: In this descriptive study, 175 patients with adenotonsillar hypertrophy referred to the Imam Khomeini hospital of Ahvaz from March 2019 to March 2020 were enrolled. Allergic rhinitis was diagnosed based on the Score for AR (SFAR) questionnaire. The questionnaire, including the expert-designed SFAR, has eight main components that evaluate eight quantitative features of AR, and each was designated with a specific weighted score based on previous clinical studies. The total score could vary from 0 to 16. Frequency and percentage were used to describe the data. The chi-square test and Fisher's exact test were used to analyze the data. Results: One hundred seventy-five patients with adenotonsillar hypertrophy in the age range of 1 to 17 years were studied. Ninety-one patients (52%) were male, and 84 patients (48%) were female. Based on the score obtained from the questionnaire, 146 patients (83.4%) had a score of less than seven, indicating susceptibility to AR. Twenty-nine patients (16.6%) had a score equal to or higher than 7, confirming the diagnosis of AR. The Chi-square test showed that AR was significantly associated with all the components of the questionnaire, except for cigarette smoking (P-value < 0.001). Conclusions: This study showed the strong association of AR with some demographic factors. Allergic rhinitis could potentially increase the risk of adenotonsillar hypertrophy in children.

scholarly journals Full outline of unresponsiveness score as a predictor of outcomes in critically ill pediatric patients

2020 ◽  
Vol 60 (2) ◽  
pp. 77-82
Author(s):  
Novita Purnamasari Assa ◽  
Dyah Kanya Wati ◽  
Ida Bagus Subanada ◽  
Soetjiningsih Soetjiningsih ◽  
Made Kardana ◽  
...  
Keyword(s):  
Multivariate Analysis ◽  
Critically Ill ◽  
Pediatric Patients ◽  
Pediatric Intensive Care ◽  
Bivariate Analysis ◽  
Chi Square ◽  
Risk Of Death ◽  
Good Ability ◽  
Chi Square Test ◽  
Four Score

Background Mortality predictions are very important for improving service quality in the pediatric intensive care unit (PICU). The full outline of unresponsiveness (FOUR) is a new coma scale and is considered capable of predicting mortality and outcome. Objective To assess the ability of FOUR scores to predict outcomes of critically ill patients in the PICU. Methods This prospective cohort study included children aged 1 months - 18 years who were admitted to the PICU. Subjects were assessed by FOUR, grouped into score < 9 or score >9, and followed until outcomes were obtained. Bivariate analysis to assess the risk of death was made by cross-tabulation and the strength of the association in the form of risk ratio by Chi-square test. Multivariate analysis was done by logistic regression test. Results Of 94 subjects, 47 had FOUR scores ≤9 and 47 subjects had FOUR >9. Bivariate analysis revealed that PICU patients with FOUR score ≤9 had a higher risk of death than those with FOUR score >9 (RR 12.5; 95%CI 3.1 to 49.8; P<0.0001). Multivariate analysis revealed that FOUR score, length of stay ≤7 days, and non-surgical disease significantly increased the risk of mortality in PICU patients (by 42.8 times, 8.9 times, and 5.9 times, respectively). Conclusion The FOUR scores have good ability to predict the outcomes of critically ill pediatric patients. A FOUR score ≤9 at the beginning of treatment is significantly associated with the outcome of mortality during treatment in the PICU.

scholarly journals Who were those MEN hiding behind the Ulcers?: A Case Report

2020 ◽  
Vol 35 (2) ◽  
pp. 210-214
Author(s):  
Shazatul Reza Binti Mohd Redzuan ◽  
◽  
Yong Sy Liang
Keyword(s):  
Disease Progression ◽  
Mesenteric Artery ◽  
Maintenance Treatment ◽  
Autosomal Dominant ◽  
Multiple Endocrine Neoplasia Type ◽  
Rare Condition ◽  
Octreotide Lar ◽  
Dominant Disease ◽  
Rare Autosomal Dominant Disease

Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant disease caused by a mutation in the MEN1 gene. We present a 65-year-old man with MEN1 who has primary hyperparathyroidism, microprolactinoma, meningioma and gastrinoma. He had undergone parathyroidectomy followed by tumour excision of meningioma. The duodenal gastrinoma lesion was inoperable as it was close to the superior mesenteric artery with high surgery risk. Medical therapy with octreotide LAR had been initiated and showed good biochemical response as well as disease progression control. Chemoembolization was proposed if the duodenum lesion reduces in size on maintenance treatment with octreotide LAR. This case highlights the challenges in managing this rare condition and octreotide LAR has shown to be effective in controlling the disease progression in MEN1 with inoperable gastrinoma.

scholarly journals RELATIVE AGE EFFECT AMONG YOUNG CROATIAN TAEKWONDO COMPETITORS

2021 ◽  
pp. 86-89
Author(s):  
Matej Babić ◽  
Dražen Čular ◽  
Igor Jelaska
Keyword(s):  
Age Effect ◽  
Chi Square ◽  
Weight Category ◽  
Relative Age ◽  
Relative Age Effect ◽  
Significant Difference ◽  
Chi Square Test ◽  
Age Range ◽  
Effect Of Age ◽  
Selection Of

Aim of this research was to identify and analyse relative age effect (RAE) on sample composed of young Croatian taekwondo competitors. In order with aim of research, for medal winners (n1=72) and other competitors (n2=187) who competed at Croatian taekwondo cadet championship 2015, date of birth, weight category and sport success were extracted. By conducting of Chi-square test on all competitors (n=259) it is proven there is non-significant difference (χ2=12.28; p=0.34) between expected and observed frequencies according to month of birth. Furthermore, significant difference between observed and expected frequencies according to year of birth of medal winners (χ2=45.31; p<0.01) is confirmed. Results of this research are pointing on presence of RAE which could lead to mistakes in selection of young athletes. Authors are suggesting to minimize allowed age range for competition, or to separate competitors in more age categories, which would enable more equal competitions and reduce effect of age on sport success.

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