scholarly journals Ellis-van Creveld Syndrome: Mutations Uncovered in Lebanese Families

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Maria Valencia ◽  
Lara Tabet ◽  
Nadine Yazbeck ◽  
Alia Araj ◽  
Victor L. Ruiz-Perez ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Early Diagnosis ◽  
Autosomal Recessive ◽  
Medical Literature ◽  
Autosomal Recessive Disorder ◽  
Case Presentation ◽  
Homozygous Mutations ◽  
Ellis Van Creveld Syndrome ◽  
First Time

Background. Ellis-van Creveld (EvC) syndrome is a rare, autosomal recessive disorder characterized by short stature, short limbs, growth retardation, polydactyly, and ectodermal defects with cardiac anomalies occurring in around 60% of cases. EVC syndrome has been linked to mutations inEVCandEVC2genes.Case Presentation. We report EvC syndrome in two unrelated Lebanese families both having homozygous mutations in theEVC2gene, c.2653C>T (p.(Arg885*)) and c.2012_2015del (p.(Leu671*)) in exons 15 and 13, respectively, with the latter being reported for the first time.Conclusion. Although EvC has been largely described in the medical literature, clinical features of this syndrome vary. While more research is required to explore other genes involved in EvC, early diagnosis and therapeutic care are important to achieve a better quality of life.

scholarly journals First case of COVID-19 infection in a adult patient with Ellis-van Creveld Syndrome

2021 ◽  
Author(s):  
Isabelle Piazza ◽  
Paolo Ferrero
Keyword(s):  
Autosomal Recessive ◽  
Ectodermal Dysplasia ◽  
Heart Defects ◽  
Autosomal Recessive Disorder ◽  
Endocardial Cushions ◽  
Specific Therapy ◽  
Case Presentation ◽  
Septal Defects ◽  
First Case ◽  
Ellis Van Creveld Syndrome

Abstract Background: Ellis-van Creveld syndrome (EVC) is a rare autosomal recessive disorder, the features of the syndrome are: chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation resulting in dwarfism, teeth and craniofacial abnormalities and heart defects (mostly endocardial cushions and atrial septal defects). Case presentation: We describe the first case of COVID-19 infection in a 24-years-old girl, diagnosed with EVC syndrome. The patient suffered only from a mild illness, she remained stable with normal saturation without need of neither respiratory support nor specific therapy and she was rapidly discharged.Conclusions: This case appraises the pathophiosiologic interplay between different specific prognostic variable in a syndromic patient with congenital heart disease and COVID-19.

Resveratrol: A new potential therapeutic agent for melanoma?

2019 ◽  
Vol 26 ◽  
Author(s):  
Mohamad Hossein Pourhanifeh ◽  
Kazem Abbaszadeh-Goudarzi ◽  
Mohammad Goodarzi ◽  
Sara G.M. Piccirillo ◽  
Alimohammad Shafiee ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Therapeutic Agent ◽  
Current Knowledge ◽  
Treatment Resistance ◽  
Anti Cancer ◽  
Apoptosis Inducer ◽  
Life Threatening ◽  
First Time

: Melanoma is the most life-threatening and aggressive class of skin malignancies. The incidence of melanoma has steadily increased. Metastatic melanoma is greatly resistant to standard anti-melanomatreatments such as chemotherapy, and 5-year survival rate of cases with melanoma who have metastatic form of disease is less than 10%. The contributing role of apoptosis, angiogenesis and autophagy in the pathophysiology of melanoma has been previously demonstrated. Thus, it is extremely urgent to search for complementary therapeutic approachesthat couldenhance the quality of life of subjects and reduce treatment resistance and adverse effects. Resveratrol, known as a polyphenol component present in grapes and some plants, has anti-cancer properties due to its function as an apoptosis inducer in tumor cells, and anti-angiogenic agent to prevent metastasis. However, more clinical trials should be conducted to prove resveratrol efficacy. : Herein, for first time, we summarize current knowledge of anti-cancerous activities of resveratrol in melanoma.

scholarly journals Evaluation of the efficacy of hearing aids in older adults: a multiparametric longitudinal study protocol

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Domenico Cuda ◽  
Sara Ghiselli ◽  
Alessandra Murri
Keyword(s):  
Quality Of Life ◽  
Older Adults ◽  
Speech Perception ◽  
Hearing Aids ◽  
Assessment Tools ◽  
Elderly Subjects ◽  
Single Subject ◽  
Measurement Tools ◽  
First Time

Abstract Background Prevalence of hearing loss increases with age. Its estimated prevalence is 40–50 % in people over 75 years of age. Recent studies agree that declinein hearing threshold contribute to deterioration in sociality, sensitivity, cognition, and quality of life for elderly subjects. The aim of the study presented in this paper is to verify whether or not rehabilitation using first time applied Hearing Aids (HA) in a cohort of old people with hearing impairment improves both speech perception in a noisy environment over time and the overall health-related quality of life. Methods The monocentric, prospective, repeated measurements, single-subject, clinical observational study is to recruit 100 older adults, first-time HA recipients (≥ 65 years).The evaluation protocol is designed to analyze changes in specific measurement tools a year after the first HA usage in comparison with the evaluation before HA fitting. Evaluations will consist of multiparametric details collected through self-report questionnaires completed by the recipients and a series of commonly used audiometric measures and geriatric assessment tools. The primary indicator of changes in speech perception in noise to be used is the Italian version of Oldenburg Satz (OLSA) test whereas the indicator of changes in overall quality of life will be the Assessment of Quality of Life (AQoL) and Hearing Handicap Inventory for the Elderly (HHIE) questionnaires. The Montreal Cognitive Assessment (MoCA) will help in screening the cognitive state of the subjects. Discussion The protocol is designed to make use of measurement tools that have already been applied to the hearing-impaired population in order to compare the effects of HA rehabilitation in the older adults immediately before first HA usage (Pre) and after 1 year of experience (Post). This broad approach will lead to a greater understanding of how useful hearing influences the quality of life in older individuals, and therefore improves potentials for healthy aging. The data is to be analyzed by using an intrasubject endpoint comparison. Outcomes will be described and analyzed in detail. Trial registration This research was retrospectively registered underno. NCT04333043at ClinicalTrials.gov (http://www.clinicaltrials.gov/) on the 26 March 2020. This research has been registered with the Ethics Committee of the Area Vasta Emilia Nord under number 104, date of approval 17/07/2017.

scholarly journals Inappropriate surgery in a patient with misdiagnosed Robert’s uterus

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Iori Kisu ◽  
Kanako Nakamura ◽  
Tetsuro Shiraishi ◽  
Tomoko Iijima ◽  
Moito Iijima ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Uterine Wall ◽  
Septate Uterus ◽  
Case Presentation ◽  
Surgical Interventions ◽  
Unicornuate Uterus ◽  
Uterine Malformation ◽  
Mullerian Anomaly ◽  
Future Pregnancy

Abstract Background Robert’s uterus is a rare Mullerian anomaly, which can be described as an asymmetric, septate uterus with a non-communicating hemicavity. Herein, we present the case of a misdiagnosed Robert’s uterus, resulting in an invasive and disadvantageous surgery. Case presentation A 16-year-old woman was referred to our department because of dysmenorrhea and suspicion of uterine malformation. We misdiagnosed Robert’s uterus as a unicornuate uterus with a non-communicating rudimentary horn and hematometra, and performed laparoscopic hemi-hysterectomy. Although the patient’s symptoms were relieved, our surgical procedure left the lateral uterine wall weak, making the patient’s uterus susceptible to uterine rupture in any future pregnancy. Conclusions Although the early diagnosis of Robert’s uterus is challenging, it is important in order to determine appropriate surgical interventions and management for maintaining the quality of life and ensuring safety in future pregnancies.

scholarly journals Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Samina Yasin ◽  
Outi Makitie ◽  
Sadaf Naz
Keyword(s):  
Short Stature ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Loss Of Function ◽  
Case Presentation ◽  
Pathogenic Variants ◽  
Skeletal Malformations ◽  
Tarsal Bones ◽  
The Family ◽  
Heterozygous Carriers

Abstract Background Loss of function or gain of function variants of Filamin B (FLNB) cause recessive or dominant skeletal disorders respectively. Spondylocarpotarsal synostosis syndrome (SCT) is a rare autosomal recessive disorder characterized by short stature, fused vertebrae and fusion of carpal and tarsal bones. We present a novel FLNB homozygous pathogenic variant and present a carrier of the variant with short height. Case presentation We describe a family with five patients affected with skeletal malformations, short stature and vertebral deformities. Exome sequencing revealed a novel homozygous frameshift variant c.2911dupG p.(Ala971GlyfsTer122) in FLNB, segregating with the phenotype in the family. The variant was absent in public databases and 100 ethnically matched control chromosomes. One of the heterozygous carriers of the variant had short stature. Conclusion Our report expands the genetic spectrum of FLNB pathogenic variants. It also indicates a need to assess the heights of other carriers of FLNB recessive variants to explore a possible role in idiopathic short stature.

scholarly journals Quality of life in patients at first time visit for sleep disorders of breathing at a sleep centre

2013 ◽  
Vol 11 (1) ◽  
pp. 207 ◽  
Author(s):  
Serena Iacono Isidoro ◽  
Adriana Salvaggio ◽  
Anna Lo Bue ◽  
Salvatore Romano ◽  
Oreste Marrone ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Sleep Disorders ◽  
First Time

Quality of life in adolescents and young adults with CHD is not reduced: a systematic review and meta-analysis

2015 ◽  
Vol 26 (3) ◽  
pp. 415-425 ◽  
Author(s):  
Morten Schrøder ◽  
Kirsten A. Boisen ◽  
Jesper Reimers ◽  
Grete Teilmann ◽  
Jesper Brok
Keyword(s):  
Quality Of Life ◽  
Systematic Review ◽  
Young Adults ◽  
Meta Analysis ◽  
Adolescents And Young Adults ◽  
Analysis Model ◽  
Significant Difference ◽  
Newcastle Ottawa Scale ◽  
First Time

AbstractPurposeWe performed a systematic review and meta-analysis of observational studies assessing quality of life in adolescents and young adults born with CHD compared with age-matched controls.MethodsWe carried out a systematic search of the literature published in Medline, Embase, PsychINFO, and the Cochrane Library’s Database (1990–2013); two authors independently extracted data from the included studies. We used the Newcastle–Ottawa scale for quality assessment of studies. A random effects meta-analysis model was used. Heterogeneity was assessed using the I2-test.ResultsWe included 18 studies with 1786 patients. The studies were of acceptable-to-good quality. The meta-analysis of six studies on quality of life showed no significant difference – mean difference: −1.31; 95% confidence intervals: −6.51 to +3.89, I2=90.9% – between adolescents and young adults with CHD and controls. Similar results were found in 10 studies not eligible for the meta-analysis. In subdomains, it seems that patients had reduced physical quality of life; however, social functioning was comparable or better compared with controls.ConclusionFor the first time in a meta-analysis, we have shown that quality of life in adolescents and young adults with CHD is not reduced when compared with age-matched controls.

scholarly journals Osteoarthritis in pet guinea pigs: an update on diagnosis, treatment and management

2021 ◽  
Vol 26 (6) ◽  
pp. 100-106
Author(s):  
Emma Keeble
Keyword(s):  
Quality Of Life ◽  
Early Diagnosis ◽  
Guinea Pigs ◽  
Advanced Disease ◽  
Early Stage ◽  
Clinical Signs ◽  
Nutritional Supplements ◽  
Lifestyle Changes ◽  
Early Age

This article reviews the current literature on osteoarthritis in pet and laboratory guinea pigs. The associated clinical signs, diagnosis and treatment of osteoarthritis in pet guinea pigs will be discussed, with options for analgesia detailed. This condition is thought to be common in pet guinea pigs, even from an early age in some genetic lines, although osteoarthritis often goes undiagnosed in this species until advanced disease is present, posing a major welfare concern. Increasing awareness of this condition in veterinary practitioners should aid early diagnosis in pets and help improve their quality of life. Prevention may be possible using oral protective nutritional supplements to slow down the progression of this disease at an early stage. Lifestyle changes are also discussed for the management of this condition in pet guinea pigs.

Molecular genetic diagnostics of Bardet-Biedl syndrome with an MPS-panel

2021 ◽  
pp. 26-35
Author(s):  
М.Д. Орлова ◽  
П. Гундорова ◽  
А.В. Поляков
Keyword(s):  
Autosomal Recessive ◽  
Molecular Genetic ◽  
Autosomal Recessive Disorder ◽  
Genetic Diagnostics ◽  
Bardet Biedl Syndrome ◽  
Pathogenic Variants ◽  
Development Delay ◽  
Molecular Genetic Diagnostics ◽  
First Time

Синдром Барде-Бидля - аутосомно-рецессивное заболевание, характеризующееся ожирением, пигментной дегенерацией сетчатки, полидактилией, задержкой психоречевого развития и структурными повреждениями почек. В работе представлены результаты применения МПС-панели, включающей кодирующие последовательности и прилегающие интронные области 21 гена, ассоциированного с синдромом Барде-Бидля. Впервые была проведена молекулярно-генетическая диагностика в группе из сорока российских пациентов с синдромом Барде-Бидля из неродственных семей. В результате исследования удалось подтвердить диагноз молекулярно-генетическим методом у 40% пациентов (n=16). В генах BBS1, BBS7 и BBS10 встретились повторяющиеся варианты. Частота встречаемости патогенных и вероятно патогенных вариантов в генах BBS1 и BBS10 у российских пациентов соответствует зарубежным данным. Варианты в гене BBS7 встретились у пяти человек, у четырех из них был обнаружен патогенный вариант c.1967_1968delTAinsC, не встречающийся в других популяциях. Результаты, представленные в статье, показывают значительный вклад в заболеваемость синдромом Барде-Бидля в российской популяции патогенных вариантов в гене BBS7. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by obesity, retinitis pigmentosa, polydactyly, development delay, and structural kidney defects. This study shows the results of using an MPS panel that includes coding sequences and intronic areas of 21 genes associated with Bardet-Biedl syndrome. For the first time molecular genetic testing has been provided for the group of 40 Russian patiens with Bardet-Biedl syndrome from unrelated families. As a result of the testing, diagnoses were confirmed for 40% of the patients (n=16). The genes BBS1, BBS7, BBS10 had recurrent variants. The frequency of pathogenic and likely pathogenic variants in the genes BBS1 and BBS10 among Russian patients matches the research data in other countries. Variants in the BBS7 gene were found for five people, four of them had a pathogenic variant c.1967_1968delTAinsC, which is not present among other populations. Results provided in this article show the significant role of pathogenic variants in the BBS7 gene in patients with Bardet-Biedl syndrome in Russian population.

Ellis-van Creveld Syndrome and Dyserythropoiesis

2005 ◽  
Vol 129 (5) ◽  
pp. 680-682 ◽  
Author(s):  
Deven Scurlock ◽  
Daniel Ostler ◽  
Andy Nguyen ◽  
Amer Wahed
Keyword(s):  
Myelodysplastic Syndrome ◽  
Autosomal Recessive ◽  
Ectodermal Dysplasia ◽  
Case Reports ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Clinical Findings ◽  
Cardiac Defects ◽  
Ellis Van Creveld Syndrome ◽  
Syndrome Association

Abstract Ellis-van Creveld (EVC) syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder characterized by a variable spectrum of clinical findings. Classical EVC syndrome comprises a tetrad of clinical manifestations of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac defects. In several case reports, dysplasia involving other organs has also been identified. Hematologic abnormalities have been rarely reported in patients with EVC syndrome. Here, we report a case of a 3-year-old Hispanic boy with EVC syndrome and marked dyserythropoiesis. The dyserythropoiesis may be part of an isolated myelodysplastic change or a primary myelodysplastic syndrome and likely represents an unusual EVC syndrome association. To our knowledge, this association has not been previously reported.

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