scholarly journals Congenital and Developmental Abnormalities of the Hand and Wrist

2021 ◽  
Vol 25 (02) ◽  
pp. 260-271
Author(s):  
Filip M. Vanhoenacker ◽  
Paolo Simoni ◽  
Frederik Bosmans ◽  
Nathalie Boutry
Keyword(s):  
Genetic Counseling ◽  
Correct Diagnosis ◽  
Genetic Tests ◽  
Developmental Abnormalities ◽  
Skeletal Dysplasias ◽  
Skeletal Abnormalities

AbstractIdentification of congenital skeletal abnormalities is complex because of the large variety of individual syndromes and dysplasias that are often difficult to remember. Although a correct diagnosis relies on a combination of clinical, radiologic, and genetic tests, imaging plays an important role in selecting those patients who should be referred for further genetic counseling and expensive genetic tests. In addition to information derived from radiologic analysis of other skeletal elements, radiographs of the hand and wrist may provide particular useful information. In the first part of this article, we provide a guide for a systematic radiologic analysis of the hand and wrist bones that may help characterize congenital and developmental diseases. Special attention is given to the use of correct terminology. In the second part, we discuss typical examples of congenital and developmental diseases involving the hand and wrist, with an emphasis on skeletal dysplasias.

scholarly journals Knowledge and attitude toward genetic diseases and genetic tests among pre-marriage individuals: A cross-sectional study in northern Iran

2019 ◽  
Author(s):  
Mohammad Bagher Hashemi-Soteh ◽  
Ali Vali Nejad ◽  
Golamreza Ataei ◽  
Dariush Ghasemi ◽  
Rita Siamy
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Genetic Diseases ◽  
Cross Sectional Study ◽  
Or Education ◽  
Genetic Tests ◽  
Northern Iran ◽  
Cross Sectional ◽  
Hereditary Disorders ◽  
Knowledge And Attitude

Background: Genetic testing has been widely introduced for many hereditary disorders. While the attitudes towards these facilities have been evaluated in many countries, there are only a few reports on the knowledge of and the orientation among Iranians. Objective: The current study assesses the attitudes and knowledge of pre-marriage individuals toward the availability and use of genetic tests. Materials and Methods: A comprehensive questionnaire was distributed among 408 marrying individuals. The questions addressed the demographic characteristics along the registration of participant’s knowledge, education, and attitude toward genetic testing. The individuals were divided into three groups based on their knowledge: 1) Scored above 80 to 100 were defined as “good” 2) 60 to 80 as “average” 3) less than 60 as “poor” knowledge. Result: Most participants (86%) believed consanguineous marriages increase the risk of genetic diseases; 82.3% knew that thalassemia is a type of genetic disease, only 33.3% could distinguish prenatal diagnosis (PND) from other laboratory tests. The relationship between the participants’ knowledge and their level of education was significant (r = 0.78, p < 0.001), age (r =–0.16, p < 0.01), and urbanity (p < 0.01). A prominent relationship was observed between the knowledge (r = 0.64, p < 0.001) or education (r = 0.62, p < 0.001) and people’s desire to use the genetic tests before the wedding ceremony. No significant correlations were found between the participant’s attitude and their ages/urbanity. Most of the individuals agreed to arrange a genetic counseling before marriage (0.94%). Conclusion: This study revealed that most individuals were interested in using genetic counseling services and genetic tests before marriage.

Invasive Prenatal Diagnosis

2020 ◽  
Author(s):  
Kimberly Zayhowski
Keyword(s):  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
Genetic Testing ◽  
Prenatal Care ◽  
Chorionic Villus ◽  
Prenatal Testing ◽  
Chorionic Villus Sampling ◽  
Genetic Tests ◽  
Genetic Technologies ◽  
Invasive Techniques

Despite recent advances in genetic technologies that are making invasive prenatal diagnosis less common, amniocentesis and chorionic villus sampling (CVS) remain an integral part of prenatal care. A multitude of tests, including a variety of genetic tests, can be performed using samples collected from either procedure. Although invasive testing has limitations, many genetic conditions can only be diagnosed through invasive techniques during pregnancy. Invasive testing continues to assist patients and providers in making informed decisions regarding the care of pregnancies. This review details amniocentesis and chorionic villus sampling with a focus on genetic testing, describing why the tests are performed, the way in which they are performed, and the associated limitations and complications of the procedures.  This review 5 figures, 3 tables, and 26 references. Keywords: prenatal diagnosis, amniocentesis, chorionic villus sampling, genetic testing, genetic counseling, invasive prenatal testing, pregnancy, aneuploidy

Low-Dose Fetal CT in the Prenatal Evaluation of Skeletal Dysplasias and Other Severe Skeletal Abnormalities

2013 ◽  
Vol 200 (5) ◽  
pp. 989-1000 ◽  
Author(s):  
Teresa Victoria ◽  
Monica Epelman ◽  
Beverly G. Coleman ◽  
Steve Horii ◽  
Edward R. Oliver ◽  
...  
Keyword(s):  
Low Dose ◽  
Skeletal Dysplasias ◽  
Skeletal Abnormalities

The syndrome of pericarditis, arthritis, and camptodactyly: an under-recognized cause of pericardial constriction in children?

1999 ◽  
Vol 9 (5) ◽  
pp. 526-528 ◽  
Author(s):  
Alfonso Buendía ◽  
Fause Attié ◽  
Manuel Martínez-Lavin
Keyword(s):  
Differential Diagnosis ◽  
Pericardial Effusion ◽  
Correct Diagnosis ◽  
Skeletal Abnormalities

AbstractThe syndrome encompassing the combination of pericarditis, arthritis, and camptodactyly is a rarely described cause of pericardial constriction in children. It is likely that this association is being under-recognized. We report a new case in which the skeletal abnormalities were subtle. The syndrome should be included in the differential diagnosis of any child with persistent non-inflammatory pericardial effusion. A careful search at the bedside for the associated skeletal abnormalities should lead to the correct diagnosis. Pericardiectomy is the treatment of choice.

scholarly journals Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Katarína Brennerová ◽  
Martina Škopková ◽  
Mária Ostrožlíková ◽  
Jana Šaligová ◽  
Juraj Staník ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Vitamin B12 ◽  
Methylmalonic Acid ◽  
Clinical Symptoms ◽  
Oral Treatment ◽  
Correct Diagnosis ◽  
Methylmalonic Aciduria ◽  
Intensive Treatment ◽  
Genetic Tests

Abstract Background Isolated methylmalonic aciduria can be caused by pathogenic mutations in the gene for methylmalonyl-CoA mutase or in the genes encoding enzymes involved in the intracellular metabolism of cobalamin. Some of these mutations may be cobalamin responsive. The type of methylmalonic aciduria cannot always be assumed from clinical manifestation and the responsiveness to cobalamin has to be assessed for appropriate cobalamin administration, or to avoid unnecessary treatment. The cases presented herein highlight the importance of genetic testing in methylmalonic aciduria cases and the need for standardisation of the in vivo cobalamin-responsiveness assessment. Case presentation We describe two patients who presented in the first week of life with rapid neurological deterioration caused by metabolic acidosis with severe hyperammonaemia requiring extracorporeal elimination in addition to protein restriction, energy support, carnitine, and vitamin B12 treatment. The severity of the clinical symptoms and high methylmalonic acid concentrations in the urine (>30,000 μmol/mmol of creatinine) without hyperhomocysteinaemia in both of our patients suggested isolated methylmalonic aciduria. Based on the neonatal manifestation and the high methylmalonic acid urine levels, we assumed the cobalamin non-responsive form. The in vivo test of responsiveness to cobalamin was performed in both patients. Patient 1 was evaluated as non-responsive; thus, intensive treatment with vitamin B12 was not used. Patient 2 was responsive to cobalamin, but the dose was decreased to 1 mg i.m. every two weeks with daily oral treatment due to non-compliance. Genetic tests revealed bi-allelic mutations in the genes MMAB and MMAA in Patient 1 and 2, respectively. Based on these results, we were able to start intensive treatment with hydroxocobalamin in both patients. After the treatment intensification, there was no acute crisis requiring hospitalisation in Patient 1, and the urine methylmalonic acid levels further decreased in Patient 2. Conclusions Despite carrying out the in vivo test of responsiveness to cobalamin in both patients, only the results of molecular genetic tests led us to the correct diagnosis and enabled intensive treatment with hydroxocobalamin. The combination of the standardized in vivo test of cobalamin responsiveness and genetic testing is needed for accurate diagnosis and appropriate treatment of isolated methylmalonic aciduria.

scholarly journals Special pre- and posttransplant considerations in inherited bone marrow failure and hematopoietic malignancy predisposition syndromes

Hematology ◽  
2020 ◽  
Vol 2020 (1) ◽  
pp. 107-114
Author(s):  
Carmem Bonfim
Keyword(s):  
Bone Marrow ◽  
Hematopoietic Cell Transplantation ◽  
Bone Marrow Failure ◽  
Correct Diagnosis ◽  
Young Patients ◽  
Dyskeratosis Congenita ◽  
Cancer Surveillance ◽  
Developmental Abnormalities ◽  
Hematopoietic Malignancy ◽  
Before And After

Abstract Advances in the diagnosis and treatment of inherited bone marrow failure syndromes (IBMFS) have provided insight into the complexity of these diseases. The diseases are heterogeneous and characterized by developmental abnormalities, progressive marrow failure, and predisposition to cancer. A correct diagnosis allows for appropriate treatment, genetic counseling, and cancer surveillance. The common IBMFSs are Fanconi anemia, dyskeratosis congenita, and Diamond-Blackfan anemia. Hematopoietic cell transplantation (HCT) offers curative treatment of the hematologic complications of IBMFS. Because of the systemic nature of these diseases, transplant strategies are modified to decrease immediate and late toxicities. HCT from HLA-matched related or unrelated donors offers excellent survival for young patients in aplasia. Challenges include the treatment of adults with marrow aplasia, presentation with myeloid malignancy regardless of age, and early detection or treatment of cancer. In this article, I will describe our approach and evaluation of patients transplanted with IBMFS and review most frequent complications before and after transplant.

Surgical Correction of Congenital Bilateral Patellar Luxation in a Pup - A Case Report

2018 ◽  
Vol 13 (03) ◽  
Author(s):  
K. Mohd. Arif Basha ◽  
K.M. Srinivasa Murthy ◽  
L. Ranganath
Keyword(s):  
Lateral Displacement ◽  
Longitudinal Axis ◽  
Lateral Force ◽  
Genu Valgum ◽  
Coxa Vara ◽  
Trochlear Groove ◽  
Developmental Abnormalities ◽  
Skeletal Abnormalities ◽  
Stifle Joint ◽  
Traumatic Origin

Luxation of patella may be congenital or traumatic origin, and can affect any breed. The congenital form is related to developmental abnormalities of the limb that create malalignment of quadriceps group of muscles. With underlying abnormalities of hip and stifle joint congenital lateral patellar luxation have skeletal abnormalities like retroversion of femoral head and neck, coxa vara (altered angle of inclination), genu valgum and shallow trochlear groove with poorly developed trochlear ridges (Denny and Butterworth, 2006). Luxation of patella is a common cause of lameness in dog which can be in medial or lateral displacement. The incidence of medial patellar luxation is 5 times more than lateral luxation and is seen more in large breeds of dogs. Lateral patellar luxation may predispose the dogs to knock knee (genu valgum) and cow hock (hock valgus) condition (Robins, 1990). The cause of lateral patellar luxation is unknown but is thought to be related to anteversion or coxa valga of the coxofemoral joint, which shifts the line of force produced by the pull of quadriceps lateral to the longitudinal axis of the trochlear groove. This abnormally directed lateral force pulls the patella from the trochlear sulcus causing skeletal abnormalities (Fossum, 2002).

Practical Aspects of Genetic Counseling: Genetic Tests to Identify Risks

2019 ◽  
pp. 191-197
Author(s):  
Bernardo Garicochea ◽  
Rodrigo Santa Cruz Guindalini
Keyword(s):  
Genetic Counseling ◽  
Genetic Tests

scholarly journals Evaluating Web-Based Direct-to-Consumer Genetic Tests for Cancer Susceptibility

2020 ◽  
pp. 161-169
Author(s):  
Madison K. Kilbride ◽  
Angela R. Bradbury
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Web Sites ◽  
Clinical Laboratory ◽  
Cancer Susceptibility ◽  
Molecular Technique ◽  
Genetic Tests ◽  
Comprehensive Overview ◽  
Direct To Consumer ◽  
Informed Decisions

PURPOSE Recent years have seen direct-to-consumer (DTC) genetic testing for cancer susceptibility change dramatically. For one, a new model now dominates the market where tests are advertised to consumers but ordered by physicians. For another, many of today’s tests are distinguished from earlier DTC offerings for cancer susceptibility by their scope and potential clinical significance. This review provides a comprehensive overview of available DTC genetic tests for cancer susceptibility and identifies aspects of the DTC testing process that could affect consumers’ ability to make informed decisions about testing and understand their results. METHODS First, we provide an overview of each DTC genetic test for cancer susceptibility that includes information about cost; who orders it; whether variants of uncertain significance are returned; availability of genetic counseling; intended users; management of variant reclassifications; whether it is characterized as diagnostic, actionable, and clinically valid; molecular technique used; and Clinical Laboratory Improvement Amendments/College of American Pathologists status. Second, we identify six aspects of the testing process that could affect consumers’ ability to make informed decisions about testing and interpret their results: How companies use certain terms (eg, medical grade or clinical grade); how companies use consumers’ health information during the ordering process; the extent of genetic counseling provided by companies; companies’ procedures for returning results; the role of company-provided ordering physicians; and companies’ procedures for communicating variant reclassifications. RESULTS On the basis of our review of companies’ Web sites, we believe that consumers would benefit from more information about these aspects of testing. CONCLUSION Providing this information would help consumers make informed decisions about whether to use a particular DTC genetic testing service and, should they choose to pursue testing, understand the implications and limitations of their results.

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