Carpenter syndrome in a patient from Tanzania

Lodhia, Jay; Rego-Garcia, Iago; Koipapi, Sengua; Sadiq, Adnan; Msuya, David; Spaendonk, Resie van; Hamel, B.C.J.; Dekker, Marieke

doi:10.1002/ajmg.a.62015

Cited by 4 publications

(3 citation statements)

References 5 publications

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“…The encoded GTPase is a negative regulator for hedgehog (HH) family signaling; however, it is not yet clear how these pathways can be linked with obesity. It is known that HH signaling inhibits adipose tissue hypertrophy and hyperplasia [185].…”

Section: Genetic Syndromesmentioning

confidence: 99%

Causative Mechanisms of Childhood and Adolescent Obesity Leading to Adult Cardiometabolic Disease: A Literature Review

et al. 2021

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The past few decades have shown a worrisome increase in the prevalence of obesity and its related illnesses. This increasing burden has a noteworthy impact on overall worldwide mortality and morbidity, with significant economic implications as well. The same trend is apparent regarding pediatric obesity. This is a particularly concerning aspect when considering the well-established link between cardiovascular disease and obesity, and the fact that childhood obesity frequently leads to adult obesity. Moreover, most obese adults have a history of excess weight starting in childhood. In addition, given the cumulative character of both time and severity of exposure to obesity as a risk factor for associated diseases, the repercussions of obesity prevalence and related morbidity could be exponential in time. The purpose of this review is to outline key aspects regarding the current knowledge on childhood and adolescent obesity as a cardiometabolic risk factor, as well as the most common etiological pathways involved in the development of weight excess and associated cardiovascular and metabolic diseases.

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Section: Genetic Syndromesmentioning

confidence: 99%

Causative Mechanisms of Childhood and Adolescent Obesity Leading to Adult Cardiometabolic Disease: A Literature Review

et al. 2021

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“…Outside of selected published case reports and anecdotal experiences, Tanzanian neurogenetics is largely missing from the global neurogenetic landscape. Published cases include Becker muscular dystrophy ( Dekker et al, 2019 ), Huntington’s disease ( Scrimgeour, 1981 ), Motor neuron disease ( Dekker et al, 2018 ), Parkinson’s disease ( Dekker et al, 2020 ), Carpenter syndrome ( Lodhia et al, 2021 ), Adrenoleukodystrophy ( Dekker et al, 2019 ), Paroxysmal kinesigenic dyskinesia ( Dekker et al, 2020 ), Freeman-Sheldon syndrome ( Ali et al, 2017 ), Cornelia de Lange Syndrome ( Mende et al, 2012 ), Ataxia-Telangiectasia ( van Os et al, 2020 ), and Nodding syndrome ( Amaral et al, 2023 ). It is important to note that all of the above ascertained in Tanzania with molecular confirmation done overseas.…”

Section: Introductionmentioning

confidence: 99%

Advancing genetic testing for neurological disorders in Tanzania: importance, challenges, and strategies for implementation

Alimohamed,

Siima,

Manji

2024

Front. Neurosci.

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This manuscript discusses the critical need for advancing genetic testing capabilities for neurological disorders (NDs) in Tanzania, emphasizing the importance, challenges, and strategies for implementation. Neurological disorders, often caused by a complex interplay of genetic and environmental factors, disproportionately affect low and middle-income countries like Tanzania. Patients with neurogenetic diagnoses in Tanzania face substantial obstacles, including lack of trust in medical professionals, stigmatization, and limited access to proper care. The manuscript underscores the infancy of genetic testing implementation for NDs in Tanzania, citing challenges such as high costs, limited availability, and the absence of routine testing in diagnostic procedures. The paper recommends establishing well-characterized cohorts, conducting a nationwide emergency census survey, and enhancing diagnostic services and healthcare financing. The paper stresses on the importance of collaboration, research, public awareness, and advocacy to address the challenges posed by NDs in Tanzania. The manuscript proposes a comprehensive plan, including training and capacity building in molecular diagnosis and bioinformatics, to establish genetic testing capabilities and reduce the burden of NDs in the country. Overall, the manuscript calls for a collaborative effort involving government support, stakeholder engagement, and international partnerships to advance genetic testing and improve healthcare outcomes for individuals with neurological disorders in Tanzania.

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“…Синдром Карпентера-2, при якому ознаки синдрому Карпентера поєднуються з транспозицією внутрішніх органів (situs inversus) викликається мутацією в гені MEGF8. Тип успадкування -автосомнорецесивний [12].…”

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Ontology of Variants of the Structure and Malformations of the Skull. Part II. Hereditary Syndromes

Хмара¹,

Ryznychuk²,

Kuzniak³

et al. 2021

Ukr. ž. med. bìol. sportu

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Congenital abnormalities occur in 2-3% of all children and about 1% have hereditary syndromes or multiple malformations. About 30% of all cases have a cleft lip or palate. Genetic factors such as chromosomal abnormalities and gene mutations cause about 15% of congenital abnormalities; exogenous environmental factors cause about 10% of defects; a combination of genetic and environmental factors (multifactorial inheritance) cause 20-25%; multiple pregnancy causes 0.5-1% of congenital abnormalities. Craniofacial anomalies represent an important pediatric problem. They are among the leading causes of infant mortality and morbidity. Craniofacial anomalies mainly affect the development of the skull and facial bones. These defects range from mild to severe, which can be life-threatening and require immediate surgical intervention. Examination of patients with congenital cranial pathology is of particular importance, since a correct diagnosis can often be established only by taking into consideration all stigmas and malformations. The onset of pathology occurs during ontogenesis: normal embryonic development is disturbed under the influence of exogenous and endogenous factors, to which the body is particularly sensitive during critical periods. The consequences of various endogenous and exogenous factors are disruption of growth and development of the organism and occurrence of congenital malformations as an independent unit or occurrence of hereditary syndromes as a set of certain symptoms. Craniofacial syndromes can be divided into several groups. They are most often accompanied by premature fusion of cranial sutures (craniosynostosis) and syndromes with cleft formation. The most frequent syndromes in this group are: Crouzon syndrome, suture synostosis, microsomia, cerebral anomalies and midface clefts. These developmental disorders can lead to a variety of health consequences, namely affecting these patients’ respiratory health, appearance, brain development, hearing, vision, bite, speech, and mental development. Congenital malformations of the skull bones can be related to genetic mutations and environmental factors. Conclusion. Based on the analysis of the literature, a brief clinical characterization of the most common hereditary syndromes accompanied by cerebral and facial skull deformities is given, the type of inheritance and the gene mutation that causes these disorders are indicated

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Carpenter syndrome in a patient from Tanzania

Cited by 4 publications

References 5 publications

Causative Mechanisms of Childhood and Adolescent Obesity Leading to Adult Cardiometabolic Disease: A Literature Review

Causative Mechanisms of Childhood and Adolescent Obesity Leading to Adult Cardiometabolic Disease: A Literature Review

Advancing genetic testing for neurological disorders in Tanzania: importance, challenges, and strategies for implementation

Ontology of Variants of the Structure and Malformations of the Skull. Part II. Hereditary Syndromes

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