Greenberg Skeletal Dysplasia: first reported case in the Democratic Republic of Congo

Lubala, Toni Kasole; Lubala, Nina; Munkana, Arthur Ndundula; Nyenga, Adonis Muganza; Mutombo, Augustin Mulangu

doi:10.11604/pamj.2013.14.55.2170

Cited by 2 publications

(1 citation statement)

References 6 publications

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“…Insufficient breastmilk was also one of the reasons given by mothers to not respecting exclusive breastfeeding which was raised by different previous study in other countries like Tunisia and Kenya [47][48][49][50]. This insufficient milk could be explained by the mothers' undiversified diet or the state of health after delivery and the stress.…”

Section: Discussionmentioning

confidence: 98%

Factors influencing exclusive breastfeeding practices in rural areas in south Benin

Kossou

Hounkpatin²,

Lokonon³

et al. 2021

E3S Web Conf.

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This study is part of the national programme for the promotion of exclusive breastfeeding (EBF) and was technically supported by the International Atomic Energy Agency. It aimed to determine the factors leading to the cessation of EBF among mothers living in areas benefiting from an important breastfeeding promotion actions in southern Benin. The practice of EBF was measured using “deuterium oxide dose to the mother” technique in 105 mothers during 6 month’s post-partum. Factors influencing the duration of this practice were investigated through an individual interview with the mothers and their relatives. The prevalence of EBF practice in lactating mothers was 58.7%, 29.1%, and 2.4% at 1, 3, and 6 months postpartum respectively. The main factor favoring this practice at 1 and 3 months was sufficient breastmilk supply. Continuation up to 6 months was due to the support of the family and belief in its benefits. On the other hand, the principal factors that led to its interruption at 1 and 3 months were insufficient breastmilk production and the giving of herbal teas and water to the babies. After 6 months, the drastic drop of EBF was due to the lack of the support from fathers. Integrating these factors into EBF promotion actions might increase practice.

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Section: Discussionmentioning

confidence: 98%

Factors influencing exclusive breastfeeding practices in rural areas in south Benin

Kossou

Hounkpatin²,

Lokonon³

et al. 2021

E3S Web Conf.

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Human Cholesterol Biosynthesis Defects

Anderson¹,

Coman²

2020

Apolipoproteins, Triglycerides and Cholesterol

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Cholesterol plays an essential role in normal embryogenesis and perturbations in its de novo synthesis are responsible for organ malformations in the cholesterol biosynthesis defects. Ten distinct inherited disorders have been linked to different enzyme defects in the isoprenoid/cholesterol biosynthetic pathway: mevalonic aciduria, hyperimmunoglobulinemia syndrome, squalene synthase deficiency, lanosterol synthase deficiency, hydrops-ectopic calcification-moth-eaten (Greenberg) skeletal dysplasia, X-linked dominant chondrodysplasia punctata, congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome, lathosterolosis, Smith-Lemli-Opitz syndrome and desmosterolosis. These Mendelian disorders are clinically heterogeneous with protean manifestations reflecting the important role of cholesterol, and its intermediary metabolites, in embryogenesis and development. Key clinical features commonly represented by the cholesterol biosynthesis defects include structural brain malformations, axial skeletal developmental anomalies and genital and cardiac malformations. The aetiology of the underlying pathophysiology is unclear and multifactorial but may be due to lowered cholesterol and/or the elevated, teratogenic levels of the intermediate sterol precursors. Herein, we will review clinical, biochemical and molecular aspects of the known human cholesterol biosynthesis defects.

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Greenberg Skeletal Dysplasia: first reported case in the Democratic Republic of Congo

Abstract: We describe the first Congolese case of Greenberg Skeletal Dysplasia. Were noted at birth a congenital hydrops, a chondrodystrophy, a severe hypoplastic face as well as an ulnar (postaxial) hexadactyly on all four limbs.

Cited by 2 publications

References 6 publications

Factors influencing exclusive breastfeeding practices in rural areas in south Benin

Factors influencing exclusive breastfeeding practices in rural areas in south Benin

Human Cholesterol Biosynthesis Defects

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