Caroli syndrome associated with atrial septal defect and polydactyly: a case report

Ghassa, Ali; Khouri, Lina

doi:10.1186/s13256-023-03919-9

Cited by 3 publications

(1 citation statement)

References 17 publications

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“…A wide variety of clinical syndromes, termed "ciliopathies", occur in patients with gene defects for proteins that localize to the cilium and its basal body 3,4 . While changes in sensory neurons have been reported in patients with Bardet-Biedl syndrome ciliopathy 5 , and pain has been reported by these patients 5 , as well as by patients with Caroli disease ciliopathy 6,7 , and in the majority of patients with the most common ciliopathy, autosomal dominant polycystic kidney disease 8,9 , it is not known if primary cilia are present in nociceptors and their potential function related to pain.…”

Section: Introductionmentioning

confidence: 99%

The Primary Cilium and its Hedgehog Signaling in Nociceptors Contribute to Inflammatory and Neuropathic Pain

Fitzsimons,

Staurengo-Ferrari,

Bogen

et al. 2023

Preprint

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The primary cilium, a 1-3 μm long hair-like structure protruding from the surface of almost all cells in the vertebrate body, is critical for neuronal development and also functions in the adult. As the migratory neural crest settles into dorsal root ganglia (DRG) sensory neurons elaborate a single primary cilium at their soma that is maintained into adult stages. While it is not known if primary cilia are expressed in nociceptors, or their potential function in the mature DRG neuron, recent studies have shown a role for Hedgehog, whose signaling demonstrates a dependence on primary cilia, in nociceptor sensitization. Here we report the expression of primary cilia in rat and mouse nociceptors, where they modulate mechanical nociceptive threshold, and contribute to inflammatory and neuropathic pain. When siRNA targetingIft88, a primary cilium-specific intra-flagellar transport (IFT) protein required for ciliary integrity, was administered by intrathecal injection, in the rat, it resulted in loss ofIft88mRNA in DRG, and primary cilia in neuronal cell bodies, which was associated with an increase in mechanical nociceptive threshold, and abrogation of hyperalgesia induced by the pronociceptive inflammatory mediator, prostaglandin E2, and painful peripheral neuropathy induced by a neurotoxic chemotherapy drug, paclitaxel. To provide further support for the role of the primary cilium in nociceptor function we also administered siRNA for another IFT protein,Ift52.Ift52 siRNA results in loss ofIft52 in DRG and abrogates paclitaxel-induced painful peripheral neuropathy. Attenuation of Hedgehog-induced hyperalgesia byIft88knockdown supports a role for the primary cilium in the hyperalgesia induced by Hedgehog, and attenuation of paclitaxel chemotherapy-induced neuropathy (CIPN) by cyclopamine, which attenuates Hedgehog signaling, suggests a role of Hedgehog in CIPN. Our findings support a role of nociceptor primary cilia in the control of mechanical nociceptive threshold and in inflammatory and neuropathic pain, the latter, at least in part, Hedgehog dependent.

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Section: Introductionmentioning

confidence: 99%

The Primary Cilium and its Hedgehog Signaling in Nociceptors Contribute to Inflammatory and Neuropathic Pain

Fitzsimons,

Staurengo-Ferrari,

Bogen

et al. 2023

Preprint

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High-Salt Diet Inhibits the Expression of Bmal1 and Promotes Atrial Fibrosis and Vulnerability to Atrial Fibrillation in Dahl Salt-Sensitive Rats

Wang,

Zhang,

et al. 2024

American Journal of Hypertension

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BACKGROUND Hypertension is a risk factor for atrial fibrillation (AF), and brain and muscle arnt-like protein 1 (Bmal1) regulate circadian blood pressure and is implicated in several fibrotic disorders. Our hypothesis that Bmal1 inhibits atrial fibrosis and susceptibility to AF in salt-sensitive hypertension (SSHT) and our study provide a new target for the pathogenesis of AF induced by hypertension. METHODS The study involved 7-week-old male Dahl salt-sensitive that were fed either a high-salt diet (8% NaCl; DSH group) or a normal diet (0.3% NaCl; DSN group). An experimental model was used to measure systolic blood pressure (SBP), left atrial ejection fraction (LAEF), left atrial end-volume index (LAEVI), left atrial index (LAFI), AF inducibility, AF duration, and atrial fibrosis pathological examination and the expression of Baml1 and fibrosis-related proteins (TNF-α and α-SMA) in left atrial tissue. RESULTS DSH increased TNF-α and α-SMA expression in atrial tissue, level of SBP and LAESVI, atrial fibrosis, AF induction rate and AF duration, and decreased Bmal1 expression in atrial tissue, circadian rhythm of hypertension and level of LAEF and LAFI. Our results also showed that the degree of atrial fibrosis was negatively correlated with Bmal1 expression, but positively correlated with the expression of TNF-α and α-SMA. CONCLUSIONS We demonstrated that a high-salt diet leads to circadian changes in hypertension due to reduction Bmal1 expression, which plays a crucial role in atrial fibrosis and increased susceptibility to AF in SSHT rats.

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Central Tetrapolydactyly With Atrial Septal Defect and Facial Nerve Palsy in a 15-Month-Old Female Child

Thorat,

Tambolkar,

Mane

2024

Cureus

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Polydactyly, which is the presence of an extra appendage on the hand or the foot, is a common congenital anomaly encountered in children. It may be an isolated finding or found in conjunction with other congenital anomalies and syndromes. Polydactyly can occur in the hands or the feet. In the hand, it may occur as radial polydactyly (pre-axial polydactyly) or ulnar polydactyly (post-axial polydactyly (PAP)). Depending upon the side of occurrence, it may be medial, that is, toward the little finger (called ulnar polydactyly) or lateral, that is, toward the thumb (called radial polydactyly). On the feet, the extra digit can either be present on the side of the great toe (called tibial polydactyly) or on the side of the little toe (called fibular polydactyly). In both the upper and the lower limbs, affection of the central three digits is called central polydactyly. Central tetrapolydactyly, which is the presence of an extra appendage on all four limbs, is much more rarely encountered. This case report describes a 15-month-old female child who presented with findings of six digits on all four limbs and deviation of the left angle of mouth since birth. Her echocardiography showed a large atrial septal defect measuring 7 mm, with a left-to-right shunt. This is the first such case reported from all over the world from a tertiary care hospital with the aforementioned findings. Polydactyly, a very common congenital anomaly, should not be ignored in pediatric settings. It is important to diagnose associated features such as congenital heart diseases (CHDs), genitourinary abnormalities, and orofacial abnormalities to facilitate timely surgical correction and help improve the quality of life of those affected.

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Caroli syndrome associated with atrial septal defect and polydactyly: a case report

Cited by 3 publications

References 17 publications

The Primary Cilium and its Hedgehog Signaling in Nociceptors Contribute to Inflammatory and Neuropathic Pain

The Primary Cilium and its Hedgehog Signaling in Nociceptors Contribute to Inflammatory and Neuropathic Pain

High-Salt Diet Inhibits the Expression of Bmal1 and Promotes Atrial Fibrosis and Vulnerability to Atrial Fibrillation in Dahl Salt-Sensitive Rats

Central Tetrapolydactyly With Atrial Septal Defect and Facial Nerve Palsy in a 15-Month-Old Female Child

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