What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study.

Congenital clubfoot is a common pediatric malformation that affects approximately 0.1% of all births. 80% of the cases appear isolated, while 20% can be secondary or associated with complex syndromes. To date, two genes that appear to play an important role are PTIX1 and TBX4, but their actual impact is still unclear. Our study aimed to evaluate the prevalence of pathogenic variants in PITX1 and TBX4 in Italian patients with idiopathic clubfoot. PITX1 and TBX4 genes were analyzed by sequence and SNP array in 162 patients. We detected only four nucleotide variants in TBX4, predicted to be benign or likely benign. CNV analysis did not reveal duplications or deletions involving both genes and intragenic structural variants. Our data proved that the idiopathic form of congenital clubfoot was rarely associated with mutations and CNVs on PITX1 and TBX4. Although in some patients, the disease was caused by mutations in both genes; they were responsible for only a tiny minority of cases, at least in the Italian population. It was not excluded that other genes belonging to the same TBX4-PITX1 axis were involved, even if genetic complexity at the origin of clubfoot required the involvement of other factors.

The impact of the baby's congenital malformation on the mother's psychological well-being: an empirical contribution on the clubfoot.

BACKGROUND: Empirical findings show that the child's illness can interfere with parental well-being and with the construction of a well-functioning effective relationship between the child and his/her caregivers. In line with these findings, the present study aims at investigating the negative impact of the baby's diagnosis of clubfoot on the mother and the protective function of social support; moreover, the study aims at implementing, as a pilot experience, an intervention protocol directed to the same sample of mothers, providing emotional and informational support. METHODS: A sample of 34 mothers was recruited within the first 3 months of the baby's life, including 2 groups: a clinical one, with 17 mothers of babies diagnosed with clubfoot, and a control one, with 17 mothers of healthy full-term babies. The participants completed the following instruments in 1 session: the Beck Depression Inventory-II, the Rapid Stress Assessment questionnaire, the Brief COPE, and the Multidimensional Scale of Perceived Social Support. RESULTS: The results show that the mothers in the clinical group, compared with those in the control group, reported more stress and depressive symptoms in reaction to the birth of their baby. Moreover, they displayed a pattern of coping strategies different from those of control mothers and coherent with the meaning of having a baby with a malformation. Lastly, the group condition (clinical vs. control) significantly moderated the association of social support with stress and depression. CONCLUSIONS: These preliminary findings highlight the negative impact that the congenital malformation of clubfoot can have on mothers' psychological well-being and the protective role of social support. Moreover, the positive feedback from the mothers receiving emotional and informational support confirms the importance of implementing intervention protocols in the hospital unit directed to parents of babies with a congenital malformation.

[Idiopathic intervertebral disc calcification in children: the role of diagnostic imaging. A case report]. / Calcificazione idiopatica del disco intersomatico nel bambino: ruolo della diagnostica per immagini. Descrizione di un caso.

The idiopathic calcification of the intervertebral disc in childhood is a rare syndrome with unknown aetiology. This pathology is more frequent in males, with predominant localization to cervical spine. The natural evolution of the syndrome is the progressive and spontaneous resorption of the calcific deposit, with symptom regression. We report a case of an acute and worsening torticollis in a 10-year-old child, with reference to a recent minor cervical distortion, resistant to analgesic treatment. X-ray evaluation, executed after a week from the appearance of torticollis, showed an oval calcification in the nucleus pulposus of the C6-C7 intervertebral disc. The CT and especially the MRI concurred to recognize a disc hernia and an adjacent osteo-ligamentous pathologic participation. In particular, MRI showed the adjacent vertebral spongy bone edema and the active enthesiopathy of the posterior longitudinal ligament.