Holt-Oram syndrome is an autosomal dominant disorder, characterised by skeletal abnormalities of the upper limb associated with congenital heart defect, mainly atrial and ventricular septal defects. Skeletal defects exclusively affect the upper limbs in the preaxial radial ray distribution and are bilateral and asymmetrical. They range from clinodactyly, absent or digitalised thumb, hypoplastic...

Cleft lip or palate and lower lip pits are typical features of the autosomal dominantly inherited Van der Woude syndrome. Limb defects have not been reported in this syndrome so far. A girl with a unilateral complete cleft lip and palate, bilateral lower lip pits, and amniotic deformities of all four limbs is reported and the possibility of chance occurrence of cleft lip and palate, lower lip p...

Epilepsy is a common disorder and exposure to antiepileptic drugs during pregnancy increases the risk of teratogenicity. Older AEDs such as valproate and phenobarbital are associated with a higher risk of major malformations in the fetus than newer AEDs like lamotrigine and levetiracetam. Exposure to valproic acid during first trimester can result in fetal valproate syndrome (FVS), comprising t...

Background. The Global Vascular Guidelines (2019) proposed the term “critical limb-threatening ischemia”, which leads to death or amputation within 12 months. Only half of patients undergo limb revascularization; rest receive conservative treatment, effectiveness is extremely low. In this regard, it necessary develop alternative methods surgical treatment based on use cellular technologies. Aim...

conclusions both l-prp and l-prf could be used to effectively promote the healing of articular cartilage defects of the knee. results mean macroscopic scores of the treated defects were higher than the controls at all sampling times with significant differences (p < 0.05) observed between l-prf treated and control defects (10.13 vs. 8.37) and l-prp treated and control defects (10 vs. 8.5) at 4 ...

VACTERL association occurs in 1 10000- 40000 live births and is associated with vertebral defects, anal atresia, cardiac malformations, tracheoesophageal fistula, renal dysplasia limb defects. A 19-week-old male foetus antenatal diagnosis of foetal hydronephrosis on ultrasound the left kidney was medically terminated brought for autopsy. No other malformation reported scan. On autopsy, facial a...

Hepatocyte growth factor (HGF) and its receptor, the Met tyrosine kinase, are determinants of placenta, liver, and muscle development. Here, we show that Met function in vivo requires signaling via two carboxy-terminal tyrosines. Mutation of both residues in the mouse genome caused embryonal death, with placenta, liver, and limb muscle defects, mimicking the phenotype of met null mutants. In co...

CONTEXT Birth defects prevention, research, education, and support activities can be improved through surveillance systems that collect high-quality data. OBJECTIVE To estimate the overall and defect-specific accuracy of Florida Birth Defects Registry (FBDR) data, describe reasons for false-positive diagnoses, and evaluate the impact of statewide case confirmation on frequencies and prevalenc...

The purpose of this study was to compare the integrated EMG activity of spastic muscles in brain-damaged patients before and during splint application. Eight patients with spasticity that produced limb posturing were systematically monitored for EMG activity during a two-hour interval without a splint (Nonsplinted Condition), and during a subsequent two-hour period while wearing the splint (Spl...