Search Results (8)

Hereditary spastic paraplegias are rare genetic disorders characterized by corticospinal tract impairment. Spastic paraplegia 83 (SPG83) is associated with biallelic mutations in the HPDL gene, leading to varied severities from neonatal to juvenile onset. The function of HPDL is unclear, though it is speculated to play a role in alternative coenzyme Q10 biosynthesis. Here, we report the generation of hiPS lines from primary skin fibroblasts derived from three SPG83 patients with different HPDL mutations, using episomal reprogramming. The patients’ clinical characteristics are carefully listed. The hiPS lines were meticulously characterized, demonstrating typical pluripotent characteristics through immunofluorescence assays for stemness markers (OCT4, TRA1-60, NANOG, and SSEA4) and RT-PCR for endogenous gene expression. Genetic integrity and identity were confirmed via Sanger sequencing and short tandem repeat analysis. These hiPS cells displayed typical pluripotent characteristics and were able to differentiate into neocortical neurons via a dual SMAD inhibition protocol. In addition, HPDL mutant neurons assessed via long-term culturing were able to achieve effective maturation, similarly to their wild-type counterparts. The HPDL hiPS lines we generated will provide a valuable model for studying SPG83, offering insights into its molecular mechanisms and potential for developing targeted therapies. Full article

Background: Developmental hip dysplasia is a common condition with preventable causes, and its etiology is still not fully elucidated. In our study, we aimed to examine the use of synthetic oxytocin during childbirth as a potential risk factor for developmental hip dysplasia. Methods: This study involved comprehensive hip examinations on postnatal days 0, 14, 30, and 60, as well as hip ultrasonography results at 6-8 weeks. We specifically focused on healthy girls born with vaginal deliveries, comparing those who were applied with a low-dose oxytocin induction protocol (Group 2) and those who had vaginal deliveries without induction (Group 1). Results: When the examination findings were compared with the hip ultrasonography findings (Type 2a was detected in the left hip of one patient (6.3%) in Group 1 and in the right hip of two patients (11.8%) in Group 2), it was seen that oxytocin induction did not cause a risk for developmental hip dysplasia. The oxytocin induction rate was higher in newborns weighing more than 3400 g (p = 0.04). Conclusions: A low-dose oxytocin protocol applied at birth has not been shown to harm the hip joint in the neonatal period and on ultrasonographic α and β angle measurements applied at 6-8 weeks. However, our study also highlights the need for new studies investigating oxytocin peripheral receptors and their effects, underscoring the importance of our findings in guiding future research in this area. Full article

Oxidative stress may affect new born calves due to high stress suffered around birth. We hypothesized that maternal supplementation with micronutrients and vitamins in late gestation enhance the neonatal calf’s antioxidant system, decreasing the occurrence and duration of diarrhea, and improving growth from birth through weaning. To test this hypothesis, 80 multiparous cows were cluster-assigned to treatment groups. Treated group (TG) cows received mineral and vitamin supplementation while control group (CG) cows received saline solution. Feed intake and fecal score were measured daily until the ninth week. Weight and body measurements were registered weekly, and blood samples were collected from postpartum cows and calves after birth and at 7, 14, and 63 days of life. Although CG calves had greater fecal scores (p = 0.01), diarrhea characteristics did not differ. Calves in the TG showed greater starter intake (p = 0.04). Feed efficiency showed a trend with treatment-age interaction (p = 0.06). Calves in the CG had wider hips in the first week (p = 0.03), but not by the ninth week. Total antioxidant status, thiobarbituric acid reactive substances, and haptoglobin did not differ between treatment groups. Serum metabolites showed no differences. Supplementation did not impact calf antioxidant system or growth in the first two months. Full article

Developmental hip dysplasia or developmental dysplasia of the hip (DDH) includes a wide range of deformities of the hip, such as congenital dysplasia, subluxation, and dislocation. It is usually identified through neonatal screening during the first 6–8 weeks of life. The incidence of DDH ranges from 1–7% in neonates among some populations, but this may vary among different ethnicities and countries. A consensus about the ideal age for screening has not been reached to date. The aim of this study is to summarize the existing data regarding the incidence of congenital hip dysplasia and screening tests among European countries. The authors conducted a systematic search in PubMed/Medline and Scopus and collected original studies published in English, French or German. The incidence of DDH presents fluctuations, not only among European countries, but also within the same country. There is no unanimity regarding the screening methods of DDH; in some countries, universal ultrasound is proposed as the basic screening method for neonates for DDH; in other countries screening is performed only in high-risk cases. More robust data are needed to conclude which screening approach is associated with improved long-term outcomes. Full article

(1) Background: The prevention of critical situations is a key ability in medicine. Hip ultrasound for neonates is a standard procedure to prevent later critical outcomes, such as hip dysplasia. Additionally, the SARS-CoV-2 pandemic has put worldwide stress upon healthcare units, resulting often in a lack of sufficient medical personnel. This work aims to develop solutions to ease and speed up the process of coming to a correct diagnosis. (2) Methods: Traditional medical procedures are envisaged, but they are enhanced to reduce diagnosing errors due to the movements of the neonates. Echographic noise filtering and contrast correction methods are implemented the Hyperanalytic Wavelet Transform, combined with an adaptive Soft Thresholding Filter. The algorithm is tailored to infants’ structure and is tested on real ultrasounds provided by the “Victor Babes” University of Medicine and Pharmacy. Denoising and contrast correction problems are targeted. (3) Results: In available clinical cases, the noise affecting the image was reduced and the contrast was enhanced. (4) Discussion: We noticed that a significant amount of noise can be added to the image, as the patients are neonates and can hardly avoid movements. (5) Conclusions: The algorithm is personalized with no fixed reference value. Any device easing the clinical procedures of physicians has a practical medical application. Full article

Hip flexion and abduction is fundamental for developmental dysplasia of the hip (DDH) treatment. At present, double diaper treatment has been inappropriately adopted when DDH is suspected. The aim of this study was to verify whether double diapers influence a newborn’s hip position. Here, we studied 50 children (23 female; 27 male; average age 62.33 ± 20.50 days; average birth weight 3230 ± 447 g) with type I hips according to Graf. At the same time of the ultrasound (US) examination, the following hip positions were measured using a manual protractor: (1) spontaneous position, supine on the outpatient bed without a diaper; (2) spontaneous position, with a double diaper; and (3) squatting position on the caretakers’ side. Statistical analysis was performed with a t-test to compare between (1) the spontaneous position without a diaper and with double diapers; (2) the spontaneous position with double diapers as well as the squatting position on the caretakers’ side with a diaper. The comparison between the hip position without diaper and with double diapers was statistically not significant for all measurements, i.e., right hip flexion (p < 0.33), left hip flexion (p < 0.34), and right and left hip abduction (p < 0.87). The comparison between the hip position with double diapers and on the caretakers’ side was statistically significant for all measurements, i.e., right hip flexion (p < 0.001), left hip flexion (p < 0.001) and right and left hip abduction (p < 0.001). We found that the use of double diapers did not affect hip position, while the position formed on the caretaker’s side shows favorable influence. Full article

Developmental dysplasia of the hip (DDH) may require early abduction treatment with infants sleeping on their back for the first few months of life. As sleeping on back is known to cause deformational plagiocephaly, we assessed school age children treated for dislocation or subluxation of the hip-joint in infancy. Plagiocephaly was analyzed by using cephalic index (CI) and oblique cranial length ratio (OCLR) as anthropometric measurements from 2D digital vertex view photographs. Six of the 58 (10.3%) DDH children and only one of the 62 (1.6%) control children had plagiocephaly (p = 0.041). Furthermore, cross bite was found in 14 (24.1%) of the DDH children and in 7 (10.3%) of the control children. Developmental dysplasia of the hip in infancy was associated with cranial asymmetries and malocclusions at school age. Preventive measures should be implemented. Full article

Septic arthritis (SA) is a serious joint infection associated with significant morbidity that can cause permanent damage with articular cartilage destruction, osteonecrosis and lifelong deformities if not diagnosed and treated promptly. In neonates, because of the paucity of signs and symptoms, SA is difficult to diagnose. The treatment for SA in children is empirical antibiotic for weeks, initially intravenously, and surgical (arthrotomy) in particular for the hip and shoulder because of the high risk of sequelae in these joints. Actually, there isn’t a consensus about the duration of antibiotic treatment, because of the lack of powered studies, and a variable period from 2 weeks to 4 months has been suggested in the literature. Data in the neonatal population are very limited. We describe a case of neonatal hip arthritis with a good outcome treated with a short antibiotic course of 2 weeks. Full article