Congenital Anomalies最新文献

The usefulness and effectiveness of telepractice have been reported in recent years. Treatment of cleft palate patients with compensatory articulation is based on perceptual identification. Telepractice using videoconferencing platforms causes voice signal distortion and impacts auditory-perceptual perception. This study aimed acoustically examine voice signal distortion and determine the optimal videoconferencing platforms, in addition to the phonemes that can be discriminated with the same quality as in face-to-face interactions. ATR503 with 50 phoneme-balanced Japanese speech sentences was used as a reference corpus. Four videoconferencing platforms, —Zoom, Cisco Webex, Skype, and Google Meet, —and five devices, —iPhone, Android, iPad Air, Windows, and MacBook Pro were used as transmission conditions to examine voice signal distortions with the objective measure log-spectral distortion (LSD). Tukey's test was conducted to evaluate the degree of consonant distortion related to voicings (voiceless and voiced), places of articulation (bilabial, alveolar, alveolo-palatal, palatal, velar, labial-velar, and glottal), and manners of articulation (plosive, fricative, affricate, tap or flap, nasal, and approximant). With statistically significant differences, voiced, bilabial, labial-velar, nasal, and plosive consonants exhibited smaller distortions. In contrast, voiceless, alveolo-palatal, fricative, and affricate consonants exhibited larger distortions. Google Meet exhibited the lowest distortion among videoconferencing platforms and MacBook exhibited the lowest distortion among devices. This study provides significant insights into the telepractice strategies with the appropriate videoconferencing platform and device, and useful settings for cleft palate patients with compensatory articulations with respect to acoustics.

Lung involvement in children with congenital cytomegalovirus infection has been scarcely described. We describe three new cases of persistent pulmonary hypertension in children with congenital cytomegalovirus and review the other seven cases reported in the literature since 1988. All children had a symptomatic infection, including severe central nervous system or visceral findings. Morbidity and mortality were high. Persistent pulmonary hypertension may be a rare complication in severely symptomatic congenital cytomegalovirus infants. It is important to screen for congenital cytomegalovirus in cases of idiopathic refractory persistent pulmonary hypertension. Intensive treatment should be undertaken to treat this potentially rare lung involvement in combination with antiviral treatment.

This systematic review and meta-analysis evaluated the safety of montelukast in treating asthma during pregnancy, focusing on maternal and fetal outcomes such as congenital anomalies (CA), preterm delivery, low birthweight, spontaneous abortion, gestational diabetes mellitus, and preeclampsia. A comprehensive literature search was conducted in Google Scholar, PubMed, and the Cochrane Library databases from inception until April 30, 2024. The eligible studies assessed the safety of montelukast for asthma treatment during pregnancy. The review suggests that montelukast use during pregnancy may not significantly increase the risk of major CA. The pooled results yielded risk ratio (RR) for CA was 1.13 [95% CI (0.74, 1.73), p = 0.56, I² = 0%]. Montelukast may be associated with preterm delivery and a low birthweight odds ratio (OR) of 1.82 [95% CI (1.35, 2.45), p < 0.001, I² = 0%]. No significant risks were found concerning neurodevelopmental outcomes. The associations with spontaneous abortion were inconclusive [OR = 1.03, 95% CI (0.72, 1.5), p = 0.86, I² = 73%], highlighting the need for further research. This comprehensive review underscores the importance of further investigating the safety profile of montelukast during pregnancy. While the overall findings indicate a relatively favorable safety profile, especially regarding major CA, careful consideration is needed for the potential risks of preterm delivery and low birthweight.

This pharmacovigilance study investigated the relationship between antiepileptic drugs and congenital strabismus, utilizing the FDA Adverse Event Report System database between 2014 and 2023. Out of 28 347 889 reports of adverse events in 10 937 764 cases, we identified 1104 reports of strabismus and 67 of congenital strabismus. Valproic acid was the most frequently implicated primary suspect drug (95 and 14 cases, respectively). Ninety-five reports involved transplacental valproic acid exposure, yielding an information component (IC) of 7.06 (IC-2 × standard deviation: 5.50). A multivariate analysis showed that transplacental exposure to valproic acid correlated with strabismus (adjusted odds ratio: 8.47, 95% CI: 6.74–10.65). We revealed a robust safety signal linking valproic acid to congenital strabismus.

Polydactyly is typically observed as isolated and sporadic occurrences, although familial cases do exist, albeit with lower frequency, manifesting in various inheritance patterns. In around 30% of polydactyly cases, there exists a familial history, suggesting the probable involvement of a single gene. Given its potential for hereditary transmission, thorough investigation of the patients' parents, first-degree relatives, grandparents, and even great-grandparents for similar disorders becomes imperative. In our clinic, we conducted an analysis focusing on patients presenting with foot polydactyly, along with occurrences of polydactyly among their first- and second-degree relatives spanning two to three generations of family history. The study encompassed three patients and their respective families, including a pair of siblings. We speculate that the inheritance type in our cases was autosomal dominant. Among our patients, one presented with central polydactyly, while the remaining patients and all familial cases displayed postaxial polydactyly. In terms of morphologic classification, one patient had a Y-shaped metatarsal, another had a T-shaped metatarsal, and the third patient exhibited a duplicated ray-shaped anomaly. In our review of the literature, we haven't come across a case spanning three generations like the ones we encountered. Additionally, the presence of a transverse accessory extensor tendon between both extensor tendons in cases with T- and Y-shaped metatarsals intrigued us from an anatomical perspective. Our goal is to present these rare cases of congenital familial polydactyly spanning three generations, highlighting the anatomical variations observed and aiming to contribute to the existing body of literature on the subject.

Given the paucity of safety data on fluoroquinolone antibiotics in pregnancy, a prospective observational cohort study was conducted in pregnant women who sought help and advice on drug use at two teratology information institutes in Japan. The primary endpoint of the study was the incidence of major congenital anomalies. The study population included pregnant women exposed to (i) fluoroquinolones (fluoroquinolone group), (ii) β-lactams (infectious control group), or (iii) other agents considered to be nonteratogenic in humans (nonteratogenic control group) during the first trimester. The frequency of major congenital anomalies was compared across groups using a logistic regression model that adjusted for maternal age, smoking status, drinking status, facility consulted, and time of consultation. The fluoroquinolone group consisted of 411 women who had 383 children born alive. The infectious control and nonteratogenic control groups consisted of 1416 and 1482 women who had 1322 and 1401 children born alive, respectively. The incidence of major congenital anomalies was 1.5%, 2.0%, and 1.6% in the fluoroquinolone group, infectious control, and nonteratogenic control groups, respectively. Logistic regression showed that fluoroquinolone exposure is not a significant risk factor for major congenital anomalies. In conclusion, first-trimester exposure to fluoroquinolone antibiotics was not associated with increased maternal or fetal risks.

There is an increase in the worldwide prevalence of congenital abdominal wall defects (CAWD), with gastroschisis (GS) and omphalocele (OC) being the most common. It is widely accepted that folic acid supplementation (FAS) in the maternal diet decreases the incidence of anomalies such as neural tube defects, but there is controversy regarding the possible beneficial role for other congenital malformations. Several epidemiological studies raise controversy regarding a possible relationship between vitamin supplementation with the occurrence of abdominal wall malformations. The aim of the present study is to obtain an updated review of the global frequency of CAWD in neonates and the relationship with FAS in the mothers. For this we have carried out a systematic search of epidemiological studies in different article databases between 2011 and 2022. The analysis of 25 studies conducted in different countries where cases of OC and/or GS are registered directly or together with other congenital defects shows that 60% inquire into the relationship of FAS with the incidence of CAWD. Half of them proposes a beneficial effect of FAS and the other half find no association, concluding that there is no unanimous evidence that FAS in the maternal diet decreases the incidence of CAWD. However, it seems that an influential factor to take into account is the nutritional habits of the mothers.