Prenatal Diagnosis of Cleft Lip and Palate: A Retrospective Study.

Cleft lip and/or palate are prevalent congenital anomalies. Early and accurate diagnosis allows proper case management. The Objective: This retrospective cohort study aimed to investigate the association between cleft lip and palate and other congenital anomalies. Methods: This study analyzed 17 pregnancies prenatally diagnosed with cleft lip and palate. The investigations consisted of ultrasound examination, fetal karyotyping through amniocentesis, and family tree analysis. In the presence of an abnormal fetal karyotype, the parental karyotype was also indicated. Results: Of the 17 cases identified, 9 (52.94%) were syndromic and 8 (47.06%) were non-syndromic. The genetic syndromes identified in association with cleft lip and palate in this study included translocation syndrome (one case), Patau syndrome, trisomy 13 (seven cases), and Edwards syndrome, mosaic trisomy 18 (one case). Conclusions: A comprehensive approach ensures a thorough assessment and accurate diagnosis. Early detection and a multidisciplinary approach allow appropriate case management.

Impact of Malocclusions on Periodontopathogenic Bacterial Load and Progression of Periodontal Disease: A Quantitative Analysis.

BACKGROUND: (1) Periodontal disease (PD) is a globally prevalent chronic inflammatory condition, exacerbated by the dysbiosis of the oral microbiota. This study aims to evaluate the bacterial load of specific periodontopathogenic bacteria in patients with malocclusions (MAL) compared to those without. (2) Methods: Conducted at the "Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania, this pilot study involved two groups: patients with MAL and PD, and patients with PD but without MAL. We included 20 patients: 10 with MAL (9 with crowding and 1 with an open bite) and 10 without MAL. Gingival crevicular fluid was collected for bacterial DNA extraction and quantified bacterial load using real-time PCR, focusing on 12 periodontopathogenic bacteria across different complexity classes. (3) Results: The study identified significantly higher concentrations of Treponema denticola (p = 0.023, median = 4.32, IQR = 2.76-5.53 vs. median = 1.93, IQR = 0-3.19), Tannerella forsythia (p = 0.020, mean = 6.04 ± 0.72 vs. mean = 4.4 ± 1.89) and Porphyromonas gingivalis (p = 0.002, median = 5.64, IQR = 4.94-5.98 vs. median = 2.48, IQR = 0-4.05) in patients with MAL compared to those without. This suggests that MAL contributes to an environment conducive to the proliferation of specific pathogens, potentially accelerating PD progression. Additionally, Eikenella corrodens (p = 0.040, mean = 4.55 ± 1.02 vs. mean = 3.23 ± 1.56), Campylobacter rectus (p < 0.001, mean = 4.2 ± 0.56 vs. mean = 1.8 ± 1.51), Prevotella intermedia (p = 0.043, median = 5.04, IQR = 0-5.49 vs. median = 0, IQR = 0-3.39), Capnocytophaga sputigena (p = 0.011, median = 5.91, IQR = 5.47-6.17 vs. median = 4.63, IQR = 3.83-5.64), and Capnocytophaga gingivalis (p = 0.007, median = 5.87, IQR = 5.34-6.03 vs. median = 4.4, IQR = 3.5-5.71) also showed elevated concentrations, indicating the broad impacts of MAL on oral microbial profiles. (4) Conclusions: The findings demonstrate a significant relationship between MAL and increased bacterial loads, underscoring the need for its integration in managing PD. Future research should expand demographic diversity and employ longitudinal designs to better understand the causative mechanisms at play.

Oral Mycobiota: A Narrative Review.

Numerous studies have proven the important role of the oral microbiota in health and disease. The dysfunctionality of the oral microbiota, known as dysbiosis, is incriminated in dental caries, periodontal disease, oral infectious diseases, oral cancer, and systemic disease. The lesser-known component of the oral microbiota, the mycobiota, is now assiduously investigated. Recent technological developments have helped foster the identification of new fungal species based on genomic research. Next-generation sequencing has expanded our knowledge about the diversity, architecture, and relationships of oral microorganisms within the oral cavity. The mycobiome structure and relationships with the bacteriome have been studied to identify a mycobiotic signature. This review aimed to emphasize the latest knowledge of the oral mycobiome.

Assessing the morphological characteristics of teeth and dental arches as potential predictors of dental crowding.

Background and aims: The early detection of dental crowding and its potential for aggravation is important during the clinical examination of mixed dentition patients, and these desiderates can be addressed by including among the clinically assessed items a series of accessible morphological characteristics of teeth and dental arches. The present study investigates possible correlations between morphological features of permanent teeth, widths of dental arches, and the onset of dental crowding during mixed dentition. Methods: A selected group of 100 class I dental casts on mixed dentition was analyzed. The dental arches were grouped as spaced, normally aligned, and crowded. The dental parameters consisted of mesiodistal dimensions of permanent teeth and specific morphological features of permanent incisors and first molars. The anterior and posterior arch widths according to Pont indices were measured. Results: Statistical analysis of data showed that mesiodistal dimensions of the permanent upper central incisors and lower incisors are significantly larger on severely crowded arches than on normally aligned arches; increased differences between mesiodistal dimensions of central and lateral permanent upper incisors and the presence of semi-shavel incisors and Carabelli cusps are associated with a greater extent of anterior crowding. The severely crowded arches presented significantly narrower anterior and posterior arch widths. Conclusions: Increased mesiodistal dimensions of permanent incisors, the presence of incisors shoveling, the Carabelli cusps on upper first permanent molars, and narrowing of dental arches during the early mixed dentition period were associated with severe dental crowding in class I cases.

Research algorithm for the detection of genetic patterns and phenotypic variety of non-syndromic dental agenesis.

INTRODUCTION: Dental agenesis (DA), brings together the anodontia, oligodontia, hypodontia, characterized by a deficit in the development of a variable number of teeth. The objectives of the study were to illustrate the phenotypic variability of non-syndromic DA, to identify cases of DA with hereditary genetic transmission, and establish the mode of DA genetic pattern in these cases, together with the determination of DA prevalence in the population group study. PATIENTS, MATERIALS AND METHODS: The cross-sectional observational study was performed on a mixed population group, consisting of 861 Caucasian patients, between January 2018-December 2019. The clinical evaluation protocol of patients with DA, used to illustrate their phenotype, included the following stages: oral examination, photographic examination, and radiological examination. The evaluation protocol specific to the family genetic study of patients with DA, involved the following three stages: family survey, construction of the family tree and analysis of the pedigree structure. RESULTS: The prevalence of DA in the population group was 2.78%. Regarding the phenotype, DA mainly affected the upper arch (50% of cases); bilateral DA had a significantly increased incidence (83.33% of cases) compared to unilateral form; in most cases (75%), a patient lacked one to two teeth, the lack of two teeth being the most common form (83.33% of cases); the upper lateral incisors were the teeth most frequently involved in DA (31.11% of the total missing teeth). Regarding the family genetic study, hereditary DA with autosomal dominant inheritance was present in 37.50% of cases. In the other cases (62.50%), isolated, sporadic forms of DA were registered, suggesting a spontaneous de novo mutation or a disorder of odontogenesis of a non-genetic nature. CONCLUSIONS: We consider that this study is of interest for current scientific research with applicability in dental medicine, by bringing actual information on the prevalence of non-syndromic DA in South-East Romania, the variety of phenotypic spectrum of DA for this geographic area, and the role of heredity in the DA genetic determinism in the studied population.

Current opportunities and new horizons into the genetic study of infertility.

INTRODUCTION: An estimated 12.5% of couples experiencing fertility problems and almost 12% of reproductive age women have turned to health services at least once due to infertility. First trimester miscarriage is the most common clinical manifestation of infertility associated with a genetic cause. PATIENTS, MATERIALS AND METHODS: The scientific research was conducted at A.S. Medical Center in Bucharest, Romania, between January 2016 and December 2018, on a representative group of 1264 Caucasian patients diagnosed with infertility, from which the study group was selected, consisting of 273 patients who were further genetically investigated. RESULTS: Chromosomal instability, identified in 14% of patients, has been encountered most frequently in women (7%), and least often in fetuses (2%), unlike other chromosomal anomalies, identified in 55% of patients, which were more common in fetuses (27%) and least frequently in men (9%). Recurrent pregnancy loss due to genetic causes was identified in 53% of cases, being determined by chromosomal instability in 16% of cases and by other chromosomal anomalies in 37% of cases. Infertility due to a genetic cause was identified in 83% of cases, being determined by chromosomal instability in 17% of cases and by other chromosomal anomalies encountered in 66% of cases. In genetic risk pregnancies in evolution, fetal chromosomal anomalies were detected in 94% of cases, the most frequent being aneuploidy and polyploidy. Cytogenetic studies carried out on tissue fragments taken from aborted products of conception revealed the presence of a genetic cause in 57% of cases, an abnormal chromosome number being the most common (36%). The analysis of microdeletions of the long arm of the Y chromosome indicated that 5.5% of men with infertility are affected by this condition. CONCLUSIONS: Although genetic tests are considered complex and expensive laboratory investigations, they are crucial in identifying the etiology of over 40% of infertility cases associated with genetic factors, as well as in the correct and effective management of infertility.

Phenotypic heterogeneity of non-syndromic supernumerary teeth: genetic study.

BACKGROUND: Numerical dental anomalies, through their phenotypic diversity and etiological complexity, represent a very topical chapter in dental practice. In Romania, there is no recent complex genetic study, regarding supernumerary teeth (ST), as a whole. PATIENTS, MATERIALS AND METHODS: In this research, through the specific genetic study of the phenotypic variability of ST, completed with clinical examinations and paraclinical investigations, to which statistical determinations were added, we performed a complex genetic-clinical and statistical analysis of ST, within a representative group, consisting of 574 patients, who came for specialized dental treatment, between 01/01/2018-05/30/2019, at the private dental offices (Lucky Dental), in Bucharest, Romania. RESULTS: Following this study, it was possible to characterize the phenotypic variability of ST, to analyze the pattern of abnormality genetic transmission in the families of investigated patients, to identify people at risk, and specify the therapeutic conduct of choice, specific to each case. CONCLUSIONS: We consider this paper to be of interest for medical practice by bringing new, recent data on the current prevalence of non-syndromic ST, their clinical phenotypes, and the specifics of their genetic determinism in the studied population group.

Genetics of congenital solid tumors.

When we discuss the genetics of tumors, we cannot fail to remember that in the second decade of the twentieth century, more precisely in 1914, Theodore Boveri defined for the first time the chromosomal bases of cancer. In the last 30 years, progresses in genetics have only confirmed Boveri's remarkable predictions made more than 80 years ago. Before the cloning of the retinoblastoma 1 (RB1) gene, the existence of a genetic component in most, if not all, solid childhood tumors were well known. The existence of familial tumor aggregations has been found much more frequently than researchers expected to find at random. Sometimes, the demonstration of this family predisposition was very difficult, because the survival of children diagnosed as having a certain tumor, up to an age at which reproduction and procreation is possible, was very rare. In recent years, advances in the diagnosis and treatment of these diseases have made it possible for these children to survive until the age when they were able to start their own families, including the ability to procreate. Four distinct groups of so-called cancer genes have been identified: oncogenes, which promote tumor cell proliferation; tumor suppressor genes, which inhibit this growth/proliferation; anti-mutational genes, with a role in deoxyribonucleic acid (DNA) stability; and micro-ribonucleic acid (miRNA) genes, with a role in the posttranscriptional process.

Prenatal diagnosis of syndromic alobar holoprosencephaly associated with digynic triploidy fetus.

Holoprosencephaly (HPE) is a dramatic human brain malformation sequence with an extreme variable phenotypic spectrum and genetic heterogeneity, variable degree of severity and unknown etiology, in many cases. HPE is classified into syndromic, chromosomal, and non-syndromic, non-chromosomal. The most cases of HPE are syndromic. We present an atypical case of syndromic alobar HPE associated with digynic triploidy fetus, prenatally diagnosed, early at 18 weeks of gestation, by ultrasound (US) and complex genetic investigations. The US examination was performed with a specialized US machine, General Electric Voluson E10 OLED BT18, using two-dimensional (2D) scanning, three-dimensional (3D) image reconstruction, four-dimensional (4D) spatiotemporal image methodology and the highest power Doppler US technology. A detailed US examination of the fetus revealed several major abnormalities of the fetal head and severe facial malformations. Based on the antenatal US findings, the fetus was diagnosed with alobar HPE. After a careful examination and genetic counseling, additional cytogenetic investigations and molecular genetic analyses were performed, which revealed an abnormal number of 69 chromosomes, digynic triploidy (69,XXY). Two days later, the parents choose to interrupt the current gestation because of major fetal malformations. The pathological examination of the embryo reaffirmed the antenatal diagnostics.

Impact of genetic testing and family health history of cystic fibrosis in the early prenatal diagnosis and prevention of a new case of genetic disorder.

Cystic fibrosis (CF) is a multi-system autosomal recessive disorder, results of mutations in the CF transmembrane conductance regulator (CFTR) gene, located on the long arm of chromosome 7. We present a special family couple with particular medical history of CF, who comes to our Clinic for genetic tests and a prenatal genetic counseling, to prevent the birth of a new affected CF child. Genetic analysis showed that the first affected child, a daughter, is compound heterozygous for two clinically significant recessive mutations: c.1521_1523delCTT; p.Phe508del, inherited from her mother, who carries the same CFTR mutation, and c.1853_1863delTTTTGCATGAA; p.IIe618Argfs 2, inherited from her father, who is heterozygous, healthy carrier, for the same CFTR mutation. In our case report, early prenatal genetic testing, pre- and post-test genetic counseling was crucial in the management of the present pregnancy, to prevent the birth of a new affected CF child.

The crucial role of SRY gene in the determination of human genetic sex: 46,XX disorder of sex development.

Prenatal diagnosis of disorder of sex development (DSD) is very rare and is estimated to occur in 1∕2500 pregnancies. A group of DSDs are the 46,XX testicular DSD. Today, the incidence of 46,XX testicular DSD is estimated at 1∕20 000 newborn males. A majority of males with DSD have an unbalanced X;Y exchange involving the pseudoautosomal region, with translocation of the sex-determining region of the Y (SRY) gene onto Xp23.3. We present a rare case of very early prenatal diagnosis and management of a fetus with SRY-positive 46,XX testicular DSD.

Delayed interval delivery in twin pregnancy - case reports.

The implementation of assisted reproduction has increased the incidence of multiple pregnancies. Prenatal death of one fetus in the second trimester of twin pregnancy confronts the obstetrician with a difficult problem with regard to the management of pregnancy. The scarcity of the condition and the absence of the large-scale studies make it difficult to advise the parents on the prognosis and optimal management. The unavoidable birth or death of one premature neonate has led to the aim of delayed interval delivery for the other twin. We present in this report two cases of twin pregnancies with delayed-interval delivery and favorable outcomes for the surviving twins. The twin pregnancies conceived by in vitro fertilization (IVF) in HitMed Medical Center, Craiova, Romania. In the first case, one fetus dismiss in utero at 20 weeks of gestation. The second fetus was successfully delivered by Caesarean section, at 36 weeks. In the second case, the first fetus was delivered at 22 weeks. To save the surviving fetus, ligation of the umbilical cord at the cervical level was performed. The second fetus was delivered at 31 weeks by Caesarean section, in good conditions. We describe our management of the cases and the deliveries and the neonatal outcomes. In multiple gestation, prolongation of pregnancy after preterm dismiss in utero or even after delivery of one fetus is feasible in a closely monitored environment.

Borderline Brenner tumors associated with ovarian cyst - case presentation.

Borderline Brenner tumors represent quite a rare entity of ovarian tumors (about 2%) that develop from the surface ovarian epithelium. They are formed from papillary structures made of fibrovascular conjunctive axes covered by a transition epithelium, similar to the urinary bladder epithelium. According to the WHO classification, Brenner tumors present the following forms: benign, borderline and malignant. The benign ones are the most frequent, representing about 95%, the borderline represent about 5%, and the malignant ones less than 1%. We present the case of a 64-year patient who was diagnosed with right ovary cyst. The histopathological examination highlighted the presence of a borderline Brenner tumor at the same time with the cystic lesion, on the same ovary. The surgical treatment led to a complete cure of the patient, so that the yearly ultrasound reexamination did not trace the presence of any tumoral relapse.

Diagnosis problems in a case of ovarian tumor - case presentation.

Ovarian epithelial tumors are the most common ovarian neoplasms, standing for more than half of all ovarian tumors. Borderline ovarian tumors represent a distinct group recognized by the World Health Organization (WHO), histologically distinct low ovarian carcinomas. They are tumors with low grade of malignancy with good progress and prognosis. The authors present a case of an ovarian tumor with diagnosis problems. It was the case of a 38-year-old patient with no genital pathological history, presenting hypogastric pain, dysmenorrhea, abdominal distension. The imaging performed examinations suggested an ovarian tumor with potential malignancy. The symptoms were nonspecific and the treatment was surgical. The piece was processed by paraffin inclusion and microscopically examined. Although the imaging examinations may be suggestive for potentially malignant lesions, the histopathological relation with the immunohistochemical one is the one that establishes the diagnosis. Following these examinations, there was established an ovarian borderline tumor. This is included in the lesions with low malignancy, the further evolution of the patient being a good one. The purpose of this presentation was the warning of the importance of histopathological examination linked with the immunohistochemical one, although the imaging may present lesions with malignancy criteria. Also, it was performed a literature review of borderline tumors in young women in terms of diagnosis and therapeutic conduct.