Incidental Finding of Triple Ectopic Thyroid: Case Report and Review of the Literature.

Ectopic thyroid tissue is a rare congenital anomaly, with the presence of three simultaneous ectopic foci being exceedingly rare. We describe a case of a totally asymptomatic 26-year-old male discovered to have triple ectopic thyroid following incidental elevated thyroid-stimulating hormone (TSH) levels. Subsequent ultrasonography of the neck showed an absent thyroid gland in its conventional location. A Technetium-99m pertechnetate (Tc-99m) thyroid scan showed three distinct foci of radiotracer uptake in the upper cervical, lingual, and sublingual regions, corresponding to triple ectopic thyroid. An extensive review of the literature was conducted to provide a broader understanding and deeper insights into this uncommon condition. This case underscores the pivotal role of Technetium-99m thyroid scanning in diagnosing triple ectopic thyroid, particularly in instances where the orthotopic thyroid gland is absent. A comprehensive understanding of this rare entity is indispensable for radiologists and clinicians, enabling accurate diagnosis and informed decision-making regarding the appropriate therapeutic strategies.

Effects of Neonicotinoid Pesticide Metabolic Compounds on Medaka (Oryzias latipes) Embryo Development.

Neonicotinoids, including imidacloprid, are pesticides that resemble nicotine and undergo slight chemical alterations through metabolic changes in the environment. However, the effects of these metabolites on organisms remain unknown. In this study, we assessed the developmental processes of medaka embryos exposed to neonicotinoid metabolites. The target compounds were imidacloprid metabolites: 2-chloro-5-pyridine carbaldehyde (CPC) and 6-chloronicotinic acid (6-CNA). Medaka embryos within 6 h of fertilization were exposed to the compounds, and their developmental processes were observed under a stereomicroscope. Medaka embryos exposed to 5 mg/L CPC showed no abnormalities compared to the controls. Contrastingly, medaka embryos exposed to 10, 15, and 20 mg/L CPC showed abnormalities such as thrombus formation, asymmetry, disorganized development of the eyeballs, and low blood flow. This trend was more pronounced at higher CPC concentrations. On the other hand, embryos exposed to 80 and 160 mg/L 6-CNA showed no abnormalities until day 7 of exposure. However, on day 8 of exposure, sudden embryo death was observed. Both compounds may have bound to acetylcholine receptors as agonists; however, their effects were different. CPC caused abnormal development and 6-CNA caused inhibition of hatching gland development and/or synthesis of the hatching enzyme.

Management of Palatogingival Groove in Maxillary Lateral Incisor: A Report of a Rare Case With a Brief Review of Literature.

Several morphological abnormalities may occur during tooth development and may be a predisposing factor for periodontal destruction. Palatogingival groove (PGG) is a developmental deformity that may cause localized periodontitis and endodontic complexities. The groove usually originates as a root indentation in the central fossa of the palatal root of maxillary lateral incisors. Cone beam computed tomography (CBCT) is an excellent radiographic imaging technique capable of identifying PGGs and provides details about the exact site, extent, and depth characteristics of this deformity. Early diagnosis and management of PGGs are of utmost importance, particularly due to their diagnostic intricacies that can pose both clinical and therapeutic challenges. This article aims to report a rare case of palatogingival groove associated with an on-and-off discharge from the maxillary left lateral incisor tooth (#22). Nonsurgical endodontic treatment was carried out with #22, and the palatogingival groove was sealed with composite restoration after a deep curettage. Excellent radiographic healing was observed after a six-month follow-up.

Canine intrahepatic portosystemic shunts: Interlobar and intralobar classifications.

This two-part study design showed that a canine congenital intrahepatic portosystemic shunt (IPSS) may be classified by its location within a liver fissure (interlobar) or lobe (intralobar). A prospective anatomic study reviewed normal canine liver morphology and showed the CT angiography (CTA) appearance of the normal canine ductus venosus (DV), which was confirmed via dissection and literature review to be between the papillary process and left-lateral liver lobe (in the fissure for ligamentum venosum). A retrospective multi-institutional case series documented the frequency of imaging findings in 56 dogs with a single IPSS that underwent portal CTA at Cornell University or the Schwarzman Animal Medical Center between June 2008 and August 2022. An interlobar IPSS was seen in 24 of 56 (43%) dogs, all arose from the left portal branch except one. These shunts were typically near the median plane, remained interlobar throughout the course, and were nearly always (96%) craniodorsal to the porta hepatis. Four types were distinguished: patent DV (11 dogs), left interlobar (11 dogs), right interlobar (1 dog), and ventral interlobar (1 dog). Only about half (46%) were in the fissure for ligamentum venosum and therefore classified as a patent DV. An intralobar IPSS was seen in 32 of 56 (57%) dogs, most (88%) originated from the right portal branch and were in the right-lateral liver lobe (21 dogs) or caudate process (7 dogs). During canine portal CTA, documenting the interlobar or intralobar location of an IPSS might increase the consistency and validity of IPSS description.

A Rare Presentation of Zinner Syndrome.

Zinner syndrome is a rare developmental anomaly of the distal Wolffian duct. It is characterized by a triad of unilateral renal agenesis, cysts in the ipsilateral seminal vesicle, and ipsilateral obstruction of the ejaculatory duct. While some patients are asymptomatic and diagnosed incidentally, other patients may present with symptoms related to obstructed ejaculatory ducts and seminal vesicle cysts. We report a unique case of a 32-year-old male who presented with pelvic pain for three days.

A Case of Isolated Bilateral Femoral Bifurcation in Saudi Arabia.

Bifurcation of the femur is a rare congenital orthopedic anomaly that is usually accompanied by tibial agenesis. Femoral bifurcation has been a part of the Gollop-Wolfgang complex criteria, which also include the tibia and fibula deformities with or without other variant abnormalities. Approximately 200 cases have been reported worldwide. This article presents a case of isolated bilateral distal femur bifurcation in a three-and-a-half-year-old girl who presented with abnormal gait and bilateral knee contractures. Extensive studies were performed to aid an appropriate diagnosis and treatment plan, including clinical history, physical examination, laboratory, and other investigations. After multiple consultations from different specialties, a gradual deformity correction was suggested as a treatment of choice. To our knowledge, there is a paucity of reported cases in the medical literature. Further research and case reporting are essential to better define the pathogenesis, prognosis, and treatment of such conditions.

Rare variant of dens invaginatus with accessory root and labial talon cusp in maxillary lateral incisor-Case report.

Dens invaginatus (DI) often causes dysmorphic changes in both the crown and root. This case report presents a complicated type 3a DI in a maxillary lateral incisor with labial talon cusp and root bifurcation. Although lingual talon cusp is common in maxillary lateral incisor, labial talon cusp is rare. An auxiliary palatal root in maxillary lateral incisor is also unusual. No such case involving all three variations has been described in the literature. The DI was classified as type B4 according to Schulze and Brand, as it involved division of pulp and root. DI was managed by orthograde MTA, radisectomy and periodontal regeneration was done for the palatal root. Labial talon associated with DI and can lead to early periodontal/pulpal involvement. Type 3 DI can affect the root with marked dilatation and division. Additional palatal root should be carefully detected in type 3a DI and managed with the aid of CBCT.

Loss-of-function variant in the LRR domain of SLITRK2 implicated in a neurodevelopmental disorder.

Background: Neurodevelopmental disorders are characterized by different combinations of intellectual disability (ID), communication and social skills deficits, and delays in achieving motor or language milestones. SLITRK2 is a postsynaptic cell-adhesion molecule that promotes neurite outgrowth and excitatory synapse development. Methods and Results: In the present study, we investigated a single patient segregating Neurodevelopmental disorder. SLITRK2 associated significant neuropsychological issues inherited in a rare X-linked fashion have recently been reported. Whole-exome sequencing and data analysis revealed a novel nonsense variant [c.789T>A; p.(Cys263*); NM_032539.5; NP_115928.1] in exon 5 of the SLITRK2 gene (MIM# 300561). Three-dimensional protein modeling revealed substantial changes in the mutated SLITRK2 protein, which might lead to nonsense-medicated decay. Conclusion: This study confirms the role of SLITRK2 in neuronal development and highlights the importance of including the SLITRK2 gene in the screening of individuals presenting neurodevelopmental disorders.

Coexistence of Riedel's Lobe and Supernumerary Kidney as Random Imaging Findings.

Supernumerary kidney (SNK) is a rare congenital anatomical variation usually detected incidentally via imaging. Although a random finding, it may present with hydronephrosis, calculi or malignancy. Both its vascularization and its drainage vary significantly, depending on its location and shape. Riedel's lobe is a normal, though rare, variant of liver anatomy presenting either as a downward projection of the inferior border of the right liver lobe or as a triangular pyramidoid projection to the right of the gallbladder. We present a case of a 71-year-old man who was initially admitted to the hospital for backache. Computed tomography (CT) imaging revealed the simultaneous occurrence of a left supernumerary kidney and Riedel's lobe. The SNK lay caudally to the normal kidney, it was supplied by a branch of the superior mesenteric artery and its drainage was supported by a bifid ureter. The Riedel's lobe represented the "tongue-like" variant without causing any symptoms to the patient. Both entities should be monitored carefully, as their presence may require surgical management should they raise a sequence of symptoms or, as in this case, modify the surgical plans in the context of other coexisting medical events.

The risk of major structural birth defects associated with seasonal influenza vaccination during pregnancy: A population-based cohort study.

INTRODUCTION: Seasonal inactivated influenza vaccine (IIV) is routinely recommended during pregnancy to protect both mothers and infants from complications following influenza infection. While previous studies have evaluated the risk of major structural birth defects in infants associated with prenatal administration of monovalent pandemic IIV, fewer studies have evaluated the risk associated with prenatal seasonal IIV. METHODS: We conducted a population-based cohort study of 125,866 singleton births between 2012 and 2016 in Western Australia. Birth registrations were linked to the state's registers for congenital anomalies and a state prenatal vaccination database. We estimated prevalence ratios (PR) of any major structural birth defect and defects by organ system. Vaccinated pregnancies were defined as those with a record of IIV in the first trimester. Inverse probability treatment weighting factored for baseline probability for vaccination. A Bonferroni correction was applied to account for multiple comparisons. RESULTS: About 3.9% of births had a major structural birth defect. Seasonal IIV exposure during the first trimester was not associated with diagnosis of any major structural birth defect diagnosed within 1 month of birth (PR 0.98, 95% CI: 0.77, 1.28) or within 6 years of life (PR 1.02, 95% CI: 0.78, 1.35). We identified no increased risk in specific birth defects associated with seasonal IIV. CONCLUSION: Based on registry data for up to 6 years of follow-up, results suggest there is no association between maternal influenza vaccination and risk of major structural birth defects. These results support the safety of seasonal IIV administration during pregnancy.

Fetal Amelia With Hypoplastic Tibia and Terminal Fibular Hemimelia: A Case Report With Review of the Literature.

Congenital limb deformities, with a birth frequency of 0.55 per 1,000, are extremely rare prenatal defects that can present with either partial or complete lack of a limb or a specific portion of a limb. Amelia is a sporadic anomaly that is defined by the complete absence of a limb's skeletal elements, whereas hypomelia is defined by the incomplete development of a limb's skeletal elements. We present the case of a neonate with gross facial deformities in the form of the absence of both external ears and a saddle-shaped nose. The absence of the right lower limb bud was seen. The left lower limb was underdeveloped, noted only up to the thigh region with the hypoplastic distal part of the leg and absent foot. Genitals and the anus were absent. To the best of our knowledge, this case is exceptional in that congenital limb abnormalities are present at birth along with accompanying genital underdevelopment.

Consecutive tooth agenesis patterns in non-syndromic oligodontia.

Agenesis of two or more consecutive adjacent permanent teeth (consecutive tooth agenesis, CTA) is a serious manifestation of oligodontia requiring long-term, multi-disciplinary treatment. Therefore, the present study investigated the characteristics of the CTA pattern in orthodontic patients with non-syndromic oligodontia. Using panoramic radiographs, the number of agenetic permanent teeth excluding third molars in non-syndromic orthodontic patients was evaluated, and patients with six or more agenetic teeth (oligodontia group, n = 97) and with one to five agenetic teeth (hypodontia group, n = 107) were selected. The numbers of CTA including third molars in each quadrant and in each patient were compared between the groups. Each quadrant with CTA of patients was categorized into one of the following four types: (I) involves anterior teeth only; (II) involves posterior teeth only; (IIIA) includes anterior and posterior teeth; and (IIIB) separate in the anterior and posterior teeth. CTA in at least one quadrant was found in 91.8 and 4.7% of patients in the oligodontia and hypodontia groups, respectively. The highest frequency CTA patterns included agenesis of the first and second premolars and of the second and third molars in the oligodontia and hypodontia groups, respectively. In the oligodontia group, type IIIA was significantly more frequent in the maxillary than in the mandibular quadrant. Most oligodontia patients who visit orthodontic clinics have CTA. A rare but severe CTA pattern that continues from the anterior to posterior segments is more frequent in the maxillary than in the mandibular quadrant.

Role of aberrant Sonic hedgehog signaling pathway in cancers and developmental anomalies.

Development is a sophisticated process maintained by various signal transduction pathways, including the Hedgehog (Hh) pathway. Several important functions are executed by the Hh signaling cascade such as organogenesis, tissue regeneration, and tissue homeostasis, among various others. Considering the multiple functions carried out by this pathway, any mutation causing aberrant Hh signaling may lead to myriad developmental abnormalities besides cancers. In the present review article, we explored a wide range of diseases caused by aberrant Hh signaling, including developmental defects and cancers. Finally, we concluded this mini-review with various treatment strategies for Hh-induced diseases.

Prevalence of talon cusp: Systematic literature review, meta-analysis and new scoring system.

OBJECTIVES: Talon cusp is a developmental anomaly consisting of a vertical ridge or cusp projecting labially or lingually from an anterior permanent or primary tooth. A range of prevalence between 0.06 % and 40.8 % has been reported in the literature. Although many epidemiological studies have been conducted, no synthesis of these data has been performed to date. The aim of this paper was to determine the prevalence of talon cusp and to investigate the link between sex and talon cusp. SOURCE: A systematic search was undertaken using the PubMed/Medline, Embase and Cochrane Library electronic databases for publications from 1981 to 2020 investigating the prevalence of talon cusp and the link between talon cusp and sex. STUDY SELECTION: Three reviewers selected the studies independently, extracted the data in accordance with the PRISMA statement, and assessed the risk of bias via the GRADE & Cochrane approaches. RESULTS: From 39 potentially eligible studies, 9 were selected for full text analysis and 8 were included in the meta-analysis, representing 35,224 participants. The meta-analyses were performed with a random model, calculating a weighted-mean prevalence (at least one talon cusp per individual) of 1.67 %. Sex and talon cusp were not statistically significantly associated in our study (OR = 1.10; 95 % CI [0.82-1.47]; p > 0.05). DISCUSSION: We report the first prevalence of talon cusp provided by meta-analysis in a non-syndromic sample. A non-statistically significant association between sex and talon cusp is relevant in terms of genetic etiology. In order to improve the homogeneity and accuracy of the results of further studies, we propose a new universal scoring system for talon cusp. CLINICAL SIGNIFICANCE: Talon cusp is a developmental anomaly with various clinical implications. Therapeutics may vary from simple monitoring to extraction of the supporting tooth. This condition occurs in approximately 1.67 % of the population.

Mild toxicity of polystyrene and polymethylmethacrylate microplastics in Paracentrotus lividus early life stages.

The vast category of microplastics in the marine environment, encompassing among other aspects their persistence, degradation and impact on biota, has become an important topic of research. In spite of environmental health concerns, much work has yet to be done on understanding the potential roles of polymer sources, composition and particle sizes in causing adverse effects which have already been observed in a number of biota. The present study was aimed at adding to current knowledge by verifying if, and to what extent, embryogenesis in the sea urchin species Paracentrotus lividus is adversely affected by polystyrene and polymethylmethacrylate virgin microparticles over a size range 1-230 µm and at concentrations of 0.1-10 mg L-1. Developing embryos which came in contact with the microplastics only after fertilisation did not display a significant increase of developmental defects. Unlike embryo exposures, when P. lividus sperm were exposed to the microplastics or their leachates, modest, yet significant effects were observed, both in terms of decreased fertilisation rate and increase of transmissible damage to offspring. Further, it was noted that larvae more readily ingested polymethylmethacrylate than polystyrene microparticles after 3 days which may represent a route for enhancing the toxicity of the former compared to the latter. Overall, these findings provide evidence for lesser sensitivity of P. lividus early life stages to microplastics compared to other urchins such as Sphaerechinus granularis. In turn, the more robust response of P. lividus highlights the importance of choosing an appropriate test species with the highest sensitivity when investigating mildly harmful materials.

A Rare Case of Radicular Dens Invaginatus (Dens in Dente) in a Dog.

A rare case of radicular dens invaginatus (dens in dente) was found during dental cleaning of a 5-year-old male Rottweiler dog. Radiographic examination revealed intense radiopacity, which extended from the crown to the apical root region of the affected tooth. Macroscopically, the crown of the left maxillary first molar tooth (209) had irregular and deformed buccal and lingual surfaces. Microscopic examination revealed dentine invagination in the pulp cavity in of the crown and root and pulp necrosis. Based on the gross, radiographic and histological findings, a diagnosis of radicular dens invaginatus was made.

Hemimelia tibial izquierda con pie equino varo aducto bilateral y ausencia del tercer rayo de la mano izquierda. Reporte de Caso / Left tibial hemimelia with bilateral clubfoot and absence of the third ray of the left hand. Case Report

La hemimelia tibial se puede presentar en una gran variedad de espectros, desde la hipoplasia tibial hasta la ausencia completa de la tibia con o sin compromiso adjunto cuadricipital, ligamentario, patelar, fibular y/o femoral; esto ha dado lugar a múltiples clasificaciones con implicaciones anatómicas y terapéuticas. Esta enfermedad se ha descrito desde 1841, sin embargo, es la deficiencia más rara en las extremidades inferiores, siendo la más común la deficiencia fibular. Presentamos un paciente con diagnóstico antenatal de pie equino varo bilateral, agenesia de la tibia izquierda y comunicación aurículo ventricular (CIA) con cariotipo normal. Al nacer presenta fascies normales. Se confirma con radiografías la ausencia del tercer rayo de la mano izquierda y la ausencia de la tibia izquierda con ensanchamiento del peroné, tipo 5C en la clasificación de Paley, y pie equino varo aducto bilateral. Nivel de Evidencia: IV

Tibial hemimelia is a broad spectrum disorder, from tibial hypoplasia to complete absence of the tibia with or without quadricipital, ligament, patellar, fibular and / or femoral attachment. This has led to multiple classifications, with their anatomical and therapeutic implications. Although this disorder has been described since 1841, it is the rarest deficiency in the lower extremities, with the most common being fibular deficiency. The case is presented on a patient with an antenatal diagnosis that included bilateral congenital talipes equinovarus, agenesis of the left tibia, and atrioventricular communication with normal karyotype. The facies were normal at birth. Radiographs confirmed the absence of the third ray of the left hand and the absence of the left tibia, with widening of the fibula, type 5C in Paley classification, and bilateral congenital talipes equinovarus. Evidence Level: IV

Multi-analytic study of a probable case of fibrous dysplasia (FD) from certosa monumental cemetery (Bologna, Italy).

OBJECTIVE: To evaluate, via a multidisciplinary approach, a distinctive paleopathological condition believed to be fibrous dysplasia, found on a 19th/20th century skeleton from Certosa Monumental Cemetery, Bologna, Italy. MATERIALS: A skeletonized cranium and mandible recovered from an ossuary in 2014. METHODS: Pathological alterations were analysed by radiological examination, dental macrowear, histopathological and genetic analyses. RESULT: The skeleton is believed to be an adult male. Differential diagnoses include Paget's disease, McCune-Albright syndrome, osteochondroma and osteosarcoma. The radiographic findings, along with the solitary nature of the lesions, are strong evidence for the diagnosis of fibrous dysplasia (FD). Genetic analysis further revealed a frequency of ˜1% of mutant alleles with the R201C substitution, one of the post-zygotic activating mutation frequently associated with FD. CONCLUSIONS: The multi-analytical method employed suggests a diagnosis of monostotic form of FD. The diagnostic design incorporates multiple lines of evidence, including macroscopic, histopathological, and genetic analyses. SIGNIFICANCE: Through the use of a multi-analytic approach, robust diagnoses can be offered. This case serves as one of the oldest examples of FD from an historical context. The genetic mutation detected, associated with FD, has not been previously reported in historical/ancient samples.

Craniofacial cephalometric morphologies in different cleft types: a retrospective cross-sectional study of 212 patients.

OBJECTIVE: The aim of this study was to evaluate and compare the craniofacial cephalometric morphologies among different cleft types in a Spanish population. METHODS: A retrospective cross-sectional study was carried out on 212 patients. The patients were subdivided into four groups according to their cleft types: unilateral cleft lip and palate; bilateral cleft lip and palate; cleft lip; and cleft palate. Angular and linear cephalometric measurements were taken on lateral radiographs. RESULTS: Unilateral cleft lip and palate was associated with a dolichofacial growth pattern, skeletal Class III with correct maxillary position, and lingual incisor inclination. Bilateral cleft lip and palate was associated with a mesofacial growth pattern, skeletal Class I with protruded maxillary position, and lingual incisor inclination. Cleft palate was associated with a mesofacial growth pattern, skeletal Class III with correct maxillary position, and lingual incisor inclination. Cleft lip was associated with a brachyfacial growth pattern, skeletal Class I with protruded maxillary position, lingual upper incisor inclination, and corrects lower incisor inclination. Significant correlations were observed between cleft types and their craniofacial cephalometric measurements. CONCLUSIONS: The present information can be used for the determination of orthodontic treatment and even future orthognathic surgery planning, a requirement in most cleft patients.

Persisting Embryonal Infundibular Recess: Case Report and Imaging Findings.

BACKGROUND: Persisting embryonal infundibular recess (PEIR) is a rare anomaly of the third ventricular floor, with only 10 cases having been reported to date. Accurate imaging diagnosis of this entity is essential to avoid unnecessary surgery and its associated morbidity. The following case is presented to emphasize its recognition in the differential diagnosis of pituitary cystic lesions. CASE DESCRIPTION: A 38-year-old woman was referred for evaluation of a pituitary cystic mass. Magnetic resonance imaging (MRI) revealed a 10.2-mm cystic mass in an enlarged sella turcica. Three-dimensional high-resolution MRI using constructive interference in steady-state sequence clearly delineated a communicating tract between the third ventricle and the sellar cyst through pituitary stalk. A final diagnosis of PEIR was made. The patient was managed successfully with conservative treatment, and the lesion was in a stationary condition over a 5-year follow-up period. CONCLUSIONS: This is the first case report demonstrating imaging features of PEIR in 3-dimensional high-resolution MRI. Although PEIR is a rare anomaly, imaging diagnosis of this entity is important because confusion with other pituitary cystic lesions and the attempt of surgical removal may lead to serious complications.