Prenatal Diagnosis of Turner Syndrome Mosaicism: A Case Report.

Turner syndrome is a chromosomal disorder affecting females characterized by the partial or complete absence of one X chromosome. The pathogenesis of Turner syndrome primarily arises from chromosomal nondisjunction during gametogenesis, leading to various genotypic presentations. The most common genotype is 45, XO, representing a monosomy of the X chromosome. However, mosaicism, where different cell lines carry distinct chromosomal compositions, is also observed in some cases. This paper presents a case of prenatal diagnosis of Turner syndrome mosaicism with a genotype of 45, XO/46, XY. The patient, initially managed by her obstetrician/gynecologist, was referred to a perinatologist at 20 weeks and four days of gestation due to multicystic kidney findings in the fetus. Initial non-invasive prenatal testing (NIPT) suggested trisomy 22, but confirmation through amniocentesis revealed mosaic Turner syndrome (45, XO/46, XY). The pregnancy culminated in the delivery of a phenotypically female infant at 39 weeks gestation. Mosaic 45, XO/46, XY presents with a broad spectrum of phenotypic variability, ranging from classic Turner syndrome features to ovotesticular disorder and genital ambiguity, and even male genitalia with infertility. Patients with mosaic Turner syndrome require multidisciplinary follow-up due to the complexity of their condition. Additionally, the presence of Y chromosome material significantly elevates the risk of gonadoblastoma, necessitating consideration of prophylactic gonadectomy.

Novel Variation in the External Carotid Artery: Implications for Clinical and Surgical Practice.

The external carotid artery (ECA) is a major branched artery that supplies head and neck structures. An undocumented variation of the ECA was discovered during cadaveric dissection of the anterolateral cervical region, in which a common origin for the ascending pharyngeal, facial, and lingual arteries was identified. In addition, bilateral, duplicate ascending pharyngeal arteries (APAs) were identified at the aforementioned common trunk and the bifurcation of the external and internal carotid arteries. Anatomical knowledge regarding the location of the APA is essential to physicians, as this vessel is a primary supply source for many skull base tumors and vascular lesions. Furthermore, such anatomical knowledge is essential to physicians, as there have been cases of misdiagnosis regarding APA anomalies as an internal carotid artery (ICA) dissection. In this cadaver, both ECAs exhibited typical branching into the superior thyroid artery (STA), occipital artery, posterior auricular artery, maxillary artery, and superficial temporal artery.

Prenatal Clinical Presentation and Genetic Analysis of Partial Trisomy 12: A Case Report.

Trisomy 12 is a rare chromosomal abnormality characterized by the presence of an extra copy of chromosome 12 in some or all cells. This condition can present with a variety of phenotypic manifestations, depending on the extent of mosaicism and the specific genes involved. Prenatal diagnosis of trisomy 12 is challenging due to its variable presentation and potential overlap with other chromosomal abnormalities. This case report describes a 23-year-old woman referred to a Maternal-Fetal Medicine (MFM) clinic following abnormal findings on a routine prenatal ultrasound at 20 weeks' gestation. The ultrasound indicated increased nuchal fold, a pleural effusion, clenched hands, shortened long bones, flat facial features, and clubbed feet. Amniocentesis showed a partial trisomy of distal 12q on the cytogenetic band 12q21.2 to 12q24.33. The patient was advised on the need for close monitoring of fetal growth and development through serial ultrasounds and follow-up visits, with a multidisciplinary approach including genetic counseling. This case underscores the importance of comprehensive prenatal ultrasound screening, prenatal genetic diagnosis, and multidisciplinary management in addressing the varied phenotypic manifestations of trisomy 12.

Novel Variations in the Celiac and Hepatobiliary Arterial Anatomy: A Cadaveric Case Report.

The celiac trunk and hepatobiliary anatomy often display variations in origin and branching patterns. A particularly rare variant involving the cystic artery giving rise to a common trunk for the supraduodenal and an aberrant right gastric artery, with an additional accessory right gastric artery originating from the splenic artery, has not been previously documented. We report a unique variation in the branching pattern of the celiac trunk and the cystic artery revealed during routine dissection of the hepatobiliary region of a male cadaver at Louisiana State University, Health Sciences Center, Shreveport. In this case, the cystic artery originated from the gastroduodenal artery and gave rise to a common trunk of an aberrant right gastric artery and the supraduodenal artery. Additionally, the cadaver lacked a proper hepatic artery, and an additional (accessory) right gastric artery originated from the splenic artery. This report is the first documented instance of such combined variations in the celiac and hepatobiliary arterial anatomy. Recognizing potential variations in these anatomies is crucial for radiological and surgical interventions in the hepatobiliary area to avoid iatrogenic hemorrhage or biliary complications.

Four Tendinous Slips of Flexor Hallucis Longus Tendon: A Case Report.

Interindividual variability presents a rich field of study in medical sciences. During a cadaveric dissection at Louisiana State University Health Sciences Center, a rare anatomical variation was discovered in the pedal anatomy of a female cadaver. Medical students, while dissecting the sole of the foot, identified a variant tendinous structure. This aberrant tendinous slip from the flexor hallucis longus (FHL) extended to the lateral four tendons of flexor digitorum longus (FDL) along the plantar aspect of the foot. The discovery suggested that the FHL shares a functional relationship with the FDL. Application of tension to the FHL was found to result in simultaneous flexion motion in the lesser toes, from the second to the fifth digit. The presence of this anatomical variant holds considerable importance for surgical interventions, especially as a potential graft source in tendon reconstructions, warranting its documentation in this report.

Rates of Laser Trabeculoplasty by Ophthalmologists and Optometrists: A Comparative Analysis of the CMS Medicare Public Use File.

Purpose: To provide a comparative analysis of rates of laser trabeculoplasty (LTP) among eye care providers in the USA. Methods: This retrospective cohort analysis utilized the Centers for Medicare and Medicaid Services (CMS) Public Use File (PUF), 2015-2018. We used CPT code 65855 to select eye care providers who performed LTP in three key US states (KY, LA, and OK). Primary outcomes were eye provider differences in provider count, service count, unique beneficiary count, and Medicare-allowed payments. Asymptotic two-sided chi-squared tests were executed. Statistical significance was achieved at p<0.05. Results: The sum of Medicare-allowed payments for LTP in all three states in 2018 was roughly 26% lower than in 2015. The proportion of Medicare-allowed payments furnished by optometrists increased from 11.3% to 17.9% between 2015 and 2018 (p<0.001). Relative to ophthalmologists, we observed significant increases in optometric Medicare-allowed payments in KY, LA, OK, and the all-inclusive tri-state cohort (all p<0.001). Furthermore, significant optometric increases in number of providers performing LTP (p=0.007), number of unique Medicare beneficiaries seen (p<0.001), and number of LTP services billed (p<0.001) were observed relative to ophthalmologists. Conclusion: The recent expansion of surgical authority by optometrists in key US states is creating a tangible impact on ophthalmologic and optometric practice patterns. The findings of this study may act as provision for policymakers in the context of continually evolving guidelines for optometric surgical expansion.

Anatomical Variant of the Lateral Circumflex Femoral Artery: A Cadaveric Case Report.

The lateral circumflex femoral artery (LCFA), a branch of the deep femoral artery (DFA), supplies the muscular and fascial anatomy of the anterior thigh. An undocumented variation of the LCFA was discovered during a dissection of the lower extremities. The LCFA is a vital vessel that can be used in coronary artery bypass grafts (CABGs) and reconstructive and bypass surgical procedures. On the other hand, the LCFA is susceptible to iatrogenic damage during surgeries involving the hip joint and procedures such as femoral nerve blocks. Knowledge of variations in the origin and course of the LFCA, like many other anatomical structures, is an important concept that physicians and health care providers must be aware of when performing anterior thigh procedures. This case report shows an interesting duplication of the LCFA, the first originating superiorly from the common femoral artery (CFA) and the second from the deep femoral artery (DFA) inferiorly. Both LCFAs exhibited typical trifurcation into ascending, descending, and transverse branches.

A Compilation of Drug Etiologies of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis.

Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are adverse reactions that affect the mucocutaneous surfaces by causing necrosis and detachment of the epidermis. The difference between SJS and TEN is in the percentage of the body surface area (BSA) affected. TEN is known to affect greater BSA than SJS. The pathogenesis of SJS/TEN is attributed to drug-specific cell-mediated cytotoxic reactions that directly and indirectly lead to keratinocyte apoptosis through mediators. Clinical presentation begins with influenza-like symptoms, with the disease affecting the skin, oral, ocular, and urogenital regions most frequently. Although SJS/TEN is mainly due to various drugs, infection and vaccination can also induce SJS/TEN. This review outlines a compilation of all drugs implicated in SJS/TEN cases based on studies, mainly in case reports and other study types. Drug classes implicated in SJS/TEN cases include antibiotics, anticonvulsants, antineoplastics, analgesics, and diuretics, among others. There is no fully established diagnostic modality for SJS/TEN; treatment is done mainly by withdrawing the offending agent. In addition to withdrawing the offending agent, a multidisciplinary care team is essential in managing these patients. Several pharmacologic modalities have also been proposed in treatment, but there is still insufficient evidence for the efficacy of one against the other.

An Introduction and Brief Overview of Psychoanalysis.

The field of psychology has been shaped by the views and perspectives of Sigmund Freud and his former students: Carl Jung, Alfred Adler, Erik Erikson, and Karen Horney. These psychologists and their respective schools of thought provide distinct views on psychology and influences on personality and psychosocial development. The foundation for psychoanalysis was laid by Freud, his work on the unconscious mind, and his emphasis on early childhood experiences. His students also made substantial contributions that expanded, sharpened, and challenged his theories. This review will begin by highlighting the work of Sigmund Freud; it will then compare his theories with the theories of his students. This review will introduce and bring attention to the most important figures of psychoanalysis and give a brief overview of their theories.

Illuminating Hope for Mental Health: A Drug Review on Lumateperone.

This drug review provides a comprehensive analysis of a novel antipsychotic called lumateperone, marketed as Caplyta. Lumateperone gained FDA approval in 2019 for treating schizophrenia and later, in 2021, for treating bipolar depression. The review begins by delving into lumateperone's mechanism of action, which involves the partial agonism of the dopamine D2 receptor as well as its unique effects on the dopamine transporter, N-methyl-D-aspartate (NMDA) receptor, and serotonin transporter. Additionally, the study examines lumateperone's distinctive pharmacokinetics. Moreover, this review assesses lumateperone's metabolic profile and highlights its favorable outcomes regarding mean body weight, BMI, and waist circumference, surpassing those of other second-generation antipsychotic medications. The study explicitly emphasizes the efficacy and safety of lumateperone in treating schizophrenia and bipolar depression associated with bipolar I and II disorders. An extensive investigation of multiple clinical trials provides compelling evidence of lumateperone's advantages over existing antipsychotic medications. The review also acknowledges the limitations of lumateperone compared to other antipsychotics. In conclusion, this drug review underscores the importance of further research to uncover the additional limitations of lumateperone while acknowledging its promising benefits and potential for advancing treatment options.

Exosomes as biomarkers and therapy in type 2 diabetes mellitus and associated complications.

Type 2 diabetes mellitus (T2DM) is one of the most prevalent metabolic disorders worldwide. However, T2DM still remains underdiagnosed and undertreated resulting in poor quality of life and increased morbidity and mortality. Given this ongoing burden, researchers have attempted to locate new therapeutic targets as well as methodologies to identify the disease and its associated complications at an earlier stage. Several studies over the last few decades have identified exosomes, small extracellular vesicles that are released by cells, as pivotal contributors to the pathogenesis of T2DM and its complications. These discoveries suggest the possibility of novel detection and treatment methods. This review provides a comprehensive presentation of exosomes that hold potential as novel biomarkers and therapeutic targets. Additional focus is given to characterizing the role of exosomes in T2DM complications, including diabetic angiopathy, diabetic cardiomyopathy, diabetic nephropathy, diabetic peripheral neuropathy, diabetic retinopathy, and diabetic wound healing. This study reveals that the utilization of exosomes as diagnostic markers and therapies is a realistic possibility for both T2DM and its complications. However, the majority of the current research is limited to animal models, warranting further investigation of exosomes in clinical trials. This review represents the most extensive and up-to-date exploration of exosomes in relation to T2DM and its complications.

Hyperostosis Fronto-Parieto-Occipitalis: A Cadaveric Case Report.

Hyperostosis of the skull is a rare bone dysplasia described in disorders such as hyperostosis cranialis interna (HCI) and hyperostosis frontalis interna (HFI). Other syndromes presenting with hyperostosis include Morgagni-Stewart-Morel (MSM) and Troell-Junet. HCI is an abnormal hyperostosis of most endosteal skull and calvarium surface regions. A more specific hyperostosis, HFI, is an unusual bone growth based on its volume and porosity; it is primarily located bilaterally on the frontal portions of the calvarium. However, the hyperossification does not cross the superior sagittal sinus. Upon cadaveric dissection, we found hyperossification beyond the frontal area, extending to the parietal and occipital bones with the significant characteristic of no midline interference. Hyperossification results in gross indentations on the corresponding frontal, parietal, and occipital hemispheric brain tissues. This report discusses possible differentials for this rare cadaveric finding of frontal, parietal, and occipital bone hyperostosis. This case report includes some major characteristic features indicative of HCI and HFI with some interesting variations and features suggestive of MSM and Troell-Junet syndromes. Due to the lack of patient history and medical records, no further conclusions about clinical differentials, symptoms, or causative syndromes could be drawn; further research needs to be conducted on HCI, HFI, and related syndromes to understand their presentations better.

Cariprazine for Treating Schizophrenia, Mania, Bipolar Depression, and Unipolar Depression: A Review of Its Efficacy.

This drug review presents a comprehensive review of Cariprazine, a medication that received FDA approval in 2015 for treating schizophrenia and bipolar disorder. The paper begins by exploring Cariprazine's mechanism of action, which involves modulating dopamine and serotonin receptors. Additionally, the review assesses Cariprazine's metabolic profile and notes its low potential for weight gain and metabolic side effects. The study examines Cariprazine's efficacy and safety in treating various psychiatric disorders, such as schizophrenia, bipolar maintenance, mania, and bipolar depression. A meticulous analysis of clinical trials is included, demonstrating Cariprazine's potential advantages over existing medications used for these disorders. Additionally, the review covers Cariprazine's recent approval as an adjuvant treatment for unipolar depression. Furthermore, the paper examines the limitations of Cariprazine, such as the absence of head-to-head trials comparing it to other commonly used medications for these disorders. The paper concludes by emphasizing the need for more research to establish Cariprazine's position in treating schizophrenia and bipolar disorder and determine its comparative effectiveness with other available treatments.

An Integrated Review of Carpal Tunnel Syndrome: New Insights to an Old Problem.

Carpal tunnel syndrome (CTS) is a common entrapment neuropathy characterized by pain, numbness, and impaired function of the hand due to compression of the median nerve at the level of the wrist. Although CTS can develop from repetitive strain, injury, or medical conditions, there are also congenital and genetic risk factors that can predispose individuals to the condition. With respect to anatomical factors, some individuals are born with a smaller carpal tunnel, which increases their susceptibility to median nerve compression. Variations in specific genes, such as those encoding proteins involved in extracellular matrix remodeling, inflammation, and nerve function, have also been linked to an increased risk for CTS. CTS is associated with a high cost of health care maintenance and loss of work productivity. Therefore, it is vital that primary care physicians fully understand the anatomy, epidemiology, pathophysiology, etiology, and risk factors of CTS, so they can be proactive in prevention, diagnosing, and guiding proper treatment. This integrated review also provides insights into how biological, genetic, environmental, and occupational factors interact with structural elements to determine who is most likely to acquire and suffer from CTS. Keeping health practitioners abreast of all the factors that could impact CTS should go a long way in decreasing the health care and socioeconomic burden of CTS.

A Unique Three-Tendinous Head Reverse Palmaris Longus: A Case Report.

The Palmaris longus (PL) is a fusiform muscle that is part of the superficial flexors on the anterior compartment of the forearm. It originates from the common flexor tendon at the medial epicondyle of the humerus and inserts at the flexor retinaculum. The Palmaris longus has been reported to present in multiple variations. Some of these variations include agenesis, reversal, and multiple bellies of the muscle. The Palmaris longus is clinically significant as a landmark for carpal tunnel syndrome steroid injection, hand anesthesia, and used as a surgical graft. Medical students at the University of Medicine and Health Sciences, St. Kitts and Nevis, encountered a unique variation of the PL during cadaver dissection. This article explores the exclusiveness of a three-tendinous head reverse PL and what makes it unique compared to similar findings in other reports.

Lurasidone for Treating Schizophrenia and Bipolar Depression: A Review of Its Efficacy.

Lurasidone is an antipsychotic medication that blocks dopamine D2 and serotonin 5-hydroxy-tryptamine (5-HT)2A receptors and affects other serotoninergic and noradrenergic receptors. It has rapid absorption and linear pharmacokinetics. The rates of metabolic syndrome for patients taking lurasidone are comparable to placebo groups. Lurasidone is a safe and effective treatment for patients with acute schizophrenia and bipolar depression. It has been found to improve the brief psychiatric rating scale and other secondary measures in schizophrenic patients and reduce depressive symptoms in bipolar I depression. The once-daily administration of lurasidone is generally well-tolerated and does not cause clinically significant differences in extrapyramidal symptoms, adverse effects, or weight gain compared to a placebo. However, lurasidone's effectiveness in combination with lithium or valproate has been mixed. Further research is needed to determine optimal dosing, treatment duration, and combination with other mood stabilizers. Long-term safety and effectiveness and its use in different subpopulations should also be evaluated.

De Quervain's Disease: A Discourse on Etiology, Diagnosis, and Treatment.

Since Fritz De Quervain first postulated stenosing tenosynovitis within the radial dorsum of the wrist, much research has been conducted to provide further insights. De Quervain's Disease (DQD) is a condition that affects the tendons that control the movement of the thumb, specifically the abductor pollicis longus and extensor pollicis brevis. Numerous studies have shown that structural divergence from normal anatomy is partly related to contingency for developing DQD. Even though this condition was discovered many years ago, its exact etiology remains a subject of debate. Two schools of thought exist, one that contends an inflammatory-mediated pathway and the other degenerative changes. Substantial evidence exists for both theories, thus necessitating further studies into the etiology of DQD. Classically, Finkelstein's and Eichhoff's tests have been used as the physical examinations of choice for clinically diagnosing this condition. However, these tests have been shown to have low specificity, hence, the emergence of the wrist hyperflexion and abduction of the thumb test. Evidence also suggests that ultrasonography may become a critical diagnostic tool, especially to identify anatomical variations before invasive treatment, reducing the risk of further complications. The management of DQD is typically conservative, with escalation to steroid injections before surgery is indicated. Future research into this disease should focus on establishing a clearer picture of how anatomical variations and other pathological and occupational factors may interplay to bring about this condition. While current research has suggested possible novel approaches for diagnosing and treating DQD, more studies are required to gain greater insights into the effectiveness of these interventions.