Specific Etiology Research Articles

An Ayurvedic Approach to Inner Ear Diseases

Ear is one among the sense organs, which keeps one connected to other and with the surroundings. Ear functions the conversion of sound waves into electrochemical impulses and maintains the sense of balance. In the present era, increased technology has resulted in change in lifestyle like increased use of ear phones or headsets, excessive use of mobile phones, exposure to loud noise, and modern pub culture etc which has made the ears more sensitive to many problems. This can be either hearing disorders or tinnitus or vertigo which can have an adverse effect on our lives, which remains the most challenging to treat in contemporary science. Ayurveda gives detailed explanation regarding ear diseases, where in it covers all the diseases pertaining to external as well as internal ear. Therefore, while looking into the classification of these diseases, no such explanation is given separately for Abhyantara karna rogas, but a special attention is given for the explanation of ear lobe diseases (Karna pali rogas). In this article an effort is made to understand these major inner ear problems with those of ear disorders explained in ayurveda with their specific etiology, clinical features and the management with respect to the contemporary science

Long-segment spinal cord infarction complicated with multiple cerebral infarctions: a case report

BackgroundSpinal cord infarction is a rare disorder, constituting only 1% to 2% of all neurological vascular emergencies (making it less frequent than ischaemic brain injury); however, it is severe. A case of long-segment spinal cord infarction complicated with multiple cerebral infarctions has not been reported to date.Case presentationHere, we describe one such case: a patient with spinal cord infarction from the cervical 7 (C7) to thoracic 6 (T6) vertebrae, along with anterior spinal artery syndrome and complicated by multiple cerebral infarctions. A 65-year-old farmer experienced sudden onset of severe pain in his chest, back and upper limbs while unloading heavy objects. Subsequently, both his lower limbs became weak and hypoaesthetic, and he was unable to walk. Spinal magnetic resonance imaging (MRI) revealed equal T1 and long T2 signals centred on the anterior horn of the spinal cord. The axial slice of these signals was shaped like an owl’s eye. After receiving drug treatment and active rehabilitation treatment, the patient’s ability to walk was restored.ConclusionsLong-segment spinal cord infarction is rare and can be complicated with cerebral infarction. The specific aetiology is worth exploring.

Clinical report: Chronic liver dysfunction in an individual with an AMOTL1 variant

AMOTL1 is a member of the Motin protein family and localizes to tight junctions and is involved in cell polarity and paracellular permeability. Pathological variants have been reported in three patients from two separate families in recent years. The clinical spectrum includes cleft lip and palate along with a high incidence of congenital cardiac disease and ear malformations. We report a case of AMOTL1 pathogenic variant in a 11-year-old male patient with nonspecific and chronic liver dysfunction accompanied by persistently elevated liver enzymes since early infancy. Liver biopsy at 8 years of age revealed a mildly dilated central vein and sinusoid with no specific etiology. Liver dysfunction is not a known clinical feature of AMOTL1 malfunction. However, given that the protein is known to be involved in angiogenesis, it may be inferred that abnormalities in this process may lead to liver dysfunction. This is the first report of liver dysfunction identified in a patient with AMOTL1 malfunction, which will shed light on other putative functions of the protein.

Etiology and evaluation of stillbirth in patients with obesity

Objective Maternal obesity is a risk factor for stillbirth, but whether or not the etiology of stillbirth differs in gravidas with and without obesity is unknown. We categorized stillbirths in a contemporary cohort to test the hypothesis that the etiology of stillbirth is different in gravidas with and without obesity. Methods This retrospective cohort study included all gravidas with a stillbirth ≥20 weeks’ gestation between 2010 and 2017 and a normal mid-trimester anatomic survey by ultrasound assessment at a large academic institution. Pregnancies were excluded if delivery data were unavailable, a multifetal gestation was present, or there was an antenatally diagnosed fetal structural or genetic anomaly. Our primary exposure was maternal obesity, defined as a body mass index (BMI) ≥ 30 kg/m2 at the time of anatomic survey. Our primary outcome was stillbirth etiology, as classified by the initial causes of fetal death tool from the Stillbirth Collaborative Research Network and includes maternal, obstetric, hematologic, fetal, infectious, placental, other, or unexplained categories. Our secondary outcomes included the evaluation performed on each stillbirth, compliance with the recommended stillbirth evaluation by the American College of Obstetricians and Gynecologists (ACOG), and the percentage of abnormal results for each of the tests ordered for stillbirth evaluation. Results Of 118 stillbirths meeting the inclusion criteria, 44 (37.3%) occurred in gravidas with obesity and 74 (62.7%) were in patients without obesity. An obstetric complication was the most commonly identified etiology for stillbirth, found in 40.9% of cases with obesity versus in 29.7% of cases without obesity (aOR 1.09, 95% CI 0.47–2.66). The likelihood of any specific etiology of stillbirth was not significantly different in gravidas of the two weight groups, after controlling for confounders. However, assignment to the unexplained stillbirth category was significantly less common in women with obesity, compared to those without obesity (aOR 0.18, 95% CI 0.05–0.67). There was no difference in testing performed on each stillbirth between the groups. Compliance with the ACOG-recommended diagnostic evaluation for stillbirth was similar in the two groups but was only performed in 10.2% of all cases of stillbirth. Placental pathology was the test most likely to yield an abnormal result in both groups, but the percentage of abnormal results for this and all other tests was the same in the presence and absence of obesity. Conclusion There is no specific etiology of stillbirth seen in gravidas with obesity, compared to those without obesity, after controlling for maternal confounders. We surmise that the evaluation recommended for stillbirth assessment in the general population is appropriate for stillbirth evaluation in gravidas with obesity. Testing pursued was similar between groups, but compliance with ACOG recommendations for testing after stillbirth was deficient in the cohort. Future work should aim to identify and address barriers to completing the recommended stillbirth evaluation.

A case of neck pain in emergency department

Neck pain is a common presentation to the emergency department (ED) and a prominent source of disability in the adult population, accounting for about 10–20% of the population. Neck pain can be challenging for ED clinicians to accurately diagnose and manage. The vital role of ED remains in diagnosing the musculoskeletal red flag conditions such as cervical spine fractures or dislocations, radiculopathies, and disk disruptions. However, most non-traumatic causes of neck pain do not have a specific pathoanatomical etiology that can be identified on imaging to identify the cause of pain in the absence of red flags signs. In this article, we would like to discuss one such case, wherein our patient, a 49-year-old gentleman presented to our ED with neck pain which rapidly progressed to quadri paresis within a short duration of ED stay and the diagnostic hurdles faced and the outcome of the patient.

Interstitial lung disease with genetic susceptibility: case report

Abstract Introduction Interstitial lung disease (ILD) includes more than 200 progressive conditions classified based on common clinical, imaging or pathophysiological factors. Case presentation A 37-year-old male, former smoker, with unknown exposure and a family history of incompletely identified ILD, underwent functional and imaging investigations that raise the suspicion of an ILD with a pattern of non-specific interstitial pneumonia (NSIP). High-resolution computer tomography (HRCT) imaging detects the progression of lesions. The severely altered functional status does not allow a lung biopsy to be performed to elucidate the aetiology and establish the optimal therapeutic approach. Bronchoscopy with bronchial aspirate sampling and bronchoalveolar lavage does not suggest a specific ILD aetiology. A diagnosis of diffuse fibrosing and progressive ILD – an unclassifiable phenotype – was established, and after a multidisciplinary discussion, antifibrotic treatment was initiated. A genetic test was performed for a possible familial ILD with a genetic component. The test identified the presence of an autosomal recessive combined immunodeficiency due to NF-κB inducing kinase (NIK) deficiency associated with the MAP3K14 gene leading to the suspicion of a familial ILD. Discussion Genetic testing is essential for diagnosis of ILD, especially in young patients with a family history. Antifibrotics are the only available option for such cases; if immunosuppressive therapy should be initiated still remains a question. Is a lung transplant a realistic solution in such cases? Conclusions Familial aggregation and genetic changes should be sought for in diffuse ILD diagnosis.

Optic perineuritis.

This review paper aims at discussing pathogenesis, etiology, clinical features, management, and prognosis of OPN. Optic perineuritis (OPN) is an inflammatory process primarily involving the optic nerve sheath. Clinically, OPN usually presents with unilateral, gradual decline of visual function, eye pain, and/or pain on eye movements, disc edema and various features of optic nerve dysfunction, including visual field defects. It can mimic typical optic neuritis. In most cases of OPN, the disease is isolated with no specific etiology being identified, however, it can also occur secondary to a wide range of underlying systemic diseases. OPN is clinically diagnosed and radiologically confirmed based on the finding of circumferential perineural enhancement of the optic nerve sheath on magnetic resonance imaging (MRI). Unlike optic nerve, OPN is not typically self-limited without treatment. High-dose oral corticosteroids are the mainstay of treatment in OPN. The initiation of therapy usually causes rapid and dramatic improvement in signs and symptoms. In general, OPN usually has a relatively good visual prognosis, which is influenced by delays between the onset of visual loss and the initiation of steroid therapy as well as the presence of underlying systemic diseases.

Deep learning radiomics of dual-modality ultrasound images for hierarchical diagnosis of unexplained cervical lymphadenopathy

BackgroundAccurate diagnosis of unexplained cervical lymphadenopathy (CLA) using medical images heavily relies on the experience of radiologists, which is even worse for CLA patients in underdeveloped countries and regions, because of lack of expertise and reliable medical history. This study aimed to develop a deep learning (DL) radiomics model based on B-mode and color Doppler ultrasound images for assisting radiologists to improve their diagnoses of the etiology of unexplained CLA.MethodsPatients with unexplained CLA who received ultrasound examinations from three hospitals located in underdeveloped areas of China were retrospectively enrolled. They were all pathologically confirmed with reactive hyperplasia, tuberculous lymphadenitis, lymphoma, or metastatic carcinoma. By mimicking the diagnosis logic of radiologists, three DL sub-models were developed to achieve the primary diagnosis of benign and malignant, the secondary diagnosis of reactive hyperplasia and tuberculous lymphadenitis in benign candidates, and of lymphoma and metastatic carcinoma in malignant candidates, respectively. Then, a CLA hierarchical diagnostic model (CLA-HDM) integrating all sub-models was proposed to classify the specific etiology of each unexplained CLA. The assistant effectiveness of CLA-HDM was assessed by comparing six radiologists between without and with using the DL-based classification and heatmap guidance.ResultsA total of 763 patients with unexplained CLA were enrolled and were split into the training cohort (n=395), internal testing cohort (n=171), and external testing cohorts 1 (n=105) and 2 (n=92). The CLA-HDM for diagnosing four common etiologies of unexplained CLA achieved AUCs of 0.873 (95% CI: 0.838–0.908), 0.837 (95% CI: 0.789–0.889), and 0.840 (95% CI: 0.789–0.898) in the three testing cohorts, respectively, which was systematically more accurate than all the participating radiologists. With its assistance, the accuracy, sensitivity, and specificity of six radiologists with different levels of experience were generally improved, reducing the false-negative rate of 2.2–10% and the false-positive rate of 0.7–3.1%.ConclusionsMulti-cohort testing demonstrated our DL model integrating dual-modality ultrasound images achieved accurate diagnosis of unexplained CLA. With its assistance, the gap between radiologists with different levels of experience was narrowed, which is potentially of great significance for benefiting CLA patients in underdeveloped countries and regions worldwide.

Coronary functional assessment in non-obstructive coronary artery disease: Present situation and future direction.

Non-obstructive coronary artery disease (CAD), which is defined as coronary stenosis <50%, has been increasingly recognized as an emerging entity in clinical practice. Vasomotion abnormality and coronary microvascular dysfunction are two major mechanisms contributing to the occur of angina with non-obstructive CAD. Although routine coronary functional assessment is limited due to several disadvantages, functional evaluation can help to understand the pathophysiological mechanism and/or to exclude specific etiologies. In this review, we summarized the potential mechanisms involved in ischemia with non-obstructive coronary arteries (INOCA) and myocardial infarction with non-obstructive coronary arteries (MINOCA), the two major form of non-obstructive CAD. Additionally, we reviewed currently available functional assessment indices and their use in non-obstructive CAD. Furthermore, we speculated that novel technique combined anatomic and physiologic parameters might provide more individualized therapeutic choice for patients with non-obstructive CAD.

Clinical characteristics of patients with COVID-19 vaccine-related pneumonitis: a case series and literature review.

Background/AimsPulmonary toxicities of coronavirus disease 2019 (COVID-19) vaccination are exceedingly rare. However, there are a few reported cases after mRNA vaccination, especially from Asian countries. The purpose of this study was to report the clinical characteristics of patients with COVID-19 vaccine-related pneumonitis (CV-P) and to review cases reported in the literature.MethodsWe performed a prospective, observational case series analysis.ResultsEleven patients with a median age of 80 years were enrolled. Ten patients developed CV-P after BNT162b2-mRNA vaccination and one after ChAdOx1 nCoV-19 vaccination. We identified various patterns of CV-P, including transient infiltration, life-threatening acute respiratory distress syndrome, and aggravation of underlying interstitial lung disease. Most patients showed favorable outcomes with good responses to corticosteroid therapy.ConclusionsIdentifying the mechanism of CV-P requires further investigation; however, radiological and laboratory findings in our case series support inflammatory dysregulation in the lung parenchyma after vaccination. Clinicians should consider CV-P in patients with atypical lung infiltration, no specific etiologies, and recent COVID-19 vaccination.

Sickle cell disease and the incidence and etiology of preterm birth

Medically indicated delivery can be defined as delivery owing to intervention for maternal or fetal well-being-most commonly because of preeclampsia or nonreassuring fetal status. Among the general population of the United States, approximately two-thirds of preterm deliveries are because of spontaneous labor and/or premature rupture of membranes, whereas the remaining one-third are medically indicated. Despite the increased risk of preterm birth among women with sickle cell disease, the specific etiologies have not been described in the medical literature. Without an understanding of the etiologies of preterm birth in women with sickle cell disease, it is difficult to develop preventative strategies. This study aimed to estimate the incidence and etiologies of preterm births (spontaneous vs medically indicated) in women with sickle cell disease. This was a retrospective, institutional review board-exempt cohort study of deliveries at >20 weeks' gestation in women with sickle cell disease at Duke University Hospital (2013-2020). We screened pregnancy-linked hospitalizations with International Classification of Diseases-9/10 codes for sickle cell disease (n=373). We excluded cases of pregnancy with <20 weeks' gestation, multiple gestation, or unproven sickle cell disease. We limited inclusion to deliveries within Duke (n=66). We compared the proportion of preterm birth cases between the sickle cell disease cohort and the overall Duke population (n=18,365), and the proportion of spontaneous vs medically indicated preterm births between the sickle cell disease cohort and a racially matched US population. Of the 66 pregnancies, 65 occurred in patients who self-described as Black (98.5%). There were 60.6% (n=40) term and 39.4% (n=26) preterm births vs 85.9% term (n=15,771) and 14.1% preterm (n=2594) births in the Duke population as a whole. The sickle cell disease cohort was nearly 3 times more likely to deliver preterm than the Duke cohort (risk ratio, 2.79; 95% confidence interval, 2.06-3.77; P<.001). Among the 26 preterm births in the sickle cell disease cohort, 30.8% (n=8) were spontaneous and 69.2% (n=18) were medically indicated. In the US Black population comparison cohort, 65.4% (n=392,984) of preterm births were spontaneous and 34.6% (n=207,614) were medically indicated. The sickle cell disease cohort had 2 times the risk of medically indicated preterm birth compared with the US population cohort (risk ratio, 2.00; 95% confidence interval, 1.55-2.59; P<.001). Maternal sickle cell disease confers nearly triple the risk of preterm birth, which is twice as likely to be medically indicated.

P99. Are two-year reoperation rates different for circumferential minimally invasive surgery (cMIS) vs open ASD surgery? A propensity matched cohort study using a prospective ASD database

<h3>BACKGROUND CONTEXT</h3> As surgical techniques for deformity correction evolve towards minimizing tissue trauma, further clarity is warranted to define differences in complication profiles between cMIS and open surgeries. <h3>PURPOSE</h3> To compare cMIS and open surgery reoperation rates and identify contributing etiologies to reoperation in each cohort. <h3>STUDY DESIGN/SETTING</h3> Prospective multicenter observational series. <h3>PATIENT SAMPLE</h3> Database enrollment required age=18 years, adult spinal deformity and circumferential minimally invasive spine surgery. <h3>OUTCOME MEASURES</h3> Reoperation rate, patient reported outcomes (PROMS), spinopelvic parameters, mechanical failures (defined as rod breakage/dislocation, screw breakage/loosening, set screw loosening, proximal/distal junctional kyphosis, pseudoarthrosis) and other factors contributing to re-operation such as wound infection, medial breach, nerve impingement by screw, vertebral body fracture, sagittal/coronal imbalance, and wound infection. <h3>METHODS</h3> A total of 85 patients (pts) with cMIS for ASD with 2-year follow-up (2YFU) were identified and propensity matched to 85 patients in open cohort. Propensity matching was performed based on pre-operative PT, PI-LL, BMI, and SVA. Patient demographic variables, reoperation rate, and complications contributing to reoperation were compared with uni- and multi-variate analysis at any time in each cohort (33 open, 17 cMIS). PROMS at 2YFU were compared in the reoperated cohorts. <h3>RESULTS</h3> Total of 33 reoperation in the open cohort vs 17 in cMIS were identified. The reoperation rate was significantly higher in the open cohort at 39% (33/85) compared to 20% (17/85) in the cMIS cohort (P= 0.012). The reoperation rate in open cohort related to mechanical failure was 52% (17/33) compared to 35% (6/17) in cMIS cohort (P= 0.43). No significant difference was found in rates of specific etiologies contributing to complications in the cMIS vs open reoperation cohorts under uni- and multivariate analysis. The change in spinopelvic parameters among the two reoperation cohorts at 2YFU were statistically not significant (δCVA, δSVA, δPI-LL, δPT, δLL CA, δTL CA). Under univariate analysis, the following PROMS were similar: ODI, NRS Leg and Back Pain, EQ5D, EQ5D-VAS, SF-36 PCS,SF-36 MCS. However, SRS-22 in open cohort was significantly higher at 2YFU (3.55 ± 0.73 open vs. 3,10 ± 0.56 MIS, p = 0.029). <h3>CONCLUSIONS</h3> Findings in our ongoing study show that cMIS procedures were associated with a significantly lower reoperation rate compared to open surgical approaches. PROMS and the change in spinopelvic parameters were similar at 2YFU in both reoperated cohorts (except for SRS-22 favored open cohort). <h3>FDA DEVICE/DRUG STATUS</h3> This abstract does not discuss or include any applicable devices or drugs.

The burden of liver cirrhosis in mortality: Results from the global burden of disease study.

BackgroundLiver cirrhosis-related death is a serious threat worldwide. The number of studies exploring the mortality trend of cirrhosis caused by specific etiologies was limited. This study aimed to demonstrate the pattern and trend based on the data of global burden of disease (GBD).MethodsThe data of cirrhosis mortality were collected from the GBD 2017. The Age standardized mortality rate (ASR) and estimated annual percentage changes (EAPC) were used to estimate the temporal trend of liver cirrhosis mortality by etiologies, regions, sociodemographic index (SDI), and sexes.ResultsGlobally, mortality cases of cirrhosis increased by 47.15%. Although the global ASR of cirrhosis mortality remained stable during this period, the temporal trend varied in etiologies. The ASR of mortality caused by hepatitis C virus (HCV), alcohol consumption, and non-alcoholic steatohepatitis (NASH) increased with an EAPC of 0.17 (95% CI, 0.14–0.20), 0.20 (95% CI, 0.16–0.24), 1.00 (95% CI, 0.97–1.04), respectively. A decreasing trend of ASR was found among the causes of hepatitis B virus (BV) and other causes. The increased pattern was heterogeneous worldwide. The most pronounced increase trend was found in middle-high SDI regions and Eastern Europe. Contrarily, the most pronounced decrease trend was found in low SDI regions and Western Sub-Saharan Africa.ConclusionCirrhosis is still a public health problem. The growth trend of cirrhosis mortality caused by HCV was slowed by promoting direct-acting antiviral therapy. Unfortunately, we observed an unfavorable trend in etiologies for alcohol consumption and NASH, which indicated that more targeted and specific strategies should be established to limit alcohol consumption and promote healthy lifestyles in high-risk countries, especially in middle-high SDI regions and Eastern Europe.

Etiopathogenesis behind Semicircular Canal Dehiscence Syndrome: Review Article

AbstractSemicircular canal dehiscence remains one of the rare and least touched chronic vestibular diseases worldwide. Even though microbial, congenital, and genetically determined, as well as mixed characteristics are known to be involved in the pathogenesis of superior semicircular canal dehiscence syndrome (SSCDS), many facets of the pathogenesis of semicircular canal dehiscence syndrome still need to be simplified. Management plan related to pathogenesis has not yet been established. The primary objective of this review is to present and evaluate the etiopathogenesis behind SSCDS. This study is a systematic narrative review. A PubMed search (1970–2022) was performed for studies on epidemiology and pathogenesis of SSCDS. All included articles were categorized according to level of evidence. Five hundred and sixty papers were identified, of which 25 were found to be relevant for this review. SSCDS is a multifactorial disease. There is still no consensus as to what the specific etiology is behind the syndrome. No convincing evidence is available for most associated factors and pathogenesis. Important objectives in research of SSCDS should be achieving consensus about the definition of SSCDS and gaining more in-depth knowledge of the pathogenesis of SSCDS, especially the role of congenital and acquired causes. There is still a need for further well-designed studies on the various etiopathogenesis and management of SSCDS.

Treatment of enterocutaneous fistula: a systematic review and meta-analysis.

Enterocutaneous fistula (ECF) is an abnormal communication between the gastrointestinal tract and skin, with a myriad of etiologies and therapeutic options. Management is influenced by etiology and specifics of the ECF, and patient-related factors. The aim of this study was to assess overall success, recurrence, and mortality rates of treatment for ECF. A systematic search of PubMed and Google Scholar was performed through October 2021 according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Case reports, reviews, animal studies, studies not reporting outcomes, had no available English text, included patients < 16years old or those assessing other abdominocutaneous/internal fistulas were excluded. Fifty-three studies, between 1975 and 2020, incorporating 3078 patients were included. Patient age ranged between 16 and 87years with a male:female ratio of 1.14:1. ECF developed postoperatively in 89.4%. Other common etiologies were inflammatory bowel disease, trauma, malignancy, and radiation. At least 28% of patients had complex fistulae (reported in 18 studies). Most common fistula site was small bowel. In 34 publications, 62.4% (n = 1371) patients received parenteral nutrition. In 45 publications, 72.5% underwent surgery to treat the fistula. Meta-analysis revealed an 89% healing rate; recurrence rate after initial successful treatment was 11.1%, and mortality rate was 8.5%. In a subgroup of patients who underwent combined ECF takedown and abdominal wall reconstructions (n = 315), 78% achieved fascial closure, mesh was used in 72%, hernia, and fistula recurrence rates were 19.7% and 7.6%, respectively. Treatment of ECF must be individualized according to specific etiology and location of the fistula and the patient's associated conditions.

A rare incidence of primary Synovial Spindle Cell Sarcoma in a 46-year-old male, successfully managed by surgical intervention-A Case Report.

Introduction and importanceSynovial sarcoma (SS) is a rare form of Soft Tissue Sarcoma (STS) which results from the malignant proliferation of mesenchymal cells. Specific etiologies are not yet known, and its incidence rate ranges between 0.81 and 1.42 per 1 million individuals. Its gender-specific prevalence is almost the same between males and females and it is unique from other subtypes of STS in that it's slow growing and in almost half the cases, patients present with distant metastasis at the time of diagnosis.Case presentationWe present the case of a 46-year-old previously healthy male patient, who complained from a right lower extremity painless bulge, which began to be visibly noticeable by the patient 2 months prior to admission. There were no signs of allocated inflammation nor lower limb ischemia. Radiology revealed an irregular mass formation conformant with neoplasia.Clinical discussionSurgical resection of the mass along with synthetic graft replacement of the concomitant vascular bundle. Histopathological analysis of the resected mass revealed a monophasic synovial spindle cell sarcoma.ConclusionSS is a rare neoplasm poses a grave risk for patients due to its malignant pathophysiology and the wide margin of misdiagnoses. It is pivotal to set-up proper preoperative diagnostic guidelines for it and maintain high clinical suspicion so that we can bring down the high rates of the morbidity and mortality which ensue from this malignancy.

602 An in vitro psoriasis model for high throughput screening

Psoriasis is a common inflammatory dermatosis, affecting up to 3% of the US population. It presents with thick erythematous papules and plaques, characterized by abundant scaling, occasional itch and a variable pattern of distribution. Psoriasis is a multifactorial disease with a strong genetic component and is associated with Th1/Th17 skewing, but the specific etiology is unknown. Notably, psoriasis does not occur spontaneously in small mammals, which makes the development of new and effective drugs a challenging process.

Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress.

The genetic basis of many epilepsies is increasingly understood, giving rise to the possibility of precision treatments tailored to specific genetic etiologies. Despite this, current medical therapy for most epilepsies remains imprecise, aimed primarily at empirical seizure reduction rather than targeting specific disease processes. Intellectual and technological leaps in diagnosis over the past 10 years have not yet translated to routine changes in clinical practice. However, the epilepsy community is poised to make impressive gains in precision therapy, with continued innovation in gene discovery, diagnostic ability, and bioinformatics; increased access to genetic testing and counseling; fuller understanding of natural histories; agility and rigor in preclinical research, including strategic use of emerging model systems; and engagement of an evolving group of stakeholders (including patient advocates, governmental resources, and clinicians and scientists in academia and industry). In each of these areas, we highlight notable examples of recent progress, new or persistent challenges, and future directions. The future of precision medicine for genetic epilepsy looks bright if key opportunities on the horizon can be pursued with strategic and coordinated effort.

Ayurvedic Perspective of Recurrent Pregnancy Loss

Recurrent Pregnancy Loss (RPL) is defined as two or more failed clinical pregnancies confirmed by sonography or histopathology. In majority of patients the etiology cannot be clearly defined, so it is one of the arduous and composite area in the medical field for both doctors and patients to handle. The etiology of Recurrent Pregnancy Loss can be broadly included under genetic, endocrine, anatomic, environmental and immunological factors. As this is a multifactorial entity and is difficult to pinpoint a specific etiology or pathology in majority of cases, a thorough and detailed history taking along with necessary investigations have to be done. Treatment mainly aims in rectifying the cause and psychological support together with counselling in couples with unknown causes will improve the outcome. In Ayurveda Recurrent Pregnancy Loss can be correlated with Garbhasravi vandhya mentioned in Hareetha samhitha and Puthraghni yonivyapth explained in Brhathtrayees based on the clinical features. Ayurveda advises to do Sodhana therapy (purificatory procedures) ending with Uthara vasti in Recurrent miscarriage cases especially with unknown etiology. Acarya Hareetha and Acarya Caraka explained Garbhasravi vandhya and Puthragni yonivapath respectively as loss of pregnancy occurring in first trimester. Susruta says that in this condition, the foetuses after attaining stability are repeatedly destroyed due to bleeding which indicates second trimester abortions. On conclusion both Garbhasravi vandhya and Puthraghni yonivyapath can be considered as Recurrent Pregnancy loss explained in modern science.

Bilateral yellow plaques on the upper eyelids

Bilateral yellow plaques on the upper eyelids