Acidente crotálico seguido por primeiro episódio psicótico: um folclore clínico / Rattlesnake bite accident followed by first psychotic episode: a clinical folklore / Accidente crotálico seguido de primer episodio psicótico: un folclore clínico

Introdução: Acidentes ofídicos são doenças negligenciadas e constituem uma parcela importante da morbidade de pessoas em idade produtiva que vivem em zonas rurais. A maior parte dos seus efeitos a curto prazo é amplamente conhecida, especialmente aqueles de natureza clínica; no entanto, ainda se observa lacuna importante do conhecimento das consequências a longo prazo de tais agravos, notadamente as de ordem psíquica. Este artigo relata um caso de adoecimento mental subsequente a um acidente crotálico e gera reflexões de âmbito cultural e fisiopatológico a respeito das sequelas de tais eventos. Apresentação do caso: Trata-se de adolescente residente no interior baiano que foi vítima de mordedura por cascavel e teve necessidade de hospitalização em unidade de terapia intensiva. Observou-se que, mesmo após melhora clínica, iniciou com sintomas psicóticos prodrômicos e progrediu para piora mental grave, que culminou em internação psiquiátrica e diagnóstico de esquizofrenia no decorrer dos meses seguintes. Conclusões: Nota-se, neste caso, correlação direta entre esses dois eventos; mas, em razão da escassez de trabalhos científicos que abordem tais questões, depreende-se que é preciso investigar e estudar com maior profundidade possíveis associações entre acidentes crotálicos e psicoses.

Introduction: Snakebites are neglected diseases and constitute an important part of the morbidity of working-age people who live in rural areas. Most of their short-term effects are widely known, especially those of a clinical nature; however, there is still an important gap in the knowledge of the long-term consequences of such injuries, notably those of a psychotic nature. This article aims to report a case of mental illness subsequent to a rattlesnake bite accident and generate cultural and pathophysiological reflections regarding the consequences of such events. Case presentation: An adolescent residing in the interior of the state of Bahia was bitten by a rattlesnake and required hospitalization in an intensive care unit. It was observed that even after clinical improvement, the case started with prodromal psychotic symptoms and progressed to severe mental deterioration that culminated in psychiatric hospitalization and diagnosis of schizophrenia over the following months. Conclusions: In this case, there was a direct correlation between these two events, but because of the scarcity of scientific works that address such issues, it is necessary to investigate and study in greater depth possible associations between snakebite accidents and psychoses.

Introducción: Las mordeduras de serpientes son enfermedades desatendidas y constituyen una parte importante de la morbilidad de las personas en edad laboral que viven en zonas rurales. La mayoría de sus efectos a corto plazo son ampliamente conocidos, especialmente los de carácter clínico; sin embargo, todavía existe un importante vacío en el conocimiento de las consecuencias a largo plazo de este tipo de lesiones, en particular las de carácter psíquico. Este artículo tiene como objetivo informar un caso de enfermedad mental posterior a un accidente crotálico y generar reflexiones culturales y fisiopatológicas sobre las consecuencias de tales eventos. Presentación del caso: Se trata de un adolescente residente en el interior de Bahía que fue mordido por una serpiente cascabel y requirió hospitalización en unidad de cuidados intensivos. Se observó que, aún después de la mejoría clínica, comenzó con síntomas psicóticos prodrómicos y progresó a un deterioro mental severo que culminó con hospitalización psiquiátrica y diagnóstico de esquizofrenia en los meses siguientes. Conclusiones: En este caso, existe una correlación directa entre estos dos eventos pero, debido a la escasez de trabajos científicos que aborden tales cuestiones, parece necesario investigar y estudiar con mayor profundidad posibles asociaciones entre accidentes crotálicos y psicosis.

Relato de caso de lombalgia inflamatória com extenso comprometimento anatômico-funcional: a importância de uma adequada abordagem da dor lombar na Atenção Primária à Saúde / Case report of inflammatory low back pain with extensive anatomical-functional impairment: The importance of an adequate approach to low back pain in Primary Care / Presentación de un caso de lumbalgia inflamatoria con afectación anatómico-funcional extensa: La importancia de un abordaje adecuado de la lumbalgia en Atención Primaria de Salud

Introdução: A lombalgia é uma condição prevalente e que apresenta importante impacto na capacidade funcional e na qualidade de vida, sendo a sua correta abordagem na Atenção Primária à Saúde fundamental para a identificação e o estabelecimento de um diagnóstico etiológico precoce de possíveis patologias que possam estar relacionadas a desfechos mórbidos e a graves limitações funcionais. Apresentação do caso: Paciente de 56 anos, sexo masculino, hipertenso, foi encaminhado para serviço especializado de reumatologia com histórico de lombalgia havia mais de 20 anos. Ao exame físico foi constatada presença de deformidades da coluna vertebral e extensa limitação de movimentos. Exames radiográficos mostravam esclerose de articulações sacroilíacas, osteopenia difusa e coluna vertebral em aspecto de "bambu". Conclusões: Constata-se a importância de que na abordagem das lombalgias na atenção primária se busque o reconhecimento de possíveis etiologias graves e potencialmente incapacitantes que possam estar subjacentes à queixa de dor lombar. Com esse objetivo, é fundamental o reconhecimento das chamadas red flags relacionadas às lombalgias, além de sua caracterização como mecânica ou inflamatória. Perante a atuação da atenção primária no oferecimento de um cuidado pautado na integralidade e na prevenção de agravos, reafirma-se a importância de uma avaliação clínica pormenorizada das lombalgias nesse nível de atenção à saúde.

Introduction: Low back pain is a prevalent condition that has an important impact on functional capacity and quality of life, and its correct approach in Primary Care is fundamental to the identification and establishment of an early etiological diagnosis of possible pathologies that may be related to outcomes morbid conditions and serious functional limitations. Case presentation: 56-year-old male patient, hypertensive, referred to a specialized rheumatology service with a history of low back pain for over 20 years. Physical examination revealed the presence of spinal deformities and extensive movement limitations. Radiographic examinations showing sclerosis of the sacro-iliac joints, diffuse osteopenia and a "bamboo" appearance of the spine. Conclusions: It is important that in the approach of low back pain in Primary Care, we seek to recognize possible serious and potentially disabling etiologies that may underlie the complaint of low back pain. For that, it is essential to recognize the so-called "red flags" related to low back pain, in addition to its characterization as mechanical or inflammatory. Given the role of Primary Care in offering care based on integrality and in the prevention of injuries, the importance of a detailed clinical assessment of low back pain at this level of health care is reaffirmed.

Introducción: La lumbalgia es una patología prevalente que tiene un impacto importante en la capacidad funcional y la calidad de vida, y su correcto abordaje en Atención Primaria de Salud es fundamental para la identificación y establecimiento de un diagnóstico etiológico precoz de posibles patologías que puedan estar relacionadas con los resultados, condiciones morbosas y limitaciones funcionales graves. Presentación del caso: Paciente masculino de 56 años, hipertenso, remitido a servicio especializado de reumatología con antecedentes de dolor lumbar de más de 20 años. El examen físico reveló la presencia de deformidades de la columna y amplias limitaciones de movimiento. Los exámenes radiológicos muestran esclerosis de las articulaciones sacroilíacas, osteopenia difusa y una apariencia de "bambú" de la columna. Conclusiones: Es importante que al abordar la lumbalgia en Atención Primaria de Salud busquemos reconocer las posibles etiologías graves y potencialmente incapacitantes que pueden subyacer a la queja de lumbalgia. Con este objetivo, es fundamental reconocer las llamadas "banderas rojas" relacionadas con la lumbalgia, además de su caracterización como mecánica o inflamatoria. Dado el papel de Atención Primaria de Salud a la hora de ofrecer una atención basada en la integralidad y prevención de enfermedades, se reafirma la importancia de una evaluación clínica detallada de la lumbalgia en este nivel de atención sanitaria.

Congenital epulis of the newborn; A case report.

INTRODUCTION: Congenital epulis, also known as Neumann's tumor, is an uncommon benign tumor of the oral mucosa that occurs in newborns. It is a rare condition, with fewer than 250 reported cases worldwide. The exact cause or underlying mechanism of this tumor is still not well understood. CASE PRESENTATION: We present a three-day-old male neonate who presented with a swelling on the gingiva that had been present since birth. The infant did not encounter any difficulties with feeding or breathing. The patient had a single, round, pink swelling measuring 2 × 2 × 1 cm on the right maxillary alveolar ridge. The swelling was surgically removed under general anesthesia. Microscopic examination revealed large polygonal cells with abundant granular cytoplasm, centrally located nuclei indicating a diagnosis of congenital epulis. CLINICAL DISCUSSION: Clinical manifestation could vary from no symptoms to feeding difficulty and rarely airway obstruction. It usually tends to grow on anterior alveolar ridge of the newborns, more on the maxilla than on the mandible. Confirmation of the diagnosis is by histopathology, which commonly shows proliferation of polygonal round cells with eosinophilic granular cytoplasm and round central nucleus. Congenital epulis can be approached using different management techniques depending on the size, site of the tumor, and presenting symptoms of the newborns. CONCLUSION: Congenital epulis is rare, but it has to be considered as a differential diagnosis for gingival swelling among neonates.

A case report of BIA-ALCL: Diagnostic, treatment, and mammary reconstruction.

INTRODUCTION AND IMPORTANCE: BIA-ALCL is a non-Hodgkin lymphoma occurring primarily in women with textured breast implants, typically presenting as late seroma. Diagnosis involves ultrasound-guided fine-needle aspiration or core needle biopsy, followed by cytologic and immunohistochemical evaluation. Positive results show CD30 cell expression and lack ALK expression. Treatment includes removing breast implants and the periprosthetic capsule. If the lymphoma has spread, en bloc capsulectomy, immunotherapy, and chemotherapy are required. Reconstruction can be done with smooth implants or autologous tissue. PRESENTATION OF CASE: We present here the case of a woman with a 12-year history of microtextured breast implants, without any cancer family background, who presented with peri-implant effusion in the left breast, which tested positive for BIA-ALCL at stage IA. The patient underwent breast implant removal with total capsulectomy and posterior successful autologous tissue reconstruction, demonstrating that outcomes can be satisfactory when properly treated. CLINICAL DISCUSSION: Paying attention to signs in women with breast implants, beyond imaging tests, can aid in the early diagnosis of BIA-ALCL and ensure a not aggressive treatment. This approach allows the reconstruction with autologous tissue without the need of further implants. CONCLUSION: BIA-ALCL is a rare disease, further studies about this lymphoma can help with early diagnosis and potential prevention.

Successful management of large incarcerated inguinal hernia: A case report and literature review.

INTRODUCTION AND IMPORTANCE: Hernias containing organs like the cecum, appendix, sigmoid colon, ureter, and omentum are less common compared to typical inguinal hernias involving the small intestine. Patients typically present with inguinoscrotal swelling. CASE PRESENTATION: A 53-year-old male with ischemic heart disease, diabetes, and hypertension presented with vomiting and no bowel movement for 24 h. He had a long-standing left inguinoscrotal hernia and recently underwent cardiac catheterization. Examination showed a massive hernia and an empty rectum. Imaging confirmed a small bowel obstruction. Surgery revealed an incarcerated hernia containing multiple organs, which were reduced, and hernioplasty was performed. Postoperatively, he developed abdominal compartment syndrome, necessitating decompressive laparotomy. His abdomen was closed on day 13, and he was discharged on day 30. CLINICAL DISCUSSION: Hernias, particularly when they become incarcerated, pose significant risks to patients. If untreated, they can progress to strangulated hernias, leading to bowel ischemia and potentially fatal outcomes. CONCLUSION: Inguinal hernias are diagnosed primarily through clinical examination. It is rare for these hernias to contain the cecum, appendix, sigmoid colon, ureter, and omentum, and such cases are typically associated with intestinal obstruction.

Clinical and histopathological spectrum of congenital pulmonary airway malformations: A case series.

BACKGROUND: Congenital pulmonary airway malformations (CPAM) are a spectrum of cystic and non-cystic anomalies arising from abnormal airway development in utero, with an incidence of 1 in 25,000 to 35,000 births. CPAM can present prenatally or postnatally with respiratory distress, recurrent infections, or occasionally as an incidental finding. This case series aims to highlight the clinical, radiological, and histopathological characteristics of CPAM through three pediatric cases, which include types 1, 2, and 3 CPAM. CASE PRESENTATION: Case 1: A four-month-old male presented with cough, cold, and respiratory distress. Imaging revealed hypoattenuation and overinflation of the left upper lobe with mediastinal shift. Left upper lobectomy confirmed CPAM type 2. Case 2: A one-month-old female presented with recurrent respiratory distress and infections. Imaging showed a large cystic lesion in the right middle lobe. Right middle lobectomy confirmed CPAM type 3. Case 3: A two-month-old male presented with dyspnea. Imaging showed a large bullae in the right chest with mediastinal shift. Right upper lobectomy confirmed CPAM type 1. CLINICAL DISCUSSION: CPAM is a rare congenital lung malformation characterized by abnormal bronchial development and localized glandular overgrowth. Management involves surgical resection, with the timing of surgery dependent on symptomatology. Early identification and intervention are crucial for preventing complications such as pulmonary hypoplasia and recurrent infections. Histopathological examination post-resection is essential for accurate classification and management of CPAM. CONCLUSION: This case series provides valuable insights into the clinical, radiological, and histopathological features of CPAM, including the types encountered in each case. It underscores the importance of early diagnosis and timely surgical intervention, advocating for routine prenatal and postnatal screenings to effectively identify and manage CPAM.

Self-care styles of patients with chronic obstructive pulmonary disease: A mixed methods case study.

BACKGROUND: In people affected by chronic obstructive pulmonary disease (COPD), self-care is crucial for improving quality of life, decreasing symptom burden, and reducing health care-related costs. Unlike other chronic conditions, little is known about the factors that influence different self-care styles in COPD patients. OBJECTIVES: To explore the factors that could influence the self-care styles of patients with COPD. METHODS: A mixed methods case study design was used. Quantitative and qualitative data were collected at the same stage in a purposive sample of patients with COPD through questionnaires, interviews, and focus groups. Data were analyzed separately and then integrated to compare the cases. RESULTS: Thirty-seven patients with COPD were recruited from an outpatient clinic, pulmonary rehabilitation unit and online in a patient support group. On average, participants scored below the level of adequacy in all self-care dimensions. Self-care maintenance was influenced by patient age, education level, and economic status. Most participants reported performing self-care behaviors, while some did not because they found it difficult or because they did not recognize their importance. When the quantitative and qualitative data of patients with higher and lower levels of self-care were integrated, four different styles of self-care were identified according to COPD severity, psychological distress and level of self-efficacy: proactive, inactive, reactive, and hypoactive. CONCLUSIONS: Personal, clinical, psychological, and social factors not only influence the level of self-care performed by COPD patients but also contribute to the understanding of different self-care styles. This knowledge could support health care professionals in tailoring educational interventions.

The public health impact of COVID-19 variants of concern on the effectiveness of contact tracing in Vermont, United States.

Case investigation and contact tracing (CICT) are public health measures that aim to break the chain of pathogen transmission. Changes in viral characteristics of COVID-19 variants have likely affected the effectiveness of CICT programs. We estimated and compared the cases averted in Vermont when the original COVID-19 strain circulated (Nov. 25, 2020-Jan. 19, 2021) with two periods when the Delta strain dominated (Aug. 1-Sept. 25, 2021, and Sept. 26-Nov. 20, 2021). When the original strain circulated, we estimated that CICT prevented 7180 cases (55% reduction in disease burden), compared to 1437 (15% reduction) and 9970 cases (40% reduction) when the Delta strain circulated. Despite the Delta variant being more infectious and having a shorter latency period, CICT remained an effective tool to slow spread of COVID-19; while these viral characteristics did diminish CICT effectiveness, non-viral characteristics had a much greater impact on CICT effectiveness.

Malaria community case management usage and quality of malaria care in a moderate Plasmodium falciparum burden region of Chadiza District, Zambia.

BACKGROUND: Malaria community case management (CCM) can improve timely access to healthcare, and CCM programmes in sub-Saharan Africa are expanding from serving children under 5 years (CU5) only to all ages. This report characterizes malaria case management in the setting of an age-expanded CCM programme in Chadiza District, Zambia. METHODS: Thirty-three households in each of 73 eligible communities were randomly selected to participate in a household survey preceding a trial of proactive CCM (NCT04839900). All household members were asked about fever in the prior two weeks and received a malaria rapid diagnostic test (RDT); those reporting fever were asked about healthcare received. Weighted population estimates were calculated and mixed effects regression was used to assess factors associated with malaria care seeking. RESULTS: Among 11,030 (98.6%) participants with RDT results (2,357 households), parasite prevalence was 19.1% by RDT; school-aged children (SAC, 5-14 years) had the highest prevalence (28.8%). Prior fever was reported by 12.4% of CU5, 7.5% of SAC, and 7.2% of individuals ≥ 15 years. Among those with prior fever, 34.0% of CU5, 56.0% of SAC, and 22.6% of individuals ≥ 15 years had a positive survey RDT and 73.7% of CU5, 66.5% of SAC, and 56.3% of individuals ≥ 15 years reported seeking treatment; 76.7% across all ages visited a CHW as part of care. Nearly 90% (87.8%) of people who visited a CHW reported a blood test compared with 73.5% seen only at a health facility and/or pharmacy (p < 0.001). Reported malaria treatment was similar by provider, and 85.9% of those with a reported positive malaria test reported getting malaria treatment; 66.9% of the subset with prior fever and a positive survey RDT reported malaria treatment. Age under 5 years, monthly or more frequent CHW home visits, and greater wealth were associated with increased odds of receiving healthcare. CONCLUSIONS: Chadiza District had high CHW coverage among individuals who sought care for fever. Further interventions are needed to increase the proportion of febrile individuals who receive healthcare. Strategies to decrease barriers to healthcare, such as CHW home visits, particularly targeting those of all ages in lower wealth strata, could maximize the benefits of CHW programmes.

A rare case of concomitant endometrioid adenocarcinoma arising from uterine adenomyosis and clear cell carcinoma arising from parametrial deep endometriosis.

BACKGROUND: Carcinomatous changes from the ectopic endometrial glands in endometriosis have been reported in many studies, but malignant transformation from uterine adenomyosis/adenomyoma is rare. And clear cell-like adenocarcinoma represents a seldom-encountered malignant pathological variant of ectopic endometrium. CASE PRESENTATION: This case report presents a case of a 44-year-old nulliparous woman begun with abdominal pain and intestinal obstruction. Past medical history showed laparoscopic ovarian endometriotic cyst excision. Ultrasound indicated adenomyoma and a parametrial hypoechoic nodule with abundant blood flow signals and unclear boundaries. Deep invasive endometriosis was considered preoperatively. The patient underwent laparoscopic subtotal hysterectomy and bilateral adnexa resection. Chocolate cyst-like lesion was observed in the parametral lesion. Postoperative pathological examinations suggested endometrioid adenocarcinoma arising from eutopic endometrium and adenomyoma. Ectopic endometrium in the myometrium combined with atypical hyperplasia and formation of endometrioid adenocarcinoma. Left parametrial lesions suggested poorly differentiated endometrioid adenocarcinoma combined with clear cell carcinoma. CD10 + endometrial stromal cells were observed surrounding tumor cell masses. Combined with surgical founding and pathological characters of the left parametrial adenocarcinoma, the parametrial lesions were more likely to be carcinomatous changes of the original deep endometriosis.The patient underwent subsequent transabdominal tumor cell reduction surgery and chemotherapy. CONCLUSION: We herein present a rare case of combined endometrioid adenocarcinoma arising from uterine adenomyosis and clear cell carcinoma arising from parametrial deep endometriosis that may help inspire additional studies in the future. The patient underwent robot-assisted laparoscopic subtotal hysterectomy, bilateral adnexa resection, deep endometriosis lesion resection and bilateral ureteral stent placement. Following surgery, a chemotherapy regimen of Taxol and Carboplatin was administered.

Random forests for the analysis of matched case-control studies.

BACKGROUND: Conditional logistic regression trees have been proposed as a flexible alternative to the standard method of conditional logistic regression for the analysis of matched case-control studies. While they allow to avoid the strict assumption of linearity and automatically incorporate interactions, conditional logistic regression trees may suffer from a relatively high variability. Further machine learning methods for the analysis of matched case-control studies are missing because conventional machine learning methods cannot handle the matched structure of the data. RESULTS: A random forest method for the analysis of matched case-control studies based on conditional logistic regression trees is proposed, which overcomes the issue of high variability. It provides an accurate estimation of exposure effects while being more flexible in the functional form of covariate effects. The efficacy of the method is illustrated in a simulation study and within an application to real-world data from a matched case-control study on the effect of regular participation in cervical cancer screening on the development of cervical cancer. CONCLUSIONS: The proposed random forest method is a promising add-on to the toolbox for the analysis of matched case-control studies and addresses the need for machine-learning methods in this field. It provides a more flexible approach compared to the standard method of conditional logistic regression, but also compared to conditional logistic regression trees. It allows for non-linearity and the automatic inclusion of interaction effects and is suitable both for exploratory and explanatory analyses.

Integrase inhibitor drugs during pregnancy and congenital anomalies: A case/non-case study from the global pharmacovigilance database VigiBase®.

In 2018, a significant neural tube defects (NTD) signal was reported after pre-conceptional exposure to dolutegravir, but was not confirmed in further analysis. Since 2019, dolutegravir-based regimen, an integrase inhibitor (INI), is recommended by WHO as the most-effective first-line therapy in all patients living with HIV. To explore the potential INI-related teratogenic effect, we searched disproportionate signals between exposure to INI-class drugs and congenital anomalies, compared to non-INI drugs, using the international pharmacovigilance database, VigiBase®. We selected all the reports registered in VigiBase® between 01/01/2007 and 30/03/2021 on any antiretroviral drug-related fetal or neonatal adverse drug reactions, declared either in children (<2 years) exposed in utero or in pregnant women (12-50 years). A case/non-case study was conducted to detected signals between congenital anomalies and prenatal exposure to any INI-class drug, compared to non-INI drugs, by estimating adjusted reporting odds ratios (aROR) with 95% confidence intervals (95%CI). We identified 2521 unique reports, among which 664 (26.3%) were related to INI-class use. Overall, 520 congenital anomalies were cited from 327 unique reports, of whom 31.0% were INI-related. Compared to non-INI drugs, no significant disproportionate reporting signal between prenatal exposure to INI-class drugs and congenital anomalies was found (aROR 1.13; 95% CI:0.85-1.51). However, specific significant signals were reported for raltegravir/elvitegravir/dolutegravir drug exposure and urinary malformations (aROR 2.43; 95%CI:1.08-5.43), digestive malformations (aROR 3.09; 95%CI:1.22-7.84), and NTDs (aROR 3.02; 95%CI:1.09-8.37). Although specific congenital anomalies signals associated with raltegravir/elvitegravir/dolutegravir exposure were notified, causal relationship needs to be further investigated in prospective studies.

Grace periods and exposure misclassification in self-controlled case-series studies of drug-drug interactions.

The self-controlled case-series (SCCS) research design is increasingly used in pharmacoepidemiologic studies of drug-drug interactions (DDIs), with the target of inference being the incidence rate ratio (IRR) associated with concomitant exposure to the object plus precipitant drug versus the object drug alone. While day-level drug exposure can be inferred from dispensing claims, these inferences may be inaccurate, leading to biased IRRs. Grace periods (periods assuming continued treatment impact after days' supply exhaustion) are frequently used by researchers, but the impact of grace period decisions on bias from exposure misclassification remains unclear. Motivated by an SCCS study examining the potential DDI between clopidogrel (object) and warfarin (precipitant), we investigated bias due to precipitant or object exposure misclassification using simulations. We show that misclassified precipitant treatment always biases the estimated IRR toward the null, whereas misclassified object treatment may lead to bias in either direction or no bias, depending on the scenario. Further, including a grace period for each object dispensing may unintentionally increase the risk of misclassification bias. To minimize such bias, we recommend 1) avoiding the use of grace periods when specifying object drug exposure episodes; and 2) including a washout period following each precipitant exposed period.

CYP19A1 polymorphisms and bladder cancer risk in the Chinese Han population.

BACKGROUND: The expression of CYP19A1 has implications for the prognosis of female bladder cancer. However, this study aimed to explore the association between single nucleotide polymorphisms (SNPs) in CYP19A1 and bladder cancer risk, as no prior research has addressed this association. RESEARCH DESIGN AND METHODS: We selected and genotyped five CYP19A1 SNPs (rs4646, rs6493487, rs1062033, rs17601876, and rs3751599) in 217 patients and 550 controls using the Agena MassARRAY system. Logistic regression analysis was employed to calculate the odds ratio (OR) and 95% confidence intervals (CIs). Bioinformatics predicted SNP functions and CYP19A1 involving pathways. RESULTS: Our study revealed a significant association between bladder cancer risk and four SNPs (rs4646 (AC vs. CC: OR = 1.71, FDR-p = 0.005), rs6493487 (G vs. A: OR = 0.68, FDR-p = 0.011), rs1062033 (G vs. C: OR = 0.36, FDR-p < 0.001), and rs17601876 (GA vs. GG: OR = 1.66, FDR-p = 0.008)) in CYP19A1. The three SNPs (rs4646, rs1062033, and rs17601876) were significantly correlated with CYP19A1 expression levels in normal whole blood (p < 0.05). Moreover, CYP19A1 were found to primarily participate in the steroid hormone biosynthesis and metabolic pathways. CONCLUSIONS: Consequently, CYP19A1 gene polymorphisms may play a crucial role in the genetic susceptibility to bladder cancer.

Unilateral testicular tuberculosis in a kidney transplant recipient: a case report.

Tuberculosis (TB) of the genitourinary system is a rare form of extrapulmonary TB. Testicular TB is particularly uncommon among kidney transplantation (KT) recipients. Diagnosing testicular TB is challenging due to the nonspecific nature of clinical presentations and ambiguous imaging results. In this report, we describe a case involving a 36-year-old male KT recipient who presented with left scrotal pain. He had undergone a living donor KT 8 years prior and was receiving tacrolimus, mycophenolate mofetil, and prednisolone. Laboratory tests revealed anemia, leukocytosis, and elevated inflammatory markers. Computed tomography showed left scrotal wall thickening and enlargement, suggestive of a left testicular abscess. We discontinued mycophenolate mofetil and administered intravenous antibiotics. Additionally, we performed an incision and drainage of the abscess. However, there was no improvement in his clinical course. Consequently, we performed a radical left orchiectomy. The biopsy revealed extensive chronic granulomatous inflammation with caseous necrosis, consistent with tuberculous orchiepididymitis. A quadruple anti-TB regimen was administered, leading to an improvement in the patient's condition. To the best of our knowledge, this is the first reported case of testicular TB without other organ involvement in KT recipients. Including testicular TB in the differential diagnosis of testicular infections and masses is necessary to avoid unnecessary surgical procedures.

Clinical and genetic evaluations of Zimmermann-Laband syndrome with gingival fibromatosis: a rare case report.

Zimmermann-Laband Syndrome (ZLS; MIM 135500) is a rare genetic disorder with the main clinical manifestations of gingival fibromatosis and finger/toe nail hypoplasia. KCNH1 (potassium channel, voltage-gated, subfamily H, member-1), KCNN3 (potassium channel, voltage-gated, subfamily H, member-3) and ATP6V1B2 (ATPase H+ transporting V1 subunit B2) genes are considered causative genes for ZLS. However, there are limited reports about the diverse clinical presentation and genetic heterogeneity. Reporting more information on phenotype-genotype correlation and the treatment of ZLS is necessary. This case reported a 2-year-old patient with gingival enlargement that failure of eruption of the deciduous teeth and severe hypoplasia of nails. Based on a systemic examination and a review of the relevant literature, we made an initial clinical diagnosis of ZLS. A novel pathogenic variant in the KCNH1 gene was identified using whole-exome sequencing to substantiate our preliminary diagnosis. The histopathological results were consistent with gingival fibromatosis. Gingivectomy and gingivoplasty were performed under general anesthesia. After surgery, the gingival appearance improved significantly, and the masticatory function of the teeth was restored. After 2-year follow-up, the gingival showed slightly hyperplasia. Systemic examination and gene sequencing firstly contribute to provide information for an early diagnosis for ZLS, then timely removal of the hyperplastic gingival facilitates the establishment of a normal occlusal relationship and improves oral aesthetics.

Unsupervised Feature Selection to Identify Important ICD-10 and ATC Codes for Machine Learning on a Cohort of Patients With Coronary Heart Disease: Retrospective Study.

Background: The application of machine learning in health care often necessitates the use of hierarchical codes such as the International Classification of Diseases (ICD) and Anatomical Therapeutic Chemical (ATC) systems. These codes classify diseases and medications, respectively, thereby forming extensive data dimensions. Unsupervised feature selection tackles the "curse of dimensionality" and helps to improve the accuracy and performance of supervised learning models by reducing the number of irrelevant or redundant features and avoiding overfitting. Techniques for unsupervised feature selection, such as filter, wrapper, and embedded methods, are implemented to select the most important features with the most intrinsic information. However, they face challenges due to the sheer volume of ICD and ATC codes and the hierarchical structures of these systems. Objective: The objective of this study was to compare several unsupervised feature selection methods for ICD and ATC code databases of patients with coronary artery disease in different aspects of performance and complexity and select the best set of features representing these patients. Methods: We compared several unsupervised feature selection methods for 2 ICD and 1 ATC code databases of 51,506 patients with coronary artery disease in Alberta, Canada. Specifically, we used the Laplacian score, unsupervised feature selection for multicluster data, autoencoder-inspired unsupervised feature selection, principal feature analysis, and concrete autoencoders with and without ICD or ATC tree weight adjustment to select the 100 best features from over 9000 ICD and 2000 ATC codes. We assessed the selected features based on their ability to reconstruct the initial feature space and predict 90-day mortality following discharge. We also compared the complexity of the selected features by mean code level in the ICD or ATC tree and the interpretability of the features in the mortality prediction task using Shapley analysis. Results: In feature space reconstruction and mortality prediction, the concrete autoencoder-based methods outperformed other techniques. Particularly, a weight-adjusted concrete autoencoder variant demonstrated improved reconstruction accuracy and significant predictive performance enhancement, confirmed by DeLong and McNemar tests (P<.05). Concrete autoencoders preferred more general codes, and they consistently reconstructed all features accurately. Additionally, features selected by weight-adjusted concrete autoencoders yielded higher Shapley values in mortality prediction than most alternatives. Conclusions: This study scrutinized 5 feature selection methods in ICD and ATC code data sets in an unsupervised context. Our findings underscore the superiority of the concrete autoencoder method in selecting salient features that represent the entire data set, offering a potential asset for subsequent machine learning research. We also present a novel weight adjustment approach for the concrete autoencoders specifically tailored for ICD and ATC code data sets to enhance the generalizability and interpretability of the selected features.

Perspectives of a non-medically and a medically qualified early career anatomy academic on facilitating case-based learning sessions for undergraduate medical students.

Case-based learning (CBL) is a student-centered pedagogy where medical students are given a real-world clinical problem. At St George's University of London (SGUL), anatomy academics can volunteer to facilitate CBL sessions for pre-clinical undergraduate medical students. The major benefits of facilitating CBL sessions from the perspective of a non-medically qualified early career anatomy academic (ECAA) include exposure to clinical cases that help the academic develop an understanding over key clinical cases at the context of clinical anatomy and other disciplines including physiology, pathology, and pharmacology. Furthermore, facilitating CBL sessions assists in the acquisition of basic knowledge over history taking, the conduction of clinical examinations, the investigations performed for the diagnosis of a condition as well as how it is managed. The major benefits of facilitating CBL sessions from the perspective of a medically qualified ECAA include staying in touch with the clinical aspect of medicine and becoming familiar with the country's healthcare system and its professional standards. Perceived benefits shared by both the non-medically and medically qualified ECAA include the opportunity to become familiar with the structure and key elements of the pre-clinical medical curriculum as well as gain experience in facilitating small group teaching sessions. Overall, facilitating CBL sessions can help non-medically and medically qualified ECAAs in different contexts that may help them with their individual career goals, can encourage collaborative discussions between clinical and non-clinical anatomy academics as well as help bridge the gap between the anatomy teaching approaches employed by non-medically qualified and medically qualified anatomy academics.

Early detection of multiple endocrine neoplasia type 1: A case report.

BACKGROUND: Multiple endocrine neoplasias (MENs) are a group of hereditary diseases involving multiple endocrine glands, and their prevalence is low. MEN type 1 (MEN1) has diverse clinical manifestations, mainly involving the parathyroid glands, gastrointestinal tract, pancreas and pituitary gland, making it easy to miss the clinical diagnosis. CASE SUMMARY: We present the case of a patient in whom MEN1 was detected early. A middle-aged male with recurrent abdominal pain and diarrhea was admitted to the hospital. Blood tests at admission revealed hypercalcemia and hypophosphatemia, and emission computed tomography of the parathyroid glands revealed a hyperfunctioning parathyroid lesion. Gastroscopy findings suggested a duodenal bulge and ulceration. Ultrasound endoscopy revealed a hypoechoic lesion in the duodenal bulb. Further blood tests revealed elevated levels of serum gastrin. Surgery was performed, and pathological analysis of the surgical specimens revealed a parathyroid adenoma after parathyroidectomy and a neuroendocrine tumor after duodenal bulbectomy. The time from onset to the definitive diagnosis of MEN1 was only approximately 1 year. CONCLUSION: For patients who present with gastrointestinal symptoms accompanied by hypercalcemia and hypophosphatemia, clinicians need to be alert to the possibility of MEN1.

A Case Report of Aortic Intramural Hematoma: From Diagnosis to Endovascular Treatment Guided by Transesophageal Echocardiography.

Aortic intramural hematoma (IMH) accounts for approximately 10%-25% of acute aortic syndromes (AAS), and multi-slice computed tomography and magnetic resonance imaging are the leading techniques for diagnosis and classification. In this context, endovascular strategies provide a valid alternative to traditional open surgery and transesophageal echocardiography (TEE) could play a role in therapeutic decision-making and in endovascular repair procedure guidance. A 57-year-old female patient with IMH extending from the left subclavian artery to the upper tract of the abdominal aorta, underwent endovascular aortic repair using an unibody single-branched stent grafting in the aortic arch and descending aorta with a side branch inserted in the left common carotid artery. To restore proper flow in the left axillary artery, a carotid-subclavian bypass graft was performed. The procedure was guided by angiography and TEE. Intraoperative TEE revealed aortic IMH with a significant fluid component in the middle tunic of the aorta with a wall thickness of over 13 mm. TEE was useful in monitoring of all steps of the procedure, showing the presence of the guidewires into the true lumen, the advancement of the prosthesis, and the phases of release and anchoring. This case highlights the importance of using multimodality imaging techniques to evaluate AAS and demonstrates the growing potential of TEE in guiding endovascular repairs.