Síndrome de Hedinger secundario a Tumor neuroendocrino bronquial. Presentación de un caso

El síndrome carcinoide es un síndrome paraneoplásico que se presenta en tumores neuroendocrinos. Aunque es una entidad infrecuente suele ser la primera manifestación de la enfermedad. La baja incidencia junto a la presentación inespecífica genera retrasos diagnósticos importantes. Se presenta el caso de una paciente con síntomas digestivos y tuforadas que posteriormente agrega insuficiencia cardíaca, logrando mediante un ecocardiograma típico y marcadores analíticos el diagnóstico de síndrome carcinoide. Posteriormente se evidencia que su origen en un tumor neuroendocrino bronquial. Conocer las características de este síndrome es fundamental para mantener una alta sospecha clínica en pacientes con síntomas sugestivos logrando un diagnóstico precoz y adecuado.

Carcinoid syndrome is a paraneoplastic syndrome that occurs in neuroendocrine tumors. Although It is an uncommon entity, it is usually the first manifestation of the disease. The low incidence besides the non-specific presentation generates important diagnostic delays. We present the case of a patient presenting digestive symptoms and flushing that subsequently adds heart failure, achieving though a typical echocardiogram and analytical markers the diagnosis of carcinoid syndrome. Later it is discovered its origin in a bronchial neuroendocrine tumor. Knowing the characteristics of this syndrome is essential to maintain a high clinical suspicion in patients with suggestive symptoms, in order to achieve an early and adequate diagnosis.

El síndrome carcinoide é um síndrome paraneoplásico que ocorre em tumores neuroendócrinos. Embora seja uma entidade rara, geralmente é a primeira manifestação da doença. A baixa incidência, juntamente com a apresentação inespecífica, resulta em atrasos importantes no diagnóstico. Apresentamos o caso de uma paciente com sintomas digestivos e ruborização cutânea, que posteriormente desenvolve insuficiência cardíaca. O diagnóstico de síndrome carcinoide foi estabelecido por meio de um ecocardiograma característico e marcadores analíticos. Posteriormente, foi evidenciada a origem em um tumor neuroendócrino brônquico. Conhecer as características deste síndrome é fundamental para manter uma alta suspeita clínica em pacientes com sintomas sugestivos, permitindo um diagnóstico precoce e adequado.

Refractive features and amblyopia in Duane's Retraction Syndrome: A review of the 582 patients / Características refractivas y ambliopía en el síndrome de retracción de Duane: una revisión de los 582 pacientes

Purpose: To report the visual and refractive characteristics and the prevalence of amblyopia in patients with different types of Duane's Retraction Syndrome (DRS). Method: This retrospective study was performed on hospital records of 582 DRS patients at Farabi Hospital, Iran, from 2012 to March 2022. Results: The mean age of patients was 19.4 ± 11.9 (range, 3–70) years [335 (57.6 %) females and 247 (42.4 %) males (P < .001)]. DRS type I, II, III, and IV were presented in 347 (59.6 %), 148 (25.4 %), 82 (14.1 %), and 5 (0.9 %) patients, respectively. There were 530 (91.1 %) patients with unilateral and 52 (8.9 %) with bilateral involvement. In the unilateral patients, the DRS eyes' corrected distance visual acuity (CDVA) and astigmatism were significantly worse than the Non-DRS Eyes (P < .001). The mean amount of all refractive and visual parameters in bilateral patients' right or left eyes was significantly lower than in unilateral patients' non-DRS eyes (all P < .05). Anisometropia was observed in 75(12.9 %) of the patients. Amblyopia was observed in 18.5 % (98 patients) and 36.5 % (19 patients) of unilateral and bilateral DRS patients, respectively (P < .001). In unilateral patients, amblyopia was found in 57 (16.4 %) patients with Type I, 22 (14.9 %) patients with Type II, 16 (19.5 %) patients with Type III, and 3 (60 %) patients with Type IV. Forty-four (37.6 %) of patients with amblyopia had anisometropia. Conclusion: This large-scale study indicates that DRS types differ in terms of refractive error, visual acuity, and the prevalence of amblyopia and anisometropia. Clinicians should be aware of the clinical features associated with different types of DRS.(AU)

Cronología de la investigación sobre la dinámica cerebral de Justo Gonzalo / Chronology of Justo Gonzalo’s research on brain dynamics

Introducción: El neurocientífico español Justo Gonzalo y Rodríguez-Leal (1910-1986) investiga la organización funcional de la corteza cerebral durante más de cuatro décadas. Sus hallazgos le llevan a formular una teoría neurofisiológica basada en las leyes de la excitabilidad nerviosa, que denomina dinámica cerebral. En el presente trabajo se expone de forma cronológica cómo surgen las principales ideas sobre las que se articula.Desarrollo: En 1939 Gonzalo observa los denominados fenómenos de acción dinámica: desfasamiento, facilitación y repercusión cerebral. Le siguen dos principios: efecto cerebral de la lesión según la magnitud y posición (1941), y organización sensorial, según un desarrollo espiral (1947). Paralelamente, caracteriza lo que llama el síndrome central de la corteza cerebral. En la década de los cincuenta desarrolla los conceptos de gradiente cortical, similitud y alometría. En contraposición a las concepciones modulares de la corteza cerebral, en las que una región es responsable de una función, Gonzalo expresa que ‘los gradientes corticales dan la localización de los sistemas mientras la similitud y alometría revelan su trama funcional’.Conclusiones: La teoría de dinámica cerebral se articula en dos etapas. La primera (de 1938 a 1950) se caracteriza por una importante base clínica con observación de nuevos fenómenos y formulación de nuevos conceptos. La segunda (de 1950 a 1960) incluye la introducción de conceptos de mayor alcance, como el gradiente funcional cortical, y leyes de alometría que se basan en un cambio de escala. Actualmente, varios autores consideran que el concepto de gradiente es clave para entender la organización cerebral.(AU)

Introduction: The Spanish neuroscientist Justo Gonzalo y Rodríguez-Leal (1910-1986) investigated the functional organisation of the cerebral cortex over more than four decades. His findings led him to formulate a neurophysiological theory based on the laws of nervous excitability, which he called brain dynamics. This paper presents in chronological order how the main ideas on which it is based arose.Development: In 1939, Gonzalo observed the phenomena of dynamic action: asynchrony or disaggregation, facilitation and cerebral repercussion. This was followed by two principles: the cerebral effect of lesions according to their magnitude and position (1941), and spiral development of the sensory field (1947). At the same time, he characterised what he called the central syndrome of the cerebral cortex. In the 1950s he developed the concepts of the cortical gradient, similarity and allometry. In contrast to modular conceptions of the cerebral cortex, in which one region is responsible for one function, Gonzalo argued that ‘cortical gradients provide the location of systems, while similarity and allometry reveal their functional mechanism.’Conclusions: The theory of brain dynamics was established in two stages. The first (between 1938 and 1950) had an important clinical foundation, involving the observation of new phenomena and the formulation of new concepts. The second (between 1950 and 1960) included the introduction of more far-reaching concepts, such as the functional cortical gradient, and allometry laws based on a change of scale. Today, various authors believe that the concept of the gradient is crucial for understanding how the brain is organised.(AU)

Emergencia hipertensiva como debut de síndrome de Cushing paraneoplásico / Hypertensive Emergency as the Debut of Paraneoplastic Cushing Syndrome

Presentamos el caso de un paciente con antecedentes de hipertensión arterial vasculorrenal tratada un año antes, que acude a urgencias por emergencia hipertensiva (HTA) y disnea. Descartada primera sospecha de reestenosis de arteria renal con angiografía por tomografía computarizada (angioTC), se completa el estudio confirmándose diagnóstico de cáncer de pulmón mediante prueba de imagen y anatomía patológica. En el estudio de hipertensión se detecta elevación de hormona adrenocorticótropa (ACTH), hipercortisolismo y datos analíticos de hiperaldosteronismo. Con el diagnóstico final de síndrome de Cushing secundario a producción ectópica de ACTH se inicia tratamiento médico, sin llegar a recibir nada más por fallecimiento del paciente a los pocos días.(AU)

We present the case of a patient with a history of renal-vascular hypertension treated with stent one year previously, who attended the emergency room due to hypertensive emergency and dyspnea. Once the first suspicion of renal artery restenosis was ruled out with CT angiography, the study was completed, confirming the diagnosis of lung cancer through imaging and pathological anatomy. In the hormonal study, elevation of ACTH, hypercortisolism and analytical data of hyperaldosteronism were detected. With the final diagnosis of Cushing's syndrome secondary to ectopic production of ACTH, medical treatment was started, without being able to receive anything else due to the death of the patient after a few days.(AU)

Clinical reading-related oculomotor assessment in visual snow syndrome / Evaluación oculomotora clínica relacionada con la lectura en el síndrome de nieve visual

Purpose: Visual snow syndrome (VSS) is a complex neurological condition presenting with an array of sensory, motor, and perceptual dysfunctions and related visual and non-visual symptoms. Recent laboratory studies have found subtle, basic, saccadic-based abnormalities in this population. The objective of the present investigation was to determine if saccadic-related problems could be confirmed and extended using three common clinical reading-related eye movement tests having well-developed protocols and normative databases. Methods: This was a retrospective analysis of 32 patients (ages 16–56 years) diagnosed with VSS in the first author's optometric practice. There was a battery of three reading-related tests: the Visagraph Reading Eye Movement Test, the Developmental Eye Movement (DEM) Test, and the RightEye Dynamic Vision Assessment Test, all performed using their standard documented protocols and large normative databases. Results: A high frequency of oculomotor deficits was found with all three tests. The greatest percentage was revealed with the Visagraph (56%) and the least with the RightEye (23%). A total of 77% of patients failed at least one of the three tests. Conclusion: The present findings confirm and extend earlier investigations revealing a high frequency of saccadic-based oculomotor problems in the VSS population, now including reading-related tasks. This is consistent with the more general oculomotor/motor problems found in these individuals.(AU)

Prevalence of dry eye disease in the low vision population at the University of Colorado

Purpose: To evaluate the prevalence of diagnosed dry eye syndrome, meibomian gland dysfunction, and blepharitis amongst the low vision population. Methods: A retrospective analysis was conducted on patients seen in the University of Colorado Low Vision Rehabilitation Service between the dates of 12/1/2017 and 12/1/2022. 74 ICD-10 codes were used to identify patients as having dry eye syndrome or not having dry eye syndrome. Data was further analyzed to determine the prevalence of blepharitis and meibomian gland dysfunction using 29 blepharitis and 9 meibomian gland dysfunction ICD-10 codes. Data were also analyzed to determine the age and sex of the patients with diagnosed dry eye syndrome. Results: The percentage of patients with a diagnosis of dry eye syndrome by an eyecare provider was 38.02 %. The prevalence of dry eye syndrome by age group was 3.57 % for 0–19 years, 14.35 % for 20–39 years, 29.07 % for 40–59 years, 43.79 % for 60–79 years, and 46.21 % for 80 and above. The prevalence of meibomian gland dysfunction and blepharitis was 11.90 % and 9.1 % respectively. Dry eye syndrome prevalence amongst males was 31.59 % and 42.47 % for females. Conclusion: This study demonstrates that dry eye syndrome in the low vision population is a significant co-morbidity occurring in over a third of patients in the University of Colorado Low Vision Rehabilitation Service. These findings are meaningful as ocular comfort should not be overlooked while managing complex visual needs. (AU)

Concomitant treatment with safinamide and antidepressant drugs: Safety data from real clinical practice / Tratamiento concomitante de safinamida y antidepresivos: Datos de seguridad sobre la práctica en la vida real

Background and purpose: The aim of this study was to assess the possible pharmacological interactions between safinamide and antidepressants, and in particular the appearance of serotonin syndrome with data from real life. Methods: We conducted a retrospective observational study of patients with Parkinson's disease from our Movement Disorders Unit, who were under treatment with any antidepressant drug and safinamide. Specifically, symptoms suggestive of serotonin syndrome were screened for. Also, we collected time of simultaneous use, doses of levodopa and other antiparkinsonian drugs. Results: Clinical records were reviewed for the study period of September 2018 to September 2019. Seventy-eight PD patients who were treated with safinamide of which 25 (32.05%) had a concomitant treatment with an antidepressant drug, being sertraline and escitalopram the most frequent. Mean age was 80 years ± 8.43 and H&Y stage was 3 [2–4]. Mean dose of levodopa used was 703.75 mg ± 233.15. Median duration of concomitant treatment with safinamide and antidepressant drug was 6 months (IQR 20.5), and over eighteen months in 5 cases. No case of serotonin syndrome was recorded, neither was any of its typical manifestations combined or in isolation. Conclusions: Our real clinical practice study suggests that concomitant use of safinamide with antidepressant drugs in PD patients seemed to be safe and well tolerated, even in the long term. However, caution is warranted, individualizing treatment regimens and monitoring the potential appearance of adverse effects.(AU)

Objetivos: El objetivo de este estudio ha sido evaluar las posibles interacciones farmacológicas entre safinamida y antidepresivos; en particular la aparición del síndrome serotoninérgico mediante datos obtenidos en la vida real. Material y métodos: Realizamos un estudio observacional retrospectivo de pacientes con enfermedad de Parkinson (EP) de nuestra unidad de trastornos del movimiento, que estaban en tratamiento con algún fármaco antidepresivo y safinamida. Específicamente, se examinaron los síntomas sugestivos de síndrome serotoninérgico. Además, se recogieron tiempos de uso simultáneo, dosis de levodopa y otros fármacos antiparkinsonianos concomitantes. Resultados: Se revisaron las historias clínicas correspondientes al período de estudio de septiembre de 2018 a septiembre de 2019. Setenta y ocho pacientes con EP se encontraban en tratamiento con safinamida, de los cuales 25 (32,05%) se encontraban recibiendo además un fármaco antidepresivo, siendo sertralina y escitalopram los más frecuentes. La edad media fue de 80 años ± 8,43 y el estadio H&Y fue de 3 [2-4]. La dosis media de levodopa utilizada fue de 703,75 mg ± 233,15. La mediana de duración del tratamiento concomitante con safinamida y un fármaco antidepresivo fue de 6 meses (IQR: 20,5), y más de 18 meses en 5 casos. No se registró ningún caso de síndrome serotoninérgico, ni tampoco ninguno de sus síntomas de forma aislada. Conclusión: Nuestro estudio de práctica clínica real sugiere que el uso concomitante de safinamida con fármacos antidepresivos en pacientes con EP parece ser seguro y bien tolerado, incluso a largo plazo. Sin embargo, es necesaria precaución, individualizando los regímenes de tratamiento, y controlando la posible aparición de efectos adversos.(AU)

Tumor analysis of MMR genes in Lynch-like syndrome: Challenges associated with results interpretation.

BACKGROUND: Up to 70% of suspected Lynch syndrome patients harboring MMR deficient tumors lack identifiable germline pathogenic variants in MMR genes, being referred to as Lynch-like syndrome (LLS). Previous studies have reported biallelic somatic MMR inactivation in a variable range of LLS-associated tumors. Moreover, translating tumor testing results into patient management remains controversial. Our aim is to assess the challenges associated with the implementation of tumoral MMR gene testing in routine workflows. METHODS: Here, we present the clinical characterization of 229 LLS patients. MMR gene testing was performed in 39 available tumors, and results were analyzed using two variant allele frequency (VAF) thresholds (≥5% and ≥10%). RESULTS AND DISCUSSION: More biallelic somatic events were identified at VAF ≥ 5% than ≥10% (35.9% vs. 25.6%), although the rate of nonconcordant results regarding immunohistochemical pattern increased (30.8% vs. 20.5%). Interpretation difficulties question the current utility of the identification of MMR somatic hits in the diagnostic algorithm of suspected LS cases.

Coronary Air Embolism Secondary to Percutaneous Lung Biopsy: A Systematic Review.

To determine mortality and morbidity associated with coronary air embolism (CAE) secondary to complications of percutaneous lung biopsy (PLB) and illicit-specific risk factor associated with this complication and overall mortality, we searched PubMed to identify reported cases of CAE secondary to PLB. After assessing inclusion eligibility, a total of 31 cases from 26 publications were included in our study. Data were analyzed using Fisher's exact test. In 31 reported cases, cardiac arrest was more common after left lower lobe (LLL) biopsies (n=4, 80%, p=0.001). Of these patients who suffered from cardiac arrest, CAE was found more frequently in the right coronary artery (RCA) than other locations but did not reach statistical significance (n=5, 62%, p=0.39). At the same time, intervention in the LLL was significantly associated with patient mortality (n=3, 60%, p=0.010). Of the patients who died, CAE was more likely to have occurred in the RCA, but this association was not statistically significant (n=4, 57%, p=0.33). LLL biopsies have a statistically significant correlation with cardiac arrest and patient death. More research is needed to examine the effect of the air location in the RCA on patient morbidity and mortality.

Postpartum Guillain-Barré Syndrome: A Case Report and Literature Review.

Guillain-Barré syndrome (GBS) is a rare acute-onset neurological disease with significant morbidity and mortality. The risk of GBS increases after delivery. Labor and delivery presents many possible risk factors for GBS. However, risk factors and prognosis of postpartum GBS remain unclear due to its low incidence. Here, we first present a patient with a history of postpartum GBS who returned for an elective repeat cesarean section (C-section). For her previous delivery, the patient received spinal anesthesia for an urgent C-section. She presented postpartum with jaw pain, facial palsy, respiratory difficulty, progressive bilateral lower extremity weakness, and areflexia. The diagnosis of GBS was confirmed by cerebrospinal fluid (CSF) examination, nerve conduction studies (NCS), and electromyography (EMG). Her symptoms of GBS improved after intravenous immunoglobulin (IVIG) treatment. The patient also had an Escherichia coli-positive urinary tract infection (UTI), which was treated with nitrofurantoin. For her repeat elective C-section, we performed a dural puncture epidural (DPE) anesthesia. After delivery, she was discharged to home uneventfully. She did not report any new neurological symptoms at her three-week follow-up. Here, we also review published cases of postpartum GBS and discuss peripartum anesthetic considerations for patients with GBS, aiming to inform clinical management of postpartum GBS in the future.

Spontaneous Coronary Artery Dissection: An Updated Comprehensive Review.

Spontaneous coronary artery dissection (SCAD) is defined as a non-iatrogenic, non-traumatic separation of the coronary artery wall, which has gained considerable recognition as an important cause of acute coronary syndrome. Despite the emerging evidence, it is still frequently missed and requires a high index of suspicion, as failure to accurately identify SCAD promptly could prove fatal. SCAD is most prevalent among middle-aged women, although it can also be found in men and postmenopausal women. Risk factors of SCAD include exogenous hormone use, physical and emotional stressors, pregnancy, and several inflammatory and connective tissue disorders. COVID-19 also contributes to the prevalence of SCAD. SCAD is classified into four main types based on the angiographic findings - type 1, type 2, type 3, and type 4. The gold standard for diagnosis is coronary angiography; however, intracardiac imaging is useful if diagnostic doubts persist. Despite the increasing recognition of this disease, there is a paucity in the guidelines on the management of SCAD. Management may be conservative, medical, or interventional. Cardiac rehabilitation is also necessary in the management of patients with SCAD. In light of the gaps in evidence, the authors aim to provide a comprehensive review of the existing literature, outlining the pathophysiology, classification, and, most importantly, the evidence and pitfalls circulating diagnosis, acute, and long-term management of SCAD.

Ventricular Tachycardia Crisis: Assessing Norepinephrine vs. Stress Steroids in the Battle Against Waterhouse-Friderichsen Syndrome With Distributive Shock.

Waterhouse-Friderichsen syndrome (WFS) is a rare but life-threatening complication associated with acute hemorrhagic necrosis of the adrenal glands, primarily linked to meningococcal infection. This report details the case of a 62-year-old female with HIV/AIDS and substance misuse who presented with ventricular tachycardia and hemodynamic instability. Subsequent evaluation revealed WFS in the context of disseminated meningococcal infection. The case highlights the diversity of WFS manifestations and the diagnostic challenges, particularly in patients with comorbidities. Managing WFS involves a delicate balance of steroids and vasopressors, necessitating a multidisciplinary approach. Timely diagnosis and intervention are critical in mitigating the high mortality associated with this syndrome.

Multidisciplinary Therapeutic Approach of a Patient With Sjogren's Syndrome: A Three-Year Follow-Up Study.

Sjögren's syndrome is a chronic, inflammatory autoimmune disorder characterized by lymphocyte infiltration of the exocrine glands. Notably, the rehabilitation of partially edentulous patients with Sjögren's syndrome is limited by the scarce availability of studies that could inform therapeutic modalities and potential challenges during clinical procedures. This case report aimed to present the oral rehabilitation of a patient with Sjögren's syndrome who received fixed partial dentures (FPDs). A 28-year-old female patient sought treatment to restore her missing teeth. She was diagnosed with Sjögren's syndrome by a rheumatologist adhering to the revised version of the European criteria proposed by the American-European Consensus Group and was on a medication regimen including prednisolone, hydroxychloroquine, pantoprazole, pilocarpine, and tear substitutes to manage her condition. The final treatment plan consisted of extractions, management of gingivitis, post-and-core restorations, and a 2 mm vertical dimension increase with the placement of 15 porcelain-fused-to-metal (PFM) crowns and 4 short-span bridges. The patient underwent regular clinical and radiographic evaluations every 3 months since June 2020. Throughout this period, the fixed prostheses, teeth, and periodontal tissues demonstrated remarkable stability and exhibited no complications. This three-year case study provides evidence that meticulous planning and clinical execution can facilitate successful oral rehabilitation in young edentulous patients with Sjögren's syndrome. Tooth-supported fixed prostheses can effectively restore oral function and aesthetic appeal in these individuals, provided they undergo more frequent dental examinations than the general population and maintain a cooperative attitude throughout the treatment process.

Extracorporeal Membrane Oxygenation (ECMO) Use as Supportive Therapy in a Patient With Acute Respiratory Distress Syndrome Due to Rupture of a Pulmonary Hydatid Cyst.

Pulmonary echinococcosis is a parasitic infection that accounts for 20% of the infected cases with echinococcosis. Patients may present after a cyst rupture associated with a variety of complications, including acute respiratory distress syndrome (ARDS). Extracorporeal membrane oxygenation (ECMO) is known as supportive therapy for patients with respiratory and cardiac failure, including ARDS associated with multiple causes. Parasitic infection associated with ARDS due to cyst rupture managed with ECMO as bridging to definitive surgical intervention is documented in two previous case reports only. Here, we are presenting a 21-year-old female with a pulmonary hydatid cyst complicated by ARDS and managed with ECMO.

Ayurvedic Herbal Medicines: A Literature Review of Their Applications in Female Reproductive Health.

Ayurveda, an ancient holistic and personalized healing system originating from the Indian subcontinent, has been gaining increasing attention as a complementary and alternative medical practice for treating various health conditions, including those related to women's reproductive well-being. This comprehensive literature review examines a wide array of experimental and clinical studies exploring the diverse facets of Ayurvedic interventions in addressing issues such as menstrual irregularities, polycystic ovary syndrome (PCOS), infertility, and menopausal symptoms. The paper specifically focuses on discussing the available data regarding the efficacy of Tulsi (Ocimum tenuiflorum), ashwagandha (Withania somnifera), ginger (Zingiber officinale), cardamom (Elettaria cardamomum), turmeric (Curcuma longa), and Shatavari (Asparagus racemosus), which have traditionally been used in Ayurvedic medicine for centuries. The synthesis of literature not only highlights the potential benefits of these Ayurvedic interventions, but also critically assesses the methodological rigor of existing studies, identifying research gaps, and proposing directions for future investigations. While acknowledging the need for further rigorous research and clinical trials, the review emphasizes the benefits of collaborative and integrative healthcare. This review aims to serve as a valuable resource for healthcare practitioners, researchers, and individuals seeking holistic and natural alternatives for female reproductive health management.

A Case Report of Conservatively Managed Boerhaave Syndrome.

Boerhaave syndrome is an esophagal perforation due to a rupture of the esophagus wall caused by intense vomiting with mediastinitis and subcutaneous emphysema. It is a relatively rare and potentially life-threatening ailment that requires prompt diagnosis and treatment. This case presents an overview of the syndrome, including morbidity, mortality, and treatment strategy. In this case, a 56-year-old male presented to the hospital during emergency hours with shortness of breath, chest pain, and dullness in the neck and a history of binge alcohol abuse seven days ago, followed by a severe bout of vomiting. The patient was managed conservatively, requiring another hospitalization for surgery, and was later discharged from the hospital postoperatively without any complications.

Effect of Consultation Number on the Assessment and Treatment of Polycystic Ovary Syndrome.

Background: The basic medical education stage is not enough to support physicians to fully diagnose and evaluate polycystic ovary syndrome (PCOS). The study aims to discover the difference in treatment choice between participants with different annual consultation number of PCOS, to promote lifelong learning, and drive balanced development within healthcare. Methods: This is a multicenter cross-sectional survey. Participants' basic information, knowledge of PCOS and treatment options were collected online. According to the annual consultation number of patients with PCOS, physicians were divided into three groups: 0-50 people/yr, 50-200 people/yr, and >200 people/yr, and the results were derived from χ2 test, Fisher exact test, and multivariate logistic regression analysis. Results: The study analyzed 1689 questionnaires, and 1206 physicians (71.4%) received less than 50 women per year, 388 physicians (30.0%) with an annual number of 50-200 women, and 95 physicians (5.6%) with patient turnover for more than 200 people. Reproductive endocrinologists generally have higher access to the clinic. As the number of visits increases, more and more physicians would perceive patients as more likely to have abnormal blood glucose and heavy weight. Physicians with large numbers of consultations are more likely to use Asian or Chinese standards to assess obesity. The multivariate analysis involved variables such as age, hospital level, specialty, and patient turnover annually, and more young doctors actively assessed lipid profile (odds ratio (OR) 1.56, 95% confidence interval (CI) (1.16, 2.16)), and primary hospitals (OR 0.65 CI (0.44, 0.89)) chose OGTT for blood glucose assessment less than tertiary hospitals. Physicians in secondary hospitals are more aggressive in evaluating androgens. Conclusion: Our survey found differences in endocrine assessment, metabolic screening, and treatment in PCOS women in terms of the number of obstetrician-gynecologists who received different patient consultation numbers. The importance of continuing education for physicians is emphasized, to promote lifelong learning.

Translation and Validation of the Premenstrual Assessment Form-Short Form Questionnaire in Hungarian.

Introduction: Premenstrual symptoms, including premenstrual syndrome and its more severe form premenstrual dysphoric disorder, are a set of somatic and psychological symptoms that occur during the luteal phase of the menstrual cycle. Our research aimed to adapt the Hungarian version of the Premenstrual Assessment Form-Short Form (PAF-SF), a questionnaire suitable for assessing premenstrual symptoms, and to examine its reliability, validity, and applicability. Methods: The questionnaire was validated according to Beaton's six-step guidelines. Our sample consisted of 198 menstruating women, 50 of whom completed the instrument for a second time to assess reliability. Descriptive statistics were calculated presenting mean (standard deviation), the internal consistency was measured by Cronbach's alpha value, the test-retest reliability using intraclass correlation coefficients, Spearman rank correlation was applied to test the criterion validity of the questionnaire, and discriminant validity was examined using the independent-sample t test using IBM SPSS 28.0 software. The structural validity was evaluated by confirmatory factor analysis (CFA) using IBM AMOS 29.0 software. The level of significance was set at p < 0.05. Results: Our sample (average age 25.37 ± 4.80 years) scored 28.08 ± 9.49 points out of the maximum 60 points when filling out the PAF-SF questionnaire. The result of Cronbach's alpha calculation, which supports the reliability of the questionnaire, was 0.845. During the CFA, the three-factor structure (Affect, Water Retention, and Pain) was supported (root mean-square error approximation [RMSEA] = 0.054; Tucker-Lewis Index = 0.965; Comparative Fit Index = 0.976; χ2 = 48.642; df = 31; p = 0.023; χ2/df = 1.569). Discussion: The PAF-SF questionnaire proved to be a reliable measuring tool for assessing premenstrual symptoms among women of reproductive age.

Potocki-Lupski Syndrome in Ethiopian Child: A Case Report.

Background: Potocki-Lupski syndrome (PTLS) is a rare developmental disorder resulting from the partial duplication of the short arm of chromosome 17. Affected children may have hypotonia, facial dysmorphism, or neurological abnormalities. Case Presentation: We present the case of a 5-year-old female patient from Ethiopia diagnosed with Potocki-Lupski syndrome (PTLS)(17p11.2 microduplication) through multiplex ligation-dependent probe amplification (MLPA) testing. This technique identified the duplication of regions of the 17p11.2 chromosome (RAI1, DRC3, USP22, COPS3 and LLGL1). The patient exhibited neurological manifestations including speech delay and mild intellectual disability, along with craniofacial dysmorphism characterized by a triangular face, wide forehead, dental malocclusion, and micrognathia. Conclusion: A multidisciplinary team approach is imperative for managing patients with PTLS. Parental counseling and genetic advice are crucial for families with children affected by PTLS.