Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes

ABSTRACT Objective: Congenital hypopituitarism (CH) is a rare disease characterized by one or more hormone deficiencies of the pituitary gland. To date, many genes have been associated with CH. In this study, we identified the allelic variant spectrum of 11 causative genes in Turkish patients with CH. Materials and methods: This study included 47 patients [21 girls (44.6%) and 26 boys (55.4%)] from 45 families. To identify the genetic etiology, we screened 11 candidate genes associated with CH using next-generation sequencing. To confirm and detect the status of the specific familial variant in relatives, Sanger sequencing was also performed. Results: We identified 12 possible pathogenic variants in GHRHR, GH1, GLI2, PROP-1, POU1F1, and LHX4 in 11 patients (23.4%), of which six were novel variants: two in GHRHR, two in POU1F1, one in GLI2, and one in LHX4. In all patients, these variants were most frequently found in GLI2, followed by PROP-1 and GHRHR. Conclusion: Genetic causes were determined in only 23.4% of all patients with CH and 63% of molecularly diagnosed patients (7/11) from consanguineous families. Despite advances in genetics, we were unable to identify the genetic etiology of most patients with CH, suggesting the effect of unknown genes or environmental factors. More genetic studies are necessary to understand the etiology of CH.

Algunas especificidades concernientes a las complicaciones quirúrgicas infecciosas en adultos mayores tras cirugía abdominal de urgencia

Introducción: El manejo del paciente geriátrico en cirugía siempre ha representado un gran desafío por considerarse de "alto riesgo". Objetivo: Describir las características clínicas, terapéuticas y epidemiológicas concernientes a las complicaciones quirúrgicas infecciosas en adultos mayores tras cirugía abdominal de urgencia. Métodos: Se realizó un estudio observacional analítico de casos y controles en pacientes adultos mayores que presentaron complicaciones quirúrgicas tras cirugía abdominal de urgencia en el período comprendido de 2019 hasta 2021 en el Servicio de Cirugía General del Hospital Provincial Saturnino Lora de Santiago de Cuba. Se trabajó con una muestra de casos complicados y otra de controles, representada por aquellos que no sufrieron complicaciones. Las variables analizadas fueron: edad, sexo, comorbilidades gérmenes aislados y tratamiento requerido. Resultados: Las complicaciones quirúrgicas en la cirugía abdominal urgente afectan fundamentalmente a pacientes adultos mayores en edades tempranas de ambos sexos con antecedentes de enfermedades endocrinas y/o cardiovasculares. La infección superficial y profunda del sitio quirúrgico es la complicación predominante. Los gérmenes más frecuentemente aislados fueron: Escherichia coli, Pseudomona aureoginosa y Klebsiella. El tratamiento farmacológico seguido del quirúrgico se utilizó en la mayoría de los enfermos para la solución de sus complicaciones. Conclusiones: Las comorbilidades constituyen el factor de riesgo principal para la aparición de complicaciones quirúrgicas infecciosas en adultos mayores, tras cirugía abdominal de urgencia con primacía de la infección superficial y profunda del sitio quirúrgico. Los gérmenes causales están en relación con la microbiota de la piel, donde se realiza la incisión, y la microbiota de los órganos donde se efectúa la intervención quirúrgica.

Introduction: The surgical management of the geriatric patient has always represented a great challenge because such is considered as "high risk." Objective: To describe the clinical, therapeutic and epidemiological characteristics concerning infectious surgical complications in older adults after emergency abdominal surgery. Methods: An analytical observational study of cases and controls was carried out with older adult patients who presented surgical complications after emergency abdominal surgery, in the period from 2019 to 2021, at the general surgery service of Hospital Provincial Saturnino Lora, of Santiago de Cuba. The study work was conducted with a sample of complicated cases and another sample of controls, the latter represented by those who did not suffer complications. The analyzed variables were age, sex, comorbidity, isolated germs and required treatment. Results: Surgical complications in emergency abdominal surgery affect mainly older adult patients at early ages, from both sexes and with a history of endocrine or cardiovascular diseases. Superficial and deep surgical-site infection is the predominant complication. The most frequently isolated germs were Escherichia coli, Pseudomona aureoginosa and Klebsiella. Pharmacological treatment followed by surgical treatment was used in most of the patients, with the aim of giving a solution to their complications. Conclusions: Comorbidity is the main risk factor for the appearance of infectious surgical complications in older adults after emergency abdominal surgery, primarily for superficial and deep surgical-site infection. The causal germs are related to the skin microbiota, according to the site where the incision is made, as well as the microbiota of the organs where the surgical intervention is performed.

CLINICAL PROFILE IN PATIENTS WITH CEREBRAL VENOUS SINUS THROMBOSIS IN TERTIARY CARE HOSPITAL: A CROSS SECTIONAL STUDY

CVST often creates challenges regarding diagnosis among physicians, due to the nonspeci?c symptoms and countless presentation and absence of uniform symptoms. This study aims to understand current knowledge about CSVT including its pathogenesis, etiogenesis, clinical profile, diagnosis, and treatment. A Methods: descriptive cross-sectional study was conducted in the department of neurology at tertiary care hospital, Mumbai between January, 2021 and June 2022. This study was approved by institutional ethics committee. All patients who were more than 18 years with diagnosis of cerebral venous sinus thrombosis, admitted to critical care unit of neurology department were included in this study and those with bleeding disorder and prior anticoagulation therapy, already diagnosed with CVST were excluded. CVST was 3 times more common in females than in m Results: ales and the age group of 21 to 30 years was more common affected. Headache was the most common symptom seen and papilledema was the most common sign. In females puerperium was the main cause of CVST. Superior sagittal sinus and right transverse sinus were the most common sinuses involved as seen on Computed tomography(CT)venography/Magnetic resonance venography(MRV)and common finding was venous infarct. The mortality rate was 16%. Patients with Isolated intracranial hypertension syndrome(ICH) had good outcome. Variables like age ?35 years, GCS score of <8 and coma at presentation were associated with poor prognosis. CVST has a wide range of cli Conclusion nical presentation. The prognosis is good in CVST but early diagnosis with treatment and care is required in patients with poor prognostic factors.

Double Outlet Right Ventricle Infective Endocarditis: A Rare Combination and a Therapeutic Challenge

Infective endocarditis involving the right side of the heart occurs rarely and often involves the tricuspid valve. The isolated pulmonary valve infective endocarditis (IPVIE) is a less common condition that occurs in specific population. The double outlet right ventricle (DORV) is an unusual congenital heart disease. The association of DORV and IPVIE darkens the prognosis. We report two cases of the association of DORV and IPVIE. The transthoracic echocardiography (TTE) is the base to the diagnosis. Right sided infective endocarditis in the lack of a guided strategy remains a therapeutic challenge.

Research progress of treatment options on spontaneous isolated superior mesenteric artery dissection based on computed tomography imaging classification / 中华消化外科杂志

Because of the low incidence rate, spontaneous isolated superior mesenteric artery dissection (SISMAD) is once considered as a rare disease. In recent years, with the widespread application of enhanced computed tomography (CT), reports of SISMAD have increased. At present, there is no consensus on the optimal treatment of SISMAD, and there are various imaging classifica-tions based on CT. However, clinical management strategy for SISMAD according to any imaging classification based on CT has not yet been acknowledged. Foreign scholars believe that conservative treatment can improve symptoms in most SISMAD patients, while Chinese scholars prefer endo-vascular intervention. The authors review the research progress of treatment options on SISMAD based on computed tomography imaging classification.

Aconite-isolated moxibustion at Yongquan (KI 1) combined with rivaroxaban for lower extremity venous thrombosis after total knee arthroplasty: a randomized controlled trial / 中国针灸

OBJECTIVE@#To investigate the clinical effect of aconite-isolated moxibustion at Yongquan (KI 1) combined with rivaroxaban for lower extremity venous thrombosis after total knee arthroplasty and the influence on hypercoagulation.@*METHODS@#Seventy-three patients of knee osteoarthritis with lower extremity venous thrombosis after total knee arthroplasty (KOA) were randomly divided into an observation group (37 cases, 2 cases dropped off) and a control group (36 cases, 1 case dropped off). The patients in the control group took orally rivaroxaban tablets, 10 mg a time, once a day. On the basis of the treatment as the control group, the aconite-isolated moxibustion was applied to Yongquan (KI 1) for the patients of the observation group, once daily and 3 moxa cones were used in each treatment. The duration of treatment was 14 days in both groups. Before treatment and 14 days into treatment, the ultrasonic B test was adopted to determine the conditions of lower extremity venous thrombosis in the two groups. Before treatment, 7 and 14 days into treatment, the coagulation indexes (platelet [PLT], prothrombin time [PT], activated partial prothrombin time [APTT], fibrinogen [Fib] and D-dimer[D-D]), the blood flow velocity of the deep femoral vein and the circumference of the affected side were compared between the two groups separately, and the clinical effect was evaluated.@*RESULTS@#Fourteen days into treatment, the venous thrombosis of the lower extremity was relieved in both groups (P<0.05), and that of the observation group was better than the control group (P<0.05). Seven days into treatment, the blood flow velocity of the deep femoral vein was increased compared with that before treatment in the observation group (P<0.05), and the blood flow rate in the observation group was higher than that in the control group (P<0.05). Fourteen days into treatment, PT, APTT and the blood flow velocity of the deep femoral vein were increased in the two groups compared with those before treatment (P<0.05); and PLT, Fib, D-D and the circumference of the limb (knee joint, 10 cm above the patella and 10 cm below the patella) were all reduced in the two groups (P<0.05). Compared with the control group 14 days into treatment, the blood flow velocity of the deep femoral vein was higher (P<0.05), PLT, Fib, D-D and the circumference of the limb (knee joint, 10 cm above the patella and 10 cm below the patella) were all lower in the observation group (P<0.05). The total effective rate was 97.1% (34/35) in the observation group, higher than 85.7% (30/35) in the control group (P<0.05).@*CONCLUSION@#Aconite-isolated moxibustion at Yongquan (KI 1) combined with rivaroxaban can effectively treat lower extremity venous thrombosis after total knee arthroplasty, relieve hypercoagulation, accelerate the blood flow velocity and alleviate swelling of the lower extremity in the patients with knee osteoarthritis.

Thoracic Endovascular Aortic Repair for Chronic Aortic Dissection with an Isolated Left Vertebral Artery / 日本心臓血管外科学会雑誌

Thoracic endovascular aortic repair (TEVAR) is valuable in the treatment of type B aortic dissection. An isolated left vertebral artery (ILVA) is a common anomaly of the aortic arch. The ILVA is covered during TEVAR in specific cases; however, whether the ILVA should be reconstructed in all cases remains controversial. We report a case of TEVAR performed for chronic aortic dissection in a patient with an ILVA. A 57-year-old woman with an ILVA had a type B acute aortic dissection one year prior to presentation and underwent TEVAR owing to dilation of an ulcer-like projection. We performed ILVA-left common carotid artery (LCCA) anastomosis and LCCA-left axillary artery bypass prior to TEVAR using our usual procedure. The postoperative course was favorable without any major complication. ILVA reconstruction may reduce the incidence of postoperative stroke and spinal cord injury. Usually, an ILVA is easily accessible through the supraclavicular approach, and the anatomical position of the vessel facilitates ILVA-LCCA anastomosis. ILVA reconstruction requires additional features and further consideration.

Comparison of acute kidney injury following brain death between male and female rats

Abstract Background Clinical reports associate kidneys from female donors with worse prognostic in male recipients. Brain Death (BD) produces immunological and hemodynamic disorders that affect organ viability. Following BD, female rats are associated with increased renal inflammation interrelated with female sex hormone reduction. Here, the aim was to investigate the effects of sex on BD-induced Acute Kidney Injury (AKI) using an Isolated Perfused rat Kidney (IPK) model. Methods Wistar rats, females, and males (8 weeks old), were maintained for 4h after BD. A left nephrectomy was performed and the kidney was preserved in a cold saline solution (30 min). IPK was performed under normothermic temperature (37°C) for 90 min using WME as perfusion solution. AKI was assessed by morphological analyses, staining of complement system components and inflammatory cell markers, perfusion flow, and creatinine clearance. Results BD-male kidneys had decreased perfusion flow on IPK, a phenomenon that was not observed in the kidneys of BD-females (p< 0.0001). BD-male kidneys presented greater proximal (p= 0.0311) and distal tubule (p= 0.0029) necrosis. However, BD-female kidneys presented higher expression of eNOS (p= 0.0060) and greater upregulation of inflammatory mediators, iNOS (p= 0.0051), and Caspase-3 (p= 0.0099). In addition, both sexes had increased complement system formation (C5b-9) (p=0.0005), glomerular edema (p= 0.0003), and nNOS (p= 0.0051). Conclusion The present data revealed an important sex difference in renal perfusion in the IPK model, evidenced by a pronounced reduction in perfusate flow and low eNOS expression in the BD-male group. Nonetheless, the upregulation of genes related to the proinflammatory cascade suggests a progressive inflammatory process in BD-female kidneys.

Isolated fallopian tube torsion in an early adolescent / Philippine Journal of Obstetrics and Gynecology

@#Isolated fallopian tube torsion is a rare but significant gynecological cause of lower abdominal pain in adolescent females with or without risk factors. A 12-year-old female was initially treated as urinary tract infection, acute appendicitis, and a possible ovarian pathology. Intraoperatively, it was isolated fallopian tube torsion. The entity is difficult to recognize preoperatively because of its vague clinical presentation and lack of specific laboratory and imaging findings, and diagnosis is done ultimately during surgery. Isolated tubal torsion should be considered in cases of acute lower abdominal pain since awareness and early detection of the condition, especially in children and adolescents, allows early surgical intervention that may render preservation of the tubes.

Rare Coincidence of Gallbladder Perforation in Blunt Traumatic Injury: A Case Report

@#Traumatic gallbladder perforation is an unusual but potentially life-threatening injury that can occur following blunt or penetrating abdominal trauma. A 46-year-old male presented to the emergency department following a motor vehicle accident (MVA). He complained of severe abdominal pain and sustained ecchymosis with localized tenderness over the right upper quadrant. Despite a positive focused assessment with sonography in trauma scan, initial computed tomography of the abdomen revealed grade 1 liver and splenic injury but was unable to identify gallbladder perforation. He was initially managed conservatively until he developed secondary signs of sepsis after 24 hours. An exploratory laparotomy revealed a perforated gallbladder. A subtotal cholecystectomy was done. A retrospective review revealed a missed gallbladder perforation from an earlier CT scan assessment. We report a case of missed gallbladder perforation following MVA which was only diagnosed intraoperatively after failing non-operative management, following which the patient underwent laparotomy and subtotal cholecystectomy.

Isolated ocular colobomas caused by a novel variant of the YAP1 gene / 中华眼底病杂志

Objective:To identify the causative gene and observe the phenotypic characteristics of a family with isolated microphthalmia-anophthalmia-coloboma (MAC).Methods:A retrospective clinical study. One patient (proband) and 3 family members of a family with MAC visited the Henan Eye Hospital from May 2019 to May 2022 were included in the study. The patient's medical history and family history were inquired in detail, and the best corrected visual acuity (BCVA), slit lamp microscope, fundus photography, optical coherence tomography (OCT), ophthalmological B mode ultrasound and axial length (AL) measurement were performed. The peripheral venous blood of the proband, his parents and brother was collected for Trio whole-exome sequencing and pathogenic gene screening. Fluorescence quantitative Polymerase chain reaction was used to verify the suspicious variations. The clinical features of the patient's ocular and systemic also were observed.Results:The proband, male, was 3 years old at the first visit. The horizontal pendular nystagmus was detected in both eyes. Vertical elliptical microcornea and keyhole-shaped iris colobomas were detected in both eyes. The objective refraction at first visit (3 years old) was -4.00 DS/-0.50 DC×105° (OD) and -3.50 DS/-1.25 DC×80° (OS). Refraction and BCVA at 6 years old: -6.50 DS/-2.00 DC×110°→0.05 (OD) and -6.00 DS/-1.50 DC×80°→0.2 (OS). The AL at 4 years and 10 months old was 24.62 mm (OD) and 23.92 mm (OS), respectively. The AL at 5 years and 7 months old was 25.24 mm (OD) and 24.36 mm (OS), respectively. Ultrasonography shows tissue defects in both eyes. Fundus photography showed the inferior choroidal coloboma involving optic disc. OCT showed the optic disc in both eyes was abnormal with colobomas around, and the retinal neurosensory layer in colobomas area was disordered and thin; the retinoschisis was visible in the left eye. The proband's parents and siblings have normal phenotypes. Whole exome sequencing reveals a denovo heterozygous deletion of YAP1 gene: YAP1, chr11: 10280247-102100671, NM_ 001130145, loss 1 (EXON: 6-9). The results of bioinformatics analysis were pathogenic variants. Parents and siblings were of the wild type. Conclusions:Loss of heterozygosity in exons 6-9 of YAP1 gene is the pathogenic variation in this family. It can cause abnormal development of anterior segment, chorioretinal colobomas, deepening of axial myopia, even severe macular colobomas and retinoschisis.

Recent advance in research on radiological isolated syndrome / 中华神经科杂志

Radiological isolated syndrome has been a hot topic in the field of neuroimmunology in recent years, but there were rare reports and reviews on this field in domestic literature. With the development of imaging technology and the proposed modified McDonald diagnostic criteria for multiple sclerosis in 2017, new perspectives have been proposed in diagnostic criteria, clinical research, functional imaging research and treatment strategies of radiological isolated syndrome. The purpose of this review is to improve the understanding of radiological isolated syndrome by sorting and summarizing the above contents.

Research progress on risk factors for radiologically isolated syndrome conversion and its clinical management / 中华神经科杂志

Radiologically isolated syndrome (RIS) is considered as an imaging marker of the prodromal stage of multiple sclerosis (MS), and approximately one-third of patients might convert to clinically isolated syndrome or clinically definite multiple sclerosis within 5 years after diagnosis. Although it still remains inconclusive whether or not disease-modifying therapies for RIS need to be initiated, effective identification of prognostic factors for conversion would be of great benefit for early screening of high-risk patients and subsequent clinical precision management. Combined with the latest research progress at home and abroad, this review summarizes the prognostic factors for conversion of RIS to MS from the aspects of demographic characteristics, clinical presentations, imaging manifestations, cerebrospinal fluid and ophthalmological examinations. Given that disease-modifying therapies for RIS are still in clinical research stage and there are no definite recommendations to date, this article expounds the research progress on clinical monitoring, therapeutics and prevention of disease progression, which aims to provide neurologists with reference suggestions on clinical management of RIS.

Isolated Extramedullary Relapse in the Gastrointestinal Mucosa of a Patient with T cell Lymphoblastic Lymphoma

An unusual case of extramedullary relapse in a known case of T cell lymphoblastic lymphoma is presented here. The patient is a 24-year-old girl diagnosed with T cell lymphoblastic lymphoma in June 2020. The patient th showed extramedullary relapse in the gastrointestinal mucosa without bone marrow recurrence whilst on the 6 month of BFM (Berlin Frankfurt Munster) -90 maintenance. Isolated gastrointestinal infiltrate is unusual at presentation or relapse of T cell lymphoblastic lymphoma. While on BFM-90 maintenance, she presented with multiple vomiting and abdominal pain episodes. Upper gastrointestinal scopy revealed multiple gastric ulcers, with morphology and immune-phenotyping identical to her initial T cell lymphoblastic lymphoma. We could not find evidence of leukaemic activity in the blood, cerebrospinal fluid or bone marrow. Several types of leukemic infiltrates have been recognised at post-mortem examination; the fact that makes our case is unique is T cell lymphoblastic lymphoma presenting as an isolated malignant ulcer, which to the best of our knowledge, has not been reported. We conclude that relapsed T cell lymphoblastic lymphoma may present with gastrointestinal infiltration. Further investigations are warranted to establish the same

Sobrecrecimiento lateral aislado - caracterización auxológica y clínico-radiológica de una cohorte de 76 casos de un único centro / Isolated lateralized overgrowth: clinical, radiological, and auxological characteristics of a single-site cohort of 76 cases

Introducción. El sobrecrecimiento lateral aislado (SLA), antes denominado hemihiperplasia/ hemihipertrofia, se refiere al sobrecrecimiento corporal lateral en ausencia de un patrón reconocible de malformaciones o síndromes genéticos. El objetivo fue analizar el crecimiento y las características clínico-radiológicas de pacientes con SLA en seguimiento en un hospital de tercer nivel en Argentina entre 1993 y 2020. Población y métodos. Estudio retrospectivo, observacional, de una cohorte de pacientes con SLA. Resultados. Se incluyeron 76 casos, 41 varones. Mediana de años de seguimiento: 5,85 (rango intercuartílico [RIC] 2,60-10,96), máximo 15,76 años. Cuarenta y ocho de 76 pacientes presentaron sobrecrecimiento en más de un segmento corporal (SLA complejo). El puntaje Z promedio de peso al nacer de niñas de término con SLA complejo fue +0,51 (desviación estándar [DE] 0,91) (p 0,022). El crecimiento en estatura de la mayoría de los niños se ubicó entre los centilos 50 y 97 de la población de referencia. La mediana de asimetría de longitud de miembros inferiores fue 1,5 cm (RIC 1,01-2,2) en pacientes con tratamiento médico y 3,70 cm (RIC 2,953,98 cm) en aquellos que requiriero epifisiodesis. El 75 % mostró una progresión de la asimetría menor o igual a 2 cm. Ocho casos presentaron asimetría renal mayor o igual a 1 cm; 2 casos presentaron nefroblastoma: edad promedio al diagnóstico 0,75 años. Conclusiones. El crecimiento prenatal de niños con SLA es normal, excepto en niñas con SLA complejo en quienes tiende a estar aumentado. La estatura promedio se ubica en centilos altos con crecimiento normal. Se recomienda realizar cribado de tumores embrionarios en este grupo de niños.

Introduction. Isolated lateralized overgrowth (ILO), formerly referred to as hemihyperplasia/hemihypertrophy, is the overgrowth of one-half of the body to its contralateral in the absence of a recognizable pattern of malformations or genetic syndromes. Our objective was to analyze the growth clinical and radiological characteristics of patients with ILO under follow-up in a tertiary care hospital in Argentina between 1993 and 2020. Population and methods. Retrospective, observational, single cohort study of patients with ILO. Results. A total of 76 cases were included; 41 were males. Median years of follow-up: 5.85 (interquartile range [IQR]: 2.60­10.96), maximum: 15.76 years. Forty-eight of 76 patients had overgrowth compromising more than 1 body segment (complex ILO). The mean birth weight Z-score of term girls with complex ILO was +0.51 (standard deviation [SD]: 0.91) (p 0.022). Most children grew between the 50th and 97th centile of the Argentinian population height reference. The median leg length discrepancy was 1.5 cm (IQR: 1.01­2.2) in patients receiving medical treatment and 3.70 cm (IQR: 2.95­3.98 cm) in those who required epiphysiodesis. Progression of discrepancy ≤ 2 cm was observed in 75% of cases. Renal asymmetry ≥ 1 cm was observed in 8 cases; Wilms tumor was noted in 2 cases: mean age at diagnosis: 0.75 years. Conclusions. Prenatal growth of children with ILO is normal, except in girls with complex ILO, in whom it tends to be increased. The average height of boys and girls tends to be located in high centiles with normal growth over time. Embryonal tumor screening is recommended in this group of children.

Crigler-Najjar Syndrome Type 2 in an Adult: A Rare Presentation

Introduction: Crigler-Najjar syndrome type 2 (CNS type 2) is a rare disorder that causes elevated levels of bilirubin in the blood (nonhemolytic unconjugated hyperbilirubinemia). The main symptom of CNS type 2 is persistent jaundice. It is caused by genetic changes in the UGT1A1 gene and the inheritance is autosomal recessive. Genetic testing of the UGT1A1 gene for mutations is the diagnostic clincher. We report one such rare case. Case report: A 75-year-old male presented with history of right-sided weakness with right-sided facial weakness, MRI brain revealed an infarct in the left side of brain with general physical findings suggestive of icterus. Conclusion: Diagnosing and managing these patients may be challenging. Our aim is to draw attention of the treating physicians towards this disease with the help of this case report.

Origanum vulgare essential oil and carvacrol: natural alternatives against resistant bacteria / Óleo essencial de origanum vulgare e carvacrol: alternativas naturais contra bactérias resistentes / El aceite esencial de origanum vulgare y el carvacrol: alternativos naturales contra las bacterias resistentes

Bacteria that are resistant to several antibiotics are a serious One Health problem, as new alternatives for treatment do not appear at the same speed. Thus, the aim of this work was to carry out a survey of studies involving the activity of the essential oil of O. vulgare and its isolated compound carvacrol on antibiotic-resistant bacteria. To this end, a qualitative review of the literature was carried out in the PubMed database from 2015 to 2020. Both for the essential oil and for the isolated compound, the inhibitory action extends to strains often associated with difficult-to-treat infections such as oxacillin and vancomycin-resistant Staphylococcus aureus, ß-lactamase-producing strains, carbapenemases, among others. The point that distinguishes the studies is the type of methodology used in the tests, with studies with carvacrol more directed towards mechanisms of molecular action and application in cells and animals, while those with oils are more preliminary. Although these substances have potential to control resistant bacteria, more research is needed to enable their use.

Bactérias resistentes a vários antibióticos são um grave problema para a Saúde Única, pois novas alternativas de tratamento não aparecem na mesma velocidade. Assim, o objetivo deste trabalho foi realizar um levantamento de estudos envolvendo a atividade do óleo essencial de O. vulgare e seu composto isolado, carvacrol, sobre bactérias resistentes a antibióticos. Para tanto, foi realizada uma revisão qualitativa da literatura na base de dados PubMed no período de 2015 a 2020. Tanto para o óleo essencial quanto para o composto isolado, a ação inibitória se estende a cepas frequentemente associadas a infecções de difícil tratamento como Staphylococcus aureus resistente à oxacilina e vancomicina, cepas produtoras de ß-lactamase, carbapenemases, entre outras. O ponto que diferencia os estudos é o tipo de metodologia utilizada nos testes, sendo os estudos com carvacrol mais direcionados para mecanismos de ação molecular e aplicação em células e animais, enquanto os com óleos são mais preliminares. Embora essas substâncias tenham potencial para controlar bactérias resistentes, mais pesquisas são necessárias para viabilizar seu uso.

Las bacterias resistentes a diversos antibióticos son un grave problema para la Sanidad Única, ya que las nuevas alternativas de tratamiento no aparecen a la misma velocidad. Así pues, el objetivo de este trabajo fue realizar una encuesta sobre los estudios relativos a la actividad del aceite esencial de O. vulgare y su compuesto aislado, el carvacrol, sobre las bacterias resistentes a los antibióticos. Para ello, se realizó una revisión bibliográfica cualitativa en la base de datos PubMed en el periodo comprendido entre 2015 y 2020. Tanto para el aceite esencial como para el compuesto aislado, la acción inhibidora se extiende a cepas frecuentemente asociadas a infecciones de difícil tratamiento como el Staphylococcus aureus resistente a la oxacilina y a la vancomicina, cepas productoras de ß-lactamasas, carbapenemasas, entre otras. El punto que diferencia los estudios es el tipo de metodología utilizada en las pruebas, siendo los estudios con carvacrol más dirigidos a mecanismos de acción molecular y aplicación en células y animales, mientras que los de aceites son más preliminares. Aunque estas sustancias tienen potencial para controlar las bacterias resistentes, es necesario seguir investigando para que su uso sea viable.

Aneurisma verdadero aislado en arteria femoral superficial asociado a síndrome del dedo azul / True isolated aneurysm in superficial femoral artery associated with blue finger syndrome

Los aneurismas femorales son raros y más aún en la arteria femoral superficial. Estos representan solo el 3 por ciento de todos los aneurismas periféricos. El objetivo de este trabajo fue presentar el caso de un aneurisma verdadero aislado en arteria femoral superficial asociado a síndrome del dedo azul. Se reporta un paciente masculino de 75 años, fumador, con antecedentes patológicos personales de hipertensión arterial, que llega remitido con urgencia desde su área de salud por presentar cambios de coloración (cianosis), frialdad y dolor en la planta y los dedos del pie derecho (microembolias distales). En la tomografía computarizada contrastada se observó aneurisma aislado en la arteria femoral superficial de 4,5 cm de diámetro transversal. Se decidió operar al paciente y se realizó aneurismectomía con interposición de injerto protésico con politetrafluoroetileno, con una configuración de anastomosis término-terminal. Tuvo una evolución clínica posoperatoria inmediata y tardía satisfactoria. Entre los aneurismas femorales, los que afectan a la arteria femoral superficial están menos descritos y pueden complicarse con trombosis, embolización distal o rotura. Existe un alto consenso para su reparación, al eliminar la fuente embólica, prevenir la trombosis, tratar la rotura, eliminar cualquier efecto de masa y restaurar la perfusión de la extremidad distal. Dado que el síndrome del dedo azul puede ser la primera manifestación de esta enfermedad, su rápido reconocimiento, diagnóstico precoz de la fuente embolígena y tratamiento médico-quirúrgico pueden evitar la amputación mayor o la muerte del paciente(AU)

Femoral aneurysms are rare and even more so in the superficial femoral artery. These account for only 3 percent of all peripheral aneurysms. The objective of this study was to present the case of an true isolated aneurysm in the superficial femoral artery associated with blue finger syndrome. A 75-year-old male patient, smoker, with a personal pathological history of arterial hypertension, is reported to be urgently referred from his health area for presenting changes in coloration (cyanosis), coldness and pain in the sole and toes of the right foot (distal microembolisms). The contrasted computed tomography showed an isolated aneurysm in the superficial femoral artery of 4.5 cm transverse diameter. It was decided to operate on the patient and aneurysmectomy was performed with interposition of prosthetic graft with polytetrafluoroethylene, with a configuration of termino-terminal anastomosis. He had a satisfactory immediate and late postoperative clinical evolution. Among femoral aneurysms, those affecting the superficial femoral artery are less described and can be complicated by thrombosis, distal embolization, or rupture. There is a high consensus for their repair by removing the embolic source, preventing thrombosis, treating rupture, eliminating any mass effects and restoring perfusion of the distal limb. Since blue finger syndrome may be the first manifestation of this pathology, its rapid recognition, early diagnosis of the emboligenic source and medical-surgical treatment can prevent major amputation or death of the patient(AU)

Complete and incomplete lower motor neuron facial palsy in post-COVID-19 mucormycosis

Purpose: To study facial nerve palsy (FNP) in post?COVID?19?mucormycosis patients and its ocular complications, report different presentations of FNP in such patients, and propose its etiopathogenesis based on presentation and clinico?radiologic localization. Methods: A prospective cohort study was carried out in patients of post?COVID?19?mucormycosis who presented at our tertiary center, over a period of 3 months. Motor and sensory examination of the facial nerve was done to diagnose FNP and localize the lesion clinically. Slit?lamp examination was done for grading corneal involvement. MRI brain, orbit, and paranasal sinuses (PNS) with contrast were studied to find involvement along the facial nerve. It was assessed whether this site of lesion corresponded with clinical localization. Data were analyzed using the percentage of total cases and Fisher抯 test. Results: A total of 300 patients with post?COVID?19 mucormycosis were examined, of which 30 (10%) patients were found to have FNP. All were lower motor neuron (LMN) type and were associated with corneal complications. The most common site clinically was distal to the chorda tympani (66.66%) and radiologically was infratemporal (IT) fossa (63.4%). The clinical localization significantly correlated with the radiological findings (P = 0.012). Twenty percent of patients showed incomplete involvement of facial muscles. Conclusion: FNP was found to be of LMN type. The most common site of insult was IT fossa. There was a good clinico?radiological correspondence of lesions. Isolated lesions were also found along the peripheral nerve course, presenting as incomplete facial palsy. Recognition of FNP in post?COVID?19 mucormycosis, in all its variable forms, is important to manage corneal complications