TEK gene-related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families.

Primary congenital glaucoma (PCG) is one of the leading causes of visual damage and blindness, severely affecting the quality of life of affected children. It is characterized by cupping of the optic disc and loss of ganglion cells due to elevated intraocular pressure. While most PCG patients exhibit epiphora, photophobia, and buphthalmos with corneal opacity, variability in phenotypic manifestations is not uncommon. Prompt diagnosis and treatment of PCG affected individuals becomes relevant to preserve visual function throughout their lives. Most PCG cases are sporadic or autosomal recessive; however, an incompletely dominant autosomal dominant form arising from mutations in the TEK gene has recently been demonstrated. Here, we describe the clinical and mutational features of a cohort of Mexican patients with TEK-related PCG. Our results support the involvement of the TEK gene as an important cause of the disease in our ethnic group and expand the mutational spectrum causing PCG by reporting 10 novel disease-causing variants.

Quality indicators and satisfaction with care in patients with systemic lupus erythematosus.

Grading the quality of care in patients with systemic lupus erythematosus and determining its relationship with care satisfaction may recognize gaps that could lead to better clinical practice. Eighteen quality indicators (QIs) were recently developed and validated for patients with SLE based on the 2019 EULAR management recommendations. Few studies have analyzed the relationship between quality of care and care satisfaction in patients with lupus. This was a cross-sectional study. We included patients at least 18 years old who met the EULAR/ACR 2019 classification criteria for SLE. We interviewed patients and retrieved data from medical records to assess their compliance with a set of 18 EULAR-based QIs. We calculated each QI fulfillment as the proportion of fulfilled QI divided by the number of eligible patients for each indicator. Care satisfaction was evaluated with the satisfaction domain of LupusPRO version 1.7. Spearman correlation coefficient was used to determine the relationship between quality of care and care satisfaction. Seventy patients with a median age of 33 (IQR 23-48) were included, 90% were women. Overall adherence was 62.29%. The median care satisfaction was 100. Global adherence to the 18-QIs and the care satisfaction score revealed no correlation (r = 0.064, p = 0.599). Higher QI fulfillment was found in the group with remission versus the moderate-high activity group (p = 0.008). In our study, SLE patients in remission had higher fulfillment of quality indicators. We found no correlation between the quality of care and satisfaction with care.

Anagen Effluvium after Neurointerventional Radiation: Trichoscopy as a Diagnostic Ally.

Minimally invasive procedures for vascular brain lesions are being performed more frequently. Radiation exposure caused by endovascular embolization of cerebral aneurysms may give rise to nonscarring scalp alopecia located in the treated area. Clinical and trichoscopic features of this type of alopecia are similar to alopecia areata (AA). Herein, we performed a comprehensive review to describe the clinical and trichoscopic characteristics of radiation-induced anagen effluvium. Predominant trichoscopic findings include black dots, yellow dots, short vellus hairs, and absence of exclamation marks hairs. It is important to consider this diagnosis in patients who have recently undergone such procedures that can easily be misdiagnosed as AA.

Anatomical variations of the sacro-iliac joint: a computed tomography study.

PURPOSE: To identify, describe, and compare the prevalence of sacroiliac joint anatomical variants. METHODS: A retrospective study was performed on computed tomography scans. Joint space was measured, and variants were classified as accessory joint, ileosacral complex, bipartite bony plate, semicircular defect, iliac bony plate, and ossification centers. RESULTS: 400 scans were analyzed. Mean age was 49 years, 180 men (45%), and 220 women (55%). 209 (52.2%) patients presented an anatomical variant with higher prevalence in women (65.4% vs 36.2%), and those older than 40 years of age (60% vs 40%). Mean joint space was similar bilaterally (right 2.41 ± 0.65 mm vs. left 2.37 ± 0.65 mm). Prevalence was: 19.8% accessory joint, 6.5% ileosacral complex, 12.3% bipartite bony plate, 8% semicircular defect, 5% iliac bony plate, and 0.8% for ossification centers. CONCLUSION: Prevalence of anatomical variants of the SIJ is higher in the Hispanic population, women, and those older than 40 years.

Exploratory study on the presence of bisphenol A and bis(2-ethylhexyl) phthalate in the Santa Catarina River in Monterrey, N.L., Mexico.

The current problem related to the supply of drinking water for the metropolitan area of Monterrey, which comprises of five million inhabitants, and the important role played by the El Cuchillo Dam, found downstream of the Santa Catarina River basin as a surface source of drinking water for the city, renders this river an interesting site for assessment. This work evaluates the degree to which the surface water and the subsoil of the river are affected by emerging organic pollutants due to their existence, even at low concentrations, representing a toxic risk enhanced by the absence of stricter standards for regulating these substances. Based on fieldwork, three discharge points that could affect the quality of the surface water were selected: two points on the river stream, and three groundwater wells. Gas chromatography results showed the presence of BisPhenol A (BPA) and bis(2-EthylHexyl) Phthalate (DEHP) in both the surface water and subsoil at different seasons of the year. The highest concentration levels in the samples taken from both types of water were 0.9 and 60 µg L-1 for BPA and DEHP, respectively. Results of this research did not reveal the level at which the aquifer is affected by these substances.

The Use of Clinical Reasoning Skills in the Setting of Uncertainty: A Case of Trial Femoral Head Migration.

Clinical skills and medical knowledge enable physicians to overcome the uncertainty of emergent and rare clinical scenarios. Recently, a growing emphasis on evidence-based medicine (EBM) has flooded medical curricula of universities across the globe with guideline-based material, and while it has given teachers and students new tools to improve medical education, clinical reasoning must be reaffirmed in its capacity to provide physicians with the ability to solve unexpected clinical scenarios. Anatomical education in medical school should have two main objectives: to acquire anatomical knowledge and to develop the skill of applying that knowledge in clinical scenarios. The authors present a clinical scenario in which an unexpected and rare complication occurred during a routine elective hip replacement surgery. The general surgeon presiding over the case, also an anatomy professor, solved the problem using clinical reasoning and anatomical knowledge. It was a clear example of how clinical reasoning is key in approaching unprecedented, rare, or unknown complications. The intention of this scenario is to remind colleagues and medical schools that, although EBM is the standard, educators must uphold sound clinical reasoning to best prepare health care providers for their careers.

Note: Manipulation of supersonic atomic beams with static magnetic fields.

The inhomogeneous magnetic field of a permanent-magnet planar Halbach array is used to either deflect or to specularly reflect a supersonic beam of neutral atoms. Metastable neon and helium beams are tested to experimentally evaluate the performance of this array in a range of configurations. Results are compared with numerical simulations and the device is presented as a high precision tool for the manipulation of neutral atom beams.

Nanoscale imaging of neutral atoms with a pulsed magnetic lens.

We present a scheme for imaging of neutral atoms to the nanoscale with a pulsed magnetic lens and show its viability through numerical calculations. This scheme achieves focal lengths on the order of several centimeters and focal spots of less than 10 nm. With these results, it is possible to create sub-10 nm structures on surfaces in a parallel and time-efficient manner. When used with metastable noble gas atoms, and in combination with electron spectroscopy, this scheme can create a chemically sensitive microscope which can probe surfaces on the nanometer scale.

Experiencia del tratamiento de espondilolistesis lumbar degenerativa de un solo segmento con espaciador interespinoso / Experiência no tratamento de espondilolistese lombar degenerativa de um só segmento por meio de espaçador interespinhal / Experience in the treatment of degenerative lumbar spondylolisthesis of just one segment using in interspinous implant

OBJETIVO: Evaluar a un año el resultado del uso de espaciadores dinámicos en listésis grado I de Meyerding utilizando la escala de incapacidad de Oswestry. MÉTODOS: Se revisa el historial electrónico y radiográfico de los pacientes según criterios en el período de enero 2008 a diciembre 2010, con el propósito de realizar un estudio de cohortes, retrospectivo, longitudinal y observacional. RESULTADOS: El Oswestry prequirúrgico fue de 3.4% leve, 55.2% moderado y 41.4% severo; mientras que el posquirúrgico fue de 79.3% leve y 20.7% moderado. La cirugía realizada más común fue exploración y liberación con un 72.4%, presentando discectomía únicamente el 27.6%. Los pacientes presentaron dolor irradiado a miembro pélvico derecho en el 37.9%, miembro pélvico izquierdo 44.8% y a ambos miembros pélvicos en un 17.2%. Se presentó dolor posquirúrgico irradiado a miembro pélvico únicamente en el 2.4% siendo que el 100% de los casos presentaron algún tipo de dolor irradiado. Se utilizó espaciador DIAM en 79.3% y Wallis en 20.7% CONCLUSIONES: El tratamiento con espaciador interespinoso presenta un bajo índice de reintervención y por lo menos a un año presenta mejoría significativa en el índice de incapacidad.

OBJETIVO: Avaliar o resultado em ano do uso de espaçadores dinâmicos em listese de grau I de Meyerding, utilizando a escala de incapacidade de Oswestry. MÉTODOS: Foi revisado o prontuário eletrônico e as radiografias dos pacientes, de acordo com os critérios, no período de janeiro de 2008 a dezembro de 2010, visando realizar um estudo de coortes, retrospectivo, longitudinal e observacional. RESULTADOS: O índice de Oswestry pré-cirúrgico foi de 3,4% leves, 55,2% moderados e 41,4% graves, enquanto o pós-cirúrgico foi de 79,3% leves e 20,7% moderados. A cirurgia mais realizada foi exploração e liberação, em 72,4%, sendo que 27,6% apresentaram apenas discectomia. Os pacientes tinham dor irradiada para o membro inferior direito em 37.9%, para o membro inferior esquerdo em 44,8% e para ambos os membros inferiores, em 17,2%. Verificou-se dor pós-operatória irradiada para o membro inferior só em 2,4%, sendo que 100% dos casos tinham algum tipo de dor irradiada. Foi empregado o espaçador DIAM em 79.3% e o Wallis em 20.7% CONCLUSÕES: O tratamento com espaçador interespinhoso apresenta baixo índice de re-intervenção e pelo menos em um ano, apresenta melhora significante do índice de incapacidade.

OBJECTIVE: To evaluate one-year results of using dynamic spacers in listhesis grade I of Meyerding using Oswestry Disability Index. METHODS: The disability scale review was based in the electronic and radiographic history of patients according to criteria in the period from January 2008 to December 2010, in order to conduct a cohort study, retrospective, longitudinal, and observational. RESULTS: The Oswestry index before surgery was 3.4% mild, 55.2% moderate and severe 41.4%, while the postoperative was 79.3% mild and 20.7% moderate. The most common surgery performed was exploration and release in 72.4%, and only 27.6% had discectomy. Patients had pain radiating to right lower limb in 37.9%, to the left lower limb in 44.8% and to both lower extremities in 17.2%. Pain radiating to the lower limb after surgery was found only in 2.4%, and 100% of the cases had some type of radiating pain. The DIAM interspinous implant was used in 79.3%, and the Wallis in 20.7%. CONCLUSIONS: Treatment with interspinous spacer has a low rate of reoperation and at least during one year presented significant improvement in the rate of disability.

Frecuencia de alergenos en las respuestas alérgicas cutáneas tipo inmediata, tardía y dual en el Instituto Nacional de Pediatría / The allergens more frecuently found in the early, late and dual response in Instituto Nacional de Pediatría

Se estudiaron 126 niños con enfermedad alérgica, que acudieron al servicio de alergias del Instituto Nacional de Pediatría (INP), a quienes se les hicieron pruebas cutáneas: inmediata, tardía y dual. Los resultados obtenidos mostraron que 68 por ciento presentó respuesta inmediata (RI), 6 por ciento respuesta tardía aislada y 26 por ciento respuesta dual. Los alergenos que con más frecuencia se encontrarón, tanto en la respuesta cutánea inmediata como tardía fueron Dermatophagoides pteronyssinus, Dermatophagoides farinae y polvo casero. Aproximadamente la tercera parte de los pacientes estuadiados presentaron respuesta cutánea tardía (respuesta dual, más respuesta tardía aislada), por lo que en la evaluación de un paciente alérgico se debe valorar la respuesta cutánea tardía para un mejor diagnóstico etiológico