Síndrome de Wildervanck: reporte de un caso clínico / Wildervanck syndrome: clinical case report

El síndrome de Wildervanck (cérvico-óculo-acústico) es una patología muy rara, caracterizada por la tríada clásica de fusión de vértebras cervicales o anomalía de Klippel-Feil, síndrome de Duane (paresia del VI par craneal) e hipoacusia. Se han descrito, además, otras afecciones a nivel vascular, cardíaco y musculoesquelético. En este caso clínico, describimos a una paciente que cumple la tríada cardinal, además de presentar datos clínicos adicionales que no han sido reportados con anterioridad, lo cual contribuye a la ampliación del fenotipo de la enfermedad. Asimismo, realizamos una revisión de la literatura respecto a este síndrome

Wildervanck syndrome (also known as cervico-oculo-acoustic dysplasia) is a very rare disease, characterized by the typical triad of cervical vertebral fusion or Klippel-Feil anomaly, Duane syndrome (paresis of the sixth cranial nerve), and hearing loss. Other vascular, cardiac, and musculoskeletal conditions have also been described. In this case report, we describe a patient who met the cardinal triad and also presented additional clinical data that have not been previously reported, which contribute to broadening the disease phenotype. We have also reviewed the bibliography related to this syndrome.

Wildervanck syndrome: clinical case report. / Síndrome de Wildervanck: reporte de un caso clínico.

Wildervanck syndrome (also known as cervico-oculo-acoustic dysplasia) is a very rare disease, characterized by the typical triad of cervical vertebral fusion or Klippel-Feil anomaly, Duane syndrome (paresis of the sixth cranial nerve), and hearing loss. Other vascular, cardiac, and musculoskeletal conditions have also been described. In this case report, we describe a patient who met the cardinal triad and also presented additional clinical data that have not been previously reported, which contribute to broadening the disease phenotype. We have also reviewed the bibliography related to this syndrome.

El síndrome de Wildervanck (cérvico-óculo-acústico) es una patología muy rara, caracterizada por la tríada clásica de fusión de vértebras cervicales o anomalía de Klippel-Feil, síndrome de Duane (paresia del VI par craneal) e hipoacusia. Se han descrito, además, otras afecciones a nivel vascular, cardíaco y musculoesquelético. En este caso clínico, describimos a una paciente que cumple la tríada cardinal, además de presentar datos clínicos adicionales que no han sido reportados con anterioridad, lo cual contribuye a la ampliación del fenotipo de la enfermedad. Asimismo, realizamos una revisión de la literatura respecto a este síndrome.

La displasia del desarrollo de la cadera puede predisponer a osteoartritis: de la inflamación a la destrucción. Revisión de la literatura / Developmental dysplasia of the hip may predispose to osteoarthritis: From inflammation to destruction. A literature review

Introducción. La displasia del desarrollo de la cadera (DDC) abarca un conjunto de anormalidades relacionadas con el proceso de maduración del acetábulo y del tercio proximal del fémur Si no se trata de manera adecuada y oportuna, los pacientes con esta condición pueden desarrollar osteoartritis (OA) eventualmente.Objetivo. Recopilar y sintetizar evidencia científica publicada entre enero de 2000 y febrero de 2023 sobre la fisiopatología de la DDC y su relación con el desarrollo de OA de cadera en términos de los mecanismos fisiopatológicos genéticos, inflamatorios e inmunológicos. Materiales y métodos. Se realizó una revisión de la literatura en bases de datos de literatura biomédica (PubMed/Medline, Embase, SciELO) y herramientas bioinformáticas (e-Ensambl, STRING), mediante términos como "displasia de cadera", "osteoartritis", "etiología" y "genes". Se incluyeron estudios observacionales clínicos y genéticos realizados en humanos.Resultados. La búsqueda inicial arrojó 349 registros, de los cuales 23 cumplieron los criterios de elegibilidad. Los genes que interactúan con módulos genéticos parecen participar en el desarrollo articular y la etiología de las enfermedades relacionadas con el cartílago y el hueso; sin embargo, la inestabilidad mecánica producida por la DCC activa factores inflamatorios e inmunológicos, predisponiendo OA. A partir de la información encontrada, se puede considerar que existe una relación muy estrecha entre DDC y OA.Conclusiones. Conocer los mecanismos fisiopatológicos genéticos, inflamatorios e inmunológicos de DDC y OA favorece la realización de un diagnóstico oportuno y, en consecuencia, posibilita brindar un tratamiento adecuado para disminuir y controlar el daño a largo plazo y mejorar la calidad de vida del paciente

Introduction: Developmental dysplasia of the hip (DDH) encompasses a set of abnormalities related to the maturation process of the acetabulum and the proximal third of the femur. If not treated properly and promptly, patients with this condition may eventually develop osteoarthritis (OA).Objective: To compile and synthesize scientific evidence published between January 2000 and February 2023 on the pathophysiology of DDH and its relationship to the development of hip OA in terms of genetic, inflammatory and immunological pathophysiological mechanisms.Methodology: A literature review was performed in biomedical literature databases (PubMed/Medline, Embase, SciELO) and bioinformatic resources (e-Ensambl, STRING), using terms such as "hip dysplasia", "osteoarthritis", "etiology", and "genes". Clinical and genetic observational studies involving human subjects were included.Results: The initial search yielded 349 records, of which 23 met the eligibility criteria. Genes that interact with genetic modules may play a role in the development of joints and the etiology of diseases that affect the bones and cartilage; however, the mechanical instability caused by DDH activates inflammatory and immunological factors, predisposing to OA. Based on the information obtained, it is possible to consider that there is a very close relationship between DDH and OA.Conclusions: Knowing the genetic, inflammatory and immunological pathophysiological mechanisms of DDH and OA favors timely diagnosis and, consequently, allows providing proper treatment to reduce and control long-term damage and improve the patient's quality of life

Síndrome de Sjögren-Larsson: Reporte de caso pediátrico / Sjögren-Larsson syndrome: Pediatric case report

El síndrome de Sjogren-Larsson se caracteriza por retardo mental, ictiosis congènita y diplejía o cuadriplejía espástica. El defecto primario en este síndrome es la mutación del gen ALDH3A2, que codifica la enzima aldehído deshidrogenasa grasa y causa una deficiencia enzimática que produce una acumulación de alcoholes y aldehídos grasos en los tejidos que comprometen la integridad de la membrana celular, cuyos efectos pueden observarse en la piel, los ojos y el sistema nervioso central. El diagnóstico se realiza por medio de la cuantificación de la actividad de la enzima. Se describe el caso de una paciente con signos clínicos patognomónicos del síndrome de Sjogren-Larsson, cuyo diagnóstico se realizó por medio de la cuantificación de la actividad enzimática en un cultivo de fibroblastos. Además, tomando en cuenta el árbol genealógico de la paciente, se realizó el estudio en los padres y un hermano con signos sugestivos del síndrome de Sjogren-Larsson.

Sjogren-Larsson syndrome is characterized by congenital ichthyosis, mental retardation and spastic diplegia or quadriplegia. The primary defect in this syndrome is mutation of ALDH3A2 gen that codes for the fatty aldehyde dehydrogenase. Deficiency of this enzyme causes an accumulation of fatty alcohols and fatty aldehydes, leading to altered cell-membrane integrity. Skin, eyes, and the central nervous system are affected latter. The diagnosis is carried out through the cuantification of the enzyme activity.

[Sjögren-Larsson syndrome: Pediatric case report]. / Síndrome de Sjögren-Larsson: Reporte de caso pediátrico.

Sjogren-Larsson syndrome is characterized by congenital ichthyosis, mental retardation and spastic diplegia or quadriplegia. The primary defect in this syndrome is mutation of ALDH3A2 gen that codes for the fatty aldehyde dehydrogenase. Deficiency of this enzyme causes an accumulation of fatty alcohols and fatty aldehydes, leading to altered cell-membrane integrity. Skin, eyes, and the central nervous system are affected latter. The diagnosis is carried out through the cuantification of the enzyme activity. This case report describes the diagnosis of a clinical syndrome with symptoms of Sjogren-Larsson syndrome by the quantification of the enzymatic activity in a culture of fibroblasts. Also, taking into account the genealogy of the patient, the study was conducted in the parents and a brother with signs suggestive of Sjogren-Larsson syndrome.

El síndrome de Sjogren-Larsson se caracteriza por retardo mental, ictiosis congènita y diplejía o cuadriplejía espástica. El defecto primario en este síndrome es la mutación del gen ALDH3A2, que codifica la enzima aldehído deshidrogenasa grasa y causa una deficiencia enzimática que produce una acumulación de alcoholes y aldehídos grasos en los tejidos que comprometen la integridad de la membrana celular, cuyos efectos pueden observarse en la piel, los ojos y el sistema nervioso central. El diagnóstico se realiza por medio de la cuantificación de la actividad de la enzima. Se describe el caso de una paciente con signos clínicos patognomónicos del síndrome de Sjogren-Larsson, cuyo diagnóstico se realizó por medio de la cuantificación de la actividad enzimática en un cultivo de fibroblastos. Además, tomando en cuenta el árbol genealógico de la paciente, se realizó el estudio en los padres y un hermano con signos sugestivos del síndrome de Sjogren-Larsson.

Predictive polymorphisms for breast cancer in postmenopausal Mexican women.

CONTEXT: Several factors contribute to the increase in breast cancer (BC) incidence, such as lifetime exposure to estrogen, early menarche and older ages at first birth, menopause, and the increased prevalence of postmenopausal obesity. In fact, there is an association between an increased BC risk and elevated estrogen levels, which may be involved in carcinogenesis via the estrogen receptor alpha (ERα) encoded by the ESR1 gene. Interestingly, there is an antagonistic relationship between ERα and the aryl hydrocarbon receptor (AhR) in BC cells. AIMS: Herein, we explore the combined effects of the ESR1 (XbaI, PvuII) and AhR polymorphisms on BC development in Mexican women according to their menopausal status. SETTINGS AND DESIGN: Investigation was performed using a cases and controls design. SUBJECTS AND METHODS: In a group of 96 cases diagnosed with BC and 111 healthy women, the single-nucleotide polymorphisms ESR1 (XbaI, PvuII) and AhR gene were identified by qPCR. STATISTICAL ANALYSIS USED: Chi-square test or Fisher's exact test were used. Statistical analyses were conducted using the STATA statistical package (Version 10.1, STATA Corp., College Station, TX, USA). RESULTS: The G/G XbaI genotype was more prevalent in the cases than in the controls (P = 0.008). Moreover, Mexican women carrying the XbaI (wild type [WT]/G or G/G) ESR1 genotype have higher risk (12.26-fold) for developing postmenopausal BC than individuals carrying the WT/WT genotype. CONCLUSIONS: The presence of the G/G genotype of XbaI may be considered a susceptibility allele in Mexican women. Due to increased postmenopausal BC risk, the XbaI (WT/G or G/G) alleles may be used as a postmenopausal predictive factor for BC in Mexican women.

[Assessment of the concentrations of carbonylated proteins and carbonyl reductase enzyme in mexican women with breast cancer: A pilot study]. / Determinación de proteínas carboniladas y enzima carbonil reductasa en mujeres mexicanas con cáncer de mama: estudio piloto.

Oxidative stress could promote the development of cancer and implicate carbonylated proteins in the carcinogenic process. The goal of this study was to assess the concentrations of carbonylated proteins and carbonyl reductase enzyme in women with breast cancer and determine whether these markers were possible indicators of tissue damage caused by the disease. A total of 120 healthy women and 123 women with a diagnosis of breast cancer were included. The concentration of carbonylated proteins in plasma and the concentration of carbonyl reductase enzyme in leukocytes were determined using the ELISA assay. There was a 3.76-fold increase in the amount of carbonylated proteins in the plasma from the patient group compared with healthy control group (5±3.27 vs. 1.33±2.31 nmol carbonyls/mg protein; p<0.05). Additionally, a 60% increase in the carbonyl reductase enzyme was observed in the patient group compared with the healthy control group (3.27±0.124 vs. 2.04±0.11 ng/mg protein; p<0.05). A positive correlation (r=0.95; p<0.001) was found between both measurements. These results suggest the presence of tissue damage produced by cancer; therefore, these parameters could be used to indicate tissue damage in cancer patients.

[Intracranial aneurysms and their clinical and genetic behaviour]. / Aneurismas intracraneales y su comportamiento clínico-genético.

BACKGROUND: Intracranial aneurysms are abnormal dilations of the cerebral arteries of unknown origin. However, some genes have been linked to their formation, as in the case of NOS3 gene which encodes the endothelial nitric oxide synthase responsible for producing nitric oxide. Several polymorphisms in this gene, in association with a variable number tandem repeat located in intron 4 from eNOS4 gene, can influence the formation of aneurysms. Therefore, the purpose of this study is to determine the genotype frequencies of eNOS3 and eNOS4 genes, and their relationship with intracranial aneurysms. MATERIAL AND METHODS: A prospective case-control study was performed on 79 cases with ruptured intracranial aneurysm and 93 healthy controls. DNA was obtained from all subjects for the study of the eNOS3 and eNOS4 genes by molecular techniques. RESULTS: The GG genotype of eNOS3 gene showed the largest number of patients (n=29) with a large aneurysm. While the intracranial aneurysms of medium size were found in a higher percentage (50%) in patients with genotype GT. In terms of patient outcomes, it was observed that those with genotype GG had the highest percentage (43.13%) recovery, compared to genotype GT (27.27%). CONCLUSIONS: The present study shows that there is a tendency of an association between genotypes of eNOS3 gene with the mean size of the aneurysm, as well as clinical sequelae of the disease in patients with intracranial aneurysms.

In vitro effect of sodium fluoride on malondialdehyde concentration and on superoxide dismutase, catalase, and glutathione peroxidase in human erythrocytes.

The aim of this paper was to describe the in vitro effect of sodium fluoride (NaF) on the specific activity of the major erythrocyte antioxidant enzymes, as well as on the membrane malondialdehyde concentration, as indicators of oxidative stress. For this purpose, human erythrocytes were incubated with NaF (0, 7, 28, 56, and 100 µg/mL) or NaF (100 µg/mL) + vitamin E (1, 2.5, 5 and 10 µg/mL). The malondialdehyde (MDA) concentration on the surface of the erythrocytes was determined, as were the enzymatic activities of superoxide dismutase (SOD), catalase (CAT), and glutathione peroxidase (GlPx). Our results demonstrated that erythrocytes incubated with increasing NaF concentrations had an increased MDA concentration, along with decreased activity of antioxidant enzymes. The presence of vitamin E partially reversed the toxic effects of NaF on erythrocytes. These findings suggest that NaF induces oxidative stress in erythrocytes in vitro, and this stress is partially reversed by the presence of vitamin E.

[Genetic variants associated to male infertility in Mexican patients]. / Variantes genéticas asociadas con infertilidad masculina en pacientes mexicanos.

Recently Mexican Federation of Obstetrics and Gynecology Colleges (Federación Mexicana de Colegios de Obstetricia y Ginecologia, FEMECOG) published the Mexican guideline forthe management of male infertility, which suggests performing genetic laboratory tests as part of diagnosis and management of infertile patients and states that these should receive genetic counseling. This paper reviews the genetic approach proposed by Mexican guideline. A systematic review of medical literature was performed in Pubmed and Web of Knowledge from 1980 to 2012 in order to find reports of genetic variants associated to male infertility in Mexican patients. Also it is discussed the current knowledge of these variants, their clinical implications and finally the guidelines and recommendations for their molecular diagnosis. Most genetic variants in Mexican infertile patients are chromosome abnormalities. In relation to other variants there is only a report of Y chromosome microdeletions, repeated CAG in androgen receptor and more common mutations in CFTR, and other article reporting mutations in CFTR in patients with congenital absence of vas deferens. Little is known about the genetics of Mexican infertile patients apart from chromosome abnormalities. However, the contribution of genetics as etiology of male infertility is taking more relevance and currently the consensual management of infertile male should include the screening of genetic background. This review pretends to be a quick guide for clinicians who want to know about reports of genetic variants related to male infertility in Mexican population and how to approach their diagnosis.

[May-Thurner syndrome as a cause of neurovascular compression of the pudendal nerve]. / Síndrome de May-Thurner como causa de compresión neurovascular del nervio pudendo.

May-Thurner syndrome is a clinical condition that results from narrowing of the left common iliac vein lumen due to pressure from the right common iliac artery as it crosses anterior to it. We describe an atypical case of May-Thurner syndrome in a 23-year-old woman that presented only continuous pain in pudendal zone without vascular symptoms. The Doppler ultrasound, nuclear magnetic resonance and others complementary analyses show the presence of a pelvic venous congestion syndrome and we hypothesized that this condition produced a neuropathic compression of the pudendal nerve in Alcock's canal. Patient was treated with the technique of pudendal nerve blockade by trans-gluteal via. An important reduction in pain of pudendal zone was showed.

[Probable association between preeclampsia/eclampsia and paternal age: a pilot study]. / Posible asociación entre preeclampsia-eclampsia y la edad paterna: estudio piloto.

BACKGROUND: The preeclampsia is a multisystemic syndrome that occupied the first cause of maternal and fetal mortality around the world. Epidemiologic studies shown both mother and father contribute at the same risk for preeclampsia. OBJECTIVE: To determinate if there is an association between preeclampsia and paternal age. MATERIAL AND METHOD: Preeclampsia-eclampsia patients and couples were analyzed in agree to "National High Blood Pressure Education Program Working Group" classification, and a control group constituted by normal pregnant women and couples was included. RESULTS: There were 27 cases with mild preeclampsia and her couples, 13 cases with severe preeclampsia and her couples and 40 controls conformed by normal pregnant women and her couples. The statistical analysis of variance of the ages shown that men from preeclamptic group had a greater variance in contrast with man of control group (p < 0.001; valor of F = 5.084). CONCLUSIONS: Although is not clear how paternal age interview in preeclampsia risk, the interaction between paternal-maternal imprinting and spermatic senescence, followed by shortened telomeres of chromosome, could be produce the inactivity of a whole network of signals implicated in disease aetiology.

Effect of sodium fluoride ingestion on malondialdehyde concentration and the activity of antioxidant enzymes in rat erythrocytes.

Fluoride intoxication has been shown to produce diverse deleterious metabolic alterations within the cell. To determine the effects of sodium fluoride (NaF) treatment on malondialdehyde (MDA) levels and on the activity of antioxidant enzymes in rat erythrocytes, Male Wistar rats were treated with 50 ppm of NaF or were untreated as controls. Erythrocytes were obtained from rats sacrificed weekly for up to eight weeks and the concentration of MDA in erythrocyte membrane was determined. In addition, the activity of the enzymes superoxide, dismutase, catalase, and glutathione peroxidase were determined. Treatment with NaF produces an increase in the concentration of malondialdehyde in the erythrocyte membrane only after the eight weeks of treatment. On the other hand, antioxidant enzyme activity was observed to increase after the fourth week of NaF treatment. In conclusion, intake of NaF produces alterations in the erythrocyte of the male rat, which indicates induction of oxidative stress.