Complete chloroplast genome of the marine red alga Rhodochorton tenue (Rhodochortonaceae, Rhodophyta) from San Juan Island, Washington.

We present the complete chloroplast genome sequence of Rhodochorton tenue from San Juan Island, Washington. The chloroplast genome of R. tenue is 192,037 bp in length, contains 244 genes, and is similar in content to Acrochaetium secundatum. Rhodochorton tenue is genetically distinct from Rhodochorton purpureum from the North Atlantic Ocean.

[Early detection of WHIM symdrome. A case report]. / Identificación temprana de síndrome de WHIM. Informe de un caso.

BACKGROUND: WHIM syndrome corresponds to an inborn error of innate and intrinsic immunity, characterized by: warts (Warts), Hypogammaglobulinemia, Infections and Myelocathexis, for its acronym in English. CASE REPORT: 4-year-old male, with severe neutropenia and B-cell lymphopenia from birth, without severe infections or warts; the panel genetic sequencing study of primary immunodeficiencies with the CXCR4 c.1000C>T (p.Arg334*) variant, which is associated with WHIM syndrome. CONCLUSIONS: The diagnosis of severe neutropenia from birth should include the search for inborn errors of immunity, through genetic sequencing studies, especially in asymptomatic or oligosymptomatic patients.

ANTECEDENTES: El síndrome WHIM corresponde a un error innato de la inmunidad innata e intrínseca, caracterizada por verrugas (Warts), hipogammaglobulinemia, infecciones y mielocatexis, por sus siglas en inglés. REPORTE DE CASO: Paciente masculino de 4 años, con neutropenia severa y linfopenia de células B desde el nacimiento, sin infecciones severas ni verrugas. El estudio de secuenciación genética informó la variante CXCR4 c.1000C>T (p.Arg334*), relacionada con el síndrome de WHIM. CONCLUSIÓN: El diagnóstico de neutropenia severa desde el nacimiento debe incluir la búsqueda de errores innatos de la inmunidad, mediante estudios de secuenciación genética, especialmente en pacientes asintomáticos u oligosintomáticos.

Haplotypes of [-794(CATT)5-8 /-173G>C] MIF gene polymorphisms and its soluble levels in cutaneous squamous cell carcinoma in western Mexican population.

BACKGROUND: Some cytokines are strongly implicated in the development of squamous cell carcinoma (SCC) such as the Macrophage migration inhibitory factor (MIF). The haplotype -794 (CATT)5-8 /-173G>C in MIF gene polymorphisms has been associated with some types of cancer. The aim of this study is to establish the possible association between the presence of this haplotype in the MIF gene and its subsequent soluble levels with the susceptibility of SCC in western Mexican population. METHODS: This study included 175 SCC patients and 175 age-sex-matched individuals as a reference group (RG) from western Mexico. Genomic DNA was extracted from peripheral blood leukocytes. Polymorphisms were genotyped by endpoint PCR and PCR-RFLP, and the determination of MIF serum levels was measured by ELISA. Clinical characteristics were evaluated by a group of dermatologists. RESULTS: Analysis of [-794(CATT)5-8 /-173G>C] MIF gene polymorphisms showed that the 5C (OR = 2.7, p = 0.02) and the 7G (OR = 3.39, p < 0.01) haplotypes are associated with susceptibility in SCC. MIF soluble levels in SCC patients showed a median of 13.93 ng/mL, whereas the reference group showed 6.000 ng/mL. CONCLUSIONS: Our findings suggest that 5C and 7G [-794(CATT)5-8 /-173G>C] MIF gene haplotypes are associated with susceptibility to SCC and that SCC patients present increased soluble levels of MIF.

Diminished cortical bone density of long bones among children with haemophilic arthropathy.

INTRODUCTION: Children with haemophilia (CwH) have lower bone mineral density in the spine (trabecular bone) than healthy children. There are few studies focusing on bone mineral density in long bones (cortical bone). AIM: To evaluate bi-laterally the distal third of radius and midshaft tibias using quantitative ultrasound (QUS) and assess the speed of sound (SoS). METHODS: A cross-sectional study where 91 CwH and 91 age-matched healthy boys were included. Joint evaluation was determined with the Haemophilia Joint Health Score 2.1 and SoS values. The Z scores were measured with the Sunlight Omnisense 8000 S equipment. RESULTS: Ninety-one CwH (haemophilia A) were evaluated (26 mild form, 26 moderate, and 39 severe). Most patients were treated with on-demand factor replacement and had higher total HJHS scores according to severity (4.8, 14.8 and 14.1, respectively). Patients with moderate and severe disease showed a statistical difference in SoS values for both radius and tibias compared to controls. QUS Z-scores ≥-2 were more frequent in radius and tibias in CwH, but were statistically significant only in tibias when compared to controls (in 30% mild, 46% moderate, 28% severe, respectively). CONCLUSIONS: There was diminished cortical bone density in radius and tibias of CwH compared to healthy controls. Changes predominated in tibias, more frequently affected according to the severity of haemophilia. Early intervention with factor replacement combined with physical activity are key aspects to promote bone health.

New insights into progressive ligand replacement from [Ru2Cl(O2CCH3)4]: synthetic strategies and variation in redox potentials and paramagnetic shifts.

The complete series of [Ru2Cl(Dp-FPhF)x(O2CCH3)4-x] (x = 1-4; Dp-FPhF- = N,N'-bis(4-fluorophenyl)formamidinate) compounds, has been prepared and characterized by a multi-technique approach, including single crystal X-ray diffraction. A careful study of the different methodologies has allowed us to prepare four compounds with good yields and without an inert atmosphere or further purification. Specifically, [Ru2Cl(Dp-FPhF)(O2CCH3)3] (1) was obtained using an ultrasound-assisted (USS) method, while [Ru2Cl(Dp-FPhF)4] (4) was prepared by microwave assisted solvothermal synthesis (MWS). The intermediate substitution products cis-[Ru2Cl(Dp-FPhF)2(O2CCH3)2] (2) and [Ru2Cl(Dp-FPhF)3(O2CCH3)] (3) have been prepared by conventional heating, controlling the molar ratio of the starting materials. ESI-MS and infrared spectroscopy were used to follow all the reactions and permitted a qualitative evaluation of the axial reactivity in this series. Magnetic and absorption measurements confirmed a high spin σ2π4δ2(π*δ*)3 electronic configuration in all cases. However, the effect of the gradual modification of the electronic density in the diruthenium core markedly affects other properties. The cyclic voltammograms of the compounds show a strong decrease in the one electron oxidation potential and an increase in the reduction potential in the series from 1 to 4. Furthermore, despite their paramagnetic nature, 1H- and 19F-NMR spectra were recorded, and a correlation between the paramagnetic shift of the signals and the substitution degree of the diruthenium species was observed. These results provide a comprehensive guide to synthesise and understand the effects of equatorial ligand substitution on the properties of Ru25+ compounds.

Psoriasiform skin reaction due to Brazilian keratin treatment: A clinical-dermatoscopic study of 43 patients.

Introduction: Hair straightening products like the Brazilian Keratin Treatment (BKT) contain high concentrations of formaldehyde, and its use is associated with adverse effects. In 2016, seven cases of eczema-like psoriasiform skin reaction secondary to BKT were described for the first time. We aim to investigate the clinical characteristics and dermatoscopic findings of patients with psoriasiform skin reactions due to BKT. Materials and Methods: A cross-sectional study was performed from October 2017 to June 2020. Patients who developed erythema and scales on the scalp following the use of BKT were included. Age, sex, number of BKTs, time elapsed between BKT and the skin reaction, pull test, and dermatoscopic findings were investigated. Descriptive and inferential statistics were used. Results: We found 43 patients with a mean age of 35 ± 10 years, predominantly females in 42 (98%) cases. The mean number of BKTs was 2 ± 2. The mean length of time elapsed to present the reaction was 12 ± 17 months and this was related to the number of BKTs (P = 0.01). The pull test was positive in 37 (86%) patients. The most frequent dermatoscopic findings were perifollicular scales in 42 (98%), red patches in 35 (81%), and peripilar desquamation resembling the outer skin of an onion bulb in 32 (74%). Conclusion: Hair straightening products are widely used and the psoriasiform skin reaction that develops afterward might be underdiagnosed. It is important to investigate the background of BKT in conjunction with the clinical and dermatoscopic findings suggestive of this cutaneous reaction.

COVID-19 in the pediatric population of the state of Jalisco: spatiotemporal analysis of 1,515 cases.

BACKGROUND: Initial publications of COVID-19 (2019 coronavirus disease) focused on the adult population until March 2020, when the first series in children was reported. Our objective was to analyze the spatiotemporal behavior of the pediatric population with COVID-19 in the state of Jalisco. METHODS: We conducted a cross-sectional study including subjects < 18 years of age with SARS-CoV-2 (severe acute respiratory syndrome coronavirus 2) infection confirmed by reverse transcription-polymerase chain reaction, registered in the RADAR platform. We investigated the prevalence, incidence rate, age, sex, outpatient or inpatient status, distribution of cases by time, municipality of residence, and geographical region. Descriptive statistics were used for data analysis. RESULTS: Of 58,231 subjects studied, 1,515 were children (3%): 768 males (51%) and 747 females (49%). The mean age was 12 ± 5 years; outpatients predominated (94%). The Central region concentrated the largest cases with 1,257 (82%) and was the second-highest incidence rate, behind the Occidental Coastal-Mountain region. The most affected municipality was Guadalajara. The distribution of new cases increased proportionally to mobility: after the holiday weekend in May, it rose from 28 to 161 cases; after the opening of beaches and recreational sites in June and July, to 539; and after the opening of movie theaters in August, to 673 cases. CONCLUSIONS: Although with a lower incidence, the pediatric population is not exempt from SARS-CoV-2 infection. We observed an increase in cases as restrictions on social activities diminished.

INTRODUCCIÓN: Las publicaciones iniciales de COVID-19 (enfermedad por coronavirus de 2019) se enfocaron en población adulta, hasta marzo de 2020, cuando se informó la primera serie en niños. Nuestro objetivo fue analizar el comportamiento espacio-temporal de la población pediátrica con COVID-19 en el estado de Jalisco. MÉTODOS: Se llevó a cabo un estudio transversal en el que se incluyeron sujetos < 18 años con infección por SARS-CoV-2 (coronavirus tipo 2 del síndrome respiratorio agudo grave) confirmada por reacción en cadena de la polimerasa con retrotranscriptasa, registrados en la plataforma RADAR. Se investigó la prevalencia, tasa de incidencia, edad, sexo, paciente ambulatorio u hospitalizado, distribución de casos por tiempo, municipio de residencia y región geográfica. Se utilizó estadística descriptiva para el análisis de los datos. RESULTADOS: De 58,231 sujetos estudiados, se encontraron 1,515 pacientes pediátricos (3%): 768 de sexo masculino (51%) y 747 de sexo femenino (49%). La media de edad fue de 12 ± 5 años; predominaron los pacientes ambulatorios (94%). La región Centro concentró la mayor cantidad de casos con 1,257 (82%) y fue la segunda con mayor tasa de incidencia, detrás de la región Costa-Sierra Occidental. El municipio más afectado fue Guadalajara. La distribución de nuevos casos incrementó al aumentar la movilidad: después del puente vacacional de mayo subió de 28 a 161 casos; tras la apertura de playas y sitios de recreación en junio y julio, a 539 casos, y posterior a la apertura de cines en agosto, a 673 casos. CONCLUSIONES: Aunque con una incidencia menor, la población pediátrica no está exenta de la infección por SARS-CoV-2. Se observó un incremento de los casos a medida que disminuyeron las restricciones para las actividades sociales.

Lymphocytoma cutis (cutaneous B-cell pseudolymphoma): study of 102 cases with emphasis on the histological characteristics and immunohistochemistry of the miliarial type.

BACKGROUND: Lymphocytoma cutis (LC) is a benign reactive lymphoproliferative B-cell process. It has two variants: localized type with solitary lesions and miliarial type with numerous lesions. The objective was to investigate the characteristics of LC with emphasis on the miliarial type. METHODS: Retrospective study, patients with clinical and histopathological diagnosis of LC were included. Age, sex, evolution time, affected site, and type of treatment were investigated. In miliarial-type LC, the histological and immunohistochemical characteristics were also investigated. RESULTS: In an 18-year period, there were 102 patients found with LC: 72 (71%) corresponded to females, the median age was 45 years, the median evolution time was 4 months, and the face was the most predominant affected area in 81 (79%) cases. Localized-type LC corresponded to 88 (86%) cases, and miliarial type in 14 (14%). The most common treatment was surgery, which was used in 32 (31%) patients, all of whom had localized type (P < 0.01). The most frequent treatment for miliarial-type LC was corticosteroids in five (36%, P = 0.32), the predominant histopathological pattern was nodular in 10 (71%) specimens, and immunohistochemistry was performed in 11 (79%), where all were positive for CD20 with polyclonality to kappa and lambda light chains. CONCLUSIONS: The importance of LC lies in that it can be clinically and histopathologically confused with cutaneous lymphoma and that it is a rare entity, with its miliarial variant being rarer still. This study provides information on the clinical-histological characteristics of LC and its immunohistochemistry.

Parental satisfaction with health care during child hospitalization at a social security facility in Mexico.

BACKGROUND: The Service Quality in Hospital (SERVQHOS) assesses quality and satisfaction with hospital care received. This study aimed to determine the quality and satisfaction of parents in a tertiary-level pediatric public facility in Mexico. METHODS: We conducted a cross-sectional study in which 425 anonymous surveys were distributed during the discharge of children. The questionnaire evaluates the individual (subjective) and organizational (objective) quality of service: reliability, tangibles, assurance, responsiveness, and empathy, as well as satisfaction on a 5-point scale from 1 (much worse) to 5 (much better). RESULTS: A total of 401 questionnaires were returned (94%). The mean quality score was 3.6 ± 0.7. The best-rated aspects were the medical equipment technology (3.6 + 0.8), the confidence that the staff transmits to patients (3.6 ± 0.8), and the friendliness of the staff when attending patients (3.6 ± 0.8). The worst-rated aspects were the condition of the rooms (3.4 ± 0.8), the waiting time to be attended by a physician (3.3 ± 0.8), and the timeliness of internal consultations (3.3 ± 0.8). The overall population rated as satisfied in 97% of cases. CONCLUSIONS: A high rate of satisfaction was observed concerning both objective and subjective factors. However, the negative aspects of objective quality, such as reliability, should be addressed organizationally without implying economic investment in their resolution.

INTRODUCCIÓN: La prueba de Calidad en el Servicio de Hospital (SERVQHOS) evalúa la calidad y la satisfacción con la atención hospitalaria recibida. El objetivo de este estudio fue determinar la calidad y la satisfacción de los padres de familia en un hospital público pediátrico de tercer nivel en México. MÉTODOS: Se realizó un estudio transversal en el que se distribuyeron 425 encuestas anónimas durante el alta de los pacientes. El cuestionario evalúa la calidad individual (subjetiva) y de la organización (objetiva) del servicio: fiabilidad, tangibles, garantía, capacidad de respuesta y empatía, y satisfacción en una escala tipo Likert de 5 puntos, de 1 (mucho peor) a 5 (mucho mejor). RESULTADOS: Se recibieron 401 encuestas respondidas (tasa de respuesta del 94%). El 97% de los padres calificaron la satisfacción global como satisfechos o muy satisfechos. Los aspectos mejor calificados fueron la tecnología de los equipos médicos (3.6 ± 0.8), la confianza que el personal transmite al paciente (3.6 ± 0.8) y la amabilidad del personal en su trato al paciente (3.6 ± 0.8). Los aspectos peor valorados fueron el estado de las habitaciones (3.4 ± 0.8), el tiempo de espera para ser atendido por un médico (3.3 ± 0.8) y la puntualidad de las interconsultas (3.3 ± 0.8). CONCLUSIONES: Se observó un alto índice de satisfacción relacionado tanto con los factores objetivos como con los subjetivos. Sin embargo, los aspectos negativos de calidad objetiva, tales como la fiabilidad, deben ser atendidos por la organización sin que ello implique una inversión económica para su resolución.

Psoriatic arthritis in patients with psoriasis: A clinical-epidemiological study at a dermatology center in western Mexico.

BACKGROUND/OBJECTIVE: Psoriatic arthritis (PsA) is a chronic inflammatory illness. Approximately, 15% of psoriasis patients have undiagnosed PsA. In Mexico, we found no related studies. Our objective was to investigate the clinical-epidemiological characteristics of PsA in psoriasis patients in western Mexico. METHODS: A cross-sectional study including Mexican patients with clinical and histopathological diagnosis of psoriasis. Physical examination, rheumatoid factor analysis and radiographies of axial and peripheral skeleton were performed. The prevalence of PsA using the CASPAR criteria, age, sex; clinical variants of PsA, psoriasis type and the Psoriasis Area and Severity Index (PASI), were assessed. Descriptive and inferential statistics were used. RESULTS: Of 90 patients with psoriasis, 48 met the criteria for PsA, with a prevalence of 53%, and average age of 50 ± 15 years. Predominating were, the female sex in 29 (60%), the axial variant of PsA in 24 (50%), and psoriasis plaques in 40 (83%). The average PASI was 12 ± 11. All cases were rheumatoid factor negative. These variables were not significantly different when comparing subjects with and without PsA, except for the female sex (60% vs. 7%; P < 0.001). CONCLUSIONS: Patients with psoriasis should intentionally be evaluated jointly Dermatologists and Rheumatologists searching joint involvement given the high prevalence of PsA previously undiagnosed.

Haplotypes of (-794(CATT)5-8/-173G>C) MIF gene polymorphisms and its soluble levels in basal cell carcinoma in western Mexican population.

Basal cell carcinoma (BCC) is the most common dermatological neoplasms in Caucasian populations. In Mexico, a prevalence of 3.9 per 1000 habitants is estimated. Recently, the macrophage migration inhibitory factor (MIF) has been related to different types of cancer. Therefore, this study aimed to investigate the genetic association of haplotypes of [-794(CATT)5-8/-173G>C]MIF gene polymorphisms and its soluble levels in BCC. A total of 360 individuals were recruited for the study, that is, 180 of the total amounts were patients with BCC histologically confirmed and the remaining 180 individuals were identified as control subjects (CS). Both polymorphisms were genotyped by PCR and PCR-RFLP (restriction fragment length polymorphism), and MIF serum levels were measured by ELISA kit. A borderline difference was found between the 55 genotype and the susceptibility to BCC (5.6% vs 1.7% in BCC and CS, respectively, OR=3.7 and p=0.04). Furthermore, the haplotype 7G showed a significant association with BCC (p=0.02, OR=1.99). Concerning MIF soluble levels, patients with BCC showed a media of 2.1 ng/mL and CS showed 4.4 ng/mL, the comparison between groups was significant (p<0.01). Our findings suggest that the 55 genotype and the haplotype 7G are associated with the susceptibility to BCC; furthermore, a significant difference was found between MIF soluble levels in both study groups.

Nevoid acanthosis nigricans: Report of four cases localized to the umbilicus.

Nevoid acanthosis nigricans is a rare, benign form of acanthosis nigricans. Of the 24 cases documented in the literature, only two are exclusively localized to the umbilicus. We present four cases of nevoid acanthosis nigricans localized to the umbilicus; in patients less than 25 years of age, with no known co-morbidities, three of whom were females. Two of the cases received, with good response, treatment based on topical calcipotriol, a medication not previously reported to be used for this indication. Contrary to other types of acanthosis nigricans, the nevoid acanthosis nigricans is not associated with any syndrome, endocrinopathy, obesity, medication, or neoplasia and it can be confused with other pathologies such as epidermal nevus or dermatosis neglecta.

Basal cell carcinoma, blue-white variant: Dermatoscopic findings in 32 cases.

BACKGROUND: The diagnosis of basal cell carcinoma is histopathological, but there are dermatoscopic criteria that confer high sensitivity and specificity to help the clinician improve its identification. However, the basal cell carcinoma blue-white variant does not totally meet these dermatoscopic criteria, and thus can be confused with other pigmented tumors. In the literature reviewed, we found only five cases of this variant. AIMS: The present objective is to describe the dermatoscopic characteristics of the blue-white variant of basal cell carcinoma observed in a tertiary dermatology institute. METHODS: The dermatoscopy files of patients with a histopathological diagnosis of basal cell carcinoma between January 1, 2006 and December 31, 2015 were reviewed. RESULTS: A total of 32 cases with blue-white variant of basal cell carcinoma were observed over a period of 10 years. Of these cases, 97% presented dermatoscopic findings not included in the aforementioned criteria, such as whitish septa, structureless white areas, homogenous blue pigmentation and shiny white structures. LIMITATIONS: The small sample size and the retrospective nature of the design. CONCLUSION: We consider it important for dermatologists to know this rare variant of basal cell carcinoma and to familiarize themselves with their dermatoscopic findings, in order to prevent erroneous diagnoses or inadequate treatments.

Lung Function in Adolescents Exposed to Environmental Contamination and Brickworks in Guadalajara, Mexico.

OBJECTIVE: To compare the pulmonary function in adolescents exposed to different concentrations of air pollutants in two different zones. METHODS: Two zones based on monitoring of environmental pollutant concentration as high (zone 1) and low (zone 2) were chosen. The lung functions of apparently healthy adolescents (12-15 years) residing in two zones were measured for forced vital capacity (FVC), forced expiratory volume in first second (FEV1), FEV1/FVC ratio, and forced expiratory flow (FEF)25-75. RESULTS: A total of 302 adolescents (142, zone 1 and 160, zone 2) resided in the study area, with higher than permissible concentrations of PM10 and ozone at both places. Abnormal lung functions were seen in a higher proportion of adolescents in zone 1 than zone 2 (23% and 14%; P=0.04). A significantly lower mean (SD) FEV1 was seen in adolescents in zone 1 than zone 2 [2.9 (0.5) vs. 3.2 (0.4) L, P = 0.04]. A higher proportion of abnormal FEV1/FVC ratio% was seen in zone 1 than 2 (12% vs. 6%, P=0.04), suggestive of an obstructive pattern on spirometry. Higher risk (b 95% CI) for abnormal lung functions was seen with the zone [2.2 (1.1-4.2)], diagnosis of asthma [5.74 (2.4-13.2)], and living within 500 meters from a brickwork [1.8 (1.0-2.5)]. CONCLUSION: High exposure to PM10, ozone and living near brickwork were associated with reduced lung function in adolescents.

[Clinical characteristics of primary immunodeficiencies in children from a tertiary hospital]. / Características clínicas de las inmunodeficiencias primarias en niños de un hospital de tercer nivel.

BACKGROUND: Primary immunodeficiencies are diseases that are caused by one or more defects in the immune system. OBJECTIVE: The purpose of the article is to describe the characteristics of the immunodeficiencies that were diagnosed in a pediatric hospital, which forms a reference center in the West of Mexico. METHODS: A cross-sectional study of pediatric patients with primary immunodeficiency in a pediatric hospital in Guadalajara, Jalisco. RESULTS: 60 patients were registered, of which 21% were female, and 78% were male. Predominant immunodeficiencies of antibodies formed the largest group (46% of patients). X-linked agammaglobulinemia was the most frequent immunodeficiency (21%); other frequent diagnoses were common variable immunodeficiency, and IgG subclass deficiency. The average age of the patients that were diagnosed was of 6.3 years. The most common initial manifestations were infectious processes (46%), and pneumonia was the frequent diagnosis (30%). Autoimmune manifestations were observed in 13% of patients; 67% of the patients were found with immunoglobulin replacement therapy, with which a decrease in hospitalizations from 3.2 times to 0.13 times was observed. There were two deceased patients due to surgical complications of cardiac correction and intestinal reconnection. CONCLUSION: Knowing the behavior of primary immune deficiencies in our environment allows the opening of areas of opportunity in order to improve the survival and quality of life of our patients.

Antecedentes: Las inmunodeficiencias primarias son un grupo de enfermedades causadas por uno más defectos del sistema inmunitario. Objetivo: Describir las características de las inmunodeficiencias diagnosticadas en un hospital pediátrico de tercer nivel, que constituye un centro de referencia en el Occidente de México. Métodos: Estudio transversal de pacientes pediátricos con inmunodeficiencias primarias atendidos en un hospital pediátrico en Guadalajara, Jalisco. Resultados: Se registraron 60 pacientes, 21 % mujeres y 78 % hombres. Las inmunodeficiencias predominantes de anticuerpos constituyeron el grupo más numeroso (46 %). La agammaglobulinemia ligada al cromosoma X fue la inmunodeficiencia más frecuente, con 21 % del registro. Otros diagnósticos frecuentes fueron inmunodeficiencia común variable y deficiencia de subclases de IgG. El promedio de edad al diagnóstico fue de 6.3 años. Las manifestación inicial más común fueron los procesos infecciosos (46 %) y la neumonía fue el diagnóstico más frecuente (30 %). Las manifestaciones autoinmunes se observaron en 13 % de los pacientes; 67 % de los pacientes se encontró con sustitución de inmunoglobulina, con la cual se observó disminución en las hospitalizaciones: de 3.2 a 0.13 veces. Fallecieron dos pacientes por complicaciones quirúrgicas de corrección cardiaca y reconexión intestinal. Conclusión: El conocimiento del comportamiento de las inmunodeficiencias primarias en nuestro medio permite apertura de áreas de oportunidad a fin de mejorar la supervivencia y calidad de vida de los pacientes.

Genetic biomarkers related to hemarthrosis, inflammation, and cartilage structure in pediatric patients with hemophilic arthropathy.

BACKGROUND: The pathophysiology of hemophilic arthropathy is complex and not completely understood. In this study, we aimed to identify biomarkers that can affect the hemophilic arthropathy severity. METHODS: Fifty patients were analyzed for biomarker frequencies; in 37 patients, articular symptoms were evaluated based on the physical joint examination score, and in 18, it was based on magnetic resonance imaging. Eight polymorphisms, namely FV 1691G>A, FII 20210G>A, MTHFR 677C>T and 1298A>C, TNFα-308G>A and -238G>A, ACAN VNTR, and IL1RN*2-VNTR were identified. RESULTS: Patients with the MTHFR 677TT genotype showed a higher number of affected joints (1.83 ± 0.9 vs. 0.55 ± 0.7 for CC; p = .023), whereas those with the MTHFR 1298AC genotype exhibited higher effusion according to two radiologists (0.90 ± 0.31/1.20 ± 0.63 vs. 0.38 ± 0.52/0.50 ± 0.53 for AA genotype; p = .043/0.036, respectively). In addition, patients with the TNFα-308GA genotype had more subchondral cysts (0.75 ± 0.95 vs. 0.07 ± 0.26 for GG genotype; p = .041). CONCLUSIONS: The distribution of risk genotypes for MTHFR and TNFα-308GA suggests their association with clinical parameters of hemophilic arthropathy. Cohort studies are essential to verify these associations.

Cutaneous melanoma in patients from western Mexico: Clinical pathology characteristics and their relationship to prognosis.

BACKGROUND/OBJECTIVE: Melanoma is the third most frequent malignant neoplasm in skin. The majority of information available comes from studies performed in Caucasian populations. Our objective was to investigate the clinico-pathological characteristics in Mexican patients with cutaneous melanoma and the relationship these characteristics had to prognosis. METHODS: A retrospective study included patients with a histopathological diagnosis of melanoma who were attended at a tertiary level Dermatology Institute over a 10-year period. Age, gender, anatomical location; histopathological subtype, Breslow thickness, Clark level; presence of ulceration, metastasis, anatomical-pathological stage and survival were investigated. To assess the data, descriptive statistics, chi-squared or the Fisher exact test and Kaplan-Meier curves were used. RESULTS: There were 323 patients included. The overall survival rate was 77% with an average follow-up of 7 years. The lowest survival was statistically related to the following: higher age (>65 years), localisation in palms/soles, histopathological nodular subtype, presence of ulceration, Breslow thickness >4.0 mm, Clark level V, the presence of metastasis and stage IV disease. CONCLUSIONS: Our results relay the characteristics and prognosis of patients with the diagnosis of cutaneous melanoma in western Mexico.

Giant basal cell carcinoma: clinical-histological characteristics of 115 cases.

INTRODUCTION: Giant basal cell carcinoma (GBCC) is a tumor ≥5 cm in size, with aggressive biological behavior, that represents 1% of basal cell carcinomas (BCC), and studies regarding it are scarce. Our objective was to investigate the clinical-histopathological characteristics of GBCC and the risk factors associated with its development. METHODS: A retrospective study over 8 years included patients with the clinical and histopathological diagnosis of GBCC. Age, sex, localization, size, evolution time, risk factors, and histological variants were compared to conventional BCC. Descriptive and inferential statistics were used, and a value of P < 0.05 was considered statistically significant. RESULTS: Of 5958 patients with BCC, 115 (2%) of them corresponded to GBCC. The average patient age was 73 ± 11 years, and the male sex (52%) and localization on the head and neck (63%) predominated. Average tumor size was 6.6 ± 2.2 cm, evolution time was 96 ± 86 months, and high-grade histological variants (51%) predominated. The group with GBCC had higher age (P < 0.01), greater frequency in the male sex (P = 0.01), longer evolution time (P < 0.01); a greater prevalence of risk factors (24% vs. 16%, P = 0.01), antecedents of other types of cancer (P = 0.03), and of burns (P = 0.03); and a greater frequency of high-grade histological variants (51% vs. 29%, P < 0.01). CONCLUSIONS: This is the largest series of GBCC published to date. Findings are similar to those previously reported, although the prevalence found here was greater.

[Seguridad y eficacia del modelo de atención fast-track vs. atención convencional en apendicitis no complicada del paciente pediátrico]. / Safety and effectiveness of the fast-track attention model vs. conventional care in uncomplicated appendicitis of the pediatric patient.

OBJETIVO: Comparar la seguridad y la eficacia de la atención fast-track vs. atención convencional en apendicitis no complicada en un hospital pediátrico. MÉTODO: Ensayo clínico controlado, aleatorizado, con dos grupos de 30 pacientes cada uno: A) fast-track, apendicitis no complicada que cumplieron el programa; y B) atención convencional, apendicitis no complicada con atención habitual. Variables de seguridad y eficacia: proporción de complicaciones y tiempo de estancia hospitalaria. RESULTADOS: Se incluyeron 60 pacientes, sin diferencia entre grupos: sexo masculino (53 vs. 60%), edad (8 ± 3 vs. 8 ± 2 años), tiempo de evolución (23 ± 21 vs. 24 ± 20 horas), tiempo desde ingreso a urgencias hasta inicio de cirugía (6 ± 4 vs. 8 ± 6 horas), y tipo de apendicitis edematosa (27 vs. 24%) o supurada (73 vs. 76%). La estancia hospitalaria promedio del grupo fast-track fue de 13 ± 5 vs. 72 ± 40 horas del grupo de atención convencional (p = 0.001). Hubo complicaciones en el 3 y el 6%, respectivamente (p = 1.0). La estancia hospitalaria disminuyó 2.45 días por paciente con el protocolo fast-track, lo que representa un ahorro de $ 6,731 pesos/día/paciente/hospitalización (US$ 373), sin un aumento de las complicaciones. CONCLUSIÓN: El protocolo fast-track en los niños con apendicitis no complicada es seguro y efectivo en un hospital universitario. El programa fast-track aportó beneficios clínicos y económicos, ahorrando en total $ 403,860 en los 30 pacientes. OBJECTIVE: To compare safety and efficacy of fast-track program vs. conventional attention in non-complicated appendicitis attending a pediatric university hospital. METHOD: Randomized clinical trial, comparing two groups with 30 patients each: (A) fast-track group, appendicitis agreeing the treatment protocol; and (B) conventional attention group, appendicitis following habitual surgical care. The efficacy and safety measures were length of hospital stay and proportion of complications. RESULTS: We included 60 patients, there were no significant difference between groups with regard: male gender (53 vs. 60%), age (8 ± 3 vs. 8 ± 2 years-old), time of evolution (23 ± 21 vs. 24 ± 20 h), time since admittance to emergency and beginning of surgery (6 ± 4 vs. 8 ± 6 h), and type of appendicitis edematous (27 vs. 24%) or suppurate (73 vs. 76%). Mean length of hospital stay in fast-track group was 13 ± 5 vs. 72 ± 40 h in conventional attention (p = 0.001). The complications were 3 and 6%, respectively (p = 1.0). Fast-track program diminished length of hospital stay in 2.45 days per patient, representing a mean cost saving of 6,731 Mexican pesos per day, per patient hospitalized (US$ 373), without increased complications. CONCLUSION: Fast-track program in children with non-complicated appendicitis is safe and effective in pediatric university hospital; there was cost-minimization without carelessness of safety. This program support clinical and economic benefits, a total saving of 403,860 Mexican pesos for the 30 patients in the fast-track group.

[Riesgo de recurrencia y de nuevas neoplasias cutáneas malignas en sujetos mexicanos con carcinoma basocelular]. / Risk of recurrence and new malignant cutaneous neoplasms in Mexican subjects with basal cell carcinoma.

INTRODUCCIÓN: El carcinoma basocelular (CBC) es la neoplasia cutánea maligna más común. OBJETIVO: se investigó el riesgo de recurrencia y de nueva neoplasia cutánea maligna después del tratamiento de CBC. MÉTODO: Estudio retrospectivo. Fueron identificados los pacientes con diagnóstico histopatológico de CBC primario, de enero de 2007 a diciembre de 2009, y se revisaron los expedientes para investigar el número de recurrencias, la localización, el tipo de tratamiento y la variante histopatológica, determinando nuevas neoplasias cutáneas malignas. El análisis incluyó estadística descriptiva e inferencial, considerando significativa una p < 0.05. RESULTADOS: Se incluyeron 397 pacientes, con un seguimiento promedio de 4 ± 1.5 años. La recurrencia se presentó en el 4% y se relacionó con un mayor tiempo de evolución (36 vs. 32 meses; p = 0.04) y haber sido tratado mediante técnicas destructivas (electrofulguración, criocirugía o imiquimod; 31 vs. 4%; p = 0.0004). No hubo relación con la localización ni con la variante histopatológica. El riesgo de desarrollar una nueva neoplasia maligna fue del 25%, y de ellas el 66% correspondió a un nuevo CBC y el 30% a carcinoma espinocelular. CONCLUSIONES: Es importante el seguimiento de los pacientes con CBC para identificar tanto las recurrencias como las nuevas neoplasias malignas, independientemente de la localización y de la variante histopatológica del primario. El tratamiento con técnicas quirúrgicas condiciona una menor recaída que las técnicas destructivas. INTRODUCTION: Basal cell carcinoma (BCC) is the most common skin malignant neoplasm. OBJECTIVE.: Investigate the risk of recurrence and of new skin malignant neoplasms, after treatment of BCC. METHOD: Retrospective study. We examined the files of patients with histopathological diagnosis of primary BCC, between January 2007 and December 2009, and we investigate number of recurrences and their relationship with localization, treatment type, and histopathological variant, and the number of new skin malignant neoplasms. For analysis, we employed descriptive and inferential statistics; p < 0.05 was considered significant. RESULTS: A total of 397 patients, with an average follow-up of 4 ± 1.5 years. Recurrences presented in 4%. Recurrences were related with longer time of evolution (36 vs. 32 months; p = 0.04) and treatment with destructive techniques (electrofulguration, cryosurgery or imiquimod; 31 vs. 4%; p < 0.001). There was no relationship with localization, or the histopathological variant. The risk of developing a new malignant neoplasm was 25%; 66% corresponded to a new BCC and 30% to squamous cell carcinoma. CONCLUSIONS: Follow-up of patients with BCC should be conducted independently of their localization and histopathological variant, especially in patients with greater evolution time, principally with surgical techniques.