[Sense of coherence in type 2 diabetes mellitus debutants: case-control study]. / Sentido de coherencia en debutantes de diabetes mellitus 2: estudio tipo casos-controles.

Background: The pathogenic model guides the study of risk factors for the disease; the salutogenic model guides the study of health assets, focused on problem solving, the ability of people to use their available resources and perceive their lives as coherent, structured and understandable. Its central element is the sense of coherence (SOC). The relationship of SOC with different phases of diabetes has been demonstrated, but not in diabetic debutants. Objective: To evaluate the magnitude of the association of SOC between type 2 diabetes mellitus (T2DM) debutants and absentees in people detected in the PREVENIMSS module. Material and methods: case-control design. Cases were T2DM debutants with fasting plasma glucose ≥ 126 mg/dL; controls, people with plasma glucose < 100 mg/dL. Sample size was estimated for independent groups (101 cases and 202 controls) in which the SOC-29 questionnaire was administered; socio-demographic data was recorded and their file was reviewed. Reliability of SOC-29 was analyzed; univariate analysis, chi-squared and binary logistic regression were used to estimate association and odds ratio (OR). Results: T2DM debutants were 5 times more likely to achieve a low SOC score than patients without T2DM (p = 0.002; OR: 5.31, 95% confidence interval: 1.81-15.53). Conclusions: High sense of coherence is an asset for the health of T2DM debutants; it is proposed to incorporate this topic into the DIABETIMSS program.

Introducción: el modelo patogénico orienta a estudiar factores de riesgo para la enfermedad; el modelo salutogénico orienta a estudiar activos para la salud y está centrado en la resolución de problemas, la capacidad de las personas para usar sus recursos disponibles y percibir su vida como coherente, estructurada y comprensible. Su elemento central es el sentido de coherencia (SOC). Está demostrada la relación del SOC con diferentes fases de la diabetes, pero no con el debut diabético. Objetivo: evaluar la magnitud de la asociación del SOC entre debutante y ausente de diabetes mellitus tipo 2 (DMT2) en personas detectadas en el módulo PREVENIMSS. Material y métodos: diseño de casos y controles. Los casos fueron personas debutantes de DMT2 con glucemia plasmática en ayuno ≥ 126 mg/dL; los controles, personas con glucemia plasmática < 100 mg/dL. Se estimó tamaño de muestra para grupos independientes (101 casos y 202 controles) en los que se aplicó cuestionario SOC-29; se registraron datos sociodemográficos y se revisó su expediente. Se analizó la confiabilidad del SOC-29; se empleó análisis univariado, chi cuadrado y regresión logística binaria para estimar asociación y razón de momios (RM). Resultados: los pacientes debutantes de DMT2 tenían 5 veces más probabilidad de alcanzar una puntuación de SOC baja que los pacientes sin DMT2 (p = 0.002; RM 5.31, intervalo de confianza del 95% 1.81-15.53). Conclusiones: el sentido de coherencia alto es un activo para la salud del debutante de DMT2; se propone incorporar este tema al programa DIABETIMSS.

A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2.

OBJECTIVE: The classic triad, which defines IFAP syndrome, is ichthyosis follicularis, alopecia, and photophobia. It is a rare X-linked genetic disorder characterized by multiple congenital anomalies with variable severity, caused by pathogenic variants in the MBTPS2 gene, which encodes a zinc metalloprotease that is essential for normal development. This study aimed to report a case of a Brazilian patient with IFAP syndrome presenting skeletal anomalies, which is a rare finding among patients from different families. CASE DESCRIPTION: We describe a male proband with IFAP syndrome showing severe ichthyosis congenita, cryptorchidism, limb malformation, and comprising the BRESHECK syndrome features. Using whole-exome sequencing, we identified a rare missense variant in hemizygosity in the MBTPS2 gene, which had not been identified in other family members. COMMENTS: This is the first diagnosis of IFAP syndrome in Brazil with a molecular investigation. The present case study thus expands our knowledge on the mutational spectrum of MBPTS2 associated with IFAP syndrome.

A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2 / Um caso brasileiro de síndrome IFAP com ictiose congênita grave e malformações de membros causadas por uma variante rara em MBTPS2

Abstract Objective: The classic triad, which defines IFAP syndrome, is ichthyosis follicularis, alopecia, and photophobia. It is a rare X-linked genetic disorder characterized by multiple congenital anomalies with variable severity, caused by pathogenic variants in the MBTPS2 gene, which encodes a zinc metalloprotease that is essential for normal development. This study aimed to report a case of a Brazilian patient with IFAP syndrome presenting skeletal anomalies, which is a rare finding among patients from different families. Case description: We describe a male proband with IFAP syndrome showing severe ichthyosis congenita, cryptorchidism, limb malformation, and comprising the BRESHECK syndrome features. Using whole-exome sequencing, we identified a rare missense variant in hemizygosity in the MBTPS2 gene, which had not been identified in other family members. Comments: This is the first diagnosis of IFAP syndrome in Brazil with a molecular investigation. The present case study thus expands our knowledge on the mutational spectrum of MBPTS2 associated with IFAP syndrome.

RESUMO Objetivo: A clássica tríade de ictiose folicular, alopecia e fotofobia dá nome a uma síndrome rara de origem genética com herança ligada ao cromossomo X (síndrome IFAP, do inglês Ichthyosis Follicularis, Alopecia, and Photophobia). Esta é uma síndrome caracterizada por múltiplas anomalias congênitas de expressividade variável, causada por variantes patogênicas no gene MBTPS2, que codifica uma zinco-metaloprotease essencial para o desenvolvimento normal humano. O objetivo deste estudo é apresentar o relato de caso de um paciente brasileiro com síndrome IFAP que apresentou anomalias esqueléticas, um achado raro entre os pacientes de diferentes famílias. Descrição do caso: Apresentamos um probando do sexo masculino com síndrome IFAP, com ictiose congênita grave, criptorquidia, malformação de membros e as características da síndrome de BRESHECK. Por meio do sequenciamento do exoma completo, identificamos uma variante rara do tipo missense, em hemizigose, no gene MBTPS2, não identificada em outros membros da família. Comentários: Este é o primeiro diagnóstico de síndrome IFAP no Brasil com investigação molecular. A análise molecular e a descrição de uma variante rara no gene MBPTS2 expandem nosso conhecimento sobre o espectro mutacional desse gene associado à síndrome IFAP.

Changes in the total corneal refractive power after insertion of intrastromal rings in patients with keratoconus in short, medium and long term / Mudanças no poder refrativo total da córnea após a inserção de anéis intrastromais em pacientes com ceratocone a curto, médio e longo prazo

ABSTRACT Objective To analyze the short, medium and long-term efficacy and stability in 46 eyes with keratoconus, operated with Ferrara intrastromal corneal ring segments. Methods The primary endpoint was the mean keratometry of total corneal refractive power. We also studied the effects of age, degree of keratoconus and clinical phenotype on the results, as well as the following keratometry variations and aberrometry variations: flattest, most curved, mean, maximum, astigmatism, root mean square of primary coma aberration and root mean square of secondary coma aberration. Results The immediate postoperative reduction in mean keratometry of total corneal refractive power was 3.08±1.51 diopters (D) (p<0.001). At 4 years, the mean keratometry of total corneal refractive power increased to 0.57±0.96D (p=0.005). Between 4 and 7 years, there was no change in mean keratometry of total corneal refractive power (p=0.727). The degree of keratoconus was a factor affecting the efficacy of the intrastromal corneal ring segments, achieving a greater effect in those with a greater degree of keratoconus (p=0.012 between groups). The immediate postoperative reduction was 1.77±1.88D for the flattest, 3.91±2.30D for the most curved, 2.76±1.63D for the mean, 4.42±3.26D for the maximum, 2.15±2.68D for astigmatism, 1.03±0.83µm for root mean square of primary coma aberration and root mean square of secondary coma aberration (p<.001 in all cases). At 4 years, most curved increased by 0.42±0.78D (p=0.001), mean increased by 0.54±0.64 (p<0.001) and root mean square of primary coma aberration decreased 0.14±0.27µm (p=0.020). Conclusion Ferrara intrastromal corneal ring segment implantation is an effective and stable long-term treatment for patients with keratoconus. There is, however, partial regression in the medium term.

RESUMO Objetivo Analisar a eficácia e a estabilidade a curto, médio e longo prazo em 46 olhos com ceratocone, operados com segmentos de anel intrastromal corneano de Ferrara. Métodos A meta primária foi a ceratometria média de poder refrativo total da córnea. Também estudamos os efeitos da idade, grau de ceratocone e fenótipo clínico nos resultados, bem como as seguintes variações de ceratometria e variações de aberrometria: mais plana, mais curva, média, máxima, astigmatismo, raiz quadrada média da aberração comática primária e raiz quadrada média da aberração comática secundária. Resultados A redução pós-operatória imediata da ceratometria média do poder refrativo total da córnea foi de 3,08±1,51 dioptrias (D) (p<0,001). Aos 4 anos, a ceratometria média do poder refrativo total da córnea aumentou para 0,57±0,96D (p=0,005). Entre 4 e 7 anos, não houve mudança na ceratometria média da potência refrativa total da córnea (p=0,727). O grau de ceratocone foi um fator que afetou a eficácia dos segmentos do anel intrastromal da córnea, alcançando um efeito maior naqueles com maior grau de ceratocone (p=0,012 entre grupos). A redução pós-operatória imediata foi de 1,77±1,88D para a mais plana, 3,91±2,30D para a mais curva, 2,76±1,63D para a média, 4,42±3,26D para a máxima, 2,15±2,68D para o astigmatismo, 1,03±0,83µm para a raiz quadrada média da aberração comática primária e raiz quadrada média da aberração comática secundária (p<0,001 em todos os casos). Aos 4 anos, a maioria das curvas aumentou 0,42±0,78D (p=0,001), a média aumentou 0,54±0,64 (p<0,001) e a raiz quadrada média da aberração comática primária diminuiu 0,14±0,27µm (p=0,020). Conclusão O implante de anel intrastromal corneano Ferrara é um tratamento eficaz e estável a longo prazo para pacientes com ceratocone. Há, no entanto, uma regressão parcial a médio prazo.

Peripheral ulcerative keratitis as presenting manifestation of systemic microscopic polyangiitis: a case report / Ceratite ulcerativa periférica como manifestação de poliangiíte microscópica sistêmica: relato de caso

ABSTRACT Microscopic polyangiitis is a rare autoimmune disease of unknown etiology, characterized by inflammation and necrosis of blood vessels. It forms a part of the antineutrophil cytoplasmic antibody-associated vasculitides-a heterogeneous group of disorders characterized by vasculitis. It is a systemic disease affecting multiple organs. The patients may present with a wide variety of symptoms. Ocular manifestations may present as its initial clinical symptoms, necessitating a multidisciplinary approach for reducing the morbidity and mortality. Early diagnosis aids in the formulation of appropriate treatment and prevention of further complications. Aggressive treatment, including surgery, is often necessary to limit structural damage and preserve visual function. We present the case of an 82-year-old woman who initially presented with peripheral ulcerative keratitis that led to the diagnosis of microscopic polyangiitis.

RESUMO A poliangeíte microscópica é uma doença autoimune rara de etiologia desconhecida, caracterizada por inflamação e necrose dos vasos sanguíneos. Faz parte das vasculites associadas a anticorpos citoplasmáticos antineutrófilos - um grupo heterogêneo de doenças caracterizadas por vasculite. É uma doença sistêmica que afeta vários órgãos. Os pacientes podem apresentar uma grande variedade de sintomas. As manifestações oculares podem apresentar-se como seus sintomas clínicos iniciais, necessitando de abordagem multidisciplinar para redução da morbimortalidade. O diagnóstico precoce ajuda na formulação do tratamento adequado e na prevenção de complicações futuras. O tratamento agressivo, incluindo cirurgia, muitas vezes é necessário para limitar o dano estrutural e preservar a função visual. Apresentamos o caso de uma mulher de 82 anos que inicialmente apresentou ceratite ulcerativa periférica que levou ao diagnóstico de poliangite microscópica.

Peripheral ulcerative keratitis as presenting manifestation of systemic microscopic polyangiitis: a case report.

Microscopic polyangiitis is a rare autoimmune disease of unknown etiology, characterized by inflammation and necrosis of blood vessels. It forms a part of the antineutrophil cytoplasmic antibody-associated vasculitides-a heterogeneous group of disorders characterized by vasculitis. It is a systemic disease affecting multiple organs. The patients may present with a wide variety of symptoms. Ocular manifestations may present as its initial clinical symptoms, necessitating a multidisciplinary approach for reducing the morbidity and mortality. Early diagnosis aids in the formulation of appropriate treatment and prevention of further complications. Aggressive treatment, including surgery, is often necessary to limit structural damage and preserve visual function. We present the case of an 82-year-old woman who initially presented with peripheral ulcerative keratitis that led to the diagnosis of microscopic polyangiitis.

Bibliometric analysis of research reports: IMSS Southern Research Forum.

INTRODUCCIÓN: La Coordinación de Investigación en Salud del Instituto Mexicano del Seguro Social promueve acciones para la realización del Foro Sur de Investigación en Salud del Instituto Mexicano del Seguro Social (FSIS-IMSS), entre las que destacan la presentación de reportes de investigación. OBJETIVO: Analizar la actividad científica del FSIS-IMSS de 1995 a 2018 a través de los reportes de investigación publicados en el marco del Foro Sur. MATERIAL Y MÉTODOS: Estudio bibliométrico de los reportes de investigación publicados. Se elaboró una base de datos en el gestor EndNote X8 y se exportó a Excel para su análisis. Se empleó el Manual Metodológico de Indicadores Médicos 2017 para estandarizar la temática de investigación. Variables: productividad, colaboración, concentración y dispersión. Análisis: frecuencia y media, pruebas de Olmstead Tukey modificada por García de León, Shapiro-Wilk, r de Spearman y ji al cuadrado. RESULTADOS: 15,249 investigadores (el 53% mujeres) publicaron 6166 reportes de investigación. Ley de Price con ecuación: y = 130.13 e0.048x. Ley de Lotka conforma 45 grandes investigadores, 2899 medianos y 12,305 pequeños (p < 0.05). Colaboración alta: índice Subramanyan 0.8860 y tres autores como extensión (p < 0.05). Concentración temática moderada: índice Price 0.4922. Categoría temática dominante: diabetes mellitus. El modelo de Bradford explica la contribución de investigadores adscritos a 58 tipos de unidades, 10/58 aportaron 2054 reportes frente a 2061 de 57/58. CONCLUSIONES: La actividad científica del FSIS-IMSS en 1995-2018 tuvo mayor participación de mujeres y colaboración múltiple. Se observa una extensión de reportes constante de crecimiento exponencial y concentración de autores de reporte único. Discreta dispersión temática. Alta productividad de las unidades médicas de alta especialidad, los hospitales generales de zona y las instituciones educativas. BACKGROUND: The Health Research Coordination of the Mexican Institute of the Mexican Institute of Social Security promotes actions for the realization of the Southern Forum of Health Research of the Mexican Institute of Social Security (FSIS-IMSS), among which the presentation of research reports stands out. OBJECTIVE: Analyze the scientific activity of FSIS-IMSS from 1995 to 2018, through the research reports published in the framework of the Southern Forum. MATERIAL AND METHODS: Bibliometric study of published research reports. The database was created in the EndNote X8 manager and exported to Excel for analysis. Methodological Manual of Medical Indicators 2017 used to standardize research topics. Variables: productivity; collaboration; concentration; dispersion. Analysis: frequency, mean. Olmstead Tukey tests ­modified by García de León, Shapiro Wilk, r Spearman, Chi s­quare. RESULTS: 15,249 researchers (53% women) published 6166 scientific reports. Law of Price with equation: y = 130.13 e0.048x. Lotka's law consists of 45 large researchers, 2899 medium and 12,305 small (p < 0.05). High collaboration: Subramanyan index 0.8860 and three authors as extension (p < 0.05). Moderate thematic concentration: Price index 0.4922. Olmstead Tukey test modified by García de León exposes dominant thematic category: diabetes mellitus. Model of Bradford explains: 10/58 different types of units according to secondment of researchers contributed 2054 reports; 57/58 contributed 2061. CONCLUSIONS: Scientific activity of the FSIS-IMSS, from 1995-2018 shows greater participation of women, multiple collaboration and extension of constant reports of exponential growth and concentration of single report authors. Discrete thematic dispersion. High productivity of high specialty medical units, general zone hospitals and educational ­institutions.

The role of public health ethics in the COVID-19 pandemic. / El papel de la ética de la salud pública en la pandemia COVID-19.

The purpose of this essay is to point out that the ethical principles in public health are based on the concepts of security and social solidarity of the Instituto Mexicano del Seguro Social (Mexican Institute for Social Security), ideas that Mexico contributed to the world in 1943. It is emphasized that the principlism model generates confusion to solve the ethical dilemmas that occur in the face of COVID-19 pandemic, and the pertinence of security, solidarity, ontic responsibility, diachonic responsibility as ethical principles of public health with orientation towards vulnerability is outlined, clarifying their correspondence in ethical behavior in the face of COVID-19 pandemic caused by the novel SARS-CoV-2 coronavirus.

El propósito de este ensayo es señalar que los principios éticos en salud pública se asientan en los conceptos de seguridad y solidaridad social del Instituto Mexicano del Seguro Social, ideas que México aportó al mundo en 1943. Se enfatiza que el modelo principialista genera confusión para resolver los dilemas éticos que ocurren ante la pandemia COVID-19, y se esboza la pertinencia de seguridad, solidaridad, responsabilidad óntica y responsabilidad diacónica como principios éticos de la salud pública con orientación hacia la vulnerabilidad, con lo que se clarifica su correspondencia en el actuar ético ante la pandemia COVID-19 causada por el nuevo coronavirus SARS-CoV-2.

Marine debris: Implications for conservation of rocky reefs in Manabi, Ecuador (Se Pacific Coast).

Marine debris (MD) pollution is a problem of global concern because of its impact on marine ecosystems. The current extent of this problem and its implications concerning reef conservation are unknown in Ecuador. The composition and distribution of submerged MD was assessed on two reefs using underwater surveys of geomorphological areas: crest, slope and bottom. MD items were classified according to source and use. Plastic-derived debris represents >90% of total MD found on the reefs, principally composed by plastic containers and nets. 63% of the MD was associated to fishing activities. The composition showed differences between sites and geomorphological areas, monofilament nets were found on the crests, multifilament lines on the slopes and plastic containers on the bottom. MD disposal might be a result of the influx of visitors and fishing activities. Distribution is related to bottom type, level of boating/fishing activity and benthic features.

Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion.

Van den Ende-Gupta Syndrome (VDEGS) is an autosomal recessive disorder characterized by blepharophimosis, distinctive nose, hypoplastic maxilla, and skeletal abnormalities. Using homozygosity mapping in four VDEGS patients from three consanguineous families, Anastacio et al. [Anastacio et al. (2010); Am J Hum Genet 87:553-559] identified homozygous mutations in SCARF2, located at 22q11.2. Bedeschi et al. [2010] described a VDEGS patient with sclerocornea and cataracts with compound heterozygosity for the common 22q11.2 microdeletion and a hemizygous SCARF2 mutation. Because sclerocornea had been described in DiGeorge-velo-cardio-facial syndrome but not in VDEGS, they suggested that the ocular abnormalities were caused by the 22q11.2 microdeletion. We report on a 23-year-old male who presented with bilateral sclerocornea and the VDGEGS phenotype who was subsequently found to be homozygous for a 17 bp deletion in exon 4 of SCARF2. The occurrence of bilateral sclerocornea in our patient together with that of Bedeschi et al., suggests that the full VDEGS phenotype may include sclerocornea resulting from homozygosity or compound heterozygosity for loss of function variants in SCARF2.

Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families.

Autosomal recessive osteogenesis imperfecta (OI) accounts for 10% of all OI cases, and, currently, mutations in 10 genes (CRTAP, LEPRE1, PPIB, SERPINH1, FKBP10, SERPINF1, SP7, BMP1, TMEM38B, and WNT1) are known to be responsible for this form of the disease. PEDF is a secreted glycoprotein of the serpin superfamily that maintains bone homeostasis and regulates osteoid mineralization, and it is encoded by SERPINF1, currently associated with OI type VI (MIM 172860). Here, we report a consanguineous Brazilian family in which multiple individuals from at least 4 generations are affected with a severe form of OI, and we also report an unrelated individual from the same small city in Brazil with a similar but more severe phenotype. In both families the same homozygous SERPINF1 19-bp deletion was identified which is not known in the literature yet. We described intra- and interfamilial clinical and radiological phenotypic variability of OI type VI caused by the same homozygous SERPINF1 19-bp deletion and suggest a founder effect. Furthermore, the SERPINF1 genotypes/phenotypes reported so far in the literature are reviewed.

Recurrent DNA inversion rearrangements in the human genome.

Several lines of evidence suggest that reiterated sequences in the human genome are targets for nonallelic homologous recombination (NAHR), which facilitates genomic rearrangements. We have used a PCR-based approach to identify breakpoint regions of rearranged structures in the human genome. In particular, we have identified intrachromosomal identical repeats that are located in reverse orientation, which may lead to chromosomal inversions. A bioinformatic workflow pathway to select appropriate regions for analysis was developed. Three such regions overlapping with known human genes, located on chromosomes 3, 15, and 19, were analyzed. The relative proportion of wild-type to rearranged structures was determined in DNA samples from blood obtained from different, unrelated individuals. The results obtained indicate that recurrent genomic rearrangements occur at relatively high frequency in somatic cells. Interestingly, the rearrangements studied were significantly more abundant in adults than in newborn individuals, suggesting that such DNA rearrangements might start to appear during embryogenesis or fetal life and continue to accumulate after birth. The relevance of our results in regard to human genomic variation is discussed.